12936 343 2 http://www.ebi.ac.uk/efo/EFO_1000225 Duodenal Villous Adenoma 'Duodenal Villous Adenoma' SubClassOf 'tumor of duodenum' 'Duodenal Villous Adenoma' SubClassOf 'villous adenoma' 'Duodenal Villous Adenoma' SubClassOf 'adenoma of small intestine' 'Duodenal Villous Adenoma' SubClassOf 'tumor of duodenum' 'Duodenal Villous Adenoma' SubClassOf 'villous adenoma' 'Duodenal Villous Adenoma' SubClassOf 'adenoma of small intestine' http://www.ebi.ac.uk/efo/EFO_1000223 Duodenal Adenocarcinoma 'Duodenal Adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' 'Duodenal Adenocarcinoma' SubClassOf 'carcinoma of duodenum' 'Duodenal Adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' 'Duodenal Adenocarcinoma' SubClassOf 'carcinoma of duodenum' http://www.ebi.ac.uk/efo/EFO_1000220 Disseminated Peritoneal Leiomyomatosis 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'peritoneal benign neoplasm' 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'leiomyomatosis' 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'peritoneal benign neoplasm' 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'leiomyomatosis' http://www.ebi.ac.uk/efo/EFO_1000221 Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ 'Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ' SubClassOf 'breast carcinoma in situ' 'Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ' SubClassOf 'breast carcinoma in situ' http://www.ebi.ac.uk/efo/EFO_1000228 EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood 'EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood' SubClassOf 'disease has location' some 'T cell' 'EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood' SubClassOf 'neoplasm of mature T-cells or NK-cells' 'EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood' SubClassOf 'disease has location' some 'T cell' 'EBV-Positive T-Cell Lymphoproliferative Disorder of Childhood' SubClassOf 'neoplasm of mature T-cells or NK-cells' http://www.ebi.ac.uk/efo/EFO_1000229 Eccrine Porocarcinoma 'Eccrine Porocarcinoma' SubClassOf 'eccrine carcinoma' 'Eccrine Porocarcinoma' SubClassOf 'eccrine carcinoma' http://www.ebi.ac.uk/efo/EFO_1000236 Endometrial Mucinous Adenocarcinoma 'Endometrial Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Endometrial Mucinous Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Endometrial Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Endometrial Mucinous Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000233 Endometrial Endometrioid Adenocarcinoma 'Endometrial Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'Endometrial Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000234 Endometrial Hyperplasia without Atypia 'Endometrial Hyperplasia without Atypia' SubClassOf 'hyperplasia' 'Endometrial Hyperplasia without Atypia' SubClassOf 'hyperplasia' http://www.ebi.ac.uk/efo/EFO_1000231 Endometrial Clear Cell Adenocarcinoma 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Endometrial Clear Cell Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000230 Endolymphatic Sac Tumor 'Endolymphatic Sac Tumor' SubClassOf 'papillary epithelial neoplasm' 'Endolymphatic Sac Tumor' SubClassOf 'papillary epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1000239 Endometrial Small Cell Carcinoma 'Endometrial Small Cell Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Endometrial Small Cell Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Small Cell Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000237 Endometrial Polyp 'Endometrial Polyp' SubClassOf 'uterine polyp' 'Endometrial Polyp' SubClassOf 'uterine polyp' http://www.ebi.ac.uk/efo/EFO_1000238 Endometrial Serous Adenocarcinoma 'Endometrial Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Endometrial Serous Adenocarcinoma' SubClassOf 'uterine corpus cancer' 'Endometrial Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Endometrial Serous Adenocarcinoma' SubClassOf 'uterine corpus cancer' http://www.ebi.ac.uk/efo/EFO_1000246 Ethmoid Sinus Adenoid Cystic Carcinoma 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'ethmoid sinus cancer' 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'ethmoid sinus cancer' http://www.ebi.ac.uk/efo/EFO_1000244 Epithelioid Cell Uveal Melanoma 'Epithelioid Cell Uveal Melanoma' SubClassOf 'epithelioid cell melanoma' 'Epithelioid Cell Uveal Melanoma' SubClassOf 'Uveal Melanoma' 'Epithelioid Cell Uveal Melanoma' SubClassOf 'epithelioid cell melanoma' 'Epithelioid Cell Uveal Melanoma' SubClassOf 'Uveal Melanoma' http://www.ebi.ac.uk/efo/EFO_1000242 Endometrial Undifferentiated Carcinoma 'Endometrial Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Endometrial Undifferentiated Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Endometrial Undifferentiated Carcinoma' SubClassOf 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_1000240 Endometrial Squamous Cell Carcinoma 'Endometrial Squamous Cell Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Endometrial Squamous Cell Carcinoma' SubClassOf 'endometrial carcinoma' 'Endometrial Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000248 Extrahepatic Bile Duct Squamous Cell Carcinoma 'Extrahepatic Bile Duct Squamous Cell Carcinoma' SubClassOf 'extrahepatic bile duct carcinoma' 'Extrahepatic Bile Duct Squamous Cell Carcinoma' SubClassOf 'extrahepatic bile duct carcinoma' http://www.ebi.ac.uk/efo/EFO_1000249 Extramammary Paget Disease 'Extramammary Paget Disease' SubClassOf 'Paget disease' 'Extramammary Paget Disease' SubClassOf 'Paget disease' http://www.ebi.ac.uk/efo/EFO_1000250 Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor 'Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' http://www.ebi.ac.uk/efo/EFO_1000257 Fibrous Hamartoma of Infancy 'Fibrous Hamartoma of Infancy' SubClassOf 'mesenchymal hamartoma' 'Fibrous Hamartoma of Infancy' SubClassOf 'mesenchymal hamartoma' http://www.ebi.ac.uk/efo/EFO_1000255 Fibroblastic Neoplasm 'Fibroblastic Neoplasm' SubClassOf 'mesenchymal cell neoplasm' 'Fibroblastic Neoplasm' SubClassOf 'disease has location' some 'fibroblast' 'Fibroblastic Neoplasm' SubClassOf 'mesenchymal cell neoplasm' 'Fibroblastic Neoplasm' SubClassOf 'disease has location' some 'fibroblast' http://www.ebi.ac.uk/efo/EFO_1000256 Fibrolamellar Carcinoma 'Fibrolamellar Carcinoma' SubClassOf 'hepatocellular carcinoma' 'Fibrolamellar Carcinoma' SubClassOf 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_1000253 Fallopian Tube Serous Adenocarcinoma 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'fallopian tube adenocarcinoma' 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'Fallopian Tube Serous Adenocarcinoma' SubClassOf 'fallopian tube adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000251 Fallopian Tube Carcinoma 'Fallopian Tube Carcinoma' SubClassOf 'carcinoma' 'Fallopian Tube Carcinoma' SubClassOf 'fallopian tube cancer' 'Fallopian Tube Carcinoma' SubClassOf 'carcinoma' 'Fallopian Tube Carcinoma' SubClassOf 'fallopian tube cancer' http://www.ebi.ac.uk/efo/EFO_1000252 Fallopian Tube Carcinosarcoma 'Fallopian Tube Carcinosarcoma' SubClassOf 'Fallopian Tube Carcinoma' 'Fallopian Tube Carcinosarcoma' SubClassOf 'carcinosarcoma' 'Fallopian Tube Carcinosarcoma' SubClassOf 'Fallopian Tube Carcinoma' 'Fallopian Tube Carcinosarcoma' SubClassOf 'carcinosarcoma' http://www.ebi.ac.uk/efo/EFO_1000259 Flat Urothelial Hyperplasia 'Flat Urothelial Hyperplasia' SubClassOf 'urothelial hyperplasia' 'Flat Urothelial Hyperplasia' SubClassOf 'urothelial hyperplasia' http://www.ebi.ac.uk/efo/EFO_1000260 Floor of Mouth Mucoepidermoid Carcinoma 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'carcinoma of floor of mouth' 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'carcinoma of floor of mouth' http://www.ebi.ac.uk/efo/EFO_1000261 Follicular Variant Thyroid Gland Papillary Carcinoma 'Follicular Variant Thyroid Gland Papillary Carcinoma' SubClassOf 'adenocarcinoma' 'Follicular Variant Thyroid Gland Papillary Carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000268 Gastric Adenoma 'Gastric Adenoma' SubClassOf 'stomach neoplasm' 'Gastric Adenoma' SubClassOf 'stomach polyp' 'Gastric Adenoma' SubClassOf 'Digestive System Adenoma' 'Gastric Adenoma' SubClassOf 'stomach neoplasm' 'Gastric Adenoma' SubClassOf 'stomach polyp' 'Gastric Adenoma' SubClassOf 'Digestive System Adenoma' http://www.ebi.ac.uk/efo/EFO_1000269 Gastric Choriocarcinoma 'Gastric Choriocarcinoma' SubClassOf 'malignant gastric germ cell tumor' 'Gastric Choriocarcinoma' SubClassOf 'extragonadal nonseminomatous germ cell tumor' 'Gastric Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Gastric Choriocarcinoma' SubClassOf 'malignant gastric germ cell tumor' 'Gastric Choriocarcinoma' SubClassOf 'extragonadal nonseminomatous germ cell tumor' 'Gastric Choriocarcinoma' SubClassOf 'choriocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000266 Gallbladder Small Cell Neuroendocrine Carcinoma 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000267 Gallbladder Squamous Cell Carcinoma 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000264 Gallbladder Adenosquamous Carcinoma 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000265 Gallbladder Biliary Intraepithelial Neoplasia 'Gallbladder Biliary Intraepithelial Neoplasia' SubClassOf 'gallbladder neoplasm' 'Gallbladder Biliary Intraepithelial Neoplasia' SubClassOf 'gallbladder neoplasm' http://www.ebi.ac.uk/efo/EFO_1000262 Gallbladder Adenocarcinoma 'Gallbladder Adenocarcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Gallbladder Adenocarcinoma' SubClassOf 'gallbladder carcinoma' 'Gallbladder Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000263 Gallbladder Adenoma 'Gallbladder Adenoma' SubClassOf 'Digestive System Adenoma' 'Gallbladder Adenoma' SubClassOf 'polyp of gallbladder' 'Gallbladder Adenoma' SubClassOf 'Digestive System Adenoma' 'Gallbladder Adenoma' SubClassOf 'polyp of gallbladder' http://www.ebi.ac.uk/efo/EFO_1000271 Gastric Hamartomatous Polyp 'Gastric Hamartomatous Polyp' SubClassOf 'Gastrointestinal Hamartoma' 'Gastric Hamartomatous Polyp' SubClassOf 'Gastrointestinal Hamartoma' http://www.ebi.ac.uk/efo/EFO_1000272 Gastric Mantle Cell Lymphoma 'Gastric Mantle Cell Lymphoma' SubClassOf 'Mantle cell lymphoma' 'Gastric Mantle Cell Lymphoma' SubClassOf 'Mantle cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000270 Gastric Diffuse Large B-Cell Lymphoma 'Gastric Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Gastric Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000277 Gastric Small Cell Neuroendocrine Carcinoma 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf 'gastric carcinoma' 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf 'gastric carcinoma' 'Gastric Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000278 Gastric Squamous Cell Carcinoma 'Gastric Squamous Cell Carcinoma' SubClassOf 'gastric carcinoma' 'Gastric Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Gastric Squamous Cell Carcinoma' SubClassOf 'gastric carcinoma' 'Gastric Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000275 Gastric Neuroendocrine Tumor G1 'Gastric Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' 'Gastric Neuroendocrine Tumor G1' SubClassOf 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' 'Gastric Neuroendocrine Tumor G1' SubClassOf 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' 'Gastric Neuroendocrine Tumor G1' SubClassOf 'carcinoid tumor' http://www.ebi.ac.uk/efo/EFO_1000276 Gastric Papillary Adenocarcinoma 'Gastric Papillary Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Gastric Papillary Adenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'Gastric Papillary Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Gastric Papillary Adenocarcinoma' SubClassOf 'papillary adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000274 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' http://www.ebi.ac.uk/efo/EFO_1000282 Gonadal Teratoma 'Gonadal Teratoma' SubClassOf 'teratoma' 'Gonadal Teratoma' SubClassOf 'teratoma' http://www.ebi.ac.uk/efo/EFO_1000283 Grade III Prostatic Intraepithelial Neoplasia 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'in situ carcinoma' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate intraepithelial neoplasia' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'in situ carcinoma' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate intraepithelial neoplasia' http://www.ebi.ac.uk/efo/EFO_1000280 Gastrointestinal Hamartoma 'Gastrointestinal Hamartoma' SubClassOf 'hamartoma' 'Gastrointestinal Hamartoma' SubClassOf 'gastrointestinal polyp' 'Gastrointestinal Hamartoma' SubClassOf 'hamartoma' 'Gastrointestinal Hamartoma' SubClassOf 'gastrointestinal polyp' http://www.ebi.ac.uk/efo/EFO_1000281 Giant Cell Tumor of Soft Tissue 'Giant Cell Tumor of Soft Tissue' SubClassOf 'sarcoma' 'Giant Cell Tumor of Soft Tissue' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_1000288 Head and Neck Paraganglioma 'Head and Neck Paraganglioma' SubClassOf 'head and neck neoplasia' 'Head and Neck Paraganglioma' SubClassOf 'Paraganglioma' 'Head and Neck Paraganglioma' SubClassOf 'head and neck neoplasia' 'Head and Neck Paraganglioma' SubClassOf 'Paraganglioma' http://www.ebi.ac.uk/efo/EFO_1000289 Hemangiopericytic Neoplasm 'Hemangiopericytic Neoplasm' SubClassOf 'pericytic neoplasm' 'Hemangiopericytic Neoplasm' SubClassOf 'pericytic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000286 Granulocytic Sarcoma 'Granulocytic Sarcoma' SubClassOf 'myeloid sarcoma' 'Granulocytic Sarcoma' SubClassOf 'myeloid sarcoma' http://www.ebi.ac.uk/efo/EFO_1000287 Growth Hormone-Producing Pituitary Gland Adenoma 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'growth hormone-producing pituitary gland neoplasm' 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'Pituitary Gland Adenoma' 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'growth hormone-producing pituitary gland neoplasm' 'Growth Hormone-Producing Pituitary Gland Adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_1000284 Granular Cell Tumor 'Granular Cell Tumor' SubClassOf 'nerve sheath neoplasm' 'Granular Cell Tumor' SubClassOf 'nerve sheath neoplasm' http://www.ebi.ac.uk/efo/EFO_1000285 Granular Cell Tumor of the Neurohypophysis 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'posterior pituitary gland neoplasm' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'Granular Cell Tumor' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'posterior pituitary gland neoplasm' 'Granular Cell Tumor of the Neurohypophysis' SubClassOf 'Granular Cell Tumor' http://www.ebi.ac.uk/efo/EFO_1000293 Hepatoid Adenocarcinoma 'Hepatoid Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Hepatoid Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000294 HER2 Positive Breast Carcinoma 'HER2 Positive Breast Carcinoma' SubClassOf 'Breast Carcinoma by Gene Expression Profile' 'HER2 Positive Breast Carcinoma' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://www.ebi.ac.uk/efo/EFO_1000292 Hepatoblastoma 'Hepatoblastoma' SubClassOf 'embryonal neoplasm' 'Hepatoblastoma' SubClassOf 'embryonal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000299 Hyperplastic Polyp 'Hyperplastic Polyp' SubClassOf 'polyp' 'Hyperplastic Polyp' SubClassOf 'polyp' http://www.ebi.ac.uk/efo/EFO_1000297 Histiocytic and Dendritic Cell Neoplasm 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf 'lymphoid hemopathy' 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'Histiocytic and Dendritic Cell Neoplasm' SubClassOf 'lymphoid hemopathy' http://www.ebi.ac.uk/efo/EFO_1000298 Hydatidiform Mole 'Hydatidiform Mole' SubClassOf 'trophoblastic neoplasm' 'Hydatidiform Mole' SubClassOf 'trophoblastic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000295 Hidradenocarcinoma 'Hidradenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Hidradenocarcinoma' SubClassOf 'sweat gland carcinoma' 'Hidradenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Hidradenocarcinoma' SubClassOf 'sweat gland carcinoma' http://www.ebi.ac.uk/efo/EFO_1000296 High Grade Surface Osteosarcoma 'High Grade Surface Osteosarcoma' SubClassOf 'peripheral osteosarcoma' 'High Grade Surface Osteosarcoma' SubClassOf 'peripheral osteosarcoma' http://www.ebi.ac.uk/efo/EFO_0000400 diabetes mellitus 'diabetes mellitus' SubClassOf 'glucose metabolism disease' 'diabetes mellitus' SubClassOf 'endocrine pancreas disorder' 'diabetes mellitus' SubClassOf 'glucose metabolism disease' 'diabetes mellitus' SubClassOf 'endocrine pancreas disorder' http://www.ebi.ac.uk/efo/EFO_0000401 diabetic nephropathy 'diabetic nephropathy' SubClassOf 'metabolic disease' 'diabetic nephropathy' SubClassOf 'chronic kidney disease' 'diabetic nephropathy' SubClassOf 'metabolic disease' 'diabetic nephropathy' SubClassOf 'chronic kidney disease' http://www.ebi.ac.uk/efo/EFO_0000402 diffuse gastric adenocarcinoma 'diffuse gastric adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'diffuse gastric adenocarcinoma' SubClassOf 'diffuse type adenocarcinoma' 'diffuse gastric adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'diffuse gastric adenocarcinoma' SubClassOf 'diffuse type adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000403 diffuse large B-cell lymphoma 'diffuse large B-cell lymphoma' SubClassOf 'neoplasm of mature B-cells' 'diffuse large B-cell lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' 'diffuse large B-cell lymphoma' SubClassOf 'neoplasm of mature B-cells' 'diffuse large B-cell lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' http://www.ebi.ac.uk/efo/EFO_0000404 diffuse scleroderma 'diffuse scleroderma' SubClassOf 'systemic scleroderma' 'diffuse scleroderma' SubClassOf 'systemic scleroderma' http://www.ebi.ac.uk/efo/EFO_0000407 dilated cardiomyopathy 'dilated cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' 'dilated cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0000432 breast ductal carcinoma in situ 'breast ductal carcinoma in situ' SubClassOf 'adenocarcinoma in situ' 'breast ductal carcinoma in situ' SubClassOf 'breast carcinoma in situ' 'breast ductal carcinoma in situ' SubClassOf 'breast intraductal proliferative lesion' 'breast ductal carcinoma in situ' SubClassOf 'breast ductal adenocarcinoma' 'breast ductal carcinoma in situ' SubClassOf 'adenocarcinoma in situ' 'breast ductal carcinoma in situ' SubClassOf 'breast carcinoma in situ' 'breast ductal carcinoma in situ' SubClassOf 'breast intraductal proliferative lesion' 'breast ductal carcinoma in situ' SubClassOf 'breast ductal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000437 embryonal rhabdomyosarcoma 'embryonal rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'embryonal rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0021509 benign neoplasm of myocardium 'benign neoplasm of myocardium' SubClassOf 'benign neoplasm of heart' 'benign neoplasm of myocardium' SubClassOf 'neoplasm of myocardium' 'benign neoplasm of myocardium' SubClassOf 'benign neoplasm of heart' 'benign neoplasm of myocardium' SubClassOf 'neoplasm of myocardium' http://purl.obolibrary.org/obo/MONDO_0021501 benign neoplasm of small intestine 'benign neoplasm of small intestine' SubClassOf 'intestinal benign neoplasm' 'benign neoplasm of small intestine' SubClassOf 'small intestine neoplasm' 'benign neoplasm of small intestine' SubClassOf 'intestinal benign neoplasm' 'benign neoplasm of small intestine' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021503 benign neoplasm of gallbladder 'benign neoplasm of gallbladder' SubClassOf 'benign digestive system neoplasm' 'benign neoplasm of gallbladder' SubClassOf 'gallbladder neoplasm' 'benign neoplasm of gallbladder' SubClassOf 'benign digestive system neoplasm' 'benign neoplasm of gallbladder' SubClassOf 'gallbladder neoplasm' http://purl.obolibrary.org/obo/MONDO_0021505 benign neoplasm of endocardium 'benign neoplasm of endocardium' SubClassOf 'neoplasm of endocardium' 'benign neoplasm of endocardium' SubClassOf 'benign neoplasm of heart' 'benign neoplasm of endocardium' SubClassOf 'neoplasm of endocardium' 'benign neoplasm of endocardium' SubClassOf 'benign neoplasm of heart' http://purl.obolibrary.org/obo/MONDO_0021506 benign neoplasm of spinal cord 'benign neoplasm of spinal cord' SubClassOf 'spinal cord neoplasm' 'benign neoplasm of spinal cord' SubClassOf 'spinal cord neoplasm' http://purl.obolibrary.org/obo/MONDO_0021507 benign neoplasm of brain stem 'benign neoplasm of brain stem' SubClassOf 'Benign Brain Neoplasm' 'benign neoplasm of brain stem' SubClassOf 'brain stem neoplasm' 'benign neoplasm of brain stem' SubClassOf 'Benign Brain Neoplasm' 'benign neoplasm of brain stem' SubClassOf 'brain stem neoplasm' http://purl.obolibrary.org/obo/MONDO_0021508 benign neoplasm of epicardium 'benign neoplasm of epicardium' SubClassOf 'benign neoplasm of heart' 'benign neoplasm of epicardium' SubClassOf 'benign neoplasm of pericardium' 'benign neoplasm of epicardium' SubClassOf 'neoplasm of epicardium' 'benign neoplasm of epicardium' SubClassOf 'benign neoplasm of heart' 'benign neoplasm of epicardium' SubClassOf 'benign neoplasm of pericardium' 'benign neoplasm of epicardium' SubClassOf 'neoplasm of epicardium' http://purl.obolibrary.org/obo/MONDO_0021520 benign neoplasm of floor of mouth 'benign neoplasm of floor of mouth' SubClassOf 'neoplasm of floor of mouth' 'benign neoplasm of floor of mouth' SubClassOf 'neoplasm of floor of mouth' http://purl.obolibrary.org/obo/MONDO_0021521 benign neoplasm of mediastinum 'benign neoplasm of mediastinum' SubClassOf 'neoplasm of mediastinum' 'benign neoplasm of mediastinum' SubClassOf 'thoracic benign neoplasm' 'benign neoplasm of mediastinum' SubClassOf 'neoplasm of mediastinum' 'benign neoplasm of mediastinum' SubClassOf 'thoracic benign neoplasm' http://www.ebi.ac.uk/efo/EFO_1000202 Complex Endometrial Hyperplasia 'Complex Endometrial Hyperplasia' SubClassOf 'hyperplasia' 'Complex Endometrial Hyperplasia' SubClassOf 'hyperplasia' http://www.ebi.ac.uk/efo/EFO_1000203 Conjunctival Disorder 'Conjunctival Disorder' SubClassOf 'eye disease' 'Conjunctival Disorder' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0000474 epilepsy 'epilepsy' SubClassOf 'brain disease' 'epilepsy' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000200 Combined Lung Carcinoma 'Combined Lung Carcinoma' SubClassOf 'neuroendocrine carcinoma' 'Combined Lung Carcinoma' SubClassOf 'pulmonary neuroendocrine tumor' 'Combined Lung Carcinoma' SubClassOf 'lung carcinoma' 'Combined Lung Carcinoma' SubClassOf 'Malignant Mixed Neoplasm' 'Combined Lung Carcinoma' SubClassOf 'neuroendocrine carcinoma' 'Combined Lung Carcinoma' SubClassOf 'pulmonary neuroendocrine tumor' 'Combined Lung Carcinoma' SubClassOf 'lung carcinoma' 'Combined Lung Carcinoma' SubClassOf 'Malignant Mixed Neoplasm' http://www.ebi.ac.uk/efo/EFO_0000478 esophageal adenocarcinoma 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' 'esophageal adenocarcinoma' SubClassOf 'esophageal carcinoma' 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' 'esophageal adenocarcinoma' SubClassOf 'esophageal carcinoma' http://www.ebi.ac.uk/efo/EFO_0000479 essential thrombocythemia 'essential thrombocythemia' SubClassOf 'thrombocytosis disease' 'essential thrombocythemia' SubClassOf 'chronic myeloproliferative disorder' 'essential thrombocythemia' SubClassOf 'thrombocytosis disease' 'essential thrombocythemia' SubClassOf 'chronic myeloproliferative disorder' http://www.ebi.ac.uk/efo/EFO_1000208 Cortisol-Producing Adrenal Cortex Adenoma 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' http://www.ebi.ac.uk/efo/EFO_1000209 Craniopharyngioma 'Craniopharyngioma' SubClassOf 'squamous cell neoplasm' 'Craniopharyngioma' SubClassOf 'central nervous system organ benign neoplasm' 'Craniopharyngioma' SubClassOf 'sella turcica neoplasm' 'Craniopharyngioma' SubClassOf 'squamous cell neoplasm' 'Craniopharyngioma' SubClassOf 'central nervous system organ benign neoplasm' 'Craniopharyngioma' SubClassOf 'sella turcica neoplasm' http://www.ebi.ac.uk/efo/EFO_1000206 Conjunctival Squamous Cell Carcinoma 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'conjunctival cancer' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'eye carcinoma' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'conjunctival cancer' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'eye carcinoma' 'Conjunctival Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000204 Conjunctival Melanoma 'Conjunctival Melanoma' SubClassOf 'Ocular Melanoma' 'Conjunctival Melanoma' SubClassOf 'conjunctival cancer' 'Conjunctival Melanoma' SubClassOf 'Ocular Melanoma' 'Conjunctival Melanoma' SubClassOf 'conjunctival cancer' http://www.ebi.ac.uk/efo/EFO_1000205 Conjunctival Nevus 'Conjunctival Nevus' SubClassOf 'melanocytic nevus' 'Conjunctival Nevus' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0021523 benign neoplasm of pharynx 'benign neoplasm of pharynx' SubClassOf 'pharynx neoplasm' 'benign neoplasm of pharynx' SubClassOf 'pharynx neoplasm' http://purl.obolibrary.org/obo/MONDO_0021525 benign neoplasm of corpus uteri 'benign neoplasm of corpus uteri' SubClassOf 'corpus uteri neoplasm' 'benign neoplasm of corpus uteri' SubClassOf 'uterine benign neoplasm' 'benign neoplasm of corpus uteri' SubClassOf 'corpus uteri neoplasm' 'benign neoplasm of corpus uteri' SubClassOf 'uterine benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021527 benign neoplasm of meninges 'benign neoplasm of meninges' SubClassOf 'meningeal neoplasm' 'benign neoplasm of meninges' SubClassOf 'meningeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021528 benign neoplasm of male breast 'benign neoplasm of male breast' SubClassOf 'breast benign neoplasm' 'benign neoplasm of male breast' SubClassOf 'breast benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021510 benign neoplasm of prostate 'benign neoplasm of prostate' SubClassOf 'prostate neoplasm' 'benign neoplasm of prostate' SubClassOf 'prostate neoplasm' http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland 'benign neoplasm of adrenal gland' SubClassOf 'adrenal gland neoplasm' 'benign neoplasm of adrenal gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of adrenal gland' SubClassOf 'adrenal gland neoplasm' 'benign neoplasm of adrenal gland' SubClassOf 'benign endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000214 Dedifferentiated Solitary Fibrous Tumor 'Dedifferentiated Solitary Fibrous Tumor' SubClassOf 'solitary fibrous tumor' 'Dedifferentiated Solitary Fibrous Tumor' SubClassOf 'solitary fibrous tumor' http://www.ebi.ac.uk/efo/EFO_0000464 emphysema 'emphysema' SubClassOf 'chronic obstructive pulmonary disease' 'emphysema' SubClassOf 'chronic obstructive pulmonary disease' http://www.ebi.ac.uk/efo/EFO_1000212 Cutaneous Undifferentiated Pleomorphic Sarcoma 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'undifferentiated pleomorphic sarcoma' 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'Skin Sarcoma' 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'undifferentiated pleomorphic sarcoma' 'Cutaneous Undifferentiated Pleomorphic Sarcoma' SubClassOf 'Skin Sarcoma' http://www.ebi.ac.uk/efo/EFO_0000465 endocarditis 'endocarditis' SubClassOf 'endocardium disorder' 'endocarditis' SubClassOf 'endocardium disorder' http://www.ebi.ac.uk/efo/EFO_0000466 endometrioid carcinoma 'endometrioid carcinoma' SubClassOf 'Genital neoplasm, female' 'endometrioid carcinoma' SubClassOf 'adenocarcinoma' 'endometrioid carcinoma' SubClassOf 'Genital neoplasm, female' 'endometrioid carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000210 Cribriform Carcinoma 'Cribriform Carcinoma' SubClassOf 'carcinoma' 'Cribriform Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000219 Digestive System Mixed Adenoneuroendocrine Carcinoma 'Digestive System Mixed Adenoneuroendocrine Carcinoma' SubClassOf 'Digestive System Carcinoma' 'Digestive System Mixed Adenoneuroendocrine Carcinoma' SubClassOf 'Digestive System Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000217 Digestive System Adenoma 'Digestive System Adenoma' SubClassOf 'adenoma' 'Digestive System Adenoma' SubClassOf 'digestive system neoplasm' 'Digestive System Adenoma' EquivalentTo 'adenoma' and ('disease has location' some 'digestive tract') 'Digestive System Adenoma' SubClassOf 'adenoma' 'Digestive System Adenoma' SubClassOf 'digestive system neoplasm' 'Digestive System Adenoma' EquivalentTo 'adenoma' and ('disease has location' some 'digestive tract') http://www.ebi.ac.uk/efo/EFO_1000218 Digestive System Carcinoma 'Digestive System Carcinoma' SubClassOf 'digestive system cancer' 'Digestive System Carcinoma' SubClassOf 'carcinoma' 'Digestive System Carcinoma' SubClassOf 'digestive system cancer' 'Digestive System Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000215 Desmoplastic Ameloblastoma 'Desmoplastic Ameloblastoma' SubClassOf 'ameloblastoma' 'Desmoplastic Ameloblastoma' SubClassOf 'ameloblastoma' http://purl.obolibrary.org/obo/MONDO_0021512 benign neoplasm of thymus 'benign neoplasm of thymus' SubClassOf 'thymus neoplasm' 'benign neoplasm of thymus' SubClassOf 'thymus neoplasm' http://purl.obolibrary.org/obo/MONDO_0021513 benign neoplasm of tonsil 'benign neoplasm of tonsil' SubClassOf 'tonsil neoplasm' 'benign neoplasm of tonsil' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of tonsil' SubClassOf 'benign neoplasm of pharynx' 'benign neoplasm of tonsil' SubClassOf 'tonsil neoplasm' 'benign neoplasm of tonsil' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of tonsil' SubClassOf 'benign neoplasm of pharynx' http://purl.obolibrary.org/obo/MONDO_0021514 benign neoplasm of pericardium 'benign neoplasm of pericardium' SubClassOf 'thoracic benign neoplasm' 'benign neoplasm of pericardium' SubClassOf 'neoplasm of pericardium' 'benign neoplasm of pericardium' SubClassOf 'thoracic benign neoplasm' 'benign neoplasm of pericardium' SubClassOf 'neoplasm of pericardium' http://purl.obolibrary.org/obo/MONDO_0021515 benign neoplasm of ethmoidal sinus 'benign neoplasm of ethmoidal sinus' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of ethmoidal sinus' SubClassOf 'ethmoidal sinus neoplasm' 'benign neoplasm of ethmoidal sinus' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of ethmoidal sinus' SubClassOf 'ethmoidal sinus neoplasm' http://purl.obolibrary.org/obo/MONDO_0021516 benign neoplasm of glottis 'benign neoplasm of glottis' SubClassOf 'benign laryngeal neoplasm' 'benign neoplasm of glottis' SubClassOf 'glottis neoplasm' 'benign neoplasm of glottis' SubClassOf 'benign laryngeal neoplasm' 'benign neoplasm of glottis' SubClassOf 'glottis neoplasm' http://purl.obolibrary.org/obo/MONDO_0021517 benign neoplasm of trachea 'benign neoplasm of trachea' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of trachea' SubClassOf 'Tracheal neoplasm' 'benign neoplasm of trachea' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of trachea' SubClassOf 'Tracheal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021540 hamartoma of lung 'hamartoma of lung' SubClassOf 'hamartoma' 'hamartoma of lung' SubClassOf 'lung neoplasm' 'hamartoma of lung' SubClassOf 'hamartoma' 'hamartoma of lung' SubClassOf 'lung neoplasm' http://purl.obolibrary.org/obo/MONDO_0021541 hemangioma of retina 'hemangioma of retina' SubClassOf 'hemangioma' 'hemangioma of retina' SubClassOf 'benign neoplasm of retina' 'hemangioma of retina' SubClassOf 'hemangioma' 'hemangioma of retina' SubClassOf 'benign neoplasm of retina' http://purl.obolibrary.org/obo/MONDO_0021542 hemangioma of choroid 'hemangioma of choroid' SubClassOf 'hemangioma' 'hemangioma of choroid' SubClassOf 'benign neoplasm of choroid' 'hemangioma of choroid' SubClassOf 'hemangioma' 'hemangioma of choroid' SubClassOf 'benign neoplasm of choroid' http://purl.obolibrary.org/obo/MONDO_0021543 hemangioma of gingiva 'hemangioma of gingiva' SubClassOf 'hemangioma' 'hemangioma of gingiva' SubClassOf 'benign neoplasm of gum' 'hemangioma of gingiva' SubClassOf 'hemangioma' 'hemangioma of gingiva' SubClassOf 'benign neoplasm of gum' http://www.ebi.ac.uk/efo/EFO_0000373 congestive heart failure 'congestive heart failure' SubClassOf 'disease has major feature' some 'Congestive heart failure' 'congestive heart failure' SubClassOf 'heart failure' 'congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Congestive heart failure' 'congestive heart failure' SubClassOf 'heart failure' http://purl.obolibrary.org/obo/MONDO_0021545 myomatous neoplasm 'myomatous neoplasm' SubClassOf 'mesenchymal cell neoplasm' 'myomatous neoplasm' SubClassOf 'mesenchymal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0021546 ependymal tumor of spinal cord 'ependymal tumor of spinal cord' SubClassOf 'ependymal neoplasm' 'ependymal tumor of spinal cord' SubClassOf 'spinal cord glioma' 'ependymal tumor of spinal cord' SubClassOf 'ependymal neoplasm' 'ependymal tumor of spinal cord' SubClassOf 'spinal cord glioma' http://purl.obolibrary.org/obo/MONDO_0021547 amelogenesis imperfecta type 3B 'amelogenesis imperfecta type 3B' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta type 3B' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0021548 total early-onset cataract 'total early-onset cataract' SubClassOf 'early-onset non-syndromic cataract' 'total early-onset cataract' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0021531 fibroma of lung 'fibroma of lung' SubClassOf 'fibroma' 'fibroma of lung' SubClassOf 'fibroma' http://purl.obolibrary.org/obo/MONDO_0021532 fibroma of prostate 'fibroma of prostate' SubClassOf 'benign neoplasm of prostate' 'fibroma of prostate' SubClassOf 'fibroma' 'fibroma of prostate' SubClassOf 'benign neoplasm of prostate' 'fibroma of prostate' SubClassOf 'fibroma' http://purl.obolibrary.org/obo/MONDO_0021533 intestinal neuroendocrine tumor G1 'intestinal neuroendocrine tumor G1' SubClassOf 'carcinoid tumor' 'intestinal neuroendocrine tumor G1' SubClassOf 'intestinal neuroendocrine neoplasm' 'intestinal neuroendocrine tumor G1' SubClassOf 'carcinoid tumor' 'intestinal neuroendocrine tumor G1' SubClassOf 'intestinal neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0000364 colon mucinous adenocarcinoma 'colon mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'colon mucinous adenocarcinoma' SubClassOf 'colon adenocarcinoma' 'colon mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'colon mucinous adenocarcinoma' SubClassOf 'colon adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0021534 rectal neuroendocrine tumor G1 'rectal neuroendocrine tumor G1' SubClassOf 'neuroendocrine tumor of rectum, well differentiated, low or intermediate grade' 'rectal neuroendocrine tumor G1' SubClassOf 'Colorectal Neuroendocrine Tumor G1' 'rectal neuroendocrine tumor G1' SubClassOf 'neuroendocrine tumor of rectum, well differentiated, low or intermediate grade' 'rectal neuroendocrine tumor G1' SubClassOf 'Colorectal Neuroendocrine Tumor G1' http://purl.obolibrary.org/obo/MONDO_0021535 pancreatic neuroendocrine tumor G1 'pancreatic neuroendocrine tumor G1' SubClassOf 'pancreatic neuroendocrine tumor' 'pancreatic neuroendocrine tumor G1' SubClassOf 'pancreatic neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0021537 undifferentiated carcinoma of nasopharynx 'undifferentiated carcinoma of nasopharynx' SubClassOf 'nasopharyngeal carcinoma' 'undifferentiated carcinoma of nasopharynx' SubClassOf 'nasopharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0021538 verrucous carcinoma of oral cavity 'verrucous carcinoma of oral cavity' SubClassOf 'verrucous carcinoma' 'verrucous carcinoma of oral cavity' SubClassOf 'oral squamous cell carcinoma' 'verrucous carcinoma of oral cavity' SubClassOf 'verrucous carcinoma' 'verrucous carcinoma of oral cavity' SubClassOf 'oral squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0021539 hamartoma of skin appendage 'hamartoma of skin appendage' SubClassOf 'hamartoma' 'hamartoma of skin appendage' SubClassOf 'hamartoma' http://www.ebi.ac.uk/efo/EFO_0000394 dedifferentiated chondrosarcoma 'dedifferentiated chondrosarcoma' SubClassOf 'bone sarcoma' 'dedifferentiated chondrosarcoma' SubClassOf 'bone sarcoma' http://www.ebi.ac.uk/efo/EFO_0000398 dermatomyositis 'dermatomyositis' SubClassOf 'rheumatic disease' 'dermatomyositis' SubClassOf 'disease has location' some 'musculature' 'dermatomyositis' SubClassOf 'polymyositis' 'dermatomyositis' SubClassOf 'rheumatic disease' 'dermatomyositis' SubClassOf 'polymyositis' 'dermatomyositis' SubClassOf 'disease has location' some 'musculature' http://purl.obolibrary.org/obo/MONDO_0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'disease shares features of' some 'X-linked Emery-Dreifuss muscular dystrophy' 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'X-linked Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0021553 transverse myelitis 'transverse myelitis' SubClassOf 'Myelitis' 'transverse myelitis' SubClassOf 'Myelitis' http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease 'Crohn's disease' SubClassOf 'inflammatory bowel disease' 'Crohn's disease' SubClassOf 'inflammatory bowel disease' http://www.ebi.ac.uk/efo/EFO_0000389 cutaneous melanoma 'cutaneous melanoma' SubClassOf 'skin cancer' 'cutaneous melanoma' SubClassOf 'melanocytic skin neoplasm' 'cutaneous melanoma' SubClassOf 'melanoma' 'cutaneous melanoma' SubClassOf 'skin cancer' 'cutaneous melanoma' SubClassOf 'melanocytic skin neoplasm' 'cutaneous melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm 'connective tissue neoplasm' SubClassOf 'neoplasm' 'connective tissue neoplasm' SubClassOf 'connective tissue disease' 'connective tissue neoplasm' SubClassOf 'neoplasm' 'connective tissue neoplasm' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/MONDO_0021583 melanocytic skin neoplasm 'melanocytic skin neoplasm' SubClassOf 'melanocytic neoplasm' 'melanocytic skin neoplasm' SubClassOf 'skin neoplasm' 'melanocytic skin neoplasm' SubClassOf 'melanocytic neoplasm' 'melanocytic skin neoplasm' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0021576 fallopian tube endometrioid tumor 'fallopian tube endometrioid tumor' SubClassOf 'fallopian tube neoplasm' 'fallopian tube endometrioid tumor' SubClassOf 'fallopian tube neoplasm' http://www.ebi.ac.uk/efo/EFO_1000183 Colon Dysplasia 'Colon Dysplasia' SubClassOf 'colonic disorder' 'Colon Dysplasia' SubClassOf 'colonic disorder' http://www.ebi.ac.uk/efo/EFO_1000184 Colon Inflammatory Polyp 'Colon Inflammatory Polyp' SubClassOf 'polyp of colon' 'Colon Inflammatory Polyp' SubClassOf 'colonic neoplasm' 'Colon Inflammatory Polyp' SubClassOf 'polyp of colon' 'Colon Inflammatory Polyp' SubClassOf 'colonic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000181 Clear Cell Papillary Cystadenoma 'Clear Cell Papillary Cystadenoma' SubClassOf 'papillary cystadenoma' 'Clear Cell Papillary Cystadenoma' SubClassOf 'papillary cystadenoma' http://www.ebi.ac.uk/efo/EFO_1000182 Colon Burkitt Lymphoma 'Colon Burkitt Lymphoma' SubClassOf 'colon lymphoma' 'Colon Burkitt Lymphoma' SubClassOf 'Burkitts lymphoma' 'Colon Burkitt Lymphoma' SubClassOf 'colon lymphoma' 'Colon Burkitt Lymphoma' SubClassOf 'Burkitts lymphoma' http://www.ebi.ac.uk/efo/EFO_1000189 Colon Sessile Serrated Adenoma/Polyp 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'polyp of colon' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'Colorectal Sessile Serrated Adenoma/Polyp' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'colon adenoma' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'polyp of colon' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'Colorectal Sessile Serrated Adenoma/Polyp' 'Colon Sessile Serrated Adenoma/Polyp' SubClassOf 'colon adenoma' http://www.ebi.ac.uk/efo/EFO_1000188 Colon Neuroendocrine Tumor G1 'Colon Neuroendocrine Tumor G1' SubClassOf 'Colorectal Neuroendocrine Tumor G1' 'Colon Neuroendocrine Tumor G1' SubClassOf 'Colorectal Neuroendocrine Tumor G1' http://www.ebi.ac.uk/efo/EFO_1000185 Colon Juvenile Polyp 'Colon Juvenile Polyp' SubClassOf 'Colorectal Juvenile Polyp' 'Colon Juvenile Polyp' SubClassOf 'polyp of colon' 'Colon Juvenile Polyp' SubClassOf 'Colorectal Juvenile Polyp' 'Colon Juvenile Polyp' SubClassOf 'polyp of colon' http://www.ebi.ac.uk/efo/EFO_1000186 Colon Mucosa-Associated Lymphoid Tissue Lymphoma 'Colon Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'colon lymphoma' 'Colon Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'colon lymphoma' http://www.ebi.ac.uk/efo/EFO_1000194 Colorectal Juvenile Polyp 'Colorectal Juvenile Polyp' SubClassOf 'Juvenile Polyp' 'Colorectal Juvenile Polyp' SubClassOf 'Colorectal Hamartoma' 'Colorectal Juvenile Polyp' SubClassOf 'Juvenile Polyp' 'Colorectal Juvenile Polyp' SubClassOf 'Colorectal Hamartoma' http://www.ebi.ac.uk/efo/EFO_1000195 Colorectal Neuroendocrine Tumor G1 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'colorectal neoplasm' 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'colorectal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000192 Colorectal Gastrointestinal Stromal Tumor 'Colorectal Gastrointestinal Stromal Tumor' SubClassOf 'colorectal neoplasm' 'Colorectal Gastrointestinal Stromal Tumor' SubClassOf 'colorectal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000193 Colorectal Hamartoma 'Colorectal Hamartoma' SubClassOf 'polyp of large intestine' 'Colorectal Hamartoma' SubClassOf 'Gastrointestinal Hamartoma' 'Colorectal Hamartoma' SubClassOf 'polyp of large intestine' 'Colorectal Hamartoma' SubClassOf 'Gastrointestinal Hamartoma' http://www.ebi.ac.uk/efo/EFO_1000190 Colorectal Adenosquamous Carcinoma 'Colorectal Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Colorectal Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000191 Colorectal Diffuse Large B-Cell Lymphoma 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000198 Colorectal Squamous Cell Carcinoma 'Colorectal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Colorectal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000199 Columnar Cell Hyperplasia of the Breast 'Columnar Cell Hyperplasia of the Breast' SubClassOf 'hyperplasia' 'Columnar Cell Hyperplasia of the Breast' SubClassOf 'hyperplasia' http://www.ebi.ac.uk/efo/EFO_1000196 Colorectal Serrated Adenocarcinoma 'Colorectal Serrated Adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'Colorectal Serrated Adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000197 Colorectal Sessile Serrated Adenoma/Polyp 'Colorectal Sessile Serrated Adenoma/Polyp' SubClassOf 'colorectal adenoma' 'Colorectal Sessile Serrated Adenoma/Polyp' SubClassOf 'colorectal adenoma' http://www.ebi.ac.uk/efo/EFO_1000345 Major Salivary Gland Carcinoma ex Pleomorphic Adenoma 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' http://www.ebi.ac.uk/efo/EFO_1000346 Major Salivary Gland Mucoepidermoid Carcinoma 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'salivary gland mucoepidermoid carcinoma' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Major Salivary Gland Mucoepidermoid Carcinoma' SubClassOf 'salivary gland mucoepidermoid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000344 Major Salivary Gland Carcinoma 'Major Salivary Gland Carcinoma' SubClassOf 'salivary gland carcinoma' 'Major Salivary Gland Carcinoma' EquivalentTo 'carcinoma' and ('disease has location' some 'major salivary gland') 'Major Salivary Gland Carcinoma' SubClassOf 'salivary gland carcinoma' 'Major Salivary Gland Carcinoma' EquivalentTo 'carcinoma' and ('disease has location' some 'major salivary gland') http://www.ebi.ac.uk/efo/EFO_1000340 Lymphoepithelioma-Like Lung Carcinoma 'Lymphoepithelioma-Like Lung Carcinoma' SubClassOf 'large cell lung carcinoma' 'Lymphoepithelioma-Like Lung Carcinoma' SubClassOf 'large cell lung carcinoma' http://www.ebi.ac.uk/efo/EFO_1000347 Malignancy in Giant Cell Tumor of Bone 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'malignant giant cell tumor' 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'bone sarcoma' 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'malignant giant cell tumor' 'Malignancy in Giant Cell Tumor of Bone' SubClassOf 'bone sarcoma' http://www.ebi.ac.uk/efo/EFO_1000348 Malignant Adrenal Gland Pheochromocytoma 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' 'Malignant Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' http://www.ebi.ac.uk/efo/EFO_1000356 Malignant Mixed Neoplasm 'Malignant Mixed Neoplasm' SubClassOf 'mixed neoplasm' 'Malignant Mixed Neoplasm' SubClassOf 'cancer' 'Malignant Mixed Neoplasm' SubClassOf 'mixed neoplasm' 'Malignant Mixed Neoplasm' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1000354 Malignant Laryngeal Neoplasm 'Malignant Laryngeal Neoplasm' SubClassOf 'respiratory system cancer' 'Malignant Laryngeal Neoplasm' SubClassOf 'laryngeal neoplasm' 'Malignant Laryngeal Neoplasm' SubClassOf 'respiratory system cancer' 'Malignant Laryngeal Neoplasm' SubClassOf 'laryngeal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000355 Malignant Mesothelioma 'Malignant Mesothelioma' SubClassOf 'mesothelioma' 'Malignant Mesothelioma' SubClassOf 'mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000352 Malignant Germ Cell Tumor 'Malignant Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Malignant Germ Cell Tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0800096 abnormal mineralization disorder 'abnormal mineralization disorder' SubClassOf 'skeletal dysplasia' 'abnormal mineralization disorder' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_1000353 Malignant Jugulotympanic Paraganglioma 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'malignant endocrine neoplasm' 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'jugulotympanic paraganglioma' 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'malignant endocrine neoplasm' 'Malignant Jugulotympanic Paraganglioma' SubClassOf 'jugulotympanic paraganglioma' http://www.ebi.ac.uk/efo/EFO_1000350 Malignant Bone Neoplasm 'Malignant Bone Neoplasm' SubClassOf 'bone neoplasm' 'Malignant Bone Neoplasm' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0800088 lysosomal storage disease with skeletal involvement 'lysosomal storage disease with skeletal involvement' SubClassOf 'skeletal dysplasia' 'lysosomal storage disease with skeletal involvement' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_1000359 Malignant Pancreatic Neoplasm 'Malignant Pancreatic Neoplasm' SubClassOf 'digestive system cancer' 'Malignant Pancreatic Neoplasm' SubClassOf 'pancreatic neoplasm' 'Malignant Pancreatic Neoplasm' SubClassOf 'digestive system cancer' 'Malignant Pancreatic Neoplasm' SubClassOf 'pancreatic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000367 Mediastinal Neuroblastoma 'Mediastinal Neuroblastoma' SubClassOf 'mediastinal neural neoplasm' 'Mediastinal Neuroblastoma' SubClassOf 'mediastinal cancer' 'Mediastinal Neuroblastoma' SubClassOf 'neuroblastoma' 'Mediastinal Neuroblastoma' SubClassOf 'mediastinal neural neoplasm' 'Mediastinal Neuroblastoma' SubClassOf 'mediastinal cancer' 'Mediastinal Neuroblastoma' SubClassOf 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_1000368 Medullomyoblastoma with Myogenic Differentiation 'Medullomyoblastoma with Myogenic Differentiation' SubClassOf 'medulloblastoma' 'Medullomyoblastoma with Myogenic Differentiation' SubClassOf 'medulloblastoma' http://www.ebi.ac.uk/efo/EFO_1000365 Maxillary Sinus Adenoid Cystic Carcinoma 'Maxillary Sinus Adenoid Cystic Carcinoma' SubClassOf 'Paranasal Sinus Adenoid Cystic Carcinoma' 'Maxillary Sinus Adenoid Cystic Carcinoma' SubClassOf 'maxillary sinus carcinoma' 'Maxillary Sinus Adenoid Cystic Carcinoma' SubClassOf 'Paranasal Sinus Adenoid Cystic Carcinoma' 'Maxillary Sinus Adenoid Cystic Carcinoma' SubClassOf 'maxillary sinus carcinoma' http://www.ebi.ac.uk/efo/EFO_1000366 Mediastinal Malignant Germ Cell Tumor 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'mediastinal germ cell tumor' 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'mediastinal cancer' 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'mediastinal germ cell tumor' 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'mediastinal cancer' http://www.ebi.ac.uk/efo/EFO_1000363 Malignant Urinary System Neoplasm 'Malignant Urinary System Neoplasm' SubClassOf 'urinary system neoplasm' 'Malignant Urinary System Neoplasm' SubClassOf 'cancer' 'Malignant Urinary System Neoplasm' SubClassOf 'urinary system neoplasm' 'Malignant Urinary System Neoplasm' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1000364 Mast Cell Sarcoma 'Mast Cell Sarcoma' SubClassOf 'sarcoma' 'Mast Cell Sarcoma' SubClassOf 'Mastocytosis' 'Mast Cell Sarcoma' SubClassOf 'sarcoma' 'Mast Cell Sarcoma' SubClassOf 'Mastocytosis' http://www.ebi.ac.uk/efo/EFO_1000362 Malignant Pleural Neoplasm 'Malignant Pleural Neoplasm' SubClassOf 'respiratory system cancer' 'Malignant Pleural Neoplasm' SubClassOf 'pleural neoplasm' 'Malignant Pleural Neoplasm' SubClassOf 'thoracic cancer' 'Malignant Pleural Neoplasm' SubClassOf 'respiratory system cancer' 'Malignant Pleural Neoplasm' SubClassOf 'pleural neoplasm' 'Malignant Pleural Neoplasm' SubClassOf 'thoracic cancer' http://www.ebi.ac.uk/efo/EFO_1000378 Middle Ear Squamous Cell Carcinoma 'Middle Ear Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'Middle Ear Squamous Cell Carcinoma' SubClassOf 'middle ear carcinoma' 'Middle Ear Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'Middle Ear Squamous Cell Carcinoma' SubClassOf 'middle ear carcinoma' http://www.ebi.ac.uk/efo/EFO_1000379 Minor Salivary Gland Adenocarcinoma 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000377 Micropapillary Serous Carcinoma 'Micropapillary Serous Carcinoma' SubClassOf 'adenocarcinoma' 'Micropapillary Serous Carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000373 Metanephric Adenoma 'Metanephric Adenoma' SubClassOf 'renal adenoma' 'Metanephric Adenoma' SubClassOf 'renal adenoma' http://www.ebi.ac.uk/efo/EFO_1000382 Mixed Lobular and Ductal Breast Carcinoma 'Mixed Lobular and Ductal Breast Carcinoma' SubClassOf 'breast adenocarcinoma' 'Mixed Lobular and Ductal Breast Carcinoma' SubClassOf 'Malignant Mixed Neoplasm' 'Mixed Lobular and Ductal Breast Carcinoma' SubClassOf 'breast adenocarcinoma' 'Mixed Lobular and Ductal Breast Carcinoma' SubClassOf 'Malignant Mixed Neoplasm' http://www.ebi.ac.uk/efo/EFO_1000380 Mixed Cell Uveal Melanoma 'Mixed Cell Uveal Melanoma' SubClassOf 'Uveal Melanoma' 'Mixed Cell Uveal Melanoma' SubClassOf 'Uveal Melanoma' http://www.ebi.ac.uk/efo/EFO_1000389 Myofibroma 'Myofibroma' SubClassOf 'benign perivascular tumor' 'Myofibroma' SubClassOf 'leiomyoma' 'Myofibroma' SubClassOf 'benign perivascular tumor' 'Myofibroma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/MONDO_0800063 primordial dwarfism and slender bone disorder 'primordial dwarfism and slender bone disorder' SubClassOf 'skeletal dysplasia' 'primordial dwarfism and slender bone disorder' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_1000385 Mixed Tumor of the Skin 'Mixed Tumor of the Skin' SubClassOf 'mixed neoplasm' 'Mixed Tumor of the Skin' SubClassOf 'eccrine sweat gland neoplasm' 'Mixed Tumor of the Skin' SubClassOf 'mixed neoplasm' 'Mixed Tumor of the Skin' SubClassOf 'eccrine sweat gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0800064 osteogenesis imperfecta and a reduction of bone mineral density. 'osteogenesis imperfecta and a reduction of bone mineral density.' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta and a reduction of bone mineral density.' SubClassOf 'skeletal dysplasia' 'osteogenesis imperfecta and a reduction of bone mineral density.' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta and a reduction of bone mineral density.' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_1000386 Mucinous Gastric Adenocarcinoma 'Mucinous Gastric Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Mucinous Gastric Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Mucinous Gastric Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Mucinous Gastric Adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.ebi.ac.uk/efo/EFO_1000383 Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_1000384 Mixed Tumor of the Salivary Gland 'Mixed Tumor of the Salivary Gland' SubClassOf 'salivary gland disease' 'Mixed Tumor of the Salivary Gland' SubClassOf 'head and neck neoplasia' 'Mixed Tumor of the Salivary Gland' SubClassOf 'salivary gland disease' 'Mixed Tumor of the Salivary Gland' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_1000393 Neuroblastic Tumor 'Neuroblastic Tumor' SubClassOf 'primitive neuroectodermal tumor' 'Neuroblastic Tumor' SubClassOf 'primitive neuroectodermal tumor' http://www.ebi.ac.uk/efo/EFO_1000391 Nasal Cavity Polyp 'Nasal Cavity Polyp' SubClassOf 'polyp' 'Nasal Cavity Polyp' SubClassOf 'nasal cavity disorder' 'Nasal Cavity Polyp' SubClassOf 'polyp' 'Nasal Cavity Polyp' SubClassOf 'nasal cavity disorder' http://www.ebi.ac.uk/efo/EFO_1000399 Non-Functioning Adrenal Cortex Adenoma 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'non-functioning endocrine neoplasm' 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' 'Non-Functioning Adrenal Cortex Adenoma' SubClassOf 'non-functioning endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000396 Nevus of Ota 'Nevus of Ota' SubClassOf 'melanocytic nevus' 'Nevus of Ota' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_1000397 Non-Cutaneous Melanoma 'Non-Cutaneous Melanoma' SubClassOf 'melanoma' 'Non-Cutaneous Melanoma' SubClassOf 'melanoma' http://www.ebi.ac.uk/efo/EFO_1000394 Neurothekeoma 'Neurothekeoma' SubClassOf 'nerve sheath neoplasm' 'Neurothekeoma' SubClassOf 'nerve sheath neoplasm' http://www.ebi.ac.uk/efo/EFO_1000395 Nevus of Ito 'Nevus of Ito' SubClassOf 'disease shares features of' some 'Nevus of Ota' 'Nevus of Ito' SubClassOf 'melanocytic nevus' 'Nevus of Ito' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Nevus of Ota' 'Nevus of Ito' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0800045 autoinflammatory syndrome, familial, Behcet-like 1 'autoinflammatory syndrome, familial, Behcet-like 1' SubClassOf 'autoinflammatory syndrome, familial, Behcet-like' 'autoinflammatory syndrome, familial, Behcet-like 1' SubClassOf 'autoinflammatory syndrome, familial, Behcet-like' http://purl.obolibrary.org/obo/MONDO_0800046 thyroid hormone metabolism, abnormal 1 'thyroid hormone metabolism, abnormal 1' SubClassOf 'peripheral hypothyroidism' 'thyroid hormone metabolism, abnormal 1' SubClassOf 'thyroid hormone metabolism, abnormal' 'thyroid hormone metabolism, abnormal 1' SubClassOf 'peripheral hypothyroidism' 'thyroid hormone metabolism, abnormal 1' SubClassOf 'thyroid hormone metabolism, abnormal' http://purl.obolibrary.org/obo/MONDO_0800043 Stüve-Wiedemann syndrome 1 'Stüve-Wiedemann syndrome 1' SubClassOf 'bent bone dysplasia' 'Stüve-Wiedemann syndrome 1' SubClassOf 'Stuve-Wiedemann syndrome' 'Stüve-Wiedemann syndrome 1' SubClassOf 'Schwartz-Jampel syndrome' 'Stüve-Wiedemann syndrome 1' SubClassOf 'bent bone dysplasia' 'Stüve-Wiedemann syndrome 1' SubClassOf 'Stuve-Wiedemann syndrome' 'Stüve-Wiedemann syndrome 1' SubClassOf 'Schwartz-Jampel syndrome' http://purl.obolibrary.org/obo/MONDO_0800044 congenital disorder of deglycosylation 1 'congenital disorder of deglycosylation 1' SubClassOf 'congenital disorder of deglycosylation' 'congenital disorder of deglycosylation 1' SubClassOf 'inborn carbohydrate metabolic disorder' 'congenital disorder of deglycosylation 1' SubClassOf 'congenital disorder of deglycosylation' 'congenital disorder of deglycosylation 1' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0800080 severe spondylodysplastic dysplasia 'severe spondylodysplastic dysplasia' SubClassOf 'spondylodysplastic dysplasia' 'severe spondylodysplastic dysplasia' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0800066 polydactyly-syndactyly-triphalangism 'polydactyly-syndactyly-triphalangism' SubClassOf 'syndactyly' 'polydactyly-syndactyly-triphalangism' SubClassOf 'skeletal dysplasia' 'polydactyly-syndactyly-triphalangism' SubClassOf 'polydactyly' 'polydactyly-syndactyly-triphalangism' SubClassOf 'syndactyly' 'polydactyly-syndactyly-triphalangism' SubClassOf 'skeletal dysplasia' 'polydactyly-syndactyly-triphalangism' SubClassOf 'polydactyly' http://purl.obolibrary.org/obo/MONDO_0800042 restrictive dermopathy 1 'restrictive dermopathy 1' SubClassOf 'restrictive dermopathy' 'restrictive dermopathy 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'restrictive dermopathy 1' SubClassOf 'laminopathy' 'restrictive dermopathy 1' SubClassOf 'restrictive dermopathy' 'restrictive dermopathy 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'restrictive dermopathy 1' SubClassOf 'laminopathy' http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma 'carcinoma' SubClassOf 'cancer' 'carcinoma' SubClassOf 'disease has location' some 'epithelial cell' 'carcinoma' SubClassOf 'epithelial neoplasm' 'carcinoma' SubClassOf 'disease has location' some 'epithelial cell' 'carcinoma' SubClassOf 'cancer' 'carcinoma' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy 'cardiomyopathy' SubClassOf 'heart disease' 'cardiomyopathy' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0800031 central hypoventilation syndrome, congenital 'central hypoventilation syndrome, congenital' SubClassOf 'genetic disorder' 'central hypoventilation syndrome, congenital' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0000304 breast adenocarcinoma 'breast adenocarcinoma' SubClassOf 'adenocarcinoma' 'breast adenocarcinoma' SubClassOf 'disease has location' some 'mammary gland' 'breast adenocarcinoma' SubClassOf 'breast carcinoma' 'breast adenocarcinoma' SubClassOf 'adenocarcinoma' 'breast adenocarcinoma' SubClassOf 'disease has location' some 'mammary gland' 'breast adenocarcinoma' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma 'breast carcinoma' SubClassOf 'carcinoma' 'breast carcinoma' SubClassOf 'breast cancer' 'breast carcinoma' SubClassOf 'carcinoma' 'breast carcinoma' SubClassOf 'breast cancer' http://www.ebi.ac.uk/efo/EFO_0000306 breast tumor luminal 'breast tumor luminal' SubClassOf 'Breast Carcinoma by Gene Expression Profile' 'breast tumor luminal' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://www.ebi.ac.uk/efo/EFO_0000308 bronchoalveolar adenocarcinoma 'bronchoalveolar adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'bronchoalveolar adenocarcinoma' SubClassOf 'lung adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf 'leukoencephalopathy, hereditary diffuse, with spheroids' 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf 'leukodystrophy' 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf 'leukoencephalopathy, hereditary diffuse, with spheroids' 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0800028 dyskinesia with orofacial involvement, autosomal dominant 'dyskinesia with orofacial involvement, autosomal dominant' SubClassOf 'movement disorder' 'dyskinesia with orofacial involvement, autosomal dominant' SubClassOf 'dyskinesia with orofacial involvement' 'dyskinesia with orofacial involvement, autosomal dominant' SubClassOf 'movement disorder' 'dyskinesia with orofacial involvement, autosomal dominant' SubClassOf 'dyskinesia with orofacial involvement' http://www.ebi.ac.uk/efo/EFO_0000309 Burkitts lymphoma 'Burkitts lymphoma' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'Burkitts lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' 'Burkitts lymphoma' SubClassOf 'neoplasm of mature B-cells' 'Burkitts lymphoma' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'Burkitts lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' 'Burkitts lymphoma' SubClassOf 'neoplasm of mature B-cells' http://purl.obolibrary.org/obo/MONDO_0800025 Teebi hypertelorism syndrome 1 'Teebi hypertelorism syndrome 1' SubClassOf 'Teebi hypertelorism syndrome' 'Teebi hypertelorism syndrome 1' SubClassOf 'Teebi hypertelorism syndrome' http://purl.obolibrary.org/obo/MONDO_0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'central hypoventilation syndrome, congenital' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'neurocristopathy' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'syndromic disease' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'autonomic nervous system disease' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'central hypoventilation syndrome, congenital' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'neurocristopathy' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'syndromic disease' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'autonomic nervous system disease' http://www.ebi.ac.uk/efo/EFO_0000330 childhood acute myeloid leukemia 'childhood acute myeloid leukemia' SubClassOf 'childhood leukemia' 'childhood acute myeloid leukemia' SubClassOf 'childhood leukemia' http://www.ebi.ac.uk/efo/EFO_1000302 Infiltrating Bladder Lymphoepithelioma-Like Carcinoma 'Infiltrating Bladder Lymphoepithelioma-Like Carcinoma' SubClassOf 'nasopharyngeal type undifferentiated carcinoma' 'Infiltrating Bladder Lymphoepithelioma-Like Carcinoma' SubClassOf 'infiltrating bladder urothelial carcinoma' 'Infiltrating Bladder Lymphoepithelioma-Like Carcinoma' SubClassOf 'nasopharyngeal type undifferentiated carcinoma' 'Infiltrating Bladder Lymphoepithelioma-Like Carcinoma' SubClassOf 'infiltrating bladder urothelial carcinoma' http://www.ebi.ac.uk/efo/EFO_0000331 chondroblastoma 'chondroblastoma' SubClassOf 'bone benign neoplasm' 'chondroblastoma' SubClassOf 'benign chondrogenic neoplasm' 'chondroblastoma' SubClassOf 'bone benign neoplasm' 'chondroblastoma' SubClassOf 'benign chondrogenic neoplasm' http://www.ebi.ac.uk/efo/EFO_0000332 chondromyxoid fibroma 'chondromyxoid fibroma' SubClassOf 'benign chondrogenic neoplasm' 'chondromyxoid fibroma' SubClassOf 'bone benign neoplasm' 'chondromyxoid fibroma' SubClassOf 'benign chondrogenic neoplasm' 'chondromyxoid fibroma' SubClassOf 'bone benign neoplasm' http://www.ebi.ac.uk/efo/EFO_1000300 Ileal Neuroendocrine Tumor G1 'Ileal Neuroendocrine Tumor G1' SubClassOf 'small intestinal neuroendocrine tumor G1' 'Ileal Neuroendocrine Tumor G1' SubClassOf 'ileal neuroendocrine tumor, well differentiated, low or intermediate grade' 'Ileal Neuroendocrine Tumor G1' SubClassOf 'small intestinal neuroendocrine tumor G1' 'Ileal Neuroendocrine Tumor G1' SubClassOf 'ileal neuroendocrine tumor, well differentiated, low or intermediate grade' http://www.ebi.ac.uk/efo/EFO_0000333 chondrosarcoma 'chondrosarcoma' SubClassOf 'connective tissue neoplasm' 'chondrosarcoma' SubClassOf 'sarcoma' 'chondrosarcoma' SubClassOf 'connective tissue neoplasm' 'chondrosarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0000335 chromophobe renal cell carcinoma 'chromophobe renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' 'chromophobe renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000337 chronic gastritis 'chronic gastritis' SubClassOf 'gastritis' 'chronic gastritis' SubClassOf 'gastritis' http://www.ebi.ac.uk/efo/EFO_1000307 Invasive Breast Carcinoma 'Invasive Breast Carcinoma' SubClassOf 'breast carcinoma' 'Invasive Breast Carcinoma' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0000339 chronic myelogenous leukemia 'chronic myelogenous leukemia' SubClassOf 'myeloid leukemia' 'chronic myelogenous leukemia' SubClassOf 'myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000308 Jejunal Neuroendocrine Tumor G1 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'small intestinal neuroendocrine tumor G1' 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'small intestinal neuroendocrine tumor G1' http://www.ebi.ac.uk/efo/EFO_1000305 Intimal Sarcoma 'Intimal Sarcoma' SubClassOf 'soft tissue sarcoma' 'Intimal Sarcoma' SubClassOf 'spindle cell sarcoma' 'Intimal Sarcoma' SubClassOf 'soft tissue sarcoma' 'Intimal Sarcoma' SubClassOf 'spindle cell sarcoma' http://www.ebi.ac.uk/efo/EFO_1000303 Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf 'sarcomatoid transitional cell carcinoma' 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf 'infiltrating bladder urothelial carcinoma' 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf 'sarcomatoid transitional cell carcinoma' 'Infiltrating Bladder Urothelial Carcinoma Sarcomatoid Variant' SubClassOf 'infiltrating bladder urothelial carcinoma' http://www.ebi.ac.uk/efo/EFO_1000304 Intestinal Type Adenocarcinoma 'Intestinal Type Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Intestinal Type Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000310 Juvenile Polyp 'Juvenile Polyp' SubClassOf 'Gastrointestinal Hamartoma' 'Juvenile Polyp' SubClassOf 'Gastrointestinal Hamartoma' http://www.ebi.ac.uk/efo/EFO_1000311 Juvenile Xanthogranuloma 'Juvenile Xanthogranuloma' SubClassOf 'non-Langerhans cell histiocytosis' 'Juvenile Xanthogranuloma' SubClassOf 'non-Langerhans cell histiocytosis' http://www.ebi.ac.uk/efo/EFO_0000326 central nervous system cancer 'central nervous system cancer' SubClassOf 'nervous system cancer' 'central nervous system cancer' SubClassOf 'nervous system cancer' http://www.ebi.ac.uk/efo/EFO_1000318 Langerhans Cell Histiocytosis 'Langerhans Cell Histiocytosis' SubClassOf 'dendritic cell tumor' 'Langerhans Cell Histiocytosis' SubClassOf 'disease has location' some 'Langerhans cell' 'Langerhans Cell Histiocytosis' SubClassOf 'dendritic cell tumor' 'Langerhans Cell Histiocytosis' SubClassOf 'disease has location' some 'Langerhans cell' http://www.ebi.ac.uk/efo/EFO_1000319 Laryngeal Adenoid Cystic Carcinoma 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'laryngeal carcinoma' 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'laryngeal carcinoma' 'Laryngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000316 Krukenberg Tumor 'Krukenberg Tumor' SubClassOf 'signet ring cell carcinoma' 'Krukenberg Tumor' SubClassOf 'signet ring cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000317 Lacrimal Gland Adenoid Cystic Carcinoma 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'lacrimal gland adenocarcinoma' 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'lacrimal gland adenocarcinoma' 'Lacrimal Gland Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000314 Kidney Medullary Carcinoma 'Kidney Medullary Carcinoma' SubClassOf 'renal cell carcinoma' 'Kidney Medullary Carcinoma' SubClassOf 'renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0021400 polyp of colon 'polyp of colon' SubClassOf 'polyp of large intestine' 'polyp of colon' SubClassOf 'polyp of large intestine' http://www.ebi.ac.uk/efo/EFO_0000350 clear cell sarcoma of the kidney 'clear cell sarcoma of the kidney' SubClassOf 'kidney sarcoma' 'clear cell sarcoma of the kidney' SubClassOf 'clear cell sarcoma' 'clear cell sarcoma of the kidney' SubClassOf 'kidney sarcoma' 'clear cell sarcoma of the kidney' SubClassOf 'clear cell sarcoma' http://www.ebi.ac.uk/efo/EFO_1000323 Liver Diffuse Large B-Cell Lymphoma 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'liver lymphoma' 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'hepatocellular carcinoma' 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'liver lymphoma' 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'hepatocellular carcinoma' http://www.ebi.ac.uk/efo/EFO_1000321 Leydig Cell Tumor 'Leydig Cell Tumor' SubClassOf 'sex cord-stromal tumor' 'Leydig Cell Tumor' SubClassOf 'sex cord-stromal tumor' http://www.ebi.ac.uk/efo/EFO_1000320 Laryngeal Small Cell Carcinoma 'Laryngeal Small Cell Carcinoma' SubClassOf 'head and neck carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf 'laryngeal neuroendocrine neoplasm' 'Laryngeal Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf 'laryngeal carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf 'head and neck carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf 'laryngeal neuroendocrine neoplasm' 'Laryngeal Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Laryngeal Small Cell Carcinoma' SubClassOf 'laryngeal carcinoma' http://www.ebi.ac.uk/efo/EFO_1000329 Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes 'Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes' SubClassOf 'Low Grade Fibromyxoid Sarcoma' 'Low Grade Fibromyxoid Sarcoma with Giant Collagen Rosettes' SubClassOf 'Low Grade Fibromyxoid Sarcoma' http://www.ebi.ac.uk/efo/EFO_1000327 Low Grade Central Osteosarcoma 'Low Grade Central Osteosarcoma' SubClassOf 'osteosarcoma' 'Low Grade Central Osteosarcoma' SubClassOf 'osteosarcoma' http://www.ebi.ac.uk/efo/EFO_1000328 Low Grade Fibromyxoid Sarcoma 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'fibrosarcoma' 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'fibrosarcoma' http://www.ebi.ac.uk/efo/EFO_1000326 Lobular Breast Carcinoma In Situ 'Lobular Breast Carcinoma In Situ' SubClassOf 'breast adenocarcinoma' 'Lobular Breast Carcinoma In Situ' SubClassOf 'adenocarcinoma in situ' 'Lobular Breast Carcinoma In Situ' SubClassOf 'lobular neoplasia' 'Lobular Breast Carcinoma In Situ' SubClassOf 'breast adenocarcinoma' 'Lobular Breast Carcinoma In Situ' SubClassOf 'adenocarcinoma in situ' 'Lobular Breast Carcinoma In Situ' SubClassOf 'lobular neoplasia' http://www.ebi.ac.uk/efo/EFO_1000334 Lung Lymphangioleiomyomatosis 'Lung Lymphangioleiomyomatosis' SubClassOf 'lymphangioleiomyomatosis' 'Lung Lymphangioleiomyomatosis' SubClassOf 'lymphangioleiomyomatosis' http://www.ebi.ac.uk/efo/EFO_1000335 Lung Papilloma 'Lung Papilloma' SubClassOf 'papilloma' 'Lung Papilloma' SubClassOf 'papilloma' http://www.ebi.ac.uk/efo/EFO_0000342 chronic pancreatitis 'chronic pancreatitis' SubClassOf 'pancreatitis' 'chronic pancreatitis' SubClassOf 'pancreatitis' http://www.ebi.ac.uk/efo/EFO_1000332 Lung Giant Cell Carcinoma 'Lung Giant Cell Carcinoma' SubClassOf 'Lung Sarcomatoid Carcinoma' 'Lung Giant Cell Carcinoma' SubClassOf 'Lung Sarcomatoid Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000333 Lung Inflammatory Myofibroblastic Tumor 'Lung Inflammatory Myofibroblastic Tumor' SubClassOf 'inflammatory myofibroblastic tumor' 'Lung Inflammatory Myofibroblastic Tumor' SubClassOf 'lung carcinoma' 'Lung Inflammatory Myofibroblastic Tumor' SubClassOf 'inflammatory myofibroblastic tumor' 'Lung Inflammatory Myofibroblastic Tumor' SubClassOf 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_1000330 Low Grade Vulvar Intraepithelial Neoplasia 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'vulvar intraepithelial neoplasia' 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'vulvar intraepithelial neoplasia' http://www.ebi.ac.uk/efo/EFO_0000348 clear cell adenocarcinoma 'clear cell adenocarcinoma' SubClassOf 'adenocarcinoma' 'clear cell adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000349 clear cell renal carcinoma 'clear cell renal carcinoma' SubClassOf 'renal cell adenocarcinoma' 'clear cell renal carcinoma' SubClassOf 'clear cell adenocarcinoma' 'clear cell renal carcinoma' SubClassOf 'renal cell adenocarcinoma' 'clear cell renal carcinoma' SubClassOf 'clear cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000338 Lung Signet Ring Cell Carcinoma 'Lung Signet Ring Cell Carcinoma' SubClassOf 'lung adenocarcinoma' 'Lung Signet Ring Cell Carcinoma' SubClassOf 'signet ring cell carcinoma' 'Lung Signet Ring Cell Carcinoma' SubClassOf 'lung adenocarcinoma' 'Lung Signet Ring Cell Carcinoma' SubClassOf 'signet ring cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000339 Lymphangiosarcoma 'Lymphangiosarcoma' SubClassOf 'sarcoma' 'Lymphangiosarcoma' SubClassOf 'disease has location' some 'endothelial cell' 'Lymphangiosarcoma' SubClassOf 'sarcoma' 'Lymphangiosarcoma' SubClassOf 'disease has location' some 'endothelial cell' http://www.ebi.ac.uk/efo/EFO_1000336 Lung Sarcomatoid Carcinoma 'Lung Sarcomatoid Carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'Lung Sarcomatoid Carcinoma' SubClassOf 'Sarcomatoid Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000337 Lung Sclerosing Hemangioma 'Lung Sclerosing Hemangioma' SubClassOf 'hemangioma of lung' 'Lung Sclerosing Hemangioma' SubClassOf 'hemangioma of lung' http://www.ebi.ac.uk/efo/EFO_0000255 angioimmunoblastic T-cell lymphoma 'angioimmunoblastic T-cell lymphoma' SubClassOf 'mature T-cell and NK-cell non-Hodgkin lymphoma' 'angioimmunoblastic T-cell lymphoma' SubClassOf 'mature T-cell and NK-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0021424 hemangiopericytoma of skin 'hemangiopericytoma of skin' SubClassOf 'hemangiopericytoma' 'hemangiopericytoma of skin' SubClassOf 'hemangiopericytoma' http://purl.obolibrary.org/obo/MONDO_0021427 squamous cell carcinoma of lip 'squamous cell carcinoma of lip' SubClassOf 'carcinoma of lip' 'squamous cell carcinoma of lip' SubClassOf 'oral squamous cell carcinoma' 'squamous cell carcinoma of lip' SubClassOf 'carcinoma of lip' 'squamous cell carcinoma of lip' SubClassOf 'oral squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0021429 squamous cell carcinoma of floor of mouth 'squamous cell carcinoma of floor of mouth' SubClassOf 'oral squamous cell carcinoma' 'squamous cell carcinoma of floor of mouth' SubClassOf 'carcinoma of floor of mouth' 'squamous cell carcinoma of floor of mouth' SubClassOf 'oral squamous cell carcinoma' 'squamous cell carcinoma of floor of mouth' SubClassOf 'carcinoma of floor of mouth' http://purl.obolibrary.org/obo/MONDO_0021412 polyp of maxillary sinus 'polyp of maxillary sinus' SubClassOf 'polyp' 'polyp of maxillary sinus' SubClassOf 'polyp' http://www.ebi.ac.uk/efo/EFO_0000248 alveolar rhabdomyosarcoma 'alveolar rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'alveolar rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0021416 polyp of gallbladder 'polyp of gallbladder' SubClassOf 'polyp' 'polyp of gallbladder' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0021418 polyp of ethmoidal sinus 'polyp of ethmoidal sinus' SubClassOf 'polyp' 'polyp of ethmoidal sinus' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin 'benign neoplasm of skin' SubClassOf 'skin neoplasm' 'benign neoplasm of skin' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0021441 benign neoplasm of exocrine pancreas 'benign neoplasm of exocrine pancreas' SubClassOf 'benign neoplasm of pancreas' 'benign neoplasm of exocrine pancreas' SubClassOf 'pancreatic exocrine neoplasm' 'benign neoplasm of exocrine pancreas' SubClassOf 'benign neoplasm of pancreas' 'benign neoplasm of exocrine pancreas' SubClassOf 'pancreatic exocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021444 benign neoplasm of large intestine 'benign neoplasm of large intestine' SubClassOf 'intestinal benign neoplasm' 'benign neoplasm of large intestine' SubClassOf 'intestinal benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0000272 astrocytoma 'astrocytoma' SubClassOf 'astrocytic tumor' 'astrocytoma' SubClassOf 'astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0021445 benign neoplasm of oral cavity 'benign neoplasm of oral cavity' SubClassOf 'mouth neoplasm' 'benign neoplasm of oral cavity' SubClassOf 'mouth neoplasm' http://www.ebi.ac.uk/efo/EFO_0000274 atopic eczema 'atopic eczema' SubClassOf 'dermatitis' 'atopic eczema' SubClassOf 'allergic disease' 'atopic eczema' SubClassOf 'dermatitis' 'atopic eczema' SubClassOf 'allergic disease' http://www.ebi.ac.uk/efo/EFO_0000275 atrial fibrillation 'atrial fibrillation' SubClassOf 'cardiac rhythm disease' 'atrial fibrillation' SubClassOf 'disease has location' some 'cardiac atrium' 'atrial fibrillation' SubClassOf 'cardiac rhythm disease' 'atrial fibrillation' SubClassOf 'disease has location' some 'cardiac atrium' http://www.ebi.ac.uk/efo/EFO_0000278 pancreatitis 'pancreatitis' SubClassOf 'pancreas disease' 'pancreatitis' SubClassOf 'inflammatory disease' 'pancreatitis' SubClassOf 'pancreas disease' 'pancreatitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0000279 azoospermia 'azoospermia' SubClassOf 'male infertility' 'azoospermia' SubClassOf 'disease has location' some 'sperm' 'azoospermia' SubClassOf 'male infertility' 'azoospermia' SubClassOf 'disease has location' some 'sperm' http://purl.obolibrary.org/obo/MONDO_0021447 benign neoplasm of testis 'benign neoplasm of testis' SubClassOf 'neoplasm of testis' 'benign neoplasm of testis' SubClassOf 'neoplasm of testis' http://purl.obolibrary.org/obo/MONDO_0021449 benign neoplasm of stomach 'benign neoplasm of stomach' SubClassOf 'benign digestive system neoplasm' 'benign neoplasm of stomach' SubClassOf 'stomach neoplasm' 'benign neoplasm of stomach' SubClassOf 'benign digestive system neoplasm' 'benign neoplasm of stomach' SubClassOf 'stomach neoplasm' http://purl.obolibrary.org/obo/MONDO_0021437 lipoma of stomach 'lipoma of stomach' SubClassOf 'lipoma' 'lipoma of stomach' SubClassOf 'benign neoplasm of stomach' 'lipoma of stomach' SubClassOf 'lipoma' 'lipoma of stomach' SubClassOf 'benign neoplasm of stomach' http://purl.obolibrary.org/obo/MONDO_0021439 benign neoplasm of pituitary gland 'benign neoplasm of pituitary gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of pituitary gland' SubClassOf 'Benign Brain Neoplasm' 'benign neoplasm of pituitary gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of pituitary gland' SubClassOf 'Benign Brain Neoplasm' http://purl.obolibrary.org/obo/MONDO_0021460 benign neoplasm of salivary gland 'benign neoplasm of salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' 'benign neoplasm of salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' http://purl.obolibrary.org/obo/MONDO_0021461 benign neoplasm of hypopharynx 'benign neoplasm of hypopharynx' SubClassOf 'benign neoplasm of pharynx' 'benign neoplasm of hypopharynx' SubClassOf 'neoplasm of hypopharynx' 'benign neoplasm of hypopharynx' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of hypopharynx' SubClassOf 'neoplasm of hypopharynx' 'benign neoplasm of hypopharynx' SubClassOf 'benign neoplasm of pharynx' 'benign neoplasm of hypopharynx' SubClassOf 'respiratory system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021462 benign neoplasm of rectum 'benign neoplasm of rectum' SubClassOf 'benign neoplasm of large intestine' 'benign neoplasm of rectum' SubClassOf 'rectal neoplasm' 'benign neoplasm of rectum' SubClassOf 'benign neoplasm of large intestine' 'benign neoplasm of rectum' SubClassOf 'rectal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021463 benign neoplasm of parathyroid gland 'benign neoplasm of parathyroid gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of parathyroid gland' SubClassOf 'tumor of parathyroid gland' 'benign neoplasm of parathyroid gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of parathyroid gland' SubClassOf 'tumor of parathyroid gland' http://purl.obolibrary.org/obo/MONDO_0021464 benign neoplasm of cecum 'benign neoplasm of cecum' SubClassOf 'cecal neoplasm' 'benign neoplasm of cecum' SubClassOf 'benign colon neoplasm' 'benign neoplasm of cecum' SubClassOf 'cecal neoplasm' 'benign neoplasm of cecum' SubClassOf 'benign colon neoplasm' http://purl.obolibrary.org/obo/MONDO_0021465 benign neoplasm of appendix 'benign neoplasm of appendix' SubClassOf 'appendiceal neoplasm' 'benign neoplasm of appendix' SubClassOf 'appendiceal neoplasm' http://www.ebi.ac.uk/efo/EFO_0000294 bladder tumor 'bladder tumor' SubClassOf 'bladder disease' 'bladder tumor' SubClassOf 'urinary system neoplasm' 'bladder tumor' SubClassOf 'bladder disease' 'bladder tumor' SubClassOf 'urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021467 benign neoplasm of renal pelvis 'benign neoplasm of renal pelvis' SubClassOf 'renal pelvis neoplasm' 'benign neoplasm of renal pelvis' SubClassOf 'kidney benign neoplasm' 'benign neoplasm of renal pelvis' SubClassOf 'renal pelvis neoplasm' 'benign neoplasm of renal pelvis' SubClassOf 'kidney benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021468 benign neoplasm of adrenal medulla 'benign neoplasm of adrenal medulla' SubClassOf 'benign neoplasm of adrenal gland' 'benign neoplasm of adrenal medulla' SubClassOf 'adrenal medulla neoplasm' 'benign neoplasm of adrenal medulla' SubClassOf 'benign neoplasm of adrenal gland' 'benign neoplasm of adrenal medulla' SubClassOf 'adrenal medulla neoplasm' http://purl.obolibrary.org/obo/MONDO_0021469 benign neoplasm of anus 'benign neoplasm of anus' SubClassOf 'anal neoplasm' 'benign neoplasm of anus' SubClassOf 'anal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021450 benign neoplasm of heart 'benign neoplasm of heart' SubClassOf 'thoracic benign neoplasm' 'benign neoplasm of heart' SubClassOf 'Heart neoplasm' 'benign neoplasm of heart' SubClassOf 'thoracic benign neoplasm' 'benign neoplasm of heart' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0021452 benign neoplasm of cornea 'benign neoplasm of cornea' SubClassOf 'cornea neoplasm' 'benign neoplasm of cornea' SubClassOf 'benign neoplasm of eye' 'benign neoplasm of cornea' SubClassOf 'cornea neoplasm' 'benign neoplasm of cornea' SubClassOf 'benign neoplasm of eye' http://www.ebi.ac.uk/efo/EFO_0000280 Barrett's esophagus 'Barrett's esophagus' SubClassOf 'esophageal disease' 'Barrett's esophagus' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0021453 benign neoplasm of retina 'benign neoplasm of retina' SubClassOf 'Retinal Neoplasm' 'benign neoplasm of retina' SubClassOf 'benign neoplasm of eye' 'benign neoplasm of retina' SubClassOf 'Retinal Neoplasm' 'benign neoplasm of retina' SubClassOf 'benign neoplasm of eye' http://www.ebi.ac.uk/efo/EFO_0000281 basal-like breast carcinoma 'basal-like breast carcinoma' SubClassOf 'invasive breast ductal carcinoma' 'basal-like breast carcinoma' SubClassOf 'invasive breast ductal carcinoma' http://purl.obolibrary.org/obo/MONDO_0021454 benign neoplasm of eye 'benign neoplasm of eye' SubClassOf 'eye neoplasm' 'benign neoplasm of eye' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/MONDO_0021455 benign neoplasm of neck 'benign neoplasm of neck' SubClassOf 'neoplasm of neck' 'benign neoplasm of neck' SubClassOf 'neoplasm of neck' http://www.ebi.ac.uk/efo/EFO_0000284 benign prostatic hyperplasia 'benign prostatic hyperplasia' SubClassOf 'prostate disease' 'benign prostatic hyperplasia' SubClassOf 'hyperplasia' 'benign prostatic hyperplasia' SubClassOf 'prostate disease' 'benign prostatic hyperplasia' SubClassOf 'hyperplasia' http://purl.obolibrary.org/obo/MONDO_0021457 benign neoplasm of pleura 'benign neoplasm of pleura' SubClassOf 'pleural neoplasm' 'benign neoplasm of pleura' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of pleura' SubClassOf 'pleural neoplasm' 'benign neoplasm of pleura' SubClassOf 'respiratory system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021458 benign neoplasm of penis 'benign neoplasm of penis' SubClassOf 'penile neoplasm' 'benign neoplasm of penis' SubClassOf 'penile neoplasm' http://purl.obolibrary.org/obo/MONDO_0021459 benign neoplasm of esophagus 'benign neoplasm of esophagus' SubClassOf 'neoplasm of esophagus' 'benign neoplasm of esophagus' SubClassOf 'benign digestive system neoplasm' 'benign neoplasm of esophagus' SubClassOf 'neoplasm of esophagus' 'benign neoplasm of esophagus' SubClassOf 'benign digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021482 benign neoplasm of middle ear 'benign neoplasm of middle ear' SubClassOf 'benign neoplasm of ear' 'benign neoplasm of middle ear' SubClassOf 'neoplasm of middle ear' 'benign neoplasm of middle ear' SubClassOf 'benign neoplasm of ear' 'benign neoplasm of middle ear' SubClassOf 'neoplasm of middle ear' http://purl.obolibrary.org/obo/MONDO_0021484 benign neoplasm of maxillary sinus 'benign neoplasm of maxillary sinus' SubClassOf 'maxillary sinus neoplasm' 'benign neoplasm of maxillary sinus' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of maxillary sinus' SubClassOf 'maxillary sinus neoplasm' 'benign neoplasm of maxillary sinus' SubClassOf 'respiratory system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021485 benign neoplasm of iris 'benign neoplasm of iris' SubClassOf 'iris neoplasm' 'benign neoplasm of iris' SubClassOf 'benign neoplasm of eye' 'benign neoplasm of iris' SubClassOf 'iris neoplasm' 'benign neoplasm of iris' SubClassOf 'benign neoplasm of eye' http://purl.obolibrary.org/obo/MONDO_0021486 benign neoplasm of ciliary body 'benign neoplasm of ciliary body' SubClassOf 'ciliary body neoplasm' 'benign neoplasm of ciliary body' SubClassOf 'ciliary body neoplasm' http://purl.obolibrary.org/obo/MONDO_0021487 benign neoplasm of choroid 'benign neoplasm of choroid' SubClassOf 'benign neoplasm of eye' 'benign neoplasm of choroid' SubClassOf 'choroid neoplasm' 'benign neoplasm of choroid' SubClassOf 'benign neoplasm of eye' 'benign neoplasm of choroid' SubClassOf 'choroid neoplasm' http://purl.obolibrary.org/obo/MONDO_0021488 benign neoplasm of lacrimal gland 'benign neoplasm of lacrimal gland' SubClassOf 'lacrimal gland neoplasm' 'benign neoplasm of lacrimal gland' SubClassOf 'benign neoplasm of eye' 'benign neoplasm of lacrimal gland' SubClassOf 'lacrimal gland neoplasm' 'benign neoplasm of lacrimal gland' SubClassOf 'benign neoplasm of eye' http://purl.obolibrary.org/obo/MONDO_0021489 benign neoplasm of sweat gland 'benign neoplasm of sweat gland' SubClassOf 'sweat gland neoplasm' 'benign neoplasm of sweat gland' SubClassOf 'benign neoplasm of skin' 'benign neoplasm of sweat gland' SubClassOf 'sweat gland neoplasm' 'benign neoplasm of sweat gland' SubClassOf 'benign neoplasm of skin' http://purl.obolibrary.org/obo/MONDO_0021481 benign neoplasm of submandibular gland 'benign neoplasm of submandibular gland' SubClassOf 'benign neoplasm of major salivary gland' 'benign neoplasm of submandibular gland' SubClassOf 'submandibular gland neoplasm' 'benign neoplasm of submandibular gland' SubClassOf 'benign neoplasm of major salivary gland' 'benign neoplasm of submandibular gland' SubClassOf 'submandibular gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0021471 benign neoplasm of endometrium 'benign neoplasm of endometrium' SubClassOf 'endometrium neoplasm' 'benign neoplasm of endometrium' SubClassOf 'uterine benign neoplasm' 'benign neoplasm of endometrium' SubClassOf 'endometrium neoplasm' 'benign neoplasm of endometrium' SubClassOf 'uterine benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021472 benign neoplasm of scrotum 'benign neoplasm of scrotum' SubClassOf 'scrotum neoplasm' 'benign neoplasm of scrotum' SubClassOf 'scrotum neoplasm' http://purl.obolibrary.org/obo/MONDO_0021474 benign neoplasm of ear 'benign neoplasm of ear' SubClassOf 'ear neoplasm' 'benign neoplasm of ear' SubClassOf 'ear neoplasm' http://purl.obolibrary.org/obo/MONDO_0021475 benign neoplasm of nasal cavity 'benign neoplasm of nasal cavity' SubClassOf 'nasal cavity neoplasm' 'benign neoplasm of nasal cavity' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of nasal cavity' SubClassOf 'nasal cavity neoplasm' 'benign neoplasm of nasal cavity' SubClassOf 'respiratory system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021476 benign neoplasm of tongue 'benign neoplasm of tongue' SubClassOf 'tongue neoplasm' 'benign neoplasm of tongue' SubClassOf 'tongue neoplasm' http://purl.obolibrary.org/obo/MONDO_0021478 benign neoplasm of nasopharynx 'benign neoplasm of nasopharynx' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of nasopharynx' SubClassOf 'benign neoplasm of pharynx' 'benign neoplasm of nasopharynx' SubClassOf 'nasopharyngeal neoplasm' 'benign neoplasm of nasopharynx' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of nasopharynx' SubClassOf 'benign neoplasm of pharynx' 'benign neoplasm of nasopharynx' SubClassOf 'nasopharyngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021470 benign neoplasm of pancreas 'benign neoplasm of pancreas' SubClassOf 'pancreatic neoplasm' 'benign neoplasm of pancreas' SubClassOf 'pancreatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0021479 benign neoplasm of oropharynx 'benign neoplasm of oropharynx' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of oropharynx' SubClassOf 'neoplasm of oropharynx' 'benign neoplasm of oropharynx' SubClassOf 'benign neoplasm of pharynx' 'benign neoplasm of oropharynx' SubClassOf 'respiratory system benign neoplasm' 'benign neoplasm of oropharynx' SubClassOf 'neoplasm of oropharynx' 'benign neoplasm of oropharynx' SubClassOf 'benign neoplasm of pharynx' http://purl.obolibrary.org/obo/MONDO_0021493 benign neoplasm of minor salivary gland 'benign neoplasm of minor salivary gland' SubClassOf 'benign neoplasm of salivary gland' 'benign neoplasm of minor salivary gland' SubClassOf 'neoplasm of minor salivary gland' 'benign neoplasm of minor salivary gland' SubClassOf 'benign neoplasm of salivary gland' 'benign neoplasm of minor salivary gland' SubClassOf 'neoplasm of minor salivary gland' http://purl.obolibrary.org/obo/MONDO_0021494 benign neoplasm of parotid gland 'benign neoplasm of parotid gland' SubClassOf 'parotid neoplasm' 'benign neoplasm of parotid gland' SubClassOf 'benign neoplasm of major salivary gland' 'benign neoplasm of parotid gland' SubClassOf 'parotid neoplasm' 'benign neoplasm of parotid gland' SubClassOf 'benign neoplasm of major salivary gland' http://purl.obolibrary.org/obo/MONDO_0021495 benign neoplasm of sublingual gland 'benign neoplasm of sublingual gland' SubClassOf 'benign neoplasm of major salivary gland' 'benign neoplasm of sublingual gland' SubClassOf 'Sublingual Gland Neoplasms' 'benign neoplasm of sublingual gland' SubClassOf 'benign neoplasm of major salivary gland' 'benign neoplasm of sublingual gland' SubClassOf 'Sublingual Gland Neoplasms' http://purl.obolibrary.org/obo/MONDO_0021496 benign neoplasm of lip 'benign neoplasm of lip' SubClassOf 'lip neoplasm' 'benign neoplasm of lip' SubClassOf 'lip neoplasm' http://purl.obolibrary.org/obo/MONDO_0021497 benign neoplasm of cerebrum 'benign neoplasm of cerebrum' SubClassOf 'neoplasm of cerebral hemisphere' 'benign neoplasm of cerebrum' SubClassOf 'Benign Brain Neoplasm' 'benign neoplasm of cerebrum' SubClassOf 'neoplasm of cerebral hemisphere' 'benign neoplasm of cerebrum' SubClassOf 'Benign Brain Neoplasm' http://purl.obolibrary.org/obo/MONDO_0021499 benign neoplasm of cerebellum 'benign neoplasm of cerebellum' SubClassOf 'cerebellar neoplasm' 'benign neoplasm of cerebellum' SubClassOf 'Benign Brain Neoplasm' 'benign neoplasm of cerebellum' SubClassOf 'cerebellar neoplasm' 'benign neoplasm of cerebellum' SubClassOf 'Benign Brain Neoplasm' http://purl.obolibrary.org/obo/MONDO_0021490 benign neoplasm of sebaceous gland 'benign neoplasm of sebaceous gland' SubClassOf 'benign neoplasm of skin' 'benign neoplasm of sebaceous gland' SubClassOf 'sebaceous gland neoplasm' 'benign neoplasm of sebaceous gland' SubClassOf 'benign neoplasm of skin' 'benign neoplasm of sebaceous gland' SubClassOf 'sebaceous gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0021491 benign neoplasm of gum 'benign neoplasm of gum' SubClassOf 'gingival neoplasm' 'benign neoplasm of gum' SubClassOf 'gingival neoplasm' http://purl.obolibrary.org/obo/MONDO_0021492 benign neoplasm of major salivary gland 'benign neoplasm of major salivary gland' SubClassOf 'neoplasm of major salivary gland' 'benign neoplasm of major salivary gland' SubClassOf 'benign neoplasm of salivary gland' 'benign neoplasm of major salivary gland' SubClassOf 'neoplasm of major salivary gland' 'benign neoplasm of major salivary gland' SubClassOf 'benign neoplasm of salivary gland' http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process 'nucleobase-containing compound biosynthetic process' SubClassOf 'organic cyclic compound biosynthetic process' 'nucleobase-containing compound biosynthetic process' SubClassOf 'biosynthetic process' http://www.ebi.ac.uk/efo/EFO_1000015 aldosterone-producing adenoma 'aldosterone-producing adenoma' SubClassOf 'primary aldosteronism' 'aldosterone-producing adenoma' SubClassOf 'adrenocortical adenoma' 'aldosterone-producing adenoma' SubClassOf 'primary aldosteronism' 'aldosterone-producing adenoma' SubClassOf 'adrenocortical adenoma' http://www.ebi.ac.uk/efo/EFO_1000013 Prinzmetal's angina 'Prinzmetal's angina' SubClassOf 'Coronary Vasospasm' 'Prinzmetal's angina' SubClassOf 'Coronary Vasospasm' http://www.ebi.ac.uk/efo/EFO_1000014 acidosis 'acidosis' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Acidosis') 'acidosis' SubClassOf 'disease has major feature' some 'Acidosis' 'acidosis' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Acidosis') 'acidosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Acidosis' http://www.ebi.ac.uk/efo/EFO_1000012 Rienhoff syndrome 'Rienhoff syndrome' SubClassOf 'Loeys-Dietz syndrome' 'Rienhoff syndrome' SubClassOf 'skeletal system disease' 'Rienhoff syndrome' SubClassOf 'Loeys-Dietz syndrome' 'Rienhoff syndrome' SubClassOf 'skeletal system disease' http://www.ebi.ac.uk/efo/EFO_1000019 breast synovial sarcoma 'breast synovial sarcoma' SubClassOf 'synovial sarcoma' 'breast synovial sarcoma' SubClassOf 'synovial sarcoma' http://www.ebi.ac.uk/efo/EFO_1000017 autosomal recessive disease 'autosomal recessive disease' SubClassOf 'autosomal genetic disease' 'autosomal recessive disease' SubClassOf 'autosomal genetic disease' http://www.ebi.ac.uk/efo/EFO_1000018 bladder disease 'bladder disease' SubClassOf 'urinary system disease' 'bladder disease' SubClassOf 'urinary system disease' http://www.ebi.ac.uk/efo/EFO_1000026 diffuse intrinsic pontine glioma 'diffuse intrinsic pontine glioma' SubClassOf 'childhood brain stem glioma' 'diffuse intrinsic pontine glioma' SubClassOf 'childhood brain stem glioma' http://www.ebi.ac.uk/efo/EFO_1000027 ependymal neoplasm 'ependymal neoplasm' SubClassOf 'glioma' 'ependymal neoplasm' SubClassOf 'glioma' http://www.ebi.ac.uk/efo/EFO_1000025 cystitis 'cystitis' SubClassOf 'bladder disease' 'cystitis' SubClassOf 'inflammatory disease' 'cystitis' SubClassOf 'bladder disease' 'cystitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1000023 chronic cystitis 'chronic cystitis' SubClassOf 'cystitis' 'chronic cystitis' SubClassOf 'cystitis' http://www.ebi.ac.uk/efo/EFO_1000020 cecum adenocarcinoma 'cecum adenocarcinoma' SubClassOf 'colon adenocarcinoma' 'cecum adenocarcinoma' SubClassOf 'cecum carcinoma' 'cecum adenocarcinoma' SubClassOf 'colon adenocarcinoma' 'cecum adenocarcinoma' SubClassOf 'cecum carcinoma' http://www.ebi.ac.uk/efo/EFO_1000021 cecum carcinoma 'cecum carcinoma' SubClassOf 'cecum cancer' 'cecum carcinoma' SubClassOf 'colon carcinoma' 'cecum carcinoma' SubClassOf 'cecum cancer' 'cecum carcinoma' SubClassOf 'colon carcinoma' http://www.ebi.ac.uk/efo/EFO_0000612 myocardial infarction 'myocardial infarction' SubClassOf 'myocardial disorder' 'myocardial infarction' SubClassOf 'disease has location' some 'heart' 'myocardial infarction' SubClassOf 'myocardial disorder' 'myocardial infarction' SubClassOf 'disease has location' some 'heart' http://www.ebi.ac.uk/efo/EFO_0000613 myxoid liposarcoma 'myxoid liposarcoma' SubClassOf 'myxoid/round cell liposarcoma' 'myxoid liposarcoma' SubClassOf 'myxoid/round cell liposarcoma' http://www.ebi.ac.uk/efo/EFO_0000616 neoplasm 'neoplasm' SubClassOf 'neoplastic disease or syndrome' 'neoplasm' SubClassOf 'neoplastic disease or syndrome' http://www.ebi.ac.uk/efo/EFO_1000028 ependymoma 'ependymoma' SubClassOf 'grade II glioma' 'ependymoma' SubClassOf 'ependymal neoplasm' 'ependymoma' SubClassOf 'grade II glioma' 'ependymoma' SubClassOf 'ependymal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000029 gastric adenosquamous carcinoma 'gastric adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'gastric adenosquamous carcinoma' SubClassOf 'Gastric Squamous Cell Carcinoma' 'gastric adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'gastric adenosquamous carcinoma' SubClassOf 'Gastric Squamous Cell Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000030 gastric tubular adenocarcinoma 'gastric tubular adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'gastric tubular adenocarcinoma' SubClassOf 'tubular adenocarcinoma' 'gastric tubular adenocarcinoma' SubClassOf 'tubular adenocarcinoma' 'gastric tubular adenocarcinoma' SubClassOf 'gastric adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000037 lung carcinoid tumor 'lung carcinoid tumor' SubClassOf 'carcinoid tumor' 'lung carcinoid tumor' SubClassOf 'pulmonary neuroendocrine tumor' 'lung carcinoid tumor' SubClassOf 'carcinoid tumor' 'lung carcinoid tumor' SubClassOf 'pulmonary neuroendocrine tumor' http://www.ebi.ac.uk/efo/EFO_1000035 infectious colitis 'infectious colitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'colon') 'infectious colitis' SubClassOf 'colitis' 'infectious colitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'colon') 'infectious colitis' SubClassOf 'colitis' http://www.ebi.ac.uk/efo/EFO_1000034 indeterminate colitis 'indeterminate colitis' SubClassOf 'colitis' 'indeterminate colitis' SubClassOf 'colitis' http://www.ebi.ac.uk/efo/EFO_1000032 granulosa cell tumor 'granulosa cell tumor' SubClassOf 'sex cord-stromal tumor' 'granulosa cell tumor' SubClassOf 'endocrine neoplasm' 'granulosa cell tumor' SubClassOf 'sex cord-stromal tumor' 'granulosa cell tumor' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000040 metaplastic breast carcinoma 'metaplastic breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'metaplastic breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000049 pulmonary tuberculosis 'pulmonary tuberculosis' SubClassOf 'respiratory system disease' 'pulmonary tuberculosis' SubClassOf 'tuberculosis' 'pulmonary tuberculosis' SubClassOf 'respiratory system disease' 'pulmonary tuberculosis' SubClassOf 'tuberculosis' http://www.ebi.ac.uk/efo/EFO_1000046 papillary lung adenocarcinoma 'papillary lung adenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'papillary lung adenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000047 pleomorphic breast carcinoma 'pleomorphic breast carcinoma' SubClassOf 'invasive breast ductal carcinoma' 'pleomorphic breast carcinoma' SubClassOf 'invasive breast ductal carcinoma' http://www.ebi.ac.uk/efo/EFO_1000044 pancreatic adenocarcinoma 'pancreatic adenocarcinoma' SubClassOf 'pancreatic carcinoma' 'pancreatic adenocarcinoma' SubClassOf 'adenocarcinoma' 'pancreatic adenocarcinoma' SubClassOf 'pancreatic carcinoma' 'pancreatic adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000630 oligoastrocytoma 'oligoastrocytoma' SubClassOf 'grade II glioma' 'oligoastrocytoma' SubClassOf 'mixed glioma' 'oligoastrocytoma' SubClassOf 'grade II glioma' 'oligoastrocytoma' SubClassOf 'mixed glioma' http://www.ebi.ac.uk/efo/EFO_1000045 pancreatic neuroendocrine tumor 'pancreatic neuroendocrine tumor' SubClassOf 'islet cell tumor' 'pancreatic neuroendocrine tumor' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'pancreatic neuroendocrine tumor' SubClassOf 'islet cell tumor' 'pancreatic neuroendocrine tumor' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' http://www.ebi.ac.uk/efo/EFO_0000632 oligodendroglioma 'oligodendroglioma' SubClassOf 'grade II glioma' 'oligodendroglioma' SubClassOf 'oligodendroglial tumor' 'oligodendroglioma' SubClassOf 'grade II glioma' 'oligodendroglioma' SubClassOf 'oligodendroglial tumor' http://www.ebi.ac.uk/efo/EFO_1000042 ovarian clear cell adenocarcinoma 'ovarian clear cell adenocarcinoma' SubClassOf 'ovarian clear cell cancer' 'ovarian clear cell adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'ovarian clear cell adenocarcinoma' SubClassOf 'ovarian clear cell cancer' 'ovarian clear cell adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000043 ovarian serous cystadenocarcinoma 'ovarian serous cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian serous cystadenocarcinoma' SubClassOf 'ovarian serous adenocarcinoma' 'ovarian serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' 'ovarian serous cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian serous cystadenocarcinoma' SubClassOf 'ovarian serous adenocarcinoma' 'ovarian serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000637 osteosarcoma 'osteosarcoma' SubClassOf 'sarcoma' 'osteosarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0000639 papillary cystadenocarcinoma 'papillary cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'papillary cystadenocarcinoma' SubClassOf 'Papillary Cystic Neoplasm' 'papillary cystadenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'papillary cystadenocarcinoma' SubClassOf 'Papillary Cystic Neoplasm' 'papillary cystadenocarcinoma' SubClassOf 'papillary adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000051 reproductive system neoplasm 'reproductive system neoplasm' SubClassOf 'neoplasm' 'reproductive system neoplasm' SubClassOf 'reproductive system disease' 'reproductive system neoplasm' SubClassOf 'neoplasm' 'reproductive system neoplasm' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000052 sex cord-stromal tumor 'sex cord-stromal tumor' SubClassOf 'reproductive system neoplasm' 'sex cord-stromal tumor' SubClassOf 'reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000057 nasal cavity squamous cell carcinoma 'nasal cavity squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'nasal cavity squamous cell carcinoma' SubClassOf 'nasal cavity carcinoma' 'nasal cavity squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'nasal cavity squamous cell carcinoma' SubClassOf 'nasal cavity carcinoma' http://www.ebi.ac.uk/efo/EFO_1000058 nasopharyngeal squamous cell carcinoma 'nasopharyngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'nasopharyngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000055 tongue squamous cell carcinoma 'tongue squamous cell carcinoma' SubClassOf 'oral squamous cell carcinoma' 'tongue squamous cell carcinoma' SubClassOf 'tongue cancer' 'tongue squamous cell carcinoma' SubClassOf 'oral squamous cell carcinoma' 'tongue squamous cell carcinoma' SubClassOf 'tongue cancer' http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma 'neuroblastoma' SubClassOf 'Neuroblastic Tumor' 'neuroblastoma' SubClassOf 'neurocristopathy' 'neuroblastoma' SubClassOf 'Neuroblastic Tumor' 'neuroblastoma' SubClassOf 'neurocristopathy' http://www.ebi.ac.uk/efo/EFO_1000053 squamous cell breast carcinoma 'squamous cell breast carcinoma' SubClassOf 'metaplastic breast carcinoma' 'squamous cell breast carcinoma' SubClassOf 'squamous cell carcinoma' 'squamous cell breast carcinoma' SubClassOf 'metaplastic breast carcinoma' 'squamous cell breast carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000054 thymic lymphoma 'thymic lymphoma' SubClassOf 'thymus cancer' 'thymic lymphoma' SubClassOf 'mediastinal malignant lymphoma' 'thymic lymphoma' SubClassOf 'thymus cancer' 'thymic lymphoma' SubClassOf 'mediastinal malignant lymphoma' http://www.ebi.ac.uk/efo/EFO_0000650 whooping cough 'whooping cough' SubClassOf 'disease has major feature' some 'Whooping cough' 'whooping cough' SubClassOf 'bordetellosis' 'whooping cough' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Whooping cough' 'whooping cough' SubClassOf 'bordetellosis' http://www.ebi.ac.uk/efo/EFO_0000653 phyllodes tumor 'phyllodes tumor' SubClassOf 'fibroepithelial neoplasm' 'phyllodes tumor' SubClassOf 'fibroepithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0011909 Charcot-Marie-Tooth disease dominant intermediate D 'Charcot-Marie-Tooth disease dominant intermediate D' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease dominant intermediate D' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0011906 congenital bile acid synthesis defect 1 'congenital bile acid synthesis defect 1' SubClassOf 'Congenital bile acid synthesis defect' 'congenital bile acid synthesis defect 1' SubClassOf 'Congenital bile acid synthesis defect' http://purl.obolibrary.org/obo/MONDO_0011907 acrocapitofemoral dysplasia 'acrocapitofemoral dysplasia' SubClassOf 'acromelic dysplasia' 'acrocapitofemoral dysplasia' SubClassOf 'osteochondrodysplasia' 'acrocapitofemoral dysplasia' SubClassOf 'acromelic dysplasia' 'acrocapitofemoral dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0011901 Charcot-Marie-Tooth disease axonal type 2H 'Charcot-Marie-Tooth disease axonal type 2H' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2H' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.ebi.ac.uk/efo/EFO_0000640 papillary renal cell carcinoma 'papillary renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' 'papillary renal cell carcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' 'papillary renal cell carcinoma' SubClassOf 'papillary adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000641 papillary thyroid carcinoma 'papillary thyroid carcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'papillary thyroid carcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0011902 Charcot-Marie-Tooth disease type 1F 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1F' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/MONDO_0011903 Charcot-Marie-Tooth disease type 2J 'Charcot-Marie-Tooth disease type 2J' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2J' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.ebi.ac.uk/efo/EFO_0000649 periodontitis 'periodontitis' SubClassOf 'inflammatory disease' 'periodontitis' SubClassOf 'periodontal disorder' 'periodontitis' SubClassOf 'inflammatory disease' 'periodontitis' SubClassOf 'periodontal disorder' http://www.ebi.ac.uk/efo/EFO_0009000 Mast Cell Neoplasm 'Mast Cell Neoplasm' SubClassOf 'myeloid neoplasm' 'Mast Cell Neoplasm' SubClassOf 'myeloid neoplasm' http://www.ebi.ac.uk/efo/EFO_0009001 Mastocytosis 'Mastocytosis' SubClassOf 'leukocyte disorder' 'Mastocytosis' SubClassOf 'Mast Cell Neoplasm' 'Mastocytosis' SubClassOf 'leukocyte disorder' 'Mastocytosis' SubClassOf 'Mast Cell Neoplasm' http://www.ebi.ac.uk/efo/EFO_0009002 splenic disease 'splenic disease' SubClassOf 'lymphatic system disease' 'splenic disease' SubClassOf 'lymphatic system disease' http://www.ebi.ac.uk/efo/EFO_0009003 ovarian dysfunction 'ovarian dysfunction' SubClassOf 'ovarian disease' 'ovarian dysfunction' SubClassOf 'ovarian disease' http://purl.obolibrary.org/obo/MONDO_0011911 craniolenticulosutural dysplasia 'craniolenticulosutural dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'craniolenticulosutural dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000673 prostate adenocarcinoma 'prostate adenocarcinoma' SubClassOf 'adenocarcinoma' 'prostate adenocarcinoma' SubClassOf 'prostate carcinoma' 'prostate adenocarcinoma' SubClassOf 'adenocarcinoma' 'prostate adenocarcinoma' SubClassOf 'prostate carcinoma' http://purl.obolibrary.org/obo/MONDO_0011915 mitral valve prolapse, myxomatous 2 'mitral valve prolapse, myxomatous 2' SubClassOf 'familial mitral valve prolapse' 'mitral valve prolapse, myxomatous 2' SubClassOf 'familial mitral valve prolapse' http://purl.obolibrary.org/obo/MONDO_0011916 Charcot-Marie-Tooth disease axonal type 2K 'Charcot-Marie-Tooth disease axonal type 2K' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2K' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis 'psoriasis' DisjointWith 'pityriasis rosea' 'psoriasis' SubClassOf 'dermatitis' 'psoriasis' SubClassOf 'immune system disease' 'psoriasis' DisjointWith 'pityriasis rosea' 'psoriasis' SubClassOf 'dermatitis' 'psoriasis' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0011913 Alzheimer disease 3 'Alzheimer disease 3' SubClassOf 'early-onset autosomal dominant Alzheimer disease' 'Alzheimer disease 3' SubClassOf 'early-onset autosomal dominant Alzheimer disease' http://www.ebi.ac.uk/efo/EFO_0000677 mental or behavioural disorder 'mental or behavioural disorder' DisjointWith 'chronic fatigue syndrome' 'mental or behavioural disorder' DisjointWith 'chronic fatigue syndrome' http://www.ebi.ac.uk/efo/EFO_0000678 pterygium 'pterygium' SubClassOf 'Benign Conjunctival Neoplasm' 'pterygium' SubClassOf 'Benign Conjunctival Neoplasm' http://purl.obolibrary.org/obo/MONDO_0011928 caudal duplication 'caudal duplication' SubClassOf 'digestive system disease' 'caudal duplication' SubClassOf 'syndromic disease' 'caudal duplication' SubClassOf 'digestive system disease' 'caudal duplication' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011929 chromosome 1p36 deletion syndrome 'chromosome 1p36 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 1' 'chromosome 1p36 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0011922 nonimmune chronic idiopathic neutropenia of adults 'nonimmune chronic idiopathic neutropenia of adults' SubClassOf 'genetic disorder' 'nonimmune chronic idiopathic neutropenia of adults' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0000660 polycystic ovary syndrome 'polycystic ovary syndrome' SubClassOf 'genetic disorder' 'polycystic ovary syndrome' SubClassOf 'syndromic disease' 'polycystic ovary syndrome' SubClassOf 'endocrine system disease' 'polycystic ovary syndrome' SubClassOf 'genetic disorder' 'polycystic ovary syndrome' SubClassOf 'syndromic disease' 'polycystic ovary syndrome' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0000662 polyp 'polyp' SubClassOf 'cancer or benign tumor' 'polyp' SubClassOf 'cancer or benign tumor' http://purl.obolibrary.org/obo/MONDO_0011927 tufted angioma 'tufted angioma' SubClassOf 'skin hemangioma' 'tufted angioma' SubClassOf 'skin hemangioma' http://purl.obolibrary.org/obo/MONDO_0011925 congenital merosin-deficient muscular dystrophy 1A 'congenital merosin-deficient muscular dystrophy 1A' SubClassOf 'congenital muscular dystrophy' 'congenital merosin-deficient muscular dystrophy 1A' SubClassOf 'LAMA2-related muscular dystrophy' 'congenital merosin-deficient muscular dystrophy 1A' SubClassOf 'congenital muscular dystrophy' 'congenital merosin-deficient muscular dystrophy 1A' SubClassOf 'LAMA2-related muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0000666 portal hypertension 'portal hypertension' SubClassOf 'hepatic vascular disorder' 'portal hypertension' SubClassOf 'hepatic vascular disorder' http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia 'preeclampsia' SubClassOf 'toxemia of pregnancy' 'preeclampsia' SubClassOf 'toxemia of pregnancy' http://purl.obolibrary.org/obo/MONDO_0011939 Spondyloenchondrodysplasia with immune dysregulation 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'type 1 interferonopathy of childhood' 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'spondylometaphyseal dysplasia' 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'type 1 interferonopathy of childhood' 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'spondylometaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0009028 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'autosomal recessive disease' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'rheumatic disease' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'autosomal recessive disease' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'rheumatic disease' http://www.ebi.ac.uk/efo/EFO_0009029 Central precocious puberty 'Central precocious puberty' SubClassOf 'precocious puberty' 'Central precocious puberty' SubClassOf 'precocious puberty' http://www.ebi.ac.uk/efo/EFO_0000691 sarcoma 'sarcoma' SubClassOf 'cancer' 'sarcoma' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0011933 ALG2-congenital disorder of glycosylation 'ALG2-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG2-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://www.ebi.ac.uk/efo/EFO_0000693 schwannoma 'schwannoma' SubClassOf 'benign peripheral nerve sheath tumor' 'schwannoma' SubClassOf 'nerve sheath neoplasm' 'schwannoma' SubClassOf 'benign peripheral nerve sheath tumor' 'schwannoma' SubClassOf 'nerve sheath neoplasm' http://purl.obolibrary.org/obo/MONDO_0011934 dermatofibrosarcoma protuberans 'dermatofibrosarcoma protuberans' SubClassOf 'integumentary system cancer' 'dermatofibrosarcoma protuberans' SubClassOf 'fibrosarcoma' 'dermatofibrosarcoma protuberans' SubClassOf 'integumentary system cancer' 'dermatofibrosarcoma protuberans' SubClassOf 'fibrosarcoma' http://www.ebi.ac.uk/efo/EFO_0000694 severe acute respiratory syndrome 'severe acute respiratory syndrome' SubClassOf 'respiratory system disease' 'severe acute respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' 'severe acute respiratory syndrome' SubClassOf 'respiratory system disease' 'severe acute respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' http://purl.obolibrary.org/obo/MONDO_0011938 atrial septal defect 2 'atrial septal defect 2' SubClassOf 'atrial heart septal defect' 'atrial septal defect 2' SubClassOf 'atrial heart septal defect' http://www.ebi.ac.uk/efo/EFO_0000698 signet ring cell carcinoma 'signet ring cell carcinoma' SubClassOf 'adenocarcinoma' 'signet ring cell carcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0011936 microphthalmia with brain and digit anomalies 'microphthalmia with brain and digit anomalies' SubClassOf 'syndromic microphthalmia' 'microphthalmia with brain and digit anomalies' SubClassOf 'syndromic microphthalmia' http://www.ebi.ac.uk/efo/EFO_0000699 Sjogren syndrome 'Sjogren syndrome' SubClassOf 'disease shares features of' some 'IgG4-related dacryoadenitis and sialadenitis' 'Sjogren syndrome' SubClassOf 'salivary gland disease' 'Sjogren syndrome' SubClassOf 'syndromic disease' 'Sjogren syndrome' SubClassOf 'salivary gland disease' 'Sjogren syndrome' SubClassOf 'syndromic disease' 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'IgG4-related dacryoadenitis and sialadenitis' http://www.ebi.ac.uk/efo/EFO_0009011 Arteritis 'Arteritis' SubClassOf 'vasculitis' 'Arteritis' SubClassOf 'arterial disorder' 'Arteritis' SubClassOf 'vasculitis' 'Arteritis' SubClassOf 'arterial disorder' http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma 'renal cell carcinoma' SubClassOf 'adenocarcinoma' 'renal cell carcinoma' SubClassOf 'renal carcinoma' 'renal cell carcinoma' SubClassOf 'adenocarcinoma' 'renal cell carcinoma' SubClassOf 'renal carcinoma' http://purl.obolibrary.org/obo/MONDO_0011945 Gaucher disease perinatal lethal 'Gaucher disease perinatal lethal' SubClassOf 'Gaucher disease' 'Gaucher disease perinatal lethal' SubClassOf 'Gaucher disease' http://www.ebi.ac.uk/efo/EFO_0000684 respiratory system disease 'respiratory system disease' SubClassOf 'disease has location' some 'respiratory system' 'respiratory system disease' SubClassOf 'disease has location' some 'respiratory system' http://purl.obolibrary.org/obo/MONDO_0011948 pontocerebellar hypoplasia type 3 'pontocerebellar hypoplasia type 3' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 3' SubClassOf 'pontocerebellar hypoplasia' http://www.ebi.ac.uk/efo/EFO_0000685 rheumatoid arthritis 'rheumatoid arthritis' SubClassOf 'arthritis' 'rheumatoid arthritis' SubClassOf 'rheumatic disease' 'rheumatoid arthritis' SubClassOf 'arthritis' 'rheumatoid arthritis' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0011946 diaphanospondylodysostosis 'diaphanospondylodysostosis' SubClassOf 'spondylodysplastic dysplasia' 'diaphanospondylodysostosis' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011953 familial acute necrotizing encephalopathy 'familial acute necrotizing encephalopathy' SubClassOf 'Mendelian encephalopathy' 'familial acute necrotizing encephalopathy' SubClassOf 'encephalopathy, acute, infection-induced' 'familial acute necrotizing encephalopathy' SubClassOf 'Mendelian encephalopathy' 'familial acute necrotizing encephalopathy' SubClassOf 'encephalopathy, acute, infection-induced' http://purl.obolibrary.org/obo/MONDO_0011959 sweet syndrome 'sweet syndrome' SubClassOf 'skin disease' 'sweet syndrome' SubClassOf 'syndromic disease' 'sweet syndrome' SubClassOf 'rheumatic disease' 'sweet syndrome' SubClassOf 'skin disease' 'sweet syndrome' SubClassOf 'syndromic disease' 'sweet syndrome' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0011957 retinal macular dystrophy type 2 'retinal macular dystrophy type 2' SubClassOf 'macular dystrophy, retinal' 'retinal macular dystrophy type 2' SubClassOf 'macular dystrophy, retinal' http://purl.obolibrary.org/obo/MONDO_0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia 'infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' 'infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0009052 Pleuropulmonary blastoma 'Pleuropulmonary blastoma' SubClassOf 'pulmonary blastoma' 'Pleuropulmonary blastoma' SubClassOf 'pulmonary blastoma' http://www.ebi.ac.uk/efo/EFO_0009053 Primary progressive aphasia 'Primary progressive aphasia' SubClassOf 'neurodegenerative disease' 'Primary progressive aphasia' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0009039 Congenital bile acid synthesis defect 'Congenital bile acid synthesis defect' SubClassOf 'steroid inherited metabolic disorder' 'Congenital bile acid synthesis defect' SubClassOf 'steroid inherited metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0011964 DPAGT1-congenital disorder of glycosylation 'DPAGT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'DPAGT1-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'DPAGT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'DPAGT1-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0011965 familial temporal lobe epilepsy 2 'familial temporal lobe epilepsy 2' SubClassOf 'temporal lobe epilepsy' 'familial temporal lobe epilepsy 2' SubClassOf 'temporal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0011968 autosomal recessive limb-girdle muscular dystrophy type 2D 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'qualitative or quantitative defects of alpha-sarcoglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'qualitative or quantitative defects of alpha-sarcoglycan' http://purl.obolibrary.org/obo/MONDO_0011969 ALG8-congenital disorder of glycosylation 'ALG8-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG8-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0011962 endometrial cancer 'endometrial cancer' SubClassOf 'endometrium neoplasm' 'endometrial cancer' SubClassOf 'uterine cancer' 'endometrial cancer' SubClassOf 'endometrium neoplasm' 'endometrial cancer' SubClassOf 'uterine cancer' http://purl.obolibrary.org/obo/MONDO_0011961 hereditary sensory and autonomic neuropathy type 1B 'hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' 'hereditary sensory and autonomic neuropathy type 1B' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' http://www.ebi.ac.uk/efo/EFO_0009041 Cushing syndrome due to macronodular adrenal hyperplasia 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'ACTH-independent Cushing syndrome' 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'ACTH-independent Cushing syndrome' http://www.ebi.ac.uk/efo/EFO_0009043 Familial porphyria cutanea tarda 'Familial porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' 'Familial porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' http://purl.obolibrary.org/obo/MONDO_0021300 adenoid cystic carcinoma of oropharynx 'adenoid cystic carcinoma of oropharynx' SubClassOf 'adenoid cystic carcinoma' 'adenoid cystic carcinoma of oropharynx' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0021301 adenoma of nipple 'adenoma of nipple' SubClassOf 'nipple neoplasm' 'adenoma of nipple' SubClassOf 'nipple neoplasm' http://purl.obolibrary.org/obo/MONDO_0011977 8q22.1 microdeletion syndrome '8q22.1 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '8q22.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' '8q22.1 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '8q22.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy 'B-lymphoblastic leukemia/lymphoma with hypodiploidy' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' 'B-lymphoblastic leukemia/lymphoma with hypodiploidy' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' http://purl.obolibrary.org/obo/MONDO_0011975 paternal uniparental disomy of chromosome 14 'paternal uniparental disomy of chromosome 14' SubClassOf 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'paternal uniparental disomy of chromosome 14' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 14' SubClassOf 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'paternal uniparental disomy of chromosome 14' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0011976 lipodystrophy-intellectual disability-deafness syndrome 'lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'hereditary lipodystrophy' 'lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'hereditary lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0011979 adult-onset foveomacular vitelliform dystrophy 'adult-onset foveomacular vitelliform dystrophy' SubClassOf 'vitelliform macular dystrophy' 'adult-onset foveomacular vitelliform dystrophy' SubClassOf 'vitelliform macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0011970 rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 'rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0011973 zinc deficiency, transient neonatal 'zinc deficiency, transient neonatal' SubClassOf 'genetic disorder' 'zinc deficiency, transient neonatal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011971 hyper-IgM syndrome type 5 'hyper-IgM syndrome type 5' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome type 5' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0011972 ovarian hyperstimulation syndrome 'ovarian hyperstimulation syndrome' SubClassOf 'ovarian disease' 'ovarian hyperstimulation syndrome' SubClassOf 'ovarian disease' http://purl.obolibrary.org/obo/MONDO_0021303 adenoma of small intestine 'adenoma of small intestine' SubClassOf 'small intestine neoplasm' 'adenoma of small intestine' SubClassOf 'Digestive System Adenoma' 'adenoma of small intestine' SubClassOf 'small intestine neoplasm' 'adenoma of small intestine' SubClassOf 'Digestive System Adenoma' http://purl.obolibrary.org/obo/MONDO_0021309 malignant neoplasm of endocervix 'malignant neoplasm of endocervix' SubClassOf 'cervical cancer' 'malignant neoplasm of endocervix' SubClassOf 'cervical cancer' http://purl.obolibrary.org/obo/MONDO_0011988 neutrophil immunodeficiency syndrome 'neutrophil immunodeficiency syndrome' SubClassOf 'functional neutrophil defect' 'neutrophil immunodeficiency syndrome' SubClassOf 'T-B- severe combined immunodeficiency' 'neutrophil immunodeficiency syndrome' SubClassOf 'functional neutrophil defect' 'neutrophil immunodeficiency syndrome' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011984 synpolydactyly type 2 'synpolydactyly type 2' SubClassOf 'non-syndromic synpolydactyly' 'synpolydactyly type 2' SubClassOf 'polydactyly-syndactyly-triphalangism' 'synpolydactyly type 2' SubClassOf 'non-syndromic synpolydactyly' 'synpolydactyly type 2' SubClassOf 'polydactyly-syndactyly-triphalangism' http://purl.obolibrary.org/obo/MONDO_0011985 hyper-IgM syndrome type 4 'hyper-IgM syndrome type 4' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome type 4' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/DOID_0050890 synucleinopathy 'synucleinopathy' SubClassOf 'proteostasis deficiencies' 'synucleinopathy' SubClassOf 'proteostasis deficiencies' http://purl.obolibrary.org/obo/MONDO_0021320 malignant tumor of floor of mouth 'malignant tumor of floor of mouth' SubClassOf 'head and neck malignant neoplasia' 'malignant tumor of floor of mouth' SubClassOf 'neoplasm of floor of mouth' 'malignant tumor of floor of mouth' SubClassOf 'head and neck malignant neoplasia' 'malignant tumor of floor of mouth' SubClassOf 'neoplasm of floor of mouth' http://purl.obolibrary.org/obo/MONDO_0021321 malignant tumor of extrahepatic bile duct 'malignant tumor of extrahepatic bile duct' SubClassOf 'extrahepatic bile duct neoplasm' 'malignant tumor of extrahepatic bile duct' SubClassOf 'extrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0021322 malignant tumor of meninges 'malignant tumor of meninges' SubClassOf 'meningeal neoplasm' 'malignant tumor of meninges' SubClassOf 'central nervous system cancer' 'malignant tumor of meninges' SubClassOf 'meningeal neoplasm' 'malignant tumor of meninges' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0011997 Hermansky-Pudlak syndrome 2 'Hermansky-Pudlak syndrome 2' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome 2' SubClassOf 'constitutional neutropenia' 'Hermansky-Pudlak syndrome 2' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome 2' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0011998 autosomal dominant slowed nerve conduction velocity 'autosomal dominant slowed nerve conduction velocity' SubClassOf 'hereditary motor and sensory neuropathy' 'autosomal dominant slowed nerve conduction velocity' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011992 hereditary spastic paraplegia 25 'hereditary spastic paraplegia 25' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 25' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011995 cataract - congenital heart disease - neural tube defect syndrome 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'disorder of development or morphogenesis' 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0021327 carcinoma of urethra 'carcinoma of urethra' SubClassOf 'carcinoma' 'carcinoma of urethra' SubClassOf 'urethra cancer' 'carcinoma of urethra' SubClassOf 'carcinoma' 'carcinoma of urethra' SubClassOf 'urethra cancer' http://purl.obolibrary.org/obo/MONDO_0021310 malignant tumor of neck 'malignant tumor of neck' SubClassOf 'head and neck malignant neoplasia' 'malignant tumor of neck' SubClassOf 'neoplasm of neck' 'malignant tumor of neck' SubClassOf 'head and neck malignant neoplasia' 'malignant tumor of neck' SubClassOf 'neoplasm of neck' http://purl.obolibrary.org/obo/MONDO_0021311 malignant tumor of parathyroid gland 'malignant tumor of parathyroid gland' SubClassOf 'tumor of parathyroid gland' 'malignant tumor of parathyroid gland' SubClassOf 'tumor of parathyroid gland' http://purl.obolibrary.org/obo/MONDO_0021312 malignant tumor of adrenal cortex 'malignant tumor of adrenal cortex' SubClassOf 'adrenal gland cancer' 'malignant tumor of adrenal cortex' SubClassOf 'adrenal gland cancer' http://purl.obolibrary.org/obo/MONDO_0021313 eyelid cancer 'eyelid cancer' SubClassOf 'eyelid neoplasm' 'eyelid cancer' SubClassOf 'ocular cancer' 'eyelid cancer' SubClassOf 'eyelid neoplasm' 'eyelid cancer' SubClassOf 'ocular cancer' http://purl.obolibrary.org/obo/MONDO_0021315 malignant tumor of nasopharynx 'malignant tumor of nasopharynx' SubClassOf 'nasopharyngeal neoplasm' 'malignant tumor of nasopharynx' SubClassOf 'nasopharyngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021316 malignant tumor of minor salivary gland 'malignant tumor of minor salivary gland' SubClassOf 'neoplasm of minor salivary gland' 'malignant tumor of minor salivary gland' SubClassOf 'neoplasm of minor salivary gland' http://purl.obolibrary.org/obo/MONDO_0021317 cancer of cerebellum 'cancer of cerebellum' SubClassOf 'brain cancer' 'cancer of cerebellum' SubClassOf 'cerebellar neoplasm' 'cancer of cerebellum' SubClassOf 'brain cancer' 'cancer of cerebellum' SubClassOf 'cerebellar neoplasm' http://purl.obolibrary.org/obo/MONDO_0021340 intertrigo 'intertrigo' SubClassOf 'dermatitis' 'intertrigo' SubClassOf 'dermatitis' http://purl.obolibrary.org/obo/MONDO_0021343 carcinoma of floor of mouth 'carcinoma of floor of mouth' SubClassOf 'malignant tumor of floor of mouth' 'carcinoma of floor of mouth' SubClassOf 'head and neck carcinoma' 'carcinoma of floor of mouth' SubClassOf 'malignant tumor of floor of mouth' 'carcinoma of floor of mouth' SubClassOf 'head and neck carcinoma' http://purl.obolibrary.org/obo/MONDO_0021348 neoplasm of testis 'neoplasm of testis' SubClassOf 'testicular disease' 'neoplasm of testis' SubClassOf 'testicular disease' http://purl.obolibrary.org/obo/MONDO_0021333 carcinoma of lip 'carcinoma of lip' SubClassOf 'lip cancer' 'carcinoma of lip' SubClassOf 'lip cancer' http://purl.obolibrary.org/obo/MONDO_0021334 immunoproliferative disorder 'immunoproliferative disorder' SubClassOf 'immune system disease' 'immunoproliferative disorder' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0021335 carcinoma of duodenum 'carcinoma of duodenum' SubClassOf 'small intestine carcinoma' 'carcinoma of duodenum' SubClassOf 'duodenum cancer' 'carcinoma of duodenum' SubClassOf 'small intestine carcinoma' 'carcinoma of duodenum' SubClassOf 'duodenum cancer' http://purl.obolibrary.org/obo/MONDO_0021337 tonsil carcinoma 'tonsil carcinoma' SubClassOf 'tonsil cancer' 'tonsil carcinoma' SubClassOf 'tonsil cancer' http://purl.obolibrary.org/obo/MONDO_0021364 neoplasm of oropharynx 'neoplasm of oropharynx' SubClassOf 'pharynx neoplasm' 'neoplasm of oropharynx' SubClassOf 'digestive system disease' 'neoplasm of oropharynx' SubClassOf 'pharynx neoplasm' 'neoplasm of oropharynx' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0021366 neoplasm of middle ear 'neoplasm of middle ear' SubClassOf 'middle ear disorder' 'neoplasm of middle ear' SubClassOf 'ear neoplasm' 'neoplasm of middle ear' SubClassOf 'middle ear disorder' 'neoplasm of middle ear' SubClassOf 'ear neoplasm' http://purl.obolibrary.org/obo/MONDO_0021368 neoplasm of major salivary gland 'neoplasm of major salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' 'neoplasm of major salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland 'tumor of parathyroid gland' SubClassOf 'parathyroid disease' 'tumor of parathyroid gland' SubClassOf 'parathyroid disease' http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax 'neoplasm of thorax' SubClassOf 'neoplasm' 'neoplasm of thorax' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021351 neoplasm of neck 'neoplasm of neck' SubClassOf 'head and neck neoplasia' 'neoplasm of neck' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue 'tumor of adipose tissue' SubClassOf 'mesenchymal cell neoplasm' 'tumor of adipose tissue' SubClassOf 'mesenchymal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0021355 neoplasm of esophagus 'neoplasm of esophagus' SubClassOf 'digestive system neoplasm' 'neoplasm of esophagus' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021358 neoplasm of hypopharynx 'neoplasm of hypopharynx' SubClassOf 'pharynx neoplasm' 'neoplasm of hypopharynx' SubClassOf 'pharynx neoplasm' http://purl.obolibrary.org/obo/MONDO_0021383 neoplasm of floor of mouth 'neoplasm of floor of mouth' SubClassOf 'mouth disease' 'neoplasm of floor of mouth' SubClassOf 'head and neck neoplasia' 'neoplasm of floor of mouth' SubClassOf 'mouth disease' 'neoplasm of floor of mouth' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0021385 extrahepatic bile duct neoplasm 'extrahepatic bile duct neoplasm' SubClassOf 'bile duct neoplasm' 'extrahepatic bile duct neoplasm' SubClassOf 'bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0021386 neoplasm of mediastinum 'neoplasm of mediastinum' SubClassOf 'neoplasm of thorax' 'neoplasm of mediastinum' SubClassOf 'neoplasm of thorax' http://purl.obolibrary.org/obo/MONDO_0021380 neoplasm of myocardium 'neoplasm of myocardium' SubClassOf 'Heart neoplasm' 'neoplasm of myocardium' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0021381 neoplasm of pericardium 'neoplasm of pericardium' SubClassOf 'neoplasm of thorax' 'neoplasm of pericardium' SubClassOf 'neoplasm of thorax' http://purl.obolibrary.org/obo/MONDO_0021372 neoplasm of temporal lobe 'neoplasm of temporal lobe' SubClassOf 'neoplasm of cerebral hemisphere' 'neoplasm of temporal lobe' SubClassOf 'neoplasm of cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0021374 neoplasm of cerebral hemisphere 'neoplasm of cerebral hemisphere' SubClassOf 'brain neoplasm' 'neoplasm of cerebral hemisphere' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0021375 tumor of duodenum 'tumor of duodenum' SubClassOf 'small intestine neoplasm' 'tumor of duodenum' SubClassOf 'duodenal disorder' 'tumor of duodenum' SubClassOf 'small intestine neoplasm' 'tumor of duodenum' SubClassOf 'duodenal disorder' http://purl.obolibrary.org/obo/MONDO_0021378 neoplasm of endocardium 'neoplasm of endocardium' SubClassOf 'Heart neoplasm' 'neoplasm of endocardium' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0021379 neoplasm of epicardium 'neoplasm of epicardium' SubClassOf 'neoplasm of pericardium' 'neoplasm of epicardium' SubClassOf 'Heart neoplasm' 'neoplasm of epicardium' SubClassOf 'neoplasm of pericardium' 'neoplasm of epicardium' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0021370 neoplasm of minor salivary gland 'neoplasm of minor salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' 'neoplasm of minor salivary gland' SubClassOf 'Mixed Tumor of the Salivary Gland' http://purl.obolibrary.org/obo/MONDO_0021394 polyp of vagina 'polyp of vagina' SubClassOf 'polyp' 'polyp of vagina' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0021396 polyp of vulva 'polyp of vulva' SubClassOf 'polyp' 'polyp of vulva' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0021398 polyp of rectum 'polyp of rectum' SubClassOf 'polyp of large intestine' 'polyp of rectum' SubClassOf 'polyp of large intestine' http://purl.obolibrary.org/obo/MONDO_0021390 polyp of ureter 'polyp of ureter' SubClassOf 'polyp' 'polyp of ureter' SubClassOf 'ureteral neoplasm' 'polyp of ureter' SubClassOf 'polyp' 'polyp of ureter' SubClassOf 'ureteral neoplasm' http://purl.obolibrary.org/obo/MONDO_0021392 polyp of large intestine 'polyp of large intestine' SubClassOf 'polyp' 'polyp of large intestine' SubClassOf 'polyp' http://www.ebi.ac.uk/efo/EFO_1000103 Bartholin Gland Carcinoma 'Bartholin Gland Carcinoma' SubClassOf 'vulvar carcinoma' 'Bartholin Gland Carcinoma' SubClassOf 'Bartholin gland neoplasm' 'Bartholin Gland Carcinoma' SubClassOf 'vulvar carcinoma' 'Bartholin Gland Carcinoma' SubClassOf 'Bartholin gland neoplasm' http://www.ebi.ac.uk/efo/EFO_1000104 Bartholin Gland Squamous Cell Carcinoma 'Bartholin Gland Squamous Cell Carcinoma' SubClassOf 'Bartholin Gland Carcinoma' 'Bartholin Gland Squamous Cell Carcinoma' SubClassOf 'Vulvar Squamous Cell Carcinoma' 'Bartholin Gland Squamous Cell Carcinoma' SubClassOf 'Bartholin Gland Carcinoma' 'Bartholin Gland Squamous Cell Carcinoma' SubClassOf 'Vulvar Squamous Cell Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000102 B-Cell Prolymphocytic Leukemia 'B-Cell Prolymphocytic Leukemia' SubClassOf 'neoplasm of mature B-cells' 'B-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' 'B-Cell Prolymphocytic Leukemia' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' 'B-Cell Prolymphocytic Leukemia' SubClassOf 'neoplasm of mature B-cells' 'B-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' 'B-Cell Prolymphocytic Leukemia' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' http://www.ebi.ac.uk/efo/EFO_1000100 Atypical Lobular Breast Hyperplasia 'Atypical Lobular Breast Hyperplasia' SubClassOf 'hyperplasia' 'Atypical Lobular Breast Hyperplasia' SubClassOf 'lobular neoplasia' 'Atypical Lobular Breast Hyperplasia' SubClassOf 'hyperplasia' 'Atypical Lobular Breast Hyperplasia' SubClassOf 'lobular neoplasia' http://www.ebi.ac.uk/efo/EFO_1000107 Benign Brain Neoplasm 'Benign Brain Neoplasm' SubClassOf 'brain neoplasm' 'Benign Brain Neoplasm' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_1000108 Benign Carotid Body Paraganglioma 'Benign Carotid Body Paraganglioma' SubClassOf 'carotid body paraganglioma' 'Benign Carotid Body Paraganglioma' SubClassOf 'carotid body paraganglioma' http://www.ebi.ac.uk/efo/EFO_1000105 Basaloid Carcinoma 'Basaloid Carcinoma' SubClassOf 'carcinoma' 'Basaloid Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000106 Benign Adrenal Gland Pheochromocytoma 'Benign Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' 'Benign Adrenal Gland Pheochromocytoma' SubClassOf 'benign neoplasm of adrenal medulla' 'Benign Adrenal Gland Pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' 'Benign Adrenal Gland Pheochromocytoma' SubClassOf 'benign neoplasm of adrenal medulla' http://www.ebi.ac.uk/efo/EFO_1000110 Benign Conjunctival Neoplasm 'Benign Conjunctival Neoplasm' SubClassOf 'conjunctival tumor' 'Benign Conjunctival Neoplasm' SubClassOf 'benign neoplasm of eye' 'Benign Conjunctival Neoplasm' SubClassOf 'conjunctival tumor' 'Benign Conjunctival Neoplasm' SubClassOf 'benign neoplasm of eye' http://www.ebi.ac.uk/efo/EFO_1000116 Benign Ovarian Neoplasm 'Benign Ovarian Neoplasm' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Neoplasm' SubClassOf 'benign female reproductive system neoplasm' 'Benign Ovarian Neoplasm' SubClassOf 'ovarian neoplasm' 'Benign Ovarian Neoplasm' SubClassOf 'benign female reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000125 Bladder Adenocarcinoma 'Bladder Adenocarcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Bladder Adenocarcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000126 Bladder Flat Intraepithelial Lesion 'Bladder Flat Intraepithelial Lesion' SubClassOf 'bladder tumor' 'Bladder Flat Intraepithelial Lesion' SubClassOf 'bladder tumor' http://www.ebi.ac.uk/efo/EFO_1000123 Bile Duct Adenoma 'Bile Duct Adenoma' SubClassOf 'bile duct neoplasm' 'Bile Duct Adenoma' SubClassOf 'Digestive System Adenoma' 'Bile Duct Adenoma' SubClassOf 'bile duct neoplasm' 'Bile Duct Adenoma' SubClassOf 'Digestive System Adenoma' http://www.ebi.ac.uk/efo/EFO_1000124 Biphasic Mesothelioma 'Biphasic Mesothelioma' SubClassOf 'Malignant Mesothelioma' 'Biphasic Mesothelioma' SubClassOf 'Malignant Mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000121 Benign Smooth Muscle Neoplasm 'Benign Smooth Muscle Neoplasm' SubClassOf 'benign muscle neoplasm' 'Benign Smooth Muscle Neoplasm' SubClassOf 'smooth muscle tumor' 'Benign Smooth Muscle Neoplasm' SubClassOf 'benign muscle neoplasm' 'Benign Smooth Muscle Neoplasm' SubClassOf 'smooth muscle tumor' http://www.ebi.ac.uk/efo/EFO_1000122 Benign Thyroid Gland Neoplasm 'Benign Thyroid Gland Neoplasm' SubClassOf 'benign endocrine neoplasm' 'Benign Thyroid Gland Neoplasm' SubClassOf 'thyroid neoplasm' 'Benign Thyroid Gland Neoplasm' SubClassOf 'benign endocrine neoplasm' 'Benign Thyroid Gland Neoplasm' SubClassOf 'thyroid neoplasm' http://www.ebi.ac.uk/efo/EFO_1000129 Bladder Small Cell Neuroendocrine Carcinoma 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000127 Bladder Inflammatory Myofibroblastic Tumor 'Bladder Inflammatory Myofibroblastic Tumor' SubClassOf 'inflammatory myofibroblastic tumor' 'Bladder Inflammatory Myofibroblastic Tumor' SubClassOf 'bladder tumor' 'Bladder Inflammatory Myofibroblastic Tumor' SubClassOf 'inflammatory myofibroblastic tumor' 'Bladder Inflammatory Myofibroblastic Tumor' SubClassOf 'bladder tumor' http://www.ebi.ac.uk/efo/EFO_1000130 Bladder Squamous Cell Carcinoma 'Bladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Bladder Squamous Cell Carcinoma' SubClassOf 'urinary bladder carcinoma' 'Bladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Bladder Squamous Cell Carcinoma' SubClassOf 'urinary bladder carcinoma' http://www.ebi.ac.uk/efo/EFO_1000131 Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive 'Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive' SubClassOf 'chronic myelogenous leukemia' 'Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive' SubClassOf 'chronic myelogenous leukemia' http://www.ebi.ac.uk/efo/EFO_1000139 Borderline Ovarian Serous Tumor 'Borderline Ovarian Serous Tumor' SubClassOf 'Borderline Ovarian Surface Epithelial-Stromal Tumor' 'Borderline Ovarian Serous Tumor' SubClassOf 'ovarian serous tumor' 'Borderline Ovarian Serous Tumor' SubClassOf 'Borderline Ovarian Surface Epithelial-Stromal Tumor' 'Borderline Ovarian Serous Tumor' SubClassOf 'ovarian serous tumor' http://www.ebi.ac.uk/efo/EFO_1000140 Borderline Ovarian Surface Epithelial-Stromal Tumor 'Borderline Ovarian Surface Epithelial-Stromal Tumor' SubClassOf 'ovarian epithelial tumor' 'Borderline Ovarian Surface Epithelial-Stromal Tumor' SubClassOf 'ovarian epithelial tumor' http://www.ebi.ac.uk/efo/EFO_1000147 C-Cell Hyperplasia 'C-Cell Hyperplasia' SubClassOf 'thyroid disease' 'C-Cell Hyperplasia' SubClassOf 'hyperplasia' 'C-Cell Hyperplasia' SubClassOf 'thyroid disease' 'C-Cell Hyperplasia' SubClassOf 'hyperplasia' http://www.ebi.ac.uk/efo/EFO_1000148 Calcifying Fibrous Tumor 'Calcifying Fibrous Tumor' SubClassOf 'benign neoplasm' 'Calcifying Fibrous Tumor' SubClassOf 'benign neoplasm' http://www.ebi.ac.uk/efo/EFO_1000145 breast fibrosis 'breast fibrosis' SubClassOf 'non-proliferative fibrocystic change of the breast' 'breast fibrosis' SubClassOf 'non-proliferative fibrocystic change of the breast' http://www.ebi.ac.uk/efo/EFO_1000146 Breast Mucosa-Associated Lymphoid Tissue Lymphoma 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' http://www.ebi.ac.uk/efo/EFO_1000143 Breast Carcinoma by Gene Expression Profile 'Breast Carcinoma by Gene Expression Profile' SubClassOf 'breast carcinoma' 'Breast Carcinoma by Gene Expression Profile' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1000144 Breast Diffuse Large B-Cell Lymphoma 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'breast lymphoma' 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'breast lymphoma' 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000142 Brain Stem Glioma 'Brain Stem Glioma' SubClassOf 'brain glioma' 'Brain Stem Glioma' SubClassOf 'brainstem cancer' 'Brain Stem Glioma' SubClassOf 'brain glioma' 'Brain Stem Glioma' SubClassOf 'brainstem cancer' http://www.ebi.ac.uk/efo/EFO_1000149 Calcifying Nested Epithelial Stromal Tumor of the Liver 'Calcifying Nested Epithelial Stromal Tumor of the Liver' SubClassOf 'liver cancer' 'Calcifying Nested Epithelial Stromal Tumor of the Liver' SubClassOf 'liver cancer' http://www.ebi.ac.uk/efo/EFO_1000151 Cavernous Hemangioma 'Cavernous Hemangioma' SubClassOf 'vascular hemostatic disease' 'Cavernous Hemangioma' SubClassOf 'hemangioma' 'Cavernous Hemangioma' SubClassOf 'vascular hemostatic disease' 'Cavernous Hemangioma' SubClassOf 'hemangioma' http://www.ebi.ac.uk/efo/EFO_1000158 Central Nervous System Neoplasm 'Central Nervous System Neoplasm' SubClassOf 'central nervous system disease' 'Central Nervous System Neoplasm' SubClassOf 'nervous system neoplasm' 'Central Nervous System Neoplasm' SubClassOf 'central nervous system disease' 'Central Nervous System Neoplasm' SubClassOf 'nervous system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000159 Cerebellar Liponeurocytoma 'Cerebellar Liponeurocytoma' SubClassOf 'cerebellar neoplasm' 'Cerebellar Liponeurocytoma' SubClassOf 'cerebellar neoplasm' http://www.ebi.ac.uk/efo/EFO_1000156 Central Nervous System Anaplastic Large Cell Lymphoma 'Central Nervous System Anaplastic Large Cell Lymphoma' SubClassOf 'anaplastic large cell lymphoma' 'Central Nervous System Anaplastic Large Cell Lymphoma' SubClassOf 'anaplastic large cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000157 Central Nervous System Lymphoma 'Central Nervous System Lymphoma' SubClassOf 'neoplasm of mature B-cells' 'Central Nervous System Lymphoma' SubClassOf 'central nervous system cancer' 'Central Nervous System Lymphoma' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'Central Nervous System Lymphoma' SubClassOf 'primary organ-specific lymphoma' 'Central Nervous System Lymphoma' SubClassOf 'central nervous system hematopoietic neoplasm' 'Central Nervous System Lymphoma' SubClassOf 'neoplasm of mature B-cells' 'Central Nervous System Lymphoma' SubClassOf 'central nervous system cancer' 'Central Nervous System Lymphoma' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'Central Nervous System Lymphoma' SubClassOf 'primary organ-specific lymphoma' 'Central Nervous System Lymphoma' SubClassOf 'central nervous system hematopoietic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000154 Cecum Neuroendocrine Tumor G1 'Cecum Neuroendocrine Tumor G1' SubClassOf 'cecal neoplasm' 'Cecum Neuroendocrine Tumor G1' SubClassOf 'Colon Neuroendocrine Tumor G1' 'Cecum Neuroendocrine Tumor G1' SubClassOf 'cecal neoplasm' 'Cecum Neuroendocrine Tumor G1' SubClassOf 'Colon Neuroendocrine Tumor G1' http://www.ebi.ac.uk/efo/EFO_1000155 Cecum Villous Adenoma 'Cecum Villous Adenoma' SubClassOf 'villous adenoma of colon' 'Cecum Villous Adenoma' SubClassOf 'cecal neoplasm' 'Cecum Villous Adenoma' SubClassOf 'villous adenoma of colon' 'Cecum Villous Adenoma' SubClassOf 'cecal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000152 Cavernous Hemangioma of the Face 'Cavernous Hemangioma of the Face' SubClassOf 'Cavernous Hemangioma' 'Cavernous Hemangioma of the Face' SubClassOf 'Cavernous Hemangioma' http://www.ebi.ac.uk/efo/EFO_1000161 Cervical Adenoid Cystic Carcinoma 'Cervical Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Cervical Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000162 Cervical Adenosquamous Carcinoma 'Cervical Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Cervical Adenosquamous Carcinoma' SubClassOf 'cervical adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000169 Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant 'Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant' SubClassOf 'cervical mucinous adenocarcinoma' 'Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant' SubClassOf 'cervical mucinous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000167 Cervical Large Cell Neuroendocrine Carcinoma 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'Cervical Large Cell Neuroendocrine Carcinoma' SubClassOf 'cervical carcinoma' http://www.ebi.ac.uk/efo/EFO_1000168 Cervical Metaplasia 'Cervical Metaplasia' SubClassOf 'cervix disorder' 'Cervical Metaplasia' SubClassOf 'cervix disorder' http://www.ebi.ac.uk/efo/EFO_1000166 Cervical Intraepithelial Neoplasia Grade 2/3 'Cervical Intraepithelial Neoplasia Grade 2/3' SubClassOf 'cervical intraepithelial neoplasia' 'Cervical Intraepithelial Neoplasia Grade 2/3' SubClassOf 'cervical intraepithelial neoplasia' http://www.ebi.ac.uk/efo/EFO_1000163 Cervical Clear Cell Adenocarcinoma 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Clear Cell Adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000164 Cervical Endometrioid Adenocarcinoma 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'Cervical Endometrioid Adenocarcinoma' SubClassOf 'cervical adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000514 germ cell tumor 'germ cell tumor' SubClassOf 'neoplasm' 'germ cell tumor' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000519 glioblastoma multiforme 'glioblastoma multiforme' SubClassOf 'high grade astrocytic tumor' 'glioblastoma multiforme' SubClassOf 'high grade astrocytic tumor' http://www.ebi.ac.uk/efo/EFO_1000172 cervical squamous cell carcinoma 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'cervical carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'cervical carcinoma' http://www.ebi.ac.uk/efo/EFO_1000173 Cervical Wilms Tumor 'Cervical Wilms Tumor' SubClassOf 'cervical cancer' 'Cervical Wilms Tumor' SubClassOf 'Wilms tumor' 'Cervical Wilms Tumor' SubClassOf 'cervical cancer' 'Cervical Wilms Tumor' SubClassOf 'Wilms tumor' http://www.ebi.ac.uk/efo/EFO_1000170 Cervical Mucinous Adenocarcinoma, Villoglandular Variant 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf 'cervical mucinous adenocarcinoma' 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf 'villous adenocarcinoma' 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf 'cervical mucinous adenocarcinoma' 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' SubClassOf 'villous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000171 Cervical Small Cell Carcinoma 'Cervical Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Cervical Small Cell Carcinoma' SubClassOf 'cervical carcinoma' 'Cervical Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Cervical Small Cell Carcinoma' SubClassOf 'cervical carcinoma' http://www.ebi.ac.uk/efo/EFO_1000179 Chronic Neutrophilic Leukemia 'Chronic Neutrophilic Leukemia' SubClassOf 'chronic myeloproliferative disorder' 'Chronic Neutrophilic Leukemia' SubClassOf 'chronic leukemia' 'Chronic Neutrophilic Leukemia' SubClassOf 'chronic myeloproliferative disorder' 'Chronic Neutrophilic Leukemia' SubClassOf 'chronic leukemia' http://www.ebi.ac.uk/efo/EFO_0000500 ganglioneuroma 'ganglioneuroma' SubClassOf 'Neuroblastic Tumor' 'ganglioneuroma' SubClassOf 'autonomic nervous system neoplasm' 'ganglioneuroma' SubClassOf 'mixed neuronal-glial tumor' 'ganglioneuroma' SubClassOf 'Neuroblastic Tumor' 'ganglioneuroma' SubClassOf 'autonomic nervous system neoplasm' 'ganglioneuroma' SubClassOf 'mixed neuronal-glial tumor' http://www.ebi.ac.uk/efo/EFO_1000174 Chondroid Chordoma 'Chondroid Chordoma' SubClassOf 'chordoma' 'Chondroid Chordoma' SubClassOf 'chordoma' http://www.ebi.ac.uk/efo/EFO_0000501 follicular thyroid carcinoma 'follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000175 Chondroid Hamartoma 'Chondroid Hamartoma' SubClassOf 'hamartoma' 'Chondroid Hamartoma' SubClassOf 'hamartoma' http://www.ebi.ac.uk/efo/EFO_0000502 ganglioneuroblastoma 'ganglioneuroblastoma' SubClassOf 'Neuroblastic Tumor' 'ganglioneuroblastoma' SubClassOf 'Neuroblastic Tumor' http://www.ebi.ac.uk/efo/EFO_0000503 gastric adenocarcinoma 'gastric adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastric adenocarcinoma' SubClassOf 'gastric carcinoma' 'gastric adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastric adenocarcinoma' SubClassOf 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_0000504 gastric intestinal type adenocarcinoma 'gastric intestinal type adenocarcinoma' SubClassOf 'Intestinal Type Adenocarcinoma' 'gastric intestinal type adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'gastric intestinal type adenocarcinoma' SubClassOf 'Intestinal Type Adenocarcinoma' 'gastric intestinal type adenocarcinoma' SubClassOf 'gastric adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000536 hyperplasia 'hyperplasia' SubClassOf 'cancer or benign tumor' 'hyperplasia' SubClassOf 'cancer or benign tumor' http://www.ebi.ac.uk/efo/EFO_0000537 hypertension 'hypertension' SubClassOf 'arterial disorder' 'hypertension' SubClassOf 'arterial disorder' http://www.ebi.ac.uk/efo/EFO_0000538 hypertrophic cardiomyopathy 'hypertrophic cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' 'hypertrophic cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0000552 invasive breast ductal and lobular carcinoma 'invasive breast ductal and lobular carcinoma' SubClassOf 'Mixed Lobular and Ductal Breast Carcinoma' 'invasive breast ductal and lobular carcinoma' SubClassOf 'invasive breast ductal carcinoma' 'invasive breast ductal and lobular carcinoma' SubClassOf 'Mixed Lobular and Ductal Breast Carcinoma' 'invasive breast ductal and lobular carcinoma' SubClassOf 'invasive breast ductal carcinoma' http://www.ebi.ac.uk/efo/EFO_0000553 invasive lobular carcinoma 'invasive lobular carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'invasive lobular carcinoma' SubClassOf 'lobular breast carcinoma' 'invasive lobular carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'invasive lobular carcinoma' SubClassOf 'lobular breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0000555 irritable bowel syndrome 'irritable bowel syndrome' SubClassOf 'intestinal disease' 'irritable bowel syndrome' SubClassOf 'syndromic disease' 'irritable bowel syndrome' SubClassOf 'intestinal disease' 'irritable bowel syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0000557 juvenile dermatomyositis 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' 'juvenile dermatomyositis' SubClassOf 'juvenile idiopathic inflammatory myopathy' 'juvenile dermatomyositis' SubClassOf 'juvenile idiopathic inflammatory myopathy' 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' http://www.ebi.ac.uk/efo/EFO_0000558 Kaposi's sarcoma 'Kaposi's sarcoma' SubClassOf 'human herpesvirus 8-related tumor' 'Kaposi's sarcoma' SubClassOf 'human herpesvirus 8-related tumor' http://www.ebi.ac.uk/efo/EFO_0000559 keratinizing squamous cell carcinoma 'keratinizing squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'keratinizing squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1' SubClassOf 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1' SubClassOf 'hereditary peripheral neuropathy' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1' SubClassOf 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0011803 hereditary spastic paraplegia 7 'hereditary spastic paraplegia 7' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 7' SubClassOf 'hereditary ataxia' 'hereditary spastic paraplegia 7' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 7' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0011804 autoimmune lymphoproliferative syndrome type 2B 'autoimmune lymphoproliferative syndrome type 2B' SubClassOf 'autoimmune lymphoproliferative syndrome' 'autoimmune lymphoproliferative syndrome type 2B' SubClassOf 'autoimmune lymphoproliferative syndrome' http://www.ebi.ac.uk/efo/EFO_0000545 infertility 'infertility' SubClassOf 'reproductive system disease' 'infertility' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0000549 insulinoma 'insulinoma' SubClassOf 'pancreatic neuroendocrine tumor' 'insulinoma' SubClassOf 'pancreatic neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0011818 isolated focal cortical dysplasia type II 'isolated focal cortical dysplasia type II' SubClassOf 'isolated focal cortical dysplasia' 'isolated focal cortical dysplasia type II' SubClassOf 'isolated focal cortical dysplasia' http://purl.obolibrary.org/obo/MONDO_0011819 spinocerebellar ataxia type 19/22 'spinocerebellar ataxia type 19/22' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 19/22' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://www.ebi.ac.uk/efo/EFO_0000571 lung adenocarcinoma 'lung adenocarcinoma' SubClassOf 'non-small cell lung carcinoma' 'lung adenocarcinoma' SubClassOf 'adenocarcinoma' 'lung adenocarcinoma' SubClassOf 'non-small cell lung carcinoma' 'lung adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0011812 Duane-radial ray syndrome 'Duane-radial ray syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Duane-radial ray syndrome' SubClassOf 'autosomal dominant disease' 'Duane-radial ray syndrome' SubClassOf 'syndromic disease' 'Duane-radial ray syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Duane-radial ray syndrome' SubClassOf 'autosomal dominant disease' 'Duane-radial ray syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011810 horizontal gaze palsy with progressive scoliosis 'horizontal gaze palsy with progressive scoliosis' SubClassOf 'disorder of development or morphogenesis' 'horizontal gaze palsy with progressive scoliosis' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_0000574 lymphoma 'lymphoma' SubClassOf 'lymphoid neoplasm' 'lymphoma' SubClassOf 'lymphoid hemopathy' 'lymphoma' SubClassOf 'lymphoid neoplasm' 'lymphoma' SubClassOf 'lymphoid hemopathy' http://purl.obolibrary.org/obo/MONDO_0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome 'autosomal recessive cerebellar ataxia-saccadic intrusion syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' 'autosomal recessive cerebellar ataxia-saccadic intrusion syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0011817 coronary heart disease, susceptibility to, 1 'coronary heart disease, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'coronary heart disease, susceptibility to, 1' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary heart disease, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'coronary heart disease, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0011814 Smith-McCort dysplasia 1 'Smith-McCort dysplasia 1' SubClassOf 'Smith-McCort dysplasia' 'Smith-McCort dysplasia 1' SubClassOf 'Smith-McCort dysplasia' http://purl.obolibrary.org/obo/MONDO_0011829 coenzyme Q10 deficiency, primary, 1 'coenzyme Q10 deficiency, primary, 1' SubClassOf 'coenzyme Q10 deficiency' 'coenzyme Q10 deficiency, primary, 1' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0011823 developmental malformations-deafness-dystonia syndrome 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'inherited dystonia' 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0011821 Meckel syndrome, type 3 'Meckel syndrome, type 3' SubClassOf 'Meckel syndrome' 'Meckel syndrome, type 3' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Meckel syndrome, type 3' SubClassOf 'Meckel syndrome' 'Meckel syndrome, type 3' SubClassOf 'polydactyly-syndactyly-triphalangism' http://www.ebi.ac.uk/efo/EFO_0000563 large cell neuroendocrine carcinoma 'large cell neuroendocrine carcinoma' EquivalentTo 'neuroendocrine carcinoma' and 'large cell carcinoma' 'large cell neuroendocrine carcinoma' SubClassOf 'large cell carcinoma' 'large cell neuroendocrine carcinoma' SubClassOf 'neuroendocrine carcinoma' 'large cell neuroendocrine carcinoma' EquivalentTo 'neuroendocrine carcinoma' and 'large cell carcinoma' 'large cell neuroendocrine carcinoma' SubClassOf 'large cell carcinoma' 'large cell neuroendocrine carcinoma' SubClassOf 'neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0011822 Bartter disease type 3 'Bartter disease type 3' SubClassOf 'Bartter syndrome' 'Bartter disease type 3' SubClassOf 'Bartter syndrome' http://www.ebi.ac.uk/efo/EFO_0000564 leiomyosarcoma 'leiomyosarcoma' SubClassOf 'Epstein-Barr virus-associated mesenchymal tumor' 'leiomyosarcoma' SubClassOf 'smooth muscle cancer' 'leiomyosarcoma' SubClassOf 'soft tissue sarcoma' 'leiomyosarcoma' SubClassOf 'Epstein-Barr virus-associated mesenchymal tumor' 'leiomyosarcoma' SubClassOf 'smooth muscle cancer' 'leiomyosarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0000565 leukemia 'leukemia' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'leukemia' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0000569 liposarcoma 'liposarcoma' SubClassOf 'soft tissue sarcoma' 'liposarcoma' SubClassOf 'lipomatous cancer' 'liposarcoma' SubClassOf 'soft tissue sarcoma' 'liposarcoma' SubClassOf 'lipomatous cancer' http://purl.obolibrary.org/obo/MONDO_0011834 spinocerebellar ataxia type 18 'spinocerebellar ataxia type 18' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 18' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011835 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'ataxia neuropathy spectrum' 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'inborn mitochondrial myopathy' 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'ataxia neuropathy spectrum' 'sensory ataxic neuropathy, dysarthria, and ophthalmoparesis' SubClassOf 'inborn mitochondrial myopathy' http://www.ebi.ac.uk/efo/EFO_0000595 monophasic synovial sarcoma 'monophasic synovial sarcoma' SubClassOf 'synovial sarcoma' 'monophasic synovial sarcoma' SubClassOf 'synovial sarcoma' http://purl.obolibrary.org/obo/MONDO_0011833 spinocerebellar ataxia type 21 'spinocerebellar ataxia type 21' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 21' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011838 Bothnia retinal dystrophy 'Bothnia retinal dystrophy' SubClassOf 'RLBP1-related retinopathy' 'Bothnia retinal dystrophy' SubClassOf 'RLBP1-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0011839 Newfoundland cone-rod dystrophy 'Newfoundland cone-rod dystrophy' SubClassOf 'cone-rod dystrophy' 'Newfoundland cone-rod dystrophy' SubClassOf 'RLBP1-related retinopathy' 'Newfoundland cone-rod dystrophy' SubClassOf 'cone-rod dystrophy' 'Newfoundland cone-rod dystrophy' SubClassOf 'RLBP1-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 'vitamin K-dependent clotting factors, combined deficiency of, type 2' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' 'vitamin K-dependent clotting factors, combined deficiency of, type 2' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/MONDO_0011830 lissencephaly due to LIS1 mutation 'lissencephaly due to LIS1 mutation' SubClassOf 'classic lissencephaly' 'lissencephaly due to LIS1 mutation' SubClassOf 'classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0011831 arrhythmogenic right ventricular dysplasia 8 'arrhythmogenic right ventricular dysplasia 8' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 8' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0011843 hypertrophic cardiomyopathy 25 'hypertrophic cardiomyopathy 25' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 25' SubClassOf 'familial hypertrophic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0000584 infectious meningitis 'infectious meningitis' SubClassOf 'meningitis' 'infectious meningitis' SubClassOf 'meningitis' http://www.ebi.ac.uk/efo/EFO_0000588 mesothelioma 'mesothelioma' SubClassOf 'mesothelial neoplasm' 'mesothelioma' SubClassOf 'mesothelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0011847 migraine without aura, susceptibility to, 4 'migraine without aura, susceptibility to, 4' SubClassOf 'migraine with or without aura, susceptibility to' 'migraine without aura, susceptibility to, 4' SubClassOf 'predisposes towards' some 'migraine without aura' 'migraine without aura, susceptibility to, 4' SubClassOf 'migraine with or without aura, susceptibility to' 'migraine without aura, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'migraine without aura' http://purl.obolibrary.org/obo/MONDO_0011841 biotin-responsive basal ganglia disease 'biotin-responsive basal ganglia disease' SubClassOf 'basal ganglia disease' 'biotin-responsive basal ganglia disease' SubClassOf 'disease responds to' some 'biotin' 'biotin-responsive basal ganglia disease' SubClassOf 'thiamine-responsive dysfunction syndrome' 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and ('disease responds to' some 'biotin') 'biotin-responsive basal ganglia disease' SubClassOf 'toxic encephalopathy' 'biotin-responsive basal ganglia disease' SubClassOf 'basal ganglia disease' 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'biotin') 'biotin-responsive basal ganglia disease' SubClassOf 'thiamine-responsive dysfunction syndrome' 'biotin-responsive basal ganglia disease' SubClassOf 'toxic encephalopathy' 'biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'biotin' http://purl.obolibrary.org/obo/MONDO_0011842 GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 'GRN-related frontotemporal lobar degeneration with Tdp43 inclusions' SubClassOf 'frontotemporal dementia' 'GRN-related frontotemporal lobar degeneration with Tdp43 inclusions' SubClassOf 'frontotemporal dementia' http://purl.obolibrary.org/obo/MONDO_0011840 dilated cardiomyopathy 1M 'dilated cardiomyopathy 1M' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1M' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome 'spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011857 atrial fibrillation, familial, 3 'atrial fibrillation, familial, 3' SubClassOf 'familial atrial fibrillation' 'atrial fibrillation, familial, 3' SubClassOf 'familial atrial fibrillation' http://www.ebi.ac.uk/efo/EFO_0000495 fetal growth restriction 'fetal growth restriction' SubClassOf 'placenta disease' 'fetal growth restriction' SubClassOf 'placenta disease' http://purl.obolibrary.org/obo/MONDO_0011855 granular corneal dystrophy type II 'granular corneal dystrophy type II' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'granular corneal dystrophy type II' SubClassOf 'stromal corneal dystrophy' 'granular corneal dystrophy type II' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'granular corneal dystrophy type II' SubClassOf 'stromal corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_0000497 fibromatosis 'fibromatosis' SubClassOf 'Fibroblastic Neoplasm' 'fibromatosis' SubClassOf 'Fibroblastic Neoplasm' http://www.ebi.ac.uk/efo/EFO_0000499 follicular thyroid adenoma 'follicular thyroid adenoma' SubClassOf 'adenoma' 'follicular thyroid adenoma' SubClassOf 'Benign Thyroid Gland Neoplasm' 'follicular thyroid adenoma' SubClassOf 'adenoma' 'follicular thyroid adenoma' SubClassOf 'Benign Thyroid Gland Neoplasm' http://purl.obolibrary.org/obo/MONDO_0011852 nonsyndromic congenital nail disorder 8 'nonsyndromic congenital nail disorder 8' SubClassOf 'inherited isolated nail anomaly' 'nonsyndromic congenital nail disorder 8' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0011853 Camptosynpolydactyly, complex 'Camptosynpolydactyly, complex' SubClassOf 'genetic disorder' 'Camptosynpolydactyly, complex' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011868 lethal congenital contracture syndrome 2 'lethal congenital contracture syndrome 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 2' SubClassOf 'lethal congenital contracture syndrome' 'lethal congenital contracture syndrome 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 2' SubClassOf 'lethal congenital contracture syndrome' http://purl.obolibrary.org/obo/MONDO_0011869 epidermolysis bullosa simplex superficialis 'epidermolysis bullosa simplex superficialis' SubClassOf 'suprabasal epidermolysis bullosa simplex' 'epidermolysis bullosa simplex superficialis' SubClassOf 'suprabasal epidermolysis bullosa simplex' http://www.ebi.ac.uk/efo/EFO_0000489 extra-adrenal sympathetic paraganglioma 'extra-adrenal sympathetic paraganglioma' SubClassOf 'disease disrupts' some 'catecholamine secretion' 'extra-adrenal sympathetic paraganglioma' SubClassOf 'sympathetic paraganglioma' 'extra-adrenal sympathetic paraganglioma' SubClassOf 'disease disrupts' some 'catecholamine secretion' 'extra-adrenal sympathetic paraganglioma' SubClassOf 'sympathetic paraganglioma' http://purl.obolibrary.org/obo/MONDO_0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 'cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome' SubClassOf 'syndromic disease' 'cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011862 hereditary spastic paraplegia 24 'hereditary spastic paraplegia 24' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 24' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0021202 allergic otitis media 'allergic otitis media' SubClassOf 'Otitis media' 'allergic otitis media' SubClassOf 'Otitis media' http://purl.obolibrary.org/obo/MONDO_0011879 neuronopathy, distal hereditary motor, type 7B 'neuronopathy, distal hereditary motor, type 7B' SubClassOf 'distal hereditary motor neuropathy type 7' 'neuronopathy, distal hereditary motor, type 7B' SubClassOf 'distal hereditary motor neuropathy type 7' http://purl.obolibrary.org/obo/MONDO_0011871 Niemann-Pick disease type B 'Niemann-Pick disease type B' SubClassOf 'acid sphingomyelinase deficiency' 'Niemann-Pick disease type B' SubClassOf 'hereditary peripheral neuropathy' 'Niemann-Pick disease type B' SubClassOf 'acid sphingomyelinase deficiency' 'Niemann-Pick disease type B' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0011874 neonatal ichthyosis-sclerosing cholangitis syndrome 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'inherited ichthyosis' 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'sclerosing cholangitis' 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'syndromic disease' 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'inherited ichthyosis' 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'sclerosing cholangitis' 'neonatal ichthyosis-sclerosing cholangitis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011875 epilepsy, idiopathic generalized, susceptibility to, 11 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0011872 Griscelli syndrome type 2 'Griscelli syndrome type 2' SubClassOf 'constitutional neutropenia' 'Griscelli syndrome type 2' SubClassOf 'Griscelli syndrome' 'Griscelli syndrome type 2' SubClassOf 'constitutional neutropenia' 'Griscelli syndrome type 2' SubClassOf 'Griscelli syndrome' http://purl.obolibrary.org/obo/MONDO_0021204 chronic otitis media 'chronic otitis media' SubClassOf 'Otitis media' 'chronic otitis media' SubClassOf 'Otitis media' http://purl.obolibrary.org/obo/MONDO_0021205 disorder of ear 'disorder of ear' SubClassOf 'otorhinolaryngologic disease' 'disorder of ear' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0021206 chronic non-suppurative otitis media 'chronic non-suppurative otitis media' SubClassOf 'non-suppurative otitis media' 'chronic non-suppurative otitis media' SubClassOf 'non-suppurative otitis media' http://purl.obolibrary.org/obo/MONDO_0021208 endocrine alopecia 'endocrine alopecia' SubClassOf 'alopecia' 'endocrine alopecia' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0011889 Charcot-Marie-Tooth disease type 2I 'Charcot-Marie-Tooth disease type 2I' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2I' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011888 immunodeficiency 67 'immunodeficiency 67' SubClassOf 'immunodeficiency disease' 'immunodeficiency 67' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0011881 keratosis palmoplantaris striata 3 'keratosis palmoplantaris striata 3' SubClassOf 'striate palmoplantar keratoderma' 'keratosis palmoplantaris striata 3' SubClassOf 'striate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome 'skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'syndromic disease' 'skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'syndromic disease' 'skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0011886 torsion dystonia 13 'torsion dystonia 13' SubClassOf 'focal, segmental or multifocal dystonia' 'torsion dystonia 13' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0011883 Curly hair - acral keratoderma - caries syndrome 'Curly hair - acral keratoderma - caries syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'Curly hair - acral keratoderma - caries syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Curly hair - acral keratoderma - caries syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'Curly hair - acral keratoderma - caries syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011884 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 'hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'focal palmoplantar keratoderma' 'hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0021221 vestibulocochlear nerve neoplasm 'vestibulocochlear nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'vestibulocochlear nerve neoplasm' SubClassOf 'cranial nerve neoplasm' http://purl.obolibrary.org/obo/MONDO_0021222 lacrimal gland neoplasm 'lacrimal gland neoplasm' SubClassOf 'eye neoplasm' 'lacrimal gland neoplasm' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/MONDO_0021224 iris neoplasm 'iris neoplasm' SubClassOf 'uvea neoplasm' 'iris neoplasm' SubClassOf 'uvea neoplasm' http://purl.obolibrary.org/obo/MONDO_0021225 uvea neoplasm 'uvea neoplasm' SubClassOf 'eye neoplasm' 'uvea neoplasm' SubClassOf 'uveal disorder' 'uvea neoplasm' SubClassOf 'eye neoplasm' 'uvea neoplasm' SubClassOf 'uveal disorder' http://purl.obolibrary.org/obo/MONDO_0011899 Noonan syndrome-like disorder with loose anagen hair 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011892 epilepsy, idiopathic generalized, susceptibility to, 9 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf 'inherited disease susceptibility' 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 9' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0011890 Charcot-Marie-Tooth disease type 1D 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1D' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/MONDO_0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'leukodystrophy' 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0011894 Charcot-Marie-Tooth disease type 2E 'Charcot-Marie-Tooth disease type 2E' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2E' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011895 idiopathic hypereosinophilic syndrome 'idiopathic hypereosinophilic syndrome' SubClassOf 'Hypereosinophilic syndrome' 'idiopathic hypereosinophilic syndrome' SubClassOf 'Hypereosinophilic syndrome' http://purl.obolibrary.org/obo/MONDO_0021229 ciliary body neoplasm 'ciliary body neoplasm' SubClassOf 'ciliary body disorder' 'ciliary body neoplasm' SubClassOf 'ciliary body disorder' http://purl.obolibrary.org/obo/MONDO_0021218 placenta neoplasm 'placenta neoplasm' SubClassOf 'placenta disease' 'placenta neoplasm' SubClassOf 'placenta disease' http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm 'nervous system neoplasm' SubClassOf 'nervous system disease' 'nervous system neoplasm' SubClassOf 'neoplasm' 'nervous system neoplasm' SubClassOf 'nervous system disease' 'nervous system neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021249 lip neoplasm 'lip neoplasm' SubClassOf 'lip disorder' 'lip neoplasm' SubClassOf 'head and neck neoplasia' 'lip neoplasm' SubClassOf 'lip disorder' 'lip neoplasm' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm 'uterine cervix neoplasm' SubClassOf 'uterine neoplasm' 'uterine cervix neoplasm' SubClassOf 'uterine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021232 pineal body neoplasm 'pineal body neoplasm' SubClassOf 'brain neoplasm' 'pineal body neoplasm' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0021233 ear neoplasm 'ear neoplasm' SubClassOf 'disorder of ear' 'ear neoplasm' SubClassOf 'head and neck neoplasia' 'ear neoplasm' SubClassOf 'disorder of ear' 'ear neoplasm' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0021235 external ear neoplasm 'external ear neoplasm' SubClassOf 'ear neoplasm' 'external ear neoplasm' SubClassOf 'ear neoplasm' http://purl.obolibrary.org/obo/MONDO_0021237 adrenal medulla neoplasm 'adrenal medulla neoplasm' SubClassOf 'adrenal gland neoplasm' 'adrenal medulla neoplasm' SubClassOf 'adrenal gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0021238 cornea neoplasm 'cornea neoplasm' SubClassOf 'eye neoplasm' 'cornea neoplasm' SubClassOf 'corneal disease' 'cornea neoplasm' SubClassOf 'eye neoplasm' 'cornea neoplasm' SubClassOf 'corneal disease' http://www.ebi.ac.uk/efo/EFO_1000062 lactose intolerance 'lactose intolerance' SubClassOf 'nutritional disorder' 'lactose intolerance' SubClassOf 'inborn carbohydrate metabolic disorder' 'lactose intolerance' SubClassOf 'nutritional disorder' 'lactose intolerance' SubClassOf 'inborn carbohydrate metabolic disorder' http://www.ebi.ac.uk/efo/EFO_1000063 lactose intolerance adult type 'lactose intolerance adult type' SubClassOf 'lactose intolerance' 'lactose intolerance adult type' SubClassOf 'lactose intolerance' http://www.ebi.ac.uk/efo/EFO_1000060 intestinal disaccharide deficiency and disaccharide malabsorption 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'malabsorption syndrome' 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'disease has location' some 'digestive system' 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'malabsorption syndrome' 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf 'disease has location' some 'digestive system' http://www.ebi.ac.uk/efo/EFO_1000068 Acute Leukemia 'Acute Leukemia' SubClassOf 'leukemia' 'Acute Leukemia' SubClassOf 'leukemia' http://www.ebi.ac.uk/efo/EFO_1000066 ACTH-Producing Pituitary Gland Adenoma 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'ACTH-producing pituitary gland neoplasm' 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'Pituitary Gland Adenoma' 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'ACTH-producing pituitary gland neoplasm' 'ACTH-Producing Pituitary Gland Adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_1000065 Acinar Prostate Mucinous Adenocarcinoma 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.ebi.ac.uk/efo/EFO_1000073 Adenosquamous Carcinoma 'Adenosquamous Carcinoma' SubClassOf 'squamous cell carcinoma' 'Adenosquamous Carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0021251 endometrium neoplasm 'endometrium neoplasm' SubClassOf 'uterine neoplasm' 'endometrium neoplasm' SubClassOf 'uterine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000074 Adrenal Gland Myelolipoma 'Adrenal Gland Myelolipoma' SubClassOf 'benign neoplasm of adrenal gland' 'Adrenal Gland Myelolipoma' SubClassOf 'benign neoplasm of adrenal gland' http://www.ebi.ac.uk/efo/EFO_1000071 Adenoid Cystic Breast Carcinoma 'Adenoid Cystic Breast Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Adenoid Cystic Breast Carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'Adenoid Cystic Breast Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Adenoid Cystic Breast Carcinoma' SubClassOf 'Invasive Breast Carcinoma' http://purl.obolibrary.org/obo/MONDO_0021254 corpus uteri neoplasm 'corpus uteri neoplasm' SubClassOf 'uterine neoplasm' 'corpus uteri neoplasm' SubClassOf 'uterine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000072 Adenomatoid Odontogenic Tumor 'Adenomatoid Odontogenic Tumor' SubClassOf 'benign neoplasm of oral cavity' 'Adenomatoid Odontogenic Tumor' SubClassOf 'benign neoplasm of oral cavity' http://www.ebi.ac.uk/efo/EFO_1000070 Adenofibroma 'Adenofibroma' SubClassOf 'benign female reproductive system neoplasm' 'Adenofibroma' SubClassOf 'fibroma' 'Adenofibroma' SubClassOf 'benign female reproductive system neoplasm' 'Adenofibroma' SubClassOf 'fibroma' http://purl.obolibrary.org/obo/MONDO_0021258 choroid neoplasm 'choroid neoplasm' SubClassOf 'optic choroid disorder' 'choroid neoplasm' SubClassOf 'uvea neoplasm' 'choroid neoplasm' SubClassOf 'optic choroid disorder' 'choroid neoplasm' SubClassOf 'uvea neoplasm' http://www.ebi.ac.uk/efo/EFO_1000079 Ampulla of Vater Carcinoma 'Ampulla of Vater Carcinoma' SubClassOf 'carcinoma of duodenum' 'Ampulla of Vater Carcinoma' SubClassOf 'ampulla of vater cancer' 'Ampulla of Vater Carcinoma' SubClassOf 'carcinoma of duodenum' 'Ampulla of Vater Carcinoma' SubClassOf 'ampulla of vater cancer' http://www.ebi.ac.uk/efo/EFO_1000077 AIDS-Related Primary Central Nervous System Lymphoma 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'lymphoma' 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_1000078 Ameloblastic Carcinoma 'Ameloblastic Carcinoma' SubClassOf 'head and neck carcinoma' 'Ameloblastic Carcinoma' SubClassOf 'odontogenic neoplasm' 'Ameloblastic Carcinoma' SubClassOf 'head and neck carcinoma' 'Ameloblastic Carcinoma' SubClassOf 'odontogenic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000075 Adrenal Gland Neuroblastoma 'Adrenal Gland Neuroblastoma' EquivalentTo 'neuroblastoma' and ('disease has location' some 'adrenal gland') 'Adrenal Gland Neuroblastoma' SubClassOf 'adrenal medulla cancer' 'Adrenal Gland Neuroblastoma' EquivalentTo 'neuroblastoma' and ('disease has location' some 'adrenal gland') 'Adrenal Gland Neuroblastoma' SubClassOf 'adrenal medulla cancer' http://purl.obolibrary.org/obo/MONDO_0021250 tonsil neoplasm 'tonsil neoplasm' SubClassOf 'pharynx neoplasm' 'tonsil neoplasm' SubClassOf 'pharynx neoplasm' http://www.ebi.ac.uk/efo/EFO_1000076 Adrenal Medullary Hyperplasia 'Adrenal Medullary Hyperplasia' SubClassOf 'hyperplasia' 'Adrenal Medullary Hyperplasia' SubClassOf 'hyperplasia' http://purl.obolibrary.org/obo/MONDO_0021259 prostate neoplasm 'prostate neoplasm' SubClassOf 'prostate disease' 'prostate neoplasm' SubClassOf 'reproductive system neoplasm' 'prostate neoplasm' SubClassOf 'prostate disease' 'prostate neoplasm' SubClassOf 'reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021284 carcinoma in situ of ureter 'carcinoma in situ of ureter' SubClassOf 'Ureter Carcinoma' 'carcinoma in situ of ureter' SubClassOf 'in situ carcinoma' 'carcinoma in situ of ureter' SubClassOf 'Ureter Carcinoma' 'carcinoma in situ of ureter' SubClassOf 'in situ carcinoma' http://www.ebi.ac.uk/efo/EFO_1000084 Angioleiomyoma 'Angioleiomyoma' SubClassOf 'benign perivascular tumor' 'Angioleiomyoma' SubClassOf 'benign perivascular tumor' http://www.ebi.ac.uk/efo/EFO_1000085 Angiolipoma 'Angiolipoma' SubClassOf 'lipoma' 'Angiolipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0021285 carcinoma in situ of urethra 'carcinoma in situ of urethra' SubClassOf 'carcinoma of urethra' 'carcinoma in situ of urethra' SubClassOf 'in situ carcinoma' 'carcinoma in situ of urethra' SubClassOf 'carcinoma of urethra' 'carcinoma in situ of urethra' SubClassOf 'in situ carcinoma' http://www.ebi.ac.uk/efo/EFO_1000083 Anaplastic Large Cell Lymphoma, ALK-Negative 'Anaplastic Large Cell Lymphoma, ALK-Negative' SubClassOf 'anaplastic large cell lymphoma' 'Anaplastic Large Cell Lymphoma, ALK-Negative' SubClassOf 'anaplastic large cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0021288 carcinoma in situ of hypopharynx 'carcinoma in situ of hypopharynx' SubClassOf 'pharynx carcinoma in situ' 'carcinoma in situ of hypopharynx' SubClassOf 'hypopharyngeal carcinoma' 'carcinoma in situ of hypopharynx' SubClassOf 'pharynx carcinoma in situ' 'carcinoma in situ of hypopharynx' SubClassOf 'hypopharyngeal carcinoma' http://www.ebi.ac.uk/efo/EFO_1000080 Anal Melanoma 'Anal Melanoma' SubClassOf 'anus cancer' 'Anal Melanoma' SubClassOf 'anus cancer' http://www.ebi.ac.uk/efo/EFO_1000081 Anal Squamous Cell Carcinoma 'Anal Squamous Cell Carcinoma' SubClassOf 'anal carcinoma' 'Anal Squamous Cell Carcinoma' SubClassOf 'anal carcinoma' http://purl.obolibrary.org/obo/MONDO_0021289 carcinoma in situ of cecum 'carcinoma in situ of cecum' SubClassOf 'cecum carcinoma' 'carcinoma in situ of cecum' SubClassOf 'cecum carcinoma' http://www.ebi.ac.uk/efo/EFO_1000088 Appendix Adenocarcinoma 'Appendix Adenocarcinoma' SubClassOf 'appendix carcinoma' 'Appendix Adenocarcinoma' SubClassOf 'appendix carcinoma' http://purl.obolibrary.org/obo/MONDO_0021280 mucoepidermoid carcinoma of parotid gland 'mucoepidermoid carcinoma of parotid gland' SubClassOf 'Parotid Gland Carcinoma' 'mucoepidermoid carcinoma of parotid gland' SubClassOf 'Major Salivary Gland Mucoepidermoid Carcinoma' 'mucoepidermoid carcinoma of parotid gland' SubClassOf 'Parotid Gland Carcinoma' 'mucoepidermoid carcinoma of parotid gland' SubClassOf 'Major Salivary Gland Mucoepidermoid Carcinoma' http://purl.obolibrary.org/obo/MONDO_0021281 cavernous hemangioma of retina 'cavernous hemangioma of retina' SubClassOf 'hemangioma of retina' 'cavernous hemangioma of retina' SubClassOf 'hemangioma of retina' http://purl.obolibrary.org/obo/MONDO_0021283 malignant teratoma of mediastinum 'malignant teratoma of mediastinum' SubClassOf 'Mediastinal Malignant Germ Cell Tumor' 'malignant teratoma of mediastinum' SubClassOf 'Mediastinal Malignant Germ Cell Tumor' http://www.ebi.ac.uk/efo/EFO_1000087 Angiomyxoma 'Angiomyxoma' SubClassOf 'benign soft tissue neoplasm' 'Angiomyxoma' SubClassOf 'connective tissue neoplasm' 'Angiomyxoma' SubClassOf 'benign soft tissue neoplasm' 'Angiomyxoma' SubClassOf 'connective tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0021273 leiomyoma of ciliary body 'leiomyoma of ciliary body' SubClassOf 'leiomyoma' 'leiomyoma of ciliary body' SubClassOf 'benign neoplasm of ciliary body' 'leiomyoma of ciliary body' SubClassOf 'leiomyoma' 'leiomyoma of ciliary body' SubClassOf 'benign neoplasm of ciliary body' http://www.ebi.ac.uk/efo/EFO_1000095 Askin Tumor 'Askin Tumor' SubClassOf 'peripheral primitive neuroectodermal tumor' 'Askin Tumor' SubClassOf 'peripheral primitive neuroectodermal tumor' http://purl.obolibrary.org/obo/MONDO_0021275 papilloma of eyelid 'papilloma of eyelid' SubClassOf 'benign eyelid neoplasm' 'papilloma of eyelid' SubClassOf 'benign eyelid neoplasm' http://www.ebi.ac.uk/efo/EFO_1000093 Appendix Villous Adenoma 'Appendix Villous Adenoma' SubClassOf 'Appendix Adenoma' 'Appendix Villous Adenoma' SubClassOf 'Appendix Adenoma' http://www.ebi.ac.uk/efo/EFO_1000094 Ascending Colon Neuroendocrine Tumor G1 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf 'Colon Neuroendocrine Tumor G1' 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf 'Colon Neuroendocrine Tumor G1' http://www.ebi.ac.uk/efo/EFO_1000091 Appendix Hyperplastic Polyp 'Appendix Hyperplastic Polyp' SubClassOf 'Hyperplastic Polyp' 'Appendix Hyperplastic Polyp' SubClassOf 'Hyperplastic Polyp' http://www.ebi.ac.uk/efo/EFO_1000092 Appendix Neuroendocrine Tumor G1 'Appendix Neuroendocrine Tumor G1' SubClassOf 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' 'Appendix Neuroendocrine Tumor G1' SubClassOf 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' http://purl.obolibrary.org/obo/MONDO_0021279 mucoepidermoid carcinoma of submandibular gland 'mucoepidermoid carcinoma of submandibular gland' SubClassOf 'Major Salivary Gland Mucoepidermoid Carcinoma' 'mucoepidermoid carcinoma of submandibular gland' SubClassOf 'submandibular gland cancer' 'mucoepidermoid carcinoma of submandibular gland' SubClassOf 'Major Salivary Gland Mucoepidermoid Carcinoma' 'mucoepidermoid carcinoma of submandibular gland' SubClassOf 'submandibular gland cancer' http://www.ebi.ac.uk/efo/EFO_1000099 Atypical Lipomatous Tumor 'Atypical Lipomatous Tumor' SubClassOf 'tumor of adipose tissue' 'Atypical Lipomatous Tumor' SubClassOf 'tumor of adipose tissue' http://purl.obolibrary.org/obo/MONDO_0021271 villous adenoma of colon 'villous adenoma of colon' SubClassOf 'colon adenoma' 'villous adenoma of colon' SubClassOf 'villous adenoma' 'villous adenoma of colon' SubClassOf 'colon adenoma' 'villous adenoma of colon' SubClassOf 'villous adenoma' http://www.ebi.ac.uk/efo/EFO_1000097 Atypical Carcinoid Tumor 'Atypical Carcinoid Tumor' SubClassOf 'carcinoid tumor' 'Atypical Carcinoid Tumor' SubClassOf 'carcinoid tumor' http://purl.obolibrary.org/obo/MONDO_0021272 inherited orthostatic hypotension 'inherited orthostatic hypotension' SubClassOf 'primary orthostatic hypotension' 'inherited orthostatic hypotension' SubClassOf 'primary orthostatic hypotension' http://www.ebi.ac.uk/efo/EFO_1000098 Atypical Endometrial Hyperplasia 'Atypical Endometrial Hyperplasia' SubClassOf 'hyperplasia' 'Atypical Endometrial Hyperplasia' SubClassOf 'hyperplasia' http://purl.obolibrary.org/obo/MONDO_0021296 carcinoma in situ of renal pelvis 'carcinoma in situ of renal pelvis' SubClassOf 'renal pelvis carcinoma' 'carcinoma in situ of renal pelvis' SubClassOf 'kidney carcinoma in situ' 'carcinoma in situ of renal pelvis' SubClassOf 'renal pelvis carcinoma' 'carcinoma in situ of renal pelvis' SubClassOf 'kidney carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0021297 carcinoma in situ of nasopharynx 'carcinoma in situ of nasopharynx' SubClassOf 'pharynx carcinoma in situ' 'carcinoma in situ of nasopharynx' SubClassOf 'nasopharyngeal carcinoma' 'carcinoma in situ of nasopharynx' SubClassOf 'pharynx carcinoma in situ' 'carcinoma in situ of nasopharynx' SubClassOf 'nasopharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0021298 carcinoma in situ of oropharynx 'carcinoma in situ of oropharynx' SubClassOf 'pharynx carcinoma in situ' 'carcinoma in situ of oropharynx' SubClassOf 'pharynx carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0021290 carcinoma in situ of appendix 'carcinoma in situ of appendix' SubClassOf 'appendix carcinoma' 'carcinoma in situ of appendix' SubClassOf 'appendix carcinoma' http://purl.obolibrary.org/obo/MONDO_0021294 carcinoma in situ of gastric cardia 'carcinoma in situ of gastric cardia' SubClassOf 'stomach carcinoma in situ' 'carcinoma in situ of gastric cardia' SubClassOf 'gastric cardia carcinoma' 'carcinoma in situ of gastric cardia' SubClassOf 'stomach carcinoma in situ' 'carcinoma in situ of gastric cardia' SubClassOf 'gastric cardia carcinoma' http://purl.obolibrary.org/obo/MONDO_0045072 ectopic hormone secretion syndrome associated with neoplasia 'ectopic hormone secretion syndrome associated with neoplasia' SubClassOf 'neoplastic syndrome' 'ectopic hormone secretion syndrome associated with neoplasia' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0045070 digestive system melanoma 'digestive system melanoma' SubClassOf 'digestive system cancer' 'digestive system melanoma' SubClassOf 'Non-Cutaneous Melanoma' 'digestive system melanoma' SubClassOf 'digestive system cancer' 'digestive system melanoma' SubClassOf 'Non-Cutaneous Melanoma' http://purl.obolibrary.org/obo/MONDO_0021097 intraductal breast papilloma 'intraductal breast papilloma' SubClassOf 'breast benign neoplasm' 'intraductal breast papilloma' SubClassOf 'intraductal papilloma' 'intraductal breast papilloma' SubClassOf 'intraductal papillary breast neoplasm' 'intraductal breast papilloma' SubClassOf 'breast benign neoplasm' 'intraductal breast papilloma' SubClassOf 'intraductal papilloma' 'intraductal breast papilloma' SubClassOf 'intraductal papillary breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0021091 papillary cystadenoma 'papillary cystadenoma' SubClassOf 'cystadenoma' 'papillary cystadenoma' SubClassOf 'Papillary Cystic Neoplasm' 'papillary cystadenoma' EquivalentTo 'cystadenoma' and 'Papillary Cystic Neoplasm' 'papillary cystadenoma' SubClassOf 'cystadenoma' 'papillary cystadenoma' SubClassOf 'Papillary Cystic Neoplasm' 'papillary cystadenoma' EquivalentTo 'cystadenoma' and 'Papillary Cystic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0021092 fallopian tube neoplasm 'fallopian tube neoplasm' SubClassOf 'fallopian tube disease' 'fallopian tube neoplasm' SubClassOf 'female reproductive system neoplasm' 'fallopian tube neoplasm' SubClassOf 'fallopian tube disease' 'fallopian tube neoplasm' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021094 immunodeficiency disease 'immunodeficiency disease' SubClassOf 'immune system disease' 'immunodeficiency disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0021095 parkinsonian disorder 'parkinsonian disorder' SubClassOf 'basal ganglia disease' 'parkinsonian disorder' SubClassOf 'basal ganglia disease' http://purl.obolibrary.org/obo/MONDO_0021096 papillary epithelial neoplasm 'papillary epithelial neoplasm' SubClassOf 'epithelial neoplasm' 'papillary epithelial neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0045054 cancer-related condition 'cancer-related condition' SubClassOf 'cancer or benign tumor' 'cancer-related condition' SubClassOf 'cancer or benign tumor' http://purl.obolibrary.org/obo/MONDO_0045050 nuclear cataract 'nuclear cataract' SubClassOf 'cataract' 'nuclear cataract' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0045059 cribriform carcinoma of breast 'cribriform carcinoma of breast' SubClassOf 'breast carcinoma' 'cribriform carcinoma of breast' SubClassOf 'breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0045056 grade II meningioma 'grade II meningioma' SubClassOf 'meningioma' 'grade II meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0045063 major salivary gland adenoid cystic carcinoma 'major salivary gland adenoid cystic carcinoma' SubClassOf 'salivary gland adenoid cystic carcinoma' 'major salivary gland adenoid cystic carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' 'major salivary gland adenoid cystic carcinoma' SubClassOf 'salivary gland adenoid cystic carcinoma' 'major salivary gland adenoid cystic carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' http://purl.obolibrary.org/obo/MONDO_0045060 intraductal cribriform breast adenocarcinoma 'intraductal cribriform breast adenocarcinoma' SubClassOf 'breast ductal carcinoma in situ' 'intraductal cribriform breast adenocarcinoma' SubClassOf 'breast ductal carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0045068 minor salivary gland adenoid cystic carcinoma 'minor salivary gland adenoid cystic carcinoma' SubClassOf 'salivary gland adenoid cystic carcinoma' 'minor salivary gland adenoid cystic carcinoma' EquivalentTo 'salivary gland adenoid cystic carcinoma' and 'adenoid cystic carcinoma' and ('disease has location' some 'minor salivary gland') 'minor salivary gland adenoid cystic carcinoma' SubClassOf 'salivary gland adenoid cystic carcinoma' 'minor salivary gland adenoid cystic carcinoma' EquivalentTo 'salivary gland adenoid cystic carcinoma' and 'adenoid cystic carcinoma' and ('disease has location' some 'minor salivary gland') http://purl.obolibrary.org/obo/MONDO_0045069 minor salivary gland carcinoma 'minor salivary gland carcinoma' SubClassOf 'malignant tumor of minor salivary gland' 'minor salivary gland carcinoma' SubClassOf 'salivary gland carcinoma' 'minor salivary gland carcinoma' SubClassOf 'malignant tumor of minor salivary gland' 'minor salivary gland carcinoma' SubClassOf 'salivary gland carcinoma' http://www.ebi.ac.uk/efo/EFO_0009200 Eisenmenger syndrome 'Eisenmenger syndrome' SubClassOf 'syndromic disease' 'Eisenmenger syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0009201 myopic macular degeneration 'myopic macular degeneration' SubClassOf 'retinopathy' 'myopic macular degeneration' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0800380 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial '17-alpha-hydroxylase/17,20-lyase deficiency, combined partial' SubClassOf 'endocrine system disease' '17-alpha-hydroxylase/17,20-lyase deficiency, combined partial' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0800373 carbon monoxide poisoning 'carbon monoxide poisoning' SubClassOf 'poisoning' 'carbon monoxide poisoning' SubClassOf 'poisoning' http://purl.obolibrary.org/obo/MONDO_0800379 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete '17-alpha-hydroxylase/17,20-lyase deficiency, combined complete' SubClassOf 'endocrine system disease' '17-alpha-hydroxylase/17,20-lyase deficiency, combined complete' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0800377 ACTH-independent adrenal Cushing syndrome, somatic 'ACTH-independent adrenal Cushing syndrome, somatic' SubClassOf 'ACTH-independent Cushing syndrome' 'ACTH-independent adrenal Cushing syndrome, somatic' SubClassOf 'ACTH-independent Cushing syndrome' http://purl.obolibrary.org/obo/MONDO_0800378 17,20-lyase deficiency, isolated '17,20-lyase deficiency, isolated' SubClassOf 'endocrine system disease' '17,20-lyase deficiency, isolated' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0800372 Joubert syndrome 29 'Joubert syndrome 29' SubClassOf 'Joubert syndrome' 'Joubert syndrome 29' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0800365 peroxisome biogenesis disorder, complementation group K 'peroxisome biogenesis disorder, complementation group K' SubClassOf 'peroxisome biogenesis disorder due to PEX14 defect' 'peroxisome biogenesis disorder, complementation group K' SubClassOf 'peroxisome biogenesis disorder due to PEX14 defect' http://purl.obolibrary.org/obo/MONDO_0800368 cardiomyopathy, dilated, 1MM 'cardiomyopathy, dilated, 1MM' SubClassOf 'familial dilated cardiomyopathy' 'cardiomyopathy, dilated, 1MM' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0800369 parkinson disease 19B, early-onset 'parkinson disease 19B, early-onset' SubClassOf 'juvenile-onset Parkinson disease' 'parkinson disease 19B, early-onset' SubClassOf 'juvenile-onset Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0800367 cardiomyopathy, dilated, 1LL 'cardiomyopathy, dilated, 1LL' SubClassOf 'familial dilated cardiomyopathy' 'cardiomyopathy, dilated, 1LL' SubClassOf 'familial dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0009266 refractory celiac disease 'refractory celiac disease' SubClassOf 'intestinal disease' 'refractory celiac disease' SubClassOf 'disease shares features of' some 'celiac disease' 'refractory celiac disease' SubClassOf 'intestinal disease' 'refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'celiac disease' http://www.ebi.ac.uk/efo/EFO_0009267 delirium 'delirium' SubClassOf 'cognitive disorder' 'delirium' SubClassOf 'cognitive disorder' http://www.ebi.ac.uk/efo/EFO_0009270 heel bone mineral density 'heel bone mineral density' SubClassOf 'bone density' 'heel bone mineral density' SubClassOf 'is_about' some 'bone element' 'heel bone mineral density' SubClassOf 'bone density' 'heel bone mineral density' SubClassOf 'is_about' some 'bone element' http://www.ebi.ac.uk/efo/EFO_0009259 skin carcinoma 'skin carcinoma' SubClassOf 'carcinoma' 'skin carcinoma' SubClassOf 'epithelial skin neoplasm' 'skin carcinoma' SubClassOf 'skin cancer' 'skin carcinoma' SubClassOf 'carcinoma' 'skin carcinoma' SubClassOf 'epithelial skin neoplasm' 'skin carcinoma' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/MONDO_0011708 autosomal dominant nonsyndromic hearing loss 36 'autosomal dominant nonsyndromic hearing loss 36' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 36' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://www.ebi.ac.uk/efo/EFO_0009254 optic nerve glioblastoma 'optic nerve glioblastoma' SubClassOf 'optic pathway glioma' 'optic nerve glioblastoma' SubClassOf 'optic nerve neoplasm' 'optic nerve glioblastoma' SubClassOf 'optic pathway glioma' 'optic nerve glioblastoma' SubClassOf 'optic nerve neoplasm' http://www.ebi.ac.uk/efo/EFO_0009255 cecal neoplasm 'cecal neoplasm' SubClassOf 'cecal disorder' 'cecal neoplasm' SubClassOf 'colonic neoplasm' 'cecal neoplasm' SubClassOf 'cecal disorder' 'cecal neoplasm' SubClassOf 'colonic neoplasm' http://purl.obolibrary.org/obo/MONDO_0011702 dilated cardiomyopathy 1L 'dilated cardiomyopathy 1L' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1L' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011706 Kufor-Rakeb syndrome 'Kufor-Rakeb syndrome' SubClassOf 'juvenile-onset Parkinson disease' 'Kufor-Rakeb syndrome' SubClassOf 'neurodegeneration with brain iron accumulation' 'Kufor-Rakeb syndrome' SubClassOf 'juvenile-onset Parkinson disease' 'Kufor-Rakeb syndrome' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0011705 lymphangioleiomyomatosis 'lymphangioleiomyomatosis' SubClassOf 'PEComa' 'lymphangioleiomyomatosis' SubClassOf 'PEComa' http://purl.obolibrary.org/obo/MONDO_0800320 cone dystrophy 1, X-linked 'cone dystrophy 1, X-linked' SubClassOf 'retinal degeneration' 'cone dystrophy 1, X-linked' SubClassOf 'retinal degeneration' http://purl.obolibrary.org/obo/MONDO_0800321 congenital heart defects, multiple types, 1, X-linked 'congenital heart defects, multiple types, 1, X-linked' SubClassOf 'congenital heart malformation' 'congenital heart defects, multiple types, 1, X-linked' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0800328 retinitis pigmentosa 94, variable age at onset 'retinitis pigmentosa 94, variable age at onset' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 94, variable age at onset' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0800329 febrile seizures, familial, 3a 'febrile seizures, familial, 3a' SubClassOf 'febrile seizures, familial' 'febrile seizures, familial, 3a' SubClassOf 'febrile seizures, familial' http://purl.obolibrary.org/obo/MONDO_0011719 gastrointestinal stromal tumor 'gastrointestinal stromal tumor' SubClassOf 'genetic disorder' 'gastrointestinal stromal tumor' SubClassOf 'mesenchymal tumor of small intestine' 'gastrointestinal stromal tumor' SubClassOf 'genetic disorder' 'gastrointestinal stromal tumor' SubClassOf 'mesenchymal tumor of small intestine' http://purl.obolibrary.org/obo/MONDO_0011717 hyperinsulinism-hyperammonemia syndrome 'hyperinsulinism-hyperammonemia syndrome' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'hyperinsulinism-hyperammonemia syndrome' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'hyperinsulinism-hyperammonemia syndrome' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'hyperinsulinism-hyperammonemia syndrome' SubClassOf 'urea cycle disorder or inherited hyperammonemia' http://purl.obolibrary.org/obo/MONDO_0011715 Seckel syndrome 2 'Seckel syndrome 2' SubClassOf 'primordial dwarfism and slender bone disorder' 'Seckel syndrome 2' SubClassOf 'Seckel syndrome' 'Seckel syndrome 2' SubClassOf 'Seckel syndrome' 'Seckel syndrome 2' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0800353 congenital disorder of glycosylation, type Ibb 'congenital disorder of glycosylation, type Ibb' SubClassOf 'congenital disorder of glycosylation' 'congenital disorder of glycosylation, type Ibb' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0800356 short-rib thoracic dysplasia 7/20 with polydactyly, digenic 'short-rib thoracic dysplasia 7/20 with polydactyly, digenic' SubClassOf 'short rib dysplasia' 'short-rib thoracic dysplasia 7/20 with polydactyly, digenic' SubClassOf 'short rib dysplasia' http://purl.obolibrary.org/obo/MONDO_0011724 encephalopathy due to GLUT1 deficiency 'encephalopathy due to GLUT1 deficiency' SubClassOf 'GLUT1 deficiency syndrome' 'encephalopathy due to GLUT1 deficiency' SubClassOf 'GLUT1 deficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0011725 Crigler-Najjar syndrome type 2 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' http://purl.obolibrary.org/obo/MONDO_0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011728 benign essential blepharospasm 'benign essential blepharospasm' SubClassOf 'focal dystonia' 'benign essential blepharospasm' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0011726 peripheral arterial occlusive disease 1 'peripheral arterial occlusive disease 1' SubClassOf 'genetic disorder' 'peripheral arterial occlusive disease 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011720 spermatogenic failure 3 'spermatogenic failure 3' SubClassOf 'azoospermia' 'spermatogenic failure 3' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0011721 distal myopathy with anterior tibial onset 'distal myopathy with anterior tibial onset' SubClassOf 'qualitative or quantitative defects of dysferlin' 'distal myopathy with anterior tibial onset' SubClassOf 'distal myopathy' 'distal myopathy with anterior tibial onset' SubClassOf 'qualitative or quantitative defects of dysferlin' 'distal myopathy with anterior tibial onset' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0800347 cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction 'cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction' SubClassOf 'familial hypertrophic cardiomyopathy' 'cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0800344 brachydactyly-syndactyly-oligodactyly syndrome 'brachydactyly-syndactyly-oligodactyly syndrome' SubClassOf 'skeletal system disease' 'brachydactyly-syndactyly-oligodactyly syndrome' SubClassOf 'skeletal system disease' http://www.ebi.ac.uk/efo/EFO_0009189 hyperthyroidism 'hyperthyroidism' SubClassOf 'thyroid disease' 'hyperthyroidism' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/MONDO_0011735 hyper-IgM syndrome type 3 'hyper-IgM syndrome type 3' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome type 3' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0011738 bilateral frontoparietal polymicrogyria 'bilateral frontoparietal polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral frontoparietal polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0011731 glucose-galactose malabsorption 'glucose-galactose malabsorption' SubClassOf 'glucose transport disorder' 'glucose-galactose malabsorption' SubClassOf 'intestinal disease' 'glucose-galactose malabsorption' SubClassOf 'glucose transport disorder' 'glucose-galactose malabsorption' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0011732 familial digital arthropathy-brachydactyly 'familial digital arthropathy-brachydactyly' SubClassOf 'TRPV4-related bone disorder' 'familial digital arthropathy-brachydactyly' SubClassOf 'TRPV4-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0800410 UV-induced skin damage, susceptibility to 'UV-induced skin damage, susceptibility to' SubClassOf 'inherited disease susceptibility' 'UV-induced skin damage, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria 'fumaric aciduria' SubClassOf 'tricarboxylic acid cycle disorder' 'fumaric aciduria' SubClassOf 'tricarboxylic acid cycle disorder' http://purl.obolibrary.org/obo/MONDO_0800416 autism, susceptibility to, 1 'autism, susceptibility to, 1' SubClassOf 'autism, susceptiblity to' 'autism, susceptibility to, 1' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0800414 aplastic anemia, susceptibility to 'aplastic anemia, susceptibility to' SubClassOf 'inherited disease susceptibility' 'aplastic anemia, susceptibility to' SubClassOf 'predisposes towards' some 'aplastic anemia' 'aplastic anemia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'aplastic anemia' 'aplastic anemia, susceptibility to' SubClassOf 'inherited disease susceptibility' http://www.ebi.ac.uk/efo/EFO_0009190 Thyrotoxicosis 'Thyrotoxicosis' SubClassOf 'Graves disease' 'Thyrotoxicosis' SubClassOf 'Graves disease' http://www.ebi.ac.uk/efo/EFO_0009191 Toxic Nodular Goiter 'Toxic Nodular Goiter' SubClassOf 'hyperthyroidism' 'Toxic Nodular Goiter' SubClassOf 'hyperthyroidism' http://www.ebi.ac.uk/efo/EFO_0009192 Drug- or toxin-induced pulmonary arterial hypertension 'Drug- or toxin-induced pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'Drug- or toxin-induced pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0011744 primary intraosseous venous malformation 'primary intraosseous venous malformation' SubClassOf 'infantile hemangioma of rare localization' 'primary intraosseous venous malformation' SubClassOf 'infantile hemangioma of rare localization' http://purl.obolibrary.org/obo/MONDO_0011740 Carney-Stratakis syndrome 'Carney-Stratakis syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Carney-Stratakis syndrome' SubClassOf 'multiple polyglandular tumor' 'Carney-Stratakis syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Carney-Stratakis syndrome' SubClassOf 'multiple polyglandular tumor' http://purl.obolibrary.org/obo/MONDO_0800406 ABCA4-related retinopathy 'ABCA4-related retinopathy' SubClassOf 'inherited retinal dystrophy' 'ABCA4-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0800404 PCARE-related retinopathy 'PCARE-related retinopathy' SubClassOf 'inherited retinal dystrophy' 'PCARE-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0011758 Hurler syndrome 'Hurler syndrome' SubClassOf 'lysosomal storage disease with skeletal involvement' 'Hurler syndrome' SubClassOf 'mucopolysaccharidosis type 1' 'Hurler syndrome' SubClassOf 'syndromic disease' 'Hurler syndrome' SubClassOf 'lysosomal storage disease with skeletal involvement' 'Hurler syndrome' SubClassOf 'mucopolysaccharidosis type 1' 'Hurler syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011759 Hurler-Scheie syndrome 'Hurler-Scheie syndrome' SubClassOf 'syndromic disease' 'Hurler-Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' 'Hurler-Scheie syndrome' SubClassOf 'lysosomal storage disease with skeletal involvement' 'Hurler-Scheie syndrome' SubClassOf 'syndromic disease' 'Hurler-Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' 'Hurler-Scheie syndrome' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0011754 familial hyperreninemic hypoaldosteronism type 2 'familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'familial hypoaldosteronism' 'familial hyperreninemic hypoaldosteronism type 2' SubClassOf 'familial hypoaldosteronism' http://purl.obolibrary.org/obo/MONDO_0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 'developmental delay with short stature, dysmorphic facial features, and sparse hair 1' SubClassOf 'developmental delay with short stature, dysmorphic facial features, and sparse hair' 'developmental delay with short stature, dysmorphic facial features, and sparse hair 1' SubClassOf 'developmental delay with short stature, dysmorphic facial features, and sparse hair' http://www.ebi.ac.uk/efo/EFO_0009199 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' SubClassOf 'pulmonary arterial hypertension' 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' SubClassOf 'respiratory system disease' 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' SubClassOf 'pulmonary arterial hypertension' 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0011766 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome '46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome' SubClassOf '46,XY complete gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0011767 autosomal recessive nonsyndromic hearing loss 31 'autosomal recessive nonsyndromic hearing loss 31' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 31' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0011760 Scheie syndrome 'Scheie syndrome' SubClassOf 'syndromic disease' 'Scheie syndrome' SubClassOf 'lysosomal storage disease with skeletal involvement' 'Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' 'Scheie syndrome' SubClassOf 'syndromic disease' 'Scheie syndrome' SubClassOf 'lysosomal storage disease with skeletal involvement' 'Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' http://purl.obolibrary.org/obo/MONDO_0011765 multiple epiphyseal dysplasia type 5 'multiple epiphyseal dysplasia type 5' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 5' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800421 cardiomyopathy, familial hypertrophic, 4, susceptibility to 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf 'predisposes towards' some 'hypertrophic cardiomyopathy' 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf 'inherited disease susceptibility' 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hypertrophic cardiomyopathy' 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0800422 cirrhosis, noncryptogenic, susceptibility to 'cirrhosis, noncryptogenic, susceptibility to' SubClassOf 'inherited disease susceptibility' 'cirrhosis, noncryptogenic, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0800425 coronary artery disease, severe, susceptibility to 'coronary artery disease, severe, susceptibility to' SubClassOf 'inherited disease susceptibility' 'coronary artery disease, severe, susceptibility to' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary artery disease, severe, susceptibility to' SubClassOf 'inherited disease susceptibility' 'coronary artery disease, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0021102 prostate phyllodes tumor 'prostate phyllodes tumor' EquivalentTo 'phyllodes tumor' and ('disease has location' some 'prostate gland') 'prostate phyllodes tumor' SubClassOf 'urinary system neoplasm' 'prostate phyllodes tumor' SubClassOf 'phyllodes tumor' 'prostate phyllodes tumor' SubClassOf 'prostate neoplasm' 'prostate phyllodes tumor' EquivalentTo 'phyllodes tumor' and ('disease has location' some 'prostate gland') 'prostate phyllodes tumor' SubClassOf 'urinary system neoplasm' 'prostate phyllodes tumor' SubClassOf 'prostate neoplasm' 'prostate phyllodes tumor' SubClassOf 'phyllodes tumor' http://purl.obolibrary.org/obo/MONDO_0021104 alcoholic fatty liver disease 'alcoholic fatty liver disease' SubClassOf 'fatty liver disease' 'alcoholic fatty liver disease' SubClassOf 'fatty liver disease' http://purl.obolibrary.org/obo/MONDO_0011778 multiple epiphyseal dysplasia, Al-Gazali type 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'KIF7-related ciliopathy' 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'KIF7-related ciliopathy' http://purl.obolibrary.org/obo/MONDO_0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 'neuronopathy, distal hereditary motor, autosomal recessive 3' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 3' SubClassOf 'spinal muscular atrophy' 'neuronopathy, distal hereditary motor, autosomal recessive 3' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 3' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0011772 B4GALT1-congenital disorder of glycosylation 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'B4GALT1-congenital disorder of glycosylation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0035740 acquired factor XI deficiency 'acquired factor XI deficiency' SubClassOf 'factor XI deficiency' 'acquired factor XI deficiency' SubClassOf 'factor XI deficiency' http://purl.obolibrary.org/obo/MONDO_0011775 nasopharyngeal carcinoma, susceptibility to, 1 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'nasopharyngeal carcinoma' 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'nasopharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0011776 CINCA syndrome 'CINCA syndrome' SubClassOf 'musculoskeletal system disease' 'CINCA syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' 'CINCA syndrome' SubClassOf 'musculoskeletal system disease' 'CINCA syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' http://purl.obolibrary.org/obo/MONDO_0011773 anauxetic dysplasia 'anauxetic dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'anauxetic dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0060711 Jaberi-Elahi syndrome 'Jaberi-Elahi syndrome' SubClassOf 'genetic disorder' 'Jaberi-Elahi syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060713 deafness, congenital heart defects, and posterior embryotoxon 'deafness, congenital heart defects, and posterior embryotoxon' SubClassOf 'genetic disorder' 'deafness, congenital heart defects, and posterior embryotoxon' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021106 laminopathy 'laminopathy' SubClassOf 'genetic disorder' 'laminopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021107 narcolepsy 'narcolepsy' SubClassOf 'sleep-wake disorder' 'narcolepsy' SubClassOf 'sleep-wake disorder' http://purl.obolibrary.org/obo/MONDO_0021108 meningitis 'meningitis' SubClassOf 'disease has location' some 'meninx' 'meningitis' SubClassOf 'disease has location' some 'meninx' http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma 'inverted urothelial papilloma' SubClassOf 'urothelial papilloma' 'inverted urothelial papilloma' SubClassOf 'urothelial papilloma' http://purl.obolibrary.org/obo/MONDO_0011788 cloverleaf skull-multiple congenital anomalies syndrome 'cloverleaf skull-multiple congenital anomalies syndrome' SubClassOf 'syndromic craniosynostosis' 'cloverleaf skull-multiple congenital anomalies syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0035737 acquired factor V deficiency 'acquired factor V deficiency' SubClassOf 'acquired coagulation factor deficiency' 'acquired factor V deficiency' SubClassOf 'factor V deficiency' 'acquired factor V deficiency' SubClassOf 'acquired coagulation factor deficiency' 'acquired factor V deficiency' SubClassOf 'factor V deficiency' http://purl.obolibrary.org/obo/MONDO_0011789 familial meningioma 'familial meningioma' SubClassOf 'inherited disease susceptibility' 'familial meningioma' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0035738 acquired factor VII deficiency 'acquired factor VII deficiency' SubClassOf 'factor VII deficiency' 'acquired factor VII deficiency' SubClassOf 'acquired coagulation factor deficiency' 'acquired factor VII deficiency' SubClassOf 'factor VII deficiency' 'acquired factor VII deficiency' SubClassOf 'acquired coagulation factor deficiency' http://purl.obolibrary.org/obo/MONDO_0011783 ALG12-congenital disorder of glycosylation 'ALG12-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG12-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG12-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG12-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0011781 spinocerebellar ataxia type 17 'spinocerebellar ataxia type 17' SubClassOf 'cerebelloparenchymal disorder' 'spinocerebellar ataxia type 17' SubClassOf 'Huntington disease-like syndrome' 'spinocerebellar ataxia type 17' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 17' SubClassOf 'cerebelloparenchymal disorder' 'spinocerebellar ataxia type 17' SubClassOf 'Huntington disease-like syndrome' 'spinocerebellar ataxia type 17' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011787 autosomal recessive limb-girdle muscular dystrophy type 2I 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'myopathy caused by variation in FKRP' 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'qualitative or quantitative defects of FKRP' 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'myopathy caused by variation in FKRP' 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'qualitative or quantitative defects of FKRP' http://purl.obolibrary.org/obo/MONDO_0011785 hereditary spastic paraplegia 19 'hereditary spastic paraplegia 19' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 19' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0060702 spondyloepimetaphyseal dysplasia, di rocco type 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0060707 Ververi-Brady syndrome 'Ververi-Brady syndrome' SubClassOf 'syndromic intellectual disability' 'Ververi-Brady syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0021120 functioning endocrine neoplasm 'functioning endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'functioning endocrine neoplasm' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021121 hemangioendothelioma 'hemangioendothelioma' SubClassOf 'blood vessel neoplasm' 'hemangioendothelioma' SubClassOf 'blood vessel neoplasm' http://purl.obolibrary.org/obo/MONDO_0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone 'Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' http://purl.obolibrary.org/obo/MONDO_0011795 anonychia-microcephaly syndrome 'anonychia-microcephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anonychia-microcephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011790 Amish lethal microcephaly 'Amish lethal microcephaly' SubClassOf 'microcephaly' 'Amish lethal microcephaly' SubClassOf 'thiamine-responsive dysfunction syndrome' 'Amish lethal microcephaly' SubClassOf 'microcephaly' 'Amish lethal microcephaly' SubClassOf 'thiamine-responsive dysfunction syndrome' http://purl.obolibrary.org/obo/MONDO_0021110 sweat gland adenoma 'sweat gland adenoma' SubClassOf 'sweat gland neoplasm' 'sweat gland adenoma' SubClassOf 'epithelial skin neoplasm' 'sweat gland adenoma' SubClassOf 'adenoma' 'sweat gland adenoma' SubClassOf 'sweat gland neoplasm' 'sweat gland adenoma' SubClassOf 'epithelial skin neoplasm' 'sweat gland adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0021112 scrotum cancer 'scrotum cancer' SubClassOf 'scrotum neoplasm' 'scrotum cancer' SubClassOf 'scrotum neoplasm' http://purl.obolibrary.org/obo/MONDO_0021114 Bartholin gland neoplasm 'Bartholin gland neoplasm' SubClassOf 'vulvar neoplasm' 'Bartholin gland neoplasm' SubClassOf 'vulvar neoplasm' http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm 'lung neoplasm' SubClassOf 'lung disease' 'lung neoplasm' SubClassOf 'neoplasm of thorax' 'lung neoplasm' SubClassOf 'lung disease' 'lung neoplasm' SubClassOf 'neoplasm of thorax' http://purl.obolibrary.org/obo/MONDO_0021118 intestinal neoplasm 'intestinal neoplasm' SubClassOf 'intestinal disease' 'intestinal neoplasm' SubClassOf 'digestive system neoplasm' 'intestinal neoplasm' SubClassOf 'intestinal disease' 'intestinal neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021119 non-functioning endocrine neoplasm 'non-functioning endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'non-functioning endocrine neoplasm' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021142 acquired rippling muscle disease 'acquired rippling muscle disease' SubClassOf 'rippling muscle disease' 'acquired rippling muscle disease' SubClassOf 'rippling muscle disease' http://purl.obolibrary.org/obo/MONDO_0021143 melanocytic neoplasm 'melanocytic neoplasm' SubClassOf 'neoplasm' 'melanocytic neoplasm' SubClassOf 'neurocristopathy' 'melanocytic neoplasm' SubClassOf 'neoplasm' 'melanocytic neoplasm' SubClassOf 'neurocristopathy' http://purl.obolibrary.org/obo/MONDO_0021144 ovarian clear cell tumor 'ovarian clear cell tumor' SubClassOf 'ovarian epithelial tumor' 'ovarian clear cell tumor' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0021148 female reproductive system neoplasm 'female reproductive system neoplasm' SubClassOf 'female reproductive system disease' 'female reproductive system neoplasm' SubClassOf 'reproductive system neoplasm' 'female reproductive system neoplasm' SubClassOf 'female reproductive system disease' 'female reproductive system neoplasm' SubClassOf 'reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf 'syndromic disease' 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0021131 frontal lobe ependymal tumor 'frontal lobe ependymal tumor' SubClassOf 'frontal lobe neoplasm' 'frontal lobe ependymal tumor' SubClassOf 'ependymal tumor of brain' 'frontal lobe ependymal tumor' SubClassOf 'frontal lobe neoplasm' 'frontal lobe ependymal tumor' SubClassOf 'ependymal tumor of brain' http://purl.obolibrary.org/obo/MONDO_0021133 acquired factor XIII deficiency 'acquired factor XIII deficiency' SubClassOf 'factor XIII deficiency' 'acquired factor XIII deficiency' SubClassOf 'factor XIII deficiency' http://purl.obolibrary.org/obo/MONDO_0021134 acquired factor X deficiency 'acquired factor X deficiency' SubClassOf 'factor X deficiency' 'acquired factor X deficiency' SubClassOf 'factor X deficiency' http://purl.obolibrary.org/obo/MONDO_0060745 intellectual developmental disorder with or without epilepsy or cerebellar ataxia 'intellectual developmental disorder with or without epilepsy or cerebellar ataxia' SubClassOf 'genetic disorder' 'intellectual developmental disorder with or without epilepsy or cerebellar ataxia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021138 bone marrow cancer 'bone marrow cancer' SubClassOf 'bone marrow neoplasm' 'bone marrow cancer' SubClassOf 'bone marrow neoplasm' http://purl.obolibrary.org/obo/MONDO_0021164 posthitis 'posthitis' SubClassOf 'inflammatory disease' 'posthitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0021165 Paget disease 'Paget disease' SubClassOf 'adenocarcinoma' 'Paget disease' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0021169 epithelioid hemangioma 'epithelioid hemangioma' SubClassOf 'hemangioma' 'epithelioid hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0021160 gonococcal cystitis 'gonococcal cystitis' SubClassOf 'gonorrhea' 'gonococcal cystitis' SubClassOf 'cystitis' 'gonococcal cystitis' SubClassOf 'gonorrhea' 'gonococcal cystitis' SubClassOf 'cystitis' http://purl.obolibrary.org/obo/MONDO_0021161 gonococcal prostatitis 'gonococcal prostatitis' SubClassOf 'gonorrhea' 'gonococcal prostatitis' SubClassOf 'prostatitis' 'gonococcal prostatitis' SubClassOf 'gonorrhea' 'gonococcal prostatitis' SubClassOf 'prostatitis' http://purl.obolibrary.org/obo/MONDO_0060733 humerofemoral hypoplasia with radiotibial ray deficiency 'humerofemoral hypoplasia with radiotibial ray deficiency' SubClassOf 'genetic disorder' 'humerofemoral hypoplasia with radiotibial ray deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021154 dermis disorder 'dermis disorder' SubClassOf 'skin disease' 'dermis disorder' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0021156 hypophysitis 'hypophysitis' SubClassOf 'pituitary gland disease' 'hypophysitis' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0021157 gonococcal cervicitis 'gonococcal cervicitis' SubClassOf 'inflammatory disease' 'gonococcal cervicitis' SubClassOf 'cervicitis' 'gonococcal cervicitis' SubClassOf 'gonorrhea' 'gonococcal cervicitis' SubClassOf 'inflammatory disease' 'gonococcal cervicitis' SubClassOf 'cervicitis' 'gonococcal cervicitis' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/MONDO_0021159 gonococcal salpingitis 'gonococcal salpingitis' SubClassOf 'salpingitis' 'gonococcal salpingitis' SubClassOf 'gonorrhea' 'gonococcal salpingitis' SubClassOf 'salpingitis' 'gonococcal salpingitis' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/MONDO_0060720 congenital disorder of glycosylation with defective fucosylation 'congenital disorder of glycosylation with defective fucosylation' SubClassOf 'congenital disorder of glycosylation' 'congenital disorder of glycosylation with defective fucosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipidemia 'hyperlipidemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipidemia') 'hyperlipidemia' SubClassOf 'metabolic disease' 'hyperlipidemia' SubClassOf 'disease has major feature' some 'Hyperlipidemia' 'hyperlipidemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipidemia') 'hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipidemia' 'hyperlipidemia' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0021181 inherited blood coagulation disorder 'inherited blood coagulation disorder' SubClassOf 'blood coagulation disease' 'inherited blood coagulation disorder' SubClassOf 'genetic disorder' 'inherited blood coagulation disorder' SubClassOf 'blood coagulation disease' 'inherited blood coagulation disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021175 herpetic vulvovaginitis 'herpetic vulvovaginitis' SubClassOf 'vulvovaginitis' 'herpetic vulvovaginitis' SubClassOf 'vulvovaginitis' http://purl.obolibrary.org/obo/MONDO_0021179 proteostasis deficiencies 'proteostasis deficiencies' SubClassOf 'metabolic disease' 'proteostasis deficiencies' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0021171 Timothy syndrome, classic type 'Timothy syndrome, classic type' SubClassOf 'Timothy syndrome' 'Timothy syndrome, classic type' SubClassOf 'Timothy syndrome' http://purl.obolibrary.org/obo/MONDO_0060782 premalignant hematological system disease 'premalignant hematological system disease' SubClassOf 'hematologic disease' 'premalignant hematological system disease' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0060774 vaginal fibroepithelial polyp 'vaginal fibroepithelial polyp' SubClassOf 'polyp of vagina' 'vaginal fibroepithelial polyp' SubClassOf 'fibroepithelial polyp' 'vaginal fibroepithelial polyp' SubClassOf 'fibroepithelial polyp' 'vaginal fibroepithelial polyp' SubClassOf 'polyp of vagina' http://purl.obolibrary.org/obo/MONDO_0060777 cervical fibroepithelial polyp 'cervical fibroepithelial polyp' SubClassOf 'cervical polyp' 'cervical fibroepithelial polyp' SubClassOf 'fibroepithelial polyp' 'cervical fibroepithelial polyp' SubClassOf 'cervical polyp' 'cervical fibroepithelial polyp' SubClassOf 'fibroepithelial polyp' http://purl.obolibrary.org/obo/MONDO_0060778 adult Fanconi syndrome 'adult Fanconi syndrome' SubClassOf 'Fanconi renotubular syndrome' 'adult Fanconi syndrome' SubClassOf 'Fanconi renotubular syndrome' http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome 'acquired Fanconi syndrome' SubClassOf 'Fanconi renotubular syndrome' 'acquired Fanconi syndrome' SubClassOf 'Fanconi renotubular syndrome' http://purl.obolibrary.org/obo/MONDO_0021192 odontogenic neoplasm 'odontogenic neoplasm' SubClassOf 'head and neck neoplasia' 'odontogenic neoplasm' SubClassOf 'tooth disease' 'odontogenic neoplasm' SubClassOf 'head and neck neoplasia' 'odontogenic neoplasm' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0021193 neuroepithelial neoplasm 'neuroepithelial neoplasm' SubClassOf 'nervous system neoplasm' 'neuroepithelial neoplasm' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf 'BAFopathy' 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf 'BAFopathy' 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0060765 fibroepithelial polyp 'fibroepithelial polyp' SubClassOf 'polyp' 'fibroepithelial polyp' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0060766 anal polyp 'anal polyp' SubClassOf 'gastrointestinal polyp' 'anal polyp' SubClassOf 'anus disease' 'anal polyp' SubClassOf 'gastrointestinal polyp' 'anal polyp' SubClassOf 'anus disease' http://purl.obolibrary.org/obo/MONDO_0060768 gingival fibroepithelial polyp 'gingival fibroepithelial polyp' SubClassOf 'epulis' 'gingival fibroepithelial polyp' SubClassOf 'fibroepithelial polyp' 'gingival fibroepithelial polyp' SubClassOf 'epulis' 'gingival fibroepithelial polyp' SubClassOf 'fibroepithelial polyp' http://purl.obolibrary.org/obo/MONDO_0060591 immunodeficiency, developmental delay, and hypohomocysteinemia 'immunodeficiency, developmental delay, and hypohomocysteinemia' SubClassOf 'genetic disorder' 'immunodeficiency, developmental delay, and hypohomocysteinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060583 platelet abnormalities with eosinophilia and immune-mediated inflammatory disease 'platelet abnormalities with eosinophilia and immune-mediated inflammatory disease' SubClassOf 'genetic disorder' 'platelet abnormalities with eosinophilia and immune-mediated inflammatory disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 'facial palsy, congenital, with ptosis and velopharyngeal dysfunction' SubClassOf 'genetic disorder' 'facial palsy, congenital, with ptosis and velopharyngeal dysfunction' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0000712 stroke 'stroke' SubClassOf 'disease has major feature' some 'Stroke' 'stroke' SubClassOf 'disease has location' some 'brain blood vessel' 'stroke' SubClassOf 'cerebrovascular disorder' 'stroke' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Stroke' 'stroke' SubClassOf 'disease has location' some 'brain blood vessel' 'stroke' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0000713 subarachnoid hemorrhage 'subarachnoid hemorrhage' SubClassOf 'disease has location' some 'brain blood vessel' 'subarachnoid hemorrhage' SubClassOf 'brain disease' 'subarachnoid hemorrhage' SubClassOf 'disease has location' some 'brain blood vessel' 'subarachnoid hemorrhage' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf 'skin disease' 'systemic scleroderma' SubClassOf 'scleroderma' 'systemic scleroderma' SubClassOf 'skin disease' 'systemic scleroderma' SubClassOf 'scleroderma' http://www.ebi.ac.uk/efo/EFO_0000701 skin disease 'skin disease' SubClassOf 'integumentary system disease' 'skin disease' SubClassOf 'integumentary system disease' http://www.ebi.ac.uk/efo/EFO_0000702 small cell lung carcinoma 'small cell lung carcinoma' SubClassOf 'lung carcinoma' 'small cell lung carcinoma' SubClassOf 'small cell carcinoma' 'small cell lung carcinoma' SubClassOf 'pulmonary neuroendocrine tumor' 'small cell lung carcinoma' SubClassOf 'lung carcinoma' 'small cell lung carcinoma' SubClassOf 'small cell carcinoma' 'small cell lung carcinoma' SubClassOf 'pulmonary neuroendocrine tumor' http://www.ebi.ac.uk/efo/EFO_0000705 spindle cell tumor 'spindle cell tumor' SubClassOf 'neoplasm' 'spindle cell tumor' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0000706 spondyloarthropathy 'spondyloarthropathy' SubClassOf 'joint disease' 'spondyloarthropathy' SubClassOf 'immune system disease' 'spondyloarthropathy' SubClassOf 'joint disease' 'spondyloarthropathy' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_0000707 squamous cell carcinoma 'squamous cell carcinoma' SubClassOf 'carcinoma' 'squamous cell carcinoma' SubClassOf 'squamous cell neoplasm' 'squamous cell carcinoma' SubClassOf 'carcinoma' 'squamous cell carcinoma' SubClassOf 'squamous cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma 'squamous cell lung carcinoma' SubClassOf 'lung carcinoma' 'squamous cell lung carcinoma' SubClassOf 'squamous cell carcinoma' 'squamous cell lung carcinoma' SubClassOf 'lung carcinoma' 'squamous cell lung carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0000730 undifferentiated sarcoma 'undifferentiated sarcoma' SubClassOf 'liver sarcoma' 'undifferentiated sarcoma' SubClassOf 'liver sarcoma' http://www.ebi.ac.uk/efo/EFO_0000731 uterine fibroid 'uterine fibroid' SubClassOf 'benign neoplasm of corpus uteri' 'uterine fibroid' SubClassOf 'fibroma' 'uterine fibroid' SubClassOf 'leiomyoma' 'uterine fibroid' SubClassOf 'benign neoplasm of corpus uteri' 'uterine fibroid' SubClassOf 'fibroma' 'uterine fibroid' SubClassOf 'leiomyoma' http://www.ebi.ac.uk/efo/EFO_0000734 vitamin B12 deficiency 'vitamin B12 deficiency' SubClassOf 'vitamin B deficiency' 'vitamin B12 deficiency' SubClassOf 'vitamin B deficiency' http://www.ebi.ac.uk/efo/EFO_0000736 well-differentiated liposarcoma 'well-differentiated liposarcoma' SubClassOf 'liposarcoma' 'well-differentiated liposarcoma' SubClassOf 'liposarcoma' http://www.ebi.ac.uk/efo/EFO_0000737 well-differentiated sarcoma 'well-differentiated sarcoma' SubClassOf 'sarcoma' 'well-differentiated sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0000729 ulcerative colitis 'ulcerative colitis' SubClassOf 'colitis' 'ulcerative colitis' SubClassOf 'colitis' http://www.ebi.ac.uk/efo/EFO_0000756 melanoma 'melanoma' SubClassOf 'melanocytic neoplasm' 'melanoma' SubClassOf 'melanocytic neoplasm' http://www.ebi.ac.uk/efo/EFO_0000759 lipoma 'lipoma' SubClassOf 'benign lipomatous neoplasm' 'lipoma' SubClassOf 'benign lipomatous neoplasm' http://www.ebi.ac.uk/efo/EFO_0000770 malignant pleural mesothelioma 'malignant pleural mesothelioma' SubClassOf 'Pleural Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'Malignant Pleural Neoplasm' 'malignant pleural mesothelioma' SubClassOf 'Pleural Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant pleural mesothelioma' SubClassOf 'Malignant Pleural Neoplasm' http://www.ebi.ac.uk/efo/EFO_0000771 bacterial disease 'bacterial disease' SubClassOf 'infectious disease' 'bacterial disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0000772 pneumococcal infection 'pneumococcal infection' SubClassOf 'streptococcal infection' 'pneumococcal infection' SubClassOf 'streptococcal infection' http://www.ebi.ac.uk/efo/EFO_0000775 Whipple's disease 'Whipple's disease' SubClassOf 'intestinal disease' 'Whipple's disease' SubClassOf 'disease has location' some 'digestive system' 'Whipple's disease' SubClassOf 'bacterial disease' 'Whipple's disease' SubClassOf 'intestinal disease' 'Whipple's disease' SubClassOf 'disease has location' some 'digestive system' 'Whipple's disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0000776 Aeromonas hydrophila infection 'Aeromonas hydrophila infection' SubClassOf 'bacterial disease' 'Aeromonas hydrophila infection' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0000777 human granulocytic anaplasmosis 'human granulocytic anaplasmosis' SubClassOf 'disease has location' some 'neutrophil' 'human granulocytic anaplasmosis' SubClassOf 'disease has location' some 'neutrophil' http://www.ebi.ac.uk/efo/EFO_0000778 anthrax infection 'anthrax infection' SubClassOf 'primary bacterial infectious disease' 'anthrax infection' SubClassOf 'primary Bacillaceae infectious disease' 'anthrax infection' SubClassOf 'primary bacterial infectious disease' 'anthrax infection' SubClassOf 'primary Bacillaceae infectious disease' http://www.ebi.ac.uk/efo/EFO_0000779 Drosophila C virus infection 'Drosophila C virus infection' SubClassOf 'viral infectious disease, non-human animal' 'Drosophila C virus infection' SubClassOf 'viral infectious disease, non-human animal' http://www.ebi.ac.uk/efo/EFO_0000760 malignant peripheral nerve sheath tumor 'malignant peripheral nerve sheath tumor' SubClassOf 'tumor of cranial and spinal nerves' 'malignant peripheral nerve sheath tumor' SubClassOf 'nerve sheath neoplasm' 'malignant peripheral nerve sheath tumor' SubClassOf 'peripheral nervous system cancer' 'malignant peripheral nerve sheath tumor' SubClassOf 'tumor of cranial and spinal nerves' 'malignant peripheral nerve sheath tumor' SubClassOf 'nerve sheath neoplasm' 'malignant peripheral nerve sheath tumor' SubClassOf 'peripheral nervous system cancer' http://www.ebi.ac.uk/efo/EFO_0000762 hepatocellular adenoma 'hepatocellular adenoma' SubClassOf 'adenoma' 'hepatocellular adenoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'hepatocellular adenoma' SubClassOf 'benign digestive system neoplasm' 'hepatocellular adenoma' SubClassOf 'adenoma' 'hepatocellular adenoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'hepatocellular adenoma' SubClassOf 'benign digestive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0000763 viral disease 'viral disease' SubClassOf 'infectious disease' 'viral disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0000764 HIV infection 'HIV infection' SubClassOf 'viral sexually transmitted disease' 'HIV infection' SubClassOf 'viral sexually transmitted disease' http://www.ebi.ac.uk/efo/EFO_0000765 AIDS 'AIDS' SubClassOf 'HIV infection' 'AIDS' SubClassOf 'T-cell immunodeficiency' 'AIDS' SubClassOf 'HIV infection' 'AIDS' SubClassOf 'T-cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0800485 AKT3-related overgrowth spectrum 'AKT3-related overgrowth spectrum' SubClassOf 'overgrowth syndrome' 'AKT3-related overgrowth spectrum' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0800486 metabolic bone disorder 'metabolic bone disorder' SubClassOf 'bone disease' 'metabolic bone disorder' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0000767 idiopathic cardiomyopathy 'idiopathic cardiomyopathy' SubClassOf 'cardiomyopathy' 'idiopathic cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0800483 SF3B4-related acrofacial dysostosis 'SF3B4-related acrofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'SF3B4-related acrofacial dysostosis' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0800484 PRKAG2-related cardiomyopathy 'PRKAG2-related cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'PRKAG2-related cardiomyopathy' SubClassOf 'familial cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0009117 typhus 'typhus' SubClassOf 'vector-borne disease' 'typhus' SubClassOf 'vector-borne disease' http://www.ebi.ac.uk/efo/EFO_0000780 Enterococcus faecalis infection 'Enterococcus faecalis infection' SubClassOf 'bacterial disease' 'Enterococcus faecalis infection' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0000781 Pectobacterium carotovorum infection 'Pectobacterium carotovorum infection' SubClassOf 'bacterial disease' 'Pectobacterium carotovorum infection' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0000783 myositis 'myositis' SubClassOf 'disease has location' some 'musculature of body' 'myositis' SubClassOf 'inflammatory disease' 'myositis' SubClassOf 'myopathy' 'myositis' SubClassOf 'disease has location' some 'musculature of body' 'myositis' SubClassOf 'inflammatory disease' 'myositis' SubClassOf 'myopathy' http://www.ebi.ac.uk/efo/EFO_0009119 precursor lymphoblastic lymphoma/leukemia 'precursor lymphoblastic lymphoma/leukemia' SubClassOf 'lymphoid neoplasm' 'precursor lymphoblastic lymphoma/leukemia' SubClassOf 'lymphoid neoplasm' http://purl.obolibrary.org/obo/MONDO_0800460 ASAH1-related disorders 'ASAH1-related disorders' SubClassOf 'inborn errors of metabolism' 'ASAH1-related disorders' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0800453 juvenile absence epilepsy 'juvenile absence epilepsy' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' 'juvenile absence epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'juvenile absence epilepsy' SubClassOf 'absence epilepsy' 'juvenile absence epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'juvenile absence epilepsy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'juvenile absence epilepsy' http://purl.obolibrary.org/obo/MONDO_0800456 SYNCRIP-related neurodevelopmental disorder 'SYNCRIP-related neurodevelopmental disorder' SubClassOf 'Mendelian neurodevelopmental disorder' 'SYNCRIP-related neurodevelopmental disorder' SubClassOf 'Mendelian neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_0009152 intellectual disability, autosomal dominant 52 'intellectual disability, autosomal dominant 52' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 52' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0800448 leukoencephalopathy with vanishing white matter 'leukoencephalopathy with vanishing white matter' SubClassOf 'leukodystrophy' 'leukoencephalopathy with vanishing white matter' SubClassOf 'leukodystrophy' http://www.ebi.ac.uk/efo/EFO_0009165 intellectual disability, autosomal dominant 53 'intellectual disability, autosomal dominant 53' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 53' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009158 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 'encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy' SubClassOf 'inherited neurodegenerative disorder' 'encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy' SubClassOf 'Mendelian encephalopathy' 'encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy' SubClassOf 'inherited neurodegenerative disorder' 'encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy' SubClassOf 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy 'GNE myopathy' SubClassOf 'inclusion body myositis' 'GNE myopathy' SubClassOf 'syndromic constitutional thrombocytopenia' 'GNE myopathy' SubClassOf 'hereditary inclusion-body myopathy' 'GNE myopathy' SubClassOf 'disorder of multiple glycosylation' 'GNE myopathy' SubClassOf 'inclusion body myositis' 'GNE myopathy' SubClassOf 'syndromic constitutional thrombocytopenia' 'GNE myopathy' SubClassOf 'disorder of multiple glycosylation' 'GNE myopathy' SubClassOf 'hereditary inclusion-body myopathy' http://purl.obolibrary.org/obo/MONDO_0011604 spondylo-ocular syndrome 'spondylo-ocular syndrome' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'spondylo-ocular syndrome' SubClassOf 'congenital vitreoretinal dysplasia' 'spondylo-ocular syndrome' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'spondylo-ocular syndrome' SubClassOf 'congenital vitreoretinal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011601 neonatal intrahepatic cholestasis due to citrin deficiency 'neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'citrin deficiency' 'neonatal intrahepatic cholestasis due to citrin deficiency' SubClassOf 'citrin deficiency' http://purl.obolibrary.org/obo/MONDO_0800470 TUBB4A-related neurologic disorder 'TUBB4A-related neurologic disorder' SubClassOf 'inherited neurodegenerative disorder' 'TUBB4A-related neurologic disorder' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0011605 generalized basaloid follicular hamartoma syndrome 'generalized basaloid follicular hamartoma syndrome' SubClassOf 'hereditary skin disorder' 'generalized basaloid follicular hamartoma syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0800463 KIF7-related ciliopathy 'KIF7-related ciliopathy' SubClassOf 'ciliopathy' 'KIF7-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0800461 COL4A1-related disorder 'COL4A1-related disorder' SubClassOf 'genetic disorder' 'COL4A1-related disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0800462 FHL1-related myopathy 'FHL1-related myopathy' SubClassOf 'myopathy' 'FHL1-related myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0800467 dyskeratosis congenita and related telomere biology disorder 'dyskeratosis congenita and related telomere biology disorder' SubClassOf 'dyskeratosis congenita' 'dyskeratosis congenita and related telomere biology disorder' SubClassOf 'dyskeratosis congenita' http://purl.obolibrary.org/obo/MONDO_0800468 SCN4A-related channelopathy 'SCN4A-related channelopathy' SubClassOf 'muscular channelopathy' 'SCN4A-related channelopathy' SubClassOf 'muscular channelopathy' http://purl.obolibrary.org/obo/MONDO_0800465 CTSC-related disorder 'CTSC-related disorder' SubClassOf 'ectodermal dysplasia syndrome' 'CTSC-related disorder' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0800466 disorder of GNAS inactivation 'disorder of GNAS inactivation' SubClassOf 'endocrine system disease' 'disorder of GNAS inactivation' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'stromme syndrome' SubClassOf 'primary ciliary dyskinesia' 'stromme syndrome' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' 'stromme syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'stromme syndrome' SubClassOf 'primary ciliary dyskinesia' 'stromme syndrome' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' '3-hydroxy-3-methylglutaryl-CoA synthase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0011615 East Texas bleeding disorder 'East Texas bleeding disorder' SubClassOf 'coagulation protein disease' 'East Texas bleeding disorder' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy 'glycine encephalopathy' SubClassOf 'brain disease' 'glycine encephalopathy' SubClassOf 'inborn disorder of serine family metabolism' 'glycine encephalopathy' SubClassOf 'brain disease' 'glycine encephalopathy' SubClassOf 'inborn disorder of serine family metabolism' http://purl.obolibrary.org/obo/MONDO_0011610 dimethylglycine dehydrogenase deficiency 'dimethylglycine dehydrogenase deficiency' SubClassOf 'disorder of methylamine metabolism' 'dimethylglycine dehydrogenase deficiency' SubClassOf 'disorder of methylamine metabolism' http://www.ebi.ac.uk/efo/EFO_0009071 malignant hyperthermia, susceptibility to, 1 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'malignant hyperthermia, susceptibility to' 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' 'malignant hyperthermia, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant hyperthermia of anesthesia' 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'malignant hyperthermia, susceptibility to' http://www.ebi.ac.uk/efo/EFO_0009059 Spinocerebellar ataxia type 42 'Spinocerebellar ataxia type 42' SubClassOf 'autosomal dominant cerebellar ataxia type III' 'Spinocerebellar ataxia type 42' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0011624 transaldolase deficiency 'transaldolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'transaldolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0011629 MOGS-congenital disorder of glycosylation 'MOGS-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'MOGS-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'MOGS-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'MOGS-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0011628 propionic acidemia 'propionic acidemia' SubClassOf 'classic organic aciduria' 'propionic acidemia' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0011621 acropectoral syndrome 'acropectoral syndrome' SubClassOf 'congenital limb malformation' 'acropectoral syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'acropectoral syndrome' SubClassOf 'congenital limb malformation' 'acropectoral syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' http://purl.obolibrary.org/obo/MONDO_0011620 metaphyseal dysplasia, Braun-Tinschert type 'metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'skeletal dysplasia' 'metaphyseal dysplasia, Braun-Tinschert type' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_0009064 X-linked erythropoietic protoporphyria 'X-linked erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' 'X-linked erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' http://purl.obolibrary.org/obo/MONDO_0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' http://purl.obolibrary.org/obo/MONDO_0011638 neuroferritinopathy 'neuroferritinopathy' SubClassOf 'neurodegeneration with brain iron accumulation' 'neuroferritinopathy' SubClassOf 'Huntington disease-like syndrome' 'neuroferritinopathy' SubClassOf 'disorder of iron metabolism and transport' 'neuroferritinopathy' SubClassOf 'neurodegeneration with brain iron accumulation' 'neuroferritinopathy' SubClassOf 'Huntington disease-like syndrome' 'neuroferritinopathy' SubClassOf 'disorder of iron metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0011633 Charcot-Marie-Tooth disease axonal type 2C 'Charcot-Marie-Tooth disease axonal type 2C' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease axonal type 2C' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2C' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease axonal type 2C' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011631 hemochromatosis type 4 'hemochromatosis type 4' SubClassOf 'hereditary hemochromatosis' 'hemochromatosis type 4' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0011640 genitopatellar syndrome 'genitopatellar syndrome' SubClassOf 'skeletal dysplasia' 'genitopatellar syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'genitopatellar syndrome' SubClassOf 'syndromic disease' 'genitopatellar syndrome' SubClassOf 'dysostosis' 'genitopatellar syndrome' SubClassOf 'skeletal dysplasia' 'genitopatellar syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'genitopatellar syndrome' SubClassOf 'syndromic disease' 'genitopatellar syndrome' SubClassOf 'dysostosis' http://www.ebi.ac.uk/efo/EFO_0009082 Pilomatrixoma 'Pilomatrixoma' SubClassOf 'hair follicle neoplasm' 'Pilomatrixoma' SubClassOf 'hair follicle neoplasm' http://purl.obolibrary.org/obo/MONDO_0011650 atrioventricular septal defect, susceptibility to, 2 'atrioventricular septal defect, susceptibility to, 2' SubClassOf 'predisposes towards' some 'familial atrioventricular septal defect' 'atrioventricular septal defect, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'familial atrioventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0011651 intellectual disability, short stature, facial anomalies, and joint dislocations 'intellectual disability, short stature, facial anomalies, and joint dislocations' SubClassOf 'genetic disorder' 'intellectual disability, short stature, facial anomalies, and joint dislocations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011652 Phelan-McDermid syndrome 'Phelan-McDermid syndrome' SubClassOf 'chromosome 22q deletion' 'Phelan-McDermid syndrome' SubClassOf 'chromosome 22q deletion' http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome 'hypotonia-cystinuria syndrome' SubClassOf 'inborn disorder of amino acid transport' 'hypotonia-cystinuria syndrome' SubClassOf 'syndromic disease' 'hypotonia-cystinuria syndrome' SubClassOf 'inborn mitochondrial metabolism disorder' 'hypotonia-cystinuria syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' 'hypotonia-cystinuria syndrome' SubClassOf 'inborn disorder of amino acid transport' 'hypotonia-cystinuria syndrome' SubClassOf 'syndromic disease' 'hypotonia-cystinuria syndrome' SubClassOf 'inborn mitochondrial metabolism disorder' 'hypotonia-cystinuria syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0011667 maturity-onset diabetes of the young type 4 'maturity-onset diabetes of the young type 4' SubClassOf 'maturity-onset diabetes of the young' 'maturity-onset diabetes of the young type 4' SubClassOf 'maturity-onset diabetes of the young' http://purl.obolibrary.org/obo/MONDO_0011668 maturity-onset diabetes of the young type 6 'maturity-onset diabetes of the young type 6' SubClassOf 'maturity-onset diabetes of the young' 'maturity-onset diabetes of the young type 6' SubClassOf 'maturity-onset diabetes of the young' http://purl.obolibrary.org/obo/MONDO_0011661 inflammatory bowel disease 5 'inflammatory bowel disease 5' SubClassOf 'inflammatory bowel disease' 'inflammatory bowel disease 5' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0011663 juvenile primary lateral sclerosis 'juvenile primary lateral sclerosis' SubClassOf 'lateral sclerosis' 'juvenile primary lateral sclerosis' SubClassOf 'lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0011664 immunodeficiency due to CD25 deficiency 'immunodeficiency due to CD25 deficiency' SubClassOf 'immunodeficiency disease' 'immunodeficiency due to CD25 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0021002 syndactyly 'syndactyly' SubClassOf 'disorder of development or morphogenesis' 'syndactyly' SubClassOf 'genetic disorder' 'syndactyly' SubClassOf 'skeletal system disease' 'syndactyly' SubClassOf 'disorder of development or morphogenesis' 'syndactyly' SubClassOf 'genetic disorder' 'syndactyly' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0021003 polydactyly 'polydactyly' SubClassOf 'skeletal system disease' 'polydactyly' SubClassOf 'disorder of development or morphogenesis' 'polydactyly' SubClassOf 'genetic disorder' 'polydactyly' SubClassOf 'skeletal system disease' 'polydactyly' SubClassOf 'disorder of development or morphogenesis' 'polydactyly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021004 brachydactyly 'brachydactyly' SubClassOf 'skeletal system disease' 'brachydactyly' SubClassOf 'genetic disorder' 'brachydactyly' SubClassOf 'disorder of development or morphogenesis' 'brachydactyly' SubClassOf 'skeletal system disease' 'brachydactyly' SubClassOf 'genetic disorder' 'brachydactyly' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0021005 faciodigitogenital syndrome 'faciodigitogenital syndrome' SubClassOf 'syndromic disease' 'faciodigitogenital syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011679 craniosynostosis syndrome, autosomal recessive 'craniosynostosis syndrome, autosomal recessive' SubClassOf 'craniosynostosis' 'craniosynostosis syndrome, autosomal recessive' SubClassOf 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0011671 Huntington disease-like 2 'Huntington disease-like 2' SubClassOf 'neuroacanthocytosis' 'Huntington disease-like 2' SubClassOf 'neuroacanthocytosis' http://purl.obolibrary.org/obo/MONDO_0011676 PHACE syndrome 'PHACE syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'PHACE syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'PHACE syndrome' SubClassOf 'heart disease' 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'PHACE syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'PHACE syndrome' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0011674 Charcot-Marie-Tooth disease dominant intermediate B 'Charcot-Marie-Tooth disease dominant intermediate B' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease dominant intermediate B' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0011675 Charcot-Marie-Tooth Disease, axonal, type 2GG 'Charcot-Marie-Tooth Disease, axonal, type 2GG' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth Disease, axonal, type 2GG' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0021009 salivary gland mucoepidermoid carcinoma 'salivary gland mucoepidermoid carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland mucoepidermoid carcinoma' SubClassOf 'salivary gland carcinoma' http://purl.obolibrary.org/obo/MONDO_0011683 oculocutaneous albinism type 4 'oculocutaneous albinism type 4' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 4' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf 'inherited disease susceptibility' 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf 'predisposes towards' some 'type II hypersensitivity reaction disease' 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf 'inherited disease susceptibility' 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0011681 episodic ataxia type 4 'episodic ataxia type 4' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 4' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0011682 episodic ataxia type 3 'episodic ataxia type 3' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 3' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0011687 Charcot-Marie-Tooth disease axonal type 2F 'Charcot-Marie-Tooth disease axonal type 2F' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2F' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011688 muscular dystrophy-dystroglycanopathy type B5 'muscular dystrophy-dystroglycanopathy type B5' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy type B5' SubClassOf 'myopathy caused by variation in FKRP' 'muscular dystrophy-dystroglycanopathy type B5' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy type B5' SubClassOf 'myopathy caused by variation in FKRP' http://purl.obolibrary.org/obo/MONDO_0011685 polysubstance abuse, susceptibility to 'polysubstance abuse, susceptibility to' SubClassOf 'predisposes towards' some 'drug dependence' 'polysubstance abuse, susceptibility to' SubClassOf 'inherited disease susceptibility' 'polysubstance abuse, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'drug dependence' 'polysubstance abuse, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0011686 DNA ligase IV deficiency 'DNA ligase IV deficiency' SubClassOf 'disorder of development or morphogenesis' 'DNA ligase IV deficiency' SubClassOf 'syndromic disease' 'DNA ligase IV deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'DNA ligase IV deficiency' SubClassOf 'disorder of development or morphogenesis' 'DNA ligase IV deficiency' SubClassOf 'syndromic disease' 'DNA ligase IV deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0021020 Crigler-Najjar syndrome type 1 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia 'hereditary hyperekplexia' SubClassOf 'hyperekplexia' 'hereditary hyperekplexia' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' 'hereditary hyperekplexia' SubClassOf 'hyperekplexia' 'hereditary hyperekplexia' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' http://purl.obolibrary.org/obo/MONDO_0021023 complete androgen insensitivity syndrome 'complete androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' 'complete androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0021024 malaria, susceptibility to 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malaria') 'malaria, susceptibility to' SubClassOf 'predisposes towards' some 'malaria' 'malaria, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malaria' 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malaria') http://purl.obolibrary.org/obo/MONDO_0021026 hereditary epidermal appendage anomaly 'hereditary epidermal appendage anomaly' SubClassOf 'skin disease' 'hereditary epidermal appendage anomaly' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0011694 spinocerebellar ataxia type 15/16 'spinocerebellar ataxia type 15/16' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 15/16' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'syndromic disease' 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0060631 Alkuraya-Kucinskas syndrome 'Alkuraya-Kucinskas syndrome' SubClassOf 'genetic disorder' 'Alkuraya-Kucinskas syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011698 glycine N-methyltransferase deficiency 'glycine N-methyltransferase deficiency' SubClassOf 'disorder of methionine catabolism' 'glycine N-methyltransferase deficiency' SubClassOf 'disorder of methionine catabolism' http://purl.obolibrary.org/obo/MONDO_0021029 hereditary sebaceous gland anomaly 'hereditary sebaceous gland anomaly' SubClassOf 'hereditary epidermal appendage anomaly' 'hereditary sebaceous gland anomaly' SubClassOf 'hereditary epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 'choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'syndromic disease' 'choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0021017 synaptopathy 'synaptopathy' SubClassOf 'nervous system disease' 'synaptopathy' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0021018 autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) 'autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0021019 X-linked recessive ocular albinism 'X-linked recessive ocular albinism' SubClassOf 'GPR143-related foveal hypoplasia' 'X-linked recessive ocular albinism' SubClassOf 'ocular albinism' 'X-linked recessive ocular albinism' SubClassOf 'albinism' 'X-linked recessive ocular albinism' SubClassOf 'GPR143-related foveal hypoplasia' 'X-linked recessive ocular albinism' SubClassOf 'ocular albinism' 'X-linked recessive ocular albinism' SubClassOf 'albinism' http://purl.obolibrary.org/obo/MONDO_0060627 glycosylphosphatidylinositol biosynthesis defect 15 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disorder of GPI anchor biosynthesis' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disorder of GPI anchor biosynthesis' http://purl.obolibrary.org/obo/MONDO_0021043 mixed neoplasm 'mixed neoplasm' SubClassOf 'neoplasm' 'mixed neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021046 breast fibroepithelial neoplasm 'breast fibroepithelial neoplasm' SubClassOf 'fibroepithelial neoplasm' 'breast fibroepithelial neoplasm' SubClassOf 'breast neoplasm' 'breast fibroepithelial neoplasm' SubClassOf 'fibroepithelial neoplasm' 'breast fibroepithelial neoplasm' SubClassOf 'breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0021047 breast phyllodes tumor 'breast phyllodes tumor' SubClassOf 'breast fibroepithelial neoplasm' 'breast phyllodes tumor' SubClassOf 'phyllodes tumor' 'breast phyllodes tumor' SubClassOf 'breast fibroepithelial neoplasm' 'breast phyllodes tumor' SubClassOf 'phyllodes tumor' http://purl.obolibrary.org/obo/MONDO_0021048 benign mastocytoma 'benign mastocytoma' SubClassOf 'mastocytoma' 'benign mastocytoma' SubClassOf 'mastocytoma' http://purl.obolibrary.org/obo/MONDO_0021049 vulvar neoplasm 'vulvar neoplasm' SubClassOf 'vulvar disease' 'vulvar neoplasm' SubClassOf 'female reproductive system neoplasm' 'vulvar neoplasm' SubClassOf 'vulvar disease' 'vulvar neoplasm' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021041 pleural solitary fibrous tumor 'pleural solitary fibrous tumor' SubClassOf 'pleural neoplasm' 'pleural solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' 'pleural solitary fibrous tumor' SubClassOf 'pleural neoplasm' 'pleural solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' http://purl.obolibrary.org/obo/MONDO_0060611 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 'combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia' SubClassOf 'genetic disorder' 'combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021032 herpes zoster with dermatitis of eyelid 'herpes zoster with dermatitis of eyelid' SubClassOf 'herpes zoster dermatitis' 'herpes zoster with dermatitis of eyelid' SubClassOf 'herpes zoster dermatitis' http://purl.obolibrary.org/obo/MONDO_0021033 herpes zoster dermatitis 'herpes zoster dermatitis' SubClassOf 'skin infection' 'herpes zoster dermatitis' SubClassOf 'skin infection' http://purl.obolibrary.org/obo/MONDO_0021036 keratosis pilaris 'keratosis pilaris' SubClassOf 'skin disease' 'keratosis pilaris' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0021038 Ewing sarcoma/peripheral primitive neuroectodermal tumor 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' SubClassOf 'embryonal neoplasm' 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' SubClassOf 'embryonal neoplasm' http://purl.obolibrary.org/obo/MONDO_0035678 Timothy syndrome type 1 'Timothy syndrome type 1' SubClassOf 'Timothy syndrome, classic type' 'Timothy syndrome type 1' SubClassOf 'Timothy syndrome, classic type' http://purl.obolibrary.org/obo/MONDO_0021064 jugulotympanic paraganglioma 'jugulotympanic paraganglioma' EquivalentTo 'parasympathetic paraganglioma' and ('disease has location' some 'basicranium') 'jugulotympanic paraganglioma' SubClassOf 'Head and Neck Paraganglioma' 'jugulotympanic paraganglioma' SubClassOf 'parasympathetic paraganglioma' 'jugulotympanic paraganglioma' SubClassOf 'Head and Neck Paraganglioma' 'jugulotympanic paraganglioma' EquivalentTo 'parasympathetic paraganglioma' and ('disease has location' some 'basicranium') 'jugulotympanic paraganglioma' SubClassOf 'parasympathetic paraganglioma' http://purl.obolibrary.org/obo/MONDO_0021065 pleural neoplasm 'pleural neoplasm' SubClassOf 'pleural disorder' 'pleural neoplasm' SubClassOf 'pleural disorder' http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm 'urinary system neoplasm' SubClassOf 'neoplasm' 'urinary system neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021067 mediastinal germ cell tumor 'mediastinal germ cell tumor' SubClassOf 'neoplasm of mediastinum' 'mediastinal germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'mediastinal germ cell tumor' SubClassOf 'neoplasm of mediastinum' 'mediastinal germ cell tumor' SubClassOf 'extragonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm 'malignant endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'malignant endocrine neoplasm' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021063 malignant colon neoplasm 'malignant colon neoplasm' SubClassOf 'colonic neoplasm' 'malignant colon neoplasm' SubClassOf 'colorectal cancer' 'malignant colon neoplasm' SubClassOf 'colonic neoplasm' 'malignant colon neoplasm' SubClassOf 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0045034 infectious disease characteristic 'infectious disease characteristic' SubClassOf 'disease characteristic' 'infectious disease characteristic' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0021053 carotid body paraganglioma 'carotid body paraganglioma' SubClassOf 'parasympathetic paraganglioma' 'carotid body paraganglioma' SubClassOf 'Head and Neck Paraganglioma' 'carotid body paraganglioma' SubClassOf 'parasympathetic paraganglioma' 'carotid body paraganglioma' SubClassOf 'Head and Neck Paraganglioma' http://purl.obolibrary.org/obo/MONDO_0021054 bone sarcoma 'bone sarcoma' SubClassOf 'Malignant Bone Neoplasm' 'bone sarcoma' SubClassOf 'sarcoma' 'bone sarcoma' SubClassOf 'Malignant Bone Neoplasm' 'bone sarcoma' SubClassOf 'sarcoma' http://purl.obolibrary.org/obo/MONDO_0021055 classic familial adenomatous polyposis 'classic familial adenomatous polyposis' SubClassOf 'classic or attenuated familial adenomatous polyposis' 'classic familial adenomatous polyposis' SubClassOf 'classic or attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0045040 locational disease characteristic 'locational disease characteristic' SubClassOf 'disease characteristic' 'locational disease characteristic' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 'familial adenomatous polyposis 1' SubClassOf 'classic familial adenomatous polyposis' 'familial adenomatous polyposis 1' SubClassOf 'attenuated familial adenomatous polyposis' 'familial adenomatous polyposis 1' SubClassOf 'classic familial adenomatous polyposis' 'familial adenomatous polyposis 1' SubClassOf 'attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0021057 classic or attenuated familial adenomatous polyposis 'classic or attenuated familial adenomatous polyposis' SubClassOf 'intestinal polyposis syndrome' 'classic or attenuated familial adenomatous polyposis' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome 'neoplastic syndrome' SubClassOf 'disease has major feature' some 'neoplasm' 'neoplastic syndrome' SubClassOf 'syndromic disease' 'neoplastic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'neoplasm') 'neoplastic syndrome' SubClassOf 'neoplastic disease or syndrome' 'neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'neoplasm' 'neoplastic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'neoplasm') 'neoplastic syndrome' SubClassOf 'syndromic disease' 'neoplastic syndrome' SubClassOf 'neoplastic disease or syndrome' http://purl.obolibrary.org/obo/MONDO_0045048 toxemia of pregnancy 'toxemia of pregnancy' SubClassOf 'hypertension, pregnancy-induced' 'toxemia of pregnancy' SubClassOf 'hypertension, pregnancy-induced' http://purl.obolibrary.org/obo/MONDO_0021052 parasympathetic paraganglioma 'parasympathetic paraganglioma' SubClassOf 'Paraganglioma' 'parasympathetic paraganglioma' EquivalentTo 'Paraganglioma' and ('disease has location' some 'parasympathetic nervous system') 'parasympathetic paraganglioma' SubClassOf 'Paraganglioma' 'parasympathetic paraganglioma' EquivalentTo 'Paraganglioma' and ('disease has location' some 'parasympathetic nervous system') http://purl.obolibrary.org/obo/MONDO_0060663 congenital heart defects, multiple types, 5 'congenital heart defects, multiple types, 5' SubClassOf 'GATA5-related congenital heart defects' 'congenital heart defects, multiple types, 5' SubClassOf 'congenital heart defects, multiple types' 'congenital heart defects, multiple types, 5' SubClassOf 'GATA5-related congenital heart defects' 'congenital heart defects, multiple types, 5' SubClassOf 'congenital heart defects, multiple types' http://purl.obolibrary.org/obo/MONDO_0060666 hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 'hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome' SubClassOf 'genetic disorder' 'hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021086 gingival neoplasm 'gingival neoplasm' SubClassOf 'gingival disease' 'gingival neoplasm' SubClassOf 'gingival disease' http://purl.obolibrary.org/obo/MONDO_0021089 peripheral nervous system cancer 'peripheral nervous system cancer' SubClassOf 'tumour of cranial and spinal nerves' 'peripheral nervous system cancer' SubClassOf 'nervous system cancer' 'peripheral nervous system cancer' SubClassOf 'tumour of cranial and spinal nerves' 'peripheral nervous system cancer' SubClassOf 'nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0045017 cholesterol biosynthetic process disease 'cholesterol biosynthetic process disease' SubClassOf 'cholesterol metabolism disease' 'cholesterol biosynthetic process disease' SubClassOf 'cholesterol metabolism disease' http://purl.obolibrary.org/obo/MONDO_0045018 creatine biosynthetic process disease 'creatine biosynthetic process disease' SubClassOf 'amino acid metabolism disease' 'creatine biosynthetic process disease' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm 'blood vessel neoplasm' SubClassOf 'vascular neoplasm' 'blood vessel neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'blood vessel') 'blood vessel neoplasm' SubClassOf 'vascular neoplasm' 'blood vessel neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'blood vessel') http://purl.obolibrary.org/obo/MONDO_0045016 cholesterol catabolic process disease 'cholesterol catabolic process disease' SubClassOf 'cholesterol metabolism disease' 'cholesterol catabolic process disease' SubClassOf 'cholesterol metabolism disease' http://purl.obolibrary.org/obo/MONDO_0021081 anti-NMDA receptor encephalitis 'anti-NMDA receptor encephalitis' SubClassOf 'encephalitis' 'anti-NMDA receptor encephalitis' SubClassOf 'antibody mediated epilepsy' 'anti-NMDA receptor encephalitis' SubClassOf 'encephalitis' 'anti-NMDA receptor encephalitis' SubClassOf 'antibody mediated epilepsy' http://purl.obolibrary.org/obo/MONDO_0045012 steroid metabolism disease 'steroid metabolism disease' SubClassOf 'metabolic disease' 'steroid metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0060650 Leber congenital amaurosis with early-onset deafness 'Leber congenital amaurosis with early-onset deafness' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis with early-onset deafness' SubClassOf 'Leber congenital amaurosis' http://purl.obolibrary.org/obo/MONDO_0021075 neoplastic polyp 'neoplastic polyp' SubClassOf 'precancerous condition' 'neoplastic polyp' SubClassOf 'polyp' 'neoplastic polyp' SubClassOf 'precancerous condition' 'neoplastic polyp' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0021076 pancreatic exocrine neoplasm 'pancreatic exocrine neoplasm' SubClassOf 'pancreatic neoplasm' 'pancreatic exocrine neoplasm' SubClassOf 'pancreatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0021077 cystic neoplasm 'cystic neoplasm' SubClassOf 'neoplasm' 'cystic neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021078 glandular papilloma 'glandular papilloma' SubClassOf 'papilloma' 'glandular papilloma' EquivalentTo 'papilloma' and 'glandular cell neoplasm' 'glandular papilloma' SubClassOf 'glandular cell neoplasm' 'glandular papilloma' SubClassOf 'papilloma' 'glandular papilloma' EquivalentTo 'papilloma' and 'glandular cell neoplasm' 'glandular papilloma' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0021079 childhood neoplasm 'childhood neoplasm' SubClassOf 'neoplasm' 'childhood neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0021070 sublingual gland carcinoma 'sublingual gland carcinoma' SubClassOf 'sublingual gland cancer' 'sublingual gland carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' 'sublingual gland carcinoma' SubClassOf 'sublingual gland cancer' 'sublingual gland carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' http://purl.obolibrary.org/obo/MONDO_0021072 sympathetic paraganglioma 'sympathetic paraganglioma' SubClassOf 'Paraganglioma' 'sympathetic paraganglioma' SubClassOf 'epithelial neoplasm' 'sympathetic paraganglioma' SubClassOf 'Paraganglioma' 'sympathetic paraganglioma' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0045022 disorder of organic acid metabolism 'disorder of organic acid metabolism' SubClassOf 'metabolic disease' 'disorder of organic acid metabolism' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0021073 paraneoplastic syndrome 'paraneoplastic syndrome' SubClassOf 'cancer-related condition' 'paraneoplastic syndrome' SubClassOf 'syndromic disease' 'paraneoplastic syndrome' SubClassOf 'cancer-related condition' 'paraneoplastic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0021074 precancerous condition 'precancerous condition' SubClassOf 'cancer or benign tumor' 'precancerous condition' SubClassOf 'cancer or benign tumor' http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process 'cobalamin metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://www.ebi.ac.uk/efo/EFO_0009406 glucose metabolism disease 'glucose metabolism disease' SubClassOf 'metabolic disease' 'glucose metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0060457 autoinflammation with arthritis and dyskeratosis 'autoinflammation with arthritis and dyskeratosis' SubClassOf 'genetic disorder' 'autoinflammation with arthritis and dyskeratosis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009425 Yersinia pestis infectious disease 'Yersinia pestis infectious disease' SubClassOf 'vector-borne disease' 'Yersinia pestis infectious disease' SubClassOf 'primary bacterial infectious disease' 'Yersinia pestis infectious disease' SubClassOf 'vector-borne disease' 'Yersinia pestis infectious disease' SubClassOf 'primary bacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0800180 CPOX-related hereditary coproporphyria 'CPOX-related hereditary coproporphyria' SubClassOf 'inherited porphyria' 'CPOX-related hereditary coproporphyria' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0800181 OPA1-related optic atrophy with or without extraocular features 'OPA1-related optic atrophy with or without extraocular features' SubClassOf 'inborn mitochondrial metabolism disorder' 'OPA1-related optic atrophy with or without extraocular features' SubClassOf 'hereditary optic neuropathy' 'OPA1-related optic atrophy with or without extraocular features' SubClassOf 'inborn mitochondrial metabolism disorder' 'OPA1-related optic atrophy with or without extraocular features' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0800183 PAX6-related ocular dysgenesis 'PAX6-related ocular dysgenesis' SubClassOf 'SMARCB1-deficient kidney medullary carcinoma' 'PAX6-related ocular dysgenesis' SubClassOf 'SMARCB1-deficient kidney medullary carcinoma' http://purl.obolibrary.org/obo/MONDO_0800174 encephalitis, acute, infection-induced, susceptibility to 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'encephalopathy, acute, infection-induced') 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf 'inherited disease susceptibility' 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf 'predisposes towards' some 'encephalopathy, acute, infection-induced' 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'encephalopathy, acute, infection-induced') 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'encephalopathy, acute, infection-induced' 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0800166 Knobloch syndrome 'Knobloch syndrome' SubClassOf 'vitreoretinal degeneration' 'Knobloch syndrome' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0800167 Knobloch syndrome 1 'Knobloch syndrome 1' SubClassOf 'Knobloch syndrome' 'Knobloch syndrome 1' SubClassOf 'Knobloch syndrome' http://www.ebi.ac.uk/efo/EFO_0009441 Waldenstrom macroglobulinemia 'Waldenstrom macroglobulinemia' SubClassOf 'lymphoplasmacytic lymphoma' 'Waldenstrom macroglobulinemia' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' 'Waldenstrom macroglobulinemia' SubClassOf 'lymphoplasmacytic lymphoma' 'Waldenstrom macroglobulinemia' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' http://www.ebi.ac.uk/efo/EFO_0009448 pulmonary fibrosis 'pulmonary fibrosis' SubClassOf 'interstitial lung disease' 'pulmonary fibrosis' SubClassOf 'interstitial lung disease' http://www.ebi.ac.uk/efo/EFO_0009449 keratitis 'keratitis' SubClassOf 'corneal disease' 'keratitis' SubClassOf 'inflammatory disease' 'keratitis' SubClassOf 'corneal disease' 'keratitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0009450 conjunctivitis 'conjunctivitis' SubClassOf 'Conjunctival Disorder' 'conjunctivitis' SubClassOf 'inflammatory disease' 'conjunctivitis' SubClassOf 'Conjunctival Disorder' 'conjunctivitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0009433 lower respiratory tract disease 'lower respiratory tract disease' SubClassOf 'respiratory system disease' 'lower respiratory tract disease' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0009430 neuralgia 'neuralgia' EquivalentTo 'peripheral neuropathy' and ('disease has major feature' some 'Pain') 'neuralgia' SubClassOf 'neurological pain disorder' 'neuralgia' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Pain') 'neuralgia' SubClassOf 'neurological pain disorder' http://www.ebi.ac.uk/efo/EFO_0009431 intestinal disease 'intestinal disease' SubClassOf 'digestive system disease' 'intestinal disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0800195 achalasia-alacrima syndrome 'achalasia-alacrima syndrome' SubClassOf 'syndromic disease' 'achalasia-alacrima syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0800188 malignant hyperthermia, susceptibility to 'malignant hyperthermia, susceptibility to' SubClassOf 'inherited disease susceptibility' 'malignant hyperthermia, susceptibility to' SubClassOf 'inherited disease susceptibility' http://www.ebi.ac.uk/efo/EFO_0009464 corneal disease 'corneal disease' SubClassOf 'eye disease' 'corneal disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant 'hyper-IgE recurrent infection syndrome 4A, autosomal dominant' SubClassOf 'hyper-IgE syndrome' 'hyper-IgE recurrent infection syndrome 4A, autosomal dominant' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0800132 autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency 'autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency' SubClassOf 'genetic disorder' 'autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009455 lacrimal apparatus disease 'lacrimal apparatus disease' SubClassOf 'eye disease' 'lacrimal apparatus disease' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0009456 exfoliative dermatitis 'exfoliative dermatitis' SubClassOf 'dermatitis' 'exfoliative dermatitis' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_0009451 hypoparathyroidism 'hypoparathyroidism' SubClassOf 'parathyroid disease' 'hypoparathyroidism' SubClassOf 'parathyroid disease' http://www.ebi.ac.uk/efo/EFO_0009452 hyperaldosteronism 'hyperaldosteronism' SubClassOf 'adrenal gland hyperfunction' 'hyperaldosteronism' SubClassOf 'adrenal gland hyperfunction' http://www.ebi.ac.uk/efo/EFO_0009453 hemiplegia 'hemiplegia' SubClassOf 'palsy' 'hemiplegia' SubClassOf 'palsy' http://www.ebi.ac.uk/efo/EFO_0009454 gastric ulcer 'gastric ulcer' SubClassOf 'stomach disease' 'gastric ulcer' SubClassOf 'peptic ulcer disease' 'gastric ulcer' SubClassOf 'stomach disease' 'gastric ulcer' SubClassOf 'peptic ulcer disease' http://purl.obolibrary.org/obo/MONDO_0800130 autoinflammatory syndrome with immunodeficiency 'autoinflammatory syndrome with immunodeficiency' SubClassOf 'autoinflammatory syndrome' 'autoinflammatory syndrome with immunodeficiency' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0800129 autoinflammatory disease, X-linked 'autoinflammatory disease, X-linked' SubClassOf 'autoinflammatory syndrome' 'autoinflammatory disease, X-linked' SubClassOf 'autoinflammatory syndrome' http://www.ebi.ac.uk/efo/EFO_0009488 spinal cord disease 'spinal cord disease' SubClassOf 'central nervous system disease' 'spinal cord disease' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009489 cranial nerve palsy 'cranial nerve palsy' SubClassOf 'cranial nerve neuropathy' 'cranial nerve palsy' SubClassOf 'cranial nerve neuropathy' http://www.ebi.ac.uk/efo/EFO_0009484 uterine polyp 'uterine polyp' SubClassOf 'uterine disorder' 'uterine polyp' SubClassOf 'polyp' 'uterine polyp' SubClassOf 'uterine disorder' 'uterine polyp' SubClassOf 'polyp' http://www.ebi.ac.uk/efo/EFO_0009487 nerve compression syndrome 'nerve compression syndrome' SubClassOf 'peripheral neuropathy' 'nerve compression syndrome' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0800153 urea cycle disorder or inherited hyperammonemia 'urea cycle disorder or inherited hyperammonemia' SubClassOf 'disease has major feature' some 'Hyperammonemia' 'urea cycle disorder or inherited hyperammonemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperammonemia' http://purl.obolibrary.org/obo/MONDO_0800159 disorder of polyamine metabolism 'disorder of polyamine metabolism' SubClassOf 'disorder of peptide and amine metabolism' 'disorder of polyamine metabolism' SubClassOf 'disorder of peptide and amine metabolism' http://www.ebi.ac.uk/efo/EFO_0009491 adrenocortical insufficiency 'adrenocortical insufficiency' SubClassOf 'adrenal cortex disorder' 'adrenocortical insufficiency' SubClassOf 'adrenal cortex disorder' http://www.ebi.ac.uk/efo/EFO_0009490 nervous system injury 'nervous system injury' SubClassOf 'injury' 'nervous system injury' SubClassOf 'nervous system disease' 'nervous system injury' SubClassOf 'injury' 'nervous system injury' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009477 vertebral joint disease 'vertebral joint disease' SubClassOf 'vertebral column disorder' 'vertebral joint disease' SubClassOf 'joint disease' 'vertebral joint disease' SubClassOf 'vertebral column disorder' 'vertebral joint disease' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_0009478 vocal cord polyp 'vocal cord polyp' SubClassOf 'polyp' 'vocal cord polyp' SubClassOf 'polyp' http://www.ebi.ac.uk/efo/EFO_0009475 cervical polyp 'cervical polyp' SubClassOf 'cervix disorder' 'cervical polyp' SubClassOf 'uterine polyp' 'cervical polyp' SubClassOf 'cervix disorder' 'cervical polyp' SubClassOf 'uterine polyp' http://purl.obolibrary.org/obo/MONDO_0800152 disorder of galactose and fructose metabolism 'disorder of galactose and fructose metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorder of galactose and fructose metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' http://www.ebi.ac.uk/efo/EFO_0009481 paranasal sinus disease 'paranasal sinus disease' SubClassOf 'nasal disorder' 'paranasal sinus disease' SubClassOf 'nasal disorder' http://www.ebi.ac.uk/efo/EFO_0009482 drug allergy 'drug allergy' SubClassOf 'allergic disease' 'drug allergy' SubClassOf 'allergic disease' http://purl.obolibrary.org/obo/MONDO_0800113 necrotizing vasculitis 'necrotizing vasculitis' SubClassOf 'vasculitis' 'necrotizing vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0800101 NMNAT1-related retinopathy 'NMNAT1-related retinopathy' SubClassOf 'inherited retinal dystrophy' 'NMNAT1-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0800104 immunodeficiency 105 'immunodeficiency 105' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 105' SubClassOf 'familial severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011504 NDE1-related microhydranencephaly 'NDE1-related microhydranencephaly' SubClassOf 'microcephaly with lissencephaly and/or hydranencephaly' 'NDE1-related microhydranencephaly' SubClassOf 'microcephaly with lissencephaly and/or hydranencephaly' http://purl.obolibrary.org/obo/MONDO_0011505 familial hypobetalipoproteinemia 2 'familial hypobetalipoproteinemia 2' SubClassOf 'hypobetalipoproteinemia' 'familial hypobetalipoproteinemia 2' SubClassOf 'hypobetalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0011506 familial infantile myoclonic epilepsy 'familial infantile myoclonic epilepsy' SubClassOf 'monogenic epilepsy' 'familial infantile myoclonic epilepsy' SubClassOf 'early myoclonic encephalopathy' 'familial infantile myoclonic epilepsy' SubClassOf 'monogenic epilepsy' 'familial infantile myoclonic epilepsy' SubClassOf 'early myoclonic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0011500 Becker nevus syndrome 'Becker nevus syndrome' SubClassOf 'hereditary skin disorder' 'Becker nevus syndrome' SubClassOf 'melanocytic nevus' 'Becker nevus syndrome' SubClassOf 'hereditary skin disorder' 'Becker nevus syndrome' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0011501 wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia 'wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia' SubClassOf 'genetic disorder' 'wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia' SubClassOf 'musculoskeletal system disease' 'wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia' SubClassOf 'genetic disorder' 'wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0011514 tricuspid atresia 'tricuspid atresia' SubClassOf 'congenital heart disease' 'tricuspid atresia' SubClassOf 'congenital tricuspid malformation' 'tricuspid atresia' SubClassOf 'congenital heart disease' 'tricuspid atresia' SubClassOf 'congenital tricuspid malformation' http://purl.obolibrary.org/obo/MONDO_0011517 pseudohyperaldosteronism type 2 'pseudohyperaldosteronism type 2' SubClassOf 'pregnancy disorder' 'pseudohyperaldosteronism type 2' SubClassOf 'pregnancy disorder' http://purl.obolibrary.org/obo/MONDO_0011518 Wiedemann-Steiner syndrome 'Wiedemann-Steiner syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Steiner syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011512 Brooke-Spiegler syndrome 'Brooke-Spiegler syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Brooke-Spiegler syndrome' SubClassOf 'autosomal dominant disease' 'Brooke-Spiegler syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Brooke-Spiegler syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0011510 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'syndromic intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'syndromic intellectual disability' 'Bohring-Opitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011527 Charcot-Marie-Tooth disease type 4E 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'neuropathy, congenital hypomelinating' 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'neuropathy, congenital hypomelinating' 'Charcot-Marie-Tooth disease type 4E' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011524 Dianzani autoimmune lymphoproliferative disease 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'lymphoproliferative syndrome' 'Dianzani autoimmune lymphoproliferative disease' SubClassOf 'lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0011528 hyper-IgM syndrome type 2 'hyper-IgM syndrome type 2' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome type 2' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0011529 spinocerebellar ataxia type 13 'spinocerebellar ataxia type 13' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 13' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011522 hereditary spastic paraplegia 14 'hereditary spastic paraplegia 14' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 14' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011537 macrocephaly-autism syndrome 'macrocephaly-autism syndrome' SubClassOf 'autosomal dominant disease' 'macrocephaly-autism syndrome' SubClassOf 'disorder of development or morphogenesis' 'macrocephaly-autism syndrome' SubClassOf 'autosomal dominant disease' 'macrocephaly-autism syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0011535 split hand-foot malformation 4 'split hand-foot malformation 4' SubClassOf 'split hand-foot malformation' 'split hand-foot malformation 4' SubClassOf 'split hand-foot malformation' http://purl.obolibrary.org/obo/MONDO_0011539 nemaline myopathy 5 'nemaline myopathy 5' SubClassOf 'nemaline myopathy' 'nemaline myopathy 5' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0011530 mesomelic dysplasia, Savarirayan type 'mesomelic dysplasia, Savarirayan type' SubClassOf 'mesomelic dysplasia' 'mesomelic dysplasia, Savarirayan type' SubClassOf 'skeletal dysplasia' 'mesomelic dysplasia, Savarirayan type' SubClassOf 'mesomelic dysplasia' 'mesomelic dysplasia, Savarirayan type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011533 temtamy preaxial brachydactyly syndrome 'temtamy preaxial brachydactyly syndrome' SubClassOf 'syndromic disease' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'autosomal recessive disease' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'skeletal system disease' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'syndromic disease' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'autosomal recessive disease' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0011534 Charcot-Marie-Tooth disease type 4G 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'disorder of glycolysis' 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'disorder of glycolysis' 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011532 hereditary spastic paraplegia 13 'hereditary spastic paraplegia 13' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 13' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011540 spinocerebellar ataxia type 14 'spinocerebellar ataxia type 14' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 14' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011541 dilated cardiomyopathy 1J 'dilated cardiomyopathy 1J' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1J' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011559 benign recurrent intrahepatic cholestasis type 2 'benign recurrent intrahepatic cholestasis type 2' SubClassOf 'benign recurrent intrahepatic cholestasis' 'benign recurrent intrahepatic cholestasis type 2' SubClassOf 'benign recurrent intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0011551 TH-deficient dopa-responsive dystonia 'TH-deficient dopa-responsive dystonia' SubClassOf 'autosomal recessive disease' 'TH-deficient dopa-responsive dystonia' SubClassOf 'disorder of tyrosine metabolism' 'TH-deficient dopa-responsive dystonia' SubClassOf 'tyrosine hydroxylase deficiency' 'TH-deficient dopa-responsive dystonia' SubClassOf 'dopa-responsive dystonia' 'TH-deficient dopa-responsive dystonia' SubClassOf 'autosomal recessive disease' 'TH-deficient dopa-responsive dystonia' SubClassOf 'disorder of tyrosine metabolism' 'TH-deficient dopa-responsive dystonia' SubClassOf 'dopa-responsive dystonia' 'TH-deficient dopa-responsive dystonia' SubClassOf 'tyrosine hydroxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0011555 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf 'dysostosis' 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf 'dysostosis' 'radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 'blepharophimosis-ptosis-epicanthus inversus syndrome type 2' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' 'blepharophimosis-ptosis-epicanthus inversus syndrome type 2' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' http://purl.obolibrary.org/obo/MONDO_0011569 Charcot-Marie-Tooth disease type 2B1 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'laminopathy' 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'laminopathy' 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011565 metabolic syndrome X 'metabolic syndrome X' SubClassOf 'abdominal obesity-metabolic syndrome' 'metabolic syndrome X' SubClassOf 'abdominal obesity-metabolic syndrome' http://purl.obolibrary.org/obo/MONDO_0011579 late-onset retinal degeneration 'late-onset retinal degeneration' SubClassOf 'inherited retinal dystrophy' 'late-onset retinal degeneration' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0011571 deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 'deafness, autosomal dominant 39, with dentinogenesis imperfecta 1' SubClassOf 'dentinogenesis imperfecta type 2' 'deafness, autosomal dominant 39, with dentinogenesis imperfecta 1' SubClassOf 'dentinogenesis imperfecta type 2' http://purl.obolibrary.org/obo/MONDO_0060510 Cohen-Gibson syndrome 'Cohen-Gibson syndrome' SubClassOf 'genetic disorder' 'Cohen-Gibson syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011577 myopathy, proximal, and ophthalmoplegia 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'congenital myopathy' 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'inclusion body myositis' 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'congenital myopathy' 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'inclusion body myositis' http://purl.obolibrary.org/obo/MONDO_0011578 familial papillary thyroid carcinoma with renal papillary neoplasia 'familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'familial nonmedullary thyroid carcinoma' 'familial papillary thyroid carcinoma with renal papillary neoplasia' SubClassOf 'familial nonmedullary thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0011575 cerebrooculonasal syndrome 'cerebrooculonasal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cerebrooculonasal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011576 familial hyperaldosteronism type II 'familial hyperaldosteronism type II' SubClassOf 'familial hyperaldosteronism' 'familial hyperaldosteronism type II' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0011570 Charcot-Marie-Tooth disease type 2B2 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011584 Fanconi anemia complementation group D1 'Fanconi anemia complementation group D1' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group D1' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0011585 autosomal recessive distal spinal muscular atrophy 2 'autosomal recessive distal spinal muscular atrophy 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'autosomal recessive distal spinal muscular atrophy 2' SubClassOf 'spinal muscular atrophy' 'autosomal recessive distal spinal muscular atrophy 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'autosomal recessive distal spinal muscular atrophy 2' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0011582 multiple mitochondrial dysfunctions syndrome 1 'multiple mitochondrial dysfunctions syndrome 1' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 1' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0011583 cerebral amyloid angiopathy, APP-related 'cerebral amyloid angiopathy, APP-related' SubClassOf 'cerebral amyloid angiopathy' 'cerebral amyloid angiopathy, APP-related' SubClassOf 'cerebral amyloid angiopathy' http://purl.obolibrary.org/obo/MONDO_0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0060507 retinal dystrophy with or without macular staphyloma 'retinal dystrophy with or without macular staphyloma' SubClassOf 'genetic disorder' 'retinal dystrophy with or without macular staphyloma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Woolly hair' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'cardioectodermal syndrome' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'ectodermal dysplasia syndrome' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Palmoplantar keratoderma' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'cardioectodermal syndrome' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'ectodermal dysplasia syndrome' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Woolly hair' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0011595 nonsyndromic congenital nail disorder 7 'nonsyndromic congenital nail disorder 7' SubClassOf 'inherited isolated nail anomaly' 'nonsyndromic congenital nail disorder 7' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0011596 dermatitis, atopic, 2 'dermatitis, atopic, 2' SubClassOf 'dermatitis, atopic, susceptibility to' 'dermatitis, atopic, 2' SubClassOf 'dermatitis, atopic, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0011599 birdshot chorioretinopathy 'birdshot chorioretinopathy' SubClassOf 'posterior uveitis' 'birdshot chorioretinopathy' SubClassOf 'posterior uveitis' http://purl.obolibrary.org/obo/MONDO_0060551 cerebellar atrophy, developmental delay, and seizures 'cerebellar atrophy, developmental delay, and seizures' SubClassOf 'genetic disorder' 'cerebellar atrophy, developmental delay, and seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060556 joint laxity, short stature, and myopia 'joint laxity, short stature, and myopia' SubClassOf 'developmental defect during embryogenesis' 'joint laxity, short stature, and myopia' SubClassOf 'syndromic disease' 'joint laxity, short stature, and myopia' SubClassOf 'developmental defect during embryogenesis' 'joint laxity, short stature, and myopia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0060549 congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay 'congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay' SubClassOf 'genetic disorder' 'congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060532 congenital heart defects and skeletal malformations syndrome 'congenital heart defects and skeletal malformations syndrome' SubClassOf 'genetic disorder' 'congenital heart defects and skeletal malformations syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060533 microcephaly, short stature, and limb abnormalities 'microcephaly, short stature, and limb abnormalities' SubClassOf 'genetic disorder' 'microcephaly, short stature, and limb abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060527 maleylacetoacetate isomerase deficiency 'maleylacetoacetate isomerase deficiency' SubClassOf 'genetic disorder' 'maleylacetoacetate isomerase deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/GO_0009107 lipoate biosynthetic process 'lipoate biosynthetic process' SubClassOf 'organic cyclic compound biosynthetic process' http://www.ebi.ac.uk/efo/EFO_0009301 dystonia 28, childhood-onset 'dystonia 28, childhood-onset' SubClassOf 'inherited dystonia' 'dystonia 28, childhood-onset' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0800299 myopathy, congenital, with excess of muscle spindles 'myopathy, congenital, with excess of muscle spindles' SubClassOf 'genetic disorder' 'myopathy, congenital, with excess of muscle spindles' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009324 APOL1 risk genotype carrier status 'APOL1 risk genotype carrier status' SubClassOf 'carrier status' 'APOL1 risk genotype carrier status' SubClassOf 'is_about' some 'chronic kidney disease' 'APOL1 risk genotype carrier status' SubClassOf 'carrier status' 'APOL1 risk genotype carrier status' SubClassOf 'is_about' some 'chronic kidney disease' http://www.ebi.ac.uk/efo/EFO_0009321 diabetic macular edema 'diabetic macular edema' SubClassOf 'diabetic retinopathy' 'diabetic macular edema' SubClassOf 'diabetic retinopathy' http://www.ebi.ac.uk/efo/EFO_0009322 proliferative diabetic retinopathy 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy' 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy' http://www.ebi.ac.uk/efo/EFO_0009313 Linear IgA Dermatosis 'Linear IgA Dermatosis' SubClassOf 'autoimmune bullous skin disease' 'Linear IgA Dermatosis' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_0009314 blood coagulation disease 'blood coagulation disease' SubClassOf 'hematologic disease' 'blood coagulation disease' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_0009315 thrombophilia 'thrombophilia' SubClassOf 'blood coagulation disease' 'thrombophilia' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0800279 epilepsy, idiopathic generalized, susceptibility to, 6 'epilepsy, idiopathic generalized, susceptibility to, 6' SubClassOf 'inherited disease susceptibility' 'epilepsy, idiopathic generalized, susceptibility to, 6' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0800271 epilepsy, juvenile myoclonic, susceptibility to, 6 'epilepsy, juvenile myoclonic, susceptibility to, 6' SubClassOf 'inherited disease susceptibility' 'epilepsy, juvenile myoclonic, susceptibility to, 6' SubClassOf 'inherited disease susceptibility' http://www.ebi.ac.uk/efo/EFO_0009385 familial tumoral calcinosis 'familial tumoral calcinosis' SubClassOf 'integumentary system disease' 'familial tumoral calcinosis' SubClassOf 'calcinosis' 'familial tumoral calcinosis' SubClassOf 'endocrine neoplasm' 'familial tumoral calcinosis' SubClassOf 'integumentary system disease' 'familial tumoral calcinosis' SubClassOf 'calcinosis' 'familial tumoral calcinosis' SubClassOf 'endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0009386 central nervous system disease 'central nervous system disease' SubClassOf 'nervous system disease' 'central nervous system disease' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009387 peripheral nervous system disease 'peripheral nervous system disease' SubClassOf 'nervous system disease' 'peripheral nervous system disease' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0800200 arthrogryposis, distal, type 2B4 'arthrogryposis, distal, type 2B4' SubClassOf 'distal arthrogryposis' 'arthrogryposis, distal, type 2B4' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0800204 calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia 'calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia' SubClassOf 'skeletal dysplasia' 'calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800207 neuropathy, small fiber 'neuropathy, small fiber' SubClassOf 'peripheral neuropathy' 'neuropathy, small fiber' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009383 tumoral calcinosis, hyperphosphatemic, familial, 2 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'familial tumoral calcinosis' 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'familial tumoral calcinosis' http://www.ebi.ac.uk/efo/EFO_0009384 tumoral calcinosis, hyperphosphatemic, familial, 3 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'familial tumoral calcinosis' 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'familial tumoral calcinosis' http://www.ebi.ac.uk/efo/EFO_0009380 facial neuralgia 'facial neuralgia' SubClassOf 'facial nerve disease' 'facial neuralgia' SubClassOf 'facial nerve disease' http://purl.obolibrary.org/obo/MONDO_0800224 amyotrophic lateral sclerosis, susceptibility to, 13 'amyotrophic lateral sclerosis, susceptibility to, 13' SubClassOf 'inherited disease susceptibility' 'amyotrophic lateral sclerosis, susceptibility to, 13' SubClassOf 'inherited disease susceptibility' http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome 'fg syndrome' SubClassOf 'syndromic disease' 'fg syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0010284 hepatobiliary disease 'hepatobiliary disease' SubClassOf 'digestive system disease' 'hepatobiliary disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0800312 wooly hair, autosomal recessive 1, with or without hypotrichosis 'wooly hair, autosomal recessive 1, with or without hypotrichosis' SubClassOf 'isolated familial wooly hair disorder' 'wooly hair, autosomal recessive 1, with or without hypotrichosis' SubClassOf 'isolated familial wooly hair disorder' http://purl.obolibrary.org/obo/MONDO_0011405 poikiloderma with neutropenia 'poikiloderma with neutropenia' SubClassOf 'hereditary poikiloderma' 'poikiloderma with neutropenia' SubClassOf 'constitutional neutropenia' 'poikiloderma with neutropenia' SubClassOf 'hereditary poikiloderma' 'poikiloderma with neutropenia' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0011408 hereditary spastic paraplegia 10 'hereditary spastic paraplegia 10' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 10' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011400 dilated cardiomyopathy 1G 'dilated cardiomyopathy 1G' SubClassOf 'autosomal dominant titinopathy' 'dilated cardiomyopathy 1G' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1G' SubClassOf 'autosomal dominant titinopathy' 'dilated cardiomyopathy 1G' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0800306 epilepsy, progressive myoclonic, 2b 'epilepsy, progressive myoclonic, 2b' SubClassOf 'progressive myoclonus epilepsy' 'epilepsy, progressive myoclonic, 2b' SubClassOf 'Lafora disease' http://purl.obolibrary.org/obo/MONDO_0011417 hemochromatosis type 3 'hemochromatosis type 3' SubClassOf 'hereditary hemochromatosis' 'hemochromatosis type 3' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0011414 Peters anomaly 'Peters anomaly' SubClassOf 'anterior segment dysgenesis' 'Peters anomaly' SubClassOf 'corneal disease' 'Peters anomaly' SubClassOf 'anterior segment dysgenesis' 'Peters anomaly' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0011412 familial encephalopathy with neuroserpin inclusion bodies 'familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'Mendelian encephalopathy' 'familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'progressive myoclonus epilepsy' 'familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'Mendelian encephalopathy' 'familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0011411 Chudley-McCullough syndrome 'Chudley-McCullough syndrome' SubClassOf 'disorder of development or morphogenesis' 'Chudley-McCullough syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0011428 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 'ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3' SubClassOf 'EEC syndrome' 'ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3' SubClassOf 'EEC syndrome' http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia 'aceruloplasminemia' SubClassOf 'disorder of iron metabolism and transport' 'aceruloplasminemia' SubClassOf 'neurodegeneration with brain iron accumulation' 'aceruloplasminemia' SubClassOf 'inherited retinal dystrophy' 'aceruloplasminemia' SubClassOf 'disorder of iron metabolism and transport' 'aceruloplasminemia' SubClassOf 'neurodegeneration with brain iron accumulation' 'aceruloplasminemia' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0011420 short stature due to partial GHR deficiency 'short stature due to partial GHR deficiency' SubClassOf 'growth hormone insensitivity syndrome' 'short stature due to partial GHR deficiency' SubClassOf 'pituitary dwarfism' 'short stature due to partial GHR deficiency' SubClassOf 'growth hormone insensitivity syndrome' 'short stature due to partial GHR deficiency' SubClassOf 'pituitary dwarfism' http://purl.obolibrary.org/obo/MONDO_0011423 autosomal recessive limb-girdle muscular dystrophy type 2E 'autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'qualitative or quantitative defects of beta-sarcoglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2E' SubClassOf 'qualitative or quantitative defects of beta-sarcoglycan' http://purl.obolibrary.org/obo/MONDO_0011424 Carney triad 'Carney triad' SubClassOf 'multiple polyglandular tumor' 'Carney triad' SubClassOf 'neoplastic syndrome' 'Carney triad' SubClassOf 'multiple polyglandular tumor' 'Carney triad' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 1' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 1' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0011422 autosomal recessive proximal renal tubular acidosis 'autosomal recessive proximal renal tubular acidosis' SubClassOf 'proximal renal tubular acidosis' 'autosomal recessive proximal renal tubular acidosis' SubClassOf 'proximal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0011439 spinocerebellar ataxia type 12 'spinocerebellar ataxia type 12' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 12' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'spinal muscular atrophy' 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'spinal muscular atrophy' 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0011430 pulverulent cataract 'pulverulent cataract' SubClassOf 'early-onset non-syndromic cataract' 'pulverulent cataract' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0011432 blepharophimosis - intellectual disability syndrome, Verloes type 'blepharophimosis - intellectual disability syndrome, Verloes type' SubClassOf 'blepharophimosis - intellectual disability syndrome' 'blepharophimosis - intellectual disability syndrome, Verloes type' SubClassOf 'blepharophimosis - intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011449 Salla disease 'Salla disease' SubClassOf 'free sialic acid storage disease' 'Salla disease' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'Salla disease' SubClassOf 'free sialic acid storage disease' 'Salla disease' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0011448 PPARG-related familial partial lipodystrophy 'PPARG-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'PPARG-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 'hereditary spastic paraplegia 11' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 11' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011459 arrhythmogenic right ventricular dysplasia 5 'arrhythmogenic right ventricular dysplasia 5' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 5' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'breast-ovarian cancer, familial, susceptibility to' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'BRCA1-related cancer predisposition' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'breast-ovarian cancer, familial, susceptibility to' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'BRCA1-related cancer predisposition' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hereditary breast ovarian cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 'cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1' SubClassOf 'fatal infantile encephalocardiomyopathy' 'cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1' SubClassOf 'fatal infantile encephalocardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011456 nephronophthisis 3 'nephronophthisis 3' SubClassOf 'nephronophthisis' 'nephronophthisis 3' SubClassOf 'nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0011454 patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 'patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome' SubClassOf 'heart-hand syndrome' 'patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome' SubClassOf 'heart-hand syndrome' http://purl.obolibrary.org/obo/MONDO_0011464 spinocerebellar ataxia type 11 'spinocerebellar ataxia type 11' SubClassOf 'autosomal dominant cerebellar ataxia type III' 'spinocerebellar ataxia type 11' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0011461 generalized epilepsy with febrile seizures plus, type 2 'generalized epilepsy with febrile seizures plus, type 2' SubClassOf 'febrile seizures, familial' 'generalized epilepsy with febrile seizures plus, type 2' SubClassOf 'generalized epilepsy with febrile seizures plus' 'generalized epilepsy with febrile seizures plus, type 2' SubClassOf 'febrile seizures, familial' 'generalized epilepsy with febrile seizures plus, type 2' SubClassOf 'generalized epilepsy with febrile seizures plus' http://purl.obolibrary.org/obo/MONDO_0011462 pyogenic arthritis-pyoderma gangrenosum-acne syndrome 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'autoinflammatory syndrome' 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'immune system disease' 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'autoinflammatory syndrome' 'pyogenic arthritis-pyoderma gangrenosum-acne syndrome' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0011468 hereditary motor and sensory neuropathy, Okinawa type 'hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'motor peripheral neuropathy' 'hereditary motor and sensory neuropathy, Okinawa type' SubClassOf 'motor peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0011466 distal myopathy, Welander type 'distal myopathy, Welander type' SubClassOf 'autosomal dominant distal myopathy' 'distal myopathy, Welander type' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0011475 Charcot-Marie-Tooth disease type 4B2 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B2' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011472 epidermolysis bullosa simplex due to plakophilin deficiency 'epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'suprabasal epidermolysis bullosa simplex' 'epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'ectodermal dysplasia syndrome' 'epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'suprabasal epidermolysis bullosa simplex' 'epidermolysis bullosa simplex due to plakophilin deficiency' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency 'MHC class I deficiency' SubClassOf 'combined immunodeficiency' 'MHC class I deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011486 congenital muscular dystrophy 1B 'congenital muscular dystrophy 1B' SubClassOf 'congenital muscular dystrophy' 'congenital muscular dystrophy 1B' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0011484 catecholaminergic polymorphic ventricular tachycardia 1 'catecholaminergic polymorphic ventricular tachycardia 1' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'catecholaminergic polymorphic ventricular tachycardia 1' SubClassOf 'catecholaminergic polymorphic ventricular tachycardia' 'catecholaminergic polymorphic ventricular tachycardia 1' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'catecholaminergic polymorphic ventricular tachycardia 1' SubClassOf 'catecholaminergic polymorphic ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0011489 hereditary spastic paraplegia 12 'hereditary spastic paraplegia 12' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 12' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011487 Huntington disease-like 3 'Huntington disease-like 3' SubClassOf 'Huntington disease-like syndrome' 'Huntington disease-like 3' SubClassOf 'Huntington disease-like syndrome' http://purl.obolibrary.org/obo/MONDO_0011481 craniosynostosis 2 'craniosynostosis 2' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis 2' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011482 dilated cardiomyopathy 1I 'dilated cardiomyopathy 1I' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1I' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'spondyloepiphyseal dysplasia' 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'type 2 collagenopathy' 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'type 2 collagenopathy' 'mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011497 hereditary North American Indian childhood cirrhosis 'hereditary North American Indian childhood cirrhosis' SubClassOf 'progressive familial intrahepatic cholestasis' 'hereditary North American Indian childhood cirrhosis' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0011493 Stickler syndrome type 2 'Stickler syndrome type 2' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 2' SubClassOf 'Stickler syndrome' http://purl.obolibrary.org/obo/MONDO_0006715 coronary stenosis 'coronary stenosis' SubClassOf 'coronary artery disease' 'coronary stenosis' SubClassOf 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0006751 Erysipelothrix infectious disease 'Erysipelothrix infectious disease' SubClassOf 'gram-positive bacterial infections' 'Erysipelothrix infectious disease' SubClassOf 'gram-positive bacterial infections' http://purl.obolibrary.org/obo/MONDO_0016107 myotonic dystrophy 'myotonic dystrophy' SubClassOf 'myotonic syndrome' 'myotonic dystrophy' SubClassOf 'progressive muscular dystrophy' 'myotonic dystrophy' SubClassOf 'disease disrupts' some 'regulation of RNA splicing' 'myotonic dystrophy' SubClassOf 'myotonic syndrome' 'myotonic dystrophy' SubClassOf 'progressive muscular dystrophy' 'myotonic dystrophy' SubClassOf 'disease disrupts' some 'regulation of RNA splicing' http://purl.obolibrary.org/obo/MONDO_0016108 autosomal dominant distal myopathy 'autosomal dominant distal myopathy' SubClassOf 'distal myopathy' 'autosomal dominant distal myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0016103 isolated asymptomatic elevation of creatine phosphokinase 'isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'qualitative or quantitative defects of dystrophin' 'isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'caveolinopathy' 'isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'qualitative or quantitative defects of dystrophin' 'isolated asymptomatic elevation of creatine phosphokinase' SubClassOf 'caveolinopathy' http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease 'acquired skeletal muscle disease' SubClassOf 'skeletal muscle disorder' 'acquired skeletal muscle disease' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0016106 progressive muscular dystrophy 'progressive muscular dystrophy' SubClassOf 'muscular dystrophy' 'progressive muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0016112 hereditary inclusion-body myopathy 'hereditary inclusion-body myopathy' SubClassOf 'myopathy' 'hereditary inclusion-body myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0016113 bulbospinal muscular atrophy 'bulbospinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'bulbospinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0016129 eosinophilic gastroenteritis 'eosinophilic gastroenteritis' SubClassOf 'eosinophilic gastrointestinal disease' 'eosinophilic gastroenteritis' SubClassOf 'gastroenteritis' 'eosinophilic gastroenteritis' SubClassOf 'eosinophilic gastrointestinal disease' 'eosinophilic gastroenteritis' SubClassOf 'gastroenteritis' http://purl.obolibrary.org/obo/HP_0000066 Labial hypoplasia 'Labial hypoplasia' SubClassOf 'Abnormality of the genital system' 'Labial hypoplasia' SubClassOf http://purl.obolibrary.org/obo/HP_0000055 http://purl.obolibrary.org/obo/MONDO_0016122 periodic paralysis 'periodic paralysis' SubClassOf 'nervous system disease' 'periodic paralysis' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0016120 myotonic syndrome 'myotonic syndrome' SubClassOf 'disease has major feature' some 'Myotonia' 'myotonic syndrome' SubClassOf 'skeletal muscle disorder' 'myotonic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Myotonia') 'myotonic syndrome' SubClassOf 'skeletal muscle disorder' 'myotonic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Myotonia') 'myotonic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Myotonia' http://purl.obolibrary.org/obo/MONDO_0016139 qualitative or quantitative protein defects in neuromuscular diseases 'qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf 'nervous system disease' 'qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0016147 qualitative or quantitative defects of dystrophin 'qualitative or quantitative defects of dystrophin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of dystrophin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016143 qualitative or quantitative defects of gamma-sarcoglycan 'qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'sarcoglycanopathy' 'qualitative or quantitative defects of gamma-sarcoglycan' SubClassOf 'sarcoglycanopathy' http://purl.obolibrary.org/obo/MONDO_0016144 qualitative or quantitative defects of delta-sarcoglycan 'qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'sarcoglycanopathy' 'qualitative or quantitative defects of delta-sarcoglycan' SubClassOf 'sarcoglycanopathy' http://purl.obolibrary.org/obo/MONDO_0016145 qualitative or quantitative defects of dysferlin 'qualitative or quantitative defects of dysferlin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of dysferlin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016146 caveolinopathy 'caveolinopathy' SubClassOf 'muscle tissue disorder' 'caveolinopathy' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'caveolinopathy' SubClassOf 'muscle tissue disorder' 'caveolinopathy' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016140 sarcoglycanopathy 'sarcoglycanopathy' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'sarcoglycanopathy' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016141 qualitative or quantitative defects of alpha-sarcoglycan 'qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'sarcoglycanopathy' 'qualitative or quantitative defects of alpha-sarcoglycan' SubClassOf 'sarcoglycanopathy' http://purl.obolibrary.org/obo/MONDO_0016142 qualitative or quantitative defects of beta-sarcoglycan 'qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'sarcoglycanopathy' 'qualitative or quantitative defects of beta-sarcoglycan' SubClassOf 'sarcoglycanopathy' http://purl.obolibrary.org/obo/MONDO_0016160 X-linked intellectual disability-epilepsy syndrome 'X-linked intellectual disability-epilepsy syndrome' SubClassOf 'monogenic epilepsy' 'X-linked intellectual disability-epilepsy syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-epilepsy syndrome' SubClassOf 'monogenic epilepsy' 'X-linked intellectual disability-epilepsy syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016158 narcolepsy-cataplexy syndrome 'narcolepsy-cataplexy syndrome' SubClassOf 'narcolepsy' 'narcolepsy-cataplexy syndrome' SubClassOf 'brain disease' 'narcolepsy-cataplexy syndrome' SubClassOf 'narcolepsy' 'narcolepsy-cataplexy syndrome' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'qualitative or quantitative defects of alpha-dystroglycan' 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' SubClassOf 'qualitative or quantitative defects of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0016156 qualitative or quantitative defects of FKRP 'qualitative or quantitative defects of FKRP' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'qualitative or quantitative defects of FKRP' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0016151 qualitative or quantitative defects of perlecan 'qualitative or quantitative defects of perlecan' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of perlecan' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016153 qualitative or quantitative defects of TRIM32 'qualitative or quantitative defects of TRIM32' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of TRIM32' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016167 optic pathway glioma 'optic pathway glioma' SubClassOf 'tumor of cranial and spinal nerves' 'optic pathway glioma' SubClassOf 'glioma' 'optic pathway glioma' SubClassOf 'tumor of cranial and spinal nerves' 'optic pathway glioma' SubClassOf 'glioma' http://purl.obolibrary.org/obo/MONDO_0016168 cryopyrin-associated periodic syndrome 'cryopyrin-associated periodic syndrome' SubClassOf 'hereditary periodic fever syndrome' 'cryopyrin-associated periodic syndrome' SubClassOf 'immune system disease' 'cryopyrin-associated periodic syndrome' SubClassOf 'hereditary periodic fever syndrome' 'cryopyrin-associated periodic syndrome' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0016162 bilateral frontal polymicrogyria 'bilateral frontal polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral frontal polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0016163 autosomal dominant cerebellar ataxia type II 'autosomal dominant cerebellar ataxia type II' SubClassOf 'autosomal dominant cerebellar ataxia' 'autosomal dominant cerebellar ataxia type II' SubClassOf 'autosomal dominant cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0004826 anti-neutrophil antibody associated vasculitis 'anti-neutrophil antibody associated vasculitis' SubClassOf 'type II hypersensitivity reaction disease' 'anti-neutrophil antibody associated vasculitis' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0016175 cutis laxa 'cutis laxa' SubClassOf 'developmental defect during embryogenesis' 'cutis laxa' SubClassOf 'congenital entropion' 'cutis laxa' SubClassOf 'integumentary system disease' 'cutis laxa' SubClassOf 'developmental defect during embryogenesis' 'cutis laxa' SubClassOf 'congenital entropion' 'cutis laxa' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0016190 qualitative or quantitative defects of protein ZASP 'qualitative or quantitative defects of protein ZASP' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' 'qualitative or quantitative defects of protein ZASP' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' http://purl.obolibrary.org/obo/MONDO_0016191 qualitative or quantitative defects of titin 'qualitative or quantitative defects of titin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of titin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016192 qualitative or quantitative defects of telethonin 'qualitative or quantitative defects of telethonin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of telethonin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016193 qualitative or quantitative defects of alpha-actin 'qualitative or quantitative defects of alpha-actin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of alpha-actin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016187 qualitative or quantitative defects of desmin 'qualitative or quantitative defects of desmin' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' 'qualitative or quantitative defects of desmin' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' http://purl.obolibrary.org/obo/MONDO_0016188 qualitative or quantitative defects of alphaB-cristallin 'qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' 'qualitative or quantitative defects of alphaB-cristallin' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' http://purl.obolibrary.org/obo/MONDO_0016189 qualitative or quantitative defects of filamin C 'qualitative or quantitative defects of filamin C' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' 'qualitative or quantitative defects of filamin C' SubClassOf 'qualitative or quantitative defects of myofibrillar proteins' http://purl.obolibrary.org/obo/MONDO_0016184 qualitative or quantitative defects of protein O-mannosyltransferase 1 'qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'qualitative or quantitative defects of protein O-mannosyltransferase 1' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0016185 qualitative or quantitative defects of protein O-mannosyltransferase 2 'qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'qualitative or quantitative defects of protein O-mannosyltransferase 2' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0016186 qualitative or quantitative defects of myofibrillar proteins 'qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of myofibrillar proteins' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://www.ebi.ac.uk/efo/EFO_0004720 prion disease 'prion disease' SubClassOf 'central nervous system infection' 'prion disease' SubClassOf 'brain disease' 'prion disease' SubClassOf 'central nervous system infection' 'prion disease' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0016198 qualitative or quantitative defects of plectin 'qualitative or quantitative defects of plectin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of plectin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016199 qualitative or quantitative defects of protein SERCA1 'qualitative or quantitative defects of protein SERCA1' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of protein SERCA1' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016194 qualitative or quantitative defects of nebulin 'qualitative or quantitative defects of nebulin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of nebulin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016195 qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0016197 qualitative or quantitative defects of selenoprotein N1 'qualitative or quantitative defects of selenoprotein N1' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of selenoprotein N1' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://www.ebi.ac.uk/efo/EFO_0004772 early onset hypertension 'early onset hypertension' SubClassOf 'hypertension' 'early onset hypertension' SubClassOf 'hypertension' http://www.ebi.ac.uk/efo/EFO_0004775 toxic epidermal necrolysis 'toxic epidermal necrolysis' SubClassOf 'toxic dermatosis' 'toxic epidermal necrolysis' SubClassOf 'toxic dermatosis' http://www.ebi.ac.uk/efo/EFO_0004776 alcohol and nicotine codependence 'alcohol and nicotine codependence' SubClassOf 'drug dependence' 'alcohol and nicotine codependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0004777 alcohol withdrawal 'alcohol withdrawal' SubClassOf 'substance withdrawal syndrome' 'alcohol withdrawal' SubClassOf 'substance withdrawal syndrome' http://www.ebi.ac.uk/efo/EFO_0004795 skin sensitivity to sun 'skin sensitivity to sun' SubClassOf 'photosensitivity disease' 'skin sensitivity to sun' SubClassOf 'photosensitivity disease' http://www.ebi.ac.uk/efo/EFO_0004799 cholelithiasis 'cholelithiasis' SubClassOf 'bladder disease' 'cholelithiasis' SubClassOf 'bladder disease' http://purl.obolibrary.org/obo/DOID_13406 pulmonary sarcoidosis 'pulmonary sarcoidosis' SubClassOf 'sarcoidosis' 'pulmonary sarcoidosis' SubClassOf 'sarcoidosis' http://purl.obolibrary.org/obo/MONDO_0031615 familial bent bone dysplasia syndrome 'familial bent bone dysplasia syndrome' SubClassOf 'bent bone dysplasia' 'familial bent bone dysplasia syndrome' SubClassOf 'bent bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0031646 Braddock-Carey syndrome 'Braddock-Carey syndrome' SubClassOf 'genetic disorder' 'Braddock-Carey syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016009 fetal trimethadione syndrome 'fetal trimethadione syndrome' SubClassOf 'toxic or drug-related embryofetopathy' 'fetal trimethadione syndrome' SubClassOf 'toxic or drug-related embryofetopathy' http://purl.obolibrary.org/obo/MONDO_0016006 Cockayne syndrome 'Cockayne syndrome' SubClassOf 'progeroid syndrome' 'Cockayne syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0016001 2-hydroxyglutaric aciduria '2-hydroxyglutaric aciduria' SubClassOf 'inborn errors of metabolism' '2-hydroxyglutaric aciduria' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'autosomal recessive disease' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'autosomal recessive disease' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair 'developmental delay with short stature, dysmorphic facial features, and sparse hair' SubClassOf 'genetic disorder' 'developmental delay with short stature, dysmorphic facial features, and sparse hair' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016027 benign neonatal seizures 'benign neonatal seizures' SubClassOf 'neonatal period electroclinical syndrome' 'benign neonatal seizures' SubClassOf 'neonatal epilepsy syndrome' 'benign neonatal seizures' SubClassOf 'neonatal period electroclinical syndrome' 'benign neonatal seizures' SubClassOf 'neonatal epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0016028 erythromelalgia 'erythromelalgia' SubClassOf 'peripheral vascular disease' 'erythromelalgia' SubClassOf 'genetic disorder' 'erythromelalgia' SubClassOf 'peripheral vascular disease' 'erythromelalgia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy 'early myoclonic encephalopathy' SubClassOf 'mitochondrial substrate carrier disorder' 'early myoclonic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' 'early myoclonic encephalopathy' SubClassOf 'neonatal period electroclinical syndrome' 'early myoclonic encephalopathy' SubClassOf 'mitochondrial substrate carrier disorder' 'early myoclonic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' 'early myoclonic encephalopathy' SubClassOf 'neonatal period electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0016024 shoulder and thorax deformity-congenital heart disease syndrome 'shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf 'genetic disorder' 'shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf 'thoracic malformation' 'shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf 'genetic disorder' 'shoulder and thorax deformity-congenital heart disease syndrome' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astatic epilepsy 'myoclonic-astatic epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'myoclonic-astatic epilepsy' SubClassOf 'syndromic disease' 'myoclonic-astatic epilepsy' SubClassOf 'inborn disorder of amino acid transport' 'myoclonic-astatic epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'myoclonic-astatic epilepsy' SubClassOf 'syndromic disease' 'myoclonic-astatic epilepsy' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0016020 frontal encephalocele 'frontal encephalocele' SubClassOf 'isolated encephalocele' 'frontal encephalocele' SubClassOf 'isolated encephalocele' http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cornelia de Lange syndrome' SubClassOf 'genetic disorder' 'Cornelia de Lange syndrome' SubClassOf 'syndromic disease' 'Cornelia de Lange syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cornelia de Lange syndrome' SubClassOf 'genetic disorder' 'Cornelia de Lange syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016030 Evans syndrome 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'Evans syndrome' SubClassOf 'primary thrombocytopenia' 'Evans syndrome' SubClassOf 'syndromic disease' 'Evans syndrome' SubClassOf 'autoimmune thrombocytopenia' 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'Evans syndrome' SubClassOf 'primary thrombocytopenia' 'Evans syndrome' SubClassOf 'autoimmune thrombocytopenia' 'Evans syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016032 femoral agenesis/hypoplasia 'femoral agenesis/hypoplasia' SubClassOf 'non-syndromic limb reduction defect' 'femoral agenesis/hypoplasia' SubClassOf 'dysostosis' 'femoral agenesis/hypoplasia' SubClassOf 'non-syndromic limb reduction defect' 'femoral agenesis/hypoplasia' SubClassOf 'dysostosis' http://www.ebi.ac.uk/efo/EFO_0004710 pelvic organ prolapse 'pelvic organ prolapse' SubClassOf 'reproductive system disease' 'pelvic organ prolapse' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0004711 elephantiasis 'elephantiasis' SubClassOf 'lymphedema' 'elephantiasis' SubClassOf 'lymphedema' http://www.ebi.ac.uk/efo/EFO_0004712 podoconiosis 'podoconiosis' SubClassOf 'elephantiasis' 'podoconiosis' SubClassOf 'elephantiasis' http://www.ebi.ac.uk/efo/EFO_0004718 vascular dementia 'vascular dementia' SubClassOf 'disease has location' some 'brain blood vessel' 'vascular dementia' SubClassOf 'dementia' 'vascular dementia' SubClassOf 'cerebrovascular disorder' 'vascular dementia' SubClassOf 'disease has location' some 'brain blood vessel' 'vascular dementia' SubClassOf 'cerebrovascular disorder' 'vascular dementia' SubClassOf 'dementia' http://www.ebi.ac.uk/efo/EFO_0004715 MRI defined brain infarct 'MRI defined brain infarct' SubClassOf 'brain infarction' 'MRI defined brain infarct' SubClassOf 'brain infarction' http://purl.obolibrary.org/obo/MONDO_0016048 isolated autosomal dominant hypomagnesemia, Glaudemans type 'isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'familial primary hypomagnesemia with normocalcuria' 'isolated autosomal dominant hypomagnesemia, Glaudemans type' SubClassOf 'familial primary hypomagnesemia with normocalcuria' http://purl.obolibrary.org/obo/MONDO_0016049 congenital myopathy, Paradas type 'congenital myopathy, Paradas type' SubClassOf 'qualitative or quantitative defects of dysferlin' 'congenital myopathy, Paradas type' SubClassOf 'congenital muscular dystrophy' 'congenital myopathy, Paradas type' SubClassOf 'qualitative or quantitative defects of dysferlin' 'congenital myopathy, Paradas type' SubClassOf 'congenital muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0004719 pemphigus vulgaris 'pemphigus vulgaris' SubClassOf 'pemphigus' 'pemphigus vulgaris' SubClassOf 'pemphigus' http://purl.obolibrary.org/obo/MONDO_0016044 cleft lip/palate 'cleft lip/palate' SubClassOf 'orofacial cleft' 'cleft lip/palate' SubClassOf 'disorder of development or morphogenesis' 'cleft lip/palate' SubClassOf 'orofacial cleft' 'cleft lip/palate' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016045 tetragametic chimerism 'tetragametic chimerism' SubClassOf 'sex chromosome disorder of sex development' 'tetragametic chimerism' SubClassOf 'sex chromosome disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0016046 familial clubfoot with or without associated lower limb anomalies 'familial clubfoot with or without associated lower limb anomalies' SubClassOf 'congenital limb malformation' 'familial clubfoot with or without associated lower limb anomalies' SubClassOf 'genetic disorder' 'familial clubfoot with or without associated lower limb anomalies' SubClassOf 'congenital limb malformation' 'familial clubfoot with or without associated lower limb anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016047 endophthalmitis 'endophthalmitis' SubClassOf 'inflammatory disease' 'endophthalmitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0016040 harlequin syndrome 'harlequin syndrome' SubClassOf 'autonomic nervous system disease' 'harlequin syndrome' SubClassOf 'autonomic nervous system disease' http://purl.obolibrary.org/obo/MONDO_0016043 isolated cleft lip 'isolated cleft lip' SubClassOf 'disorder of development or morphogenesis' 'isolated cleft lip' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016060 laryngotracheoesophageal cleft 'laryngotracheoesophageal cleft' SubClassOf 'esophageal disease' 'laryngotracheoesophageal cleft' SubClassOf 'tracheal disorder' 'laryngotracheoesophageal cleft' SubClassOf 'esophageal disease' 'laryngotracheoesophageal cleft' SubClassOf 'tracheal disorder' http://www.ebi.ac.uk/efo/EFO_0004701 methamphetamine dependence 'methamphetamine dependence' SubClassOf 'drug dependence' 'methamphetamine dependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0004707 infantile hypertrophic pyloric stenosis 'infantile hypertrophic pyloric stenosis' SubClassOf 'pyloric stenosis' 'infantile hypertrophic pyloric stenosis' SubClassOf 'intestinal disease' 'infantile hypertrophic pyloric stenosis' SubClassOf 'pyloric stenosis' 'infantile hypertrophic pyloric stenosis' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0004705 hypothyroidism 'hypothyroidism' SubClassOf 'thyroid disease' 'hypothyroidism' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/MONDO_0016059 cleft lip/palate-deafness-sacral lipoma syndrome 'cleft lip/palate-deafness-sacral lipoma syndrome' SubClassOf 'syndromic disease' 'cleft lip/palate-deafness-sacral lipoma syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0004708 nodular sclerosis Hodgkin lymphoma 'nodular sclerosis Hodgkin lymphoma' SubClassOf 'classic Hodgkin lymphoma' 'nodular sclerosis Hodgkin lymphoma' SubClassOf 'classic Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0016056 isolated congenital microcephaly 'isolated congenital microcephaly' SubClassOf 'microcephaly' 'isolated congenital microcephaly' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0016057 isolated encephalocele 'isolated encephalocele' SubClassOf 'cephalocele' 'isolated encephalocele' SubClassOf 'cephalocele' http://purl.obolibrary.org/obo/MONDO_0016058 paroxysmal dystonia 'paroxysmal dystonia' SubClassOf 'combined dystonia' 'paroxysmal dystonia' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0016051 cleft lip-retinopathy syndrome 'cleft lip-retinopathy syndrome' SubClassOf 'syndromic disease' 'cleft lip-retinopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cleft lip-retinopathy syndrome' SubClassOf 'syndromic disease' 'cleft lip-retinopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016052 atypical autism 'atypical autism' SubClassOf 'pervasive developmental disorder' 'atypical autism' SubClassOf 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0016070 hereditary gingival fibromatosis 'hereditary gingival fibromatosis' SubClassOf 'gingival overgrowth' 'hereditary gingival fibromatosis' SubClassOf 'disorder of development or morphogenesis' 'hereditary gingival fibromatosis' SubClassOf 'gingival overgrowth' 'hereditary gingival fibromatosis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016071 juvenile hyaline fibromatosis 'juvenile hyaline fibromatosis' SubClassOf 'hyaline fibromatosis syndrome' 'juvenile hyaline fibromatosis' SubClassOf 'Soft Tissue Neoplasm' 'juvenile hyaline fibromatosis' SubClassOf 'hyaline fibromatosis syndrome' 'juvenile hyaline fibromatosis' SubClassOf 'Soft Tissue Neoplasm' http://www.ebi.ac.uk/efo/EFO_0004610 acute lung injury 'acute lung injury' SubClassOf 'injury' 'acute lung injury' SubClassOf 'lung disease' 'acute lung injury' SubClassOf 'injury' 'acute lung injury' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0004616 osteoarthritis, knee 'osteoarthritis, knee' SubClassOf 'osteoarthritis' 'osteoarthritis, knee' SubClassOf 'osteoarthritis' http://purl.obolibrary.org/obo/MONDO_0016067 Crandall syndrome 'Crandall syndrome' SubClassOf 'syndromic disease' 'Crandall syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016068 fibrochondrogenesis 'fibrochondrogenesis' SubClassOf 'osteochondrodysplasia' 'fibrochondrogenesis' SubClassOf 'skeletal dysplasia' 'fibrochondrogenesis' SubClassOf 'osteochondrodysplasia' 'fibrochondrogenesis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016063 Cowden disease 'Cowden disease' SubClassOf 'hereditary skin disorder' 'Cowden disease' SubClassOf 'autosomal dominant disease' 'Cowden disease' SubClassOf 'hereditary skin disorder' 'Cowden disease' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0016064 cleft palate 'cleft palate' SubClassOf 'developmental defect during embryogenesis' 'cleft palate' SubClassOf 'orofacial cleft' 'cleft palate' SubClassOf 'developmental defect during embryogenesis' 'cleft palate' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0016065 cleft palate-short stature-vertebral anomalies syndrome 'cleft palate-short stature-vertebral anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cleft palate-short stature-vertebral anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016083 FLOTCH syndrome 'FLOTCH syndrome' SubClassOf 'subcutaneous tissue disorder' 'FLOTCH syndrome' SubClassOf 'subcutaneous tissue disorder' http://www.ebi.ac.uk/efo/EFO_0004607 duodenal ulcer 'duodenal ulcer' SubClassOf 'peptic ulcer disease' 'duodenal ulcer' SubClassOf 'duodenal disorder' 'duodenal ulcer' SubClassOf 'peptic ulcer disease' 'duodenal ulcer' SubClassOf 'duodenal disorder' http://www.ebi.ac.uk/efo/EFO_0004608 cystic fibrosis associated meconium ileus 'cystic fibrosis associated meconium ileus' SubClassOf 'perinatal disease' 'cystic fibrosis associated meconium ileus' SubClassOf 'perinatal disease' http://www.ebi.ac.uk/efo/EFO_0004606 gallbladder neoplasm 'gallbladder neoplasm' SubClassOf 'gallbladder disease' 'gallbladder neoplasm' SubClassOf 'Hepatobiliary Neoplasm' 'gallbladder neoplasm' SubClassOf 'gallbladder disease' 'gallbladder neoplasm' SubClassOf 'Hepatobiliary Neoplasm' http://www.ebi.ac.uk/efo/EFO_0004609 treatment refractory schizophrenia 'treatment refractory schizophrenia' SubClassOf 'schizophrenia' 'treatment refractory schizophrenia' SubClassOf 'schizophrenia' http://purl.obolibrary.org/obo/MONDO_0016073 syndromic microphthalmia 'syndromic microphthalmia' SubClassOf 'microphthalmia' 'syndromic microphthalmia' SubClassOf 'microphthalmia' http://purl.obolibrary.org/obo/MONDO_0016075 filariasis 'filariasis' SubClassOf 'Helminthiasis' 'filariasis' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0016091 adult Krabbe disease 'adult Krabbe disease' SubClassOf 'cerebral lipidosis with dementia' 'adult Krabbe disease' SubClassOf 'Krabbe disease' 'adult Krabbe disease' SubClassOf 'cerebral lipidosis with dementia' 'adult Krabbe disease' SubClassOf 'Krabbe disease' http://purl.obolibrary.org/obo/MONDO_0016090 late-infantile/juvenile Krabbe disease 'late-infantile/juvenile Krabbe disease' SubClassOf 'Krabbe disease' 'late-infantile/juvenile Krabbe disease' SubClassOf 'Krabbe disease' http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0016089 infantile Krabbe disease 'infantile Krabbe disease' SubClassOf 'Krabbe disease' 'infantile Krabbe disease' SubClassOf 'Krabbe disease' http://purl.obolibrary.org/obo/MONDO_0016085 Cole-Carpenter syndrome 'Cole-Carpenter syndrome' SubClassOf 'skeletal dysplasia' 'Cole-Carpenter syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cole-Carpenter syndrome' SubClassOf 'syndromic disease' 'Cole-Carpenter syndrome' SubClassOf 'skeletal dysplasia' 'Cole-Carpenter syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cole-Carpenter syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016087 progressive non-infectious anterior vertebral fusion 'progressive non-infectious anterior vertebral fusion' SubClassOf 'genetic disorder' 'progressive non-infectious anterior vertebral fusion' SubClassOf 'dysostosis' 'progressive non-infectious anterior vertebral fusion' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'progressive non-infectious anterior vertebral fusion' SubClassOf 'genetic disorder' 'progressive non-infectious anterior vertebral fusion' SubClassOf 'dysostosis' 'progressive non-infectious anterior vertebral fusion' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016095 vaginal rhabdomyosarcoma 'vaginal rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'vaginal rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0016096 malignant non-dysgerminomatous germ cell tumor of ovary 'malignant non-dysgerminomatous germ cell tumor of ovary' SubClassOf 'ovarian primitive germ cell tumor' 'malignant non-dysgerminomatous germ cell tumor of ovary' SubClassOf 'nongerminomatous germ cell tumor' 'malignant non-dysgerminomatous germ cell tumor of ovary' SubClassOf 'ovarian primitive germ cell tumor' 'malignant non-dysgerminomatous germ cell tumor of ovary' SubClassOf 'nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 'symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'familial dilated cardiomyopathy' 'symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'progressive muscular dystrophy' 'symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'familial dilated cardiomyopathy' 'symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'progressive muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0004698 insomnia 'insomnia' SubClassOf 'Sleep Disorder' 'insomnia' SubClassOf 'Sleep Disorder' http://www.ebi.ac.uk/efo/EFO_0004683 wet macular degeneration 'wet macular degeneration' SubClassOf 'age-related macular degeneration' 'wet macular degeneration' SubClassOf 'age-related macular degeneration' http://www.ebi.ac.uk/efo/EFO_0004686 non-compaction cardiomyopathy 'non-compaction cardiomyopathy' SubClassOf 'cardiomyopathy' 'non-compaction cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0006507 hereditary hemochromatosis 'hereditary hemochromatosis' SubClassOf 'disorder of iron metabolism and transport' 'hereditary hemochromatosis' SubClassOf 'hemosiderosis' 'hereditary hemochromatosis' SubClassOf 'inborn metal metabolism disorder' 'hereditary hemochromatosis' SubClassOf 'disorder of iron metabolism and transport' 'hereditary hemochromatosis' SubClassOf 'hemosiderosis' 'hereditary hemochromatosis' SubClassOf 'inborn metal metabolism disorder' http://www.ebi.ac.uk/efo/EFO_1000862 cervix erosion 'cervix erosion' SubClassOf 'cervix disorder' 'cervix erosion' SubClassOf 'cervix disorder' http://www.ebi.ac.uk/efo/EFO_1000863 Chlamydophila infectious disease 'Chlamydophila infectious disease' SubClassOf 'bacterial sexually transmitted disease' 'Chlamydophila infectious disease' SubClassOf 'bacterial sexually transmitted disease' http://www.ebi.ac.uk/efo/EFO_1000860 cerebral atherosclerosis 'cerebral atherosclerosis' SubClassOf 'atherosclerosis' 'cerebral atherosclerosis' SubClassOf 'atherosclerosis' http://www.ebi.ac.uk/efo/EFO_1000868 chronic inflammatory demyelinating polyradiculoneuropathy 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'demyelinating polyneuropathy' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'polyradiculoneuropathy' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'demyelinating polyneuropathy' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'polyradiculoneuropathy' http://www.ebi.ac.uk/efo/EFO_1000866 choroid cancer 'choroid cancer' SubClassOf 'choroid neoplasm' 'choroid cancer' SubClassOf 'uveal cancer' 'choroid cancer' SubClassOf 'choroid neoplasm' 'choroid cancer' SubClassOf 'uveal cancer' http://www.ebi.ac.uk/efo/EFO_1000867 chromophobe adenoma 'chromophobe adenoma' SubClassOf 'Pituitary Gland Adenoma' 'chromophobe adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_1000864 cholecystolithiasis 'cholecystolithiasis' SubClassOf 'gallbladder disease' 'cholecystolithiasis' SubClassOf 'gallbladder disease' http://www.ebi.ac.uk/efo/EFO_1000865 choledocholithiasis 'choledocholithiasis' SubClassOf 'common bile duct disorder' 'choledocholithiasis' SubClassOf 'common bile duct disorder' http://www.ebi.ac.uk/efo/EFO_1000873 commensal Bifidobacteriales infectious disease 'commensal Bifidobacteriales infectious disease' SubClassOf 'bacterial disease' 'commensal Bifidobacteriales infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1000874 commensal Clostridium infectious disease 'commensal Clostridium infectious disease' SubClassOf 'gram-positive bacterial infections' 'commensal Clostridium infectious disease' SubClassOf 'gram-positive bacterial infections' http://www.ebi.ac.uk/efo/EFO_1000872 commensal Bacteroidaceae infectious disease 'commensal Bacteroidaceae infectious disease' SubClassOf 'gram-negative bacterial infections' 'commensal Bacteroidaceae infectious disease' SubClassOf 'gram-negative bacterial infections' http://www.ebi.ac.uk/efo/EFO_1000870 CNS demyelinating autoimmune disease 'CNS demyelinating autoimmune disease' SubClassOf 'type II hypersensitivity reaction disease' 'CNS demyelinating autoimmune disease' SubClassOf 'type II hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_1000879 corneal edema 'corneal edema' SubClassOf 'corneal disease' 'corneal edema' SubClassOf 'corneal disease' http://www.ebi.ac.uk/efo/EFO_1000877 complex partial epilepsy 'complex partial epilepsy' SubClassOf 'partial epilepsy' 'complex partial epilepsy' SubClassOf 'partial epilepsy' http://www.ebi.ac.uk/efo/EFO_1000878 constrictive pericarditis 'constrictive pericarditis' SubClassOf 'pericarditis' 'constrictive pericarditis' SubClassOf 'pericarditis' http://www.ebi.ac.uk/efo/EFO_1000875 commensal Desulfovibrionaceae infectious disease 'commensal Desulfovibrionaceae infectious disease' SubClassOf 'gram-negative bacterial infections' 'commensal Desulfovibrionaceae infectious disease' SubClassOf 'gram-negative bacterial infections' http://www.ebi.ac.uk/efo/EFO_1000876 common bile duct neoplasm 'common bile duct neoplasm' SubClassOf 'common bile duct disorder' 'common bile duct neoplasm' SubClassOf 'extrahepatic bile duct neoplasm' 'common bile duct neoplasm' SubClassOf 'common bile duct disorder' 'common bile duct neoplasm' SubClassOf 'extrahepatic bile duct neoplasm' http://www.ebi.ac.uk/efo/EFO_1000884 cranial nerve malignant neoplasm 'cranial nerve malignant neoplasm' SubClassOf 'cranial nerve neoplasm' 'cranial nerve malignant neoplasm' SubClassOf 'cranial nerve neoplasm' http://www.ebi.ac.uk/efo/EFO_1000885 cutaneous fibrous histiocytoma 'cutaneous fibrous histiocytoma' SubClassOf 'benign fibrous histiocytoma' 'cutaneous fibrous histiocytoma' SubClassOf 'dermis tumor' 'cutaneous fibrous histiocytoma' SubClassOf 'benign fibrous histiocytoma' 'cutaneous fibrous histiocytoma' SubClassOf 'dermis tumor' http://www.ebi.ac.uk/efo/EFO_1000883 coronary thrombosis 'coronary thrombosis' SubClassOf 'thrombotic disease' 'coronary thrombosis' SubClassOf 'coronary artery disease' 'coronary thrombosis' SubClassOf 'thrombotic disease' 'coronary thrombosis' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_1000880 corneal neovascularization 'corneal neovascularization' SubClassOf 'keratitis' 'corneal neovascularization' SubClassOf 'keratitis' http://www.ebi.ac.uk/efo/EFO_1000881 coronary aneurysm 'coronary aneurysm' SubClassOf 'coronary artery disease' 'coronary aneurysm' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_1000888 cystic lymphangioma 'cystic lymphangioma' SubClassOf 'lymphangioma' 'cystic lymphangioma' SubClassOf 'lymphangioma' http://www.ebi.ac.uk/efo/EFO_1000889 cystic, mucinous, and serous neoplasm 'cystic, mucinous, and serous neoplasm' SubClassOf 'epithelial neoplasm' 'cystic, mucinous, and serous neoplasm' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1000886 cutaneous mastocytosis 'cutaneous mastocytosis' SubClassOf 'dermis tumor' 'cutaneous mastocytosis' SubClassOf 'Mastocytosis' 'cutaneous mastocytosis' SubClassOf 'urticaria' 'cutaneous mastocytosis' SubClassOf 'dermis tumor' 'cutaneous mastocytosis' SubClassOf 'Mastocytosis' 'cutaneous mastocytosis' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_1000887 cutaneous syphilis 'cutaneous syphilis' SubClassOf 'skin disease caused by bacterial infection' 'cutaneous syphilis' SubClassOf 'syphilis' 'cutaneous syphilis' SubClassOf 'skin disease caused by bacterial infection' 'cutaneous syphilis' SubClassOf 'syphilis' http://purl.obolibrary.org/obo/MONDO_0031520 familial severe combined immunodeficiency 'familial severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' 'familial severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_1000895 desmoplastic small round cell tumor 'desmoplastic small round cell tumor' SubClassOf 'small cell sarcoma' 'desmoplastic small round cell tumor' SubClassOf 'soft tissue sarcoma' 'desmoplastic small round cell tumor' SubClassOf 'small cell sarcoma' 'desmoplastic small round cell tumor' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_1000896 diabetic angiopathy 'diabetic angiopathy' SubClassOf 'peripheral vascular disease' 'diabetic angiopathy' SubClassOf 'peripheral vascular disease' http://www.ebi.ac.uk/efo/EFO_1000893 denture stomatitis 'denture stomatitis' SubClassOf 'stomatitis' 'denture stomatitis' SubClassOf 'stomatitis' http://www.ebi.ac.uk/efo/EFO_1000891 De Quervain disease 'De Quervain disease' SubClassOf 'joint disease' 'De Quervain disease' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1000892 dental fluorosis 'dental fluorosis' SubClassOf 'tooth disease' 'dental fluorosis' SubClassOf 'tooth disease' http://www.ebi.ac.uk/efo/EFO_1000890 Dandy-Walker syndrome 'Dandy-Walker syndrome' SubClassOf 'cerebellar disorder' 'Dandy-Walker syndrome' SubClassOf 'cystic malformation of the posterior fossa' 'Dandy-Walker syndrome' SubClassOf 'cerebellar disorder' 'Dandy-Walker syndrome' SubClassOf 'cystic malformation of the posterior fossa' http://www.ebi.ac.uk/efo/EFO_1000899 diastolic heart failure 'diastolic heart failure' SubClassOf 'congestive heart failure' 'diastolic heart failure' SubClassOf 'congestive heart failure' http://www.ebi.ac.uk/efo/EFO_1000897 diabetic ketoacidosis 'diabetic ketoacidosis' SubClassOf 'diabetes mellitus' 'diabetic ketoacidosis' SubClassOf 'diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_1000898 diaphragmatic eventration 'diaphragmatic eventration' SubClassOf 'diaphragm disease' 'diaphragmatic eventration' SubClassOf 'diaphragm disease' http://purl.obolibrary.org/obo/MONDO_0006596 photoallergic dermatitis 'photoallergic dermatitis' SubClassOf 'allergic contact dermatitis' 'photoallergic dermatitis' SubClassOf 'photosensitivity disease' 'photoallergic dermatitis' SubClassOf 'allergic contact dermatitis' 'photoallergic dermatitis' SubClassOf 'photosensitivity disease' http://www.ebi.ac.uk/efo/EFO_0004991 Myasthenia gravis 'Myasthenia gravis' SubClassOf 'autoimmune disorder of peripheral nervous system' 'Myasthenia gravis' SubClassOf 'autoimmune disorder of peripheral nervous system' http://www.ebi.ac.uk/efo/EFO_0004992 Otitis media 'Otitis media' SubClassOf 'inflammatory disease' 'Otitis media' SubClassOf 'middle ear disorder' 'Otitis media' SubClassOf 'inflammatory disease' 'Otitis media' SubClassOf 'middle ear disorder' http://www.ebi.ac.uk/efo/EFO_0004994 lumbar disc degeneration 'lumbar disc degeneration' SubClassOf 'vertebral column disorder' 'lumbar disc degeneration' SubClassOf 'genetic disorder' 'lumbar disc degeneration' SubClassOf 'vertebral column disorder' 'lumbar disc degeneration' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000805 angioid streaks 'angioid streaks' SubClassOf 'retinopathy' 'angioid streaks' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1000802 alcoholic liver cirrhosis 'alcoholic liver cirrhosis' SubClassOf 'cirrhosis of liver' 'alcoholic liver cirrhosis' SubClassOf 'cirrhosis of liver' http://www.ebi.ac.uk/efo/EFO_1000800 alcohol withdrawal delirium 'alcohol withdrawal delirium' SubClassOf 'alcohol-related disorders' 'alcohol withdrawal delirium' SubClassOf 'alcohol withdrawal' 'alcohol withdrawal delirium' SubClassOf 'disease has major feature' some 'Delirium' 'alcohol withdrawal delirium' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Delirium' 'alcohol withdrawal delirium' SubClassOf 'alcohol-related disorders' 'alcohol withdrawal delirium' SubClassOf 'alcohol withdrawal' http://www.ebi.ac.uk/efo/EFO_1000801 alcoholic cardiomyopathy 'alcoholic cardiomyopathy' SubClassOf 'extrinsic cardiomyopathy' 'alcoholic cardiomyopathy' SubClassOf 'alcohol-induced disorders' 'alcoholic cardiomyopathy' SubClassOf 'extrinsic cardiomyopathy' 'alcoholic cardiomyopathy' SubClassOf 'alcohol-induced disorders' http://www.ebi.ac.uk/efo/EFO_1000808 anterior compartment syndrome 'anterior compartment syndrome' SubClassOf 'compartment syndrome' 'anterior compartment syndrome' SubClassOf 'skeletal muscle disorder' 'anterior compartment syndrome' SubClassOf 'compartment syndrome' 'anterior compartment syndrome' SubClassOf 'skeletal muscle disorder' http://www.ebi.ac.uk/efo/EFO_1000809 anterior ischemic optic neuropathy 'anterior ischemic optic neuropathy' SubClassOf 'optic nerve disorder' 'anterior ischemic optic neuropathy' SubClassOf 'optic nerve disorder' http://www.ebi.ac.uk/efo/EFO_1000807 anterior cerebral artery infarction 'anterior cerebral artery infarction' SubClassOf 'cerebral infarction' 'anterior cerebral artery infarction' SubClassOf 'cerebral infarction' http://www.ebi.ac.uk/efo/EFO_1000815 aortic valve prolapse 'aortic valve prolapse' SubClassOf 'aortic valve disease' 'aortic valve prolapse' SubClassOf 'aortic valve disease' http://www.ebi.ac.uk/efo/EFO_1000816 aortitis 'aortitis' SubClassOf 'aortic disease' 'aortitis' SubClassOf 'aortic disease' http://www.ebi.ac.uk/efo/EFO_1000813 anthracosilicosis 'anthracosilicosis' SubClassOf 'pneumoconiosis' 'anthracosilicosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_1000814 anthracosis 'anthracosis' SubClassOf 'pneumoconiosis' 'anthracosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_1000811 anterior uveitis 'anterior uveitis' SubClassOf 'uveitis' 'anterior uveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1000812 anterolateral myocardial infarction 'anterolateral myocardial infarction' SubClassOf 'myocardial infarction' 'anterolateral myocardial infarction' SubClassOf 'myocardial infarction' http://www.ebi.ac.uk/efo/EFO_1000818 arcus senilis 'arcus senilis' SubClassOf 'corneal degeneration' 'arcus senilis' SubClassOf 'genetic disorder' 'arcus senilis' SubClassOf 'corneal degeneration' 'arcus senilis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000826 atrophic gastritis 'atrophic gastritis' SubClassOf 'chronic gastritis' 'atrophic gastritis' SubClassOf 'chronic gastritis' http://www.ebi.ac.uk/efo/EFO_1000827 atrophy of thyroid 'atrophy of thyroid' SubClassOf 'thyroid disease' 'atrophy of thyroid' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_1000824 asphyxia neonatorum 'asphyxia neonatorum' SubClassOf 'respiratory system disease' 'asphyxia neonatorum' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_1000825 atrial heart septal defect 'atrial heart septal defect' SubClassOf 'heart septal defect' 'atrial heart septal defect' SubClassOf 'heart septal defect' http://www.ebi.ac.uk/efo/EFO_1000823 aseptic meningitis 'aseptic meningitis' SubClassOf 'meningitis' 'aseptic meningitis' SubClassOf 'meningitis' http://www.ebi.ac.uk/efo/EFO_1000821 arthus reaction 'arthus reaction' SubClassOf 'type III hypersensitivity reaction disease' 'arthus reaction' SubClassOf 'type III hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_1000828 B- and T-cell mixed leukemia 'B- and T-cell mixed leukemia' SubClassOf 'mixed phenotype acute leukemia' 'B- and T-cell mixed leukemia' SubClassOf 'acute lymphoblastic leukemia' 'B- and T-cell mixed leukemia' SubClassOf 'mixed phenotype acute leukemia' 'B- and T-cell mixed leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1000829 bacterial conjunctivitis 'bacterial conjunctivitis' SubClassOf 'bacterial disease' 'bacterial conjunctivitis' SubClassOf 'conjunctivitis' 'bacterial conjunctivitis' SubClassOf 'bacterial disease' 'bacterial conjunctivitis' SubClassOf 'conjunctivitis' http://www.ebi.ac.uk/efo/EFO_1000837 beriberi 'beriberi' SubClassOf 'vitamin B deficiency' 'beriberi' SubClassOf 'vitamin B deficiency' http://www.ebi.ac.uk/efo/EFO_1000838 bile reflux 'bile reflux' SubClassOf 'biliary tract disease' 'bile reflux' SubClassOf 'biliary tract disease' http://www.ebi.ac.uk/efo/EFO_1000833 balanitis 'balanitis' SubClassOf 'inflammatory disease' 'balanitis' SubClassOf 'penile disorder' 'balanitis' SubClassOf 'inflammatory disease' 'balanitis' SubClassOf 'penile disorder' http://www.ebi.ac.uk/efo/EFO_1000834 basophil adenoma 'basophil adenoma' SubClassOf 'leukocyte disorder' 'basophil adenoma' SubClassOf 'Pituitary Gland Adenoma' 'basophil adenoma' SubClassOf 'leukocyte disorder' 'basophil adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_1000831 bacterial meningitis 'bacterial meningitis' SubClassOf 'infectious meningitis' 'bacterial meningitis' SubClassOf 'infectious meningitis' http://www.ebi.ac.uk/efo/EFO_1000832 Bacteroides infectious disease 'Bacteroides infectious disease' SubClassOf 'commensal Bacteroidaceae infectious disease' 'Bacteroides infectious disease' SubClassOf 'commensal Bacteroidaceae infectious disease' http://www.ebi.ac.uk/efo/EFO_1000839 bladder calculus 'bladder calculus' SubClassOf 'bladder disease' 'bladder calculus' SubClassOf 'lower urinary tract calculus' 'bladder calculus' SubClassOf 'bladder disease' 'bladder calculus' SubClassOf 'lower urinary tract calculus' http://www.ebi.ac.uk/efo/EFO_1000840 bladder neck obstruction 'bladder neck obstruction' SubClassOf 'bladder disease' 'bladder neck obstruction' SubClassOf 'bladder disease' http://www.ebi.ac.uk/efo/EFO_1000841 blue nevus 'blue nevus' SubClassOf 'melanocytic nevus' 'blue nevus' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_1000849 bronchial neoplasm 'bronchial neoplasm' SubClassOf 'bronchial disease' 'bronchial neoplasm' SubClassOf 'bronchial disease' http://www.ebi.ac.uk/efo/EFO_1000847 brain stem infarction 'brain stem infarction' SubClassOf 'brain infarction' 'brain stem infarction' SubClassOf 'brain infarction' http://www.ebi.ac.uk/efo/EFO_1000844 brachial plexus neuropathy 'brachial plexus neuropathy' SubClassOf 'nerve plexus disease' 'brachial plexus neuropathy' SubClassOf 'nerve plexus disease' http://www.ebi.ac.uk/efo/EFO_1000845 brain edema 'brain edema' SubClassOf 'brain disease' 'brain edema' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000843 brachial plexus neuritis 'brachial plexus neuritis' SubClassOf 'brachial plexus neuropathy' 'brachial plexus neuritis' SubClassOf 'neuritis' 'brachial plexus neuritis' SubClassOf 'brachial plexus neuropathy' 'brachial plexus neuritis' SubClassOf 'neuritis' http://www.ebi.ac.uk/efo/EFO_1000851 byssinosis 'byssinosis' SubClassOf 'pneumoconiosis' 'byssinosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_1000852 carcinoid syndrome 'carcinoid syndrome' SubClassOf 'syndromic disease' 'carcinoid syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000850 burning mouth syndrome 'burning mouth syndrome' SubClassOf 'mouth disease' 'burning mouth syndrome' SubClassOf 'syndromic disease' 'burning mouth syndrome' SubClassOf 'mouth disease' 'burning mouth syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000859 cerebral arterial disease 'cerebral arterial disease' SubClassOf 'intracranial arterial disease' 'cerebral arterial disease' SubClassOf 'intracranial arterial disease' http://www.ebi.ac.uk/efo/EFO_1000857 central pontine myelinolysis 'central pontine myelinolysis' SubClassOf 'demyelinating disease' 'central pontine myelinolysis' SubClassOf 'demyelinating disease' http://www.ebi.ac.uk/efo/EFO_1000855 central core myopathy 'central core myopathy' SubClassOf 'TPM2-related myopathy' 'central core myopathy' SubClassOf 'myofibrillar myopathy' 'central core myopathy' SubClassOf 'TPM2-related myopathy' 'central core myopathy' SubClassOf 'myofibrillar myopathy' http://www.ebi.ac.uk/efo/EFO_1000853 carotid artery thrombosis 'carotid artery thrombosis' SubClassOf 'carotid artery disease' 'carotid artery thrombosis' SubClassOf 'intracranial thrombosis' 'carotid artery thrombosis' SubClassOf 'carotid artery disease' 'carotid artery thrombosis' SubClassOf 'intracranial thrombosis' http://www.ebi.ac.uk/efo/EFO_1000854 causalgia 'causalgia' SubClassOf 'complex regional pain syndrome' 'causalgia' SubClassOf 'syndromic disease' 'causalgia' SubClassOf 'complex regional pain syndrome' 'causalgia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0006412 sinus histiocytosis with massive lymphadenopathy 'sinus histiocytosis with massive lymphadenopathy' SubClassOf 'non-Langerhans cell histiocytosis' 'sinus histiocytosis with massive lymphadenopathy' SubClassOf 'non-Langerhans cell histiocytosis' http://www.ebi.ac.uk/efo/EFO_1000983 inferior myocardial infarction 'inferior myocardial infarction' SubClassOf 'myocardial infarction' 'inferior myocardial infarction' SubClassOf 'myocardial infarction' http://www.ebi.ac.uk/efo/EFO_1000984 inflammatory breast carcinoma 'inflammatory breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'inflammatory breast carcinoma' SubClassOf 'breast adenocarcinoma' 'inflammatory breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'inflammatory breast carcinoma' SubClassOf 'breast adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000981 ileal neoplasm 'ileal neoplasm' SubClassOf 'small intestine neoplasm' 'ileal neoplasm' SubClassOf 'small intestine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000982 inappropriate ADH syndrome 'inappropriate ADH syndrome' SubClassOf 'ectopic hormone secretion syndrome associated with neoplasia' 'inappropriate ADH syndrome' SubClassOf 'pituitary gland disease' 'inappropriate ADH syndrome' SubClassOf 'ectopic hormone secretion syndrome associated with neoplasia' 'inappropriate ADH syndrome' SubClassOf 'pituitary gland disease' http://www.ebi.ac.uk/efo/EFO_1000980 ideomotor apraxia 'ideomotor apraxia' SubClassOf 'apraxia' 'ideomotor apraxia' SubClassOf 'apraxia' http://www.ebi.ac.uk/efo/EFO_1000987 intestinal perforation 'intestinal perforation' SubClassOf 'intestinal disease' 'intestinal perforation' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_1000985 intermediate coronary syndrome 'intermediate coronary syndrome' SubClassOf 'coronary artery disease' 'intermediate coronary syndrome' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_1000986 intermediate uveitis 'intermediate uveitis' SubClassOf 'uveitis' 'intermediate uveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1000994 intracranial vasospasm 'intracranial vasospasm' SubClassOf 'cerebrovascular disorder' 'intracranial vasospasm' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1000995 intradermal nevus 'intradermal nevus' SubClassOf 'melanocytic nevus' 'intradermal nevus' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_1000992 intracranial hypertension 'intracranial hypertension' SubClassOf 'hypertension' 'intracranial hypertension' SubClassOf 'brain disease' 'intracranial hypertension' SubClassOf 'hypertension' 'intracranial hypertension' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000993 intracranial hypotension 'intracranial hypotension' SubClassOf 'brain disease' 'intracranial hypotension' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000990 intracranial arterial disease 'intracranial arterial disease' SubClassOf 'cerebrovascular disorder' 'intracranial arterial disease' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1000991 intracranial embolism 'intracranial embolism' SubClassOf 'cerebrovascular disorder' 'intracranial embolism' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1000998 jejunal cancer 'jejunal cancer' SubClassOf 'small intestine cancer' 'jejunal cancer' SubClassOf 'jejunal neoplasm' 'jejunal cancer' SubClassOf 'small intestine cancer' 'jejunal cancer' SubClassOf 'jejunal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000996 iris cancer 'iris cancer' SubClassOf 'uveal cancer' 'iris cancer' SubClassOf 'iris neoplasm' 'iris cancer' SubClassOf 'uveal cancer' 'iris cancer' SubClassOf 'iris neoplasm' http://www.ebi.ac.uk/efo/EFO_1000997 iritis 'iritis' SubClassOf 'iris disorder' 'iritis' SubClassOf 'iris disorder' http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia 'familial hypercholesterolemia' SubClassOf 'hyperlipoproteinemia' 'familial hypercholesterolemia' SubClassOf 'hyperlipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0031400 Tessadori-Van-Haaften neurodevelopmental syndrome 'Tessadori-Van-Haaften neurodevelopmental syndrome' SubClassOf 'genetic disorder' 'Tessadori-Van-Haaften neurodevelopmental syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004906 lymph node metastatic carcinoma 'lymph node metastatic carcinoma' SubClassOf 'lymph node cancer' 'lymph node metastatic carcinoma' SubClassOf 'lymph node cancer' http://purl.obolibrary.org/obo/MONDO_0031422 familial mucolipidosis 'familial mucolipidosis' SubClassOf 'mucolipidosis' 'familial mucolipidosis' SubClassOf 'mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0031415 Carey-Fineman-Ziter syndrome 'Carey-Fineman-Ziter syndrome' SubClassOf 'genetic disorder' 'Carey-Fineman-Ziter syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031447 macrothrombocytopenia, isolated 'macrothrombocytopenia, isolated' SubClassOf 'inherited thrombocytopenia' 'macrothrombocytopenia, isolated' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0031446 hypercholanemia, familial 1 'hypercholanemia, familial 1' SubClassOf 'hypercholanemia, familial' 'hypercholanemia, familial 1' SubClassOf 'hypercholanemia, familial' http://purl.obolibrary.org/obo/MONDO_0031439 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' SubClassOf 'genetic disorder' 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031432 thyroid hormone metabolism, abnormal 'thyroid hormone metabolism, abnormal' SubClassOf 'endocrine system disease' 'thyroid hormone metabolism, abnormal' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_1000903 drug-induced akathisia 'drug-induced akathisia' SubClassOf 'nervous system disease' 'drug-induced akathisia' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000904 drug-Induced dyskinesia 'drug-Induced dyskinesia' SubClassOf 'nervous system disease' 'drug-Induced dyskinesia' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000901 discrete subaortic stenosis 'discrete subaortic stenosis' SubClassOf 'subvalvular aortic stenosis' 'discrete subaortic stenosis' SubClassOf 'subvalvular aortic stenosis' http://www.ebi.ac.uk/efo/EFO_1000902 drug psychosis 'drug psychosis' SubClassOf 'drug-induced mental disorder' 'drug psychosis' SubClassOf 'substance-induced psychosis' 'drug psychosis' SubClassOf 'drug-induced mental disorder' 'drug psychosis' SubClassOf 'substance-induced psychosis' http://www.ebi.ac.uk/efo/EFO_1000909 duodenogastric reflux 'duodenogastric reflux' SubClassOf 'duodenal disorder' 'duodenogastric reflux' SubClassOf 'gastroesophageal reflux disease' 'duodenogastric reflux' SubClassOf 'duodenal disorder' 'duodenogastric reflux' SubClassOf 'gastroesophageal reflux disease' http://www.ebi.ac.uk/efo/EFO_1000907 duodenal benign neoplasm 'duodenal benign neoplasm' SubClassOf 'benign neoplasm of small intestine' 'duodenal benign neoplasm' SubClassOf 'tumor of duodenum' 'duodenal benign neoplasm' SubClassOf 'benign neoplasm of small intestine' 'duodenal benign neoplasm' SubClassOf 'tumor of duodenum' http://www.ebi.ac.uk/efo/EFO_1000906 dry eye syndrome 'dry eye syndrome' SubClassOf 'lacrimal apparatus disease' 'dry eye syndrome' SubClassOf 'keratoconjunctivitis' 'dry eye syndrome' SubClassOf 'syndromic disease' 'dry eye syndrome' SubClassOf 'lacrimal apparatus disease' 'dry eye syndrome' SubClassOf 'keratoconjunctivitis' 'dry eye syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000914 empty sella syndrome 'empty sella syndrome' SubClassOf 'syndromic disease' 'empty sella syndrome' SubClassOf 'pituitary gland disease' 'empty sella syndrome' SubClassOf 'syndromic disease' 'empty sella syndrome' SubClassOf 'pituitary gland disease' http://www.ebi.ac.uk/efo/EFO_1000915 encephalomalacia 'encephalomalacia' SubClassOf 'brain disease' 'encephalomalacia' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_1000912 eccrine acrospiroma 'eccrine acrospiroma' SubClassOf 'benign neoplasm of sweat gland' 'eccrine acrospiroma' SubClassOf 'benign neoplasm of sweat gland' http://www.ebi.ac.uk/efo/EFO_1000913 ehrlich tumor carcinoma 'ehrlich tumor carcinoma' SubClassOf 'breast carcinoma' 'ehrlich tumor carcinoma' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1000910 dysplasia of cervix 'dysplasia of cervix' SubClassOf 'reproductive system disease' 'dysplasia of cervix' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000911 dystocia 'dystocia' SubClassOf 'pregnancy disorder' 'dystocia' SubClassOf 'pregnancy disorder' http://www.ebi.ac.uk/efo/EFO_1000918 endolymphatic hydrops 'endolymphatic hydrops' SubClassOf 'peripheral vertigo' 'endolymphatic hydrops' SubClassOf 'peripheral vertigo' http://www.ebi.ac.uk/efo/EFO_1000919 endometrial stromal sarcoma 'endometrial stromal sarcoma' SubClassOf 'endometrial stromal tumor' 'endometrial stromal sarcoma' SubClassOf 'sarcoma' 'endometrial stromal sarcoma' SubClassOf 'endometrial stromal tumor' 'endometrial stromal sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_1000916 endemic goiter 'endemic goiter' SubClassOf 'nutritional deficiency disease' 'endemic goiter' SubClassOf 'goiter' 'endemic goiter' SubClassOf 'nutritional deficiency disease' 'endemic goiter' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_1000917 endocrine tuberculosis 'endocrine tuberculosis' SubClassOf 'tuberculosis' 'endocrine tuberculosis' SubClassOf 'tuberculosis' http://www.ebi.ac.uk/efo/EFO_1000926 Erdheim-Chester disease 'Erdheim-Chester disease' SubClassOf 'syndromic disease' 'Erdheim-Chester disease' SubClassOf 'non-Langerhans cell histiocytosis' 'Erdheim-Chester disease' SubClassOf 'syndromic disease' 'Erdheim-Chester disease' SubClassOf 'non-Langerhans cell histiocytosis' http://www.ebi.ac.uk/efo/EFO_1000924 epilepsia partialis continua 'epilepsia partialis continua' SubClassOf 'epilepsy' 'epilepsia partialis continua' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_1000921 endomyocardial fibrosis 'endomyocardial fibrosis' SubClassOf 'restrictive cardiomyopathy' 'endomyocardial fibrosis' SubClassOf 'restrictive cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1000920 endometrial stromal tumor 'endometrial stromal tumor' SubClassOf 'endometrium neoplasm' 'endometrial stromal tumor' SubClassOf 'endometrium neoplasm' http://www.ebi.ac.uk/efo/EFO_1000929 Escherichia coli meningitis 'Escherichia coli meningitis' SubClassOf 'bacterial meningitis' 'Escherichia coli meningitis' SubClassOf 'bacterial meningitis' http://purl.obolibrary.org/obo/MONDO_0031481 microcephaly, epilepsy, and diabetes syndrome 1 'microcephaly, epilepsy, and diabetes syndrome 1' SubClassOf 'microcephaly, epilepsy, and diabetes syndrome' 'microcephaly, epilepsy, and diabetes syndrome 1' SubClassOf 'microcephaly, epilepsy, and diabetes syndrome' http://www.ebi.ac.uk/efo/EFO_1000928 Erysipelothrix rhusiopathiae infectious disease 'Erysipelothrix rhusiopathiae infectious disease' SubClassOf 'Erysipelothrix infectious disease' 'Erysipelothrix rhusiopathiae infectious disease' SubClassOf 'Erysipelothrix infectious disease' http://www.ebi.ac.uk/efo/EFO_1000936 femoral neuropathy 'femoral neuropathy' SubClassOf 'mononeuropathy' 'femoral neuropathy' SubClassOf 'mononeuropathy' http://www.ebi.ac.uk/efo/EFO_1000937 fetal erythroblastosis 'fetal erythroblastosis' SubClassOf 'microcytic anemia' 'fetal erythroblastosis' SubClassOf 'disease has location' some 'erythroblast' 'fetal erythroblastosis' SubClassOf 'microcytic anemia' 'fetal erythroblastosis' SubClassOf 'disease has location' some 'erythroblast' http://www.ebi.ac.uk/efo/EFO_1000934 eyelid neoplasm 'eyelid neoplasm' SubClassOf 'skin neoplasm' 'eyelid neoplasm' SubClassOf 'eyelid disease' 'eyelid neoplasm' SubClassOf 'eye neoplasm' 'eyelid neoplasm' SubClassOf 'skin neoplasm' 'eyelid neoplasm' SubClassOf 'eyelid disease' 'eyelid neoplasm' SubClassOf 'eye neoplasm' http://www.ebi.ac.uk/efo/EFO_1000935 female genital tuberculosis 'female genital tuberculosis' SubClassOf 'reproductive system disease' 'female genital tuberculosis' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000932 extracutaneous mastocytoma 'extracutaneous mastocytoma' SubClassOf 'mastocytoma' 'extracutaneous mastocytoma' SubClassOf 'systemic mastocytosis' 'extracutaneous mastocytoma' SubClassOf 'mastocytoma' 'extracutaneous mastocytoma' SubClassOf 'systemic mastocytosis' http://www.ebi.ac.uk/efo/EFO_1000933 extrahepatic cholestasis 'extrahepatic cholestasis' SubClassOf 'cholestasis' 'extrahepatic cholestasis' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'extrahepatic cholestasis' SubClassOf 'cholestasis' 'extrahepatic cholestasis' SubClassOf 'Non-Neoplastic Bile Duct Disorder' http://www.ebi.ac.uk/efo/EFO_1000930 esophageal diverticulosis 'esophageal diverticulosis' SubClassOf 'esophageal disease' 'esophageal diverticulosis' SubClassOf 'esophageal disease' http://www.ebi.ac.uk/efo/EFO_1000931 euthyroid sick syndrome 'euthyroid sick syndrome' SubClassOf 'thyroid disease' 'euthyroid sick syndrome' SubClassOf 'syndromic disease' 'euthyroid sick syndrome' SubClassOf 'thyroid disease' 'euthyroid sick syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000938 fibromuscular dysplasia 'fibromuscular dysplasia' SubClassOf 'genetic disorder' 'fibromuscular dysplasia' SubClassOf 'arterial disorder' 'fibromuscular dysplasia' SubClassOf 'genetic disorder' 'fibromuscular dysplasia' SubClassOf 'arterial disorder' http://www.ebi.ac.uk/efo/EFO_1000939 freemartinism 'freemartinism' SubClassOf 'cattle disease' 'freemartinism' SubClassOf 'cattle disease' http://www.ebi.ac.uk/efo/EFO_1000940 Frey Syndrome 'Frey Syndrome' SubClassOf 'autonomic nervous system disease' 'Frey Syndrome' SubClassOf 'autonomic nervous system disease' http://www.ebi.ac.uk/efo/EFO_0004895 Tourette syndrome 'Tourette syndrome' SubClassOf 'movement disorder' 'Tourette syndrome' SubClassOf 'tic disorder' 'Tourette syndrome' SubClassOf 'syndromic disease' 'Tourette syndrome' SubClassOf 'movement disorder' 'Tourette syndrome' SubClassOf 'tic disorder' 'Tourette syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000948 gastroparesis 'gastroparesis' SubClassOf 'functional gastric disease' 'gastroparesis' SubClassOf 'functional gastric disease' http://www.ebi.ac.uk/efo/EFO_1000945 gastric antral vascular ectasia 'gastric antral vascular ectasia' SubClassOf 'capillary disorder' 'gastric antral vascular ectasia' SubClassOf 'vascular ectasia' 'gastric antral vascular ectasia' SubClassOf 'capillary disorder' 'gastric antral vascular ectasia' SubClassOf 'vascular ectasia' http://www.ebi.ac.uk/efo/EFO_1000946 gastric mucosal hypertrophy 'gastric mucosal hypertrophy' SubClassOf 'genetic disorder' 'gastric mucosal hypertrophy' SubClassOf 'gastritis' 'gastric mucosal hypertrophy' SubClassOf 'genetic disorder' 'gastric mucosal hypertrophy' SubClassOf 'gastritis' http://www.ebi.ac.uk/efo/EFO_1000944 gait apraxia 'gait apraxia' SubClassOf 'apraxia' 'gait apraxia' SubClassOf 'apraxia' http://www.ebi.ac.uk/efo/EFO_1000942 fungal meningitis 'fungal meningitis' SubClassOf 'infectious meningitis' 'fungal meningitis' SubClassOf 'infectious meningitis' http://www.ebi.ac.uk/efo/EFO_1000949 gastroschisis 'gastroschisis' SubClassOf 'abdominal wall malformation' 'gastroschisis' SubClassOf 'abdominal wall malformation' http://www.ebi.ac.uk/efo/EFO_1000950 giant cell reparative granuloma 'giant cell reparative granuloma' SubClassOf 'bone giant cell tumor' 'giant cell reparative granuloma' SubClassOf 'bone giant cell tumor' http://www.ebi.ac.uk/efo/EFO_1000951 glossitis 'glossitis' SubClassOf 'tongue disorder' 'glossitis' SubClassOf 'inflammatory disease' 'glossitis' SubClassOf 'tongue disorder' 'glossitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0004889 postoperative ventricular dysfunction 'postoperative ventricular dysfunction' SubClassOf 'coronary artery disease' 'postoperative ventricular dysfunction' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_1000958 halo nevus 'halo nevus' SubClassOf 'melanocytic nevus' 'halo nevus' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_1000959 heart aneurysm 'heart aneurysm' SubClassOf 'heart disease' 'heart aneurysm' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_1000956 hairy cell leukemia 'hairy cell leukemia' SubClassOf 'chronic lymphocytic leukemia' 'hairy cell leukemia' SubClassOf 'chronic lymphocytic leukemia' http://www.ebi.ac.uk/efo/EFO_1000957 hairy tongue 'hairy tongue' SubClassOf 'tongue disorder' 'hairy tongue' SubClassOf 'tongue disorder' http://www.ebi.ac.uk/efo/EFO_1000954 habitual abortion 'habitual abortion' SubClassOf 'reproductive system disease' 'habitual abortion' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1000955 Haemophilus influenzae meningitis 'Haemophilus influenzae meningitis' SubClassOf 'bacterial meningitis' 'Haemophilus influenzae meningitis' SubClassOf 'bacterial meningitis' http://www.ebi.ac.uk/efo/EFO_1000953 gonadal tissue neoplasm 'gonadal tissue neoplasm' SubClassOf 'reproductive system neoplasm' 'gonadal tissue neoplasm' SubClassOf 'reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000961 Helicobacter pylori infectious disease 'Helicobacter pylori infectious disease' SubClassOf 'gram-negative bacterial infections' 'Helicobacter pylori infectious disease' SubClassOf 'gram-negative bacterial infections' http://www.ebi.ac.uk/efo/EFO_1000962 hemometra 'hemometra' SubClassOf 'uterine disorder' 'hemometra' SubClassOf 'uterine disorder' http://www.ebi.ac.uk/efo/EFO_1000969 hyperamylasemia 'hyperamylasemia' SubClassOf 'hematologic disease' 'hyperamylasemia' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_1000967 hidrocystoma 'hidrocystoma' SubClassOf 'benign neoplasm of sweat gland' 'hidrocystoma' SubClassOf 'benign neoplasm of sweat gland' http://www.ebi.ac.uk/efo/EFO_1000968 hydrophthalmos 'hydrophthalmos' SubClassOf 'primary congenital glaucoma' 'hydrophthalmos' SubClassOf 'primary congenital glaucoma' http://www.ebi.ac.uk/efo/EFO_1000966 hepatic vein thrombosis 'hepatic vein thrombosis' SubClassOf 'hepatic vascular disorder' 'hepatic vein thrombosis' SubClassOf 'hepatic vascular disorder' http://www.ebi.ac.uk/efo/EFO_1000963 hemopneumothorax 'hemopneumothorax' SubClassOf 'pneumothorax' 'hemopneumothorax' SubClassOf 'pneumothorax' http://www.ebi.ac.uk/efo/EFO_1000964 hemorrhagic disease of newborn 'hemorrhagic disease of newborn' SubClassOf 'nutritional disorder' 'hemorrhagic disease of newborn' SubClassOf 'nutritional disorder' http://www.ebi.ac.uk/efo/EFO_1000972 hyperglobulinemic purpura 'hyperglobulinemic purpura' SubClassOf 'purpura' 'hyperglobulinemic purpura' SubClassOf 'skin disease' 'hyperglobulinemic purpura' SubClassOf 'skin disease' 'hyperglobulinemic purpura' SubClassOf 'purpura' http://www.ebi.ac.uk/efo/EFO_1000970 hypercementosis 'hypercementosis' SubClassOf 'tooth hard tissue disease' 'hypercementosis' SubClassOf 'tooth hard tissue disease' http://www.ebi.ac.uk/efo/EFO_1000971 hyperemesis gravidarum 'hyperemesis gravidarum' SubClassOf 'pregnancy disorder' 'hyperemesis gravidarum' SubClassOf 'pregnancy disorder' http://www.ebi.ac.uk/efo/EFO_1000978 hypervitaminosis A 'hypervitaminosis A' SubClassOf 'overnutrition' 'hypervitaminosis A' SubClassOf 'overnutrition' http://www.ebi.ac.uk/efo/EFO_1000979 hypothalamic neoplasm 'hypothalamic neoplasm' SubClassOf 'hypothalamic disorder' 'hypothalamic neoplasm' SubClassOf 'hypothalamic disorder' http://www.ebi.ac.uk/efo/EFO_1000976 hypertensive encephalopathy 'hypertensive encephalopathy' SubClassOf 'intracranial hypertension' 'hypertensive encephalopathy' SubClassOf 'intracranial hypertension' http://www.ebi.ac.uk/efo/EFO_1000977 hypertensive retinopathy 'hypertensive retinopathy' SubClassOf 'retinopathy' 'hypertensive retinopathy' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1000974 hypersensitivity vasculitis 'hypersensitivity vasculitis' SubClassOf 'hypersensitivity reaction disease' 'hypersensitivity vasculitis' SubClassOf 'vasculitis' 'hypersensitivity vasculitis' SubClassOf 'hypersensitivity reaction disease' 'hypersensitivity vasculitis' SubClassOf 'vasculitis' http://www.ebi.ac.uk/efo/EFO_1000975 hypersplenism 'hypersplenism' SubClassOf 'splenic disease' 'hypersplenism' SubClassOf 'splenic disease' http://www.ebi.ac.uk/efo/EFO_1000620 Vaginal Squamous Cell Carcinoma 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal squamous tumor' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal squamous tumor' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000627 thyroid disease 'thyroid disease' SubClassOf 'endocrine system disease' 'thyroid disease' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_1000624 Vulvar Squamous Cell Carcinoma 'Vulvar Squamous Cell Carcinoma' SubClassOf 'vulvar squamous neoplasm' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'vulvar carcinoma' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'vulvar squamous neoplasm' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vulvar Squamous Cell Carcinoma' SubClassOf 'vulvar carcinoma' http://www.ebi.ac.uk/efo/EFO_1000625 Warthin Tumor 'Warthin Tumor' SubClassOf 'benign neoplasm of salivary gland' 'Warthin Tumor' SubClassOf 'benign epithelial neoplasm' 'Warthin Tumor' SubClassOf 'benign neoplasm of salivary gland' 'Warthin Tumor' SubClassOf 'benign epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1000623 Vulvar Lichen Sclerosus 'Vulvar Lichen Sclerosus' SubClassOf 'lichen sclerosus et atrophicus' 'Vulvar Lichen Sclerosus' SubClassOf 'vulvar dystrophy' 'Vulvar Lichen Sclerosus' SubClassOf 'lichen sclerosus et atrophicus' 'Vulvar Lichen Sclerosus' SubClassOf 'vulvar dystrophy' http://purl.obolibrary.org/obo/MONDO_0021944 auditory neuropathy 'auditory neuropathy' SubClassOf 'hearing loss' 'auditory neuropathy' SubClassOf 'hearing loss' http://purl.obolibrary.org/obo/MONDO_0021948 cutaneous tuberculosis 'cutaneous tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'cutaneous tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_1000631 palsy 'palsy' SubClassOf 'central nervous system disease' 'palsy' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000632 cerebral palsy 'cerebral palsy' SubClassOf 'palsy' 'cerebral palsy' SubClassOf 'palsy' http://www.ebi.ac.uk/efo/EFO_1000630 marginal zone B-cell lymphoma 'marginal zone B-cell lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' 'marginal zone B-cell lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' http://www.ebi.ac.uk/efo/EFO_1000639 acquired metabolic disease 'acquired metabolic disease' SubClassOf 'metabolic disease' 'acquired metabolic disease' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_1000637 acute respiratory distress syndrome 'acute respiratory distress syndrome' SubClassOf 'acute respiratory failure' 'acute respiratory distress syndrome' SubClassOf 'syndromic disease' 'acute respiratory distress syndrome' SubClassOf 'acute respiratory failure' 'acute respiratory distress syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000635 hemangioma 'hemangioma' SubClassOf 'benign blood vessel neoplasm' 'hemangioma' SubClassOf 'benign blood vessel neoplasm' http://www.ebi.ac.uk/efo/EFO_1000633 adenomatous colon polyp 'adenomatous colon polyp' SubClassOf 'colon adenoma' 'adenomatous colon polyp' SubClassOf 'polyp of colon' 'adenomatous colon polyp' SubClassOf 'colon adenoma' 'adenomatous colon polyp' SubClassOf 'polyp of colon' http://www.ebi.ac.uk/efo/EFO_1000634 hamartoma 'hamartoma' SubClassOf 'neoplasm' 'hamartoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000640 basal ganglia cerebrovascular disease 'basal ganglia cerebrovascular disease' SubClassOf 'cerebrovascular disorder' 'basal ganglia cerebrovascular disease' SubClassOf 'basal ganglia disease' 'basal ganglia cerebrovascular disease' SubClassOf 'cerebrovascular disorder' 'basal ganglia cerebrovascular disease' SubClassOf 'basal ganglia disease' http://www.ebi.ac.uk/efo/EFO_1000641 congenital nonspherocytic hemolytic anemia 'congenital nonspherocytic hemolytic anemia' SubClassOf 'familial hemolytic anemia' 'congenital nonspherocytic hemolytic anemia' SubClassOf 'inherited hemoglobinopathy' 'congenital nonspherocytic hemolytic anemia' SubClassOf 'familial hemolytic anemia' 'congenital nonspherocytic hemolytic anemia' SubClassOf 'inherited hemoglobinopathy' http://www.ebi.ac.uk/efo/EFO_1000648 developmental dysplasia of the hip 'developmental dysplasia of the hip' SubClassOf 'disease has major feature' some 'Abnormal hip joint morphology' 'developmental dysplasia of the hip' SubClassOf 'bone development disease' 'developmental dysplasia of the hip' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal hip joint morphology' 'developmental dysplasia of the hip' SubClassOf 'bone development disease' http://www.ebi.ac.uk/efo/EFO_1000649 estrogen-receptor positive breast cancer 'estrogen-receptor positive breast cancer' SubClassOf 'Breast Carcinoma by Gene Expression Profile' 'estrogen-receptor positive breast cancer' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://www.ebi.ac.uk/efo/EFO_1000646 papillary carcinoma 'papillary carcinoma' SubClassOf 'carcinoma' 'papillary carcinoma' SubClassOf 'papillary epithelial neoplasm' 'papillary carcinoma' SubClassOf 'carcinoma' 'papillary carcinoma' SubClassOf 'papillary epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1000647 renal tubular transport disease 'renal tubular transport disease' SubClassOf 'kidney disease' 'renal tubular transport disease' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1000644 newborn respiratory distress syndrome 'newborn respiratory distress syndrome' SubClassOf 'pediatric acute respiratory distress syndrome' 'newborn respiratory distress syndrome' SubClassOf 'primary interstitial lung disease specific to childhood' 'newborn respiratory distress syndrome' SubClassOf 'pediatric acute respiratory distress syndrome' 'newborn respiratory distress syndrome' SubClassOf 'primary interstitial lung disease specific to childhood' http://www.ebi.ac.uk/efo/EFO_1000645 orthostatic intolerance 'orthostatic intolerance' SubClassOf 'heart conduction disease' 'orthostatic intolerance' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0021950 autoimmune oophoritis 'autoimmune oophoritis' SubClassOf 'oophoritis' 'autoimmune oophoritis' SubClassOf 'oophoritis' http://www.ebi.ac.uk/efo/EFO_1000654 childhood cancer 'childhood cancer' SubClassOf 'childhood neoplasm' 'childhood cancer' SubClassOf 'cancer' 'childhood cancer' SubClassOf 'childhood neoplasm' 'childhood cancer' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1000652 acute pancreatitis 'acute pancreatitis' SubClassOf 'pancreatitis' 'acute pancreatitis' SubClassOf 'pancreatitis' http://www.ebi.ac.uk/efo/EFO_1000650 estrogen-receptor negative breast cancer 'estrogen-receptor negative breast cancer' SubClassOf 'Breast Carcinoma by Gene Expression Profile' 'estrogen-receptor negative breast cancer' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://www.ebi.ac.uk/efo/EFO_1000657 rectum cancer 'rectum cancer' SubClassOf 'colorectal cancer' 'rectum cancer' SubClassOf 'rectal neoplasm' 'rectum cancer' SubClassOf 'colorectal cancer' 'rectum cancer' SubClassOf 'rectal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000656 sporadic Creutzfeld Jacob disease 'sporadic Creutzfeld Jacob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'sporadic Creutzfeld Jacob disease' SubClassOf 'Creutzfeldt Jacob Disease' http://purl.obolibrary.org/obo/MONDO_0021953 tuberculous fibrosis of lung 'tuberculous fibrosis of lung' SubClassOf 'pulmonary tuberculosis' 'tuberculous fibrosis of lung' SubClassOf 'pulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_1000664 acrodermatitis 'acrodermatitis' SubClassOf 'dermatitis' 'acrodermatitis' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000665 acrodermatitis chronica atrophicans 'acrodermatitis chronica atrophicans' SubClassOf 'acrodermatitis' 'acrodermatitis chronica atrophicans' SubClassOf 'acrodermatitis' http://www.ebi.ac.uk/efo/EFO_1000662 acneiform dermatitis 'acneiform dermatitis' SubClassOf 'dermatitis' 'acneiform dermatitis' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000663 acquired keratosis 'acquired keratosis' SubClassOf 'keratosis' 'acquired keratosis' SubClassOf 'keratosis' http://www.ebi.ac.uk/efo/EFO_1000660 acanthosis nigricans 'acanthosis nigricans' SubClassOf 'dermatitis' 'acanthosis nigricans' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000661 Achenbach syndrome 'Achenbach syndrome' SubClassOf 'syndromic disease' 'Achenbach syndrome' SubClassOf 'skin disease' 'Achenbach syndrome' SubClassOf 'syndromic disease' 'Achenbach syndrome' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000668 allergic contact dermatitis 'allergic contact dermatitis' SubClassOf 'contact dermatitis' 'allergic contact dermatitis' SubClassOf 'contact dermatitis' http://www.ebi.ac.uk/efo/EFO_1000669 allergic urticaria 'allergic urticaria' SubClassOf 'urticaria' 'allergic urticaria' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_1000666 acrokeratosis verruciformis 'acrokeratosis verruciformis' SubClassOf 'keratosis' 'acrokeratosis verruciformis' SubClassOf 'keratosis' http://www.ebi.ac.uk/efo/EFO_1000667 adiposis dolorosa 'adiposis dolorosa' SubClassOf 'lipomatosis' 'adiposis dolorosa' SubClassOf 'subcutaneous tissue disorder' 'adiposis dolorosa' SubClassOf 'lipomatosis' 'adiposis dolorosa' SubClassOf 'subcutaneous tissue disorder' http://www.ebi.ac.uk/efo/EFO_1000675 cholesteatoma 'cholesteatoma' SubClassOf 'keratosis' 'cholesteatoma' SubClassOf 'keratosis' http://www.ebi.ac.uk/efo/EFO_1000676 cholesteatoma of attic 'cholesteatoma of attic' SubClassOf 'cholesteatoma of middle ear' 'cholesteatoma of attic' SubClassOf 'cholesteatoma of middle ear' http://www.ebi.ac.uk/efo/EFO_1000671 bacterial exanthem 'bacterial exanthem' SubClassOf 'exanthem' 'bacterial exanthem' SubClassOf 'exanthem' http://www.ebi.ac.uk/efo/EFO_1000670 anhidrosis 'anhidrosis' SubClassOf 'disease has major feature' some 'Anhidrosis' 'anhidrosis' SubClassOf 'sweat gland disease' 'anhidrosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Anhidrosis' 'anhidrosis' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000679 cholinergic urticaria 'cholinergic urticaria' SubClassOf 'physical urticaria' 'cholinergic urticaria' SubClassOf 'physical urticaria' http://www.ebi.ac.uk/efo/EFO_1000677 cholesteatoma of external ear 'cholesteatoma of external ear' SubClassOf 'cholesteatoma' 'cholesteatoma of external ear' SubClassOf 'external ear disease' 'cholesteatoma of external ear' SubClassOf 'cholesteatoma' 'cholesteatoma of external ear' SubClassOf 'external ear disease' http://www.ebi.ac.uk/efo/EFO_1000678 cholesteatoma of middle ear 'cholesteatoma of middle ear' SubClassOf 'cholesteatoma' 'cholesteatoma of middle ear' SubClassOf 'middle ear disorder' 'cholesteatoma of middle ear' SubClassOf 'cholesteatoma' 'cholesteatoma of middle ear' SubClassOf 'middle ear disorder' http://purl.obolibrary.org/obo/MONDO_0031329 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 'craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome' SubClassOf 'genetic disorder' 'craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000686 dermatosis papulosa nigra 'dermatosis papulosa nigra' SubClassOf 'dermatitis' 'dermatosis papulosa nigra' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000687 diffuse lipomatosis 'diffuse lipomatosis' SubClassOf 'lipomatosis' 'diffuse lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000684 dermatitis herpetiformis 'dermatitis herpetiformis' SubClassOf 'autoimmune bullous skin disease' 'dermatitis herpetiformis' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_1000685 dermatographia 'dermatographia' SubClassOf 'physical urticaria' 'dermatographia' SubClassOf 'physical urticaria' http://www.ebi.ac.uk/efo/EFO_1000682 conjunctival pigmentation 'conjunctival pigmentation' SubClassOf 'conjunctival deposit' 'conjunctival pigmentation' SubClassOf 'conjunctival deposit' http://www.ebi.ac.uk/efo/EFO_1000680 mucous membrane pemphigoid 'mucous membrane pemphigoid' SubClassOf 'autoimmune bullous skin disease' 'mucous membrane pemphigoid' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_1000688 dyshidrosis 'dyshidrosis' SubClassOf 'sweat gland disease' 'dyshidrosis' SubClassOf 'sweat gland disease' http://purl.obolibrary.org/obo/MONDO_0031323 cardiac valvular defect 'cardiac valvular defect' SubClassOf 'genetic disorder' 'cardiac valvular defect' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000690 epidermolysis bullosa 'epidermolysis bullosa' SubClassOf 'vesiculobullous skin disease' 'epidermolysis bullosa' SubClassOf 'vesiculobullous skin disease' http://www.ebi.ac.uk/efo/EFO_1000697 exanthem 'exanthem' SubClassOf 'skin disease' 'exanthem' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000698 facial dermatosis 'facial dermatosis' SubClassOf 'skin disease' 'facial dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000695 erythematosquamous dermatosis 'erythematosquamous dermatosis' SubClassOf 'skin disease' 'erythematosquamous dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000693 erythema infectiosum 'erythema infectiosum' SubClassOf 'viral disease' 'erythema infectiosum' SubClassOf 'viral exanthem' 'erythema infectiosum' SubClassOf 'viral disease' 'erythema infectiosum' SubClassOf 'viral exanthem' http://www.ebi.ac.uk/efo/EFO_1000694 erythema multiforme 'erythema multiforme' SubClassOf 'skin disease' 'erythema multiforme' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000691 epidermolysis bullosa acquisita 'epidermolysis bullosa acquisita' SubClassOf 'autoimmune bullous skin disease' 'epidermolysis bullosa acquisita' SubClassOf 'epidermolysis bullosa' 'epidermolysis bullosa acquisita' SubClassOf 'autoimmune bullous skin disease' 'epidermolysis bullosa acquisita' SubClassOf 'epidermolysis bullosa' http://www.ebi.ac.uk/efo/EFO_1000692 epidermolysis bullosa dystrophica 'epidermolysis bullosa dystrophica' SubClassOf 'inherited epidermolysis bullosa' 'epidermolysis bullosa dystrophica' SubClassOf 'inherited epidermolysis bullosa' http://www.ebi.ac.uk/efo/EFO_1000699 fibroepithelial polyp of the anus 'fibroepithelial polyp of the anus' SubClassOf 'fibroepithelial polyp' 'fibroepithelial polyp of the anus' SubClassOf 'fibroepithelial polyp' http://purl.obolibrary.org/obo/MONDO_0031332 Glanzmann thrombasthenia 1 'Glanzmann thrombasthenia 1' SubClassOf 'Glanzmann thrombasthenia' 'Glanzmann thrombasthenia 1' SubClassOf 'Glanzmann thrombasthenia' http://purl.obolibrary.org/obo/MONDO_0031386 cardioacrofacial dysplasia 'cardioacrofacial dysplasia' SubClassOf 'genetic disorder' 'cardioacrofacial dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031384 autoinflammatory syndrome, familial, Behcet-like 'autoinflammatory syndrome, familial, Behcet-like' SubClassOf 'autoinflammatory syndrome' 'autoinflammatory syndrome, familial, Behcet-like' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0031376 congenital disorder of deglycosylation 'congenital disorder of deglycosylation' SubClassOf 'inborn errors of metabolism' 'congenital disorder of deglycosylation' SubClassOf 'inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_1000606 Undifferentiated Pancreatic Carcinoma 'Undifferentiated Pancreatic Carcinoma' SubClassOf 'pancreatic ductal adenocarcinoma' 'Undifferentiated Pancreatic Carcinoma' SubClassOf 'pancreatic ductal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000607 Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells 'Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells' SubClassOf 'Undifferentiated Pancreatic Carcinoma' 'Undifferentiated Pancreatic Carcinoma with Osteoclast-Like Giant Cells' SubClassOf 'Undifferentiated Pancreatic Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000604 Undifferentiated Gallbladder Carcinoma 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'gallbladder carcinoma' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'gallbladder carcinoma' 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.ebi.ac.uk/efo/EFO_1000605 Undifferentiated Ovarian Carcinoma 'Undifferentiated Ovarian Carcinoma' SubClassOf 'ovarian carcinoma' 'Undifferentiated Ovarian Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Undifferentiated Ovarian Carcinoma' SubClassOf 'ovarian carcinoma' 'Undifferentiated Ovarian Carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.ebi.ac.uk/efo/EFO_1000600 Tracheal Squamous Cell Carcinoma 'Tracheal Squamous Cell Carcinoma' SubClassOf 'Tracheal Carcinoma' 'Tracheal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Tracheal Squamous Cell Carcinoma' SubClassOf 'Tracheal Carcinoma' 'Tracheal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000601 Transitional Cell Carcinoma 'Transitional Cell Carcinoma' SubClassOf 'carcinoma' 'Transitional Cell Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000608 Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant 'Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant' SubClassOf 'undifferentiated pleomorphic sarcoma' 'Undifferentiated Pleomorphic Sarcoma, Inflammatory Variant' SubClassOf 'undifferentiated pleomorphic sarcoma' http://www.ebi.ac.uk/efo/EFO_1000609 Ureter Carcinoma 'Ureter Carcinoma' SubClassOf 'ureter cancer' 'Ureter Carcinoma' SubClassOf 'carcinoma' 'Ureter Carcinoma' SubClassOf 'ureter cancer' 'Ureter Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000610 Ureter Small Cell Carcinoma 'Ureter Small Cell Carcinoma' SubClassOf 'Ureter Carcinoma' 'Ureter Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Ureter Small Cell Carcinoma' SubClassOf 'Ureter Carcinoma' 'Ureter Small Cell Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000617 Vaginal Adenoid Cystic Carcinoma 'Vaginal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Vaginal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000618 Vaginal Carcinosarcoma 'Vaginal Carcinosarcoma' SubClassOf 'malignant vaginal mixed epithelial and mesenchymal neoplasm' 'Vaginal Carcinosarcoma' SubClassOf 'malignant vaginal mixed epithelial and mesenchymal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000616 Uveal Melanoma 'Uveal Melanoma' SubClassOf 'Ocular Melanoma' 'Uveal Melanoma' SubClassOf 'uveal cancer' 'Uveal Melanoma' SubClassOf 'Ocular Melanoma' 'Uveal Melanoma' SubClassOf 'uveal cancer' http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma 'Uterine Carcinosarcoma' SubClassOf 'carcinosarcoma' 'Uterine Carcinosarcoma' SubClassOf 'uterine cancer' 'Uterine Carcinosarcoma' SubClassOf 'carcinosarcoma' 'Uterine Carcinosarcoma' SubClassOf 'uterine cancer' http://www.ebi.ac.uk/efo/EFO_1000612 Usual Ductal Breast Hyperplasia 'Usual Ductal Breast Hyperplasia' SubClassOf 'hyperplasia' 'Usual Ductal Breast Hyperplasia' SubClassOf 'breast intraductal proliferative lesion' 'Usual Ductal Breast Hyperplasia' SubClassOf 'hyperplasia' 'Usual Ductal Breast Hyperplasia' SubClassOf 'breast intraductal proliferative lesion' http://www.ebi.ac.uk/efo/EFO_1000619 Vaginal Melanoma 'Vaginal Melanoma' SubClassOf 'mucosal melanoma' 'Vaginal Melanoma' SubClassOf 'Vaginal neoplasm' 'Vaginal Melanoma' SubClassOf 'mucosal melanoma' 'Vaginal Melanoma' SubClassOf 'Vaginal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021804 silicotuberculosis 'silicotuberculosis' SubClassOf 'silicosis' 'silicotuberculosis' SubClassOf 'pulmonary tuberculosis' 'silicotuberculosis' SubClassOf 'silicosis' 'silicotuberculosis' SubClassOf 'pulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_1000741 neurotic excoriation 'neurotic excoriation' SubClassOf 'dermatitis' 'neurotic excoriation' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000742 nodular nonsuppurative panniculitis 'nodular nonsuppurative panniculitis' SubClassOf 'panniculitis' 'nodular nonsuppurative panniculitis' SubClassOf 'subcutaneous tissue disorder' 'nodular nonsuppurative panniculitis' SubClassOf 'panniculitis' 'nodular nonsuppurative panniculitis' SubClassOf 'subcutaneous tissue disorder' http://www.ebi.ac.uk/efo/EFO_1000740 neurodermatitis 'neurodermatitis' SubClassOf 'dermatitis' 'neurodermatitis' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000749 pemphigus 'pemphigus' SubClassOf 'autoimmune bullous skin disease' 'pemphigus' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_1000747 parapsoriasis 'parapsoriasis' SubClassOf 'psoriasis' 'parapsoriasis' SubClassOf 'psoriasis' http://www.ebi.ac.uk/efo/EFO_1000748 pelvic lipomatosis 'pelvic lipomatosis' SubClassOf 'lipomatosis' 'pelvic lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000745 palmoplantar keratosis 'palmoplantar keratosis' SubClassOf 'keratosis' 'palmoplantar keratosis' SubClassOf 'keratosis' http://www.ebi.ac.uk/efo/EFO_1000746 panniculitis 'panniculitis' SubClassOf 'connective tissue disease' 'panniculitis' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_1000744 occupational dermatitis 'occupational dermatitis' SubClassOf 'contact dermatitis' 'occupational dermatitis' SubClassOf 'contact dermatitis' http://www.ebi.ac.uk/efo/EFO_1000753 phototoxic dermatitis 'phototoxic dermatitis' SubClassOf 'irritant dermatitis' 'phototoxic dermatitis' SubClassOf 'photosensitivity disease' 'phototoxic dermatitis' SubClassOf 'irritant dermatitis' 'phototoxic dermatitis' SubClassOf 'photosensitivity disease' http://www.ebi.ac.uk/efo/EFO_1000750 perinatal jaundice due to hepatocellular damage 'perinatal jaundice due to hepatocellular damage' SubClassOf 'liver disease' 'perinatal jaundice due to hepatocellular damage' SubClassOf 'liver disease' http://www.ebi.ac.uk/efo/EFO_1000758 punctate palmoplantar keratoderma type III 'punctate palmoplantar keratoderma type III' SubClassOf 'punctate palmoplantar keratoderma' 'punctate palmoplantar keratoderma type III' SubClassOf 'punctate palmoplantar keratoderma' http://www.ebi.ac.uk/efo/EFO_1000759 reactive cutaneous fibrous lesion 'reactive cutaneous fibrous lesion' SubClassOf 'skin disease' 'reactive cutaneous fibrous lesion' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000756 pityriasis rosea 'psoriasis' DisjointWith 'pityriasis rosea' 'pityriasis rosea' SubClassOf 'dermatitis' 'pityriasis rosea' SubClassOf 'exanthem' 'psoriasis' DisjointWith 'pityriasis rosea' 'pityriasis rosea' SubClassOf 'dermatitis' 'pityriasis rosea' SubClassOf 'exanthem' http://www.ebi.ac.uk/efo/EFO_1000757 porokeratosis 'porokeratosis' SubClassOf 'keratosis' 'porokeratosis' SubClassOf 'epidermal disease' 'porokeratosis' SubClassOf 'keratosis' 'porokeratosis' SubClassOf 'epidermal disease' http://www.ebi.ac.uk/efo/EFO_1000754 physical urticaria 'physical urticaria' SubClassOf 'urticaria' 'physical urticaria' SubClassOf 'urticaria' http://purl.obolibrary.org/obo/MONDO_0021812 adnexal spiradenoma/cylindroma of a sweat gland 'adnexal spiradenoma/cylindroma of a sweat gland' SubClassOf 'benign neoplasm of sweat gland' 'adnexal spiradenoma/cylindroma of a sweat gland' SubClassOf 'benign neoplasm of sweat gland' http://www.ebi.ac.uk/efo/EFO_1000763 sebaceous gland disease 'sebaceous gland disease' SubClassOf 'skin disease' 'sebaceous gland disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000764 seborrheic dermatitis 'seborrheic dermatitis' SubClassOf 'dermatitis' 'seborrheic dermatitis' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000761 scalp dermatosis 'scalp dermatosis' SubClassOf 'skin disease' 'scalp dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000762 scleredema adultorum 'scleredema adultorum' SubClassOf 'cutaneous mucinosis' 'scleredema adultorum' SubClassOf 'cutaneous mucinosis' http://www.ebi.ac.uk/efo/EFO_1000760 rosacea 'rosacea' SubClassOf 'skin disease' 'rosacea' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000769 steroid lipomatosis 'steroid lipomatosis' SubClassOf 'lipomatosis' 'steroid lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000767 skin sarcoidosis 'skin sarcoidosis' SubClassOf 'sarcoidosis' 'skin sarcoidosis' SubClassOf 'sarcoidosis' http://www.ebi.ac.uk/efo/EFO_1000765 seborrheic infantile dermatitis 'seborrheic infantile dermatitis' SubClassOf 'seborrheic dermatitis' 'seborrheic infantile dermatitis' SubClassOf 'seborrheic dermatitis' http://www.ebi.ac.uk/efo/EFO_1000766 skin atrophy 'skin atrophy' SubClassOf 'skin disease' 'skin atrophy' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000774 vesiculobullous skin disease 'vesiculobullous skin disease' SubClassOf 'skin disease' 'vesiculobullous skin disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000775 vibratory urticaria 'vibratory urticaria' SubClassOf 'physical urticaria' 'vibratory urticaria' SubClassOf 'physical urticaria' http://www.ebi.ac.uk/efo/EFO_1000772 sweat gland disease 'sweat gland disease' SubClassOf 'skin disease' 'sweat gland disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000773 toxicodendron dermatitis 'toxicodendron dermatitis' SubClassOf 'allergic contact dermatitis' 'toxicodendron dermatitis' SubClassOf 'allergic contact dermatitis' http://www.ebi.ac.uk/efo/EFO_1000770 stromal corneal pigmentation 'stromal corneal pigmentation' SubClassOf 'corneal deposit' 'stromal corneal pigmentation' SubClassOf 'corneal deposit' http://www.ebi.ac.uk/efo/EFO_1000771 subcorneal pustular dermatosis 'subcorneal pustular dermatosis' SubClassOf 'autoimmune bullous skin disease' 'subcorneal pustular dermatosis' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_1000778 vulvar inverted follicular keratosis 'vulvar inverted follicular keratosis' SubClassOf 'inverted follicular keratosis' 'vulvar inverted follicular keratosis' SubClassOf 'vulvar seborrheic keratosis' 'vulvar inverted follicular keratosis' SubClassOf 'inverted follicular keratosis' 'vulvar inverted follicular keratosis' SubClassOf 'vulvar seborrheic keratosis' http://www.ebi.ac.uk/efo/EFO_1000779 vulvar seborrheic keratosis 'vulvar seborrheic keratosis' SubClassOf 'seborrheic keratosis' 'vulvar seborrheic keratosis' SubClassOf 'vulvar squamous neoplasm' 'vulvar seborrheic keratosis' SubClassOf 'seborrheic keratosis' 'vulvar seborrheic keratosis' SubClassOf 'vulvar squamous neoplasm' http://www.ebi.ac.uk/efo/EFO_1000776 viral exanthem 'viral exanthem' SubClassOf 'exanthem' 'viral exanthem' SubClassOf 'exanthem' http://www.ebi.ac.uk/efo/EFO_1000777 vulva fibroepithelial polyp 'vulva fibroepithelial polyp' SubClassOf 'fibroepithelial polyp' 'vulva fibroepithelial polyp' SubClassOf 'polyp of vulva' 'vulva fibroepithelial polyp' SubClassOf 'fibroepithelial polyp' 'vulva fibroepithelial polyp' SubClassOf 'polyp of vulva' http://www.ebi.ac.uk/efo/EFO_1000785 Sezary's disease 'Sezary's disease' SubClassOf 'Cutaneous T-cell lymphoma' 'Sezary's disease' SubClassOf 'Cutaneous T-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000786 osteoarthritis, hip 'osteoarthritis, hip' SubClassOf 'osteoarthritis' 'osteoarthritis, hip' SubClassOf 'osteoarthritis' http://www.ebi.ac.uk/efo/EFO_1000783 diabetic neuropathy 'diabetic neuropathy' SubClassOf 'peripheral neuropathy' 'diabetic neuropathy' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_1000784 microscopic polyangiitis 'microscopic polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' 'microscopic polyangiitis' SubClassOf 'Arteritis' 'microscopic polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' 'microscopic polyangiitis' SubClassOf 'Arteritis' http://www.ebi.ac.uk/efo/EFO_1000781 overactive bladder 'overactive bladder' SubClassOf 'bladder disease' 'overactive bladder' SubClassOf 'bladder disease' http://www.ebi.ac.uk/efo/EFO_1000782 altitude sickness 'altitude sickness' SubClassOf 'respiratory system disease' 'altitude sickness' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_1000780 autoimmune pancreatitis type 1 'autoimmune pancreatitis type 1' SubClassOf 'chronic pancreatitis' 'autoimmune pancreatitis type 1' SubClassOf 'autoimmune pancreatitis' 'autoimmune pancreatitis type 1' SubClassOf 'chronic pancreatitis' 'autoimmune pancreatitis type 1' SubClassOf 'autoimmune pancreatitis' http://www.ebi.ac.uk/efo/EFO_1000789 osteoarthritis, hand 'osteoarthritis, hand' SubClassOf 'osteoarthritis' 'osteoarthritis, hand' SubClassOf 'osteoarthritis' http://www.ebi.ac.uk/efo/EFO_1000787 osteoarthritis, spine 'osteoarthritis, spine' SubClassOf 'osteoarthritis' 'osteoarthritis, spine' SubClassOf 'osteoarthritis' http://www.ebi.ac.uk/efo/EFO_1000788 osteoarthritis, toe 'osteoarthritis, toe' SubClassOf 'osteoarthritis' 'osteoarthritis, toe' SubClassOf 'osteoarthritis' http://www.ebi.ac.uk/efo/EFO_1000796 adrenal cortex carcinoma 'adrenal cortex carcinoma' SubClassOf 'malignant tumor of adrenal cortex' 'adrenal cortex carcinoma' SubClassOf 'malignant tumor of adrenal cortex' http://www.ebi.ac.uk/efo/EFO_1000797 adrenal gland hyperfunction 'adrenal gland hyperfunction' SubClassOf 'adrenal cortex disorder' 'adrenal gland hyperfunction' SubClassOf 'adrenal cortex disorder' http://www.ebi.ac.uk/efo/EFO_1000794 acute kidney tubular necrosis 'acute kidney tubular necrosis' SubClassOf 'acute kidney failure' 'acute kidney tubular necrosis' SubClassOf 'acute kidney failure' http://www.ebi.ac.uk/efo/EFO_1000795 acute retinal necrosis syndrome 'acute retinal necrosis syndrome' SubClassOf 'retinitis' 'acute retinal necrosis syndrome' SubClassOf 'retinitis' http://www.ebi.ac.uk/efo/EFO_1000793 Actinobacillus infectious disease 'Actinobacillus infectious disease' SubClassOf 'bacterial disease' 'Actinobacillus infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1000790 acalculous cholecystitis 'acalculous cholecystitis' SubClassOf 'cystitis' 'acalculous cholecystitis' SubClassOf 'cystitis' http://www.ebi.ac.uk/efo/EFO_1000791 acidophil adenoma 'acidophil adenoma' SubClassOf 'Pituitary Gland Adenoma' 'acidophil adenoma' SubClassOf 'Pituitary Gland Adenoma' http://www.ebi.ac.uk/efo/EFO_1000799 afferent loop syndrome 'afferent loop syndrome' SubClassOf 'postgastrectomy syndrome' 'afferent loop syndrome' SubClassOf 'postgastrectomy syndrome' http://purl.obolibrary.org/obo/MONDO_0031200 Bryant-Li-Bhoj neurodevelopmental syndrome 'Bryant-Li-Bhoj neurodevelopmental syndrome' SubClassOf 'genetic disorder' 'Bryant-Li-Bhoj neurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0006267 liver cavernous hemangioma 'liver cavernous hemangioma' SubClassOf 'liver hemangioma' 'liver cavernous hemangioma' SubClassOf 'Cavernous Hemangioma' 'liver cavernous hemangioma' SubClassOf 'liver hemangioma' 'liver cavernous hemangioma' SubClassOf 'Cavernous Hemangioma' http://purl.obolibrary.org/obo/MONDO_0031219 mismatch repair cancer syndrome 'mismatch repair cancer syndrome' SubClassOf 'DNA repair deficiency' 'mismatch repair cancer syndrome' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0031213 restrictive dermopathy 'restrictive dermopathy' SubClassOf 'genetic disorder' 'restrictive dermopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031230 mitochondrial complex II deficiency, nuclear type 'mitochondrial complex II deficiency, nuclear type' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial complex II deficiency, nuclear type' SubClassOf 'inborn mitochondrial myopathy' http://www.ebi.ac.uk/efo/EFO_1000705 granulomatous dermatitis 'granulomatous dermatitis' SubClassOf 'dermatitis' 'granulomatous dermatitis' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000706 hand dermatosis 'hand dermatosis' SubClassOf 'skin disease' 'hand dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000703 fox fordyce disease 'fox fordyce disease' SubClassOf 'sweat gland disease' 'fox fordyce disease' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000704 granuloma annulare 'granuloma annulare' SubClassOf 'dermatitis' 'granuloma annulare' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000701 follicular mucinosis 'follicular mucinosis' SubClassOf 'alopecia' 'follicular mucinosis' SubClassOf 'sebaceous gland disease' 'follicular mucinosis' SubClassOf 'alopecia' 'follicular mucinosis' SubClassOf 'sebaceous gland disease' http://www.ebi.ac.uk/efo/EFO_1000702 folliculitis 'folliculitis' SubClassOf 'disorder of pilosebaceous unit' 'folliculitis' SubClassOf 'disorder of pilosebaceous unit' http://www.ebi.ac.uk/efo/EFO_1000700 fibroepithelial polyp of urethra 'fibroepithelial polyp of urethra' SubClassOf 'fibroepithelial polyp' 'fibroepithelial polyp of urethra' SubClassOf 'urethral disease' 'fibroepithelial polyp of urethra' SubClassOf 'fibroepithelial polyp' 'fibroepithelial polyp of urethra' SubClassOf 'urethral disease' http://www.ebi.ac.uk/efo/EFO_1000709 pemphigoid gestationis 'pemphigoid gestationis' SubClassOf 'pregnancy disorder' 'pemphigoid gestationis' SubClassOf 'pemphigus' 'pemphigoid gestationis' SubClassOf 'pemphigus' 'pemphigoid gestationis' SubClassOf 'pregnancy disorder' http://www.ebi.ac.uk/efo/EFO_1000707 hemangioma of subcutaneous tissue 'hemangioma of subcutaneous tissue' SubClassOf 'integumentary system benign neoplasm' 'hemangioma of subcutaneous tissue' SubClassOf 'hemangioma' 'hemangioma of subcutaneous tissue' SubClassOf 'integumentary system benign neoplasm' 'hemangioma of subcutaneous tissue' SubClassOf 'hemangioma' http://www.ebi.ac.uk/efo/EFO_1000708 hereditary papulotranslucent acrokeratoderma 'hereditary papulotranslucent acrokeratoderma' SubClassOf 'keratosis' 'hereditary papulotranslucent acrokeratoderma' SubClassOf 'keratosis' http://www.ebi.ac.uk/efo/EFO_0700022 lysosomal acid lipase deficiency 'lysosomal acid lipase deficiency' SubClassOf 'syndromic dyslipidemia' 'lysosomal acid lipase deficiency' SubClassOf 'lysosomal lipid storage disorder' 'lysosomal acid lipase deficiency' SubClassOf 'syndromic dyslipidemia' 'lysosomal acid lipase deficiency' SubClassOf 'lysosomal lipid storage disorder' http://www.ebi.ac.uk/efo/EFO_1000717 inverted follicular keratosis 'inverted follicular keratosis' SubClassOf 'seborrheic keratosis' 'inverted follicular keratosis' SubClassOf 'seborrheic keratosis' http://www.ebi.ac.uk/efo/EFO_0700020 Birt-Hogg-Dube syndrome 'Birt-Hogg-Dube syndrome' SubClassOf 'autosomal dominant disease' 'Birt-Hogg-Dube syndrome' SubClassOf 'autosomal dominant disease' 'Birt-Hogg-Dube syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000713 hypopigmentation of eyelid 'hypopigmentation of eyelid' SubClassOf 'eyelid disease' 'hypopigmentation of eyelid' SubClassOf 'eyelid disease' http://www.ebi.ac.uk/efo/EFO_1000710 hidradenitis suppurativa 'hidradenitis suppurativa' SubClassOf 'hidradenitis' 'hidradenitis suppurativa' SubClassOf 'hidradenitis' http://www.ebi.ac.uk/efo/EFO_1000711 hyperpigmentation of eyelid 'hyperpigmentation of eyelid' SubClassOf 'genetic disorder' 'hyperpigmentation of eyelid' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000718 irritant dermatitis 'irritant dermatitis' SubClassOf 'contact dermatitis' 'irritant dermatitis' SubClassOf 'contact dermatitis' http://www.ebi.ac.uk/efo/EFO_1000719 juvenile dermatitis herpetiformis 'juvenile dermatitis herpetiformis' SubClassOf 'dermatitis herpetiformis' 'juvenile dermatitis herpetiformis' SubClassOf 'dermatitis herpetiformis' http://www.ebi.ac.uk/efo/EFO_1000720 keratosis 'keratosis' SubClassOf 'skin disease' 'keratosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000727 lipodystrophy 'lipodystrophy' SubClassOf 'disease has major feature' some 'Lipodystrophy' 'lipodystrophy' SubClassOf 'metabolic disease' 'lipodystrophy' EquivalentTo 'disease' and ('disease has major feature' some 'Lipodystrophy') 'lipodystrophy' SubClassOf 'skin disease' 'lipodystrophy' SubClassOf 'metabolic disease' 'lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Lipodystrophy' 'lipodystrophy' SubClassOf 'skin disease' 'lipodystrophy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Lipodystrophy') http://www.ebi.ac.uk/efo/EFO_1000728 lipomatosis 'lipomatosis' SubClassOf 'benign lipomatous neoplasm' 'lipomatosis' SubClassOf 'benign lipomatous neoplasm' http://www.ebi.ac.uk/efo/EFO_1000725 lichen nitidus 'lichen nitidus' SubClassOf 'lichen disease' 'lichen nitidus' SubClassOf 'lichen disease' http://www.ebi.ac.uk/efo/EFO_1000726 lichen planus 'lichen planus' SubClassOf 'dermatitis' 'lichen planus' SubClassOf 'lichen disease' 'lichen planus' SubClassOf 'dermatitis' 'lichen planus' SubClassOf 'lichen disease' http://purl.obolibrary.org/obo/MONDO_0031280 Stuve-Wiedemann syndrome 'Stuve-Wiedemann syndrome' SubClassOf 'genetic disorder' 'Stuve-Wiedemann syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000723 leg dermatosis 'leg dermatosis' SubClassOf 'skin disease' 'leg dermatosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000724 lichen disease 'lichen disease' SubClassOf 'skin disease' 'lichen disease' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000721 kernicterus due to isoimmunization 'kernicterus due to isoimmunization' SubClassOf 'bilirubin encephalopathy' 'kernicterus due to isoimmunization' SubClassOf 'neonatal anemia' 'kernicterus due to isoimmunization' SubClassOf 'bilirubin encephalopathy' 'kernicterus due to isoimmunization' SubClassOf 'neonatal anemia' http://www.ebi.ac.uk/efo/EFO_1000722 Kimura disease 'Kimura disease' SubClassOf 'type II hypersensitivity reaction disease' 'Kimura disease' SubClassOf 'lymphadenitis' 'Kimura disease' SubClassOf 'type II hypersensitivity reaction disease' 'Kimura disease' SubClassOf 'lymphadenitis' http://www.ebi.ac.uk/efo/EFO_1000729 loiasis 'loiasis' SubClassOf 'filariasis' 'loiasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_1000730 Ludwig's angina 'Ludwig's angina' SubClassOf 'mouth disease' 'Ludwig's angina' SubClassOf 'cellulitis' 'Ludwig's angina' SubClassOf 'mouth disease' 'Ludwig's angina' SubClassOf 'cellulitis' http://www.ebi.ac.uk/efo/EFO_1000731 maxillary sinus cholesteatoma 'maxillary sinus cholesteatoma' SubClassOf 'paranasal sinus disease' 'maxillary sinus cholesteatoma' SubClassOf 'cholesteatoma' 'maxillary sinus cholesteatoma' SubClassOf 'paranasal sinus disease' 'maxillary sinus cholesteatoma' SubClassOf 'cholesteatoma' http://www.ebi.ac.uk/efo/EFO_1000738 necrobiosis lipoidica 'necrobiosis lipoidica' SubClassOf 'dermis disorder' 'necrobiosis lipoidica' SubClassOf 'dermis disorder' http://www.ebi.ac.uk/efo/EFO_1000736 mongolian spot 'mongolian spot' SubClassOf 'skin disease' 'mongolian spot' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000737 multiple symmetric lipomatosis 'multiple symmetric lipomatosis' SubClassOf 'lipomatosis' 'multiple symmetric lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'multiple symmetric lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'multiple symmetric lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000734 miliaria 'miliaria' SubClassOf 'syndromic disease' 'miliaria' SubClassOf 'sweat gland disease' 'miliaria' SubClassOf 'syndromic disease' 'miliaria' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000735 miliaria rubra 'miliaria rubra' SubClassOf 'miliaria' 'miliaria rubra' SubClassOf 'miliaria' http://www.ebi.ac.uk/efo/EFO_1000732 mediastinal lipomatosis 'mediastinal lipomatosis' SubClassOf 'lipomatosis' 'mediastinal lipomatosis' SubClassOf 'lipomatosis' http://www.ebi.ac.uk/efo/EFO_1000733 melanoacanthoma 'melanoacanthoma' SubClassOf 'seborrheic keratosis' 'melanoacanthoma' SubClassOf 'seborrheic keratosis' http://www.ebi.ac.uk/efo/EFO_0700095 type 1 interferonopathy 'type 1 interferonopathy' SubClassOf 'autoinflammatory syndrome' 'type 1 interferonopathy' SubClassOf 'autoinflammatory syndrome' http://www.ebi.ac.uk/efo/EFO_1000467 Peritoneal Mesothelioma 'Peritoneal Mesothelioma' SubClassOf 'peritoneal neoplasm' 'Peritoneal Mesothelioma' SubClassOf 'mesothelioma' 'Peritoneal Mesothelioma' SubClassOf 'peritoneal neoplasm' 'Peritoneal Mesothelioma' SubClassOf 'mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000464 PEComa 'PEComa' SubClassOf 'Soft Tissue Neoplasm' 'PEComa' SubClassOf 'Soft Tissue Neoplasm' http://www.ebi.ac.uk/efo/EFO_1000465 Penile Carcinoma 'Penile Carcinoma' SubClassOf 'penile cancer' 'Penile Carcinoma' SubClassOf 'carcinoma' 'Penile Carcinoma' SubClassOf 'penile cancer' 'Penile Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000463 Parotid Gland Squamous Cell Carcinoma 'Parotid Gland Squamous Cell Carcinoma' SubClassOf 'Parotid Gland Carcinoma' 'Parotid Gland Squamous Cell Carcinoma' SubClassOf 'Parotid Gland Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000460 Parotid Gland Carcinoma 'Parotid Gland Carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Parotid Gland Carcinoma' SubClassOf 'parotid gland cancer' 'Parotid Gland Carcinoma' SubClassOf 'Major Salivary Gland Carcinoma' 'Parotid Gland Carcinoma' SubClassOf 'parotid gland cancer' http://www.ebi.ac.uk/efo/EFO_1000461 Parotid Gland Carcinoma ex Pleomorphic Adenoma 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Parotid Gland Carcinoma' 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Parotid Gland Carcinoma' 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' http://www.ebi.ac.uk/efo/EFO_1000468 Peritoneal Multicystic Mesothelioma 'Peritoneal Multicystic Mesothelioma' SubClassOf 'Peritoneal Mesothelioma' 'Peritoneal Multicystic Mesothelioma' SubClassOf 'Peritoneal Mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000469 Peritoneal Well Differentiated Papillary Mesothelioma 'Peritoneal Well Differentiated Papillary Mesothelioma' SubClassOf 'well differentiated papillary mesothelioma' 'Peritoneal Well Differentiated Papillary Mesothelioma' SubClassOf 'Peritoneal Mesothelioma' 'Peritoneal Well Differentiated Papillary Mesothelioma' SubClassOf 'well differentiated papillary mesothelioma' 'Peritoneal Well Differentiated Papillary Mesothelioma' SubClassOf 'Peritoneal Mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000470 Peutz-Jeghers Polyp 'Peutz-Jeghers Polyp' SubClassOf 'Gastrointestinal Hamartoma' 'Peutz-Jeghers Polyp' SubClassOf 'Gastrointestinal Hamartoma' http://www.ebi.ac.uk/efo/EFO_1000477 Pituicytoma 'Pituicytoma' SubClassOf 'posterior pituitary gland neoplasm' 'Pituicytoma' SubClassOf 'low-grade astrocytoma' 'Pituicytoma' SubClassOf 'low-grade astrocytoma' 'Pituicytoma' SubClassOf 'posterior pituitary gland neoplasm' http://www.ebi.ac.uk/efo/EFO_1000478 Pituitary Gland Adenoma 'Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Pituitary Gland Adenoma' SubClassOf 'pituitary tumor' 'Pituitary Gland Adenoma' SubClassOf 'adenoma' 'Pituitary Gland Adenoma' SubClassOf 'pituitary tumor' http://www.ebi.ac.uk/efo/EFO_1000475 Pineoblastoma 'Pineoblastoma' SubClassOf 'pineal gland cancer' 'Pineoblastoma' SubClassOf 'embryonal neoplasm' 'Pineoblastoma' SubClassOf 'pineal gland cancer' 'Pineoblastoma' SubClassOf 'embryonal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000476 Pineocytoma 'Pineocytoma' SubClassOf 'benign endocrine neoplasm' 'Pineocytoma' SubClassOf 'pineal parenchymal cell neoplasm' 'Pineocytoma' SubClassOf 'Benign Brain Neoplasm' 'Pineocytoma' SubClassOf 'benign endocrine neoplasm' 'Pineocytoma' SubClassOf 'pineal parenchymal cell neoplasm' 'Pineocytoma' SubClassOf 'Benign Brain Neoplasm' http://www.ebi.ac.uk/efo/EFO_1000473 Phosphaturic Mesenchymal Tumor 'Phosphaturic Mesenchymal Tumor' SubClassOf 'neoplasm' 'Phosphaturic Mesenchymal Tumor' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000474 Pineal Parenchymal Tumor of Intermediate Differentiation 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf 'pineal parenchymal cell neoplasm' 'Pineal Parenchymal Tumor of Intermediate Differentiation' SubClassOf 'pineal parenchymal cell neoplasm' http://www.ebi.ac.uk/efo/EFO_1000472 Pharyngeal Adenoid Cystic Carcinoma 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'carcinoma of pharynx' 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'pharynx cancer' 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'carcinoma of pharynx' 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Pharyngeal Adenoid Cystic Carcinoma' SubClassOf 'pharynx cancer' http://www.ebi.ac.uk/efo/EFO_1000479 Placental Choriocarcinoma 'Placental Choriocarcinoma' SubClassOf 'gestational choriocarcinoma' 'Placental Choriocarcinoma' SubClassOf 'placenta cancer' 'Placental Choriocarcinoma' SubClassOf 'gestational choriocarcinoma' 'Placental Choriocarcinoma' SubClassOf 'placenta cancer' http://www.ebi.ac.uk/efo/EFO_1000480 Placental Hemangioma 'Placental Hemangioma' SubClassOf 'Tuberculosis, Cutaneous' 'Placental Hemangioma' SubClassOf 'Tuberculosis, Cutaneous' http://www.ebi.ac.uk/efo/EFO_1000481 Plantar Fibromatosis 'Plantar Fibromatosis' SubClassOf 'Superficial Fibromatosis' 'Plantar Fibromatosis' SubClassOf 'Superficial Fibromatosis' http://www.ebi.ac.uk/efo/EFO_1000489 Poorly Differentiated Thyroid Gland Carcinoma 'Poorly Differentiated Thyroid Gland Carcinoma' SubClassOf 'adenocarcinoma' 'Poorly Differentiated Thyroid Gland Carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000486 Pleural Sarcomatoid Mesothelioma 'Pleural Sarcomatoid Mesothelioma' SubClassOf 'Sarcomatoid Mesothelioma' 'Pleural Sarcomatoid Mesothelioma' SubClassOf 'malignant pleural mesothelioma' 'Pleural Sarcomatoid Mesothelioma' SubClassOf 'Sarcomatoid Mesothelioma' 'Pleural Sarcomatoid Mesothelioma' SubClassOf 'malignant pleural mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000487 Plexiform Ameloblastoma 'Plexiform Ameloblastoma' SubClassOf 'ameloblastoma' 'Plexiform Ameloblastoma' SubClassOf 'ameloblastoma' http://www.ebi.ac.uk/efo/EFO_1000484 Pleural Epithelioid Mesothelioma 'Pleural Epithelioid Mesothelioma' SubClassOf 'malignant pleural mesothelioma' 'Pleural Epithelioid Mesothelioma' SubClassOf 'malignant epithelioid mesothelioma' 'Pleural Epithelioid Mesothelioma' SubClassOf 'malignant pleural mesothelioma' 'Pleural Epithelioid Mesothelioma' SubClassOf 'malignant epithelioid mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000485 Pleural Mesothelioma 'Pleural Mesothelioma' SubClassOf 'mesothelioma' 'Pleural Mesothelioma' SubClassOf 'pleural neoplasm' 'Pleural Mesothelioma' SubClassOf 'mesothelioma' 'Pleural Mesothelioma' SubClassOf 'pleural neoplasm' http://www.ebi.ac.uk/efo/EFO_1000483 Pleural Biphasic Mesothelioma 'Pleural Biphasic Mesothelioma' SubClassOf 'Biphasic Mesothelioma' 'Pleural Biphasic Mesothelioma' SubClassOf 'Biphasic Mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000491 Primary Effusion Lymphoma 'Primary Effusion Lymphoma' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'Primary Effusion Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Primary Effusion Lymphoma' SubClassOf 'human herpesvirus 8-related tumor' 'Primary Effusion Lymphoma' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'Primary Effusion Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Primary Effusion Lymphoma' SubClassOf 'human herpesvirus 8-related tumor' http://www.ebi.ac.uk/efo/EFO_1000492 Primary Intraosseous Squamous Cell Carcinoma 'Primary Intraosseous Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'Primary Intraosseous Squamous Cell Carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000490 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'diffuse large B-cell lymphoma' 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'diffuse large B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000499 Prostate Small Cell Carcinoma 'Prostate Small Cell Carcinoma' SubClassOf 'prostate carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf 'prostate neuroendocrine neoplasm' 'Prostate Small Cell Carcinoma' SubClassOf 'prostate carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Prostate Small Cell Carcinoma' SubClassOf 'prostate neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000497 Prolactin-Producing Pituitary Gland Carcinoma 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'pituitary adenocarcinoma' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'prolactin producing pituitary tumor' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'pituitary adenocarcinoma' 'Prolactin-Producing Pituitary Gland Carcinoma' SubClassOf 'prolactin producing pituitary tumor' http://www.ebi.ac.uk/efo/EFO_1000498 Prostate Rhabdomyosarcoma 'Prostate Rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'Prostate Rhabdomyosarcoma' SubClassOf 'prostate sarcoma' 'Prostate Rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'Prostate Rhabdomyosarcoma' SubClassOf 'prostate sarcoma' http://www.ebi.ac.uk/efo/EFO_1000495 Primary Pulmonary Diffuse Large B-Cell Lymphoma 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf 'lung non-Hodgkin lymphoma' 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf 'lung non-Hodgkin lymphoma' 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000496 Prolactin-Producing Pituitary Gland Adenoma 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'prolactin producing pituitary tumor' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'familial isolated pituitary adenoma' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'prolactin producing pituitary tumor' 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'familial isolated pituitary adenoma' http://www.ebi.ac.uk/efo/EFO_1000494 Primary Peritoneal Serous Adenocarcinoma 'Primary Peritoneal Serous Adenocarcinoma' SubClassOf 'primary peritoneal carcinoma' 'Primary Peritoneal Serous Adenocarcinoma' SubClassOf 'primary peritoneal carcinoma' http://www.ebi.ac.uk/efo/EFO_1000400 Non-Neoplastic Bile Duct Disorder 'Non-Neoplastic Bile Duct Disorder' SubClassOf 'bile duct disorder' 'Non-Neoplastic Bile Duct Disorder' SubClassOf 'endocrine system disease' 'Non-Neoplastic Bile Duct Disorder' SubClassOf 'bile duct disorder' 'Non-Neoplastic Bile Duct Disorder' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_1000401 Non-Seminomatous Lesion 'Non-Seminomatous Lesion' SubClassOf 'neoplasm' 'Non-Seminomatous Lesion' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000408 Ossifying Fibromyxoid Tumor 'Ossifying Fibromyxoid Tumor' SubClassOf 'fibromyxoid tumor' 'Ossifying Fibromyxoid Tumor' SubClassOf 'fibromyxoid tumor' http://www.ebi.ac.uk/efo/EFO_1000406 Odontogenic Cyst 'Odontogenic Cyst' SubClassOf 'neoplasm' 'Odontogenic Cyst' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000407 Olfactory Neuroblastoma 'Olfactory Neuroblastoma' SubClassOf 'cranial nerve malignant neoplasm' 'Olfactory Neuroblastoma' SubClassOf 'extracranial neuroblastoma' 'Olfactory Neuroblastoma' SubClassOf 'olfactory nerve neoplasm' 'Olfactory Neuroblastoma' SubClassOf 'cranial nerve malignant neoplasm' 'Olfactory Neuroblastoma' SubClassOf 'extracranial neuroblastoma' 'Olfactory Neuroblastoma' SubClassOf 'olfactory nerve neoplasm' http://www.ebi.ac.uk/efo/EFO_1000404 Ocular Melanoma with Extraocular Extension 'Ocular Melanoma with Extraocular Extension' SubClassOf 'Ocular Melanoma' 'Ocular Melanoma with Extraocular Extension' SubClassOf 'Ocular Melanoma' http://www.ebi.ac.uk/efo/EFO_1000405 Ocular Sebaceous Carcinoma 'Ocular Sebaceous Carcinoma' SubClassOf 'sebaceous adenocarcinoma' 'Ocular Sebaceous Carcinoma' SubClassOf 'eye carcinoma' 'Ocular Sebaceous Carcinoma' SubClassOf 'sebaceous adenocarcinoma' 'Ocular Sebaceous Carcinoma' SubClassOf 'eye carcinoma' http://www.ebi.ac.uk/efo/EFO_1000402 Normal Breast-Like Subtype of Breast Carcinoma 'Normal Breast-Like Subtype of Breast Carcinoma' SubClassOf 'Breast Carcinoma by Gene Expression Profile' 'Normal Breast-Like Subtype of Breast Carcinoma' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://www.ebi.ac.uk/efo/EFO_1000403 Ocular Melanoma 'Ocular Melanoma' SubClassOf 'melanoma' 'Ocular Melanoma' SubClassOf 'ocular cancer' 'Ocular Melanoma' SubClassOf 'melanoma' 'Ocular Melanoma' SubClassOf 'ocular cancer' http://purl.obolibrary.org/obo/MONDO_0021726 abdominal cystic lymphangioma 'abdominal cystic lymphangioma' SubClassOf 'cystic lymphangioma' 'abdominal cystic lymphangioma' SubClassOf 'cystic lymphangioma' http://www.ebi.ac.uk/efo/EFO_1000412 Ovarian Carcinosarcoma 'Ovarian Carcinosarcoma' SubClassOf 'ovarian carcinoma' 'Ovarian Carcinosarcoma' SubClassOf 'carcinosarcoma' 'Ovarian Carcinosarcoma' SubClassOf 'ovarian endometrial cancer' 'Ovarian Carcinosarcoma' SubClassOf 'ovarian carcinoma' 'Ovarian Carcinosarcoma' SubClassOf 'carcinosarcoma' 'Ovarian Carcinosarcoma' SubClassOf 'ovarian endometrial cancer' http://www.ebi.ac.uk/efo/EFO_1000419 Ovarian Germ Cell Tumor 'Ovarian Germ Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Germ Cell Tumor' SubClassOf 'germ cell tumor' 'Ovarian Germ Cell Tumor' SubClassOf 'ovarian neoplasm' 'Ovarian Germ Cell Tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0021718 polyneuritis 'polyneuritis' SubClassOf 'neuritis' 'polyneuritis' SubClassOf 'polyneuropathy' 'polyneuritis' SubClassOf 'neuritis' 'polyneuritis' SubClassOf 'polyneuropathy' http://www.ebi.ac.uk/efo/EFO_1000417 Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation 'Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation' SubClassOf 'Ovarian Endometrioid Adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation' SubClassOf 'Ovarian Endometrioid Adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000418 Ovarian Endometriosis 'Ovarian Endometriosis' SubClassOf 'endometriosis' 'Ovarian Endometriosis' SubClassOf 'ovarian disease' 'Ovarian Endometriosis' SubClassOf 'endometriosis' 'Ovarian Endometriosis' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_1000415 Ovarian Embryonal Carcinoma 'Ovarian Embryonal Carcinoma' SubClassOf 'malignant non-dysgerminomatous germ cell tumor of ovary' 'Ovarian Embryonal Carcinoma' SubClassOf 'embryonal carcinoma' 'Ovarian Embryonal Carcinoma' SubClassOf 'malignant non-dysgerminomatous germ cell tumor of ovary' 'Ovarian Embryonal Carcinoma' SubClassOf 'embryonal carcinoma' http://www.ebi.ac.uk/efo/EFO_1000416 Ovarian Endometrioid Adenocarcinoma 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'ovarian endometrial cancer' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'ovarian endometrial cancer' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'Ovarian Endometrioid Adenocarcinoma' SubClassOf 'endometrioid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000413 Ovarian Choriocarcinoma 'Ovarian Choriocarcinoma' SubClassOf 'malignant germ cell tumor of ovary' 'Ovarian Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Ovarian Choriocarcinoma' SubClassOf 'malignant germ cell tumor of ovary' 'Ovarian Choriocarcinoma' SubClassOf 'choriocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000414 Ovarian Dysgerminoma 'Ovarian Dysgerminoma' SubClassOf 'dysgerminoma' 'Ovarian Dysgerminoma' SubClassOf 'ovarian primitive germ cell tumor' 'Ovarian Dysgerminoma' SubClassOf 'dysgerminoma' 'Ovarian Dysgerminoma' SubClassOf 'ovarian primitive germ cell tumor' http://www.ebi.ac.uk/efo/EFO_0000211 unspecified peripheral T-cell lymphoma 'unspecified peripheral T-cell lymphoma' SubClassOf 'lymphoma' 'unspecified peripheral T-cell lymphoma' SubClassOf 'neoplasm of mature T-cells or NK-cells' 'unspecified peripheral T-cell lymphoma' SubClassOf 'lymphoma' 'unspecified peripheral T-cell lymphoma' SubClassOf 'neoplasm of mature T-cells or NK-cells' http://www.ebi.ac.uk/efo/EFO_0000216 acinar cell carcinoma 'acinar cell carcinoma' SubClassOf 'adenocarcinoma' 'acinar cell carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000217 gastritis 'gastritis' SubClassOf 'stomach disease' 'gastritis' SubClassOf 'inflammatory disease' 'gastritis' SubClassOf 'stomach disease' 'gastritis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1000428 Ovarian Serous Adenofibroma 'Ovarian Serous Adenofibroma' SubClassOf 'Benign Ovarian Neoplasm' 'Ovarian Serous Adenofibroma' SubClassOf 'Benign Ovarian Neoplasm' http://www.ebi.ac.uk/efo/EFO_0000218 acute erythroleukemia 'acute erythroleukemia' SubClassOf 'erythroid neoplasm' 'acute erythroleukemia' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute erythroleukemia' SubClassOf 'erythroid neoplasm' 'acute erythroleukemia' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_1000424 Ovarian Microcystic Stromal Tumor 'Ovarian Microcystic Stromal Tumor' SubClassOf 'benign ovarian sex cord-stromal tumor' 'Ovarian Microcystic Stromal Tumor' SubClassOf 'benign ovarian sex cord-stromal tumor' http://www.ebi.ac.uk/efo/EFO_1000431 Ovarian Small Cell Carcinoma 'Ovarian Small Cell Carcinoma' SubClassOf 'ovarian carcinoma' 'Ovarian Small Cell Carcinoma' SubClassOf 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_0000200 plasma cell neoplasm 'plasma cell neoplasm' SubClassOf 'neoplasm of mature B-cells' 'plasma cell neoplasm' SubClassOf 'neoplasm of mature B-cells' http://www.ebi.ac.uk/efo/EFO_1000432 Ovarian Squamous Cell Carcinoma 'Ovarian Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Ovarian Squamous Cell Carcinoma' SubClassOf 'ovarian carcinoma' 'Ovarian Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Ovarian Squamous Cell Carcinoma' SubClassOf 'ovarian carcinoma' http://www.ebi.ac.uk/efo/EFO_0000203 monoclonal gammopathy 'monoclonal gammopathy' SubClassOf 'hematologic disease' 'monoclonal gammopathy' SubClassOf 'hematologic disease' http://www.ebi.ac.uk/efo/EFO_0000205 stage I endometrioid carcinoma 'stage I endometrioid carcinoma' SubClassOf 'endometrioid carcinoma' 'stage I endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma' 'stage I endometrioid carcinoma' SubClassOf 'endometrioid carcinoma' 'stage I endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#part_of_progression_of_disease some 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_0000206 stage II endometrioid carcinoma 'stage II endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma' 'stage II endometrioid carcinoma' SubClassOf 'endometrioid carcinoma' 'stage II endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#part_of_progression_of_disease some 'endometrial carcinoma' 'stage II endometrioid carcinoma' SubClassOf 'endometrioid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000439 Pancreatic Acinar Cell Carcinoma 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'pancreatic adenocarcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'pancreatic adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000437 Ovarian Yolk Sac Tumor 'Ovarian Yolk Sac Tumor' SubClassOf 'malignant non-dysgerminomatous germ cell tumor of ovary' 'Ovarian Yolk Sac Tumor' SubClassOf 'endodermal sinus tumor' 'Ovarian Yolk Sac Tumor' SubClassOf 'malignant non-dysgerminomatous germ cell tumor of ovary' 'Ovarian Yolk Sac Tumor' SubClassOf 'endodermal sinus tumor' http://www.ebi.ac.uk/efo/EFO_0000209 T-cell acute lymphoblastic leukemia 'T-cell acute lymphoblastic leukemia' SubClassOf 'T-cell leukemia' 'T-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'T-cell acute lymphoblastic leukemia' SubClassOf 'T-cell leukemia' 'T-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1000438 Palmar Fibromatosis 'Palmar Fibromatosis' SubClassOf 'Superficial Fibromatosis' 'Palmar Fibromatosis' SubClassOf 'Superficial Fibromatosis' http://www.ebi.ac.uk/efo/EFO_1000435 Ovarian Transitional Cell Carcinoma 'Ovarian Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Ovarian Transitional Cell Carcinoma' SubClassOf 'ovarian carcinoma' 'Ovarian Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Ovarian Transitional Cell Carcinoma' SubClassOf 'ovarian carcinoma' http://purl.obolibrary.org/obo/MONDO_0021736 proctosigmoiditis 'proctosigmoiditis' SubClassOf 'proctocolitis' 'proctosigmoiditis' SubClassOf 'proctocolitis' http://www.ebi.ac.uk/efo/EFO_1000444 Pancreatic Small Cell Neuroendocrine Carcinoma 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic endocrine carcinoma' 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'small cell carcinoma' 'Pancreatic Small Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic endocrine carcinoma' http://www.ebi.ac.uk/efo/EFO_0000231 adenoid cystic carcinoma 'adenoid cystic carcinoma' SubClassOf 'adenocarcinoma' 'adenoid cystic carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000232 adenoma 'adenoma' SubClassOf 'epithelial neoplasm' 'adenoma' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1000442 Pancreatic Large Cell Neuroendocrine Carcinoma 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic endocrine carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic endocrine carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'Pancreatic Large Cell Neuroendocrine Carcinoma' SubClassOf 'pancreatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0000233 adenosquamous lung carcinoma 'adenosquamous lung carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'adenosquamous lung carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_0000239 adrenal gland pheochromocytoma 'adrenal gland pheochromocytoma' SubClassOf 'sympathetic paraganglioma' 'adrenal gland pheochromocytoma' SubClassOf 'adrenal medulla neoplasm' 'adrenal gland pheochromocytoma' SubClassOf 'sympathetic paraganglioma' 'adrenal gland pheochromocytoma' SubClassOf 'adrenal medulla neoplasm' http://www.ebi.ac.uk/efo/EFO_1000448 Papillary Cystic Neoplasm 'Papillary Cystic Neoplasm' SubClassOf 'papillary epithelial neoplasm' 'Papillary Cystic Neoplasm' SubClassOf 'cystic neoplasm' 'Papillary Cystic Neoplasm' SubClassOf 'papillary epithelial neoplasm' 'Papillary Cystic Neoplasm' SubClassOf 'cystic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000455 Paranasal Sinus Schneiderian Papilloma 'Paranasal Sinus Schneiderian Papilloma' SubClassOf 'glandular papilloma' 'Paranasal Sinus Schneiderian Papilloma' SubClassOf 'paranasal sinus neoplasm' 'Paranasal Sinus Schneiderian Papilloma' SubClassOf 'glandular papilloma' 'Paranasal Sinus Schneiderian Papilloma' SubClassOf 'paranasal sinus neoplasm' http://www.ebi.ac.uk/efo/EFO_0000220 acute lymphoblastic leukemia 'acute lymphoblastic leukemia' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' 'acute lymphoblastic leukemia' SubClassOf 'lymphoid leukemia' 'acute lymphoblastic leukemia' SubClassOf 'neoplasm of immature B and T cells' 'acute lymphoblastic leukemia' SubClassOf 'non-Hodgkins lymphoma' 'acute lymphoblastic leukemia' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' 'acute lymphoblastic leukemia' SubClassOf 'lymphoid leukemia' 'acute lymphoblastic leukemia' SubClassOf 'neoplasm of immature B and T cells' 'acute lymphoblastic leukemia' SubClassOf 'non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma 'Parathyroid Gland Carcinoma' SubClassOf 'adenocarcinoma' 'Parathyroid Gland Carcinoma' SubClassOf 'malignant tumor of parathyroid gland' 'Parathyroid Gland Carcinoma' SubClassOf 'adenocarcinoma' 'Parathyroid Gland Carcinoma' SubClassOf 'malignant tumor of parathyroid gland' http://www.ebi.ac.uk/efo/EFO_1000453 Paraganglioma 'Paraganglioma' SubClassOf 'neurocristopathy' 'Paraganglioma' SubClassOf 'neuroendocrine neoplasm' 'Paraganglioma' SubClassOf 'autonomic nervous system neoplasm' 'Paraganglioma' SubClassOf 'neurocristopathy' 'Paraganglioma' SubClassOf 'neuroendocrine neoplasm' 'Paraganglioma' SubClassOf 'autonomic nervous system neoplasm' http://www.ebi.ac.uk/efo/EFO_0000221 acute monocytic leukemia 'acute monocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute monocytic leukemia' SubClassOf 'monocytic leukemia' 'acute monocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute monocytic leukemia' SubClassOf 'monocytic leukemia' http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia 'acute myeloid leukemia' SubClassOf 'myeloid leukemia' 'acute myeloid leukemia' SubClassOf 'myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000454 Paranasal Sinus Adenoid Cystic Carcinoma 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_0000223 acute myelomonocytic leukemia 'acute myelomonocytic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute myelomonocytic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0000224 acute promyelocytic leukemia 'acute promyelocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute promyelocytic leukemia' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000452 Parachordoma 'Parachordoma' SubClassOf 'myoepithelial tumor' 'Parachordoma' SubClassOf 'myoepithelial tumor' http://www.ebi.ac.uk/efo/EFO_0000225 acute quadriplegic myopathy 'acute quadriplegic myopathy' SubClassOf 'myopathy' 'acute quadriplegic myopathy' SubClassOf 'disease has location' some 'musculature' 'acute quadriplegic myopathy' SubClassOf 'myopathy' 'acute quadriplegic myopathy' SubClassOf 'disease has location' some 'musculature' http://www.ebi.ac.uk/efo/EFO_1000450 Papillary Transitional Cell Carcinoma 'Papillary Transitional Cell Carcinoma' SubClassOf 'papillary carcinoma' 'Papillary Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Papillary Transitional Cell Carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Papillary Transitional Cell Carcinoma' SubClassOf 'papillary carcinoma' http://www.ebi.ac.uk/efo/EFO_0000228 adenocarcinoma 'adenocarcinoma' SubClassOf 'glandular cell neoplasm' 'adenocarcinoma' SubClassOf 'carcinoma' 'adenocarcinoma' SubClassOf 'glandular cell neoplasm' 'adenocarcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000459 Parotid Gland Adenoid Cystic Carcinoma 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'Parotid Gland Carcinoma' 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'Parotid Gland Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000457 Parathyroid Hyperplasia 'Parathyroid Hyperplasia' SubClassOf 'hyperplasia' 'Parathyroid Hyperplasia' SubClassOf 'parathyroid disease' 'Parathyroid Hyperplasia' SubClassOf 'hyperplasia' 'Parathyroid Hyperplasia' SubClassOf 'parathyroid disease' http://www.ebi.ac.uk/efo/EFO_1000458 Parotid Gland Acinic Cell Carcinoma 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'Parotid Gland Carcinoma' 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Parotid Gland Acinic Cell Carcinoma' SubClassOf 'Parotid Gland Carcinoma' http://purl.obolibrary.org/obo/MONDO_0021783 streptococcal sore throat 'streptococcal sore throat' SubClassOf 'pharyngitis' 'streptococcal sore throat' SubClassOf 'pharyngitis' http://purl.obolibrary.org/obo/MONDO_0031115 dyskinesia with orofacial involvement 'dyskinesia with orofacial involvement' SubClassOf 'genetic disorder' 'dyskinesia with orofacial involvement' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0000174 Ewing sarcoma 'Ewing sarcoma' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'Ewing sarcoma' SubClassOf 'sarcoma' 'Ewing sarcoma' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'Ewing sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0000178 gastric carcinoma 'gastric carcinoma' SubClassOf 'gastric cancer' 'gastric carcinoma' SubClassOf 'Digestive System Carcinoma' 'gastric carcinoma' SubClassOf 'gastric cancer' 'gastric carcinoma' SubClassOf 'Digestive System Carcinoma' http://www.ebi.ac.uk/efo/EFO_0000191 MALT lymphoma 'MALT lymphoma' SubClassOf 'marginal zone B-cell lymphoma' 'MALT lymphoma' SubClassOf 'neoplasm of mature B-cells' 'MALT lymphoma' SubClassOf 'marginal zone B-cell lymphoma' 'MALT lymphoma' SubClassOf 'neoplasm of mature B-cells' http://www.ebi.ac.uk/efo/EFO_0000196 metastatic prostate cancer 'metastatic prostate cancer' SubClassOf 'prostate carcinoma' 'metastatic prostate cancer' SubClassOf 'prostate carcinoma' http://www.ebi.ac.uk/efo/EFO_0000197 mucinous carcinoma 'mucinous carcinoma' SubClassOf 'adenocarcinoma' 'mucinous carcinoma' EquivalentTo 'mucinous neoplasm' and 'adenocarcinoma' 'mucinous carcinoma' SubClassOf 'adenocarcinoma' 'mucinous carcinoma' EquivalentTo 'mucinous neoplasm' and 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000198 myelodysplastic syndrome 'myelodysplastic syndrome' SubClassOf 'neoplastic syndrome' 'myelodysplastic syndrome' SubClassOf 'myeloid hemopathy' 'myelodysplastic syndrome' SubClassOf 'neoplastic syndrome' 'myelodysplastic syndrome' SubClassOf 'myeloid hemopathy' http://purl.obolibrary.org/obo/MONDO_0031169 odontochondrodysplasia 'odontochondrodysplasia' SubClassOf 'spondylometaphyseal dysplasia' 'odontochondrodysplasia' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0031166 macular dystrophy, retinal 'macular dystrophy, retinal' SubClassOf 'hereditary macular dystrophy' 'macular dystrophy, retinal' SubClassOf 'hereditary macular dystrophy' http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma 'head and neck squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'head and neck squamous cell carcinoma' SubClassOf 'head and neck carcinoma' 'head and neck squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'head and neck squamous cell carcinoma' SubClassOf 'head and neck carcinoma' http://www.ebi.ac.uk/efo/EFO_0000182 hepatocellular carcinoma 'hepatocellular carcinoma' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'hepatocellular carcinoma' SubClassOf 'adenocarcinoma' 'hepatocellular carcinoma' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'hepatocellular carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0000183 Hodgkins lymphoma 'Hodgkins lymphoma' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'Hodgkins lymphoma' SubClassOf 'lymphoma' 'Hodgkins lymphoma' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'Hodgkins lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0000186 invasive breast ductal carcinoma 'invasive breast ductal carcinoma' SubClassOf 'breast ductal adenocarcinoma' 'invasive breast ductal carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'invasive breast ductal carcinoma' SubClassOf 'breast ductal adenocarcinoma' 'invasive breast ductal carcinoma' SubClassOf 'Invasive Breast Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000580 Thymic Undifferentiated Carcinoma 'Thymic Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thymic Undifferentiated Carcinoma' SubClassOf 'Thymic Carcinoma' 'Thymic Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thymic Undifferentiated Carcinoma' SubClassOf 'Thymic Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000587 Thyroid Gland Diffuse Large B-Cell Lymphoma 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000585 Thyroglossal Duct Cyst 'Thyroglossal Duct Cyst' SubClassOf 'neoplasm' 'Thyroglossal Duct Cyst' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000583 Thymoma Type B3 'Thymoma Type B3' SubClassOf 'thymoma type B' 'Thymoma Type B3' SubClassOf 'thymoma type B' http://www.ebi.ac.uk/efo/EFO_1000584 Thymoma Type B1 'Thymoma Type B1' SubClassOf 'thymoma type B' 'Thymoma Type B1' SubClassOf 'thymoma type B' http://www.ebi.ac.uk/efo/EFO_1000581 Thymoma 'Thymoma' SubClassOf 'thymic epithelial neoplasm' 'Thymoma' SubClassOf 'thymic epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1000582 Thymoma Type AB 'Thymoma Type AB' SubClassOf 'Thymoma' 'Thymoma Type AB' SubClassOf 'Thymoma' http://www.ebi.ac.uk/efo/EFO_1000590 Thyroid Gland Mucoepidermoid Carcinoma 'Thyroid Gland Mucoepidermoid Carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'Thyroid Gland Mucoepidermoid Carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000591 Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' http://www.ebi.ac.uk/efo/EFO_1000598 Tracheal Adenoid Cystic Carcinoma 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'Tracheal Carcinoma' 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'Tracheal Carcinoma' 'Tracheal Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000599 Tracheal Carcinoma 'Tracheal Carcinoma' SubClassOf 'tracheal cancer' 'Tracheal Carcinoma' SubClassOf 'carcinoma' 'Tracheal Carcinoma' SubClassOf 'tracheal cancer' 'Tracheal Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000596 Tibial Adamantinoma 'Tibial Adamantinoma' SubClassOf 'adamantinoma' 'Tibial Adamantinoma' SubClassOf 'adamantinoma' http://www.ebi.ac.uk/efo/EFO_1000594 Thyroid Gland Squamous Cell Carcinoma 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000595 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'large cell carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'large cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000592 Thyroid Gland Oncocytic Follicular Carcinoma 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'adenocarcinoma' 'Thyroid Gland Oncocytic Follicular Carcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000593 Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf 'thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000508 Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions 'Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions' SubClassOf 'renal cell adenocarcinoma' 'Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions' SubClassOf 'renal cell adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000505 Rectal Tubulovillous Adenoma 'Rectal Tubulovillous Adenoma' SubClassOf 'rectum adenoma' 'Rectal Tubulovillous Adenoma' SubClassOf 'rectum adenoma' http://www.ebi.ac.uk/efo/EFO_1000506 Rectal Villous Adenoma 'Rectal Villous Adenoma' SubClassOf 'villous adenoma' 'Rectal Villous Adenoma' SubClassOf 'rectum adenoma' 'Rectal Villous Adenoma' SubClassOf 'villous adenoma' 'Rectal Villous Adenoma' SubClassOf 'rectum adenoma' http://www.ebi.ac.uk/efo/EFO_1000503 Rectal Traditional Serrated Adenoma 'Rectal Traditional Serrated Adenoma' SubClassOf 'rectum adenoma' 'Rectal Traditional Serrated Adenoma' SubClassOf 'rectum adenoma' http://www.ebi.ac.uk/efo/EFO_1000504 Rectal Tubular Adenoma 'Rectal Tubular Adenoma' SubClassOf 'rectum adenoma' 'Rectal Tubular Adenoma' SubClassOf 'rectum adenoma' http://www.ebi.ac.uk/efo/EFO_1000501 Pyloric Gland Adenoma 'Pyloric Gland Adenoma' SubClassOf 'Gastric Adenoma' 'Pyloric Gland Adenoma' SubClassOf 'Gastric Adenoma' http://www.ebi.ac.uk/efo/EFO_1000502 Rectal Hyperplastic Polyp 'Rectal Hyperplastic Polyp' SubClassOf 'polyp of rectum' 'Rectal Hyperplastic Polyp' SubClassOf 'polyp of rectum' http://www.ebi.ac.uk/efo/EFO_1000509 Retinal Neoplasm 'Retinal Neoplasm' SubClassOf 'eye neoplasm' 'Retinal Neoplasm' SubClassOf 'eye neoplasm' http://www.ebi.ac.uk/efo/EFO_1000510 Retroperitoneal Inflammatory Myofibroblastic Tumor 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf 'inflammatory myofibroblastic tumor' 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf 'inflammatory myofibroblastic tumor' http://www.ebi.ac.uk/efo/EFO_1000519 Salivary Gland Small Cell Carcinoma 'Salivary Gland Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Salivary Gland Small Cell Carcinoma' SubClassOf 'salivary gland carcinoma' 'Salivary Gland Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Salivary Gland Small Cell Carcinoma' SubClassOf 'salivary gland carcinoma' http://www.ebi.ac.uk/efo/EFO_1000516 Salivary Gland Carcinoma ex Pleomorphic Adenoma 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma ex pleomorphic adenoma' 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'salivary gland carcinoma' 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'carcinoma ex pleomorphic adenoma' 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' SubClassOf 'salivary gland carcinoma' http://www.ebi.ac.uk/efo/EFO_1000517 Salivary Gland Large Cell Carcinoma 'Salivary Gland Large Cell Carcinoma' SubClassOf 'salivary gland carcinoma' 'Salivary Gland Large Cell Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Salivary Gland Large Cell Carcinoma' SubClassOf 'large cell carcinoma' 'Salivary Gland Large Cell Carcinoma' SubClassOf 'salivary gland carcinoma' 'Salivary Gland Large Cell Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Salivary Gland Large Cell Carcinoma' SubClassOf 'large cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000514 Salivary Gland Adenosquamous Carcinoma 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Salivary Gland Adenosquamous Carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000515 Salivary Gland Basal Cell Adenocarcinoma 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'disease has location' some 'basal cell' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'skin basal cell carcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'disease has location' some 'basal cell' 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf 'skin basal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000512 Rhabdoid Tumor of the Kidney 'Rhabdoid Tumor of the Kidney' SubClassOf 'malignant rhabdoid tumour' 'Rhabdoid Tumor of the Kidney' SubClassOf 'malignant rhabdoid tumour' http://www.ebi.ac.uk/efo/EFO_1000513 Salivary Gland Acinic Cell Carcinoma 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' 'Salivary Gland Acinic Cell Carcinoma' SubClassOf 'acinar cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000521 Sarcomatoid Mesothelioma 'Sarcomatoid Mesothelioma' SubClassOf 'Malignant Mesothelioma' 'Sarcomatoid Mesothelioma' SubClassOf 'Malignant Mesothelioma' http://www.ebi.ac.uk/efo/EFO_1000520 Sarcomatoid Carcinoma 'Sarcomatoid Carcinoma' SubClassOf 'carcinoma' 'Sarcomatoid Carcinoma' SubClassOf 'anaplastic cancer' 'Sarcomatoid Carcinoma' SubClassOf 'carcinoma' 'Sarcomatoid Carcinoma' SubClassOf 'anaplastic cancer' http://www.ebi.ac.uk/efo/EFO_1000529 Skin Basosquamous Cell Carcinoma 'Skin Basosquamous Cell Carcinoma' SubClassOf 'skin basal cell carcinoma' 'Skin Basosquamous Cell Carcinoma' SubClassOf 'disease has location' some 'basal cell' 'Skin Basosquamous Cell Carcinoma' SubClassOf 'skin basal cell carcinoma' 'Skin Basosquamous Cell Carcinoma' SubClassOf 'disease has location' some 'basal cell' http://www.ebi.ac.uk/efo/EFO_1000527 Sinonasal Undifferentiated Carcinoma 'Sinonasal Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' 'Sinonasal Undifferentiated Carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.ebi.ac.uk/efo/EFO_1000525 Simple Endometrial Hyperplasia 'Simple Endometrial Hyperplasia' SubClassOf 'hyperplasia' 'Simple Endometrial Hyperplasia' SubClassOf 'hyperplasia' http://www.ebi.ac.uk/efo/EFO_1000523 Sex Hormone-Producing Adrenal Cortex Adenoma 'Sex Hormone-Producing Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' 'Sex Hormone-Producing Adrenal Cortex Adenoma' SubClassOf 'adrenocortical adenoma' http://www.ebi.ac.uk/efo/EFO_1000524 Signet Ring Cell Gastric Adenocarcinoma 'Signet Ring Cell Gastric Adenocarcinoma' SubClassOf 'signet ring cell carcinoma' 'Signet Ring Cell Gastric Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'Signet Ring Cell Gastric Adenocarcinoma' SubClassOf 'signet ring cell carcinoma' 'Signet Ring Cell Gastric Adenocarcinoma' SubClassOf 'gastric adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0021605 benign eyelid neoplasm 'benign eyelid neoplasm' SubClassOf 'benign neoplasm of eye' 'benign eyelid neoplasm' SubClassOf 'eyelid neoplasm' 'benign eyelid neoplasm' SubClassOf 'benign neoplasm of eye' 'benign eyelid neoplasm' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0021607 eyelid seborrheic keratosis 'eyelid seborrheic keratosis' SubClassOf 'seborrheic keratosis' 'eyelid seborrheic keratosis' SubClassOf 'seborrheic keratosis' http://www.ebi.ac.uk/efo/EFO_1000532 small intestinal adenocarcinoma 'small intestinal adenocarcinoma' SubClassOf 'adenocarcinoma' 'small intestinal adenocarcinoma' SubClassOf 'small intestine carcinoma' 'small intestinal adenocarcinoma' SubClassOf 'adenocarcinoma' 'small intestinal adenocarcinoma' SubClassOf 'small intestine carcinoma' http://www.ebi.ac.uk/efo/EFO_1000533 Small Intestinal Burkitt Lymphoma 'Small Intestinal Burkitt Lymphoma' SubClassOf 'Burkitts lymphoma' 'Small Intestinal Burkitt Lymphoma' SubClassOf 'small intestine lymphoma' 'Small Intestinal Burkitt Lymphoma' SubClassOf 'Burkitts lymphoma' 'Small Intestinal Burkitt Lymphoma' SubClassOf 'small intestine lymphoma' http://www.ebi.ac.uk/efo/EFO_1000531 Skin Sarcoma 'Skin Sarcoma' SubClassOf 'malignant dermis tumor' 'Skin Sarcoma' SubClassOf 'soft tissue sarcoma' 'Skin Sarcoma' SubClassOf 'malignant dermis tumor' 'Skin Sarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_1000539 Small Intestinal Tubulovillous Adenoma 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'tubulovillous adenoma' 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'tubulovillous adenoma' http://www.ebi.ac.uk/efo/EFO_1000536 Small Intestinal Intraepithelial Neoplasia 'Small Intestinal Intraepithelial Neoplasia' SubClassOf 'colorectal neoplasm' 'Small Intestinal Intraepithelial Neoplasia' SubClassOf 'small intestine neoplasm' 'Small Intestinal Intraepithelial Neoplasia' SubClassOf 'colorectal neoplasm' 'Small Intestinal Intraepithelial Neoplasia' SubClassOf 'small intestine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000537 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'MALT lymphoma' http://www.ebi.ac.uk/efo/EFO_1000534 Small Intestinal Diffuse Large B-Cell Lymphoma 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'small intestine lymphoma' 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'small intestine lymphoma' http://www.ebi.ac.uk/efo/EFO_1000535 Small Intestinal Enteropathy-Associated T-Cell Lymphoma 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'enteropathy-associated T-cell lymphoma' 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'disease has location' some 'T cell' 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'enteropathy-associated T-cell lymphoma' 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf 'disease has location' some 'T cell' http://www.ebi.ac.uk/efo/EFO_1000543 Spinal Chordoma 'Spinal Chordoma' SubClassOf 'chordoma' 'Spinal Chordoma' SubClassOf 'chordoma' http://www.ebi.ac.uk/efo/EFO_1000544 Spinal Cord Astrocytoma 'Spinal Cord Astrocytoma' SubClassOf 'spinal cord glioma' 'Spinal Cord Astrocytoma' SubClassOf 'astrocytoma' 'Spinal Cord Astrocytoma' SubClassOf 'spinal cord glioma' 'Spinal Cord Astrocytoma' SubClassOf 'astrocytoma' http://www.ebi.ac.uk/efo/EFO_1000541 Soft Tissue Neoplasm 'Soft Tissue Neoplasm' SubClassOf 'connective and soft tissue neoplasm' 'Soft Tissue Neoplasm' SubClassOf 'connective and soft tissue neoplasm' http://www.ebi.ac.uk/efo/EFO_1000540 Soft Tissue Chondroma 'Soft Tissue Chondroma' SubClassOf 'chondroma' 'Soft Tissue Chondroma' SubClassOf 'benign soft tissue neoplasm' 'Soft Tissue Chondroma' SubClassOf 'chondroma' 'Soft Tissue Chondroma' SubClassOf 'benign soft tissue neoplasm' http://www.ebi.ac.uk/efo/EFO_1000549 Splenic Mantle Cell Lymphoma 'Splenic Mantle Cell Lymphoma' SubClassOf 'Mantle cell lymphoma' 'Splenic Mantle Cell Lymphoma' SubClassOf 'Mantle cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000547 Splenic Diffuse Large B-Cell Lymphoma 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000548 Splenic Hodgkin Lymphoma 'Splenic Hodgkin Lymphoma' SubClassOf 'Hodgkins lymphoma' 'Splenic Hodgkin Lymphoma' SubClassOf 'Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_1000545 Spinal Cord Primitive Neuroectodermal Tumor 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'spinal cord cancer' 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' 'Spinal Cord Primitive Neuroectodermal Tumor' SubClassOf 'spinal cord cancer' http://www.ebi.ac.uk/efo/EFO_1000546 Spindle Cell Melanoma 'Spindle Cell Melanoma' SubClassOf 'melanoma' 'Spindle Cell Melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/MONDO_0021627 eyelid capillary hemangioma 'eyelid capillary hemangioma' SubClassOf 'capillary hemangioma' 'eyelid capillary hemangioma' SubClassOf 'benign eyelid neoplasm' 'eyelid capillary hemangioma' SubClassOf 'capillary hemangioma' 'eyelid capillary hemangioma' SubClassOf 'benign eyelid neoplasm' http://www.ebi.ac.uk/efo/EFO_1000554 Submandibular Gland Adenocarcinoma 'Submandibular Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Submandibular Gland Adenocarcinoma' SubClassOf 'submandibular gland cancer' 'Submandibular Gland Adenocarcinoma' SubClassOf 'adenocarcinoma' 'Submandibular Gland Adenocarcinoma' SubClassOf 'submandibular gland cancer' http://www.ebi.ac.uk/efo/EFO_1000555 Submandibular Gland Adenoid Cystic Carcinoma 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'submandibular gland cancer' 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'submandibular gland cancer' http://www.ebi.ac.uk/efo/EFO_1000552 Subcutaneous Panniculitis-Like T-Cell Lymphoma 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf 'disease has location' some 'T cell' 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf 'indolent primary cutaneous T-cell lymphoma' 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf 'disease has location' some 'T cell' 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf 'indolent primary cutaneous T-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000553 Subependymoma 'Subependymoma' SubClassOf 'low grade ependymoma' 'Subependymoma' SubClassOf 'low grade ependymoma' http://www.ebi.ac.uk/efo/EFO_1000550 Splenic Marginal Zone Lymphoma 'Splenic Marginal Zone Lymphoma' SubClassOf 'marginal zone B-cell lymphoma' 'Splenic Marginal Zone Lymphoma' SubClassOf 'marginal zone B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000551 Stromal Predominant Kidney Wilms Tumor 'Stromal Predominant Kidney Wilms Tumor' SubClassOf 'kidney Wilms tumor' 'Stromal Predominant Kidney Wilms Tumor' SubClassOf 'kidney Wilms tumor' http://www.ebi.ac.uk/efo/EFO_1000558 Syringocystadenoma Papilliferum 'Syringocystadenoma Papilliferum' SubClassOf 'sweat gland adenoma' 'Syringocystadenoma Papilliferum' SubClassOf 'sweat gland adenoma' http://www.ebi.ac.uk/efo/EFO_1000559 Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'systemic mastocytosis' 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'systemic mastocytosis' http://www.ebi.ac.uk/efo/EFO_1000556 Superficial Fibromatosis 'Superficial Fibromatosis' SubClassOf 'fibromatosis' 'Superficial Fibromatosis' SubClassOf 'fibromatosis' http://www.ebi.ac.uk/efo/EFO_1000557 Synovial Chondromatosis 'Synovial Chondromatosis' SubClassOf 'musculoskeletal system disease' 'Synovial Chondromatosis' SubClassOf 'connective and soft tissue neoplasm' 'Synovial Chondromatosis' SubClassOf 'musculoskeletal system disease' 'Synovial Chondromatosis' SubClassOf 'connective and soft tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0021640 grade III glioma 'grade III glioma' SubClassOf 'malignant glioma' 'grade III glioma' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0021642 vulval varices 'vulval varices' SubClassOf 'pelvic varices' 'vulval varices' SubClassOf 'pelvic varices' http://www.ebi.ac.uk/efo/EFO_1000565 Testicular Embryonal Carcinoma 'Testicular Embryonal Carcinoma' SubClassOf 'testicular non-seminomatous germ cell cancer' 'Testicular Embryonal Carcinoma' SubClassOf 'testicular pure germ cell tumor' 'Testicular Embryonal Carcinoma' SubClassOf 'embryonal neoplasm' 'Testicular Embryonal Carcinoma' SubClassOf 'embryonal carcinoma' 'Testicular Embryonal Carcinoma' SubClassOf 'testicular non-seminomatous germ cell cancer' 'Testicular Embryonal Carcinoma' SubClassOf 'testicular pure germ cell tumor' 'Testicular Embryonal Carcinoma' SubClassOf 'embryonal neoplasm' 'Testicular Embryonal Carcinoma' SubClassOf 'embryonal carcinoma' http://www.ebi.ac.uk/efo/EFO_1000566 Testicular Germ Cell Tumor 'Testicular Germ Cell Tumor' SubClassOf 'neoplasm of testis' 'Testicular Germ Cell Tumor' SubClassOf 'gonadal germ cell tumor' 'Testicular Germ Cell Tumor' SubClassOf 'neoplasm of testis' 'Testicular Germ Cell Tumor' SubClassOf 'gonadal germ cell tumor' http://www.ebi.ac.uk/efo/EFO_1000563 Teratoma with Malignant Transformation 'Teratoma with Malignant Transformation' SubClassOf 'teratoma' 'Teratoma with Malignant Transformation' SubClassOf 'teratoma' http://www.ebi.ac.uk/efo/EFO_1000564 Testicular Choriocarcinoma 'Testicular Choriocarcinoma' SubClassOf 'testicular trophoblastic tumor' 'Testicular Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Testicular Choriocarcinoma' SubClassOf 'testicular non-seminomatous germ cell cancer' 'Testicular Choriocarcinoma' SubClassOf 'testicular trophoblastic tumor' 'Testicular Choriocarcinoma' SubClassOf 'choriocarcinoma' 'Testicular Choriocarcinoma' SubClassOf 'testicular non-seminomatous germ cell cancer' http://www.ebi.ac.uk/efo/EFO_1000561 Tendon Sheath Fibroma 'Tendon Sheath Fibroma' SubClassOf 'fibroma' 'Tendon Sheath Fibroma' SubClassOf 'fibroma' http://www.ebi.ac.uk/efo/EFO_1000562 Tenosynovial Giant Cell Tumor 'Tenosynovial Giant Cell Tumor' SubClassOf 'giant cell tumor' 'Tenosynovial Giant Cell Tumor' SubClassOf 'synovium neoplasm' 'Tenosynovial Giant Cell Tumor' SubClassOf 'giant cell tumor' 'Tenosynovial Giant Cell Tumor' SubClassOf 'synovium neoplasm' http://www.ebi.ac.uk/efo/EFO_1000560 T-Cell Prolymphocytic Leukemia 'T-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' 'T-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' http://purl.obolibrary.org/obo/MONDO_0021630 lipoma of face 'lipoma of face' SubClassOf 'head and neck neoplasia' 'lipoma of face' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0021631 brain astrocytoma 'brain astrocytoma' SubClassOf 'astrocytoma' 'brain astrocytoma' SubClassOf 'primary brain neoplasm' 'brain astrocytoma' SubClassOf 'astrocytoma' 'brain astrocytoma' SubClassOf 'primary brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0021632 primary brain neoplasm 'primary brain neoplasm' SubClassOf 'brain neoplasm' 'primary brain neoplasm' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_1000576 Thymic Carcinoma 'Thymic Carcinoma' SubClassOf 'carcinoma' 'Thymic Carcinoma' SubClassOf 'thymus cancer' 'Thymic Carcinoma' SubClassOf 'thymic epithelial neoplasm' 'Thymic Carcinoma' SubClassOf 'carcinoma' 'Thymic Carcinoma' SubClassOf 'thymus cancer' 'Thymic Carcinoma' SubClassOf 'thymic epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1000577 Thymic Sarcomatoid Carcinoma 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Thymic Carcinoma' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Thymic Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000574 Testicular Yolk Sac Tumor 'Testicular Yolk Sac Tumor' SubClassOf 'testicular non-seminomatous germ cell cancer' 'Testicular Yolk Sac Tumor' SubClassOf 'endodermal sinus tumor' 'Testicular Yolk Sac Tumor' SubClassOf 'testicular pure germ cell tumor' 'Testicular Yolk Sac Tumor' SubClassOf 'testicular non-seminomatous germ cell cancer' 'Testicular Yolk Sac Tumor' SubClassOf 'endodermal sinus tumor' 'Testicular Yolk Sac Tumor' SubClassOf 'testicular pure germ cell tumor' http://www.ebi.ac.uk/efo/EFO_1000573 Testicular Teratoma 'Testicular Teratoma' SubClassOf 'Testicular Germ Cell Tumor' 'Testicular Teratoma' SubClassOf 'Testicular Germ Cell Tumor' http://www.ebi.ac.uk/efo/EFO_1000570 Testicular Non-Seminomatous Germ Cell Tumor 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'Testicular Germ Cell Tumor' 'Testicular Non-Seminomatous Germ Cell Tumor' SubClassOf 'Testicular Germ Cell Tumor' http://www.ebi.ac.uk/efo/EFO_1000578 Thymic Small Cell Carcinoma 'Thymic Small Cell Carcinoma' SubClassOf 'small cell carcinoma' 'Thymic Small Cell Carcinoma' SubClassOf 'small cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000579 Thymic Squamous Cell Carcinoma 'Thymic Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Thymic Squamous Cell Carcinoma' SubClassOf 'Thymic Carcinoma' 'Thymic Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Thymic Squamous Cell Carcinoma' SubClassOf 'Thymic Carcinoma' http://purl.obolibrary.org/obo/MONDO_0021633 cerebral astrocytoma 'cerebral astrocytoma' SubClassOf 'brain astrocytoma' 'cerebral astrocytoma' SubClassOf 'neoplasm of cerebral hemisphere' 'cerebral astrocytoma' SubClassOf 'brain astrocytoma' 'cerebral astrocytoma' SubClassOf 'neoplasm of cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0021634 epithelial skin neoplasm 'epithelial skin neoplasm' SubClassOf 'epithelial neoplasm' 'epithelial skin neoplasm' SubClassOf 'skin neoplasm' 'epithelial skin neoplasm' SubClassOf 'epithelial neoplasm' 'epithelial skin neoplasm' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0021636 astrocytic tumor 'astrocytic tumor' SubClassOf 'glioma' 'astrocytic tumor' SubClassOf 'glioma' http://purl.obolibrary.org/obo/MONDO_0021637 low grade glioma 'low grade glioma' SubClassOf 'glioma' 'low grade glioma' SubClassOf 'glioma' http://purl.obolibrary.org/obo/MONDO_0021638 low grade astrocytic tumor 'low grade astrocytic tumor' SubClassOf 'astrocytic tumor' 'low grade astrocytic tumor' SubClassOf 'low grade glioma' 'low grade astrocytic tumor' SubClassOf 'astrocytic tumor' 'low grade astrocytic tumor' SubClassOf 'low grade glioma' http://purl.obolibrary.org/obo/MONDO_0021661 coronary atherosclerosis 'coronary atherosclerosis' SubClassOf 'atherosclerosis' 'coronary atherosclerosis' SubClassOf 'coronary artery disease' 'coronary atherosclerosis' SubClassOf 'atherosclerosis' 'coronary atherosclerosis' SubClassOf 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0021662 bile duct neoplasm 'bile duct neoplasm' SubClassOf 'bile duct disorder' 'bile duct neoplasm' SubClassOf 'bile duct disorder' http://purl.obolibrary.org/obo/MONDO_0021663 sarcomatoid squamous cell carcinoma 'sarcomatoid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'sarcomatoid squamous cell carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'sarcomatoid squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and 'Sarcomatoid Carcinoma' 'sarcomatoid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'sarcomatoid squamous cell carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'sarcomatoid squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and 'Sarcomatoid Carcinoma' http://purl.obolibrary.org/obo/MONDO_0021666 ear infection 'ear infection' SubClassOf 'inflammatory disease' 'ear infection' SubClassOf 'disorder of ear' 'ear infection' SubClassOf 'inflammatory disease' 'ear infection' SubClassOf 'disorder of ear' http://purl.obolibrary.org/obo/MONDO_0021650 uterine corpus neuroendocrine neoplasm 'uterine corpus neuroendocrine neoplasm' SubClassOf 'corpus uteri neoplasm' 'uterine corpus neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'uterine corpus neuroendocrine neoplasm' SubClassOf 'corpus uteri neoplasm' 'uterine corpus neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021651 synpolydactyly 'synpolydactyly' SubClassOf 'skeletal dysplasia' 'synpolydactyly' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0021652 diffuse type adenocarcinoma 'diffuse type adenocarcinoma' SubClassOf 'adenocarcinoma' 'diffuse type adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0006037 hydrolethalus syndrome 'hydrolethalus syndrome' SubClassOf 'autosomal recessive disease' 'hydrolethalus syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0021656 nongerminomatous germ cell tumor 'nongerminomatous germ cell tumor' SubClassOf 'germ cell tumor' 'nongerminomatous germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0021657 ovarian sex cord-stromal tumor 'ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal tumor' 'ovarian sex cord-stromal tumor' SubClassOf 'ovarian neoplasm' 'ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal tumor' 'ovarian sex cord-stromal tumor' SubClassOf 'ovarian neoplasm' http://purl.obolibrary.org/obo/MONDO_0021658 vascular ectasia 'vascular ectasia' SubClassOf 'vascular disease' 'vascular ectasia' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0021659 combined carcinoid and adenocarcinoma 'combined carcinoid and adenocarcinoma' SubClassOf 'carcinoma' 'combined carcinoid and adenocarcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease 'sexually transmitted disease' SubClassOf 'infectious disease' 'sexually transmitted disease' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease 'viral sexually transmitted disease' SubClassOf 'sexually transmitted disease' 'viral sexually transmitted disease' SubClassOf 'sexually transmitted disease' http://purl.obolibrary.org/obo/MONDO_0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis 'spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis' SubClassOf 'NMNAT1-related retinopathy' 'spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis' SubClassOf 'NMNAT1-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0031006 neurodegeneration with ataxia and late-onset optic atrophy 'neurodegeneration with ataxia and late-onset optic atrophy' SubClassOf 'genetic disorder' 'neurodegeneration with ataxia and late-onset optic atrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031003 hypercholanemia, familial, 2 'hypercholanemia, familial, 2' SubClassOf 'hypercholanemia, familial' 'hypercholanemia, familial, 2' SubClassOf 'hypercholanemia, familial' http://purl.obolibrary.org/obo/MONDO_0031001 vitreoretinopathy with phalangeal epiphyseal dysplasia 'vitreoretinopathy with phalangeal epiphyseal dysplasia' SubClassOf 'genetic disorder' 'vitreoretinopathy with phalangeal epiphyseal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031002 Baralle-Macken syndrome 'Baralle-Macken syndrome' SubClassOf 'genetic disorder' 'Baralle-Macken syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0006058 Wilms tumor 'Wilms tumor' SubClassOf 'Malignant Mixed Neoplasm' 'Wilms tumor' SubClassOf 'embryonal neoplasm' 'Wilms tumor' SubClassOf 'Malignant Mixed Neoplasm' 'Wilms tumor' SubClassOf 'embryonal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021678 gram-negative bacterial infections 'gram-negative bacterial infections' SubClassOf 'bacterial disease' 'gram-negative bacterial infections' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0021679 gram-positive bacterial infections 'gram-positive bacterial infections' SubClassOf 'bacterial disease' 'gram-positive bacterial infections' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0031028 developmental and epileptic encephalopathy 105 with hypopituitarism 'developmental and epileptic encephalopathy 105 with hypopituitarism' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 105 with hypopituitarism' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0031021 developmental and epileptic encephalopathy 104 'developmental and epileptic encephalopathy 104' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 104' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0021698 alcohol-related disorders 'alcohol-related disorders' SubClassOf 'substance-related disorder' 'alcohol-related disorders' SubClassOf 'substance-related disorder' http://purl.obolibrary.org/obo/MONDO_0021699 alcohol-induced disorders 'alcohol-induced disorders' SubClassOf 'alcohol-related disorders' 'alcohol-induced disorders' SubClassOf 'alcohol-related disorders' http://purl.obolibrary.org/obo/MONDO_0031014 autoimmune gastritis 'autoimmune gastritis' SubClassOf 'autoimmune disorder of gastrointestinal tract' 'autoimmune gastritis' SubClassOf 'autoimmune disorder of gastrointestinal tract' http://purl.obolibrary.org/obo/MONDO_0031012 autoimmune uveitis 'autoimmune uveitis' SubClassOf 'autoimmune disease of ear, nose and throat' 'autoimmune uveitis' SubClassOf 'autoimmune disease of ear, nose and throat' http://purl.obolibrary.org/obo/MONDO_0031013 autoimmune optic neuritis 'autoimmune optic neuritis' SubClassOf 'autoimmune disorder of peripheral nervous system' 'autoimmune optic neuritis' SubClassOf 'autoimmune disorder of peripheral nervous system' http://purl.obolibrary.org/obo/MONDO_0031010 odontochondrodysplasia 2 with hearing loss and diabetes 'odontochondrodysplasia 2 with hearing loss and diabetes' SubClassOf 'odontochondrodysplasia' 'odontochondrodysplasia 2 with hearing loss and diabetes' SubClassOf 'odontochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0031040 cholestasis, progressive familial intrahepatic, 12 'cholestasis, progressive familial intrahepatic, 12' SubClassOf 'progressive familial intrahepatic cholestasis' 'cholestasis, progressive familial intrahepatic, 12' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0031045 arthrogryposis, distal, IIa 11 'arthrogryposis, distal, IIa 11' SubClassOf 'distal arthrogryposis' 'arthrogryposis, distal, IIa 11' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0031037 famililal cerebral cavernous malformations 'famililal cerebral cavernous malformations' SubClassOf 'cerebral cavernous malformation' 'famililal cerebral cavernous malformations' SubClassOf 'cerebral cavernous malformation' http://purl.obolibrary.org/obo/MONDO_0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection 'immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection' SubClassOf 'immunodeficiency disease' 'immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection' SubClassOf 'immunodeficiency disease' http://www.ebi.ac.uk/efo/EFO_0000094 B-cell acute lymphoblastic leukemia 'B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'B-cell acute lymphoblastic leukemia' SubClassOf 'B-cell non-Hodgkins lymphoma' 'B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'B-cell acute lymphoblastic leukemia' SubClassOf 'B-cell non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_0000095 chronic lymphocytic leukemia 'chronic lymphocytic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'chronic lymphocytic leukemia' SubClassOf 'neoplasm of mature B-cells' 'chronic lymphocytic leukemia' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' 'chronic lymphocytic leukemia' SubClassOf 'chronic leukemia' 'chronic lymphocytic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'chronic lymphocytic leukemia' SubClassOf 'neoplasm of mature B-cells' 'chronic lymphocytic leukemia' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' 'chronic lymphocytic leukemia' SubClassOf 'chronic leukemia' http://www.ebi.ac.uk/efo/EFO_0000096 neoplasm of mature B-cells 'neoplasm of mature B-cells' SubClassOf 'B-cell neoplasm' 'neoplasm of mature B-cells' SubClassOf 'B-cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0031061 nephrotic syndrome, IIa 26 'nephrotic syndrome, IIa 26' SubClassOf 'familial nephrotic syndrome' 'nephrotic syndrome, IIa 26' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II 'Charcot-Marie-Tooth disease, axonal, IIa 2II' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease, axonal, IIa 2II' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0031057 dyskeratosis congenita, digenic 'dyskeratosis congenita, digenic' SubClassOf 'dyskeratosis congenita' 'dyskeratosis congenita, digenic' SubClassOf 'dyskeratosis congenita' http://purl.obolibrary.org/obo/MONDO_0031054 ciliary dyskinesia, primary, 48, without situs inversus 'ciliary dyskinesia, primary, 48, without situs inversus' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 48, without situs inversus' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0031052 developmental and epileptic encephalopathy 106 'developmental and epileptic encephalopathy 106' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 106' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0031084 amelogenesis imperfecta, IIa 1K 'amelogenesis imperfecta, IIa 1K' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta, IIa 1K' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0002342 chondromalacia 'chondromalacia' SubClassOf 'articular cartilage disorder' 'chondromalacia' SubClassOf 'articular cartilage disorder' http://purl.obolibrary.org/obo/MONDO_0002343 splenic hemangioma 'splenic hemangioma' SubClassOf 'intra-abdominal hemangioma' 'splenic hemangioma' SubClassOf 'benign neoplasm of spleen' 'splenic hemangioma' SubClassOf 'intra-abdominal hemangioma' 'splenic hemangioma' SubClassOf 'benign neoplasm of spleen' http://purl.obolibrary.org/obo/MONDO_0002345 cervicitis 'cervicitis' SubClassOf 'cervix disorder' 'cervicitis' SubClassOf 'cervix disorder' http://purl.obolibrary.org/obo/MONDO_0002341 granulomatous angiitis 'granulomatous angiitis' SubClassOf 'Arteritis' 'granulomatous angiitis' SubClassOf 'Arteritis' http://purl.obolibrary.org/obo/MONDO_0016987 neuroacanthocytosis 'neuroacanthocytosis' SubClassOf 'Huntington disease-like syndrome' 'neuroacanthocytosis' SubClassOf 'disease has major feature' some 'dementia' 'neuroacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' 'neuroacanthocytosis' SubClassOf 'Huntington disease-like syndrome' http://purl.obolibrary.org/obo/MONDO_0016988 hyperinsulinism due to HNF4A deficiency 'hyperinsulinism due to HNF4A deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'hyperinsulinism due to HNF4A deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0016983 Bartter syndrome with hypocalcemia 'Bartter syndrome with hypocalcemia' SubClassOf 'Bartter syndrome' 'Bartter syndrome with hypocalcemia' SubClassOf 'Bartter syndrome' http://purl.obolibrary.org/obo/MONDO_0016986 congenital smooth muscle hamartoma 'congenital smooth muscle hamartoma' SubClassOf 'hamartoma' 'congenital smooth muscle hamartoma' SubClassOf 'hamartoma' http://purl.obolibrary.org/obo/MONDO_0016980 ATR-X-related syndrome 'ATR-X-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'ATR-X-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 'infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome' SubClassOf 'disorder of thiamine metabolism and transport' 'infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome' SubClassOf 'disorder of thiamine metabolism and transport' http://www.ebi.ac.uk/efo/EFO_0005251 hypotension 'hypotension' SubClassOf 'arterial disorder' 'hypotension' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0002358 laryngeal carcinoma 'laryngeal carcinoma' SubClassOf 'carcinoma' 'laryngeal carcinoma' SubClassOf 'Malignant Laryngeal Neoplasm' 'laryngeal carcinoma' SubClassOf 'carcinoma' 'laryngeal carcinoma' SubClassOf 'Malignant Laryngeal Neoplasm' http://www.ebi.ac.uk/efo/EFO_0005252 orthostatic hypotension 'orthostatic hypotension' SubClassOf 'hypotension' 'orthostatic hypotension' SubClassOf 'hypotension' http://purl.obolibrary.org/obo/MONDO_0002359 periosteal chondroma 'periosteal chondroma' SubClassOf 'chondroma' 'periosteal chondroma' SubClassOf 'bone benign neoplasm' 'periosteal chondroma' SubClassOf 'chondroma' 'periosteal chondroma' SubClassOf 'bone benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0005250 occupation-related stress disorder 'occupation-related stress disorder' SubClassOf 'occupational disorder' 'occupation-related stress disorder' SubClassOf 'occupational disorder' http://purl.obolibrary.org/obo/MONDO_0002353 glottis neoplasm 'glottis neoplasm' SubClassOf 'laryngeal neoplasm' 'glottis neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002354 benign laryngeal neoplasm 'benign laryngeal neoplasm' SubClassOf 'laryngeal neoplasm' 'benign laryngeal neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'larynx') 'benign laryngeal neoplasm' SubClassOf 'respiratory system benign neoplasm' 'benign laryngeal neoplasm' SubClassOf 'laryngeal neoplasm' 'benign laryngeal neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'larynx') 'benign laryngeal neoplasm' SubClassOf 'respiratory system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002355 glottis carcinoma 'glottis carcinoma' SubClassOf 'glottis cancer' 'glottis carcinoma' SubClassOf 'laryngeal carcinoma' 'glottis carcinoma' SubClassOf 'glottis cancer' 'glottis carcinoma' SubClassOf 'laryngeal carcinoma' http://www.ebi.ac.uk/efo/EFO_0005253 postprandial hypotension 'postprandial hypotension' SubClassOf 'hypotension' 'postprandial hypotension' SubClassOf 'hypotension' http://www.ebi.ac.uk/efo/EFO_0005254 neurally mediated hypotension 'neurally mediated hypotension' SubClassOf 'hypotension' 'neurally mediated hypotension' SubClassOf 'hypotension' http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0002351 glottis cancer 'glottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 'glottis cancer' SubClassOf 'glottis neoplasm' 'glottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 'glottis cancer' SubClassOf 'glottis neoplasm' http://purl.obolibrary.org/obo/MONDO_0016994 microcephalic osteodysplastic primordial dwarfism types I and III 'microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'syndromic disease' 'microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'syndromic disease' 'microcephalic osteodysplastic primordial dwarfism types I and III' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0016993 generalized peeling skin syndrome type C 'generalized peeling skin syndrome type C' SubClassOf 'generalized peeling skin syndrome' 'generalized peeling skin syndrome type C' SubClassOf 'generalized peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0002368 papillary serous cystadenocarcinoma 'papillary serous cystadenocarcinoma' EquivalentTo 'serous cystadenocarcinoma' and 'papillary cystadenocarcinoma' 'papillary serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' 'papillary serous cystadenocarcinoma' SubClassOf 'papillary cystadenocarcinoma' 'papillary serous cystadenocarcinoma' EquivalentTo 'serous cystadenocarcinoma' and 'papillary cystadenocarcinoma' 'papillary serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' 'papillary serous cystadenocarcinoma' SubClassOf 'papillary cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002369 cystadenoma 'cystadenoma' SubClassOf 'cystic neoplasm' 'cystadenoma' SubClassOf 'adenoma' 'cystadenoma' SubClassOf 'glandular cell neoplasm' 'cystadenoma' SubClassOf 'cystic neoplasm' 'cystadenoma' SubClassOf 'adenoma' 'cystadenoma' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0002365 kidney hemangiopericytoma 'kidney hemangiopericytoma' SubClassOf 'hemangiopericytoma' 'kidney hemangiopericytoma' SubClassOf 'hemangiopericytoma' http://purl.obolibrary.org/obo/MONDO_0002366 autonomic nervous system neoplasm 'autonomic nervous system neoplasm' SubClassOf 'tumour of cranial and spinal nerves' 'autonomic nervous system neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://purl.obolibrary.org/obo/MONDO_0002367 kidney cancer 'kidney cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'kidney cancer' SubClassOf 'kidney neoplasm' 'kidney cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'kidney cancer' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_0005287 reticulum cell sarcoma 'reticulum cell sarcoma' SubClassOf 'lymphatic system cancer' 'reticulum cell sarcoma' SubClassOf 'sarcoma' 'reticulum cell sarcoma' SubClassOf 'dendritic cell tumor' 'reticulum cell sarcoma' SubClassOf 'lymphatic system cancer' 'reticulum cell sarcoma' SubClassOf 'sarcoma' 'reticulum cell sarcoma' SubClassOf 'dendritic cell tumor' http://purl.obolibrary.org/obo/MONDO_0002360 chondroma 'chondroma' SubClassOf 'benign chondrogenic neoplasm' 'chondroma' SubClassOf 'benign chondrogenic neoplasm' http://purl.obolibrary.org/obo/MONDO_0002363 papilloma 'papilloma' SubClassOf 'papillary epithelial neoplasm' 'papilloma' SubClassOf 'papillary epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002379 cystic teratoma 'cystic teratoma' SubClassOf 'teratoma' 'cystic teratoma' SubClassOf 'teratoma' http://purl.obolibrary.org/obo/MONDO_0002375 sebaceous adenoma 'sebaceous adenoma' SubClassOf 'sebaceous gland neoplasm' 'sebaceous adenoma' SubClassOf 'adenoma' 'sebaceous adenoma' SubClassOf 'epithelial skin neoplasm' 'sebaceous adenoma' SubClassOf 'sebaceous gland neoplasm' 'sebaceous adenoma' SubClassOf 'adenoma' 'sebaceous adenoma' SubClassOf 'epithelial skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0002376 spleen angiosarcoma 'spleen angiosarcoma' SubClassOf 'spleen cancer' 'spleen angiosarcoma' SubClassOf 'angiosarcoma' 'spleen angiosarcoma' SubClassOf 'spleen cancer' 'spleen angiosarcoma' SubClassOf 'angiosarcoma' http://purl.obolibrary.org/obo/MONDO_0002372 ovarian monodermal and highly specialized teratoma 'ovarian monodermal and highly specialized teratoma' SubClassOf 'ovarian monodermal teratoma' 'ovarian monodermal and highly specialized teratoma' SubClassOf 'ovarian monodermal teratoma' http://purl.obolibrary.org/obo/MONDO_0002373 benign mesothelioma 'benign mesothelioma' SubClassOf 'benign neoplasm' 'benign mesothelioma' SubClassOf 'benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0005279 temporomandibular joint disorder 'temporomandibular joint disorder' SubClassOf 'joint disease' 'temporomandibular joint disorder' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0002387 liver angiosarcoma 'liver angiosarcoma' SubClassOf 'angiosarcoma' 'liver angiosarcoma' SubClassOf 'liver sarcoma' 'liver angiosarcoma' SubClassOf 'hepatic vascular disorder' 'liver angiosarcoma' SubClassOf 'angiosarcoma' 'liver angiosarcoma' SubClassOf 'liver sarcoma' 'liver angiosarcoma' SubClassOf 'hepatic vascular disorder' http://purl.obolibrary.org/obo/MONDO_0002382 benign mesenchymoma 'benign mesenchymoma' SubClassOf 'mesenchymoma' 'benign mesenchymoma' SubClassOf 'mesenchymoma' http://purl.obolibrary.org/obo/MONDO_0002397 liver sarcoma 'liver sarcoma' SubClassOf 'liver cancer' 'liver sarcoma' SubClassOf 'soft tissue sarcoma' 'liver sarcoma' SubClassOf 'liver cancer' 'liver sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002398 mucinous adenofibroma 'mucinous adenofibroma' SubClassOf 'Adenofibroma' 'mucinous adenofibroma' SubClassOf 'Adenofibroma' http://www.ebi.ac.uk/efo/EFO_0005297 Granulomatosis with Polyangiitis 'Granulomatosis with Polyangiitis' SubClassOf 'glomerulonephritis' 'Granulomatosis with Polyangiitis' SubClassOf 'immune system disease' 'Granulomatosis with Polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' 'Granulomatosis with Polyangiitis' SubClassOf 'glomerulonephritis' 'Granulomatosis with Polyangiitis' SubClassOf 'immune system disease' 'Granulomatosis with Polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' http://purl.obolibrary.org/obo/MONDO_0002395 renal adenoma 'renal adenoma' SubClassOf 'adenoma' 'renal adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0002401 malignant tenosynovial giant cell tumor 'malignant tenosynovial giant cell tumor' SubClassOf 'synovium cancer' 'malignant tenosynovial giant cell tumor' SubClassOf 'malignant giant cell tumor' 'malignant tenosynovial giant cell tumor' SubClassOf 'Tenosynovial Giant Cell Tumor' 'malignant tenosynovial giant cell tumor' SubClassOf 'synovium cancer' 'malignant tenosynovial giant cell tumor' SubClassOf 'malignant giant cell tumor' 'malignant tenosynovial giant cell tumor' SubClassOf 'Tenosynovial Giant Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0002402 malignant giant cell tumor 'malignant giant cell tumor' SubClassOf 'giant cell tumor' 'malignant giant cell tumor' SubClassOf 'giant cell tumor' http://purl.obolibrary.org/obo/MONDO_0002403 synovium cancer 'synovium cancer' SubClassOf 'synovium neoplasm' 'synovium cancer' SubClassOf 'synovium neoplasm' http://purl.obolibrary.org/obo/MONDO_0002404 liver hemangioma 'liver hemangioma' SubClassOf 'intra-abdominal hemangioma' 'liver hemangioma' SubClassOf 'hepatobiliary benign neoplasm' 'liver hemangioma' SubClassOf 'intra-abdominal hemangioma' 'liver hemangioma' SubClassOf 'hepatobiliary benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0005204 bulimia nervosa 'bulimia nervosa' SubClassOf 'eating disorder' 'bulimia nervosa' SubClassOf 'eating disorder' http://www.ebi.ac.uk/efo/EFO_0005203 eating disorder 'eating disorder' SubClassOf 'psychiatric disorder' 'eating disorder' SubClassOf 'nutritional disorder' 'eating disorder' SubClassOf 'psychiatric disorder' 'eating disorder' SubClassOf 'nutritional disorder' http://www.ebi.ac.uk/efo/EFO_0005207 congenital heart disease 'congenital heart disease' SubClassOf 'congenital anomaly of cardiovascular system' 'congenital heart disease' SubClassOf 'heart disease' 'congenital heart disease' SubClassOf 'congenital anomaly of cardiovascular system' 'congenital heart disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0002405 hepatic vascular disorder 'hepatic vascular disorder' SubClassOf 'vascular disease' 'hepatic vascular disorder' SubClassOf 'liver disease' 'hepatic vascular disorder' SubClassOf 'vascular disease' 'hepatic vascular disorder' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0002406 dermatitis 'dermatitis' SubClassOf 'skin disease' 'dermatitis' SubClassOf 'inflammatory disease' 'dermatitis' SubClassOf 'skin disease' 'dermatitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002407 capillary hemangioma 'capillary hemangioma' SubClassOf 'hemangioma' 'capillary hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0002412 disorder of glycogen metabolism 'disorder of glycogen metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorder of glycogen metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I 'glycogen storage disease I' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease I' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0002414 gastric hemangioma 'gastric hemangioma' SubClassOf 'intra-abdominal hemangioma' 'gastric hemangioma' SubClassOf 'benign neoplasm of stomach' 'gastric hemangioma' SubClassOf 'intra-abdominal hemangioma' 'gastric hemangioma' SubClassOf 'benign neoplasm of stomach' http://purl.obolibrary.org/obo/MONDO_0002415 bone carcinoma 'bone carcinoma' SubClassOf 'Malignant Bone Neoplasm' 'bone carcinoma' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002416 ethmoid sinus squamous cell carcinoma 'ethmoid sinus squamous cell carcinoma' SubClassOf 'ethmoid sinus cancer' 'ethmoid sinus squamous cell carcinoma' SubClassOf 'ethmoid sinus cancer' http://purl.obolibrary.org/obo/MONDO_0002418 ethmoid sinus adenocarcinoma 'ethmoid sinus adenocarcinoma' SubClassOf 'adenocarcinoma' 'ethmoid sinus adenocarcinoma' SubClassOf 'ethmoid sinus cancer' 'ethmoid sinus adenocarcinoma' SubClassOf 'adenocarcinoma' 'ethmoid sinus adenocarcinoma' SubClassOf 'ethmoid sinus cancer' http://purl.obolibrary.org/obo/MONDO_0002419 transient tic disorder 'transient tic disorder' SubClassOf 'tic disorder' 'transient tic disorder' SubClassOf 'movement disorder' 'transient tic disorder' SubClassOf 'tic disorder' 'transient tic disorder' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0002423 rectosigmoid junction neoplasm 'rectosigmoid junction neoplasm' SubClassOf 'sigmoid neoplasm' 'rectosigmoid junction neoplasm' SubClassOf 'sigmoid neoplasm' http://purl.obolibrary.org/obo/MONDO_0002424 rectosigmoid carcinoma 'rectosigmoid carcinoma' SubClassOf 'rectosigmoid junction cancer' 'rectosigmoid carcinoma' SubClassOf 'rectosigmoid junction cancer' http://purl.obolibrary.org/obo/MONDO_0002425 rectosigmoid junction cancer 'rectosigmoid junction cancer' SubClassOf 'sigmoid colon cancer' 'rectosigmoid junction cancer' SubClassOf 'rectum cancer' 'rectosigmoid junction cancer' SubClassOf 'rectosigmoid junction neoplasm' 'rectosigmoid junction cancer' SubClassOf 'sigmoid colon cancer' 'rectosigmoid junction cancer' SubClassOf 'rectum cancer' 'rectosigmoid junction cancer' SubClassOf 'rectosigmoid junction neoplasm' http://purl.obolibrary.org/obo/MONDO_0002426 lung sarcoma 'lung sarcoma' SubClassOf 'lung cancer' 'lung sarcoma' SubClassOf 'soft tissue sarcoma' 'lung sarcoma' SubClassOf 'lung cancer' 'lung sarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0005222 avian influenza 'avian influenza' SubClassOf 'influenza' 'avian influenza' SubClassOf 'influenza' http://purl.obolibrary.org/obo/MONDO_0002420 tic disorder 'tic disorder' SubClassOf 'specific developmental disorder' 'tic disorder' SubClassOf 'specific developmental disorder' http://www.ebi.ac.uk/efo/EFO_0005223 acute stress reaction 'acute stress reaction' SubClassOf 'anxiety disorder' 'acute stress reaction' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_0005220 pulmonary neuroendocrine tumor 'pulmonary neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('disease has location' some 'lung') 'pulmonary neuroendocrine tumor' SubClassOf 'lung neoplasm' 'pulmonary neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'pulmonary neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('disease has location' some 'lung') 'pulmonary neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'pulmonary neuroendocrine tumor' SubClassOf 'lung neoplasm' http://www.ebi.ac.uk/efo/EFO_0005226 swine influenza 'swine influenza' SubClassOf 'influenza' 'swine influenza' SubClassOf 'influenza' http://www.ebi.ac.uk/efo/EFO_0005224 Q fever 'Q fever' SubClassOf 'primary bacterial infectious disease' 'Q fever' SubClassOf 'vector-borne disease' 'Q fever' SubClassOf 'primary bacterial infectious disease' 'Q fever' SubClassOf 'vector-borne disease' http://www.ebi.ac.uk/efo/EFO_0005225 human african trypanosomiasis 'human african trypanosomiasis' SubClassOf 'vector-borne disease' 'human african trypanosomiasis' SubClassOf 'trypanosomiasis' 'human african trypanosomiasis' SubClassOf 'vector-borne disease' 'human african trypanosomiasis' SubClassOf 'trypanosomiasis' http://purl.obolibrary.org/obo/MONDO_0002427 cerebellar disorder 'cerebellar disorder' SubClassOf 'brain disease' 'cerebellar disorder' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0002428 protozoa infectious disease 'protozoa infectious disease' SubClassOf 'parasitic infection' 'protozoa infectious disease' SubClassOf 'parasitic infection' http://purl.obolibrary.org/obo/MONDO_0002429 idiopathic interstitial pneumonia 'idiopathic interstitial pneumonia' SubClassOf 'pneumonia' 'idiopathic interstitial pneumonia' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/MONDO_0002434 oculomotor nerve cancer 'oculomotor nerve cancer' SubClassOf 'cranial nerve malignant neoplasm' 'oculomotor nerve cancer' SubClassOf 'oculomotor nerve neoplasm' 'oculomotor nerve cancer' SubClassOf 'cranial nerve malignant neoplasm' 'oculomotor nerve cancer' SubClassOf 'oculomotor nerve neoplasm' http://purl.obolibrary.org/obo/MONDO_0002435 oculomotor nerve neoplasm 'oculomotor nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'oculomotor nerve neoplasm' SubClassOf 'third cranial nerve disorder' 'oculomotor nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'oculomotor nerve neoplasm' SubClassOf 'third cranial nerve disorder' http://purl.obolibrary.org/obo/MONDO_0002436 nasal disorder 'nasal disorder' SubClassOf 'otorhinolaryngologic disease' 'nasal disorder' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0002432 malignant neoplasm of acoustic nerve 'malignant neoplasm of acoustic nerve' SubClassOf 'vestibulocochlear nerve neoplasm' 'malignant neoplasm of acoustic nerve' SubClassOf 'cranial nerve malignant neoplasm' 'malignant neoplasm of acoustic nerve' SubClassOf 'auditory system cancer' 'malignant neoplasm of acoustic nerve' SubClassOf 'vestibulocochlear nerve neoplasm' 'malignant neoplasm of acoustic nerve' SubClassOf 'cranial nerve malignant neoplasm' 'malignant neoplasm of acoustic nerve' SubClassOf 'auditory system cancer' http://purl.obolibrary.org/obo/MONDO_0002438 acquired polycythemia 'acquired polycythemia' SubClassOf 'polycythemia' 'acquired polycythemia' SubClassOf 'polycythemia' http://www.ebi.ac.uk/efo/EFO_0005240 rhegmatogenous retinal detachment 'rhegmatogenous retinal detachment' SubClassOf 'retinal detachment' 'rhegmatogenous retinal detachment' SubClassOf 'retinal detachment' http://purl.obolibrary.org/obo/MONDO_0002448 laryngeal sarcoma 'laryngeal sarcoma' SubClassOf 'Malignant Laryngeal Neoplasm' 'laryngeal sarcoma' SubClassOf 'soft tissue sarcoma' 'laryngeal sarcoma' SubClassOf 'Malignant Laryngeal Neoplasm' 'laryngeal sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002443 bruxism 'bruxism' SubClassOf 'sleep-wake disorder' 'bruxism' SubClassOf 'sleep-wake disorder' http://www.ebi.ac.uk/efo/EFO_0005242 methamphetamine-induced psychosis 'methamphetamine-induced psychosis' SubClassOf 'psychosis' 'methamphetamine-induced psychosis' SubClassOf 'psychosis' http://www.ebi.ac.uk/efo/EFO_0005246 hypersomnia 'hypersomnia' SubClassOf 'sleep-wake disorder' 'hypersomnia' SubClassOf 'sleep-wake disorder' http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Treacher-Collins syndrome' SubClassOf 'autosomal dominant disease' 'Treacher-Collins syndrome' SubClassOf 'mandibulofacial dysostosis' 'Treacher-Collins syndrome' SubClassOf 'syndromic disease' 'Treacher-Collins syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Treacher-Collins syndrome' SubClassOf 'autosomal dominant disease' 'Treacher-Collins syndrome' SubClassOf 'mandibulofacial dysostosis' 'Treacher-Collins syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0002459 type IV hypersensitivity disease 'type IV hypersensitivity disease' SubClassOf 'hypersensitivity reaction disease' 'type IV hypersensitivity disease' SubClassOf 'hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0002452 prostate leiomyoma 'prostate leiomyoma' SubClassOf 'benign neoplasm of prostate' 'prostate leiomyoma' SubClassOf 'leiomyoma' 'prostate leiomyoma' SubClassOf 'benign neoplasm of prostate' 'prostate leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/MONDO_0002453 retrocochlear disease 'retrocochlear disease' SubClassOf 'auditory system disease' 'retrocochlear disease' SubClassOf 'auditory system disease' http://www.ebi.ac.uk/efo/EFO_0005232 endometrium adenocarcinoma 'endometrium adenocarcinoma' SubClassOf 'adenocarcinoma' 'endometrium adenocarcinoma' SubClassOf 'endometrial carcinoma' 'endometrium adenocarcinoma' SubClassOf 'adenocarcinoma' 'endometrium adenocarcinoma' SubClassOf 'endometrial carcinoma' http://purl.obolibrary.org/obo/MONDO_0026404 X inactivation, familial skewed, 1 'X inactivation, familial skewed, 1' SubClassOf 'X inactivation, familial skewed' 'X inactivation, familial skewed, 1' SubClassOf 'X inactivation, familial skewed' http://www.ebi.ac.uk/efo/EFO_0005235 primitive neuroectodermal tumor 'primitive neuroectodermal tumor' SubClassOf 'neuroepithelial neoplasm' 'primitive neuroectodermal tumor' SubClassOf 'embryonal neoplasm' 'primitive neuroectodermal tumor' SubClassOf 'neuroepithelial neoplasm' 'primitive neuroectodermal tumor' SubClassOf 'embryonal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002450 prostatic adenoma 'prostatic adenoma' SubClassOf 'adenoma' 'prostatic adenoma' SubClassOf 'benign neoplasm of prostate' 'prostatic adenoma' SubClassOf 'adenoma' 'prostatic adenoma' SubClassOf 'benign neoplasm of prostate' http://purl.obolibrary.org/obo/MONDO_0002451 benign prostate phyllodes tumor 'benign prostate phyllodes tumor' SubClassOf 'benign phyllodes tumor' 'benign prostate phyllodes tumor' SubClassOf 'prostate phyllodes tumor' 'benign prostate phyllodes tumor' SubClassOf 'benign neoplasm of prostate' 'benign prostate phyllodes tumor' SubClassOf 'benign phyllodes tumor' 'benign prostate phyllodes tumor' SubClassOf 'prostate phyllodes tumor' 'benign prostate phyllodes tumor' SubClassOf 'benign neoplasm of prostate' http://purl.obolibrary.org/obo/MONDO_0002225 ovarian sarcoma 'ovarian sarcoma' SubClassOf 'ovarian cancer' 'ovarian sarcoma' SubClassOf 'soft tissue sarcoma' 'ovarian sarcoma' SubClassOf 'ovarian cancer' 'ovarian sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002226 tuberculous oophoritis 'tuberculous oophoritis' SubClassOf 'urogenital tuberculosis' 'tuberculous oophoritis' SubClassOf 'urogenital tuberculosis' http://purl.obolibrary.org/obo/MONDO_0002227 ovarian lymphoma 'ovarian lymphoma' SubClassOf 'ovarian cancer' 'ovarian lymphoma' SubClassOf 'lymphoma' 'ovarian lymphoma' SubClassOf 'ovarian cancer' 'ovarian lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0002221 urethral urothelial papilloma 'urethral urothelial papilloma' SubClassOf 'benign urethral neoplasm' 'urethral urothelial papilloma' SubClassOf 'urothelial papilloma' 'urethral urothelial papilloma' SubClassOf 'benign urethral neoplasm' 'urethral urothelial papilloma' SubClassOf 'urothelial papilloma' http://purl.obolibrary.org/obo/MONDO_0002222 urethra leiomyoma 'urethra leiomyoma' SubClassOf 'benign urethral neoplasm' 'urethra leiomyoma' SubClassOf 'leiomyoma' 'urethra leiomyoma' SubClassOf 'benign urethral neoplasm' 'urethra leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/MONDO_0002223 ovarian malignant mesothelioma 'ovarian malignant mesothelioma' EquivalentTo 'Malignant Mesothelioma' and ('disease has location' some 'ovary') 'ovarian malignant mesothelioma' SubClassOf 'ovarian cancer' 'ovarian malignant mesothelioma' SubClassOf 'Malignant Mesothelioma' 'ovarian malignant mesothelioma' EquivalentTo 'Malignant Mesothelioma' and ('disease has location' some 'ovary') 'ovarian malignant mesothelioma' SubClassOf 'ovarian cancer' 'ovarian malignant mesothelioma' SubClassOf 'Malignant Mesothelioma' http://purl.obolibrary.org/obo/MONDO_0002220 tooth hard tissue disease 'tooth hard tissue disease' SubClassOf 'tooth disease' 'tooth hard tissue disease' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0016862 Alagille syndrome due to a JAG1 point mutation 'Alagille syndrome due to a JAG1 point mutation' SubClassOf 'Alagille syndrome' 'Alagille syndrome due to a JAG1 point mutation' SubClassOf 'Alagille syndrome' http://purl.obolibrary.org/obo/MONDO_0016863 Okihiro syndrome due to 20q13 microdeletion 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 20' 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'Duane-radial ray syndrome' 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 20' 'Okihiro syndrome due to 20q13 microdeletion' SubClassOf 'Duane-radial ray syndrome' http://purl.obolibrary.org/obo/MONDO_0016864 Okihiro syndrome due to a point mutation 'Okihiro syndrome due to a point mutation' SubClassOf 'Duane-radial ray syndrome' 'Okihiro syndrome due to a point mutation' SubClassOf 'Duane-radial ray syndrome' http://purl.obolibrary.org/obo/MONDO_0016865 Kleefstra syndrome due to a point mutation 'Kleefstra syndrome due to a point mutation' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome due to a point mutation' SubClassOf 'Kleefstra syndrome' http://purl.obolibrary.org/obo/MONDO_0016860 familial adenomatous polyposis due to 5q22.2 microdeletion 'familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 5' 'familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'classic familial adenomatous polyposis' 'familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 5' 'familial adenomatous polyposis due to 5q22.2 microdeletion' SubClassOf 'classic familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0016861 Alagille syndrome due to 20p12 microdeletion 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'partial monosomy of the short arm of chromosome 20' 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'Alagille syndrome' 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'partial monosomy of the short arm of chromosome 20' 'Alagille syndrome due to 20p12 microdeletion' SubClassOf 'Alagille syndrome' http://purl.obolibrary.org/obo/MONDO_0002229 ovarian epithelial tumor 'ovarian epithelial tumor' SubClassOf 'ovarian neoplasm' 'ovarian epithelial tumor' SubClassOf 'epithelial neoplasm' 'ovarian epithelial tumor' EquivalentTo 'epithelial neoplasm' and ('disease has location' some 'ovary') 'ovarian epithelial tumor' SubClassOf 'ovarian neoplasm' 'ovarian epithelial tumor' SubClassOf 'epithelial neoplasm' 'ovarian epithelial tumor' EquivalentTo 'epithelial neoplasm' and ('disease has location' some 'ovary') http://purl.obolibrary.org/obo/MONDO_0002236 ocular cancer 'ocular cancer' SubClassOf 'sensory system cancer' 'ocular cancer' SubClassOf 'eye neoplasm' 'ocular cancer' SubClassOf 'eye neoplasm' 'ocular cancer' SubClassOf 'sensory system cancer' http://purl.obolibrary.org/obo/MONDO_0002238 ascending colon cancer 'ascending colon cancer' SubClassOf 'malignant colon neoplasm' 'ascending colon cancer' SubClassOf 'malignant colon neoplasm' http://purl.obolibrary.org/obo/MONDO_0002232 nasal cavity disorder 'nasal cavity disorder' SubClassOf 'upper respiratory tract disorder' 'nasal cavity disorder' SubClassOf 'nasal disorder' 'nasal cavity disorder' SubClassOf 'upper respiratory tract disorder' 'nasal cavity disorder' SubClassOf 'nasal disorder' http://purl.obolibrary.org/obo/MONDO_0002233 enamel caries 'enamel caries' SubClassOf 'dental caries' 'enamel caries' SubClassOf 'dental caries' http://purl.obolibrary.org/obo/MONDO_0002234 vaginitis 'vaginitis' SubClassOf 'vaginal disorder' 'vaginitis' SubClassOf 'vaginal disorder' http://purl.obolibrary.org/obo/MONDO_0002230 ovarian Wilms tumor 'ovarian Wilms tumor' SubClassOf 'ovarian cancer' 'ovarian Wilms tumor' EquivalentTo 'Wilms tumor' and ('disease has location' some 'ovary') 'ovarian Wilms tumor' SubClassOf 'Wilms tumor' 'ovarian Wilms tumor' SubClassOf 'ovarian cancer' 'ovarian Wilms tumor' EquivalentTo 'Wilms tumor' and ('disease has location' some 'ovary') 'ovarian Wilms tumor' SubClassOf 'Wilms tumor' http://purl.obolibrary.org/obo/MONDO_0016877 partial deletion of the long arm of chromosome 12 'partial deletion of the long arm of chromosome 12' SubClassOf 'partial deletion of chromosome 12' 'partial deletion of the long arm of chromosome 12' SubClassOf 'partial deletion of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0002247 factor X deficiency 'factor X deficiency' SubClassOf 'coagulation protein disease' 'factor X deficiency' SubClassOf 'hemorrhagic disease' 'factor X deficiency' SubClassOf 'coagulation protein disease' 'factor X deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0002249 thrombocytosis disease 'thrombocytosis disease' SubClassOf 'blood platelet disease' 'thrombocytosis disease' SubClassOf 'blood platelet disease' http://purl.obolibrary.org/obo/MONDO_0002243 hemorrhagic disease 'hemorrhagic disease' SubClassOf 'hematologic disease' 'hemorrhagic disease' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0002244 factor VII deficiency 'factor VII deficiency' SubClassOf 'coagulation protein disease' 'factor VII deficiency' SubClassOf 'hemorrhagic disease' 'factor VII deficiency' SubClassOf 'coagulation protein disease' 'factor VII deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0002245 blood platelet disease 'blood platelet disease' SubClassOf 'hematologic disease' 'blood platelet disease' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0002246 perichondritis of auricle 'perichondritis of auricle' SubClassOf 'otitis externa' 'perichondritis of auricle' SubClassOf 'otitis externa' http://purl.obolibrary.org/obo/MONDO_0002240 acute perichondritis of pinna 'acute perichondritis of pinna' SubClassOf 'perichondritis of auricle' 'acute perichondritis of pinna' SubClassOf 'perichondritis of auricle' http://purl.obolibrary.org/obo/MONDO_0002241 factor XIII deficiency 'factor XIII deficiency' SubClassOf 'coagulation protein disease' 'factor XIII deficiency' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0002242 coagulation protein disease 'coagulation protein disease' SubClassOf 'blood coagulation disease' 'coagulation protein disease' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0016888 partial deletion of the short arm of chromosome 6 'partial deletion of the short arm of chromosome 6' SubClassOf 'partial deletion of chromosome 6' 'partial deletion of the short arm of chromosome 6' SubClassOf 'partial deletion of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0016889 partial deletion of the short arm of chromosome 7 'partial deletion of the short arm of chromosome 7' SubClassOf 'partial deletion of chromosome 7' 'partial deletion of the short arm of chromosome 7' SubClassOf 'partial deletion of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0016884 partial deletion of the short arm of chromosome 2 'partial deletion of the short arm of chromosome 2' SubClassOf 'partial deletion of chromosome 2' 'partial deletion of the short arm of chromosome 2' SubClassOf 'partial deletion of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016885 partial deletion of the short arm of chromosome 3 'partial deletion of the short arm of chromosome 3' SubClassOf 'partial deletion of chromosome 3' 'partial deletion of the short arm of chromosome 3' SubClassOf 'partial deletion of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0016887 partial deletion of the short arm of chromosome 5 'partial deletion of the short arm of chromosome 5' SubClassOf 'partial deletion of chromosome 5' 'partial deletion of the short arm of chromosome 5' SubClassOf 'partial deletion of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0016883 partial deletion of the short arm of chromosome 1 'partial deletion of the short arm of chromosome 1' SubClassOf 'partial deletion of chromosome 1' 'partial deletion of the short arm of chromosome 1' SubClassOf 'partial deletion of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0002258 pharyngitis 'pharyngitis' SubClassOf 'inflammatory disease' 'pharyngitis' SubClassOf 'upper respiratory tract disorder' 'pharyngitis' SubClassOf 'inflammatory disease' 'pharyngitis' SubClassOf 'upper respiratory tract disorder' http://purl.obolibrary.org/obo/MONDO_0002259 gonadal disorder 'gonadal disorder' SubClassOf 'endocrine system disease' 'gonadal disorder' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0002256 cervix disorder 'cervix disorder' SubClassOf 'uterine disorder' 'cervix disorder' SubClassOf 'uterine disorder' http://purl.obolibrary.org/obo/MONDO_0002257 ankylosis 'ankylosis' SubClassOf 'joint disease' 'ankylosis' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0002253 spondylosis 'spondylosis' SubClassOf 'disease of bone structure' 'spondylosis' SubClassOf 'disease of bone structure' http://purl.obolibrary.org/obo/MONDO_0016897 partial deletion of the short arm of chromosome 19 'partial deletion of the short arm of chromosome 19' SubClassOf 'partial deletion of chromosome 19' 'partial deletion of the short arm of chromosome 19' SubClassOf 'partial deletion of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0016898 partial monosomy of the short arm of chromosome 20 'partial monosomy of the short arm of chromosome 20' SubClassOf 'partial deletion of chromosome 20' 'partial monosomy of the short arm of chromosome 20' SubClassOf 'partial deletion of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016892 partial deletion of the short arm of chromosome 10 'partial deletion of the short arm of chromosome 10' SubClassOf 'partial deletion of chromosome 10' 'partial deletion of the short arm of chromosome 10' SubClassOf 'partial deletion of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0016893 partial deletion of the short arm of chromosome 11 'partial deletion of the short arm of chromosome 11' SubClassOf 'partial deletion of chromosome 11' 'partial deletion of the short arm of chromosome 11' SubClassOf 'partial deletion of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0016894 partial deletion of the short arm of chromosome 16 'partial deletion of the short arm of chromosome 16' SubClassOf 'partial deletion of chromosome 16' 'partial deletion of the short arm of chromosome 16' SubClassOf 'partial deletion of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016890 partial deletion of the short arm of chromosome 8 'partial deletion of the short arm of chromosome 8' SubClassOf 'partial deletion of chromosome 8' 'partial deletion of the short arm of chromosome 8' SubClassOf 'partial deletion of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0002265 stereotypic movement disorder 'stereotypic movement disorder' SubClassOf 'specific developmental disorder' 'stereotypic movement disorder' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0002266 malt worker's lung 'malt worker's lung' SubClassOf 'hypersensitivity pneumonitis' 'malt worker's lung' SubClassOf 'hypersensitivity pneumonitis' http://purl.obolibrary.org/obo/MONDO_0002262 capillary lymphangioma 'capillary lymphangioma' SubClassOf 'capillary disorder' 'capillary lymphangioma' SubClassOf 'lymphangioma' 'capillary lymphangioma' SubClassOf 'capillary disorder' 'capillary lymphangioma' SubClassOf 'lymphangioma' http://purl.obolibrary.org/obo/MONDO_0002260 hidradenitis 'hidradenitis' SubClassOf 'inflammatory disease' 'hidradenitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0041879 staphylococcus aureus pneumonia 'staphylococcus aureus pneumonia' SubClassOf 'staphylococcal pneumonia' 'staphylococcus aureus pneumonia' SubClassOf 'Staphylococcus aureus infection' 'staphylococcus aureus pneumonia' SubClassOf 'staphylococcal pneumonia' 'staphylococcus aureus pneumonia' SubClassOf 'Staphylococcus aureus infection' http://purl.obolibrary.org/obo/MONDO_0002277 arteriosclerosis disorder 'arteriosclerosis disorder' SubClassOf 'arterial disorder' 'arteriosclerosis disorder' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0002278 benign colon neoplasm 'benign colon neoplasm' SubClassOf 'benign neoplasm of large intestine' 'benign colon neoplasm' SubClassOf 'colonic neoplasm' 'benign colon neoplasm' SubClassOf 'benign neoplasm of large intestine' 'benign colon neoplasm' SubClassOf 'colonic neoplasm' http://purl.obolibrary.org/obo/MONDO_0002279 iron metabolism disease 'iron metabolism disease' SubClassOf 'mineral metabolism disease' 'iron metabolism disease' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0002273 plasma protein metabolism disease 'plasma protein metabolism disease' SubClassOf 'inborn errors of metabolism' 'plasma protein metabolism disease' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0002270 viral gastritis 'viral gastritis' SubClassOf 'gastritis' 'viral gastritis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0002289 iris disorder 'iris disorder' SubClassOf 'uveal disorder' 'iris disorder' SubClassOf 'uveal disorder' http://purl.obolibrary.org/obo/MONDO_0002283 neuroaxonal dystrophy 'neuroaxonal dystrophy' SubClassOf 'neurodegenerative disease' 'neuroaxonal dystrophy' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease 'renal artery disease' SubClassOf 'kidney disease' 'renal artery disease' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0002280 anemia 'anemia' SubClassOf 'hematologic disease' 'anemia' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0002281 macrocytic anemia 'macrocytic anemia' SubClassOf 'anemia' 'macrocytic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0002282 West Nile fever 'West Nile fever' SubClassOf 'vector-borne disease' 'West Nile fever' SubClassOf 'vector-borne disease' http://purl.obolibrary.org/obo/MONDO_0002295 skin glomus tumor 'skin glomus tumor' SubClassOf 'glomus tumor' 'skin glomus tumor' SubClassOf 'dermis tumor' 'skin glomus tumor' SubClassOf 'glomus tumor' 'skin glomus tumor' SubClassOf 'dermis tumor' http://purl.obolibrary.org/obo/MONDO_0002297 epidermal appendage tumor 'epidermal appendage tumor' SubClassOf 'skin neoplasm' 'epidermal appendage tumor' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0002291 cutaneous granular cell tumor 'cutaneous granular cell tumor' SubClassOf 'Granular Cell Tumor' 'cutaneous granular cell tumor' SubClassOf 'dermis tumor' 'cutaneous granular cell tumor' SubClassOf 'Granular Cell Tumor' 'cutaneous granular cell tumor' SubClassOf 'dermis tumor' http://purl.obolibrary.org/obo/MONDO_0016907 partial deletion of the long arm of chromosome 8 'partial deletion of the long arm of chromosome 8' SubClassOf 'partial deletion of chromosome 8' 'partial deletion of the long arm of chromosome 8' SubClassOf 'partial deletion of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016908 partial monosomy of the long arm of chromosome 9 'partial monosomy of the long arm of chromosome 9' SubClassOf 'partial deletion of chromosome 9' 'partial monosomy of the long arm of chromosome 9' SubClassOf 'partial deletion of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0016909 partial monosomy of the long arm of chromosome 10 'partial monosomy of the long arm of chromosome 10' SubClassOf 'partial deletion of chromosome 10' 'partial monosomy of the long arm of chromosome 10' SubClassOf 'partial deletion of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0016903 partial deletion of the long arm of chromosome 4 'partial deletion of the long arm of chromosome 4' SubClassOf 'partial deletion of chromosome 4' 'partial deletion of the long arm of chromosome 4' SubClassOf 'partial deletion of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0016904 partial deletion of the long arm of chromosome 5 'partial deletion of the long arm of chromosome 5' SubClassOf 'partial deletion of chromosome 5' 'partial deletion of the long arm of chromosome 5' SubClassOf 'partial deletion of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0016905 partial deletion of the long arm of chromosome 6 'partial deletion of the long arm of chromosome 6' SubClassOf 'partial deletion of chromosome 6' 'partial deletion of the long arm of chromosome 6' SubClassOf 'partial deletion of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0016906 partial deletion of the long arm of chromosome 7 'partial deletion of the long arm of chromosome 7' SubClassOf 'partial deletion of chromosome 7' 'partial deletion of the long arm of chromosome 7' SubClassOf 'partial deletion of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0016901 partial deletion of the long arm of chromosome 2 'partial deletion of the long arm of chromosome 2' SubClassOf 'partial deletion of chromosome 2' 'partial deletion of the long arm of chromosome 2' SubClassOf 'partial deletion of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016902 partial deletion of the long arm of chromosome 3 'partial deletion of the long arm of chromosome 3' SubClassOf 'partial deletion of chromosome 3' 'partial deletion of the long arm of chromosome 3' SubClassOf 'partial deletion of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0016918 partial deletion of the long arm of chromosome 20 'partial deletion of the long arm of chromosome 20' SubClassOf 'partial deletion of chromosome 20' 'partial deletion of the long arm of chromosome 20' SubClassOf 'partial deletion of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016914 partial deletion of the long arm of chromosome 16 'partial deletion of the long arm of chromosome 16' SubClassOf 'partial deletion of chromosome 16' 'partial deletion of the long arm of chromosome 16' SubClassOf 'partial deletion of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016915 partial deletion of the long arm of chromosome 17 'partial deletion of the long arm of chromosome 17' SubClassOf 'partial deletion of chromosome 17' 'partial deletion of the long arm of chromosome 17' SubClassOf 'partial deletion of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0016917 partial deletion of the long arm of chromosome 19 'partial deletion of the long arm of chromosome 19' SubClassOf 'partial deletion of chromosome 19' 'partial deletion of the long arm of chromosome 19' SubClassOf 'partial deletion of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0016910 partial deletion of the long arm of chromosome 11 'partial deletion of the long arm of chromosome 11' SubClassOf 'partial deletion of chromosome 11' 'partial deletion of the long arm of chromosome 11' SubClassOf 'partial deletion of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0016939 partial duplication of the short arm of chromosome 2 'partial duplication of the short arm of chromosome 2' SubClassOf 'partial duplication of chromosome 2' 'partial duplication of the short arm of chromosome 2' SubClassOf 'partial duplication of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0002304 protein S deficiency 'protein S deficiency' SubClassOf 'thrombophilia' 'protein S deficiency' SubClassOf 'thrombophilia' http://purl.obolibrary.org/obo/MONDO_0002300 dermis tumor 'dermis tumor' SubClassOf 'skin neoplasm' 'dermis tumor' SubClassOf 'skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0016947 partial duplication of the short arm of chromosome 10 'partial duplication of the short arm of chromosome 10' SubClassOf 'partial duplication of chromosome 10' 'partial duplication of the short arm of chromosome 10' SubClassOf 'partial duplication of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0016948 partial duplication of the short arm of chromosome 11 'partial duplication of the short arm of chromosome 11' SubClassOf 'partial duplication of chromosome 11' 'partial duplication of the short arm of chromosome 11' SubClassOf 'partial duplication of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0016949 partial duplication of the short arm of chromosome 16 'partial duplication of the short arm of chromosome 16' SubClassOf 'partial duplication of chromosome 16' 'partial duplication of the short arm of chromosome 16' SubClassOf 'partial duplication of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016943 partial duplication of the short arm of chromosome 6 'partial duplication of the short arm of chromosome 6' SubClassOf 'partial duplication of chromosome 6' 'partial duplication of the short arm of chromosome 6' SubClassOf 'partial duplication of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0016944 partial duplication of the short arm of chromosome 7 'partial duplication of the short arm of chromosome 7' SubClassOf 'partial duplication of chromosome 7' 'partial duplication of the short arm of chromosome 7' SubClassOf 'partial duplication of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0016945 partial duplication of the short arm of chromosome 8 'partial duplication of the short arm of chromosome 8' SubClassOf 'partial duplication of chromosome 8' 'partial duplication of the short arm of chromosome 8' SubClassOf 'partial duplication of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016940 partial duplication of the short arm of chromosome 3 'partial duplication of the short arm of chromosome 3' SubClassOf 'partial duplication of chromosome 3' 'partial duplication of the short arm of chromosome 3' SubClassOf 'partial duplication of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0016941 partial duplication of the short arm of chromosome 4 'partial duplication of the short arm of chromosome 4' SubClassOf 'partial duplication of chromosome 4' 'partial duplication of the short arm of chromosome 4' SubClassOf 'partial duplication of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0016942 partial trisomy/tetrasomy of the short arm of chromosome 5 'partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf 'partial trisomy/tetrasomy of chromosome 5' 'partial trisomy/tetrasomy of the short arm of chromosome 5' SubClassOf 'partial trisomy/tetrasomy of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0002307 blepharoconjunctivitis 'blepharoconjunctivitis' SubClassOf 'blepharitis' 'blepharoconjunctivitis' SubClassOf 'conjunctivitis' 'blepharoconjunctivitis' SubClassOf 'blepharitis' 'blepharoconjunctivitis' SubClassOf 'conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0002314 chronic conjunctivitis 'chronic conjunctivitis' SubClassOf 'conjunctivitis' 'chronic conjunctivitis' SubClassOf 'conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0002316 motor peripheral neuropathy 'motor peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'motor peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0002311 retinal vascular disorder 'retinal vascular disorder' SubClassOf 'retinopathy' 'retinal vascular disorder' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0002312 opportunistic mycosis 'opportunistic mycosis' SubClassOf 'fungal infectious disease' 'opportunistic mycosis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0016958 partial duplication of the long arm of chromosome 7 'partial duplication of the long arm of chromosome 7' SubClassOf 'partial duplication of chromosome 7' 'partial duplication of the long arm of chromosome 7' SubClassOf 'partial duplication of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0016959 partial duplication of the long arm of chromosome 8 'partial duplication of the long arm of chromosome 8' SubClassOf 'partial duplication of chromosome 8' 'partial duplication of the long arm of chromosome 8' SubClassOf 'partial duplication of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016954 partial duplication of the long arm of chromosome 3 'partial duplication of the long arm of chromosome 3' SubClassOf 'partial duplication of chromosome 3' 'partial duplication of the long arm of chromosome 3' SubClassOf 'partial duplication of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0016955 partial duplication of the long arm of chromosome 4 'partial duplication of the long arm of chromosome 4' SubClassOf 'partial duplication of chromosome 4' 'partial duplication of the long arm of chromosome 4' SubClassOf 'partial duplication of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0016956 partial trisomy of the long arm of chromosome 5 'partial trisomy of the long arm of chromosome 5' SubClassOf 'partial trisomy/tetrasomy of chromosome 5' 'partial trisomy of the long arm of chromosome 5' SubClassOf 'partial trisomy/tetrasomy of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0016957 partial duplication of the long arm of chromosome 6 'partial duplication of the long arm of chromosome 6' SubClassOf 'partial duplication of chromosome 6' 'partial duplication of the long arm of chromosome 6' SubClassOf 'partial duplication of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0016950 partial duplication of the short arm of chromosome 17 'partial duplication of the short arm of chromosome 17' SubClassOf 'partial duplication of chromosome 17' 'partial duplication of the short arm of chromosome 17' SubClassOf 'partial duplication of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0016951 partial trisomy/tetrasomy of the short arm of chromosome 18 'partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'partial trisomy/tetrasomy of chromosome 18' 'partial trisomy/tetrasomy of the short arm of chromosome 18' SubClassOf 'partial trisomy/tetrasomy of chromosome 18' http://purl.obolibrary.org/obo/MONDO_0016952 partial duplication of the long arm of chromosome 1 'partial duplication of the long arm of chromosome 1' SubClassOf 'partial duplication of chromosome 1' 'partial duplication of the long arm of chromosome 1' SubClassOf 'partial duplication of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0016953 partial duplication of the long arm of chromosome 2 'partial duplication of the long arm of chromosome 2' SubClassOf 'partial duplication of chromosome 2' 'partial duplication of the long arm of chromosome 2' SubClassOf 'partial duplication of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0002317 central nervous system origin vertigo 'central nervous system origin vertigo' SubClassOf 'brain disease' 'central nervous system origin vertigo' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0002318 trachea leiomyoma 'trachea leiomyoma' SubClassOf 'leiomyoma' 'trachea leiomyoma' SubClassOf 'benign neoplasm of trachea' 'trachea leiomyoma' SubClassOf 'leiomyoma' 'trachea leiomyoma' SubClassOf 'benign neoplasm of trachea' http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus metabolism disease 'phosphorus metabolism disease' SubClassOf 'mineral metabolism disease' 'phosphorus metabolism disease' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0002321 sensory peripheral neuropathy 'sensory peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'sensory peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0016969 partial duplication of the long arm of chromosome 19 'partial duplication of the long arm of chromosome 19' SubClassOf 'partial duplication of chromosome 19' 'partial duplication of the long arm of chromosome 19' SubClassOf 'partial duplication of chromosome 19' http://www.ebi.ac.uk/efo/EFO_0005129 hepatitis C induced liver cirrhosis 'hepatitis C induced liver cirrhosis' SubClassOf 'cirrhosis of liver' 'hepatitis C induced liver cirrhosis' SubClassOf 'cirrhosis of liver' http://purl.obolibrary.org/obo/MONDO_0016966 partial trisomy of the long arm of chromosome 16 'partial trisomy of the long arm of chromosome 16' SubClassOf 'partial duplication of chromosome 16' 'partial trisomy of the long arm of chromosome 16' SubClassOf 'partial duplication of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016967 partial duplication of the long arm of chromosome 17 'partial duplication of the long arm of chromosome 17' SubClassOf 'partial duplication of chromosome 17' 'partial duplication of the long arm of chromosome 17' SubClassOf 'partial duplication of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0016968 partial trisomy of the long arm of chromosome 18 'partial trisomy of the long arm of chromosome 18' SubClassOf 'partial trisomy/tetrasomy of chromosome 18' 'partial trisomy of the long arm of chromosome 18' SubClassOf 'partial trisomy/tetrasomy of chromosome 18' http://purl.obolibrary.org/obo/MONDO_0016961 partial duplication of the long arm of chromosome 10 'partial duplication of the long arm of chromosome 10' SubClassOf 'partial duplication of chromosome 10' 'partial duplication of the long arm of chromosome 10' SubClassOf 'partial duplication of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0016960 partial trisomy of the long arm of chromosome 9 'partial trisomy of the long arm of chromosome 9' SubClassOf 'partial trisomy/tetrasomy of chromosome 9' 'partial trisomy of the long arm of chromosome 9' SubClassOf 'partial trisomy/tetrasomy of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0002337 intra-abdominal hemangioma 'intra-abdominal hemangioma' SubClassOf 'hemangioma' 'intra-abdominal hemangioma' EquivalentTo 'hemangioma' and ('disease has location' some 'abdominal cavity') 'intra-abdominal hemangioma' SubClassOf 'hemangioma' 'intra-abdominal hemangioma' EquivalentTo 'hemangioma' and ('disease has location' some 'abdominal cavity') http://purl.obolibrary.org/obo/MONDO_0002331 nephrosis 'nephrosis' SubClassOf 'kidney disease' 'nephrosis' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0002333 splenic abscess 'splenic abscess' SubClassOf 'abscess' 'splenic abscess' SubClassOf 'splenic disease' 'splenic abscess' SubClassOf 'splenic disease' 'splenic abscess' SubClassOf 'abscess' http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm 'hematopoietic and lymphoid system neoplasm' SubClassOf 'neoplasm' 'hematopoietic and lymphoid system neoplasm' SubClassOf 'hematologic disease' 'hematopoietic and lymphoid system neoplasm' SubClassOf 'neoplasm' 'hematopoietic and lymphoid system neoplasm' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0016979 MRCS syndrome 'MRCS syndrome' SubClassOf 'inherited retinal dystrophy' 'MRCS syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0016974 thymoma type B 'thymoma type B' SubClassOf 'leukocyte disorder' 'thymoma type B' SubClassOf 'Thymoma' 'thymoma type B' SubClassOf 'leukocyte disorder' 'thymoma type B' SubClassOf 'Thymoma' http://purl.obolibrary.org/obo/MONDO_0016970 partial trisomy of the long arm of chromosome 20 'partial trisomy of the long arm of chromosome 20' SubClassOf 'partial trisomy of chromosome 20' 'partial trisomy of the long arm of chromosome 20' SubClassOf 'partial trisomy of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016971 limb-girdle muscular dystrophy 'limb-girdle muscular dystrophy' SubClassOf 'progressive muscular dystrophy' 'limb-girdle muscular dystrophy' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0041903 gonococcal infection of joint 'gonococcal infection of joint' SubClassOf 'gonorrhea' 'gonococcal infection of joint' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/MONDO_0002100 cardiovascular cancer 'cardiovascular cancer' SubClassOf 'cardiovascular neoplasm' 'cardiovascular cancer' SubClassOf 'cancer' 'cardiovascular cancer' SubClassOf 'cardiovascular neoplasm' 'cardiovascular cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0002101 facial nerve neoplasm 'facial nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'facial nerve neoplasm' SubClassOf 'cranial nerve neoplasm' http://purl.obolibrary.org/obo/MONDO_0002102 cheilitis 'cheilitis' SubClassOf 'lip disorder' 'cheilitis' SubClassOf 'lip disorder' http://purl.obolibrary.org/obo/MONDO_0016749 tumor of cranial and spinal nerves 'tumor of cranial and spinal nerves' SubClassOf 'nervous system neoplasm' 'tumor of cranial and spinal nerves' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0016747 primary melanoma of the central nervous system 'primary melanoma of the central nervous system' SubClassOf 'central nervous system melanocytic neoplasm' 'primary melanoma of the central nervous system' SubClassOf 'Non-Cutaneous Melanoma' 'primary melanoma of the central nervous system' SubClassOf 'central nervous system melanocytic neoplasm' 'primary melanoma of the central nervous system' SubClassOf 'Non-Cutaneous Melanoma' http://purl.obolibrary.org/obo/MONDO_0016748 hemangioblastoma 'hemangioblastoma' SubClassOf 'capillary hemangioma' 'hemangioblastoma' SubClassOf 'capillary hemangioma' http://purl.obolibrary.org/obo/MONDO_0016740 choriocarcinoma of the central nervous system 'choriocarcinoma of the central nervous system' SubClassOf 'choriocarcinoma' 'choriocarcinoma of the central nervous system' SubClassOf 'extragonadal nonseminomatous germ cell tumor' 'choriocarcinoma of the central nervous system' SubClassOf 'central nervous system cancer' 'choriocarcinoma of the central nervous system' SubClassOf 'choriocarcinoma' 'choriocarcinoma of the central nervous system' SubClassOf 'extragonadal nonseminomatous germ cell tumor' 'choriocarcinoma of the central nervous system' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0002108 thyroid cancer 'thyroid cancer' SubClassOf 'thyroid neoplasm' 'thyroid cancer' SubClassOf 'thyroid neoplasm' http://purl.obolibrary.org/obo/MONDO_0002116 malignant exocrine pancreas neoplasm 'malignant exocrine pancreas neoplasm' SubClassOf 'pancreatic exocrine neoplasm' 'malignant exocrine pancreas neoplasm' SubClassOf 'Malignant Pancreatic Neoplasm' 'malignant exocrine pancreas neoplasm' SubClassOf 'pancreatic exocrine neoplasm' 'malignant exocrine pancreas neoplasm' SubClassOf 'Malignant Pancreatic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002117 pancreas sarcoma 'pancreas sarcoma' SubClassOf 'soft tissue sarcoma' 'pancreas sarcoma' SubClassOf 'Malignant Pancreatic Neoplasm' 'pancreas sarcoma' SubClassOf 'soft tissue sarcoma' 'pancreas sarcoma' SubClassOf 'Malignant Pancreatic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002112 benign peritoneal mesothelioma 'benign peritoneal mesothelioma' SubClassOf 'Peritoneal Mesothelioma' 'benign peritoneal mesothelioma' SubClassOf 'Peritoneal Mesothelioma' http://purl.obolibrary.org/obo/MONDO_0002114 pancreas lymphoma 'pancreas lymphoma' SubClassOf 'Malignant Pancreatic Neoplasm' 'pancreas lymphoma' SubClassOf 'gastrointestinal lymphoma' 'pancreas lymphoma' SubClassOf 'Malignant Pancreatic Neoplasm' 'pancreas lymphoma' SubClassOf 'gastrointestinal lymphoma' http://purl.obolibrary.org/obo/MONDO_0016757 malignant triton tumor 'malignant triton tumor' SubClassOf 'malignant peripheral nerve sheath tumor' 'malignant triton tumor' SubClassOf 'malignant peripheral nerve sheath tumor' http://purl.obolibrary.org/obo/MONDO_0016758 microcephaly-brain defect-spasticity-hypernatremia syndrome 'microcephaly-brain defect-spasticity-hypernatremia syndrome' SubClassOf 'syndromic disease' 'microcephaly-brain defect-spasticity-hypernatremia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016759 pontocerebellar hypoplasia type 2 'pontocerebellar hypoplasia type 2' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 2' SubClassOf 'bulbospinal muscular atrophy' 'pontocerebellar hypoplasia type 2' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 2' SubClassOf 'bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0016752 benign peripheral nerve sheath tumor 'benign peripheral nerve sheath tumor' SubClassOf 'tumor of cranial and spinal nerves' 'benign peripheral nerve sheath tumor' SubClassOf 'tumor of cranial and spinal nerves' http://purl.obolibrary.org/obo/MONDO_0016750 microcephaly-cleft palate syndrome 'microcephaly-cleft palate syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-cleft palate syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016751 malignant perineurioma 'malignant perineurioma' SubClassOf 'perineurioma' 'malignant perineurioma' SubClassOf 'peripheral nervous system cancer' 'malignant perineurioma' SubClassOf 'perineurioma' 'malignant perineurioma' SubClassOf 'peripheral nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0002122 neuritis 'neuritis' SubClassOf 'peripheral neuropathy' 'neuritis' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0002123 calcinosis 'calcinosis' SubClassOf 'calcium metabolic disease' 'calcinosis' SubClassOf 'calcium metabolic disease' http://purl.obolibrary.org/obo/MONDO_0002120 neuroendocrine carcinoma 'neuroendocrine carcinoma' SubClassOf 'carcinoma' 'neuroendocrine carcinoma' SubClassOf 'malignant endocrine neoplasm' 'neuroendocrine carcinoma' SubClassOf 'neuroendocrine neoplasm' 'neuroendocrine carcinoma' EquivalentTo 'malignant endocrine neoplasm' and 'carcinoma' and 'neuroendocrine neoplasm' 'neuroendocrine carcinoma' SubClassOf 'carcinoma' 'neuroendocrine carcinoma' SubClassOf 'malignant endocrine neoplasm' 'neuroendocrine carcinoma' SubClassOf 'neuroendocrine neoplasm' 'neuroendocrine carcinoma' EquivalentTo 'malignant endocrine neoplasm' and 'carcinoma' and 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0016763 spondylometaphyseal dysplasia 'spondylometaphyseal dysplasia' SubClassOf 'skeletal dysplasia' 'spondylometaphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016764 isolated anophthalmia-microphthalmia syndrome 'isolated anophthalmia-microphthalmia syndrome' SubClassOf 'eye disease' 'isolated anophthalmia-microphthalmia syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0016765 19p13.12 microdeletion syndrome '19p13.12 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 19' '19p13.12 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0016760 microcephaly-microcornea syndrome, Seemanova type 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'disorder of visual system' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'syndromic disease' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'disorder of visual system' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016761 spondyloepiphyseal dysplasia 'spondyloepiphyseal dysplasia' SubClassOf 'skeletal dysplasia' 'spondyloepiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'spondyloepiphyseal dysplasia' SubClassOf 'skeletal dysplasia' 'spondyloepiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0016762 microcornea-corectopia-macular hypoplasia syndrome 'microcornea-corectopia-macular hypoplasia syndrome' SubClassOf 'eye disease' 'microcornea-corectopia-macular hypoplasia syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0002137 noninfectious dermatoses of eyelid 'noninfectious dermatoses of eyelid' SubClassOf 'blepharitis' 'noninfectious dermatoses of eyelid' SubClassOf 'blepharitis' http://purl.obolibrary.org/obo/MONDO_0002138 allergic contact dermatitis of eyelid 'allergic contact dermatitis of eyelid' SubClassOf 'noninfectious dermatoses of eyelid' 'allergic contact dermatitis of eyelid' SubClassOf 'allergic contact dermatitis' 'allergic contact dermatitis of eyelid' SubClassOf 'noninfectious dermatoses of eyelid' 'allergic contact dermatitis of eyelid' SubClassOf 'allergic contact dermatitis' http://purl.obolibrary.org/obo/MONDO_0002134 physiological sexual disorder 'physiological sexual disorder' SubClassOf 'reproductive system disease' 'physiological sexual disorder' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0002135 optic nerve disorder 'optic nerve disorder' SubClassOf 'cranial nerve neuropathy' 'optic nerve disorder' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0002132 skull cancer 'skull cancer' SubClassOf 'Malignant Bone Neoplasm' 'skull cancer' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/MONDO_0016778 iatrogenic botulism 'iatrogenic botulism' SubClassOf 'botulism' 'iatrogenic botulism' SubClassOf 'botulism' http://purl.obolibrary.org/obo/MONDO_0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'multiple congenital anomalies due to 14q32.2 imprinting defect' 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'multiple congenital anomalies due to 14q32.2 imprinting defect' 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0002149 reproductive system cancer 'reproductive system cancer' SubClassOf 'reproductive system neoplasm' 'reproductive system cancer' SubClassOf 'cancer' 'reproductive system cancer' SubClassOf 'reproductive system neoplasm' 'reproductive system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0002145 disorder of sexual differentiation 'disorder of sexual differentiation' SubClassOf 'developmental defect during embryogenesis' 'disorder of sexual differentiation' SubClassOf 'gonadal disorder' 'disorder of sexual differentiation' SubClassOf 'developmental defect during embryogenesis' 'disorder of sexual differentiation' SubClassOf 'gonadal disorder' http://purl.obolibrary.org/obo/MONDO_0002146 hypogonadism 'hypogonadism' SubClassOf 'gonadal disorder' 'hypogonadism' SubClassOf 'gonadal disorder' http://purl.obolibrary.org/obo/MONDO_0002140 vagina sarcoma 'vagina sarcoma' SubClassOf 'vaginal cancer' 'vagina sarcoma' SubClassOf 'soft tissue sarcoma' 'vagina sarcoma' SubClassOf 'vaginal cancer' 'vagina sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002143 vaginal yolk sac tumor 'vaginal yolk sac tumor' SubClassOf 'endodermal sinus tumor' 'vaginal yolk sac tumor' SubClassOf 'endodermal sinus tumor' http://purl.obolibrary.org/obo/MONDO_0016789 pyruvate metabolism disorder 'pyruvate metabolism disorder' SubClassOf 'inborn disorder of energy metabolism' 'pyruvate metabolism disorder' SubClassOf 'inborn disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0016785 complete hydatidiform mole 'complete hydatidiform mole' SubClassOf 'Hydatidiform Mole' 'complete hydatidiform mole' SubClassOf 'Hydatidiform Mole' http://purl.obolibrary.org/obo/MONDO_0016781 maternal 14q32.2 microdeletion syndrome 'maternal 14q32.2 microdeletion syndrome' SubClassOf 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'maternal 14q32.2 microdeletion syndrome' SubClassOf 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' http://purl.obolibrary.org/obo/MONDO_0016782 paternal 14q32.2 hypomethylation syndrome 'paternal 14q32.2 hypomethylation syndrome' SubClassOf 'motor developmental delay due to 14q32.2 paternally expressed gene defect' 'paternal 14q32.2 hypomethylation syndrome' SubClassOf 'motor developmental delay due to 14q32.2 paternally expressed gene defect' http://purl.obolibrary.org/obo/MONDO_0016783 maternal 14q32.2 hypermethylation syndrome 'maternal 14q32.2 hypermethylation syndrome' SubClassOf 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' 'maternal 14q32.2 hypermethylation syndrome' SubClassOf 'multiple congenital anomalies due to 14q32.2 maternally expressed gene defect' http://purl.obolibrary.org/obo/MONDO_0016780 paternal 14q32.2 microdeletion syndrome 'paternal 14q32.2 microdeletion syndrome' SubClassOf 'motor developmental delay due to 14q32.2 paternally expressed gene defect' 'paternal 14q32.2 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' 'paternal 14q32.2 microdeletion syndrome' SubClassOf 'motor developmental delay due to 14q32.2 paternally expressed gene defect' 'paternal 14q32.2 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0002159 fallopian tube leiomyosarcoma 'fallopian tube leiomyosarcoma' SubClassOf 'fallopian tube cancer' 'fallopian tube leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'fallopian tube leiomyosarcoma' SubClassOf 'fallopian tube cancer' 'fallopian tube leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002158 fallopian tube cancer 'fallopian tube cancer' SubClassOf 'fallopian tube neoplasm' 'fallopian tube cancer' SubClassOf 'Genital neoplasm, female' 'fallopian tube cancer' SubClassOf 'fallopian tube neoplasm' 'fallopian tube cancer' SubClassOf 'Genital neoplasm, female' http://purl.obolibrary.org/obo/MONDO_0002150 hypothalamic disorder 'hypothalamic disorder' SubClassOf 'thalamic disorder' 'hypothalamic disorder' SubClassOf 'thalamic disorder' http://purl.obolibrary.org/obo/MONDO_0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form 'mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0016798 ataxia neuropathy spectrum 'ataxia neuropathy spectrum' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'ataxia neuropathy spectrum' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0016790 tricarboxylic acid cycle disorder 'tricarboxylic acid cycle disorder' SubClassOf 'inborn disorder of energy metabolism' 'tricarboxylic acid cycle disorder' SubClassOf 'inborn disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0002166 rectum lymphoma 'rectum lymphoma' SubClassOf 'rectum cancer' 'rectum lymphoma' SubClassOf 'colorectal lymphoma' 'rectum lymphoma' SubClassOf 'rectum cancer' 'rectum lymphoma' SubClassOf 'colorectal lymphoma' http://purl.obolibrary.org/obo/MONDO_0002167 rectum malignant melanoma 'rectum malignant melanoma' SubClassOf 'rectum cancer' 'rectum malignant melanoma' SubClassOf 'rectum cancer' http://purl.obolibrary.org/obo/MONDO_0002168 rectum sarcoma 'rectum sarcoma' SubClassOf 'sarcoma' 'rectum sarcoma' SubClassOf 'rectum cancer' 'rectum sarcoma' SubClassOf 'sarcoma' 'rectum sarcoma' SubClassOf 'rectum cancer' http://purl.obolibrary.org/obo/MONDO_0002162 fallopian tube adenosarcoma 'fallopian tube adenosarcoma' SubClassOf 'adenosarcoma' 'fallopian tube adenosarcoma' SubClassOf 'adenosarcoma' http://purl.obolibrary.org/obo/MONDO_0002163 thymus lipoma 'thymus lipoma' SubClassOf 'lipoma' 'thymus lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0002165 rectal neoplasm 'rectal neoplasm' SubClassOf 'rectal disease' 'rectal neoplasm' SubClassOf 'colorectal neoplasm' 'rectal neoplasm' SubClassOf 'rectal disease' 'rectal neoplasm' SubClassOf 'colorectal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002177 hyperinsulinism 'hyperinsulinism' SubClassOf 'endocrine pancreas disorder' 'hyperinsulinism' SubClassOf 'glucose metabolism disease' 'hyperinsulinism' SubClassOf 'endocrine pancreas disorder' 'hyperinsulinism' SubClassOf 'glucose metabolism disease' http://purl.obolibrary.org/obo/MONDO_0002178 placenta cancer 'placenta cancer' SubClassOf 'placenta neoplasm' 'placenta cancer' SubClassOf 'placenta neoplasm' http://purl.obolibrary.org/obo/MONDO_0002175 degeneration of macula and posterior pole 'degeneration of macula and posterior pole' SubClassOf 'macular degeneration' 'degeneration of macula and posterior pole' SubClassOf 'macular degeneration' http://purl.obolibrary.org/obo/MONDO_0002170 chronic eustachian salpingitis 'chronic eustachian salpingitis' SubClassOf 'otosalpingitis' 'chronic eustachian salpingitis' SubClassOf 'otosalpingitis' http://purl.obolibrary.org/obo/MONDO_0002171 giant cell tumor 'giant cell tumor' SubClassOf 'neoplasm' 'giant cell tumor' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0002172 otosalpingitis 'otosalpingitis' SubClassOf 'eustachian tube disease' 'otosalpingitis' SubClassOf 'eustachian tube disease' http://purl.obolibrary.org/obo/MONDO_0002185 hyperostosis 'hyperostosis' SubClassOf 'bone remodeling disease' 'hyperostosis' SubClassOf 'bone remodeling disease' http://purl.obolibrary.org/obo/MONDO_0002186 acute maxillary sinusitis 'acute maxillary sinusitis' SubClassOf 'maxillary sinusitis' 'acute maxillary sinusitis' SubClassOf 'maxillary sinusitis' http://purl.obolibrary.org/obo/MONDO_0002187 vulvar disease 'vulvar disease' SubClassOf 'female reproductive system disease' 'vulvar disease' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0002181 exostosis 'exostosis' SubClassOf 'hyperostosis' 'exostosis' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0002182 communication disorder 'communication disorder' SubClassOf 'specific developmental disorder' 'communication disorder' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0002190 vulvar syringoma 'vulvar syringoma' SubClassOf 'vulvar benign neoplasm' 'vulvar syringoma' SubClassOf 'benign neoplasm of sweat gland' 'vulvar syringoma' SubClassOf 'syringoma' 'vulvar syringoma' SubClassOf 'benign neoplasm of sweat gland' 'vulvar syringoma' SubClassOf 'vulvar benign neoplasm' 'vulvar syringoma' SubClassOf 'syringoma' http://purl.obolibrary.org/obo/MONDO_0002195 vulvar squamous neoplasm 'vulvar squamous neoplasm' SubClassOf 'squamous cell neoplasm' 'vulvar squamous neoplasm' SubClassOf 'vulvar neoplasm' 'vulvar squamous neoplasm' EquivalentTo 'squamous cell neoplasm' and ('disease has location' some 'mammalian vulva') 'vulvar squamous neoplasm' SubClassOf 'squamous cell neoplasm' 'vulvar squamous neoplasm' SubClassOf 'vulvar neoplasm' 'vulvar squamous neoplasm' EquivalentTo 'squamous cell neoplasm' and ('disease has location' some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0002198 vulvar glandular neoplasm 'vulvar glandular neoplasm' SubClassOf 'glandular cell neoplasm' 'vulvar glandular neoplasm' SubClassOf 'vulvar neoplasm' 'vulvar glandular neoplasm' SubClassOf 'glandular cell neoplasm' 'vulvar glandular neoplasm' SubClassOf 'vulvar neoplasm' http://purl.obolibrary.org/obo/MONDO_0002191 syringoma 'syringoma' SubClassOf 'sweat gland neoplasm' 'syringoma' SubClassOf 'sweat gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0002192 vulvar angiokeratoma 'vulvar angiokeratoma' SubClassOf 'vulvar benign neoplasm' 'vulvar angiokeratoma' SubClassOf 'angiokeratoma of Fordyce' 'vulvar angiokeratoma' SubClassOf 'vulvar benign neoplasm' 'vulvar angiokeratoma' SubClassOf 'angiokeratoma of Fordyce' http://purl.obolibrary.org/obo/MONDO_0002193 Bartholin gland benign neoplasm 'Bartholin gland benign neoplasm' SubClassOf 'vestibular gland benign neoplasm' 'Bartholin gland benign neoplasm' SubClassOf 'vestibular gland benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002194 vestibular papilloma 'vestibular papilloma' SubClassOf 'squamous papilloma' 'vestibular papilloma' SubClassOf 'vulvar benign neoplasm' 'vestibular papilloma' SubClassOf 'vulvar squamous neoplasm' 'vestibular papilloma' SubClassOf 'squamous papilloma' 'vestibular papilloma' SubClassOf 'vulvar benign neoplasm' 'vestibular papilloma' SubClassOf 'vulvar squamous neoplasm' http://www.ebi.ac.uk/efo/EFO_0005400 chemotherapy-induced alopecia 'chemotherapy-induced alopecia' SubClassOf 'disease has location' some 'head' 'chemotherapy-induced alopecia' SubClassOf 'alopecia' 'chemotherapy-induced alopecia' SubClassOf 'disease has location' some 'head' 'chemotherapy-induced alopecia' SubClassOf 'alopecia' http://www.ebi.ac.uk/efo/EFO_0005406 colorectal adenoma 'colorectal adenoma' SubClassOf 'colorectal neoplasm' 'colorectal adenoma' SubClassOf 'Digestive System Adenoma' 'colorectal adenoma' SubClassOf 'Digestive System Adenoma' 'colorectal adenoma' SubClassOf 'colorectal neoplasm' http://www.ebi.ac.uk/efo/EFO_0005407 psychosis 'psychosis' SubClassOf 'mental or behavioural disorder' 'psychosis' SubClassOf 'cognitive disorder' 'psychosis' SubClassOf 'mental or behavioural disorder' 'psychosis' SubClassOf 'cognitive disorder' http://www.ebi.ac.uk/efo/EFO_0005424 dyslexia 'dyslexia' SubClassOf 'reading disorder' 'dyslexia' SubClassOf 'reading disorder' http://www.ebi.ac.uk/efo/EFO_0005425 language impairment 'language impairment' SubClassOf 'specific language impairment' 'language impairment' SubClassOf 'specific language impairment' http://www.ebi.ac.uk/efo/EFO_0005423 adolescent idiopathic scoliosis 'adolescent idiopathic scoliosis' SubClassOf 'idiopathic scoliosis' 'adolescent idiopathic scoliosis' SubClassOf 'idiopathic scoliosis' http://www.ebi.ac.uk/efo/EFO_0005410 tooth agenesis 'tooth agenesis' SubClassOf 'tooth disease' 'tooth agenesis' SubClassOf 'tooth disease' http://www.ebi.ac.uk/efo/EFO_0005411 schizoaffective disorder 'schizoaffective disorder' SubClassOf 'psychosis' 'schizoaffective disorder' SubClassOf 'psychosis' http://purl.obolibrary.org/obo/MONDO_0016806 maternally-inherited mitochondrial dystonia 'maternally-inherited mitochondrial dystonia' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'maternally-inherited mitochondrial dystonia' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0016807 pure mitochondrial myopathy 'pure mitochondrial myopathy' SubClassOf 'mitochondrial disease' 'pure mitochondrial myopathy' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0016800 mitochondrial membrane transport disorder 'mitochondrial membrane transport disorder' SubClassOf 'inborn mitochondrial metabolism disorder' 'mitochondrial membrane transport disorder' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0016801 mitochondrial substrate carrier disorder 'mitochondrial substrate carrier disorder' SubClassOf 'mitochondrial membrane transport disorder' 'mitochondrial substrate carrier disorder' SubClassOf 'mitochondrial membrane transport disorder' http://purl.obolibrary.org/obo/MONDO_0016802 mitochondrial protein import disorder 'mitochondrial protein import disorder' SubClassOf 'mitochondrial membrane transport disorder' 'mitochondrial protein import disorder' SubClassOf 'mitochondrial membrane transport disorder' http://purl.obolibrary.org/obo/MONDO_0016819 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 'Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome' SubClassOf 'Mobius syndrome' 'Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome' SubClassOf 'Mobius syndrome' 'Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0016817 Meier-Gorlin syndrome 'Meier-Gorlin syndrome' SubClassOf 'autosomal recessive disease' 'Meier-Gorlin syndrome' SubClassOf 'syndromic disease' 'Meier-Gorlin syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Meier-Gorlin syndrome' SubClassOf 'autosomal recessive disease' 'Meier-Gorlin syndrome' SubClassOf 'syndromic disease' 'Meier-Gorlin syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0016812 dopa-responsive dystonia 'dopa-responsive dystonia' SubClassOf 'nervous system disease' 'dopa-responsive dystonia' SubClassOf 'metabolic disease' 'dopa-responsive dystonia' SubClassOf 'nervous system disease' 'dopa-responsive dystonia' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0016814 maternally-inherited Leigh syndrome 'maternally-inherited Leigh syndrome' SubClassOf 'Leigh syndrome' 'maternally-inherited Leigh syndrome' SubClassOf 'Leigh syndrome' http://purl.obolibrary.org/obo/MONDO_0016826 methylmalonic aciduria and homocystinuria 'methylmalonic aciduria and homocystinuria' SubClassOf 'methylmalonic acidemia' 'methylmalonic aciduria and homocystinuria' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'methylmalonic aciduria and homocystinuria' SubClassOf 'classic organic aciduria' 'methylmalonic aciduria and homocystinuria' SubClassOf 'homocystinuria' 'methylmalonic aciduria and homocystinuria' SubClassOf 'methylmalonic acidemia' 'methylmalonic aciduria and homocystinuria' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'methylmalonic aciduria and homocystinuria' SubClassOf 'classic organic aciduria' 'methylmalonic aciduria and homocystinuria' SubClassOf 'homocystinuria' http://purl.obolibrary.org/obo/MONDO_0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome 'myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf 'syndromic disease' 'myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016828 autosomal recessive sideroblastic anemia 'autosomal recessive sideroblastic anemia' SubClassOf 'autosomal recessive disease' 'autosomal recessive sideroblastic anemia' SubClassOf 'inherited sideroblastic anemia' 'autosomal recessive sideroblastic anemia' SubClassOf 'autosomal recessive disease' 'autosomal recessive sideroblastic anemia' SubClassOf 'inherited sideroblastic anemia' http://purl.obolibrary.org/obo/MONDO_0016829 familial visceral myopathy 'familial visceral myopathy' SubClassOf 'intestinal motility disease' 'familial visceral myopathy' SubClassOf 'visceral myopathy 1' 'familial visceral myopathy' SubClassOf 'intestinal motility disease' 'familial visceral myopathy' SubClassOf 'visceral myopathy 1' http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis 'infantile myofibromatosis' SubClassOf 'benign perivascular tumor' 'infantile myofibromatosis' SubClassOf 'benign perivascular tumor' http://purl.obolibrary.org/obo/MONDO_0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome 'mitochondrial myopathy-lactic acidosis-deafness syndrome' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial myopathy-lactic acidosis-deafness syndrome' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0016820 Moyamoya disease 'Moyamoya disease' SubClassOf 'cerebral arterial disease' 'Moyamoya disease' SubClassOf 'cerebral arterial disease' http://purl.obolibrary.org/obo/MONDO_0016821 shoulder and girdle defects-familial intellectual disability syndrome 'shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf 'syndromic disease' 'shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016837 16p13.11 microduplication syndrome '16p13.11 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' '16p13.11 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016838 16q24.3 microdeletion syndrome '16q24.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 16' '16q24.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016839 distal 17p13.3 microdeletion syndrome 'distal 17p13.3 microdeletion syndrome' SubClassOf 'chromosome 17p deletion' 'distal 17p13.3 microdeletion syndrome' SubClassOf 'chromosome 17p deletion' http://purl.obolibrary.org/obo/MONDO_0016833 14q12 microdeletion syndrome '14q12 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' '14q12 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0016834 16p11.2p12.2 microduplication syndrome '16p11.2p12.2 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' '16p11.2p12.2 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016835 14q11.2 microduplication syndrome '14q11.2 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 14' '14q11.2 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0016836 16p13.11 microdeletion syndrome '16p13.11 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' '16p13.11 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy 'Emery-Dreifuss muscular dystrophy' SubClassOf 'progressive muscular dystrophy' 'Emery-Dreifuss muscular dystrophy' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0041806 drug-resistant tuberculosis 'drug-resistant tuberculosis' SubClassOf 'tuberculosis' 'drug-resistant tuberculosis' SubClassOf 'tuberculosis' http://purl.obolibrary.org/obo/MONDO_0002203 constipation disorder 'constipation disorder' SubClassOf 'disease has major feature' some 'Constipation' 'constipation disorder' SubClassOf 'bowel dysfunction' 'constipation disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Constipation') 'constipation disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Constipation') 'constipation disorder' SubClassOf 'bowel dysfunction' 'constipation disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Constipation' http://purl.obolibrary.org/obo/MONDO_0002204 transient arthritis 'transient arthritis' SubClassOf 'transient arthropathy' 'transient arthritis' SubClassOf 'transient arthropathy' http://purl.obolibrary.org/obo/MONDO_0002205 vulvar melanoma 'vulvar melanoma' SubClassOf 'vulva cancer' 'vulvar melanoma' SubClassOf 'Non-Cutaneous Melanoma' 'vulvar melanoma' SubClassOf 'vulva cancer' 'vulvar melanoma' SubClassOf 'Non-Cutaneous Melanoma' http://purl.obolibrary.org/obo/MONDO_0002206 sweat gland cancer 'sweat gland cancer' SubClassOf 'sweat gland neoplasm' 'sweat gland cancer' SubClassOf 'skin cancer' 'sweat gland cancer' SubClassOf 'sweat gland neoplasm' 'sweat gland cancer' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/MONDO_0002201 vulvar trichoepithelioma 'vulvar trichoepithelioma' SubClassOf 'vulvar benign neoplasm' 'vulvar trichoepithelioma' SubClassOf 'vulvar benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0016844 trisomy 20p 'trisomy 20p' SubClassOf 'partial trisomy of chromosome 20' 'trisomy 20p' SubClassOf 'partial trisomy of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016845 21q22.11q22.12 microdeletion syndrome '21q22.11q22.12 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 21' '21q22.11q22.12 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 21' http://purl.obolibrary.org/obo/MONDO_0016847 trisomy 1q 'trisomy 1q' SubClassOf 'partial duplication of the long arm of chromosome 1' 'trisomy 1q' SubClassOf 'partial duplication of the long arm of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0016840 trisomy 17p 'trisomy 17p' SubClassOf 'partial duplication of the short arm of chromosome 17' 'trisomy 17p' SubClassOf 'partial duplication of the short arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0016841 20p12.3 microdeletion syndrome '20p12.3 microdeletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome 20' '20p12.3 microdeletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016842 paternal 20q13.2q13.3 microdeletion syndrome 'paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 20' 'paternal 20q13.2q13.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0016843 20q13.33 microdeletion syndrome '20q13.33 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 20' '20q13.33 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0002207 vulval Paget disease 'vulval Paget disease' SubClassOf 'vulvar adenocarcinoma' 'vulval Paget disease' SubClassOf 'Extramammary Paget Disease' 'vulval Paget disease' SubClassOf 'vulvar adenocarcinoma' 'vulval Paget disease' SubClassOf 'Extramammary Paget Disease' http://purl.obolibrary.org/obo/MONDO_0002214 brain germinoma 'brain germinoma' SubClassOf 'brain cancer' 'brain germinoma' SubClassOf 'central nervous system germinoma' 'brain germinoma' SubClassOf 'brain cancer' 'brain germinoma' SubClassOf 'central nervous system germinoma' http://purl.obolibrary.org/obo/MONDO_0002216 brain sarcoma 'brain sarcoma' SubClassOf 'brain cancer' 'brain sarcoma' SubClassOf 'central nervous system sarcoma' 'brain sarcoma' SubClassOf 'brain cancer' 'brain sarcoma' SubClassOf 'central nervous system sarcoma' http://purl.obolibrary.org/obo/MONDO_0002217 central nervous system sarcoma 'central nervous system sarcoma' SubClassOf 'soft tissue sarcoma' 'central nervous system sarcoma' SubClassOf 'central nervous system cancer' 'central nervous system sarcoma' SubClassOf 'soft tissue sarcoma' 'central nervous system sarcoma' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0002211 B cell deficiency 'B cell deficiency' SubClassOf 'inborn error of immunity' 'B cell deficiency' SubClassOf 'immunodeficiency disease' 'B cell deficiency' SubClassOf 'inborn error of immunity' 'B cell deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0016859 blepharophimosis-epicanthus inversus-ptosis due to copy number variations 'blepharophimosis-epicanthus inversus-ptosis due to copy number variations' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' 'blepharophimosis-epicanthus inversus-ptosis due to copy number variations' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' http://purl.obolibrary.org/obo/MONDO_0016855 Mowat-Wilson syndrome due to monosomy 2q22 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'Mowat-Wilson syndrome' 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'partial deletion of the long arm of chromosome 2' 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'Mowat-Wilson syndrome' 'Mowat-Wilson syndrome due to monosomy 2q22' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016856 Mowat-Wilson syndrome due to a ZEB2 point mutation 'Mowat-Wilson syndrome due to a ZEB2 point mutation' SubClassOf 'Mowat-Wilson syndrome' 'Mowat-Wilson syndrome due to a ZEB2 point mutation' SubClassOf 'Mowat-Wilson syndrome' http://purl.obolibrary.org/obo/MONDO_0016857 blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome 'blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' 'blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' 'blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' 'blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' http://purl.obolibrary.org/obo/MONDO_0016858 blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome 'blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' 'blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' http://purl.obolibrary.org/obo/MONDO_0016851 maternal uniparental disomy of chromosome X 'maternal uniparental disomy of chromosome X' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome X' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0016852 paternal uniparental disomy of chromosome X 'paternal uniparental disomy of chromosome X' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome X' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0016854 49,XXXYY syndrome '49,XXXYY syndrome' SubClassOf 'aneuploidy' '49,XXXYY syndrome' SubClassOf 'aneuploidy' http://purl.obolibrary.org/obo/MONDO_0016850 atypical Norrie disease due to monosomy Xp11.3 'atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'partial monosomy of the short arm of chromosome X' 'atypical Norrie disease due to monosomy Xp11.3' SubClassOf 'partial monosomy of the short arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0002218 temporal lobe cancer 'temporal lobe cancer' SubClassOf 'cerebral hemisphere cancer' 'temporal lobe cancer' SubClassOf 'neoplasm of temporal lobe' 'temporal lobe cancer' SubClassOf 'cerebral hemisphere cancer' 'temporal lobe cancer' SubClassOf 'neoplasm of temporal lobe' http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia 'inherited deficiency anemia' SubClassOf 'deficiency anemia' 'inherited deficiency anemia' SubClassOf 'deficiency anemia' http://purl.obolibrary.org/obo/MONDO_0016625 acquired deficiency anemia 'acquired deficiency anemia' SubClassOf 'deficiency anemia' 'acquired deficiency anemia' SubClassOf 'deficiency anemia' http://purl.obolibrary.org/obo/MONDO_0016620 primary hypertrophic osteoarthropathy 'primary hypertrophic osteoarthropathy' SubClassOf 'syndromic disease' 'primary hypertrophic osteoarthropathy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016621 juvenile Huntington disease 'juvenile Huntington disease' SubClassOf 'Huntington disease' 'juvenile Huntington disease' SubClassOf 'Huntington disease' http://purl.obolibrary.org/obo/MONDO_0016622 Melhem-Fahl syndrome 'Melhem-Fahl syndrome' SubClassOf 'syndromic disease' 'Melhem-Fahl syndrome' SubClassOf 'dysostosis' 'Melhem-Fahl syndrome' SubClassOf 'genetic disorder' 'Melhem-Fahl syndrome' SubClassOf 'syndromic disease' 'Melhem-Fahl syndrome' SubClassOf 'dysostosis' 'Melhem-Fahl syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016639 lower limb deficiency-hypospadias syndrome 'lower limb deficiency-hypospadias syndrome' SubClassOf 'syndromic disease' 'lower limb deficiency-hypospadias syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016630 isolated delta-storage pool disease 'isolated delta-storage pool disease' SubClassOf 'inherited thrombocytopenia' 'isolated delta-storage pool disease' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0002003 papilledema 'papilledema' SubClassOf 'optic nerve disorder' http://purl.obolibrary.org/obo/MONDO_0002004 atheroembolism of kidney 'atheroembolism of kidney' SubClassOf 'cholesterol embolism' 'atheroembolism of kidney' SubClassOf 'kidney disease' 'atheroembolism of kidney' SubClassOf 'cholesterol embolism' 'atheroembolism of kidney' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0002000 anaerobic meningitis 'anaerobic meningitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic meningitis' SubClassOf 'bacterial meningitis' 'anaerobic meningitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic meningitis' SubClassOf 'bacterial meningitis' http://purl.obolibrary.org/obo/MONDO_0016646 autosomal dominant optic atrophy and peripheral neuropathy 'autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'autosomal dominant optic atrophy' 'autosomal dominant optic atrophy and peripheral neuropathy' SubClassOf 'autosomal dominant optic atrophy' http://purl.obolibrary.org/obo/MONDO_0016648 multiple epiphyseal dysplasia 'multiple epiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'multiple epiphyseal dysplasia' SubClassOf 'skeletal dysplasia' 'multiple epiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'multiple epiphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016649 Warburg micro syndrome 'Warburg micro syndrome' SubClassOf 'lissencephaly spectrum disorders' 'Warburg micro syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Warburg micro syndrome' SubClassOf 'autosomal recessive disease' 'Warburg micro syndrome' SubClassOf 'RAB18 deficiency' 'Warburg micro syndrome' SubClassOf 'lissencephaly spectrum disorders' 'Warburg micro syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Warburg micro syndrome' SubClassOf 'autosomal recessive disease' 'Warburg micro syndrome' SubClassOf 'RAB18 deficiency' http://purl.obolibrary.org/obo/MONDO_0016642 meningioma 'meningioma' SubClassOf 'meningeal neoplasm' 'meningioma' SubClassOf 'meningeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0016643 frontonasal dysplasia 'frontonasal dysplasia' SubClassOf 'dysostosis' 'frontonasal dysplasia' SubClassOf 'genetic disorder' 'frontonasal dysplasia' SubClassOf 'dysostosis' 'frontonasal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016641 limb transversal defect-cardiac anomaly syndrome 'limb transversal defect-cardiac anomaly syndrome' SubClassOf 'genetic disorder' 'limb transversal defect-cardiac anomaly syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002017 olivopontocerebellar atrophy 'olivopontocerebellar atrophy' SubClassOf 'neurodegenerative disease' 'olivopontocerebellar atrophy' SubClassOf 'disease shares features of' some 'cerebellar ataxia' 'olivopontocerebellar atrophy' SubClassOf 'neurodegenerative disease' 'olivopontocerebellar atrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0002012 methylmalonic acidemia 'methylmalonic acidemia' SubClassOf 'inborn organic aciduria' 'methylmalonic acidemia' SubClassOf 'inborn organic aciduria' http://purl.obolibrary.org/obo/MONDO_0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type 'autosomal recessive Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome, vascular type' 'autosomal recessive Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome, vascular type' http://purl.obolibrary.org/obo/MONDO_0016657 8p11.2 deletion syndrome '8p11.2 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 8' '8p11.2 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016658 8p23.1 microdeletion syndrome '8p23.1 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 8' '8p23.1 microdeletion syndrome' SubClassOf 'syndromic disease' '8p23.1 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 8' '8p23.1 microdeletion syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016659 8p23.1 duplication syndrome '8p23.1 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 8' '8p23.1 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016653 2q33.1 microdeletion syndrome '2q33.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' '2q33.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016655 6p22 microdeletion syndrome '6p22 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 6' '6p22 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0016656 7q31 microdeletion syndrome '7q31 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 7' '7q31 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0016650 paternal uniparental disomy of chromosome 1 'paternal uniparental disomy of chromosome 1' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 1' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0016651 maternal uniparental disomy of chromosome 1 'maternal uniparental disomy of chromosome 1' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 1' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0016652 2q31.1 microdeletion syndrome '2q31.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' '2q31.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0002028 personality disorder 'personality disorder' SubClassOf 'psychiatric disorder' 'personality disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0002029 chronic gonorrhea of cervix 'chronic gonorrhea of cervix' SubClassOf 'gonococcal cervicitis' 'chronic gonorrhea of cervix' SubClassOf 'chronic cervicitis' 'chronic gonorrhea of cervix' SubClassOf 'gonococcal cervicitis' 'chronic gonorrhea of cervix' SubClassOf 'chronic cervicitis' http://purl.obolibrary.org/obo/MONDO_0002026 candidiasis 'candidiasis' SubClassOf 'opportunistic mycosis' 'candidiasis' SubClassOf 'opportunistic mycosis' http://purl.obolibrary.org/obo/MONDO_0016668 sickle cell-beta-thalassemia disease syndrome 'sickle cell-beta-thalassemia disease syndrome' SubClassOf 'syndromic disease' 'sickle cell-beta-thalassemia disease syndrome' SubClassOf 'inherited hemoglobinopathy' 'sickle cell-beta-thalassemia disease syndrome' SubClassOf 'syndromic disease' 'sickle cell-beta-thalassemia disease syndrome' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016669 sickle cell-hemoglobin c disease syndrome 'sickle cell-hemoglobin c disease syndrome' SubClassOf 'sickle cell anemia' 'sickle cell-hemoglobin c disease syndrome' SubClassOf 'syndromic disease' 'sickle cell-hemoglobin c disease syndrome' SubClassOf 'sickle cell anemia' 'sickle cell-hemoglobin c disease syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016664 drug-induced vasculitis 'drug-induced vasculitis' SubClassOf 'secondary vasculitis' 'drug-induced vasculitis' SubClassOf 'secondary vasculitis' http://purl.obolibrary.org/obo/MONDO_0016660 autosomal recessive primary microcephaly 'autosomal recessive primary microcephaly' SubClassOf 'isolated congenital microcephaly' 'autosomal recessive primary microcephaly' SubClassOf 'isolated congenital microcephaly' http://purl.obolibrary.org/obo/MONDO_0016663 overlapping connective tissue disease 'overlapping connective tissue disease' SubClassOf 'connective tissue disease' 'overlapping connective tissue disease' SubClassOf 'type II hypersensitivity reaction disease' 'overlapping connective tissue disease' SubClassOf 'connective tissue disease' 'overlapping connective tissue disease' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0002038 head and neck carcinoma 'head and neck carcinoma' SubClassOf 'head and neck malignant neoplasia' 'head and neck carcinoma' SubClassOf 'carcinoma' 'head and neck carcinoma' SubClassOf 'head and neck malignant neoplasia' 'head and neck carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0002039 cognitive disorder 'cognitive disorder' SubClassOf 'psychiatric disorder' 'cognitive disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0002034 cecum lymphoma 'cecum lymphoma' SubClassOf 'colon lymphoma' 'cecum lymphoma' SubClassOf 'cecum cancer' 'cecum lymphoma' SubClassOf 'colon lymphoma' 'cecum lymphoma' SubClassOf 'cecum cancer' http://purl.obolibrary.org/obo/MONDO_0002035 colon lymphoma 'colon lymphoma' SubClassOf 'malignant colon neoplasm' 'colon lymphoma' SubClassOf 'malignant colon neoplasm' http://purl.obolibrary.org/obo/MONDO_0002036 penile disorder 'penile disorder' SubClassOf 'male reproductive system disease' 'penile disorder' SubClassOf 'male reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0002037 pleural disorder 'pleural disorder' SubClassOf 'lower respiratory tract disease' 'pleural disorder' SubClassOf 'lower respiratory tract disease' http://purl.obolibrary.org/obo/MONDO_0002030 chronic cervicitis 'chronic cervicitis' SubClassOf 'cervicitis' 'chronic cervicitis' SubClassOf 'cervicitis' http://purl.obolibrary.org/obo/MONDO_0002033 cecum cancer 'cecum cancer' SubClassOf 'malignant colon neoplasm' 'cecum cancer' SubClassOf 'cecal neoplasm' 'cecum cancer' SubClassOf 'malignant colon neoplasm' 'cecum cancer' SubClassOf 'cecal neoplasm' http://purl.obolibrary.org/obo/MONDO_0016675 distal arthrogryposis type 10 'distal arthrogryposis type 10' SubClassOf 'distal arthrogryposis' 'distal arthrogryposis type 10' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0016676 recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome 'recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome' SubClassOf 'disorder of zinc metabolism' 'recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome' SubClassOf 'disorder of zinc metabolism' http://purl.obolibrary.org/obo/MONDO_0016677 toxic or drug-related embryofetopathy 'toxic or drug-related embryofetopathy' SubClassOf 'developmental defect during embryogenesis' 'toxic or drug-related embryofetopathy' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0016671 sickle cell-hemoglobin E disease syndrome 'sickle cell-hemoglobin E disease syndrome' SubClassOf 'syndromic disease' 'sickle cell-hemoglobin E disease syndrome' SubClassOf 'inherited hemoglobinopathy' 'sickle cell-hemoglobin E disease syndrome' SubClassOf 'syndromic disease' 'sickle cell-hemoglobin E disease syndrome' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016672 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 'hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf 'syndromic disease' 'hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf 'inherited hemoglobinopathy' 'hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf 'syndromic disease' 'hereditary persistence of fetal hemoglobin-sickle cell disease syndrome' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016673 localized junctional epidermolysis bullosa, non-Herlitz type 'localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa, non-Herlitz type' 'localized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa, non-Herlitz type' http://purl.obolibrary.org/obo/MONDO_0016674 46,XY partial gonadal dysgenesis '46,XY partial gonadal dysgenesis' SubClassOf '46,XY disorder of sex development' '46,XY partial gonadal dysgenesis' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0016670 sickle cell-hemoglobin d disease syndrome 'sickle cell-hemoglobin d disease syndrome' SubClassOf 'syndromic disease' 'sickle cell-hemoglobin d disease syndrome' SubClassOf 'inherited hemoglobinopathy' 'sickle cell-hemoglobin d disease syndrome' SubClassOf 'syndromic disease' 'sickle cell-hemoglobin d disease syndrome' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0002046 alcohol abuse 'alcohol abuse' SubClassOf 'substance abuse' 'alcohol abuse' SubClassOf 'alcohol-related disorders' 'alcohol abuse' SubClassOf 'substance abuse' 'alcohol abuse' SubClassOf 'alcohol-related disorders' http://purl.obolibrary.org/obo/MONDO_0002041 fungal infectious disease 'fungal infectious disease' SubClassOf 'infectious disease' 'fungal infectious disease' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0002043 ectropion 'ectropion' SubClassOf 'eyelid disease' 'ectropion' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0002040 dermatomycosis 'dermatomycosis' SubClassOf 'cutaneous mycosis' 'dermatomycosis' SubClassOf 'cutaneous mycosis' http://purl.obolibrary.org/obo/MONDO_0016683 gliomatosis cerebri 'gliomatosis cerebri' SubClassOf 'high grade astrocytic tumor' 'gliomatosis cerebri' SubClassOf 'high grade astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0016685 low-grade astrocytoma 'low-grade astrocytoma' SubClassOf 'astrocytoma' 'low-grade astrocytoma' SubClassOf 'astrocytoma' http://purl.obolibrary.org/obo/MONDO_0016680 high grade astrocytic tumor 'high grade astrocytic tumor' SubClassOf 'astrocytic tumor' 'high grade astrocytic tumor' SubClassOf 'malignant glioma' 'high grade astrocytic tumor' SubClassOf 'astrocytic tumor' 'high grade astrocytic tumor' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0002057 breast leiomyoma 'breast leiomyoma' SubClassOf 'leiomyoma' 'breast leiomyoma' SubClassOf 'breast benign neoplasm' 'breast leiomyoma' SubClassOf 'leiomyoma' 'breast leiomyoma' SubClassOf 'breast benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002058 breast adenoma 'breast adenoma' SubClassOf 'breast benign neoplasm' 'breast adenoma' SubClassOf 'adenoma' 'breast adenoma' SubClassOf 'breast benign neoplasm' 'breast adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0002052 lymphadenitis 'lymphadenitis' SubClassOf 'lymph node disorder' 'lymphadenitis' SubClassOf 'inflammatory disease' 'lymphadenitis' SubClassOf 'lymph node disorder' 'lymphadenitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002050 depressive disorder 'depressive disorder' SubClassOf 'mood disorder' 'depressive disorder' SubClassOf 'mood disorder' http://purl.obolibrary.org/obo/MONDO_0016697 low grade ependymoma 'low grade ependymoma' SubClassOf 'ependymoma' 'low grade ependymoma' SubClassOf 'ependymoma' http://purl.obolibrary.org/obo/MONDO_0016693 subependymal giant cell astrocytoma 'subependymal giant cell astrocytoma' SubClassOf 'low-grade astrocytoma' 'subependymal giant cell astrocytoma' SubClassOf 'Subependymoma' 'subependymal giant cell astrocytoma' SubClassOf 'low-grade astrocytoma' 'subependymal giant cell astrocytoma' SubClassOf 'Subependymoma' http://purl.obolibrary.org/obo/MONDO_0016690 pleomorphic xanthoastrocytoma 'pleomorphic xanthoastrocytoma' SubClassOf 'low-grade astrocytoma' 'pleomorphic xanthoastrocytoma' SubClassOf 'low-grade astrocytoma' http://purl.obolibrary.org/obo/MONDO_0016691 pilocytic astrocytoma 'pilocytic astrocytoma' SubClassOf 'low-grade astrocytoma' 'pilocytic astrocytoma' SubClassOf 'low-grade astrocytoma' http://purl.obolibrary.org/obo/MONDO_0016692 pilomyxoid astrocytoma 'pilomyxoid astrocytoma' SubClassOf 'pilocytic astrocytoma' 'pilomyxoid astrocytoma' SubClassOf 'pilocytic astrocytoma' http://purl.obolibrary.org/obo/MONDO_0002060 intraductal papilloma 'intraductal papilloma' SubClassOf 'papilloma' 'intraductal papilloma' SubClassOf 'papilloma' http://purl.obolibrary.org/obo/MONDO_0002061 intraductal papillary breast neoplasm 'intraductal papillary breast neoplasm' SubClassOf 'intraductal breast neoplasm' 'intraductal papillary breast neoplasm' SubClassOf 'intraductal breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0002078 heart septal defect 'heart septal defect' SubClassOf 'congenital heart disease' 'heart septal defect' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0002076 pneumothorax 'pneumothorax' SubClassOf 'pleural disorder' 'pneumothorax' SubClassOf 'pleural disorder' http://purl.obolibrary.org/obo/MONDO_0002070 ventricular septal defect 'ventricular septal defect' SubClassOf 'heart septal defect' 'ventricular septal defect' SubClassOf 'heart septal defect' http://purl.obolibrary.org/obo/MONDO_0002071 supratentorial cancer 'supratentorial cancer' SubClassOf 'brain cancer' 'supratentorial cancer' SubClassOf 'brain cancer' http://purl.obolibrary.org/obo/MONDO_0002073 malignant pineal area germ cell neoplasm 'malignant pineal area germ cell neoplasm' SubClassOf 'pineal gland cancer' 'malignant pineal area germ cell neoplasm' SubClassOf 'pineal gland cancer' http://purl.obolibrary.org/obo/MONDO_0002089 retinal vascular occlusion 'retinal vascular occlusion' SubClassOf 'retinal vascular disorder' 'retinal vascular occlusion' SubClassOf 'retinal vascular disorder' http://purl.obolibrary.org/obo/MONDO_0002087 peritoneum cancer 'peritoneum cancer' SubClassOf 'cancer' 'peritoneum cancer' SubClassOf 'peritoneal neoplasm' 'peritoneum cancer' SubClassOf 'cancer' 'peritoneum cancer' SubClassOf 'peritoneal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002083 Richter syndrome 'Richter syndrome' SubClassOf 'disease arises from feature' some 'chronic lymphocytic leukemia' 'Richter syndrome' SubClassOf 'neoplastic syndrome' 'Richter syndrome' SubClassOf 'disease arises from feature' some 'chronic lymphocytic leukemia' 'Richter syndrome' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0002090 eccrine sweat gland neoplasm 'eccrine sweat gland neoplasm' SubClassOf 'sweat gland neoplasm' 'eccrine sweat gland neoplasm' SubClassOf 'sweat gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0002092 small intestine leiomyoma 'small intestine leiomyoma' SubClassOf 'benign neoplasm of small intestine' 'small intestine leiomyoma' SubClassOf 'leiomyoma' 'small intestine leiomyoma' SubClassOf 'benign neoplasm of small intestine' 'small intestine leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/MONDO_0002093 acanthoma 'acanthoma' SubClassOf 'benign epithelial skin neoplasm' 'acanthoma' SubClassOf 'benign epithelial skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0002095 vascular cancer 'vascular cancer' SubClassOf 'blood vessel neoplasm' 'vascular cancer' SubClassOf 'cardiovascular cancer' 'vascular cancer' SubClassOf 'blood vessel neoplasm' 'vascular cancer' SubClassOf 'cardiovascular cancer' http://purl.obolibrary.org/obo/MONDO_0100493 autosomal recessive titinopathy 'autosomal recessive titinopathy' SubClassOf 'TTN-related myopathy' 'autosomal recessive titinopathy' SubClassOf 'TTN-related myopathy' http://purl.obolibrary.org/obo/MONDO_0100494 autosomal dominant titinopathy 'autosomal dominant titinopathy' SubClassOf 'TTN-related myopathy' 'autosomal dominant titinopathy' SubClassOf 'TTN-related myopathy' http://purl.obolibrary.org/obo/MONDO_0100498 UROD-related inherited porphyria 'UROD-related inherited porphyria' SubClassOf 'inherited porphyria' 'UROD-related inherited porphyria' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0100499 multiple congenital anomalies due to 14q32.2 imprinting defect 'multiple congenital anomalies due to 14q32.2 imprinting defect' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' 'multiple congenital anomalies due to 14q32.2 imprinting defect' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0100472 lissencephaly spectrum disorder with complex brainstem malformation 'lissencephaly spectrum disorder with complex brainstem malformation' SubClassOf 'lissencephaly spectrum disorders' 'lissencephaly spectrum disorder with complex brainstem malformation' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100473 disorder of peptide and amine metabolism 'disorder of peptide and amine metabolism' SubClassOf 'inborn errors of metabolism' 'disorder of peptide and amine metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0100475 severe ichthyosis vulgaris 'severe ichthyosis vulgaris' SubClassOf 'autosomal dominant ichthyosis vulgaris' 'severe ichthyosis vulgaris' SubClassOf 'autosomal dominant ichthyosis vulgaris' http://purl.obolibrary.org/obo/MONDO_0100477 disorder of methylamine metabolism 'disorder of methylamine metabolism' SubClassOf 'disorder of peptide and amine metabolism' 'disorder of methylamine metabolism' SubClassOf 'disorder of peptide and amine metabolism' http://purl.obolibrary.org/obo/MONDO_0100486 adult acne 'adult acne' SubClassOf 'acne' 'adult acne' SubClassOf 'acne' http://purl.obolibrary.org/obo/MONDO_0100571 CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy 'CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy' SubClassOf 'genetic disorder' 'CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100554 hereditary narcolepsy 'hereditary narcolepsy' SubClassOf 'narcolepsy' 'hereditary narcolepsy' SubClassOf 'narcolepsy' http://purl.obolibrary.org/obo/MONDO_0100555 IgA nephropathy, susceptibility to 'IgA nephropathy, susceptibility to' SubClassOf 'predisposes towards' some 'IGA glomerulonephritis' 'IgA nephropathy, susceptibility to' SubClassOf 'inherited disease susceptibility' 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'IGA glomerulonephritis') 'IgA nephropathy, susceptibility to' SubClassOf 'inherited disease susceptibility' 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'IGA glomerulonephritis') 'IgA nephropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'IGA glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0100556 PRRT2-associated paroxysmal movement disorder 'PRRT2-associated paroxysmal movement disorder' SubClassOf 'movement disorder' 'PRRT2-associated paroxysmal movement disorder' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0100558 RNU4ATAC spectrum disorder 'RNU4ATAC spectrum disorder' SubClassOf 'syndromic disease' 'RNU4ATAC spectrum disorder' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0100559 ALG14-congenital disorder of glycosylation 'ALG14-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation' 'ALG14-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0100563 digenic alpha thalassemia spectrum 'digenic alpha thalassemia spectrum' SubClassOf 'alpha thalassemia spectrum' 'digenic alpha thalassemia spectrum' SubClassOf 'alpha thalassemia spectrum' http://purl.obolibrary.org/obo/MONDO_0100530 myopathy caused by variation in CRPPA 'myopathy caused by variation in CRPPA' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in CRPPA' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0100534 SMARCB1-deficient kidney medullary carcinoma 'SMARCB1-deficient kidney medullary carcinoma' SubClassOf 'Kidney Medullary Carcinoma' 'SMARCB1-deficient kidney medullary carcinoma' SubClassOf 'Kidney Medullary Carcinoma' http://purl.obolibrary.org/obo/MONDO_0858956 diffuse leptomeningeal glioneuronal tumor 'diffuse leptomeningeal glioneuronal tumor' SubClassOf 'central nervous system organ benign neoplasm' 'diffuse leptomeningeal glioneuronal tumor' SubClassOf 'central nervous system organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0858958 high-grade astrocytoma with piloid features 'high-grade astrocytoma with piloid features' SubClassOf 'anaplastic astrocytoma' 'high-grade astrocytoma with piloid features' SubClassOf 'anaplastic astrocytoma' http://purl.obolibrary.org/obo/MONDO_0100540 GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes 'GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes' SubClassOf 'congenital heart disease' 'GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0100541 GATA5-related congenital heart defects 'GATA5-related congenital heart defects' SubClassOf 'congenital heart disease' 'GATA5-related congenital heart defects' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0100545 hereditary neurological disease 'hereditary neurological disease' SubClassOf 'nervous system disease' 'hereditary neurological disease' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0100546 hereditary neuromuscular disease 'hereditary neuromuscular disease' SubClassOf 'neuromuscular disease' 'hereditary neuromuscular disease' SubClassOf 'neuromuscular disease' http://purl.obolibrary.org/obo/MONDO_0100547 cardiogenetic disease 'cardiogenetic disease' SubClassOf 'heart disease' 'cardiogenetic disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0858940 infant-type hemispheric glioma 'infant-type hemispheric glioma' SubClassOf 'astrocytic tumor' 'infant-type hemispheric glioma' SubClassOf 'astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0100510 spondyloepimetaphyseal dysplasia 'spondyloepimetaphyseal dysplasia' SubClassOf 'skeletal dysplasia' 'spondyloepimetaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'spondyloepimetaphyseal dysplasia' SubClassOf 'skeletal dysplasia' 'spondyloepimetaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0100512 mitochondrial DNA depletion syndrome, hepatocerebral form 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0100513 TRAF3 haploinsufficiency 'TRAF3 haploinsufficiency' SubClassOf 'genetic disorder' 'TRAF3 haploinsufficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100514 familial ovarian carcinoma 'familial ovarian carcinoma' SubClassOf 'ovarian carcinoma' 'familial ovarian carcinoma' SubClassOf 'ovarian carcinoma' http://purl.obolibrary.org/obo/MONDO_0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 'diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype' SubClassOf 'malignant glioma' 'diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0100516 complex neurodevelopmental disorder with motor features 'complex neurodevelopmental disorder with motor features' SubClassOf 'complex neurodevelopmental disorder' 'complex neurodevelopmental disorder with motor features' SubClassOf 'complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100517 PSAP-related sphingolipidosis 'PSAP-related sphingolipidosis' SubClassOf 'sphingolipidosis' 'PSAP-related sphingolipidosis' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0100518 hereditary attention deficit-hyperactivity disorder 'hereditary attention deficit-hyperactivity disorder' SubClassOf 'attention deficit hyperactivity disorder' 'hereditary attention deficit-hyperactivity disorder' SubClassOf 'attention deficit hyperactivity disorder' http://purl.obolibrary.org/obo/MONDO_0100521 NOG-related symphalangism spectrum disorder 'NOG-related symphalangism spectrum disorder' SubClassOf 'symphalangism' 'NOG-related symphalangism spectrum disorder' SubClassOf 'symphalangism' http://purl.obolibrary.org/obo/MONDO_0100522 hypotrichosis 4 'hypotrichosis 4' SubClassOf 'Marie Unna hereditary hypotrichosis' 'hypotrichosis 4' SubClassOf 'Marie Unna hereditary hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0100523 SPAST-related motor disorder 'SPAST-related motor disorder' SubClassOf 'central nervous system disease' 'SPAST-related motor disorder' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0100524 ASAH1-related sphingolipidosis 'ASAH1-related sphingolipidosis' SubClassOf 'sphingolipidosis' 'ASAH1-related sphingolipidosis' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0100526 breast-ovarian cancer, familial, susceptibility to 'breast-ovarian cancer, familial, susceptibility to' SubClassOf 'inherited disease susceptibility' 'breast-ovarian cancer, familial, susceptibility to' SubClassOf 'inherited disease susceptibility' http://www.ebi.ac.uk/efo/EFO_0005304 atrial conduction disease 'atrial conduction disease' SubClassOf 'conduction system disorder' 'atrial conduction disease' SubClassOf 'conduction system disorder' http://www.ebi.ac.uk/efo/EFO_0005307 torsades de pointes 'torsades de pointes' SubClassOf 'ventricular tachycardia' 'torsades de pointes' SubClassOf 'ventricular tachycardia' http://www.ebi.ac.uk/efo/EFO_0005308 atrial tachycardia 'atrial tachycardia' SubClassOf 'cardiac rhythm disease' 'atrial tachycardia' SubClassOf 'cardiac rhythm disease' http://www.ebi.ac.uk/efo/EFO_0005305 atrioventricular node disease 'atrioventricular node disease' SubClassOf 'conduction system disorder' 'atrioventricular node disease' SubClassOf 'conduction system disorder' http://www.ebi.ac.uk/efo/EFO_0005306 ventricular tachycardia 'ventricular tachycardia' SubClassOf 'cardiac rhythm disease' 'ventricular tachycardia' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0100509 IFT140-related recessive ciliopathy 'IFT140-related recessive ciliopathy' SubClassOf 'ciliopathy' 'IFT140-related recessive ciliopathy' SubClassOf 'ciliopathy' http://www.ebi.ac.uk/efo/EFO_0005320 contact dermatitis due to nickel 'contact dermatitis due to nickel' SubClassOf 'contact dermatitis' 'contact dermatitis due to nickel' SubClassOf 'contact dermatitis' http://www.ebi.ac.uk/efo/EFO_0005319 contact dermatitis 'contact dermatitis' SubClassOf 'dermatitis' 'contact dermatitis' SubClassOf 'dermatitis' http://purl.obolibrary.org/obo/MONDO_0016707 astroblastoma 'astroblastoma' SubClassOf 'glioma' 'astroblastoma' SubClassOf 'glioma' http://purl.obolibrary.org/obo/MONDO_0016700 anaplastic ependymoma 'anaplastic ependymoma' SubClassOf 'ependymal neoplasm' 'anaplastic ependymoma' SubClassOf 'grade III glioma' 'anaplastic ependymoma' SubClassOf 'ependymal neoplasm' 'anaplastic ependymoma' SubClassOf 'grade III glioma' http://purl.obolibrary.org/obo/MONDO_0016717 choroid plexus neoplasm 'choroid plexus neoplasm' SubClassOf 'disease has location' some 'brain ventricle' 'choroid plexus neoplasm' SubClassOf 'brain neoplasm' 'choroid plexus neoplasm' SubClassOf 'disease has location' some 'brain ventricle' 'choroid plexus neoplasm' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0016718 choroid plexus carcinoma 'choroid plexus carcinoma' SubClassOf 'choroid plexus cancer' 'choroid plexus carcinoma' SubClassOf 'carcinoma' 'choroid plexus carcinoma' SubClassOf 'choroid plexus cancer' 'choroid plexus carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0016719 microcephaly-seizures-intellectual disability-heart disease syndrome 'microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-seizures-intellectual disability-heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016712 classic medulloblastoma 'classic medulloblastoma' SubClassOf 'medulloblastoma' 'classic medulloblastoma' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/MONDO_0016713 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor 'central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor' SubClassOf 'central nervous system cancer' 'central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0016715 ependymoblastoma 'ependymoblastoma' SubClassOf 'central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'ependymoblastoma' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' 'ependymoblastoma' SubClassOf 'central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'ependymoblastoma' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' http://purl.obolibrary.org/obo/MONDO_0016710 medulloblastoma with extensive nodularity 'medulloblastoma with extensive nodularity' SubClassOf 'medulloblastoma' 'medulloblastoma with extensive nodularity' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/MONDO_0016711 desmoplastic/nodular medulloblastoma 'desmoplastic/nodular medulloblastoma' SubClassOf 'medulloblastoma' 'desmoplastic/nodular medulloblastoma' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/MONDO_0016727 extraventricular neurocytoma 'extraventricular neurocytoma' SubClassOf 'mixed neuronal-glial tumor' 'extraventricular neurocytoma' SubClassOf 'mixed neuronal-glial tumor' http://purl.obolibrary.org/obo/MONDO_0016729 mixed neuronal-glial tumor 'mixed neuronal-glial tumor' SubClassOf 'neuroepithelial neoplasm' 'mixed neuronal-glial tumor' SubClassOf 'neuroepithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0016739 yolk sac tumor of central nervous system 'yolk sac tumor of central nervous system' SubClassOf 'endodermal sinus tumor' 'yolk sac tumor of central nervous system' SubClassOf 'endodermal sinus tumor' http://purl.obolibrary.org/obo/MONDO_0016735 papillary glioneuronal tumor 'papillary glioneuronal tumor' SubClassOf 'mixed neuronal-glial tumor' 'papillary glioneuronal tumor' SubClassOf 'mixed neuronal-glial tumor' http://purl.obolibrary.org/obo/MONDO_0016736 rosette-forming glioneuronal tumor of fourth ventricule 'rosette-forming glioneuronal tumor of fourth ventricule' SubClassOf 'mixed neuronal-glial tumor' 'rosette-forming glioneuronal tumor of fourth ventricule' SubClassOf 'mixed neuronal-glial tumor' http://purl.obolibrary.org/obo/MONDO_0016730 gangliocytoma 'gangliocytoma' SubClassOf 'mixed neuronal-glial tumor' 'gangliocytoma' SubClassOf 'mixed neuronal-glial tumor' http://purl.obolibrary.org/obo/MONDO_0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0016514 epidermolysis bullosa simplex with anodontia/hypodontia 'epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex with anodontia/hypodontia' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0016515 Kallmann syndrome-heart disease syndrome 'Kallmann syndrome-heart disease syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Kallmann syndrome-heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Kallmann syndrome-heart disease syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Kallmann syndrome-heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0016516 Kenny-Caffey syndrome 'Kenny-Caffey syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' 'Kenny-Caffey syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'disorder of development or morphogenesis' 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016511 infectious embryofetopathy 'infectious embryofetopathy' SubClassOf 'infectious disease' 'infectious embryofetopathy' SubClassOf 'developmental defect during embryogenesis' 'infectious embryofetopathy' SubClassOf 'infectious disease' 'infectious embryofetopathy' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0016512 Kabuki syndrome 'Kabuki syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kabuki syndrome' SubClassOf 'syndromic disease' 'Kabuki syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kabuki syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016529 duplication of urethra 'duplication of urethra' SubClassOf 'kidney disease' 'duplication of urethra' SubClassOf 'disorder of development or morphogenesis' 'duplication of urethra' SubClassOf 'disorder of development or morphogenesis' 'duplication of urethra' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism 'familial hyperaldosteronism' SubClassOf 'primary aldosteronism' 'familial hyperaldosteronism' SubClassOf 'primary aldosteronism' http://purl.obolibrary.org/obo/MONDO_0016526 trisomy 9p 'trisomy 9p' SubClassOf 'syndrome caused by partial chromosomal duplication of the short arm of chromosome 9' 'trisomy 9p' SubClassOf 'syndrome caused by partial chromosomal duplication of the short arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0016527 glycogen storage disease due to lactate dehydrogenase deficiency 'glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0016521 muscular pseudohypertrophy-hypothyroidism syndrome 'muscular pseudohypertrophy-hypothyroidism syndrome' SubClassOf 'syndromic disease' 'muscular pseudohypertrophy-hypothyroidism syndrome' SubClassOf 'endocrine system disease' 'muscular pseudohypertrophy-hypothyroidism syndrome' SubClassOf 'syndromic disease' 'muscular pseudohypertrophy-hypothyroidism syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0016523 bronchogenic cyst 'bronchogenic cyst' SubClassOf 'disorder of development or morphogenesis' 'bronchogenic cyst' SubClassOf 'respiratory system disease' 'bronchogenic cyst' SubClassOf 'disorder of development or morphogenesis' 'bronchogenic cyst' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0016537 lymphoproliferative syndrome 'lymphoproliferative syndrome' SubClassOf 'inborn error of immunity' 'lymphoproliferative syndrome' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome 'atypical hypotonia-cystinuria syndrome' SubClassOf 'hypotonia-cystinuria syndrome' 'atypical hypotonia-cystinuria syndrome' SubClassOf 'hypotonia-cystinuria syndrome' http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome 'Lennox-Gastaut syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'Lennox-Gastaut syndrome' SubClassOf 'developmental and epileptic encephalopathy' 'Lennox-Gastaut syndrome' SubClassOf 'syndromic disease' 'Lennox-Gastaut syndrome' SubClassOf 'childhood electroclinical syndrome' 'Lennox-Gastaut syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'Lennox-Gastaut syndrome' SubClassOf 'developmental and epileptic encephalopathy' 'Lennox-Gastaut syndrome' SubClassOf 'syndromic disease' 'Lennox-Gastaut syndrome' SubClassOf 'childhood electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0016533 apolipoprotein A-II amyloidosis 'apolipoprotein A-II amyloidosis' SubClassOf 'familial visceral amyloidosis' 'apolipoprotein A-II amyloidosis' SubClassOf 'familial visceral amyloidosis' http://purl.obolibrary.org/obo/MONDO_0016535 hypohidrotic ectodermal dysplasia 'hypohidrotic ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'hypohidrotic ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0016531 digestive duplication 'digestive duplication' SubClassOf 'digestive system disease' 'digestive duplication' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0016547 Beckwith-Wiedemann syndrome due to NSD1 mutation 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to NSD1 mutation' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0016549 primary megaureter, adult-onset form 'primary megaureter, adult-onset form' SubClassOf 'congenital primary megaureter' 'primary megaureter, adult-onset form' SubClassOf 'congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'disease shares features of' some 'phenylketonuria' 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0016545 leukoencephalopathy-palmoplantar keratoderma syndrome 'leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'autosomal recessive disease' 'leukoencephalopathy-palmoplantar keratoderma syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0016540 congenital secondary polycythemia 'congenital secondary polycythemia' SubClassOf 'secondary polycythemia' 'congenital secondary polycythemia' SubClassOf 'secondary polycythemia' http://purl.obolibrary.org/obo/MONDO_0016541 acquired secondary polycythemia 'acquired secondary polycythemia' SubClassOf 'secondary polycythemia' 'acquired secondary polycythemia' SubClassOf 'secondary polycythemia' http://purl.obolibrary.org/obo/MONDO_0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'inborn error of immunity' 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'inflammatory bowel disease' 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'rheumatic disease' 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'inborn error of immunity' 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'inflammatory bowel disease' 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0016558 familial congenital mirror movements 'familial congenital mirror movements' SubClassOf 'movement disorder' 'familial congenital mirror movements' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea 'glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'hereditary glaucoma' 'glaucoma secondary to spherophakia/ectopia lentis and megalocornea' SubClassOf 'hereditary glaucoma' http://purl.obolibrary.org/obo/MONDO_0016557 leukonychia totalis 'leukonychia totalis' SubClassOf 'inherited isolated nail anomaly' 'leukonychia totalis' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form 'congenital primary megaureter, obstructed form' SubClassOf 'congenital primary megaureter' 'congenital primary megaureter, obstructed form' SubClassOf 'congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form 'congenital primary megaureter, refluxing form' SubClassOf 'congenital primary megaureter' 'congenital primary megaureter, refluxing form' SubClassOf 'congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0016552 congenital primary megaureter, nonrefluxing and unobstructed form 'congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'congenital primary megaureter' 'congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0016553 isolated congenital hypogonadotropic hypogonadism 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'congenital hypogonadotropic hypogonadism' 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0016568 Lowe-Kohn-Cohen syndrome 'Lowe-Kohn-Cohen syndrome' SubClassOf 'syndromic disease' 'Lowe-Kohn-Cohen syndrome' SubClassOf 'disorder of development or morphogenesis' 'Lowe-Kohn-Cohen syndrome' SubClassOf 'syndromic disease' 'Lowe-Kohn-Cohen syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016561 1q44 microdeletion syndrome '1q44 microdeletion syndrome' SubClassOf 'chromosome 1q deletion' '1q44 microdeletion syndrome' SubClassOf 'chromosome 1q deletion' http://purl.obolibrary.org/obo/MONDO_0016562 progressive supranuclear palsy-pure akinesia with gait freezing syndrome 'progressive supranuclear palsy-pure akinesia with gait freezing syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' 'progressive supranuclear palsy-pure akinesia with gait freezing syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' http://purl.obolibrary.org/obo/MONDO_0016563 progressive supranuclear palsy-corticobasal syndrome 'progressive supranuclear palsy-corticobasal syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' 'progressive supranuclear palsy-corticobasal syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' http://purl.obolibrary.org/obo/MONDO_0016564 progressive supranuclear palsy-progressive non-fluent aphasia syndrome 'progressive supranuclear palsy-progressive non-fluent aphasia syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' 'progressive supranuclear palsy-progressive non-fluent aphasia syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' http://purl.obolibrary.org/obo/MONDO_0016560 ptosis-syndactyly-learning difficulties syndrome 'ptosis-syndactyly-learning difficulties syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ptosis-syndactyly-learning difficulties syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016576 split hand-foot malformation 'split hand-foot malformation' SubClassOf 'dysostosis' 'split hand-foot malformation' SubClassOf 'genetic disorder' 'split hand-foot malformation' SubClassOf 'dysostosis' 'split hand-foot malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016572 central bilateral macrogyria 'central bilateral macrogyria' SubClassOf 'cerebral cortical dysplasia' 'central bilateral macrogyria' SubClassOf 'cerebral cortical dysplasia' http://purl.obolibrary.org/obo/MONDO_0016574 hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome 'hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome' SubClassOf 'skin pigmentation disorder' 'hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome' SubClassOf 'skin pigmentation disorder' http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia 'primary ciliary dyskinesia' SubClassOf 'respiratory system disease' 'primary ciliary dyskinesia' SubClassOf 'syndromic disease' 'primary ciliary dyskinesia' SubClassOf 'ciliopathy' 'primary ciliary dyskinesia' SubClassOf 'respiratory system disease' 'primary ciliary dyskinesia' SubClassOf 'syndromic disease' 'primary ciliary dyskinesia' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0016571 macrocephaly-short stature-paraplegia syndrome 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0016587 arrhythmogenic right ventricular cardiomyopathy 'arrhythmogenic right ventricular cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' 'arrhythmogenic right ventricular cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0016583 familial intestinal malrotation-facial anomalies syndrome 'familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'syndromic disease' 'familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'familial intestinal malrotation-facial anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia 'mandibuloacral dysplasia' SubClassOf 'hereditary lipodystrophy' 'mandibuloacral dysplasia' SubClassOf 'primary osteolysis' 'mandibuloacral dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'mandibuloacral dysplasia' SubClassOf 'hereditary lipodystrophy' 'mandibuloacral dysplasia' SubClassOf 'primary osteolysis' 'mandibuloacral dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016586 systemic mastocytosis 'systemic mastocytosis' SubClassOf 'Mastocytosis' 'systemic mastocytosis' SubClassOf 'Mastocytosis' http://purl.obolibrary.org/obo/MONDO_0016581 conotruncal heart malformations 'conotruncal heart malformations' SubClassOf 'congenital heart malformation' 'conotruncal heart malformations' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0016598 autosomal recessive secondary polycythemia not associated with VHL gene 'autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'congenital secondary polycythemia' 'autosomal recessive secondary polycythemia not associated with VHL gene' SubClassOf 'congenital secondary polycythemia' http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://purl.obolibrary.org/obo/MONDO_0016593 acquired ataxia 'acquired ataxia' SubClassOf 'atactic disorder' 'acquired ataxia' SubClassOf 'atactic disorder' http://purl.obolibrary.org/obo/MONDO_0100390 acute myeloid leukemia, der12p 'acute myeloid leukemia, der12p' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, der12p' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100391 acute myeloid leukemia, t(2;12) 'acute myeloid leukemia, t(2;12)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(2;12)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100392 acute myeloid leukemia, t(11;17) 'acute myeloid leukemia, t(11;17)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(11;17)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100393 acute myeloid leukemia, t(8;16) 'acute myeloid leukemia, t(8;16)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(8;16)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100394 acute myeloid leukemia, t(1;22) 'acute myeloid leukemia, t(1;22)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(1;22)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100395 acute myeloid leukemia, t(5;11)(q35;p15) 'acute myeloid leukemia, t(5;11)(q35;p15)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(5;11)(q35;p15)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100396 acute myeloid leukemia, t(7;12)(q36;p13) 'acute myeloid leukemia, t(7;12)(q36;p13)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(7;12)(q36;p13)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100397 acute myeloid leukemia, t(9;22)(q34.1;q11.2) 'acute myeloid leukemia, t(9;22)(q34.1;q11.2)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(9;22)(q34.1;q11.2)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100398 acute myeloid leukemia, inv(3)(q21.3;q26.2) 'acute myeloid leukemia, inv(3)(q21.3;q26.2)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, inv(3)(q21.3;q26.2)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100399 acute myeloid leukemia, t(3;3)(q21.3;q26.2) 'acute myeloid leukemia, t(3;3)(q21.3;q26.2)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(3;3)(q21.3;q26.2)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100370 acute hepatitis B virus infection 'acute hepatitis B virus infection' SubClassOf 'hepatitis B virus infection' 'acute hepatitis B virus infection' SubClassOf 'hepatitis B virus infection' http://purl.obolibrary.org/obo/MONDO_0100372 disorder of peroxisomal transporter 'disorder of peroxisomal transporter' SubClassOf 'disease disrupts' some 'peroxisomal transport' 'disorder of peroxisomal transporter' SubClassOf 'peroxisomal single enzyme/protein defect' 'disorder of peroxisomal transporter' SubClassOf 'disease disrupts' some 'peroxisomal transport' 'disorder of peroxisomal transporter' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0100373 acute myeloid leukemia, inv(16)(p13.1;q22) 'acute myeloid leukemia, inv(16)(p13.1;q22)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, inv(16)(p13.1;q22)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100374 acute myeloid leukemia, t(16;16)(p13.1;q22) 'acute myeloid leukemia, t(16;16)(p13.1;q22)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(16;16)(p13.1;q22)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100375 acute myeloid leukemia, t(15;17)(q24;q21) 'acute myeloid leukemia, t(15;17)(q24;q21)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(15;17)(q24;q21)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100376 acute myeloid leukemia, t(9;11)(p21.3;q23.3) 'acute myeloid leukemia, t(9;11)(p21.3;q23.3)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(9;11)(p21.3;q23.3)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100377 acute myeloid leukemia, t(10;11)(p12;q23) 'acute myeloid leukemia, t(10;11)(p12;q23)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p12;q23)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100378 acute myeloid leukemia, t(10;11)(p11.2;q23) 'acute myeloid leukemia, t(10;11)(p11.2;q23)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(10;11)(p11.2;q23)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100379 acute myeloid leukemia, t(1;11)(q21;q23) 'acute myeloid leukemia, t(1;11)(q21;q23)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(1;11)(q21;q23)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100380 acute myeloid leukemia, t(4;11)(q21;q23) 'acute myeloid leukemia, t(4;11)(q21;q23)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(4;11)(q21;q23)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100381 acute myeloid leukemia, t(6;11)(q27;q23) 'acute myeloid leukemia, t(6;11)(q27;q23)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(6;11)(q27;q23)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100383 acute myeloid leukemia, t(11;19)(q23;p13) 'acute myeloid leukemia, t(11;19)(q23;p13)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23;p13)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100384 acute myeloid leukemia, t(11;19)(q23;p13.1) 'acute myeloid leukemia, t(11;19)(q23;p13.1)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23;p13.1)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100385 acute myeloid leukemia, t(11;19)(q23.3;p13.3) 'acute myeloid leukemia, t(11;19)(q23.3;p13.3)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(11;19)(q23.3;p13.3)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100386 acute myeloid leukemia, t(v;11q23.3) 'acute myeloid leukemia, t(v;11q23.3)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(v;11q23.3)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100387 acute myeloid leukemia, Monosomy 7 'acute myeloid leukemia, Monosomy 7' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, Monosomy 7' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100388 acute myeloid leukemia, Monosomy 5 'acute myeloid leukemia, Monosomy 5' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, Monosomy 5' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100389 acute myeloid leukemia, Trisomy 8 'acute myeloid leukemia, Trisomy 8' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, Trisomy 8' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100350 neuronopathy, distal hereditary motor, type 5 'neuronopathy, distal hereditary motor, type 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'neuronopathy, distal hereditary motor, type 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0100352 episodic kinesigenic dyskinesia 1 'episodic kinesigenic dyskinesia 1' SubClassOf 'episodic kinesigenic dyskinesia' 'episodic kinesigenic dyskinesia 1' SubClassOf 'PRRT2-associated paroxysmal movement disorder' 'episodic kinesigenic dyskinesia 1' SubClassOf 'episodic kinesigenic dyskinesia' 'episodic kinesigenic dyskinesia 1' SubClassOf 'PRRT2-associated paroxysmal movement disorder' http://purl.obolibrary.org/obo/MONDO_0100353 HHV-7 infectious disease 'HHV-7 infectious disease' SubClassOf 'Roseolovirus infectious disease' 'HHV-7 infectious disease' SubClassOf 'Roseolovirus infectious disease' http://purl.obolibrary.org/obo/MONDO_0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 'megacystis-microcolon-intestinal hypoperistalsis syndrome 1' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' 'megacystis-microcolon-intestinal hypoperistalsis syndrome 1' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' http://purl.obolibrary.org/obo/MONDO_0100355 classic or non-classic genetic disease presentation 'classic or non-classic genetic disease presentation' SubClassOf 'disease characteristic' 'classic or non-classic genetic disease presentation' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0100356 classic presentation 'classic presentation' SubClassOf 'classic or non-classic genetic disease presentation' 'classic presentation' SubClassOf 'classic or non-classic genetic disease presentation' http://purl.obolibrary.org/obo/MONDO_0100357 non-classic presentation 'non-classic presentation' SubClassOf 'classic or non-classic genetic disease presentation' 'non-classic presentation' SubClassOf 'classic or non-classic genetic disease presentation' http://purl.obolibrary.org/obo/MONDO_0100358 ectodermal dysplasia WNT10A related 'ectodermal dysplasia WNT10A related' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia WNT10A related' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0100365 mucopolysaccharidosis or mucopolysaccharidosis-like disorder 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' SubClassOf 'inborn errors of metabolism' 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0100368 RPE65-related recessive retinopathy 'RPE65-related recessive retinopathy' SubClassOf 'inherited retinal dystrophy' 'RPE65-related recessive retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100369 iatrogenic or non-iatrogenic 'iatrogenic or non-iatrogenic' SubClassOf 'disease characteristic' 'iatrogenic or non-iatrogenic' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0100451 CEP290-related ciliopathy 'CEP290-related ciliopathy' SubClassOf 'ciliopathy' 'CEP290-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0100453 GUCY2D-related recessive retinopathy 'GUCY2D-related recessive retinopathy' SubClassOf 'GUCY2D retinopathy' 'GUCY2D-related recessive retinopathy' SubClassOf 'GUCY2D retinopathy' http://purl.obolibrary.org/obo/MONDO_0100454 GUCY2D retinopathy 'GUCY2D retinopathy' SubClassOf 'inherited retinal dystrophy' 'GUCY2D retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100455 neonatal-onset developmental and epileptic encephalopathy 'neonatal-onset developmental and epileptic encephalopathy' SubClassOf 'developmental and epileptic encephalopathy' 'neonatal-onset developmental and epileptic encephalopathy' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0100464 acid sphingomyelinase deficiency 'acid sphingomyelinase deficiency' SubClassOf 'Niemann-Pick disease' 'acid sphingomyelinase deficiency' SubClassOf 'Niemann-Pick disease' http://purl.obolibrary.org/obo/MONDO_0100431 migraine without aura 'migraine without aura' SubClassOf 'migraine disorder' 'migraine without aura' SubClassOf 'migraine disorder' http://purl.obolibrary.org/obo/MONDO_0100433 ACTB-associated syndromic thrombocytopenia 'ACTB-associated syndromic thrombocytopenia' SubClassOf 'syndromic constitutional thrombocytopenia' 'ACTB-associated syndromic thrombocytopenia' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0100437 RPGR-related retinopathy 'RPGR-related retinopathy' SubClassOf 'inherited retinal dystrophy' 'RPGR-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100440 Asperger syndrome, susceptibility to 'Asperger syndrome, susceptibility to' SubClassOf 'inherited disease susceptibility' 'Asperger syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'Asperger syndrome' 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Asperger syndrome') 'Asperger syndrome, susceptibility to' SubClassOf 'inherited disease susceptibility' 'Asperger syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Asperger syndrome' 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Asperger syndrome') http://purl.obolibrary.org/obo/MONDO_0100441 GUCY2D-related dominant retinopathy 'GUCY2D-related dominant retinopathy' SubClassOf 'GUCY2D retinopathy' 'GUCY2D-related dominant retinopathy' SubClassOf 'GUCY2D retinopathy' http://purl.obolibrary.org/obo/MONDO_0100443 RDH5-related retinopathy 'RDH5-related retinopathy' SubClassOf 'inherited retinal dystrophy' 'RDH5-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100444 RLBP1-related retinopathy 'RLBP1-related retinopathy' SubClassOf 'inherited retinal dystrophy' 'RLBP1-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100449 FLVCR1-related retinopathy with or without ataxia 'FLVCR1-related retinopathy with or without ataxia' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'FLVCR1-related retinopathy with or without ataxia' SubClassOf 'inherited retinal dystrophy' 'FLVCR1-related retinopathy with or without ataxia' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'FLVCR1-related retinopathy with or without ataxia' SubClassOf 'inherited retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_0005622 Crohn's colitis 'Crohn's colitis' SubClassOf 'Crohn's disease' 'Crohn's colitis' SubClassOf 'Crohn's disease' http://www.ebi.ac.uk/efo/EFO_0005623 distal colitis 'distal colitis' SubClassOf 'ulcerative colitis' 'distal colitis' SubClassOf 'ulcerative colitis' http://purl.obolibrary.org/obo/MONDO_0100410 acute myeloid leukemia, t(16;21)(p11;q22) 'acute myeloid leukemia, t(16;21)(p11;q22)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(16;21)(p11;q22)' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005626 pancolitis 'pancolitis' SubClassOf 'ulcerative colitis' 'pancolitis' SubClassOf 'ulcerative colitis' http://purl.obolibrary.org/obo/MONDO_0100412 acute myeloid leukemia, monoallelic CEBPA gene mutation 'acute myeloid leukemia, monoallelic CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, monoallelic CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005627 perianal Crohn's disease 'perianal Crohn's disease' SubClassOf 'Crohn's disease' 'perianal Crohn's disease' SubClassOf 'disease has location' some 'anal region' 'perianal Crohn's disease' SubClassOf 'Crohn's disease' 'perianal Crohn's disease' SubClassOf 'disease has location' some 'anal region' http://purl.obolibrary.org/obo/MONDO_0100413 acute myeloid leukemia, biallelic CEBPA gene mutation 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005624 ileocolitis 'ileocolitis' SubClassOf 'disease has location' some 'ileum' 'ileocolitis' SubClassOf 'disease has location' some 'ileum' http://purl.obolibrary.org/obo/MONDO_0100414 acute myeloid leukemia, CEBPA gene mutation 'acute myeloid leukemia, CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005625 oral Crohn's disease 'oral Crohn's disease' SubClassOf 'Crohn's disease' 'oral Crohn's disease' SubClassOf 'Crohn's disease' http://purl.obolibrary.org/obo/MONDO_0100415 acute myeloid leukemia, FLT3 internal tandem duplication 'acute myeloid leukemia, FLT3 internal tandem duplication' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, FLT3 internal tandem duplication' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100416 acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation 'acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, FLT3 tyrosine kinase domain point mutation' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005628 proctitis 'proctitis' SubClassOf 'inflammatory bowel disease' 'proctitis' SubClassOf 'anus disease' 'proctitis' SubClassOf 'inflammatory disease' 'proctitis' SubClassOf 'inflammatory bowel disease' 'proctitis' SubClassOf 'anus disease' 'proctitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0100417 acute myeloid leukemia, WT1 gene mutation 'acute myeloid leukemia, WT1 gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, WT1 gene mutation' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005629 small bowel Crohn's disease 'small bowel Crohn's disease' SubClassOf 'Crohn's disease' 'small bowel Crohn's disease' SubClassOf 'Crohn's disease' http://purl.obolibrary.org/obo/MONDO_0100418 acute myeloid leukemia, KIT exon 17 mutation 'acute myeloid leukemia, KIT exon 17 mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, KIT exon 17 mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100419 acute myeloid leukemia, KIT exon 8 mutation 'acute myeloid leukemia, KIT exon 8 mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, KIT exon 8 mutation' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005611 opioid dependence 'opioid dependence' SubClassOf 'drug dependence' 'opioid dependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0005612 morphine dependence 'morphine dependence' SubClassOf 'opioid dependence' 'morphine dependence' SubClassOf 'opioid dependence' http://purl.obolibrary.org/obo/MONDO_0100420 acute myeloid leukemia, KIT gene mutation 'acute myeloid leukemia, KIT gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, KIT gene mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100421 acute myeloid leukemia, GATA1 gene mutation 'acute myeloid leukemia, GATA1 gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, GATA1 gene mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100422 acute myeloid leukemia, RUNX1 gene mutation 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100423 acute myeloid leukemia, PTPN11 gene mutation 'acute myeloid leukemia, PTPN11 gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, PTPN11 gene mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100424 acute myeloid leukemia, NRAS gene mutation 'acute myeloid leukemia, NRAS gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, NRAS gene mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100425 acute myeloid leukemia, KRAS gene mutation 'acute myeloid leukemia, KRAS gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, KRAS gene mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100426 iatrogenic 'iatrogenic' SubClassOf 'iatrogenic or non-iatrogenic' 'iatrogenic' SubClassOf 'iatrogenic or non-iatrogenic' http://purl.obolibrary.org/obo/MONDO_0100428 progressive bulbar palsy of childhood 'progressive bulbar palsy of childhood' SubClassOf 'progressive bulbar palsy' 'progressive bulbar palsy of childhood' SubClassOf 'progressive bulbar palsy' http://www.ebi.ac.uk/efo/EFO_0005649 spondylolysis 'spondylolysis' SubClassOf 'disease of bone structure' 'spondylolysis' SubClassOf 'disease of bone structure' http://www.ebi.ac.uk/efo/EFO_0005631 rectal adenocarcinoma 'rectal adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'rectal adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0100400 acute myeloid leukemia, t(3;12)(q23;p12.3) 'acute myeloid leukemia, t(3;12)(q23;p12.3)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(3;12)(q23;p12.3)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100401 acute myeloid leukemia, del(5q31-q32) 'acute myeloid leukemia, del(5q31-q32)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, del(5q31-q32)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100402 acute myeloid leukemia, del(13q14-q21) 'acute myeloid leukemia, del(13q14-q21)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, del(13q14-q21)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100403 acute myeloid leukemia, loss of chromosome 17p 'acute myeloid leukemia, loss of chromosome 17p' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, loss of chromosome 17p' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100404 acute myeloid leukemia, MLL gene rearrangement 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100405 acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive 'acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100406 acute myeloid leukemia, inv(16)(p13.3;q24.3) 'acute myeloid leukemia, inv(16)(p13.3;q24.3)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, inv(16)(p13.3;q24.3)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100407 acute myeloid leukemia, t(11;15)(p15;q35) 'acute myeloid leukemia, t(11;15)(p15;q35)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(11;15)(p15;q35)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100408 acute myeloid leukemia, t(16;21)(q24;q22) 'acute myeloid leukemia, t(16;21)(q24;q22)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(16;21)(q24;q22)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100409 acute myeloid leukemia, t(3;5)(q25;q34) 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005681 Staphylococcus aureus infection 'Staphylococcus aureus infection' SubClassOf 'staphylococcal skin infections' 'Staphylococcus aureus infection' SubClassOf 'staphylococcal skin infections' http://www.ebi.ac.uk/efo/EFO_0005687 fibromyalgia 'fibromyalgia' SubClassOf 'idiopathic disease' 'fibromyalgia' SubClassOf 'syndromic disease' 'fibromyalgia' SubClassOf 'chronic pain syndrome' 'fibromyalgia' SubClassOf 'idiopathic disease' 'fibromyalgia' SubClassOf 'syndromic disease' 'fibromyalgia' SubClassOf 'chronic pain syndrome' http://www.ebi.ac.uk/efo/EFO_0005672 acute coronary syndrome 'acute coronary syndrome' SubClassOf 'Myocardial Ischemia' 'acute coronary syndrome' SubClassOf 'syndromic disease' 'acute coronary syndrome' SubClassOf 'disease has location' some 'heart' 'acute coronary syndrome' SubClassOf 'Myocardial Ischemia' 'acute coronary syndrome' SubClassOf 'syndromic disease' 'acute coronary syndrome' SubClassOf 'disease has location' some 'heart' http://www.ebi.ac.uk/efo/EFO_0005676 Autoimmune Hepatitis 'Autoimmune Hepatitis' SubClassOf 'autoimmune disorder of gastrointestinal tract' 'Autoimmune Hepatitis' SubClassOf 'autoimmune disorder of gastrointestinal tract' http://purl.obolibrary.org/obo/MONDO_0016607 odontohypophosphatasia 'odontohypophosphatasia' SubClassOf 'hypophosphatasia' 'odontohypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0016608 megalencephaly 'megalencephaly' SubClassOf 'brain disease' 'megalencephaly' SubClassOf 'disorder of development or morphogenesis' 'megalencephaly' SubClassOf 'brain disease' 'megalencephaly' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016602 citrin deficiency 'citrin deficiency' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'citrin deficiency' SubClassOf 'citrullinemia' 'citrin deficiency' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'citrin deficiency' SubClassOf 'citrullinemia' http://purl.obolibrary.org/obo/MONDO_0016603 citrullinemia type II 'citrullinemia type II' SubClassOf 'citrin deficiency' 'citrullinemia type II' SubClassOf 'citrin deficiency' http://purl.obolibrary.org/obo/MONDO_0016604 dysraphism-cleft lip/palate-limb reduction defects syndrome 'dysraphism-cleft lip/palate-limb reduction defects syndrome' SubClassOf 'genetic disorder' 'dysraphism-cleft lip/palate-limb reduction defects syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016605 perinatal lethal hypophosphatasia 'perinatal lethal hypophosphatasia' SubClassOf 'hypophosphatasia' 'perinatal lethal hypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0016600 acute neonatal citrullinemia type I 'acute neonatal citrullinemia type I' SubClassOf 'citrullinemia type I' 'acute neonatal citrullinemia type I' SubClassOf 'citrullinemia type I' http://purl.obolibrary.org/obo/MONDO_0016601 adult-onset citrullinemia type I 'adult-onset citrullinemia type I' SubClassOf 'citrullinemia type I' 'adult-onset citrullinemia type I' SubClassOf 'citrullinemia type I' http://purl.obolibrary.org/obo/MONDO_0016619 autosomal recessive hypohidrotic ectodermal dysplasia 'autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' 'autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016614 autosomal recessive ataxia due to PEX10 deficiency 'autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'autosomal recessive ataxia due to PEX10 deficiency' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0016611 lipoblastoma 'lipoblastoma' SubClassOf 'benign lipomatous neoplasm' 'lipoblastoma' SubClassOf 'benign lipomatous neoplasm' http://purl.obolibrary.org/obo/MONDO_0016408 permanent congenital hypothyroidism 'permanent congenital hypothyroidism' SubClassOf 'hereditary endocrine growth disease' 'permanent congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' 'permanent congenital hypothyroidism' SubClassOf 'hereditary endocrine growth disease' 'permanent congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma 'hereditary breast carcinoma' SubClassOf 'genetic disorder' 'hereditary breast carcinoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome 'congenital ichthyosis-microcephalus-tetraplegia syndrome' SubClassOf 'syndromic disease' 'congenital ichthyosis-microcephalus-tetraplegia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016418 multiple system atrophy, cerebellar type 'multiple system atrophy, cerebellar type' SubClassOf 'multiple system atrophy' 'multiple system atrophy, cerebellar type' SubClassOf 'multiple system atrophy' http://purl.obolibrary.org/obo/MONDO_0016411 hypothyroidism due to deficient transcription factors involved in pituitary development or function 'hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'central congenital hypothyroidism' 'hypothyroidism due to deficient transcription factors involved in pituitary development or function' SubClassOf 'central congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016412 peripheral hypothyroidism 'peripheral hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' 'peripheral hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016414 hypotrichosis-intellectual disability, Lopes type 'hypotrichosis-intellectual disability, Lopes type' SubClassOf 'syndromic disease' 'hypotrichosis-intellectual disability, Lopes type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016410 central congenital hypothyroidism 'central congenital hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' 'central congenital hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'hypertrophic cardiomyopathy' 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0016420 familial flecked retinopathy 'familial flecked retinopathy' SubClassOf 'hereditary macular dystrophy' 'familial flecked retinopathy' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome 'dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'dysmorphism-short stature-deafness-disorder of sex development syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M 'autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'autosomal dominant Charcot-Marie-Tooth disease type 2M' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0016432 heart-hand syndrome 'heart-hand syndrome' SubClassOf 'syndromic disease' 'heart-hand syndrome' SubClassOf 'congenital limb malformation' 'heart-hand syndrome' SubClassOf 'dysostosis' 'heart-hand syndrome' SubClassOf 'genetic disorder' 'heart-hand syndrome' SubClassOf 'syndromic disease' 'heart-hand syndrome' SubClassOf 'congenital limb malformation' 'heart-hand syndrome' SubClassOf 'dysostosis' 'heart-hand syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016445 familial anetoderma 'familial anetoderma' SubClassOf 'dermis disorder' 'familial anetoderma' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0016446 acquired cutis laxa 'acquired cutis laxa' SubClassOf 'cutis laxa' 'acquired cutis laxa' SubClassOf 'cutis laxa' http://purl.obolibrary.org/obo/MONDO_0016459 2q23.1 microdeletion syndrome '2q23.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' '2q23.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0016456 5q14.3 microdeletion syndrome '5q14.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 5' '5q14.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '5q14.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 5' '5q14.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 'ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome' SubClassOf 'syndromic disease' 'ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016458 8q12 microduplication syndrome '8q12 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 8' '8q12 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0016454 Charcot-Marie-Tooth disease type 2B5 'Charcot-Marie-Tooth disease type 2B5' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2B5' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0016450 autoimmune hemolytic anemia, cold type 'autoimmune hemolytic anemia, cold type' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'autoimmune hemolytic anemia, cold type' SubClassOf 'Anemia, Hemolytic, Autoimmune' http://purl.obolibrary.org/obo/MONDO_0100290 colon serrated polyposis 'colon serrated polyposis' SubClassOf 'polyp of colon' 'colon serrated polyposis' SubClassOf 'hyperplastic polyposis syndrome' 'colon serrated polyposis' SubClassOf 'polyp of colon' 'colon serrated polyposis' SubClassOf 'hyperplastic polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0100291 early T cell progenitor acute lymphoblastic leukemia 'early T cell progenitor acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' 'early T cell progenitor acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0100294 mitochondrial complex II deficiency, nuclear type 1 'mitochondrial complex II deficiency, nuclear type 1' SubClassOf 'mitochondrial complex II deficiency, nuclear type' 'mitochondrial complex II deficiency, nuclear type 1' SubClassOf 'mitochondrial complex II deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0100296 Olmsted syndrome 1 'Olmsted syndrome 1' SubClassOf 'Olmsted syndrome' 'Olmsted syndrome 1' SubClassOf 'Olmsted syndrome' http://purl.obolibrary.org/obo/MONDO_0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1' SubClassOf 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1' SubClassOf 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' http://purl.obolibrary.org/obo/MONDO_0100298 abdominal wall malformation 'abdominal wall malformation' SubClassOf 'developmental defect during embryogenesis' 'abdominal wall malformation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0016468 toxin-mediated infectious botulism 'toxin-mediated infectious botulism' SubClassOf 'botulism' 'toxin-mediated infectious botulism' SubClassOf 'botulism' http://purl.obolibrary.org/obo/MONDO_0016469 Ehlers-Danlos syndrome, vascular-like type 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'vascular disease' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'vascular disease' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0016462 isolated agammaglobulinemia 'isolated agammaglobulinemia' SubClassOf 'agammaglobulinemia' 'isolated agammaglobulinemia' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0016463 syndromic agammaglobulinemia 'syndromic agammaglobulinemia' SubClassOf 'syndromic disease' 'syndromic agammaglobulinemia' SubClassOf 'agammaglobulinemia' 'syndromic agammaglobulinemia' SubClassOf 'syndromic disease' 'syndromic agammaglobulinemia' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0016464 insulin-resistance syndrome type B 'insulin-resistance syndrome type B' SubClassOf 'endocrine pancreas disorder' 'insulin-resistance syndrome type B' SubClassOf 'endocrine pancreas disorder' http://purl.obolibrary.org/obo/MONDO_0016460 polyvalvular heart disease syndrome 'polyvalvular heart disease syndrome' SubClassOf 'heart disease' 'polyvalvular heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'polyvalvular heart disease syndrome' SubClassOf 'heart disease' 'polyvalvular heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0016461 5q35 microduplication syndrome '5q35 microduplication syndrome' SubClassOf 'partial trisomy of the long arm of chromosome 5' '5q35 microduplication syndrome' SubClassOf 'partial trisomy of the long arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0016477 Beckwith-Wiedemann syndrome due to 11p15 microdeletion 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'partial deletion of the short arm of chromosome 11' 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'partial deletion of the short arm of chromosome 11' 'Beckwith-Wiedemann syndrome due to 11p15 microdeletion' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0016478 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0016479 silver-Russell syndrome due to 7p11.2p13 microduplication 'silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'partial duplication of the short arm of chromosome 7' 'silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Silver-Russell syndrome' 'silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'partial duplication of the short arm of chromosome 7' 'silver-Russell syndrome due to 7p11.2p13 microduplication' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0041447 metastatic malignant neoplasm in the colon 'metastatic malignant neoplasm in the colon' SubClassOf 'metastatic malignant neoplasm' 'metastatic malignant neoplasm in the colon' SubClassOf 'metastatic malignant neoplasm' http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor 'familial rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' 'familial rhabdoid tumor' SubClassOf 'hereditary neoplastic syndrome' 'familial rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' 'familial rhabdoid tumor' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0016474 drug-induced lupus erythematosus 'drug-induced lupus erythematosus' SubClassOf 'lupus erythematosus' 'drug-induced lupus erythematosus' SubClassOf 'lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0016475 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to imprinting defect of 11p15' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0016476 Beckwith-Wiedemann syndrome due to CDKN1C mutation 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to CDKN1C mutation' SubClassOf 'Beckwith-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0016471 pachyonychia congenita 'pachyonychia congenita' SubClassOf 'focal palmoplantar keratoderma' 'pachyonychia congenita' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0100270 peroxisome biogenesis disorder due to PEX19 defect 'peroxisome biogenesis disorder due to PEX19 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX19 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0016490 hemoglobin C-beta-thalassemia syndrome 'hemoglobin C-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' 'hemoglobin C-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0100271 peroxisome biogenesis disorder due to PEX26 defect 'peroxisome biogenesis disorder due to PEX26 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX26 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100272 peroxisome biogenesis disorder due to PEX7 defect 'peroxisome biogenesis disorder due to PEX7 defect' SubClassOf 'non-Zellweger spectrum disorder' 'peroxisome biogenesis disorder due to PEX7 defect' SubClassOf 'non-Zellweger spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0100273 glyceronephosphate O-acyltransferase deficiency 'glyceronephosphate O-acyltransferase deficiency' SubClassOf 'disorder of plasmalogens biosynthesis' 'glyceronephosphate O-acyltransferase deficiency' SubClassOf 'disorder of plasmalogens biosynthesis' http://purl.obolibrary.org/obo/MONDO_0100274 alkylglycerone-phosphate synthase deficiency 'alkylglycerone-phosphate synthase deficiency' SubClassOf 'disorder of plasmalogens biosynthesis' 'alkylglycerone-phosphate synthase deficiency' SubClassOf 'disorder of plasmalogens biosynthesis' http://purl.obolibrary.org/obo/MONDO_0100275 fatty acyl-CoA reductase defects 'fatty acyl-CoA reductase defects' SubClassOf 'disorder of plasmalogens biosynthesis' 'fatty acyl-CoA reductase defects' SubClassOf 'disorder of plasmalogens biosynthesis' http://purl.obolibrary.org/obo/MONDO_0100276 disorder of defective peroxisomal and mitochondrial fission 'disorder of defective peroxisomal and mitochondrial fission' SubClassOf 'peroxisomal disease' 'disorder of defective peroxisomal and mitochondrial fission' SubClassOf 'peroxisomal disease' http://purl.obolibrary.org/obo/MONDO_0100277 disorder of peroxisomal alpha oxidation 'disorder of peroxisomal alpha oxidation' SubClassOf 'peroxisomal single enzyme/protein defect' 'disorder of peroxisomal alpha oxidation' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0100278 alanine glyoxylate aminotransferase deficiency 'alanine glyoxylate aminotransferase deficiency' SubClassOf 'disorder of glyoxylate metabolism' 'alanine glyoxylate aminotransferase deficiency' SubClassOf 'disorder of glyoxylate metabolism' http://purl.obolibrary.org/obo/MONDO_0100279 peroxisome biogenesis disorder due to PEX11B defect 'peroxisome biogenesis disorder due to PEX11B defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX11B defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0016489 delta-beta-thalassemia 'delta-beta-thalassemia' SubClassOf 'beta-thalassemia and related diseases' 'delta-beta-thalassemia' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0016484 Usher syndrome type 2 'Usher syndrome type 2' SubClassOf 'Usher syndrome' 'Usher syndrome type 2' SubClassOf 'Usher syndrome' http://purl.obolibrary.org/obo/MONDO_0016485 Usher syndrome type 3 'Usher syndrome type 3' SubClassOf 'Usher syndrome' 'Usher syndrome type 3' SubClassOf 'Usher syndrome' http://purl.obolibrary.org/obo/MONDO_0016480 silver-Russell syndrome due to an imprinting defect of 11p15 'silver-Russell syndrome due to an imprinting defect of 11p15' SubClassOf 'Silver-Russell syndrome' 'silver-Russell syndrome due to an imprinting defect of 11p15' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0016481 silver-Russell syndrome due to 11p15 microduplication 'silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'partial duplication of the short arm of chromosome 11' 'silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Silver-Russell syndrome' 'silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'partial duplication of the short arm of chromosome 11' 'silver-Russell syndrome due to 11p15 microduplication' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0016482 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Silver-Russell syndrome' 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'uniparental disomy' 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'Silver-Russell syndrome' 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 11' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0016483 intracranial berry aneurysm 'intracranial berry aneurysm' SubClassOf 'brain aneurysm' 'intracranial berry aneurysm' SubClassOf 'brain aneurysm' http://purl.obolibrary.org/obo/MONDO_0100283 overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' SubClassOf 'central nervous system malformation' 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0100286 respiratory syncytial virus bronchiolitis 'respiratory syncytial virus bronchiolitis' SubClassOf 'bronchiolitis' 'respiratory syncytial virus bronchiolitis' SubClassOf 'bronchiolitis' http://purl.obolibrary.org/obo/MONDO_0100288 enhanced S-cone syndrome 'enhanced S-cone syndrome' SubClassOf 'vitreoretinal degeneration' 'enhanced S-cone syndrome' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0100289 Goldmann-Favre syndrome 'Goldmann-Favre syndrome' SubClassOf 'vitreoretinal degeneration' 'Goldmann-Favre syndrome' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0016491 hemoglobin E-beta-thalassemia syndrome 'hemoglobin E-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' 'hemoglobin E-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0100250 46,XX sex reversal 1 '46,XX sex reversal 1' SubClassOf '46,XX testicular disorder of sex development' '46,XX sex reversal 1' SubClassOf '46,XX testicular disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0100253 Roberts-SC phocomelia syndrome 'Roberts-SC phocomelia syndrome' SubClassOf 'syndromic disease' 'Roberts-SC phocomelia syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Roberts-SC phocomelia syndrome' SubClassOf 'autosomal recessive disease' 'Roberts-SC phocomelia syndrome' SubClassOf 'syndromic disease' 'Roberts-SC phocomelia syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Roberts-SC phocomelia syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0100254 CACNA1A-related complex neurodevelopmental disorder 'CACNA1A-related complex neurodevelopmental disorder' SubClassOf 'complex neurodevelopmental disorder with motor features' 'CACNA1A-related complex neurodevelopmental disorder' SubClassOf 'complex neurodevelopmental disorder with motor features' http://purl.obolibrary.org/obo/MONDO_0100255 adenosine kinase deficiency 'adenosine kinase deficiency' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'adenosine kinase deficiency' SubClassOf 'disorder of methionine catabolism' 'adenosine kinase deficiency' SubClassOf 'disorder of methionine catabolism' 'adenosine kinase deficiency' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100257 peroxisomal single enzyme/protein defect 'peroxisomal single enzyme/protein defect' SubClassOf 'peroxisomal disease' 'peroxisomal single enzyme/protein defect' SubClassOf 'peroxisomal disease' http://purl.obolibrary.org/obo/MONDO_0100258 phytanoyl-CoA hydroxylase deficiency 'phytanoyl-CoA hydroxylase deficiency' SubClassOf 'disorder of peroxisomal alpha oxidation' 'phytanoyl-CoA hydroxylase deficiency' SubClassOf 'disorder of peroxisomal alpha oxidation' http://purl.obolibrary.org/obo/MONDO_0100259 peroxisome biogenesis disorder due to PEX1 defect 'peroxisome biogenesis disorder due to PEX1 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX1 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100260 peroxisome biogenesis disorder due to PEX2 defect 'peroxisome biogenesis disorder due to PEX2 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX2 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100261 peroxisome biogenesis disorder due to PEX3 defect 'peroxisome biogenesis disorder due to PEX3 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX3 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100262 peroxisome biogenesis disorder due to PEX5 defect 'peroxisome biogenesis disorder due to PEX5 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX5 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100263 peroxisome biogenesis disorder due to PEX6 defect 'peroxisome biogenesis disorder due to PEX6 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX6 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100264 peroxisome biogenesis disorder due to PEX10 defect 'peroxisome biogenesis disorder due to PEX10 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX10 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100265 peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf 'rhizomelic chondrodysplasia punctata' 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf 'non-Zellweger spectrum disorder' 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf 'rhizomelic chondrodysplasia punctata' 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' SubClassOf 'non-Zellweger spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0100266 peroxisome biogenesis disorder due to PEX12 defect 'peroxisome biogenesis disorder due to PEX12 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX12 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100267 peroxisome biogenesis disorder due to PEX13 defect 'peroxisome biogenesis disorder due to PEX13 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX13 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100268 peroxisome biogenesis disorder due to PEX14 defect 'peroxisome biogenesis disorder due to PEX14 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX14 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100269 peroxisome biogenesis disorder due to PEX16 defect 'peroxisome biogenesis disorder due to PEX16 defect' SubClassOf 'Zellweger spectrum disorders' 'peroxisome biogenesis disorder due to PEX16 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100232 psoriatic arthritis, susceptibility to 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'psoriatic arthritis') 'psoriatic arthritis, susceptibility to' SubClassOf 'predisposes towards' some 'psoriatic arthritis' 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'psoriatic arthritis') 'psoriatic arthritis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'psoriatic arthritis' http://purl.obolibrary.org/obo/MONDO_0100234 paroxysmal familial ventricular fibrillation 'paroxysmal familial ventricular fibrillation' SubClassOf 'ventricular fibrillation' 'paroxysmal familial ventricular fibrillation' SubClassOf 'ventricular fibrillation' http://purl.obolibrary.org/obo/MONDO_0100236 LTBP2-related ocular dysgenesis 'LTBP2-related ocular dysgenesis' SubClassOf 'eye disease' 'LTBP2-related ocular dysgenesis' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0100237 inherited cutis laxa 'inherited cutis laxa' SubClassOf 'cutis laxa' 'inherited cutis laxa' SubClassOf 'cutis laxa' http://purl.obolibrary.org/obo/MONDO_0100238 inherited Fanconi renotubular syndrome 'inherited Fanconi renotubular syndrome' SubClassOf 'Fanconi renotubular syndrome' 'inherited Fanconi renotubular syndrome' SubClassOf 'Fanconi renotubular syndrome' http://purl.obolibrary.org/obo/MONDO_0100239 inherited hypertrophic pyloric stenosis 'inherited hypertrophic pyloric stenosis' SubClassOf 'infantile hypertrophic pyloric stenosis' 'inherited hypertrophic pyloric stenosis' SubClassOf 'infantile hypertrophic pyloric stenosis' http://purl.obolibrary.org/obo/MONDO_0100240 inherited thrombophilia 'inherited thrombophilia' SubClassOf 'thrombophilia' 'inherited thrombophilia' SubClassOf 'thrombophilia' http://purl.obolibrary.org/obo/MONDO_0100242 glioma susceptibility 'glioma susceptibility' SubClassOf 'predisposes towards' some 'malignant glioma' 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malignant glioma') 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant glioma') 'glioma susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'hemoglobinuria' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'disorder of GPI anchor biosynthesis' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'hemoglobinuria' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'disorder of GPI anchor biosynthesis' http://purl.obolibrary.org/obo/MONDO_0100246 migraine with or without aura, susceptibility to 'migraine with or without aura, susceptibility to' SubClassOf 'inherited disease susceptibility' 'migraine with or without aura, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100247 multiple congenital anomalies-hypotonia-seizures syndrome 'multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100249 46,XX testicular disorder of sex development '46,XX testicular disorder of sex development' SubClassOf '46,XX disorder of sex development' '46,XX testicular disorder of sex development' SubClassOf '46,XX disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0100330 disease arising from reactivation of latent virus 'disease arising from reactivation of latent virus' SubClassOf 'viral disease' 'disease arising from reactivation of latent virus' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0100337 SEC61A1 deficiency 'SEC61A1 deficiency' SubClassOf 'genetic disorder' 'SEC61A1 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100339 Friedreich ataxia 'Friedreich ataxia' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'Friedreich ataxia' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0100342 malignant glioma 'malignant glioma' SubClassOf 'glioma' 'malignant glioma' SubClassOf 'central nervous system cancer' 'malignant glioma' SubClassOf 'glioma' 'malignant glioma' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0100344 Bartter disease type 1 'Bartter disease type 1' SubClassOf 'Bartter syndrome' 'Bartter disease type 1' SubClassOf 'Bartter syndrome' http://purl.obolibrary.org/obo/MONDO_0100310 hereditary cerebellar ataxia 'hereditary cerebellar ataxia' SubClassOf 'cerebellar ataxia' 'hereditary cerebellar ataxia' SubClassOf 'cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0100311 sensory ataxia 'sensory ataxia' SubClassOf 'atactic disorder' 'sensory ataxia' SubClassOf 'atactic disorder' http://purl.obolibrary.org/obo/MONDO_0100314 GYG1-related disorder of glycogen metabolism 'GYG1-related disorder of glycogen metabolism' SubClassOf 'disorder of glycogen metabolism' 'GYG1-related disorder of glycogen metabolism' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0100316 long QT syndrome 1 'long QT syndrome 1' SubClassOf 'familial long QT syndrome' 'long QT syndrome 1' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0100317 deficiency of adenosine deaminase 2 'deficiency of adenosine deaminase 2' SubClassOf 'type 1 interferonopathy of childhood' 'deficiency of adenosine deaminase 2' SubClassOf 'type 1 interferonopathy of childhood' http://purl.obolibrary.org/obo/MONDO_0100322 non-Zellweger spectrum disorder 'non-Zellweger spectrum disorder' SubClassOf 'peroxisome biogenesis disorder' 'non-Zellweger spectrum disorder' SubClassOf 'peroxisome biogenesis disorder' http://purl.obolibrary.org/obo/MONDO_0100323 inherited pseudohypoaldosteronism 'inherited pseudohypoaldosteronism' SubClassOf 'pseudohypoaldosteronism' 'inherited pseudohypoaldosteronism' SubClassOf 'inherited kidney disorder' 'inherited pseudohypoaldosteronism' SubClassOf 'pseudohypoaldosteronism' 'inherited pseudohypoaldosteronism' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0100325 odontochondrodysplasia 1 'odontochondrodysplasia 1' SubClassOf 'odontochondrodysplasia' 'odontochondrodysplasia 1' SubClassOf 'odontochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0100326 Glanzmann thrombasthenia 'Glanzmann thrombasthenia' SubClassOf 'inherited blood coagulation disorder' 'Glanzmann thrombasthenia' SubClassOf 'inherited bleeding disorder, platelet-type' 'Glanzmann thrombasthenia' SubClassOf 'inherited blood coagulation disorder' 'Glanzmann thrombasthenia' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0100327 hypercholanemia, familial 'hypercholanemia, familial' SubClassOf 'inborn disorder of bile acid synthesis' 'hypercholanemia, familial' SubClassOf 'inborn disorder of bile acid synthesis' http://purl.obolibrary.org/obo/MONDO_0100328 microcephaly, epilepsy, and diabetes syndrome 'microcephaly, epilepsy, and diabetes syndrome' SubClassOf 'genetic disorder' 'microcephaly, epilepsy, and diabetes syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100329 primary viral infectious disease 'primary viral infectious disease' SubClassOf 'viral disease' 'primary viral infectious disease' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0100302 LADD syndrome 1 'LADD syndrome 1' SubClassOf 'LADD syndrome' 'LADD syndrome 1' SubClassOf 'LADD syndrome' http://purl.obolibrary.org/obo/MONDO_0100303 ichthyosis, annular epidermolytic 1 'ichthyosis, annular epidermolytic 1' SubClassOf 'annular epidermolytic ichthyosis' 'ichthyosis, annular epidermolytic 1' SubClassOf 'annular epidermolytic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0100306 disorder of defective peroxisome oxidative status 'disorder of defective peroxisome oxidative status' SubClassOf 'peroxisomal single enzyme/protein defect' 'disorder of defective peroxisome oxidative status' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0100308 atactic disorder 'atactic disorder' SubClassOf 'nervous system disease' 'atactic disorder' SubClassOf 'disease has major feature' some 'Ataxia' 'atactic disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Ataxia') 'atactic disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Ataxia' 'atactic disorder' SubClassOf 'nervous system disease' 'atactic disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Ataxia') http://www.ebi.ac.uk/efo/EFO_0005524 large artery stroke 'large artery stroke' SubClassOf 'stroke' 'large artery stroke' SubClassOf 'stroke' http://www.ebi.ac.uk/efo/EFO_0005529 Chagas cardiomyopathy 'Chagas cardiomyopathy' SubClassOf 'cardiomyopathy' 'Chagas cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0005541 bone development disease 'bone development disease' SubClassOf 'bone disease' 'bone development disease' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0005542 botulism 'botulism' SubClassOf 'primary bacterial infectious disease' 'botulism' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0005540 bile duct carcinoma 'bile duct carcinoma' SubClassOf 'bile duct cancer' 'bile duct carcinoma' SubClassOf 'bile duct cancer' http://www.ebi.ac.uk/efo/EFO_0005545 congenital disorder of glycosylation type I 'congenital disorder of glycosylation type I' SubClassOf 'congenital disorder of glycosylation' 'congenital disorder of glycosylation type I' SubClassOf 'congenital disorder of glycosylation' http://www.ebi.ac.uk/efo/EFO_0005546 congenital disorder of glycosylation type II 'congenital disorder of glycosylation type II' SubClassOf 'congenital disorder of glycosylation' 'congenital disorder of glycosylation type II' SubClassOf 'congenital disorder of glycosylation' http://www.ebi.ac.uk/efo/EFO_0005543 glioma 'glioma' SubClassOf 'neuroepithelial neoplasm' 'glioma' SubClassOf 'neuroepithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0005549 diphtheria 'diphtheria' SubClassOf 'primary bacterial infectious disease' 'diphtheria' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0005547 dengue disease 'dengue disease' SubClassOf 'vector-borne disease' 'dengue disease' SubClassOf 'Flaviviridae infectious disease' 'dengue disease' SubClassOf 'vector-borne disease' 'dengue disease' SubClassOf 'Flaviviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0005548 developmental disorder of mental health 'developmental disorder of mental health' SubClassOf 'mental or behavioural disorder' 'developmental disorder of mental health' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0005531 urticaria 'urticaria' SubClassOf 'dermatitis' 'urticaria' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_0005534 delayed encephalopathy after acute carbon monoxide poisoning 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf 'carbon monoxide poisoning' 'delayed encephalopathy after acute carbon monoxide poisoning' SubClassOf 'carbon monoxide poisoning' http://www.ebi.ac.uk/efo/EFO_0005532 angioedema 'angioedema' SubClassOf 'skin vascular disease' 'angioedema' SubClassOf 'urticaria' 'angioedema' SubClassOf 'skin vascular disease' 'angioedema' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_0005539 adrenal gland disease 'adrenal gland disease' SubClassOf 'endocrine system disease' 'adrenal gland disease' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0005561 histiocytoma 'histiocytoma' SubClassOf 'neoplasm' 'histiocytoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0005562 hydronephrosis 'hydronephrosis' SubClassOf 'kidney disease' 'hydronephrosis' SubClassOf 'urinary tract obstruction' 'hydronephrosis' SubClassOf 'kidney disease' 'hydronephrosis' SubClassOf 'urinary tract obstruction' http://www.ebi.ac.uk/efo/EFO_0005567 malignant peritoneal mesothelioma 'malignant peritoneal mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant peritoneal mesothelioma' SubClassOf 'peritoneum cancer' 'malignant peritoneal mesothelioma' SubClassOf 'Peritoneal Mesothelioma' 'malignant peritoneal mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant peritoneal mesothelioma' SubClassOf 'peritoneum cancer' 'malignant peritoneal mesothelioma' SubClassOf 'Peritoneal Mesothelioma' http://www.ebi.ac.uk/efo/EFO_0005565 janus kinase-3 deficiency 'janus kinase-3 deficiency' SubClassOf 'severe combined immunodeficiency' 'janus kinase-3 deficiency' SubClassOf 'severe combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0005569 microphthalmia 'microphthalmia' SubClassOf 'eye disease' 'microphthalmia' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0005553 eccrine sweat gland cancer 'eccrine sweat gland cancer' SubClassOf 'sweat gland cancer' 'eccrine sweat gland cancer' SubClassOf 'eccrine sweat gland neoplasm' 'eccrine sweat gland cancer' SubClassOf 'sweat gland cancer' 'eccrine sweat gland cancer' SubClassOf 'eccrine sweat gland neoplasm' http://www.ebi.ac.uk/efo/EFO_0005551 dysembryoplastic neuroepithelial tumor 'dysembryoplastic neuroepithelial tumor' SubClassOf 'mixed neuronal-glial tumor' 'dysembryoplastic neuroepithelial tumor' SubClassOf 'mixed neuronal-glial tumor' http://www.ebi.ac.uk/efo/EFO_0005556 Gilbert syndrome 'Gilbert syndrome' SubClassOf 'syndromic disease' 'Gilbert syndrome' SubClassOf 'hereditary hyperbilirubinemia' 'Gilbert syndrome' SubClassOf 'syndromic disease' 'Gilbert syndrome' SubClassOf 'hereditary hyperbilirubinemia' http://www.ebi.ac.uk/efo/EFO_0005557 gum cancer 'gum cancer' SubClassOf 'gingival neoplasm' 'gum cancer' SubClassOf 'oral cavity cancer' 'gum cancer' SubClassOf 'gingival neoplasm' 'gum cancer' SubClassOf 'oral cavity cancer' http://www.ebi.ac.uk/efo/EFO_0005555 gamma chain deficiency 'gamma chain deficiency' SubClassOf 'familial severe combined immunodeficiency' 'gamma chain deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'gamma chain deficiency' SubClassOf 'familial severe combined immunodeficiency' 'gamma chain deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_0005581 red-green color blindness 'red-green color blindness' SubClassOf 'colorblindness, partial' 'red-green color blindness' SubClassOf 'colorblindness, partial' http://www.ebi.ac.uk/efo/EFO_0005582 renal pelvis carcinoma 'renal pelvis carcinoma' SubClassOf 'renal carcinoma' 'renal pelvis carcinoma' SubClassOf 'renal carcinoma' http://www.ebi.ac.uk/efo/EFO_0005580 red color blindness 'red color blindness' SubClassOf 'eye disease' 'red color blindness' SubClassOf 'color vision disorder' 'red color blindness' SubClassOf 'eye disease' 'red color blindness' SubClassOf 'color vision disorder' http://www.ebi.ac.uk/efo/EFO_0005585 shigellosis 'shigellosis' SubClassOf 'dysentery' 'shigellosis' SubClassOf 'primary bacterial infectious disease' 'shigellosis' SubClassOf 'dysentery' 'shigellosis' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0005583 rickets 'rickets' SubClassOf 'bone remodeling disease' 'rickets' SubClassOf 'bone remodeling disease' http://www.ebi.ac.uk/efo/EFO_0005584 seborrheic keratosis 'seborrheic keratosis' SubClassOf 'keratosis' 'seborrheic keratosis' SubClassOf 'keratosis' http://www.ebi.ac.uk/efo/EFO_0005588 small intestine carcinoma 'small intestine carcinoma' SubClassOf 'Digestive System Carcinoma' 'small intestine carcinoma' SubClassOf 'small intestine cancer' 'small intestine carcinoma' SubClassOf 'Digestive System Carcinoma' 'small intestine carcinoma' SubClassOf 'small intestine cancer' http://www.ebi.ac.uk/efo/EFO_0005570 oral cavity cancer 'oral cavity cancer' SubClassOf 'mouth neoplasm' 'oral cavity cancer' SubClassOf 'digestive system cancer' 'oral cavity cancer' SubClassOf 'mouth neoplasm' 'oral cavity cancer' SubClassOf 'digestive system cancer' http://www.ebi.ac.uk/efo/EFO_0005571 osteochondrodysplasia 'osteochondrodysplasia' SubClassOf 'bone development disease' 'osteochondrodysplasia' SubClassOf 'bone development disease' http://www.ebi.ac.uk/efo/EFO_0005578 pituitary cancer 'pituitary cancer' SubClassOf 'pituitary tumor' 'pituitary cancer' SubClassOf 'pituitary tumor' http://www.ebi.ac.uk/efo/EFO_0005579 pseudohermaphroditism 'pseudohermaphroditism' SubClassOf 'indeterminate sex and/or pseudohermaphroditism' 'pseudohermaphroditism' SubClassOf 'indeterminate sex and/or pseudohermaphroditism' http://www.ebi.ac.uk/efo/EFO_0005576 pernicious anemia 'pernicious anemia' SubClassOf 'nutritional deficiency disease' 'pernicious anemia' SubClassOf 'megaloblastic anemia' 'pernicious anemia' SubClassOf 'genetic disorder' 'pernicious anemia' SubClassOf 'nutritional deficiency disease' 'pernicious anemia' SubClassOf 'megaloblastic anemia' 'pernicious anemia' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0005577 pharynx cancer 'pharynx cancer' SubClassOf 'pharynx neoplasm' 'pharynx cancer' SubClassOf 'malignant tumor of neck' 'pharynx cancer' SubClassOf 'digestive system cancer' 'pharynx cancer' SubClassOf 'pharynx neoplasm' 'pharynx cancer' SubClassOf 'malignant tumor of neck' 'pharynx cancer' SubClassOf 'digestive system cancer' http://www.ebi.ac.uk/efo/EFO_0005592 T-cell leukemia 'T-cell leukemia' SubClassOf 'lymphoid leukemia' 'T-cell leukemia' SubClassOf 'leukocyte disorder' 'T-cell leukemia' SubClassOf 'lymphoid leukemia' 'T-cell leukemia' SubClassOf 'leukocyte disorder' http://www.ebi.ac.uk/efo/EFO_0005593 tetanus 'tetanus' SubClassOf 'primary bacterial infectious disease' 'tetanus' SubClassOf 'infectious disorder of the nervous system' 'tetanus' SubClassOf 'primary bacterial infectious disease' 'tetanus' SubClassOf 'infectious disorder of the nervous system' http://www.ebi.ac.uk/efo/EFO_0005590 steroid inherited metabolic disorder 'steroid inherited metabolic disorder' SubClassOf 'inherited lipid metabolism disorder' 'steroid inherited metabolic disorder' SubClassOf 'inherited lipid metabolism disorder' http://www.ebi.ac.uk/efo/EFO_0005591 sweat gland carcinoma 'sweat gland carcinoma' SubClassOf 'skin appendage carcinoma' 'sweat gland carcinoma' SubClassOf 'adenocarcinoma' 'sweat gland carcinoma' SubClassOf 'sweat gland cancer' 'sweat gland carcinoma' SubClassOf 'skin appendage carcinoma' 'sweat gland carcinoma' SubClassOf 'adenocarcinoma' 'sweat gland carcinoma' SubClassOf 'sweat gland cancer' http://www.ebi.ac.uk/efo/EFO_0005596 vitamin metabolic disorder 'vitamin metabolic disorder' SubClassOf 'vitamin deficiency disorder' 'vitamin metabolic disorder' SubClassOf 'inborn errors of metabolism' 'vitamin metabolic disorder' SubClassOf 'vitamin deficiency disorder' 'vitamin metabolic disorder' SubClassOf 'inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0005595 toxic encephalopathy 'toxic encephalopathy' SubClassOf 'nervous system disease' 'toxic encephalopathy' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0016309 Niemann-Pick disease type C, juvenile neurologic onset 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016305 atypical pantothenate kinase-associated neurodegeneration 'atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'pantothenate kinase-associated neurodegeneration' 'atypical pantothenate kinase-associated neurodegeneration' SubClassOf 'pantothenate kinase-associated neurodegeneration' http://purl.obolibrary.org/obo/MONDO_0016306 Niemann-Pick disease type C, severe perinatal form 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, severe perinatal form' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016307 Niemann-Pick disease type C, severe early infantile neurologic onset 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016308 Niemann-Pick disease type C, late infantile neurologic onset 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016301 congenitally corrected transposition of the great arteries 'congenitally corrected transposition of the great arteries' SubClassOf 'transposition of the great arteries' 'congenitally corrected transposition of the great arteries' SubClassOf 'transposition of the great arteries' http://purl.obolibrary.org/obo/MONDO_0016302 isolated congenitally uncorrected transposition of the great arteries 'isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'dextro-looped transposition of the great arteries' 'isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'dextro-looped transposition of the great arteries' http://purl.obolibrary.org/obo/MONDO_0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation 'congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'dextro-looped transposition of the great arteries' 'congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'dextro-looped transposition of the great arteries' http://purl.obolibrary.org/obo/MONDO_0016304 classic pantothenate kinase-associated neurodegeneration 'classic pantothenate kinase-associated neurodegeneration' SubClassOf 'pantothenate kinase-associated neurodegeneration' 'classic pantothenate kinase-associated neurodegeneration' SubClassOf 'pantothenate kinase-associated neurodegeneration' http://purl.obolibrary.org/obo/MONDO_0016316 mucopolysaccharidosis type 2, attenuated form 'mucopolysaccharidosis type 2, attenuated form' SubClassOf 'mucopolysaccharidosis type 2' 'mucopolysaccharidosis type 2, attenuated form' SubClassOf 'mucopolysaccharidosis type 2' http://purl.obolibrary.org/obo/MONDO_0016319 congenital insensitivity to pain with hyperhidrosis 'congenital insensitivity to pain with hyperhidrosis' SubClassOf 'hereditary sensory and autonomic neuropathy' 'congenital insensitivity to pain with hyperhidrosis' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0016315 mucopolysaccharidosis type 2, severe form 'mucopolysaccharidosis type 2, severe form' SubClassOf 'mucopolysaccharidosis type 2' 'mucopolysaccharidosis type 2, severe form' SubClassOf 'mucopolysaccharidosis type 2' http://purl.obolibrary.org/obo/MONDO_0016310 Niemann-Pick disease type C, adult neurologic onset 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016311 Bockenheimer syndrome 'Bockenheimer syndrome' SubClassOf 'skin vascular disease' 'Bockenheimer syndrome' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0100191 inherited kidney disorder 'inherited kidney disorder' SubClassOf 'kidney disease' 'inherited kidney disorder' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0100192 liver failure 'liver failure' SubClassOf 'liver disease' 'liver failure' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0100193 chronic liver failure 'chronic liver failure' SubClassOf 'liver failure' 'chronic liver failure' SubClassOf 'liver failure' http://purl.obolibrary.org/obo/MONDO_0100194 pregnancy associated osteoporosis 'pregnancy associated osteoporosis' SubClassOf 'osteoporosis' 'pregnancy associated osteoporosis' SubClassOf 'pregnancy disorder' 'pregnancy associated osteoporosis' SubClassOf 'pregnancy disorder' 'pregnancy associated osteoporosis' SubClassOf 'osteoporosis' http://purl.obolibrary.org/obo/MONDO_0100195 X-linked intellectual disability with hypopituitarism 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and ('disease has major feature' some 'hypopituitarism') 'X-linked intellectual disability with hypopituitarism' SubClassOf 'disease has major feature' some 'hypopituitarism' 'X-linked intellectual disability with hypopituitarism' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'hypopituitarism' 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'hypopituitarism') http://purl.obolibrary.org/obo/MONDO_0100196 TPM2-related myopathy 'TPM2-related myopathy' SubClassOf 'congenital myopathy' 'TPM2-related myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'TPM2-related myopathy' SubClassOf 'congenital myopathy' 'TPM2-related myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' http://purl.obolibrary.org/obo/MONDO_0100198 Mendelian encephalopathy 'Mendelian encephalopathy' SubClassOf 'genetic disorder' 'Mendelian encephalopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016322 neuroendocrine cell hyperplasia of infancy 'neuroendocrine cell hyperplasia of infancy' SubClassOf 'interstitial lung disease specific to infancy' 'neuroendocrine cell hyperplasia of infancy' SubClassOf 'hyperplasia' 'neuroendocrine cell hyperplasia of infancy' SubClassOf 'interstitial lung disease specific to infancy' 'neuroendocrine cell hyperplasia of infancy' SubClassOf 'hyperplasia' http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy 'non-familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' 'non-familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy 'non-familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' 'non-familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0016331 infantile systemic hyalinosis 'infantile systemic hyalinosis' SubClassOf 'hyaline fibromatosis syndrome' 'infantile systemic hyalinosis' SubClassOf 'hyaline fibromatosis syndrome' http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy 'familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' 'familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0100173 leukemia, acute myeloid, susceptibility to 'leukemia, acute myeloid, susceptibility to' SubClassOf 'predisposes towards' some 'acute myeloid leukemia' 'leukemia, acute myeloid, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100174 age related macular degeneration, susceptibility to 'age related macular degeneration, susceptibility to' SubClassOf 'inherited disease susceptibility' 'age related macular degeneration, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100175 TTN-related myopathy 'TTN-related myopathy' SubClassOf 'qualitative or quantitative defects of titin' 'TTN-related myopathy' SubClassOf 'congenital myopathy' 'TTN-related myopathy' SubClassOf 'qualitative or quantitative defects of titin' 'TTN-related myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0100176 AP-4 deficiency syndrome 'AP-4 deficiency syndrome' SubClassOf 'genetic disorder' 'AP-4 deficiency syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100178 dermatitis, atopic, susceptibility to 'dermatitis, atopic, susceptibility to' SubClassOf 'inherited disease susceptibility' 'dermatitis, atopic, susceptibility to' SubClassOf 'predisposes towards' some 'dermatitis, atopic' 'dermatitis, atopic, susceptibility to' SubClassOf 'inherited disease susceptibility' 'dermatitis, atopic, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'dermatitis, atopic' http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus 'congenital hydrocephalus' SubClassOf 'congenital nervous system disorder' 'congenital hydrocephalus' SubClassOf 'disorder of development or morphogenesis' 'congenital hydrocephalus' SubClassOf 'congenital nervous system disorder' 'congenital hydrocephalus' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0016346 hydrocephalus-obesity-hypogonadism syndrome 'hydrocephalus-obesity-hypogonadism syndrome' SubClassOf 'syndromic disease' 'hydrocephalus-obesity-hypogonadism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016342 familial isolated arrhythmogenic right ventricular dysplasia 'familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'arrhythmogenic right ventricular cardiomyopathy' 'familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'arrhythmogenic right ventricular cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0016344 hydranencephaly 'hydranencephaly' SubClassOf 'encephaloclastic disorder' 'hydranencephaly' SubClassOf 'anencephaly' 'hydranencephaly' SubClassOf 'encephaloclastic disorder' 'hydranencephaly' SubClassOf 'anencephaly' http://purl.obolibrary.org/obo/MONDO_0016340 familial restrictive cardiomyopathy 'familial restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' 'familial restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0100182 schizophrenia, susceptibility to 'schizophrenia, susceptibility to' SubClassOf 'inherited disease susceptibility' 'schizophrenia, susceptibility to' SubClassOf 'predisposes towards' some 'schizophrenia' 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'schizophrenia') 'schizophrenia, susceptibility to' SubClassOf 'inherited disease susceptibility' 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'schizophrenia') 'schizophrenia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'schizophrenia' http://purl.obolibrary.org/obo/MONDO_0100184 GTP cyclohydrolase I deficiency 'GTP cyclohydrolase I deficiency' SubClassOf 'tetrahydrobiopterin metabolic process disease' 'GTP cyclohydrolase I deficiency' SubClassOf 'tetrahydrobiopterin metabolic process disease' http://purl.obolibrary.org/obo/MONDO_0100186 GTP cyclohydrolase I deficiency with hyperphenylalaninemia 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf 'GTP cyclohydrolase I deficiency' 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' 'GTP cyclohydrolase I deficiency with hyperphenylalaninemia' SubClassOf 'GTP cyclohydrolase I deficiency' http://purl.obolibrary.org/obo/MONDO_0016357 dysplastic cortical hyperostosis 'dysplastic cortical hyperostosis' SubClassOf 'neonatal osteosclerotic dysplasia' 'dysplastic cortical hyperostosis' SubClassOf 'neonatal osteosclerotic dysplasia' http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis 'limited cutaneous systemic sclerosis' SubClassOf 'systemic scleroderma' 'limited cutaneous systemic sclerosis' SubClassOf 'systemic scleroderma' http://purl.obolibrary.org/obo/MONDO_0016354 xeroderma pigmentosum-Cockayne syndrome complex 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'xeroderma pigmentosum' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'syndromic disease' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'hereditary photodermatosis' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'Cockayne syndrome' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Cockayne syndrome' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'xeroderma pigmentosum' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'syndromic disease' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'hereditary photodermatosis' http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'syndromic disease' 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0100150 RYR1-related myopathy 'RYR1-related myopathy' SubClassOf 'congenital myopathy' 'RYR1-related myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0100151 nephropathic cystinosis 'nephropathic cystinosis' SubClassOf 'cystinosis' 'nephropathic cystinosis' SubClassOf 'cystinosis' http://purl.obolibrary.org/obo/MONDO_0100152 DKC1-related disorder 'DKC1-related disorder' SubClassOf 'dyskeratosis congenita' 'DKC1-related disorder' SubClassOf 'dyskeratosis congenita' http://purl.obolibrary.org/obo/MONDO_0100153 tubulinopathy 'tubulinopathy' SubClassOf 'nervous system disease' 'tubulinopathy' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0100154 TUBB3-related tubulinopathy 'TUBB3-related tubulinopathy' SubClassOf 'tubulinopathy' 'TUBB3-related tubulinopathy' SubClassOf 'tubulinopathy' http://purl.obolibrary.org/obo/MONDO_0100157 Imerslund-Grasbeck syndrome type 2 'Imerslund-Grasbeck syndrome type 2' SubClassOf 'Imerslund-Grasbeck syndrome' 'Imerslund-Grasbeck syndrome type 2' SubClassOf 'Imerslund-Grasbeck syndrome' http://purl.obolibrary.org/obo/MONDO_0016368 Rothmund-Thomson syndrome type 1 'Rothmund-Thomson syndrome type 1' SubClassOf 'Rothmund-Thomson syndrome' 'Rothmund-Thomson syndrome type 1' SubClassOf 'Rothmund-Thomson syndrome' http://purl.obolibrary.org/obo/MONDO_0016369 Rothmund-Thomson syndrome type 2 'Rothmund-Thomson syndrome type 2' SubClassOf 'Rothmund-Thomson syndrome' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Rothmund-Thomson syndrome' http://purl.obolibrary.org/obo/MONDO_0016364 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with ocular defect' SubClassOf 'disorder of visual system' 'Joubert syndrome with ocular defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with ocular defect' SubClassOf 'syndromic disease' 'Joubert syndrome with ocular defect' SubClassOf 'disorder of visual system' 'Joubert syndrome with ocular defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'Joubert syndrome with ocular defect' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016365 familial primary hyperparathyroidism 'familial primary hyperparathyroidism' SubClassOf 'tumor of parathyroid gland' 'familial primary hyperparathyroidism' SubClassOf 'hereditary hyperparathyroidism' 'familial primary hyperparathyroidism' SubClassOf 'tumor of parathyroid gland' 'familial primary hyperparathyroidism' SubClassOf 'hereditary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0016366 maternal phenylketonuria 'maternal phenylketonuria' SubClassOf 'phenylketonuria' 'maternal phenylketonuria' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0016360 marcothrombocytopenia with mitral valve insufficiency 'marcothrombocytopenia with mitral valve insufficiency' SubClassOf 'syndromic constitutional thrombocytopenia' 'marcothrombocytopenia with mitral valve insufficiency' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0016362 attenuated familial adenomatous polyposis 'attenuated familial adenomatous polyposis' SubClassOf 'classic or attenuated familial adenomatous polyposis' 'attenuated familial adenomatous polyposis' SubClassOf 'classic or attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0100162 IKBKG-related immunodeficiency with or without ectodermal dysplasia 'IKBKG-related immunodeficiency with or without ectodermal dysplasia' SubClassOf 'immunodeficiency disease' 'IKBKG-related immunodeficiency with or without ectodermal dysplasia' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0100164 permanent neonatal diabetes mellitus 'permanent neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' 'permanent neonatal diabetes mellitus' SubClassOf 'disorder of glycolysis' 'permanent neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' 'permanent neonatal diabetes mellitus' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0100165 permanent neonatal diabetes mellitus 1 'permanent neonatal diabetes mellitus 1' SubClassOf 'permanent neonatal diabetes mellitus' 'permanent neonatal diabetes mellitus 1' SubClassOf 'permanent neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0100167 pulmonary disease, chronic obstructive, susceptibility to 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'predisposes towards' some 'chronic obstructive pulmonary disease' 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'inherited disease susceptibility' 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'chronic obstructive pulmonary disease' 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100168 desmoid tumor caused by somatic mutation 'desmoid tumor caused by somatic mutation' SubClassOf 'Desmoid-type fibromatosis' 'desmoid tumor caused by somatic mutation' SubClassOf 'Desmoid-type fibromatosis' http://purl.obolibrary.org/obo/MONDO_0016374 cranial neuralgia 'cranial neuralgia' SubClassOf 'acquired peripheral neuropathy' 'cranial neuralgia' SubClassOf 'cranial nerve neuropathy' 'cranial neuralgia' SubClassOf 'acquired peripheral neuropathy' 'cranial neuralgia' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0016377 Pitt-Hopkins-like syndrome 'Pitt-Hopkins-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pitt-Hopkins-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016390 familial hypoparathyroidism 'familial hypoparathyroidism' SubClassOf 'hereditary hypoparathyroidism' 'familial hypoparathyroidism' SubClassOf 'hereditary hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0016391 neonatal diabetes mellitus 'neonatal diabetes mellitus' SubClassOf 'monogenic diabetes' 'neonatal diabetes mellitus' SubClassOf 'monogenic diabetes' http://purl.obolibrary.org/obo/MONDO_0100130 adult acute respiratory distress syndrome 'adult acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' 'adult acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' http://purl.obolibrary.org/obo/MONDO_0100131 pediatric acute respiratory distress syndrome 'pediatric acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' 'pediatric acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' http://purl.obolibrary.org/obo/MONDO_0100132 intrahepatic bile duct adenosquamous carcinoma 'intrahepatic bile duct adenosquamous carcinoma' SubClassOf 'adenosquamous bile duct carcinoma' 'intrahepatic bile duct adenosquamous carcinoma' SubClassOf 'adenosquamous bile duct carcinoma' http://purl.obolibrary.org/obo/MONDO_0100135 Dravet syndrome 'Dravet syndrome' SubClassOf 'disease shares features of' some 'developmental and epileptic encephalopathy, 6' 'Dravet syndrome' SubClassOf 'developmental and epileptic encephalopathy' 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'developmental and epileptic encephalopathy, 6' 'Dravet syndrome' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome 'telomere syndrome' SubClassOf 'disease has location' some 'chromosome, telomeric region' 'telomere syndrome' SubClassOf 'premature aging syndrome' 'telomere syndrome' SubClassOf 'disease has location' some 'chromosome, telomeric region' 'telomere syndrome' SubClassOf 'premature aging syndrome' http://purl.obolibrary.org/obo/MONDO_0100138 X-linked recessive mitochondrial myopathy 'X-linked recessive mitochondrial myopathy' SubClassOf 'X-linked recessive disease' 'X-linked recessive mitochondrial myopathy' SubClassOf 'inborn mitochondrial myopathy' 'X-linked recessive mitochondrial myopathy' SubClassOf 'X-linked recessive disease' 'X-linked recessive mitochondrial myopathy' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'syndromic disease' 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 'hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' 'hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'hypogonadotropic hypogonadism-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder 'mitochondrial oxidative phosphorylation disorder' SubClassOf 'inborn mitochondrial metabolism disorder' 'mitochondrial oxidative phosphorylation disorder' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0016381 hypertrichosis lanuginosa congenita 'hypertrichosis lanuginosa congenita' SubClassOf 'hypertrichosis' 'hypertrichosis lanuginosa congenita' SubClassOf 'ectodermal dysplasia syndrome' 'hypertrichosis lanuginosa congenita' SubClassOf 'hypertrichosis' 'hypertrichosis lanuginosa congenita' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0016382 hereditary poikiloderma 'hereditary poikiloderma' SubClassOf 'epidermal disease' 'hereditary poikiloderma' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus 'nephrogenic diabetes insipidus' SubClassOf 'inherited renal tubular disease' 'nephrogenic diabetes insipidus' SubClassOf 'diabetes insipidus' 'nephrogenic diabetes insipidus' SubClassOf 'impaired renal function disease' 'nephrogenic diabetes insipidus' SubClassOf 'inherited renal tubular disease' 'nephrogenic diabetes insipidus' SubClassOf 'diabetes insipidus' 'nephrogenic diabetes insipidus' SubClassOf 'impaired renal function disease' http://purl.obolibrary.org/obo/MONDO_0016384 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 'hypogonadotropic hypogonadism-frontoparietal alopecia syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'hypogonadotropic hypogonadism-frontoparietal alopecia syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0100146 ATP6AP2-related disorder 'ATP6AP2-related disorder' SubClassOf 'X-linked syndromic intellectual disability' 'ATP6AP2-related disorder' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0041366 acute epiglottitis 'acute epiglottitis' SubClassOf 'epiglottitis' 'acute epiglottitis' SubClassOf 'epiglottitis' http://purl.obolibrary.org/obo/MONDO_0100147 SATB2 associated disorder 'SATB2 associated disorder' SubClassOf 'syndromic intellectual disability' 'SATB2 associated disorder' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100148 X-linked complex neurodevelopmental disorder 'X-linked complex neurodevelopmental disorder' SubClassOf 'complex neurodevelopmental disorder' 'X-linked complex neurodevelopmental disorder' SubClassOf 'complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0016396 pontocerebellar hypoplasia type 1 'pontocerebellar hypoplasia type 1' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'pontocerebellar hypoplasia type 1' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 1' SubClassOf 'bulbospinal muscular atrophy' 'pontocerebellar hypoplasia type 1' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'pontocerebellar hypoplasia type 1' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 1' SubClassOf 'bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0016393 hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome 'hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0016394 sporadic infantile bilateral striatal necrosis 'sporadic infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' 'sporadic infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' http://purl.obolibrary.org/obo/MONDO_0016395 foveal hypoplasia-presenile cataract syndrome 'foveal hypoplasia-presenile cataract syndrome' SubClassOf 'inherited retinal dystrophy' 'foveal hypoplasia-presenile cataract syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100110 adenovirus renal infection 'adenovirus renal infection' SubClassOf 'disease has major feature' some 'Severe adenovirus infection' 'adenovirus renal infection' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Severe adenovirus infection' http://purl.obolibrary.org/obo/MONDO_0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome 'focal segmental glomerulosclerosis and neurodevelopmental syndrome' SubClassOf 'genetic disorder' 'focal segmental glomerulosclerosis and neurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100112 acyl-CoA binding domain containing protein 5 deficiency 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'disorder of peroxisomal transporter' 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'disorder of plasmalogens biosynthesis' 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'disorder of peroxisomal transporter' 'acyl-CoA binding domain containing protein 5 deficiency' SubClassOf 'disorder of plasmalogens biosynthesis' http://www.ebi.ac.uk/efo/EFO_0005924 binge eating 'binge eating' SubClassOf 'eating disorder' 'binge eating' SubClassOf 'eating disorder' http://purl.obolibrary.org/obo/MONDO_0100116 Middle East respiratory syndrome 'Middle East respiratory syndrome' SubClassOf 'respiratory system disease' 'Middle East respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' 'Middle East respiratory syndrome' SubClassOf 'respiratory system disease' 'Middle East respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' http://www.ebi.ac.uk/efo/EFO_0005922 esophageal squamous cell carcinoma 'esophageal squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'esophageal carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'esophageal squamous cell carcinoma' SubClassOf 'esophageal carcinoma' http://purl.obolibrary.org/obo/MONDO_0100118 hereditary skin disorder 'hereditary skin disorder' SubClassOf 'skin disease' 'hereditary skin disorder' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0100121 SCN4A-related myopathy, autosomal recessive 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Skeletal muscle atrophy' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Decreased fetal movement' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'congenital myopathy' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'craniosynostosis' 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Skeletal muscle atrophy' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'congenital myopathy' 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Decreased fetal movement' 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0100122 GNPTAB-mucolipidosis 'GNPTAB-mucolipidosis' SubClassOf 'mucolipidosis' 'GNPTAB-mucolipidosis' SubClassOf 'mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0100124 NAA10-related syndrome 'NAA10-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'NAA10-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100126 P5CS deficiency 'P5CS deficiency' SubClassOf 'inborn disorder of ornithine metabolism' 'P5CS deficiency' SubClassOf 'inborn disorder of proline metabolism' 'P5CS deficiency' SubClassOf 'inborn disorder of ornithine metabolism' 'P5CS deficiency' SubClassOf 'inborn disorder of proline metabolism' http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy 'generalised epilepsy' SubClassOf 'epilepsy' 'generalised epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100210 growth hormone insensitivity syndrome with immune dysregulation 'growth hormone insensitivity syndrome with immune dysregulation' SubClassOf 'growth hormone insensitivity syndrome' 'growth hormone insensitivity syndrome with immune dysregulation' SubClassOf 'growth hormone insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'immune system disease' 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0100212 IFAP syndrome 'IFAP syndrome' SubClassOf 'syndromic disease' 'IFAP syndrome' SubClassOf 'inherited ichthyosis' 'IFAP syndrome' SubClassOf 'syndromic disease' 'IFAP syndrome' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0100213 IFAP syndrome 1, with or without BRESHECK syndrome 'IFAP syndrome 1, with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' 'IFAP syndrome 1, with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' http://purl.obolibrary.org/obo/MONDO_0100214 Rajab interstitial lung disease with brain calcifications 'Rajab interstitial lung disease with brain calcifications' SubClassOf 'interstitial lung disease' 'Rajab interstitial lung disease with brain calcifications' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0100215 Rajab interstitial lung disease with brain calcifications 1 'Rajab interstitial lung disease with brain calcifications 1' SubClassOf 'Rajab interstitial lung disease with brain calcifications' 'Rajab interstitial lung disease with brain calcifications 1' SubClassOf 'Rajab interstitial lung disease with brain calcifications' http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition 'DICER1-related tumor predisposition' SubClassOf 'syndromic disease' 'DICER1-related tumor predisposition' SubClassOf 'predisposes towards' some 'cancer' 'DICER1-related tumor predisposition' SubClassOf 'syndromic disease' 'DICER1-related tumor predisposition' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'cancer' http://purl.obolibrary.org/obo/MONDO_0100218 arthrogryposis multiplex congenita 5 'arthrogryposis multiplex congenita 5' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita 5' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0100219 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant 'growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant' SubClassOf 'growth hormone insensitivity syndrome with immune dysregulation' 'growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant' SubClassOf 'growth hormone insensitivity syndrome with immune dysregulation' http://purl.obolibrary.org/obo/GO_1901135 carbohydrate derivative metabolic process 'carbohydrate derivative metabolic process' SubClassOf 'organic substance metabolic process' 'carbohydrate derivative metabolic process' SubClassOf 'metabolic process' http://purl.obolibrary.org/obo/GO_1901137 carbohydrate derivative biosynthetic process 'carbohydrate derivative biosynthetic process' SubClassOf 'organic substance biosynthetic process' 'carbohydrate derivative biosynthetic process' SubClassOf 'biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0100220 Rajab interstitial lung disease with brain calcifications 2 'Rajab interstitial lung disease with brain calcifications 2' SubClassOf 'Rajab interstitial lung disease with brain calcifications' 'Rajab interstitial lung disease with brain calcifications 2' SubClassOf 'Rajab interstitial lung disease with brain calcifications' http://purl.obolibrary.org/obo/MONDO_0100221 IFAP syndrome 2 'IFAP syndrome 2' SubClassOf 'IFAP syndrome' 'IFAP syndrome 2' SubClassOf 'IFAP syndrome' http://purl.obolibrary.org/obo/MONDO_0100222 A20 haploinsufficiency 'A20 haploinsufficiency' SubClassOf 'inborn error of immunity' 'A20 haploinsufficiency' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0100223 mitochondrial complex I deficiency, nuclear type 'mitochondrial complex I deficiency, nuclear type' SubClassOf 'mitochondrial complex I deficiency' 'mitochondrial complex I deficiency, nuclear type' SubClassOf 'mitochondrial complex I deficiency' http://purl.obolibrary.org/obo/MONDO_0100225 collagen 6-related myopathy 'collagen 6-related myopathy' SubClassOf 'myopathy' 'collagen 6-related myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0100227 ALS2-related motor neuron disease 'ALS2-related motor neuron disease' SubClassOf 'hereditary motor neuron disease' 'ALS2-related motor neuron disease' SubClassOf 'hereditary motor neuron disease' http://www.ebi.ac.uk/efo/EFO_0005815 tauopathy 'tauopathy' SubClassOf 'neurodegenerative disease' 'tauopathy' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0005840 Pyruvate kinase hyperactivity 'Pyruvate kinase hyperactivity' SubClassOf 'pyruvate metabolism disorder' 'Pyruvate kinase hyperactivity' SubClassOf 'pyruvate metabolism disorder' http://www.ebi.ac.uk/efo/EFO_0005846 cryoglobulinemia 'cryoglobulinemia' SubClassOf 'type II hypersensitivity reaction disease' 'cryoglobulinemia' SubClassOf 'type IV hypersensitivity disease' 'cryoglobulinemia' SubClassOf 'type II hypersensitivity reaction disease' 'cryoglobulinemia' SubClassOf 'type IV hypersensitivity disease' http://purl.obolibrary.org/obo/MONDO_0100200 microcephaly with intellectual disability 'microcephaly with intellectual disability' SubClassOf 'microcephaly' 'microcephaly with intellectual disability' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0100202 lumbar disk herniation, susceptibility to 'lumbar disk herniation, susceptibility to' SubClassOf 'inherited disease susceptibility' 'lumbar disk herniation, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100206 lumbar disk degeneration, susceptibility to 'lumbar disk degeneration, susceptibility to' SubClassOf 'inherited disease susceptibility' 'lumbar disk degeneration, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100207 infantile-onset epilepsy 'infantile-onset epilepsy' SubClassOf 'epilepsy' 'infantile-onset epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100209 X inactivation, familial skewed 'X inactivation, familial skewed' SubClassOf 'genetic disorder' 'X inactivation, familial skewed' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0005854 allergic rhinitis 'allergic rhinitis' SubClassOf 'rhinitis' 'allergic rhinitis' SubClassOf 'rhinitis' http://www.ebi.ac.uk/efo/EFO_0005855 narcolepsy without cataplexy 'narcolepsy without cataplexy' SubClassOf 'narcolepsy' 'narcolepsy without cataplexy' SubClassOf 'narcolepsy' http://www.ebi.ac.uk/efo/EFO_0005856 arthritis 'arthritis' SubClassOf 'joint disease' 'arthritis' SubClassOf 'bone inflammation disease' 'arthritis' SubClassOf 'inflammatory disease' 'arthritis' SubClassOf 'joint disease' 'arthritis' SubClassOf 'bone inflammation disease' 'arthritis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0005895 ossification of the posterior longitudinal ligament of the spine 'ossification of the posterior longitudinal ligament of the spine' SubClassOf 'skeletal system disease' 'ossification of the posterior longitudinal ligament of the spine' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum 'inherited pseudoxanthoma elasticum' SubClassOf 'pseudoxanthoma elasticum (inherited or acquired)' 'inherited pseudoxanthoma elasticum' SubClassOf 'pseudoxanthoma elasticum (inherited or acquired)' http://purl.obolibrary.org/obo/MONDO_0100076 juvenile idiopathic scoliosis 'juvenile idiopathic scoliosis' SubClassOf 'idiopathic scoliosis' 'juvenile idiopathic scoliosis' SubClassOf 'idiopathic scoliosis' http://purl.obolibrary.org/obo/MONDO_0100079 developmental and epileptic encephalopathy, 6 'developmental and epileptic encephalopathy, 6' SubClassOf 'disease shares features of' some 'Dravet syndrome' 'developmental and epileptic encephalopathy, 6' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 6' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Dravet syndrome' 'developmental and epileptic encephalopathy, 6' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0016209 benign familial nocturnal alternating hemiplegia of childhood 'benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' 'benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' http://purl.obolibrary.org/obo/MONDO_0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 'hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'inborn disorder of bile acid synthesis' 'hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'inborn disorder of bile acid synthesis' http://purl.obolibrary.org/obo/MONDO_0016205 IRVAN syndrome 'IRVAN syndrome' SubClassOf 'eye disease' 'IRVAN syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0100083 hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 'hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1' SubClassOf 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' 'hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1' SubClassOf 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' http://purl.obolibrary.org/obo/MONDO_0100084 alpha-actinopathy 'alpha-actinopathy' SubClassOf 'congenital myopathy' 'alpha-actinopathy' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'alpha-actinopathy' SubClassOf 'congenital myopathy' 'alpha-actinopathy' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0100087 familial Alzheimer disease 'familial Alzheimer disease' SubClassOf 'Alzheimer disease' 'familial Alzheimer disease' SubClassOf 'Alzheimer disease' http://purl.obolibrary.org/obo/MONDO_0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome 'leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome' SubClassOf 'hyperpigmentation of the skin' 'leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0016215 spastic quadriplegic cerebral palsy 'spastic quadriplegic cerebral palsy' SubClassOf 'spastic cerebral palsy' 'spastic quadriplegic cerebral palsy' SubClassOf 'spastic cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0016216 adult hepatocellular carcinoma 'adult hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' 'adult hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' http://purl.obolibrary.org/obo/MONDO_0016210 alternating hemiplegia 'alternating hemiplegia' SubClassOf 'Neurodevelopmental disorder' 'alternating hemiplegia' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0600009 severe hypophosphatasia 'severe hypophosphatasia' SubClassOf 'hypophosphatasia' 'severe hypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0100052 acetazolamide-responsive hereditary episodic ataxia 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'hereditary episodic ataxia' 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'disease responds to' some 'acetazolamide' 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and ('disease responds to' some 'acetazolamide') 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'hereditary episodic ataxia' 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide' 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide') http://purl.obolibrary.org/obo/MONDO_0100054 idiopathic anaphylaxis 'idiopathic anaphylaxis' SubClassOf 'anaphylaxis' 'idiopathic anaphylaxis' SubClassOf 'anaphylaxis' http://purl.obolibrary.org/obo/MONDO_0600001 glutaminase deficiency 'glutaminase deficiency' SubClassOf 'disorder of glutamine metabolism' 'glutaminase deficiency' SubClassOf 'disorder of glutamine metabolism' http://purl.obolibrary.org/obo/MONDO_0600002 hemorrhagic fever 'hemorrhagic fever' SubClassOf 'infectious disease' 'hemorrhagic fever' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0600003 bacterial hemorrhagic fever 'bacterial hemorrhagic fever' SubClassOf 'hemorrhagic fever' 'bacterial hemorrhagic fever' SubClassOf 'hemorrhagic fever' http://purl.obolibrary.org/obo/MONDO_0016227 hereditary episodic ataxia 'hereditary episodic ataxia' SubClassOf 'hereditary ataxia' 'hereditary episodic ataxia' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0016222 spindle cell hemangioma 'spindle cell hemangioma' SubClassOf 'hemangioma' 'spindle cell hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0016223 infantile hemangioma of rare localization 'infantile hemangioma of rare localization' SubClassOf 'hemangioma' 'infantile hemangioma of rare localization' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf 'complex neurodevelopmental disorder' 'developmental and epileptic encephalopathy' SubClassOf 'generalised epilepsy' 'developmental and epileptic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' 'developmental and epileptic encephalopathy' SubClassOf 'complex neurodevelopmental disorder' 'developmental and epileptic encephalopathy' SubClassOf 'generalised epilepsy' 'developmental and epileptic encephalopathy' SubClassOf 'neonatal/infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100069 hearing impairment and infertile male syndrome 'hearing impairment and infertile male syndrome' SubClassOf 'syndromic disease' 'hearing impairment and infertile male syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0600011 mild hypophosphatasia 'mild hypophosphatasia' SubClassOf 'hypophosphatasia' 'mild hypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0016239 cystinosis 'cystinosis' SubClassOf 'inborn disorder of lysosomal amino acid transport' 'cystinosis' SubClassOf 'inborn disorder of lysosomal amino acid transport' http://purl.obolibrary.org/obo/MONDO_0016236 kaposiform hemangioendothelioma 'kaposiform hemangioendothelioma' SubClassOf 'hemangioendothelioma' 'kaposiform hemangioendothelioma' SubClassOf 'Soft Tissue Neoplasm' 'kaposiform hemangioendothelioma' SubClassOf 'hemangioendothelioma' 'kaposiform hemangioendothelioma' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0016238 solitary fibrous tumor 'solitary fibrous tumor' SubClassOf 'Fibroblastic Neoplasm' 'solitary fibrous tumor' SubClassOf 'Fibroblastic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0016231 capillary malformation 'capillary malformation' SubClassOf 'vascular disease' 'capillary malformation' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0100030 adolescent/adult-onset epilepsy syndrome 'adolescent/adult-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' 'adolescent/adult-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100033 metabolic epilepsy 'metabolic epilepsy' SubClassOf 'epilepsy' 'metabolic epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100035 structural epilepsy 'structural epilepsy' SubClassOf 'epilepsy' 'structural epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100036 variable age onset epilepsy 'variable age onset epilepsy' SubClassOf 'epilepsy' 'variable age onset epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0100037 juvenile onset pityriasis rubra pilaris 'juvenile onset pityriasis rubra pilaris' SubClassOf 'pityriasis rubra pilaris' 'juvenile onset pityriasis rubra pilaris' SubClassOf 'pityriasis rubra pilaris' http://purl.obolibrary.org/obo/MONDO_0100038 complex neurodevelopmental disorder 'complex neurodevelopmental disorder' SubClassOf 'Neurodevelopmental disorder' 'complex neurodevelopmental disorder' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100039 CDKL5 disorder 'CDKL5 disorder' SubClassOf 'genetic disorder' 'CDKL5 disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016249 hereditary site-specific ovarian cancer syndrome 'hereditary site-specific ovarian cancer syndrome' SubClassOf 'familial ovarian cancer' 'hereditary site-specific ovarian cancer syndrome' SubClassOf 'familial ovarian cancer' http://purl.obolibrary.org/obo/MONDO_0016242 hemoglobin C disease 'hemoglobin C disease' SubClassOf 'inherited hemoglobinopathy' 'hemoglobin C disease' SubClassOf 'anemia' 'hemoglobin C disease' SubClassOf 'inherited hemoglobinopathy' 'hemoglobin C disease' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0016243 hemoglobin E disease 'hemoglobin E disease' SubClassOf 'anemia' 'hemoglobin E disease' SubClassOf 'inherited hemoglobinopathy' 'hemoglobin E disease' SubClassOf 'anemia' 'hemoglobin E disease' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome 'atypical hemolytic-uremic syndrome' SubClassOf 'syndromic disease' 'atypical hemolytic-uremic syndrome' SubClassOf 'complement deficiency' 'atypical hemolytic-uremic syndrome' SubClassOf 'thrombotic microangiopathy' 'atypical hemolytic-uremic syndrome' SubClassOf 'complement deficiency' 'atypical hemolytic-uremic syndrome' SubClassOf 'syndromic disease' 'atypical hemolytic-uremic syndrome' SubClassOf 'thrombotic microangiopathy' http://purl.obolibrary.org/obo/MONDO_0016240 hemimelia 'hemimelia' SubClassOf 'non-syndromic limb reduction defect' 'hemimelia' SubClassOf 'dysostosis' 'hemimelia' SubClassOf 'non-syndromic limb reduction defect' 'hemimelia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0016241 alternating hemiplegia of childhood 'alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' 'alternating hemiplegia of childhood' SubClassOf 'hemiplegia' 'alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' 'alternating hemiplegia of childhood' SubClassOf 'hemiplegia' http://purl.obolibrary.org/obo/MONDO_0100040 FOXG1 disorder 'FOXG1 disorder' SubClassOf 'monogenic epilepsy' 'FOXG1 disorder' SubClassOf 'pervasive developmental disorder' 'FOXG1 disorder' SubClassOf 'monogenic epilepsy' 'FOXG1 disorder' SubClassOf 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0100046 exfoliation syndrome, susceptibility to 'exfoliation syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'exfoliation syndrome' 'exfoliation syndrome, susceptibility to' SubClassOf 'inherited disease susceptibility' 'exfoliation syndrome, susceptibility to' SubClassOf 'inherited disease susceptibility' 'exfoliation syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'exfoliation syndrome' http://purl.obolibrary.org/obo/MONDO_0100047 basal cell carcinoma, susceptibility to 'basal cell carcinoma, susceptibility to' SubClassOf 'inherited disease susceptibility' 'basal cell carcinoma, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100048 graft-versus-host disease, susceptibility to 'graft-versus-host disease, susceptibility to' SubClassOf 'inherited disease susceptibility' 'graft-versus-host disease, susceptibility to' SubClassOf 'predisposes towards' some 'graft versus host disease' 'graft-versus-host disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'graft versus host disease' 'graft-versus-host disease, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0016259 carcinosarcoma of the corpus uteri 'carcinosarcoma of the corpus uteri' SubClassOf 'Uterine Carcinosarcoma' 'carcinosarcoma of the corpus uteri' SubClassOf 'uterine body mixed cancer' 'carcinosarcoma of the corpus uteri' SubClassOf 'Uterine Carcinosarcoma' 'carcinosarcoma of the corpus uteri' SubClassOf 'uterine body mixed cancer' http://purl.obolibrary.org/obo/MONDO_0016255 uterine corpus mixed epithelial and mesenchymal neoplasm 'uterine corpus mixed epithelial and mesenchymal neoplasm' SubClassOf 'corpus uteri neoplasm' 'uterine corpus mixed epithelial and mesenchymal neoplasm' SubClassOf 'mixed neoplasm' 'uterine corpus mixed epithelial and mesenchymal neoplasm' SubClassOf 'corpus uteri neoplasm' 'uterine corpus mixed epithelial and mesenchymal neoplasm' SubClassOf 'mixed neoplasm' http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'syndromic disease' 'Hennekam syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hennekam syndrome' SubClassOf 'syndromic disease' 'Hennekam syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0100016 early-onset generalized dystonia 'early-onset generalized dystonia' SubClassOf 'generalized dystonia' 'early-onset generalized dystonia' SubClassOf 'generalized dystonia' http://purl.obolibrary.org/obo/MONDO_0100017 pityriasis rubra pilaris 'pityriasis rubra pilaris' SubClassOf 'erythrokeratoderma' 'pityriasis rubra pilaris' SubClassOf 'exanthem' 'pityriasis rubra pilaris' SubClassOf 'erythrokeratoderma' 'pityriasis rubra pilaris' SubClassOf 'exanthem' http://purl.obolibrary.org/obo/MONDO_0100018 adult onset pityriasis rubra pilaris 'adult onset pityriasis rubra pilaris' SubClassOf 'pityriasis rubra pilaris' 'adult onset pityriasis rubra pilaris' SubClassOf 'pityriasis rubra pilaris' http://purl.obolibrary.org/obo/MONDO_0016260 uterine corpus rhabdomyosarcoma 'uterine corpus rhabdomyosarcoma' SubClassOf 'uterine sarcoma' 'uterine corpus rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'uterine corpus rhabdomyosarcoma' SubClassOf 'uterine sarcoma' 'uterine corpus rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0016280 sarcoma of cervix uteri 'sarcoma of cervix uteri' SubClassOf 'cervical cancer' 'sarcoma of cervix uteri' SubClassOf 'cervical cancer' http://purl.obolibrary.org/obo/MONDO_0016281 46,XX ovotesticular disorder of sex development '46,XX ovotesticular disorder of sex development' SubClassOf 'disorder of sexual differentiation' '46,XX ovotesticular disorder of sex development' SubClassOf 'disorder of sexual differentiation' http://purl.obolibrary.org/obo/MONDO_0100022 neonatal/infantile epilepsy syndrome 'neonatal/infantile epilepsy syndrome' SubClassOf 'epilepsy syndrome' 'neonatal/infantile epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100024 self-limited familial infantile epilepsy 'self-limited familial infantile epilepsy' SubClassOf 'infantile-onset epilepsy' 'self-limited familial infantile epilepsy' SubClassOf 'infantile-onset epilepsy' http://purl.obolibrary.org/obo/MONDO_0100025 epilepsy of infancy with migrating focal seizures 'epilepsy of infancy with migrating focal seizures' SubClassOf 'neonatal/infantile epilepsy syndrome' 'epilepsy of infancy with migrating focal seizures' SubClassOf 'neonatal/infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0100028 immune epilepsy 'immune epilepsy' SubClassOf 'epilepsy' 'immune epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri 'malignant mixed epithelial and mesenchymal tumor of cervix uteri' SubClassOf 'cervical cancer' 'malignant mixed epithelial and mesenchymal tumor of cervix uteri' SubClassOf 'cervical cancer' http://purl.obolibrary.org/obo/MONDO_0016290 Hernández-Aguirre Negrete syndrome 'Hernández-Aguirre Negrete syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0016291 craniosynostosis, Herrmann-Opitz type 'craniosynostosis, Herrmann-Opitz type' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis, Herrmann-Opitz type' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0016292 nodular neuronal heterotopia 'nodular neuronal heterotopia' SubClassOf 'syndromic disease' 'nodular neuronal heterotopia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0600024 familial idiopathic inflammatory myopathy 'familial idiopathic inflammatory myopathy' SubClassOf 'idiopathic inflammatory myopathy' 'familial idiopathic inflammatory myopathy' SubClassOf 'idiopathic inflammatory myopathy' http://www.ebi.ac.uk/efo/EFO_0005800 substance withdrawal syndrome 'substance withdrawal syndrome' SubClassOf 'syndromic disease' 'substance withdrawal syndrome' SubClassOf 'substance-related disorder' 'substance withdrawal syndrome' SubClassOf 'syndromic disease' 'substance withdrawal syndrome' SubClassOf 'substance-related disorder' http://www.ebi.ac.uk/efo/EFO_0005801 cholesterol embolism 'cholesterol embolism' SubClassOf 'vascular disease' 'cholesterol embolism' SubClassOf 'disease has location' some 'blood vessel' 'cholesterol embolism' SubClassOf 'vascular disease' 'cholesterol embolism' SubClassOf 'disease has location' some 'blood vessel' http://www.ebi.ac.uk/efo/EFO_0005804 polycythemia 'polycythemia' SubClassOf 'bone marrow disorder' 'polycythemia' SubClassOf 'bone marrow disorder' http://www.ebi.ac.uk/efo/EFO_0005809 type II hypersensitivity reaction disease 'type II hypersensitivity reaction disease' SubClassOf 'immune system disease' 'type II hypersensitivity reaction disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0016289 malignant germ cell tumor of cervix uteri 'malignant germ cell tumor of cervix uteri' SubClassOf 'cervical cancer' 'malignant germ cell tumor of cervix uteri' SubClassOf 'cervical cancer' http://purl.obolibrary.org/obo/MONDO_0016282 rhabdomyosarcoma of the cervix uteri 'rhabdomyosarcoma of the cervix uteri' SubClassOf 'sarcoma of cervix uteri' 'rhabdomyosarcoma of the cervix uteri' SubClassOf 'rhabdomyosarcoma' 'rhabdomyosarcoma of the cervix uteri' SubClassOf 'sarcoma of cervix uteri' 'rhabdomyosarcoma of the cervix uteri' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0016283 leiomyosarcoma of the cervix uteri 'leiomyosarcoma of the cervix uteri' SubClassOf 'leiomyosarcoma' 'leiomyosarcoma of the cervix uteri' SubClassOf 'sarcoma of cervix uteri' 'leiomyosarcoma of the cervix uteri' SubClassOf 'leiomyosarcoma' 'leiomyosarcoma of the cervix uteri' SubClassOf 'sarcoma of cervix uteri' http://purl.obolibrary.org/obo/MONDO_0100000 MED12-related intellectual disability syndrome 'MED12-related intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MED12-related intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) 'B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)' SubClassOf 'B-cell acute lymphoblastic leukemia' 'B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)' SubClassOf 'B-cell acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0100009 structural congenital heart disease, multiple types - GATA4 'structural congenital heart disease, multiple types - GATA4' SubClassOf 'congenital heart disease' 'structural congenital heart disease, multiple types - GATA4' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0016297 prelingual non-syndromic genetic hearing loss 'prelingual non-syndromic genetic hearing loss' SubClassOf 'nonsyndromic genetic hearing loss' 'prelingual non-syndromic genetic hearing loss' SubClassOf 'nonsyndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016298 postlingual non-syndromic genetic hearing loss 'postlingual non-syndromic genetic hearing loss' SubClassOf 'nonsyndromic genetic hearing loss' 'postlingual non-syndromic genetic hearing loss' SubClassOf 'nonsyndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016294 Hirschsprung disease-type D brachydactyly syndrome 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'intestinal motility disease' 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'syndromic disease' 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'intestinal motility disease' 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'syndromic disease' 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis 'neuronal ceroid lipofuscinosis' SubClassOf 'inherited neurodegenerative disorder' 'neuronal ceroid lipofuscinosis' SubClassOf 'lysosomal lipid storage disorder' 'neuronal ceroid lipofuscinosis' SubClassOf 'inherited neurodegenerative disorder' 'neuronal ceroid lipofuscinosis' SubClassOf 'lysosomal lipid storage disorder' http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly 'holoprosencephaly' SubClassOf 'congenital nervous system disorder' 'holoprosencephaly' SubClassOf 'syndromic disease' 'holoprosencephaly' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'holoprosencephaly' SubClassOf 'congenital nervous system disorder' 'holoprosencephaly' SubClassOf 'syndromic disease' 'holoprosencephaly' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0005701 malignant rhabdoid tumour 'malignant rhabdoid tumour' SubClassOf 'soft tissue sarcoma' 'malignant rhabdoid tumour' SubClassOf 'embryonal neoplasm' 'malignant rhabdoid tumour' SubClassOf 'soft tissue sarcoma' 'malignant rhabdoid tumour' SubClassOf 'embryonal neoplasm' http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 'fetal akinesia deformation sequence 1' SubClassOf 'fetal akinesia deformation sequence' 'fetal akinesia deformation sequence 1' SubClassOf 'fetal akinesia deformation sequence' http://purl.obolibrary.org/obo/MONDO_0100108 TPM3-related myopathy 'TPM3-related myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'TPM3-related myopathy' SubClassOf 'congenital myopathy' 'TPM3-related myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'TPM3-related myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0041259 diphtheritic myocarditis 'diphtheritic myocarditis' SubClassOf 'diphtheria' 'diphtheritic myocarditis' SubClassOf 'diphtheria' http://www.ebi.ac.uk/efo/EFO_0005716 retinal cancer 'retinal cancer' SubClassOf 'Retinal Neoplasm' 'retinal cancer' SubClassOf 'ocular cancer' 'retinal cancer' SubClassOf 'Retinal Neoplasm' 'retinal cancer' SubClassOf 'ocular cancer' http://www.ebi.ac.uk/efo/EFO_0005717 retinoblastoma (nonhereditary) 'retinoblastoma (nonhereditary)' SubClassOf 'retinoblastoma' 'retinoblastoma (nonhereditary)' SubClassOf 'retinoblastoma' http://www.ebi.ac.uk/efo/EFO_0005761 lupus nephritis 'lupus nephritis' SubClassOf 'glomerulonephritis' 'lupus nephritis' SubClassOf 'glomerulonephritis' http://www.ebi.ac.uk/efo/EFO_0005769 calcium metabolic disease 'calcium metabolic disease' SubClassOf 'mineral metabolism disease' 'calcium metabolic disease' SubClassOf 'disease disrupts' some 'calcium ion homeostasis' 'calcium metabolic disease' SubClassOf 'mineral metabolism disease' 'calcium metabolic disease' SubClassOf 'disease disrupts' some 'calcium ion homeostasis' http://purl.obolibrary.org/obo/MONDO_0041295 acute papillary necrosis 'acute papillary necrosis' SubClassOf 'kidney papillary necrosis' 'acute papillary necrosis' SubClassOf 'kidney papillary necrosis' http://www.ebi.ac.uk/efo/EFO_0005751 eye allergy 'eye allergy' SubClassOf 'eye disease' 'eye allergy' SubClassOf 'allergic disease' 'eye allergy' SubClassOf 'eye disease' 'eye allergy' SubClassOf 'allergic disease' http://www.ebi.ac.uk/efo/EFO_0005754 parathyroid disease 'parathyroid disease' SubClassOf 'endocrine system disease' 'parathyroid disease' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0005755 rheumatic disease 'rheumatic disease' SubClassOf 'connective tissue disease' 'rheumatic disease' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_0005753 ocular vascular disease 'ocular vascular disease' SubClassOf 'eye disease' 'ocular vascular disease' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0005758 cycloplegia 'cycloplegia' SubClassOf 'eye accommodation disease' 'cycloplegia' SubClassOf 'eye accommodation disease' http://www.ebi.ac.uk/efo/EFO_0005783 NUT midline carcinoma 'NUT midline carcinoma' SubClassOf 'undifferentiated carcinoma' 'NUT midline carcinoma' SubClassOf 'undifferentiated carcinoma' http://www.ebi.ac.uk/efo/EFO_0005784 embryonal neoplasm 'embryonal neoplasm' SubClassOf 'neoplasm' 'embryonal neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0005782 age-related hearing impairment 'age-related hearing impairment' SubClassOf 'sensorineural hearing loss' 'age-related hearing impairment' SubClassOf 'sensorineural hearing loss' http://www.ebi.ac.uk/efo/EFO_0005785 blastoma 'blastoma' SubClassOf 'embryonal neoplasm' 'blastoma' SubClassOf 'cancer' 'blastoma' SubClassOf 'embryonal neoplasm' 'blastoma' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_0005772 neurodegenerative disease 'neurodegenerative disease' SubClassOf 'central nervous system disease' 'neurodegenerative disease' SubClassOf 'disease has major feature' some 'Cerebral degeneration' 'neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cerebral degeneration' 'neurodegenerative disease' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0005773 retinal detachment 'retinal detachment' SubClassOf 'retinopathy' 'retinal detachment' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_0005771 ovarian disease 'ovarian disease' SubClassOf 'female reproductive system disease' 'ovarian disease' SubClassOf 'gonadal disorder' 'ovarian disease' SubClassOf 'female reproductive system disease' 'ovarian disease' SubClassOf 'gonadal disorder' http://www.ebi.ac.uk/efo/EFO_0005774 brain disease 'brain disease' SubClassOf 'central nervous system disease' 'brain disease' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0005775 aortic disease 'aortic disease' SubClassOf 'arterial disorder' 'aortic disease' SubClassOf 'arterial disorder' http://www.ebi.ac.uk/efo/EFO_0005799 neonatal abstinence syndrome 'neonatal abstinence syndrome' SubClassOf 'substance withdrawal syndrome' 'neonatal abstinence syndrome' SubClassOf 'substance withdrawal syndrome' http://www.ebi.ac.uk/efo/EFO_0009626 pyloric stenosis 'pyloric stenosis' SubClassOf 'stomach disease' 'pyloric stenosis' SubClassOf 'stomach disease' http://www.ebi.ac.uk/efo/EFO_0009610 cervical spondylosis 'cervical spondylosis' SubClassOf 'genetic disorder' 'cervical spondylosis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009612 jaw fracture 'jaw fracture' SubClassOf 'bone fracture' 'jaw fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0009646 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'syndromic disease' 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'syndromic constitutional thrombocytopenia' 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'inherited bleeding disorder, platelet-type' 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'syndromic disease' 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'syndromic constitutional thrombocytopenia' 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.ebi.ac.uk/efo/EFO_0009666 enthesopathy 'enthesopathy' SubClassOf 'connective tissue disease' 'enthesopathy' SubClassOf 'musculoskeletal system disease' 'enthesopathy' SubClassOf 'connective tissue disease' 'enthesopathy' SubClassOf 'musculoskeletal system disease' http://www.ebi.ac.uk/efo/EFO_0009660 anus disease 'anus disease' SubClassOf 'rectal disease' 'anus disease' SubClassOf 'rectal disease' http://www.ebi.ac.uk/efo/EFO_0009661 bronchitis 'bronchitis' SubClassOf 'bronchial disease' 'bronchitis' SubClassOf 'bronchial disease' http://www.ebi.ac.uk/efo/EFO_0009662 common wart 'common wart' SubClassOf 'benign epithelial skin neoplasm' 'common wart' SubClassOf 'viral disease' 'common wart' SubClassOf 'benign epithelial skin neoplasm' 'common wart' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0009668 external ear disease 'external ear disease' SubClassOf 'auditory system disease' 'external ear disease' SubClassOf 'disorder of ear' 'external ear disease' SubClassOf 'auditory system disease' 'external ear disease' SubClassOf 'disorder of ear' http://www.ebi.ac.uk/efo/EFO_0009670 gingival disease 'gingival disease' SubClassOf 'periodontal disorder' 'gingival disease' SubClassOf 'periodontal disorder' http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder 'Neurodevelopmental disorder' SubClassOf 'nervous system disease' 'Neurodevelopmental disorder' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009650 hyperproinsulinemia 'hyperproinsulinemia' SubClassOf 'genetic disorder' 'hyperproinsulinemia' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009657 acute pharyngitis 'acute pharyngitis' SubClassOf 'pharyngitis' 'acute pharyngitis' SubClassOf 'pharyngitis' http://www.ebi.ac.uk/efo/EFO_0009686 respiratory failure 'respiratory failure' SubClassOf 'lung disease' 'respiratory failure' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0009687 somatoform disorder 'somatoform disorder' SubClassOf 'psychiatric disorder' 'somatoform disorder' SubClassOf 'psychiatric disorder' http://www.ebi.ac.uk/efo/EFO_0009689 urethral disease 'urethral disease' SubClassOf 'urinary system disease' 'urethral disease' SubClassOf 'urinary system disease' http://www.ebi.ac.uk/efo/EFO_0009682 pregnancy disorder 'pregnancy disorder' SubClassOf 'obstetric disorder' 'pregnancy disorder' SubClassOf 'obstetric disorder' http://www.ebi.ac.uk/efo/EFO_0009683 puerperal disorder 'puerperal disorder' SubClassOf 'obstetric disorder' 'puerperal disorder' SubClassOf 'obstetric disorder' http://www.ebi.ac.uk/efo/EFO_0009684 quadriplegia 'quadriplegia' SubClassOf 'palsy' 'quadriplegia' SubClassOf 'palsy' http://www.ebi.ac.uk/efo/EFO_0009691 vestibular disease 'vestibular disease' SubClassOf 'inner ear disease' 'vestibular disease' SubClassOf 'inner ear disease' http://www.ebi.ac.uk/efo/EFO_0009692 voice disorders 'voice disorders' SubClassOf 'laryngeal disease' 'voice disorders' SubClassOf 'laryngeal disease' http://www.ebi.ac.uk/efo/EFO_0009677 occlusion precerebral artery 'occlusion precerebral artery' SubClassOf 'cerebrovascular disorder' 'occlusion precerebral artery' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0009671 hereditary ataxia 'hereditary ataxia' SubClassOf 'atactic disorder' 'hereditary ataxia' SubClassOf 'atactic disorder' http://www.ebi.ac.uk/efo/EFO_0009672 inner ear disease 'inner ear disease' SubClassOf 'auditory system disease' 'inner ear disease' SubClassOf 'disease has location' some 'internal ear' 'inner ear disease' SubClassOf 'disorder of ear' 'inner ear disease' SubClassOf 'auditory system disease' 'inner ear disease' SubClassOf 'disease has location' some 'internal ear' 'inner ear disease' SubClassOf 'disorder of ear' http://www.ebi.ac.uk/efo/EFO_0009673 laryngeal disease 'laryngeal disease' SubClassOf 'upper respiratory tract disorder' 'laryngeal disease' SubClassOf 'upper respiratory tract disorder' http://www.ebi.ac.uk/efo/EFO_0009674 lens disease 'lens disease' SubClassOf 'eye disease' 'lens disease' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0009679 paraplegia 'paraplegia' SubClassOf 'palsy' 'paraplegia' SubClassOf 'palsy' http://www.ebi.ac.uk/efo/EFO_0009680 pleural empyema 'pleural empyema' SubClassOf 'pleural disorder' 'pleural empyema' SubClassOf 'pleural disorder' http://purl.obolibrary.org/obo/MONDO_0012605 isolated microphthalmia 5 'isolated microphthalmia 5' SubClassOf 'isolated microphthalmia' 'isolated microphthalmia 5' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 'neuronopathy, distal hereditary motor, autosomal recessive 4' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 4' SubClassOf 'spinal muscular atrophy' 'neuronopathy, distal hereditary motor, autosomal recessive 4' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 4' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/GO_1901360 organic cyclic compound metabolic process 'organic cyclic compound metabolic process' SubClassOf 'organic substance metabolic process' 'organic cyclic compound metabolic process' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/GO_1901362 organic cyclic compound biosynthetic process 'organic cyclic compound biosynthetic process' SubClassOf 'organic cyclic compound metabolic process' 'organic cyclic compound biosynthetic process' SubClassOf 'organic substance biosynthetic process' 'organic cyclic compound biosynthetic process' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf 'monogenic epilepsy' 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0012626 Meckel syndrome, type 4 'Meckel syndrome, type 4' SubClassOf 'Meckel syndrome' 'Meckel syndrome, type 4' SubClassOf 'CEP290-related ciliopathy' 'Meckel syndrome, type 4' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Meckel syndrome, type 4' SubClassOf 'Meckel syndrome' 'Meckel syndrome, type 4' SubClassOf 'CEP290-related ciliopathy' 'Meckel syndrome, type 4' SubClassOf 'polydactyly-syndactyly-triphalangism' http://purl.obolibrary.org/obo/MONDO_0012624 acyl-CoA dehydrogenase 9 deficiency 'acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'acyl-CoA dehydrogenase 9 deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0012625 retinitis pigmentosa 37 'retinitis pigmentosa 37' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 37' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0012622 leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 'leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome' SubClassOf 'leukodystrophy' 'leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0012621 deafness-infertility syndrome 'deafness-infertility syndrome' SubClassOf 'syndromic disease' 'deafness-infertility syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' 'deafness-infertility syndrome' SubClassOf 'syndromic disease' 'deafness-infertility syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation 'COG1-congenital disorder of glycosylation' SubClassOf 'syndromic disease' 'COG1-congenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG1-congenital disorder of glycosylation' SubClassOf 'syndromic disease' 'COG1-congenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0012638 microphthalmia-brain atrophy syndrome 'microphthalmia-brain atrophy syndrome' SubClassOf 'inherited neurodegenerative disorder' 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic microphthalmia' 'microphthalmia-brain atrophy syndrome' SubClassOf 'inherited neurodegenerative disorder' 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012635 COG8-congenital disorder of glycosylation 'COG8-congenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG8-congenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0012634 craniofacial dysplasia - osteopenia syndrome 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'disorder of development or morphogenesis' 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0012648 isobutyryl-CoA dehydrogenase deficiency 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'classic organic aciduria' 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0012640 Charcot-Marie-Tooth disease type 4J 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4J' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0012643 hereditary spastic paraplegia 32 'hereditary spastic paraplegia 32' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 32' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012659 age related macular degeneration 9 'age related macular degeneration 9' SubClassOf 'age-related macular degeneration' 'age related macular degeneration 9' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0012657 Mungan syndrome 'Mungan syndrome' SubClassOf 'genetic disorder' 'Mungan syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012658 brachydactyly type B2 'brachydactyly type B2' SubClassOf 'NOG-related symphalangism spectrum disorder' 'brachydactyly type B2' SubClassOf 'brachydactyly type B' 'brachydactyly type B2' SubClassOf 'NOG-related symphalangism spectrum disorder' 'brachydactyly type B2' SubClassOf 'brachydactyly type B' http://purl.obolibrary.org/obo/MONDO_0012651 spastic ataxia 2 'spastic ataxia 2' SubClassOf 'spastic ataxia' 'spastic ataxia 2' SubClassOf 'complex hereditary spastic paraplegia' 'spastic ataxia 2' SubClassOf 'spastic ataxia' 'spastic ataxia 2' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012652 autosomal recessive limb-girdle muscular dystrophy type 2L 'autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2L' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0012650 Cernunnos-XLF deficiency 'Cernunnos-XLF deficiency' SubClassOf 'familial severe combined immunodeficiency' 'Cernunnos-XLF deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'Cernunnos-XLF deficiency' SubClassOf 'familial severe combined immunodeficiency' 'Cernunnos-XLF deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012656 lethal congenital contracture syndrome 3 'lethal congenital contracture syndrome 3' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 3' SubClassOf 'lethal congenital contracture syndrome' 'lethal congenital contracture syndrome 3' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 3' SubClassOf 'lethal congenital contracture syndrome' http://purl.obolibrary.org/obo/MONDO_0012669 Legius syndrome 'Legius syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Legius syndrome' SubClassOf 'hyperpigmentation of the skin' 'Legius syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Legius syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0012662 Usher syndrome type 2D 'Usher syndrome type 2D' SubClassOf 'Usher syndrome type 2' 'Usher syndrome type 2D' SubClassOf 'Usher syndrome type 2' http://purl.obolibrary.org/obo/MONDO_0012667 dilated cardiomyopathy 1W 'dilated cardiomyopathy 1W' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1W' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012664 spastic ataxia 3 'spastic ataxia 3' SubClassOf 'autosomal recessive spastic ataxia' 'spastic ataxia 3' SubClassOf 'autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0012665 cataract 33 'cataract 33' SubClassOf 'early-onset non-syndromic cataract' 'cataract 33' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0012675 corticosteroid-binding globulin deficiency 'corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease' 'corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0012676 autosomal recessive osteopetrosis 4 'autosomal recessive osteopetrosis 4' SubClassOf 'autosomal recessive osteopetrosis' 'autosomal recessive osteopetrosis 4' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0012670 autosomal recessive nonsyndromic hearing loss 63 'autosomal recessive nonsyndromic hearing loss 63' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 63' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0012684 arrhythmogenic right ventricular dysplasia 12 'arrhythmogenic right ventricular dysplasia 12' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 12' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0012682 immunodeficiency 35 'immunodeficiency 35' SubClassOf 'immunodeficiency disease' 'immunodeficiency 35' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0012683 pontocerebellar hypoplasia type 6 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0012687 familial cavitary optic disk anomaly 'familial cavitary optic disk anomaly' SubClassOf 'eye disease' 'familial cavitary optic disk anomaly' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0012699 autosomal recessive limb-girdle muscular dystrophy type 2M 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'myopathy caused by variation in FKTN' 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'myopathy caused by variation in FKTN' http://purl.obolibrary.org/obo/MONDO_0012698 Waardenburg syndrome type 2E 'Waardenburg syndrome type 2E' SubClassOf 'Waardenburg syndrome type 2' 'Waardenburg syndrome type 2E' SubClassOf 'Waardenburg syndrome type 2' http://www.ebi.ac.uk/efo/EFO_0009601 testicular disease 'testicular disease' SubClassOf 'male reproductive system disease' 'testicular disease' SubClassOf 'gonadal disorder' 'testicular disease' SubClassOf 'male reproductive system disease' 'testicular disease' SubClassOf 'gonadal disorder' http://purl.obolibrary.org/obo/MONDO_0022057 calcifying epithelial odontogenic tumor 'calcifying epithelial odontogenic tumor' SubClassOf 'skin neoplasm' 'calcifying epithelial odontogenic tumor' SubClassOf 'odontogenic neoplasm' 'calcifying epithelial odontogenic tumor' SubClassOf 'skin neoplasm' 'calcifying epithelial odontogenic tumor' SubClassOf 'odontogenic neoplasm' http://www.ebi.ac.uk/efo/EFO_0009606 macular degeneration 'macular degeneration' SubClassOf 'retinal degeneration' 'macular degeneration' SubClassOf 'retinal degeneration' http://www.ebi.ac.uk/efo/EFO_0009607 pituitary gland disease 'pituitary gland disease' SubClassOf 'brain disease' 'pituitary gland disease' SubClassOf 'endocrine system disease' 'pituitary gland disease' SubClassOf 'brain disease' 'pituitary gland disease' SubClassOf 'endocrine system disease' http://www.ebi.ac.uk/efo/EFO_0009608 stomach disease 'stomach disease' SubClassOf 'digestive system disease' 'stomach disease' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0009609 myocarditis 'myocarditis' SubClassOf 'intrinsic cardiomyopathy' 'myocarditis' SubClassOf 'intrinsic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0009602 prostate disease 'prostate disease' SubClassOf 'male reproductive system disease' 'prostate disease' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009604 labyrinthitis 'labyrinthitis' SubClassOf 'inner ear disease' 'labyrinthitis' SubClassOf 'inflammatory disease' 'labyrinthitis' SubClassOf 'inner ear disease' 'labyrinthitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0009605 pancreas disease 'pancreas disease' SubClassOf 'digestive system disease' 'pancreas disease' SubClassOf 'endocrine system disease' 'pancreas disease' SubClassOf 'digestive system disease' 'pancreas disease' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0036696 spleen neoplasm 'spleen neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'spleen neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/MONDO_0036688 rhabdomyoma 'rhabdomyoma' SubClassOf 'benign muscle neoplasm' 'rhabdomyoma' SubClassOf 'benign muscle neoplasm' http://www.ebi.ac.uk/efo/EFO_0009529 anemia due to enzyme disorder 'anemia due to enzyme disorder' SubClassOf 'anemia' 'anemia due to enzyme disorder' SubClassOf 'anemia' http://www.ebi.ac.uk/efo/EFO_0009528 AIDS-related disease 'AIDS-related disease' SubClassOf 'immunodeficiency-related disorder' 'AIDS-related disease' SubClassOf 'immunodeficiency-related disorder' http://purl.obolibrary.org/obo/MONDO_0036484 Charcot-Marie-Tooth disease, dominant intermediate G 'Charcot-Marie-Tooth disease, dominant intermediate G' SubClassOf 'intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease, dominant intermediate G' SubClassOf 'intermediate Charcot-Marie-Tooth disease' http://www.ebi.ac.uk/efo/EFO_0009544 esophageal disease 'esophageal disease' SubClassOf 'digestive system disease' 'esophageal disease' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0009545 esophageal varices 'esophageal varices' SubClassOf 'esophageal disease' 'esophageal varices' SubClassOf 'esophageal disease' http://www.ebi.ac.uk/efo/EFO_0009546 eye adnexa disease 'eye adnexa disease' SubClassOf 'disease of orbital region' 'eye adnexa disease' SubClassOf 'disease of orbital region' http://www.ebi.ac.uk/efo/EFO_0009540 dental pulp disease 'dental pulp disease' SubClassOf 'tooth disease' 'dental pulp disease' SubClassOf 'tooth disease' http://www.ebi.ac.uk/efo/EFO_0009547 eyelid disease 'eyelid disease' SubClassOf 'eye disease' 'eyelid disease' SubClassOf 'eye adnexa disease' 'eyelid disease' SubClassOf 'eye disease' 'eyelid disease' SubClassOf 'eye adnexa disease' http://www.ebi.ac.uk/efo/EFO_0009548 fallopian tube disease 'fallopian tube disease' SubClassOf 'female reproductive system disease' 'fallopian tube disease' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009549 female reproductive system disease 'female reproductive system disease' SubClassOf 'reproductive system disease' 'female reproductive system disease' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009532 autonomic nervous system disease 'autonomic nervous system disease' SubClassOf 'peripheral nervous system disease' 'autonomic nervous system disease' SubClassOf 'central nervous system disease' 'autonomic nervous system disease' SubClassOf 'disease has major feature' some 'Abnormal autonomic nervous system physiology' 'autonomic nervous system disease' SubClassOf 'peripheral nervous system disease' 'autonomic nervous system disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal autonomic nervous system physiology' 'autonomic nervous system disease' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009533 basal ganglia disease 'basal ganglia disease' SubClassOf 'brain disease' 'basal ganglia disease' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0009534 biliary tract disease 'biliary tract disease' SubClassOf 'hepatobiliary disease' 'biliary tract disease' SubClassOf 'hepatobiliary disease' http://www.ebi.ac.uk/efo/EFO_0009535 binocular vision disease 'binocular vision disease' SubClassOf 'vision disorder' 'binocular vision disease' SubClassOf 'vision disorder' http://www.ebi.ac.uk/efo/EFO_0009530 anuria 'anuria' SubClassOf 'kidney disease' 'anuria' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0009531 aortic valve disease 'aortic valve disease' SubClassOf 'heart valve disease' 'aortic valve disease' SubClassOf 'aortic disease' 'aortic valve disease' SubClassOf 'heart valve disease' 'aortic valve disease' SubClassOf 'aortic disease' http://www.ebi.ac.uk/efo/EFO_0009536 blepharitis 'blepharitis' SubClassOf 'inflammatory disease' 'blepharitis' SubClassOf 'eyelid disease' 'blepharitis' SubClassOf 'inflammatory disease' 'blepharitis' SubClassOf 'eyelid disease' http://www.ebi.ac.uk/efo/EFO_0009537 cervical disc degenerative disorder 'cervical disc degenerative disorder' SubClassOf 'lumbar disc degeneration' 'cervical disc degenerative disorder' SubClassOf 'lumbar disc degeneration' http://www.ebi.ac.uk/efo/EFO_0009538 chronic inflammatory demyelinating polyneuropathy 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'Guillain-Barre syndrome' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'Guillain-Barre syndrome' http://www.ebi.ac.uk/efo/EFO_0009539 congenital mitral malformation 'congenital mitral malformation' SubClassOf 'congenital heart malformation' 'congenital mitral malformation' SubClassOf 'congenital heart malformation' http://www.ebi.ac.uk/efo/EFO_0009567 Spirochaetales Infections 'Spirochaetales Infections' SubClassOf 'bacterial disease' 'Spirochaetales Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0009568 tricuspid valve disease 'tricuspid valve disease' SubClassOf 'heart valve disease' 'tricuspid valve disease' SubClassOf 'heart valve disease' http://www.ebi.ac.uk/efo/EFO_0009561 parasitic intestinal disease 'parasitic intestinal disease' SubClassOf 'parasitic infection' 'parasitic intestinal disease' SubClassOf 'intestinal disease' 'parasitic intestinal disease' SubClassOf 'parasitic infection' 'parasitic intestinal disease' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0009562 polyneuropathy 'polyneuropathy' SubClassOf 'peripheral neuropathy' 'polyneuropathy' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009563 protein energy malnutrition 'protein energy malnutrition' SubClassOf 'nutritional deficiency disease' 'protein energy malnutrition' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_0009564 pulmonary valve disease 'pulmonary valve disease' SubClassOf 'heart valve disease' 'pulmonary valve disease' SubClassOf 'heart valve disease' http://www.ebi.ac.uk/efo/EFO_0009569 trigeminal nerve disease 'trigeminal nerve disease' SubClassOf 'cranial nerve neuropathy' 'trigeminal nerve disease' SubClassOf 'peripheral nervous system disease' 'trigeminal nerve disease' SubClassOf 'cranial nerve neuropathy' 'trigeminal nerve disease' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009570 tympanic membrane disease 'tympanic membrane disease' SubClassOf 'middle ear disorder' 'tympanic membrane disease' SubClassOf 'middle ear disorder' http://www.ebi.ac.uk/efo/EFO_0009571 urinary tract obstruction 'urinary tract obstruction' SubClassOf 'urinary system disease' 'urinary tract obstruction' SubClassOf 'urinary system disease' http://www.ebi.ac.uk/efo/EFO_0009555 male reproductive system disease 'male reproductive system disease' SubClassOf 'reproductive system disease' 'male reproductive system disease' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0009556 mineral metabolism disease 'mineral metabolism disease' SubClassOf 'metabolic disease' 'mineral metabolism disease' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0009557 mitral valve disease 'mitral valve disease' SubClassOf 'heart valve disease' 'mitral valve disease' SubClassOf 'heart valve disease' http://www.ebi.ac.uk/efo/EFO_0009550 headache disorder 'headache disorder' SubClassOf 'neurological pain disorder' 'headache disorder' SubClassOf 'disease has major feature' some 'Headache' 'headache disorder' EquivalentTo 'neurological pain disorder' and ('disease has major feature' some 'Headache') 'headache disorder' SubClassOf 'neurological pain disorder' 'headache disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Headache' 'headache disorder' EquivalentTo 'neurological pain disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Headache') http://www.ebi.ac.uk/efo/EFO_0009551 heart valve disease 'heart valve disease' SubClassOf 'heart disease' 'heart valve disease' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_0009552 hemorrhoid 'hemorrhoid' SubClassOf 'pelvic varices' 'hemorrhoid' SubClassOf 'pelvic varices' http://www.ebi.ac.uk/efo/EFO_0009553 HIV-associated cancer 'HIV-associated cancer' SubClassOf 'virus associated tumor' 'HIV-associated cancer' SubClassOf 'virus associated tumor' http://www.ebi.ac.uk/efo/EFO_0009558 mononeuropathy 'mononeuropathy' SubClassOf 'peripheral neuropathy' 'mononeuropathy' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0009560 otitis externa 'otitis externa' SubClassOf 'external ear disease' 'otitis externa' SubClassOf 'ear infection' 'otitis externa' SubClassOf 'external ear disease' 'otitis externa' SubClassOf 'ear infection' http://www.ebi.ac.uk/efo/EFO_0009572 uterine inflammatory disease 'uterine inflammatory disease' SubClassOf 'uterine disorder' 'uterine inflammatory disease' SubClassOf 'uterine disorder' http://www.ebi.ac.uk/efo/EFO_0010580 blastic plasmacytoid dendritic cell neoplasm 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'T-cell non-Hodgkin lymphoma' 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'myeloid neoplasm' 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'skin cancer' 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'T-cell non-Hodgkin lymphoma' 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'myeloid neoplasm' 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/GO_1901576 organic substance biosynthetic process 'organic substance biosynthetic process' SubClassOf 'biosynthetic process' 'organic substance biosynthetic process' SubClassOf 'organic substance metabolic process' 'organic substance biosynthetic process' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process 'organonitrogen compound metabolic process' SubClassOf 'organic substance metabolic process' 'organonitrogen compound metabolic process' SubClassOf 'metabolic process' http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process 'organonitrogen compound biosynthetic process' SubClassOf 'organic substance biosynthetic process' 'organonitrogen compound biosynthetic process' SubClassOf 'biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0012503 thiopurine S-methyltransferase deficiency 'thiopurine S-methyltransferase deficiency' SubClassOf 'thiopurine metabolic disease' 'thiopurine S-methyltransferase deficiency' SubClassOf 'thiopurine metabolic disease' http://purl.obolibrary.org/obo/MONDO_0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf 'autosomal genetic disease' 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf 'FGFR3-related chondrodysplasia' 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf 'autosomal genetic disease' 'camptodactyly-tall stature-scoliosis-hearing loss syndrome' SubClassOf 'FGFR3-related chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0012509 pigmented nodular adrenocortical disease, primary, 1 'pigmented nodular adrenocortical disease, primary, 1' SubClassOf 'primary pigmented nodular adrenocortical disease' 'pigmented nodular adrenocortical disease, primary, 1' SubClassOf 'primary pigmented nodular adrenocortical disease' http://purl.obolibrary.org/obo/MONDO_0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'syndromic agammaglobulinemia' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'syndromic agammaglobulinemia' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012502 normophosphatemic familial tumoral calcinosis 'normophosphatemic familial tumoral calcinosis' SubClassOf 'familial tumoral calcinosis' 'normophosphatemic familial tumoral calcinosis' SubClassOf 'familial tumoral calcinosis' http://purl.obolibrary.org/obo/MONDO_0012500 chilblain lupus 1 'chilblain lupus 1' SubClassOf 'familial chilblain lupus' 'chilblain lupus 1' SubClassOf 'TREX1-related type 1 interferonopathy' 'chilblain lupus 1' SubClassOf 'familial chilblain lupus' 'chilblain lupus 1' SubClassOf 'TREX1-related type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0012516 mandibulofacial dysostosis-microcephaly syndrome 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'autosomal dominant disease' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'acrofacial dysostosis' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'acrofacial dysostosis' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'autosomal dominant disease' 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012517 Gaucher disease due to saposin C deficiency 'Gaucher disease due to saposin C deficiency' SubClassOf 'PSAP-related sphingolipidosis' 'Gaucher disease due to saposin C deficiency' SubClassOf 'PSAP-related sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0012514 hypomyelinating leukodystrophy 5 'hypomyelinating leukodystrophy 5' SubClassOf 'leukodystrophy' 'hypomyelinating leukodystrophy 5' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 'fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3' SubClassOf 'combined oxidative phosphorylation deficiency' 'fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012510 combined oxidative phosphorylation defect type 2 'combined oxidative phosphorylation defect type 2' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 2' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012511 preterm premature rupture of the membranes 'preterm premature rupture of the membranes' SubClassOf 'genetic disorder' 'preterm premature rupture of the membranes' SubClassOf 'female reproductive system disease' 'preterm premature rupture of the membranes' SubClassOf 'genetic disorder' 'preterm premature rupture of the membranes' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0012520 insulin-resistance syndrome type A 'insulin-resistance syndrome type A' SubClassOf 'endocrine pancreas disorder' 'insulin-resistance syndrome type A' SubClassOf 'endocrine pancreas disorder' http://purl.obolibrary.org/obo/MONDO_0012524 corticosterone methyloxidase type 2 deficiency 'corticosterone methyloxidase type 2 deficiency' SubClassOf 'familial hypoaldosteronism' 'corticosterone methyloxidase type 2 deficiency' SubClassOf 'familial hypoaldosteronism' http://purl.obolibrary.org/obo/MONDO_0012521 herpes simplex encephalitis 'herpes simplex encephalitis' SubClassOf 'viral encephalitis' 'herpes simplex encephalitis' SubClassOf 'viral encephalitis' http://purl.obolibrary.org/obo/MONDO_0012522 diabetes mellitus, transient neonatal, 3 'diabetes mellitus, transient neonatal, 3' SubClassOf 'transient neonatal diabetes mellitus' 'diabetes mellitus, transient neonatal, 3' SubClassOf 'transient neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0012538 nemaline myopathy 7 'nemaline myopathy 7' SubClassOf 'typical nemaline myopathy' 'nemaline myopathy 7' SubClassOf 'typical nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0012539 Joubert syndrome 6 'Joubert syndrome 6' SubClassOf 'Joubert syndrome' 'Joubert syndrome 6' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0012530 palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 'palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf '46,XX disorder of sex development' 'palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf '46,XX disorder of sex development' 'palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0012531 xeroderma pigmentosum group B 'xeroderma pigmentosum group B' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group B' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' 'xeroderma pigmentosum group B' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group B' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' http://purl.obolibrary.org/obo/MONDO_0012534 combined oxidative phosphorylation defect type 4 'combined oxidative phosphorylation defect type 4' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 4' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type 'autosomal recessive ataxia, Beauce type' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive ataxia, Beauce type' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0012548 Kostmann syndrome 'Kostmann syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Kostmann syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0012541 deafness with labyrinthine aplasia, microtia, and microdontia 'deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'genetic disorder' 'deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0036511 childhood malignant kidney neoplasm 'childhood malignant kidney neoplasm' SubClassOf 'kidney cancer' 'childhood malignant kidney neoplasm' SubClassOf 'childhood cancer' 'childhood malignant kidney neoplasm' SubClassOf 'childhood kidney neoplasm' 'childhood malignant kidney neoplasm' SubClassOf 'kidney cancer' 'childhood malignant kidney neoplasm' SubClassOf 'childhood cancer' 'childhood malignant kidney neoplasm' SubClassOf 'childhood kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0012540 age related macular degeneration 4 'age related macular degeneration 4' SubClassOf 'age-related macular degeneration' 'age related macular degeneration 4' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy 'neutral lipid storage myopathy' SubClassOf 'neutral lipid storage disease' 'neutral lipid storage myopathy' SubClassOf 'neutral lipid storage disease' http://purl.obolibrary.org/obo/MONDO_0012544 brachydactyly-syndactyly syndrome 'brachydactyly-syndactyly syndrome' SubClassOf 'skeletal system disease' 'brachydactyly-syndactyly syndrome' SubClassOf 'autosomal genetic disease' 'brachydactyly-syndactyly syndrome' SubClassOf 'skeletal system disease' 'brachydactyly-syndactyly syndrome' SubClassOf 'autosomal genetic disease' http://purl.obolibrary.org/obo/MONDO_0012559 primary immunodeficiency syndrome due to p14 deficiency 'primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'constitutional neutropenia' 'primary immunodeficiency syndrome due to p14 deficiency' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0012552 multiple endocrine neoplasia type 4 'multiple endocrine neoplasia type 4' SubClassOf 'autosomal dominant disease' 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 4' SubClassOf 'autosomal dominant disease' 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia' http://purl.obolibrary.org/obo/MONDO_0012553 cerebrooculofacioskeletal syndrome 2 'cerebrooculofacioskeletal syndrome 2' SubClassOf 'COFS syndrome' 'cerebrooculofacioskeletal syndrome 2' SubClassOf 'COFS syndrome' http://purl.obolibrary.org/obo/MONDO_0036501 refractory malignant neoplasm 'refractory malignant neoplasm' SubClassOf 'cancer' 'refractory malignant neoplasm' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0012556 DK1-congenital disorder of glycosylation 'DK1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'DK1-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'DK1-congenital disorder of glycosylation' SubClassOf 'syndromic disease' 'DK1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'DK1-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'DK1-congenital disorder of glycosylation' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'autosomal recessive disease' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'mitochondrial substrate carrier disorder' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'lactic acidosis' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'autosomal recessive disease' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'mitochondrial substrate carrier disorder' 'cardiomyopathy-hypotonia-lactic acidosis syndrome' SubClassOf 'lactic acidosis' http://purl.obolibrary.org/obo/MONDO_0012569 mitral valve prolapse, myxomatous 3 'mitral valve prolapse, myxomatous 3' SubClassOf 'familial mitral valve prolapse' 'mitral valve prolapse, myxomatous 3' SubClassOf 'familial mitral valve prolapse' http://purl.obolibrary.org/obo/MONDO_0012561 congenital anomalies of kidney and urinary tract 1 'congenital anomalies of kidney and urinary tract 1' SubClassOf 'congenital anomaly of kidney and urinary tract' 'congenital anomalies of kidney and urinary tract 1' SubClassOf 'congenital anomaly of kidney and urinary tract' http://purl.obolibrary.org/obo/MONDO_0012565 Fanconi anemia complementation group N 'Fanconi anemia complementation group N' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group N' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0012574 Potocki-Lupski syndrome 'Potocki-Lupski syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17' 'Potocki-Lupski syndrome' SubClassOf 'syndromic disease' 'Potocki-Lupski syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17' 'Potocki-Lupski syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012579 autoimmune pulmonary alveolar proteinosis 'autoimmune pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' 'autoimmune pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'hereditary skin disorder' 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease shares features of' some 'pseudoxanthoma elasticum (inherited or acquired)' 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'hereditary skin disorder' 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'pseudoxanthoma elasticum (inherited or acquired)' http://purl.obolibrary.org/obo/MONDO_0012585 coronary heart disease, susceptibility to, 7 'coronary heart disease, susceptibility to, 7' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary heart disease, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0012586 coronary artery disease, autosomal dominant 2 'coronary artery disease, autosomal dominant 2' SubClassOf 'coronary artery disease' 'coronary artery disease, autosomal dominant 2' SubClassOf 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0012584 systemic lupus erythematosus, susceptibility to, 9 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome 'Pitt-Hopkins syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pitt-Hopkins syndrome' SubClassOf 'syndromic disease' 'Pitt-Hopkins syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pitt-Hopkins syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 'neuronal ceroid lipofuscinosis 7' SubClassOf 'neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 7' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 7' SubClassOf 'neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 7' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0012580 hereditary pulmonary alveolar proteinosis 'hereditary pulmonary alveolar proteinosis' SubClassOf 'genetic disorder' 'hereditary pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' 'hereditary pulmonary alveolar proteinosis' SubClassOf 'genetic disorder' 'hereditary pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0012596 PSAT deficiency 'PSAT deficiency' SubClassOf 'neurometabolic disorder due to serine deficiency' 'PSAT deficiency' SubClassOf 'neurometabolic disorder due to serine deficiency' http://purl.obolibrary.org/obo/MONDO_0012594 complement factor I deficiency 'complement factor I deficiency' SubClassOf 'complement deficiency' 'complement factor I deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0012593 brain-lung-thyroid syndrome 'brain-lung-thyroid syndrome' SubClassOf 'endocrine system disease' 'brain-lung-thyroid syndrome' SubClassOf 'syndromic disease' 'brain-lung-thyroid syndrome' SubClassOf 'endocrine system disease' 'brain-lung-thyroid syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012590 XFE progeroid syndrome 'XFE progeroid syndrome' SubClassOf 'syndromic disease' 'XFE progeroid syndrome' SubClassOf 'genetic disorder' 'XFE progeroid syndrome' SubClassOf 'syndromic disease' 'XFE progeroid syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012591 osteogenesis imperfecta type 5 'osteogenesis imperfecta type 5' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'osteogenesis imperfecta type 5' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome 'osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf 'inherited primary ovarian failure' 'osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf 'syndromic disease' 'osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf 'inherited primary ovarian failure' 'osteosclerosis-ichthyosis-premature ovarian failure syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'immunodeficiency disease' 'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0012381 hyperinsulinism due to INSR deficiency 'hyperinsulinism due to INSR deficiency' SubClassOf 'familial hyperinsulinism' 'hyperinsulinism due to INSR deficiency' SubClassOf 'familial hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0012382 hyperinsulinemic hypoglycemia, familial, 4 'hyperinsulinemic hypoglycemia, familial, 4' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'hyperinsulinemic hypoglycemia, familial, 4' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0012399 complex cortical dysplasia with other brain malformations 7 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'complex cortical dysplasia with other brain malformations' 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'bilateral frontal polymicrogyria' 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'bilateral frontal polymicrogyria' 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'complex cortical dysplasia with other brain malformations' http://purl.obolibrary.org/obo/MONDO_0012396 exercise-induced hyperinsulinism 'exercise-induced hyperinsulinism' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'exercise-induced hyperinsulinism' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'exercise-induced hyperinsulinism' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'exercise-induced hyperinsulinism' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'monogenic epilepsy' 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'progressive myoclonus epilepsy' 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'monogenic epilepsy' 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0012394 multiple synostoses syndrome 2 'multiple synostoses syndrome 2' SubClassOf 'multiple synostoses syndrome' 'multiple synostoses syndrome 2' SubClassOf 'multiple synostoses syndrome' http://purl.obolibrary.org/obo/MONDO_0012392 2-methylbutyryl-CoA dehydrogenase deficiency '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'classic organic aciduria' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0012393 congenital brain dysgenesis due to glutamine synthetase deficiency 'congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'disorder of glutamine metabolism' 'congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'disorder of glutamine metabolism' http://purl.obolibrary.org/obo/MONDO_0012407 pyridoxal phosphate-responsive seizures 'pyridoxal phosphate-responsive seizures' SubClassOf 'metabolic epilepsy' 'pyridoxal phosphate-responsive seizures' SubClassOf 'inborn disorder of pyridoxine metabolism' 'pyridoxal phosphate-responsive seizures' SubClassOf 'disease responds to' some 'pyridoxal 5'-phosphate' 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and ('disease responds to' some 'pyridoxal 5'-phosphate') 'pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'pyridoxal 5'-phosphate' 'pyridoxal phosphate-responsive seizures' SubClassOf 'metabolic epilepsy' 'pyridoxal phosphate-responsive seizures' SubClassOf 'inborn disorder of pyridoxine metabolism' 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'pyridoxal 5'-phosphate') http://purl.obolibrary.org/obo/MONDO_0012402 opioid dependence, susceptibility to, 1 'opioid dependence, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'opioid dependence, susceptibility to, 1' SubClassOf 'predisposes towards' some 'opioid dependence' 'opioid dependence, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'opioid dependence, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'opioid dependence' http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'syndromic disease' 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'Pitt-Hopkins-like syndrome' 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'syndromic disease' 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'Pitt-Hopkins-like syndrome' http://purl.obolibrary.org/obo/MONDO_0012401 congenital stromal corneal dystrophy 'congenital stromal corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'congenital stromal corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0012417 heart-hand syndrome, Slovenian type 'heart-hand syndrome, Slovenian type' SubClassOf 'heart-hand syndrome' 'heart-hand syndrome, Slovenian type' SubClassOf 'heart-hand syndrome' http://purl.obolibrary.org/obo/MONDO_0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' http://purl.obolibrary.org/obo/MONDO_0012419 age related macular degeneration 7 'age related macular degeneration 7' SubClassOf 'age-related macular degeneration' 'age related macular degeneration 7' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0012410 Finnish upper limb-onset distal myopathy 'Finnish upper limb-onset distal myopathy' SubClassOf 'autosomal dominant distal myopathy' 'Finnish upper limb-onset distal myopathy' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0012413 syndromic microphthalmia type 5 'syndromic microphthalmia type 5' SubClassOf 'syndromic microphthalmia' 'syndromic microphthalmia type 5' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012414 neuronal ceroid lipofuscinosis 10 'neuronal ceroid lipofuscinosis 10' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 10' SubClassOf 'adult neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 10' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 10' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 10' SubClassOf 'adult neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 10' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0012411 giant axonal neuropathy 2 'giant axonal neuropathy 2' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'giant axonal neuropathy 2' SubClassOf 'giant axonal neuropathy' 'giant axonal neuropathy 2' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'giant axonal neuropathy 2' SubClassOf 'giant axonal neuropathy' http://purl.obolibrary.org/obo/MONDO_0012426 immunodeficiency 25 'immunodeficiency 25' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' 'immunodeficiency 25' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' http://purl.obolibrary.org/obo/MONDO_0012423 MORM syndrome 'MORM syndrome' SubClassOf 'genetic disorder' 'MORM syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012439 Alagille syndrome due to a NOTCH2 point mutation 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf 'Alagille syndrome' 'Alagille syndrome due to a NOTCH2 point mutation' SubClassOf 'Alagille syndrome' http://purl.obolibrary.org/obo/MONDO_0012438 pontocerebellar hypoplasia type 5 'pontocerebellar hypoplasia type 5' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 5' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0012431 diaphragmatic hernia 3 'diaphragmatic hernia 3' SubClassOf 'congenital diaphragmatic hernia' 'diaphragmatic hernia 3' SubClassOf 'congenital diaphragmatic hernia' http://purl.obolibrary.org/obo/MONDO_0012432 Joubert syndrome 5 'Joubert syndrome 5' SubClassOf 'Joubert syndrome with oculorenal defect' 'Joubert syndrome 5' SubClassOf 'Joubert syndrome' 'Joubert syndrome 5' SubClassOf 'CEP290-related ciliopathy' 'Joubert syndrome 5' SubClassOf 'Joubert syndrome with oculorenal defect' 'Joubert syndrome 5' SubClassOf 'Joubert syndrome' 'Joubert syndrome 5' SubClassOf 'CEP290-related ciliopathy' http://purl.obolibrary.org/obo/MONDO_0012435 3-methylglutaconic aciduria type 5 '3-methylglutaconic aciduria type 5' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' '3-methylglutaconic aciduria type 5' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 5' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012436 neonatal diabetes mellitus with congenital hypothyroidism 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'neonatal diabetes mellitus' 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0012433 Senior-Loken syndrome 6 'Senior-Loken syndrome 6' SubClassOf 'Senior-Loken syndrome' 'Senior-Loken syndrome 6' SubClassOf 'CEP290-related ciliopathy' 'Senior-Loken syndrome 6' SubClassOf 'Senior-Loken syndrome' 'Senior-Loken syndrome 6' SubClassOf 'CEP290-related ciliopathy' http://purl.obolibrary.org/obo/MONDO_0012434 arrhythmogenic right ventricular dysplasia 10 'arrhythmogenic right ventricular dysplasia 10' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 10' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0012448 hereditary spastic paraplegia 33 'hereditary spastic paraplegia 33' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 33' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012449 spinocerebellar ataxia type 23 'spinocerebellar ataxia type 23' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 23' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_1011336 nervous system disorder, non-human animal 'nervous system disorder, non-human animal' SubClassOf 'acute disease, non-human animal' 'nervous system disorder, non-human animal' SubClassOf 'inflammatory disease, non-human animal' 'nervous system disorder, non-human animal' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0012446 seborrhea-like dermatitis with psoriasiform elements 'seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'epidermal disease' 'seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0012447 synpolydactyly type 3 'synpolydactyly type 3' SubClassOf 'non-syndromic synpolydactyly' 'synpolydactyly type 3' SubClassOf 'non-syndromic synpolydactyly' http://purl.obolibrary.org/obo/MONDO_0012453 hereditary spastic paraplegia 31 'hereditary spastic paraplegia 31' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 31' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012454 alcohol sensitivity, acute 'alcohol sensitivity, acute' SubClassOf 'alcohol-related disorders' 'alcohol sensitivity, acute' SubClassOf 'genetic disorder' 'alcohol sensitivity, acute' SubClassOf 'alcohol-related disorders' 'alcohol sensitivity, acute' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012455 Kleefstra syndrome 'Kleefstra syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kleefstra syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012456 congenital primary aphakia 'congenital primary aphakia' SubClassOf 'disease has major feature' some 'Congenital aphakia' 'congenital primary aphakia' SubClassOf 'lens disease' 'congenital primary aphakia' SubClassOf 'anterior segment dysgenesis' 'congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Congenital aphakia' 'congenital primary aphakia' SubClassOf 'lens disease' 'congenital primary aphakia' SubClassOf 'anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0012450 spinocerebellar ataxia type 28 'spinocerebellar ataxia type 28' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 28' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'inherited blood coagulation disorder' 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'inherited blood coagulation disorder' 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://purl.obolibrary.org/obo/MONDO_0012462 autosomal recessive frontotemporal pachygyria 'autosomal recessive frontotemporal pachygyria' SubClassOf 'disorder of development or morphogenesis' 'autosomal recessive frontotemporal pachygyria' SubClassOf 'brain disease' 'autosomal recessive frontotemporal pachygyria' SubClassOf 'disorder of development or morphogenesis' 'autosomal recessive frontotemporal pachygyria' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0012466 Parkinson disease 13, autosomal dominant, susceptibility to 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Parkinson disease' http://www.ebi.ac.uk/efo/EFO_0009812 secondary malignant neoplasm 'secondary malignant neoplasm' SubClassOf 'cancer' 'secondary malignant neoplasm' SubClassOf 'secondary neoplasm' 'secondary malignant neoplasm' SubClassOf 'cancer' 'secondary malignant neoplasm' SubClassOf 'secondary neoplasm' http://purl.obolibrary.org/obo/MONDO_0012475 cone dystrophy with supernormal rod response 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy' 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy' http://purl.obolibrary.org/obo/MONDO_0012476 hereditary spastic paraplegia 30 'hereditary spastic paraplegia 30' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 30' SubClassOf 'KIF1A related neurological disorder' 'hereditary spastic paraplegia 30' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 30' SubClassOf 'KIF1A related neurological disorder' http://purl.obolibrary.org/obo/MONDO_0012479 congenital malabsorptive diarrhea 4 'congenital malabsorptive diarrhea 4' SubClassOf 'congenital diarrhea' 'congenital malabsorptive diarrhea 4' SubClassOf 'congenital diarrhea' http://purl.obolibrary.org/obo/MONDO_0012488 hepatitis B virus, susceptibility to 'hepatitis B virus, susceptibility to' SubClassOf 'inherited disease susceptibility' 'hepatitis B virus, susceptibility to' SubClassOf 'predisposes towards' some 'genetic disorder' 'hepatitis B virus, susceptibility to' SubClassOf 'inherited disease susceptibility' 'hepatitis B virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012482 West Nile virus, susceptibility to 'West Nile virus, susceptibility to' SubClassOf 'predisposes towards' some 'West Nile encephalitis' 'West Nile virus, susceptibility to' SubClassOf 'inherited disease susceptibility' 'West Nile virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'West Nile encephalitis' 'West Nile virus, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0012480 diabetes mellitus, transient neonatal, 2 'diabetes mellitus, transient neonatal, 2' SubClassOf 'transient neonatal diabetes mellitus' 'diabetes mellitus, transient neonatal, 2' SubClassOf 'transient neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0012481 mevalonic aciduria 'mevalonic aciduria' SubClassOf 'mevalonate kinase deficiency' 'mevalonic aciduria' SubClassOf 'mevalonate kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0012495 spondyloepimetaphyseal dysplasia, Genevieve type 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome 'Koolen-de Vries syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Koolen-de Vries syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012269 chromosome 3q29 microdeletion syndrome 'chromosome 3q29 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' 'chromosome 3q29 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' http://www.ebi.ac.uk/efo/EFO_0009730 polyarticular juvenile idiopathic arthritis 'polyarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'polyarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_0009731 polyarticular juvenile idiopathic arthritis, rheumatoid factor positive 'polyarticular juvenile idiopathic arthritis, rheumatoid factor positive' SubClassOf 'polyarticular juvenile idiopathic arthritis' 'polyarticular juvenile idiopathic arthritis, rheumatoid factor positive' SubClassOf 'polyarticular juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_0009732 enthesitis-related juvenile idiopathic arthritis 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_0009733 psoriasis-related juvenile idiopathic arthritis 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'psoriatic arthritis' 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'psoriatic arthritis' 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_0009734 unspecified juvenile idiopathic arthritis 'unspecified juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'unspecified juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://purl.obolibrary.org/obo/MONDO_0012277 myofibrillar myopathy 4 'myofibrillar myopathy 4' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 4' SubClassOf 'autosomal dominant distal myopathy' 'myofibrillar myopathy 4' SubClassOf 'qualitative or quantitative defects of protein ZASP' 'myofibrillar myopathy 4' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 4' SubClassOf 'autosomal dominant distal myopathy' 'myofibrillar myopathy 4' SubClassOf 'qualitative or quantitative defects of protein ZASP' http://purl.obolibrary.org/obo/MONDO_0012276 generalized epilepsy-paroxysmal dyskinesia syndrome 'generalized epilepsy-paroxysmal dyskinesia syndrome' SubClassOf 'familial partial epilepsy' 'generalized epilepsy-paroxysmal dyskinesia syndrome' SubClassOf 'familial partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0012274 acromesomelic dysplasia 3 'acromesomelic dysplasia 3' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 3' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0012271 mesoaxial synostotic syndactyly with phalangeal reduction 'mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'non-syndromic syndactyly' 'mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'polydactyly-syndactyly-triphalangism' 'mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'non-syndromic syndactyly' 'mesoaxial synostotic syndactyly with phalangeal reduction' SubClassOf 'polydactyly-syndactyly-triphalangism' http://purl.obolibrary.org/obo/MONDO_0012289 myofibrillar myopathy 5 'myofibrillar myopathy 5' SubClassOf 'qualitative or quantitative defects of filamin C' 'myofibrillar myopathy 5' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 5' SubClassOf 'qualitative or quantitative defects of filamin C' 'myofibrillar myopathy 5' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0012280 Goldberg-Shprintzen syndrome 'Goldberg-Shprintzen syndrome' SubClassOf 'intestinal motility disease' 'Goldberg-Shprintzen syndrome' SubClassOf 'syndromic disease' 'Goldberg-Shprintzen syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Goldberg-Shprintzen syndrome' SubClassOf 'intestinal motility disease' 'Goldberg-Shprintzen syndrome' SubClassOf 'syndromic disease' 'Goldberg-Shprintzen syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012282 Al-Gazali syndrome 'Al-Gazali syndrome' SubClassOf 'skeletal system disease' 'Al-Gazali syndrome' SubClassOf 'syndromic disease' 'Al-Gazali syndrome' SubClassOf 'genetic disorder' 'Al-Gazali syndrome' SubClassOf 'syndromic disease' 'Al-Gazali syndrome' SubClassOf 'skeletal system disease' 'Al-Gazali syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012299 nanophthalmos 2 'nanophthalmos 2' SubClassOf 'nanophthalmia' 'nanophthalmos 2' SubClassOf 'nanophthalmia' http://purl.obolibrary.org/obo/MONDO_0012297 spastic paraplegia, optic atropy, and neuropathy 'spastic paraplegia, optic atropy, and neuropathy' SubClassOf 'complex hereditary spastic paraplegia' 'spastic paraplegia, optic atropy, and neuropathy' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012292 hepatitis C virus, susceptibility to 'hepatitis C virus, susceptibility to' SubClassOf 'predisposes towards' some 'hepatitis C virus infection' 'hepatitis C virus, susceptibility to' SubClassOf 'inherited disease susceptibility' 'hepatitis C virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hepatitis C virus infection' 'hepatitis C virus, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0012290 CEDNIK syndrome 'CEDNIK syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'CEDNIK syndrome' SubClassOf 'syndromic disease' 'CEDNIK syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'CEDNIK syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012296 lipomyelomeningocele 'lipomyelomeningocele' SubClassOf 'neural tube defect' 'lipomyelomeningocele' SubClassOf 'neural tube defect' http://www.ebi.ac.uk/efo/EFO_0009781 progesterone-receptor negative breast cancer 'progesterone-receptor negative breast cancer' SubClassOf 'Breast Carcinoma by Gene Expression Profile' 'progesterone-receptor negative breast cancer' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://www.ebi.ac.uk/efo/EFO_0009780 HER2 negative breast carcinoma 'HER2 negative breast carcinoma' SubClassOf 'Breast Carcinoma by Gene Expression Profile' 'HER2 negative breast carcinoma' SubClassOf 'Breast Carcinoma by Gene Expression Profile' http://purl.obolibrary.org/obo/MONDO_0810000 choroidal neovascularization 'choroidal neovascularization' SubClassOf 'eye disease' 'choroidal neovascularization' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0020092 neuroinflammatory disorder 'neuroinflammatory disorder' SubClassOf 'autoimmune disorder of the nervous system' 'neuroinflammatory disorder' SubClassOf 'central nervous system disease' 'neuroinflammatory disorder' SubClassOf 'autoimmune disorder of the nervous system' 'neuroinflammatory disorder' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0002907 intracranial thrombosis 'intracranial thrombosis' SubClassOf 'thrombotic disease' 'intracranial thrombosis' SubClassOf 'cerebrovascular disorder' 'intracranial thrombosis' SubClassOf 'thrombotic disease' 'intracranial thrombosis' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0002900 cerebral neuroblastoma 'cerebral neuroblastoma' SubClassOf 'cerebral hemisphere cancer' 'cerebral neuroblastoma' SubClassOf 'neuroblastoma' 'cerebral neuroblastoma' SubClassOf 'cerebral hemisphere cancer' 'cerebral neuroblastoma' SubClassOf 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0002901 blood group incompatibility 'blood group incompatibility' SubClassOf 'hematologic disease' 'blood group incompatibility' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0002917 disorder of pilosebaceous unit 'disorder of pilosebaceous unit' SubClassOf 'integumentary system disease' 'disorder of pilosebaceous unit' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0002912 brainstem cancer 'brainstem cancer' SubClassOf 'brain stem neoplasm' 'brainstem cancer' SubClassOf 'infratentorial cancer' 'brainstem cancer' SubClassOf 'brain stem neoplasm' 'brainstem cancer' SubClassOf 'infratentorial cancer' http://purl.obolibrary.org/obo/MONDO_0002913 cerebellar neoplasm 'cerebellar neoplasm' SubClassOf 'brain neoplasm' 'cerebellar neoplasm' SubClassOf 'cerebellar disorder' 'cerebellar neoplasm' SubClassOf 'brain neoplasm' 'cerebellar neoplasm' SubClassOf 'cerebellar disorder' http://purl.obolibrary.org/obo/MONDO_0002914 childhood brain stem neoplasm 'childhood brain stem neoplasm' SubClassOf 'childhood infratentorial neoplasm' 'childhood brain stem neoplasm' SubClassOf 'brainstem cancer' 'childhood brain stem neoplasm' SubClassOf 'childhood infratentorial neoplasm' 'childhood brain stem neoplasm' SubClassOf 'brainstem cancer' http://purl.obolibrary.org/obo/MONDO_0002921 congenital structural myopathy 'congenital structural myopathy' SubClassOf 'congenital myopathy' 'congenital structural myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0002927 spindle cell sarcoma 'spindle cell sarcoma' SubClassOf 'sarcoma' 'spindle cell sarcoma' SubClassOf 'sarcoma' http://purl.obolibrary.org/obo/MONDO_0002928 carcinosarcoma 'carcinosarcoma' SubClassOf 'Malignant Mixed Neoplasm' 'carcinosarcoma' SubClassOf 'Malignant Mixed Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002923 uterine corpus endometrial stromal sarcoma 'uterine corpus endometrial stromal sarcoma' SubClassOf 'uterine sarcoma' 'uterine corpus endometrial stromal sarcoma' SubClassOf 'endometrial stromal sarcoma' 'uterine corpus endometrial stromal sarcoma' SubClassOf 'uterine sarcoma' 'uterine corpus endometrial stromal sarcoma' SubClassOf 'endometrial stromal sarcoma' http://purl.obolibrary.org/obo/MONDO_0002924 smooth muscle cancer 'smooth muscle cancer' SubClassOf 'smooth muscle tumor' 'smooth muscle cancer' SubClassOf 'muscle cancer' 'smooth muscle cancer' SubClassOf 'smooth muscle tumor' 'smooth muscle cancer' SubClassOf 'muscle cancer' http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma 'kidney sarcoma' SubClassOf 'kidney cancer' 'kidney sarcoma' SubClassOf 'soft tissue sarcoma' 'kidney sarcoma' SubClassOf 'kidney cancer' 'kidney sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002933 osteosclerosis 'osteosclerosis' SubClassOf 'bone remodeling disease' 'osteosclerosis' SubClassOf 'bone remodeling disease' http://purl.obolibrary.org/obo/MONDO_0002935 penis basal cell carcinoma 'penis basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' 'penis basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002936 scrotum basal cell carcinoma 'scrotum basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' 'scrotum basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002943 external ear basal cell carcinoma 'external ear basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' 'external ear basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002944 external ear carcinoma 'external ear carcinoma' SubClassOf 'head and neck carcinoma' 'external ear carcinoma' SubClassOf 'external ear cancer' 'external ear carcinoma' SubClassOf 'head and neck carcinoma' 'external ear carcinoma' SubClassOf 'external ear cancer' http://purl.obolibrary.org/obo/MONDO_0002951 skin adenoid basal cell carcinoma 'skin adenoid basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' 'skin adenoid basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002959 radiculopathy 'radiculopathy' SubClassOf 'peripheral nervous system disease' 'radiculopathy' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/MONDO_0002955 vulva basal cell carcinoma 'vulva basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' 'vulva basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002962 epidermolytic acanthoma 'epidermolytic acanthoma' SubClassOf 'acanthoma' 'epidermolytic acanthoma' SubClassOf 'acanthoma' http://purl.obolibrary.org/obo/MONDO_0002966 splenic manifestation of prolymphocytic leukemia 'splenic manifestation of prolymphocytic leukemia' SubClassOf 'prolymphocytic leukemia' 'splenic manifestation of prolymphocytic leukemia' SubClassOf 'splenic manifestation of leukemia' 'splenic manifestation of prolymphocytic leukemia' SubClassOf 'prolymphocytic leukemia' 'splenic manifestation of prolymphocytic leukemia' SubClassOf 'splenic manifestation of leukemia' http://purl.obolibrary.org/obo/MONDO_0002967 dermatophytosis of scalp or beard 'dermatophytosis of scalp or beard' SubClassOf 'dermatophytosis' 'dermatophytosis of scalp or beard' SubClassOf 'dermatophytosis' http://purl.obolibrary.org/obo/MONDO_0002969 ciliary body cancer 'ciliary body cancer' SubClassOf 'iris cancer' 'ciliary body cancer' SubClassOf 'ciliary body neoplasm' 'ciliary body cancer' SubClassOf 'iris cancer' 'ciliary body cancer' SubClassOf 'ciliary body neoplasm' http://purl.obolibrary.org/obo/MONDO_0002973 epithelioid cell melanoma 'epithelioid cell melanoma' SubClassOf 'melanoma' 'epithelioid cell melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/MONDO_0002974 cervical cancer 'cervical cancer' SubClassOf 'uterine cervix neoplasm' 'cervical cancer' SubClassOf 'uterine cancer' 'cervical cancer' SubClassOf 'uterine cervix neoplasm' 'cervical cancer' SubClassOf 'uterine cancer' http://purl.obolibrary.org/obo/MONDO_0002975 malignant breast melanoma 'malignant breast melanoma' SubClassOf 'breast cancer' 'malignant breast melanoma' SubClassOf 'melanoma' 'malignant breast melanoma' SubClassOf 'breast cancer' 'malignant breast melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/MONDO_0002970 ciliary body disorder 'ciliary body disorder' SubClassOf 'iris disorder' 'ciliary body disorder' SubClassOf 'iris disorder' http://purl.obolibrary.org/obo/MONDO_0002977 autoimmune disorder of the nervous system 'autoimmune disorder of the nervous system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of the nervous system' SubClassOf 'nervous system disease' 'autoimmune disorder of the nervous system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of the nervous system' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0002979 papillary squamous carcinoma 'papillary squamous carcinoma' SubClassOf 'squamous cell carcinoma' 'papillary squamous carcinoma' EquivalentTo 'squamous cell carcinoma' and 'papillary carcinoma' 'papillary squamous carcinoma' SubClassOf 'papillary carcinoma' 'papillary squamous carcinoma' SubClassOf 'squamous cell carcinoma' 'papillary squamous carcinoma' EquivalentTo 'squamous cell carcinoma' and 'papillary carcinoma' 'papillary squamous carcinoma' SubClassOf 'papillary carcinoma' http://purl.obolibrary.org/obo/MONDO_0002981 peripheral primitive neuroectodermal tumor of bone 'peripheral primitive neuroectodermal tumor of bone' SubClassOf 'peripheral primitive neuroectodermal tumor' 'peripheral primitive neuroectodermal tumor of bone' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone' 'peripheral primitive neuroectodermal tumor of bone' SubClassOf 'peripheral primitive neuroectodermal tumor' 'peripheral primitive neuroectodermal tumor of bone' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone' http://purl.obolibrary.org/obo/MONDO_0012307 familial scaphocephaly syndrome, McGillivray type 'familial scaphocephaly syndrome, McGillivray type' SubClassOf 'familial scaphocephaly syndrome' 'familial scaphocephaly syndrome, McGillivray type' SubClassOf 'familial scaphocephaly syndrome' http://purl.obolibrary.org/obo/MONDO_0012308 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf 'Joubert syndrome' 'Joubert syndrome with renal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'Joubert syndrome with renal defect' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0012309 parietal foramina 2 'parietal foramina 2' SubClassOf 'parietal foramina' 'parietal foramina 2' SubClassOf 'parietal foramina' http://purl.obolibrary.org/obo/MONDO_0012301 mitochondrial DNA depletion syndrome, myopathic form 'mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'inborn disorder of pyrimidine metabolism' 'mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'inborn disorder of pyrimidine metabolism' 'mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0002989 benign fibrous histiocytoma 'benign fibrous histiocytoma' SubClassOf 'histiocytoma' 'benign fibrous histiocytoma' SubClassOf 'histiocytoma' http://purl.obolibrary.org/obo/MONDO_0002995 small intestine neuroendocrine tumor, well differentiated, low or intermediate grade 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor' 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0002998 skull base meningioma 'skull base meningioma' SubClassOf 'meningioma' 'skull base meningioma' SubClassOf 'skull base neoplasm' 'skull base meningioma' SubClassOf 'meningioma' 'skull base meningioma' SubClassOf 'skull base neoplasm' http://purl.obolibrary.org/obo/MONDO_0012316 Majeed syndrome 'Majeed syndrome' SubClassOf 'chronic recurrent multifocal osteomyelitis' 'Majeed syndrome' SubClassOf 'chronic recurrent multifocal osteomyelitis' http://purl.obolibrary.org/obo/MONDO_0012314 short QT syndrome type 3 'short QT syndrome type 3' SubClassOf 'short QT syndrome' 'short QT syndrome type 3' SubClassOf 'short QT syndrome' http://purl.obolibrary.org/obo/MONDO_0012315 distal 10q deletion syndrome 'distal 10q deletion syndrome' SubClassOf 'partial monosomy of the long arm of chromosome 10' 'distal 10q deletion syndrome' SubClassOf 'partial monosomy of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0012313 short QT syndrome type 2 'short QT syndrome type 2' SubClassOf 'short QT syndrome' 'short QT syndrome type 2' SubClassOf 'short QT syndrome' http://purl.obolibrary.org/obo/MONDO_0002999 central nervous system germinoma 'central nervous system germinoma' SubClassOf 'central nervous system cancer' 'central nervous system germinoma' SubClassOf 'central nervous system germ cell tumor' 'central nervous system germinoma' SubClassOf 'central nervous system cancer' 'central nervous system germinoma' SubClassOf 'central nervous system germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0012328 trichilemmal cyst 'trichilemmal cyst' SubClassOf 'genetic disorder' 'trichilemmal cyst' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0012323 lethal acantholytic epidermolysis bullosa 'lethal acantholytic epidermolysis bullosa' SubClassOf 'suprabasal epidermolysis bullosa simplex' 'lethal acantholytic epidermolysis bullosa' SubClassOf 'suprabasal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0012324 Frias syndrome 'Frias syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Frias syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' 'Frias syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Frias syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0012333 autosomal recessive nonsyndromic hearing loss 53 'autosomal recessive nonsyndromic hearing loss 53' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 53' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0012330 talo-patello-scaphoid osteolysis 'talo-patello-scaphoid osteolysis' SubClassOf 'primary osteolysis' 'talo-patello-scaphoid osteolysis' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0012334 hereditary spastic paraplegia 29 'hereditary spastic paraplegia 29' SubClassOf 'autosomal dominant complex spastic paraplegia' 'hereditary spastic paraplegia 29' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012341 celiac disease, susceptibility to, 3 'celiac disease, susceptibility to, 3' SubClassOf 'predisposes towards' some 'celiac disease' 'celiac disease, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'celiac disease' http://purl.obolibrary.org/obo/MONDO_0012342 7q11.23 microduplication syndrome '7q11.23 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 7' '7q11.23 microduplication syndrome' SubClassOf 'genetic disorder' '7q11.23 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 7' '7q11.23 microduplication syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012345 acral peeling skin syndrome 'acral peeling skin syndrome' SubClassOf 'peeling skin syndrome' 'acral peeling skin syndrome' SubClassOf 'peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0012354 platelet-type bleeding disorder 8 'platelet-type bleeding disorder 8' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 8' SubClassOf 'inherited blood coagulation disorder' 'platelet-type bleeding disorder 8' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 8' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0012353 erythrocytosis, familial, 3 'erythrocytosis, familial, 3' SubClassOf 'familial polycythemia' 'erythrocytosis, familial, 3' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0012359 combined immunodeficiency due to partial RAG1 deficiency 'combined immunodeficiency due to partial RAG1 deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'combined immunodeficiency due to partial RAG1 deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012350 complement factor H deficiency 'complement factor H deficiency' SubClassOf 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' 'complement factor H deficiency' SubClassOf 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0012351 zygodactyly type 1 'zygodactyly type 1' SubClassOf 'syndactyly type 1' 'zygodactyly type 1' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0012363 retinitis pigmentosa 32 'retinitis pigmentosa 32' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 32' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia 'brachyphalangy, polydactyly, and tibial aplasia/hypoplasia' SubClassOf 'genetic disorder' 'brachyphalangy, polydactyly, and tibial aplasia/hypoplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012145 macular degeneration, age-related, 3 'macular degeneration, age-related, 3' SubClassOf 'age-related macular degeneration' 'macular degeneration, age-related, 3' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0012143 hereditary cryohydrocytosis with reduced stomatin 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'hereditary stomatocytosis' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'syndromic intellectual disability' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'hereditary stomatocytosis' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012141 orofacial cleft 6, susceptibility to 'orofacial cleft 6, susceptibility to' SubClassOf 'predisposes towards' some 'orofacial cleft' 'orofacial cleft 6, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0012142 orofacial cleft 5 'orofacial cleft 5' SubClassOf 'isolated cleft lip' 'orofacial cleft 5' SubClassOf 'cleft lip/palate' 'orofacial cleft 5' SubClassOf 'cleft lip and alveolus' 'orofacial cleft 5' SubClassOf 'isolated cleft lip' 'orofacial cleft 5' SubClassOf 'cleft lip/palate' 'orofacial cleft 5' SubClassOf 'cleft lip and alveolus' http://purl.obolibrary.org/obo/MONDO_0012155 choanal atresia 'choanal atresia' SubClassOf 'nasal cavity disorder' 'choanal atresia' SubClassOf 'nasal cavity disorder' http://purl.obolibrary.org/obo/MONDO_0012165 BNAR syndrome 'BNAR syndrome' SubClassOf 'bifid nose' 'BNAR syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'BNAR syndrome' SubClassOf 'syndromic disease' 'BNAR syndrome' SubClassOf 'bifid nose' 'BNAR syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'BNAR syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012166 autosomal dominant sensory ataxia 1 'autosomal dominant sensory ataxia 1' SubClassOf 'sensory ataxia' 'autosomal dominant sensory ataxia 1' SubClassOf 'sensory ataxia' http://purl.obolibrary.org/obo/MONDO_0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012163 immunodeficiency 104 'immunodeficiency 104' SubClassOf 'T-B+ severe combined immunodeficiency' 'immunodeficiency 104' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 104' SubClassOf 'T-B+ severe combined immunodeficiency' 'immunodeficiency 104' SubClassOf 'familial severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012164 Meacham syndrome 'Meacham syndrome' SubClassOf 'syndromic disease' 'Meacham syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'predisposes towards' some 'respiratory tract infectious disorder' 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'inherited disease susceptibility' 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'respiratory tract infectious disorder' 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0012176 Emanuel syndrome 'Emanuel syndrome' SubClassOf 'genetic disorder' 'Emanuel syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012177 posterior column ataxia-retinitis pigmentosa syndrome 'posterior column ataxia-retinitis pigmentosa syndrome' SubClassOf 'FLVCR1-related retinopathy with or without ataxia' 'posterior column ataxia-retinitis pigmentosa syndrome' SubClassOf 'FLVCR1-related retinopathy with or without ataxia' http://purl.obolibrary.org/obo/MONDO_0012172 mitochondrial trifunctional protein deficiency 'mitochondrial trifunctional protein deficiency' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial trifunctional protein deficiency' SubClassOf 'inherited lipid metabolism disorder' 'mitochondrial trifunctional protein deficiency' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial trifunctional protein deficiency' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 'long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'hereditary peripheral neuropathy' 'long chain 3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0012187 Fanconi anemia complementation group J 'Fanconi anemia complementation group J' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group J' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0012188 neuronal ceroid lipofuscinosis 9 'neuronal ceroid lipofuscinosis 9' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 9' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0012181 hereditary spastic paraplegia 27 'hereditary spastic paraplegia 27' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 27' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012185 spondylometaphyseal dysplasia, A4 type 'spondylometaphyseal dysplasia, A4 type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, A4 type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012186 Fanconi anemia complementation group I 'Fanconi anemia complementation group I' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group I' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0012184 Pierson syndrome 'Pierson syndrome' SubClassOf 'autosomal recessive disease' 'Pierson syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0012198 PCWH syndrome 'PCWH syndrome' SubClassOf 'autosomal dominant disease' 'PCWH syndrome' SubClassOf 'syndromic disease' 'PCWH syndrome' SubClassOf 'autosomal dominant disease' 'PCWH syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'neonatal diabetes mellitus' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0012193 autosomal dominant limb-girdle muscular dystrophy type 1G 'autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'autosomal dominant limb-girdle muscular dystrophy type 1G' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0012190 epidermolysis bullosa simplex 7, with nephropathy and deafness 'epidermolysis bullosa simplex 7, with nephropathy and deafness' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 7, with nephropathy and deafness' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 'hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'combined oxidative phosphorylation deficiency' 'hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012195 arthrogryposis-severe scoliosis syndrome 'arthrogryposis-severe scoliosis syndrome' SubClassOf 'distal arthrogryposis' 'arthrogryposis-severe scoliosis syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0036193 parkinsonism with polyneuropathy 'parkinsonism with polyneuropathy' SubClassOf 'parkinsonian disorder' 'parkinsonism with polyneuropathy' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0036189 oculogastrointestinal-neurodevelopmental syndrome 'oculogastrointestinal-neurodevelopmental syndrome' SubClassOf 'syndromic disease' 'oculogastrointestinal-neurodevelopmental syndrome' SubClassOf 'genetic disorder' 'oculogastrointestinal-neurodevelopmental syndrome' SubClassOf 'syndromic disease' 'oculogastrointestinal-neurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002809 pancreatic cystadenoma 'pancreatic cystadenoma' SubClassOf 'cystadenoma' 'pancreatic cystadenoma' SubClassOf 'pancreatic exocrine neoplasm' 'pancreatic cystadenoma' SubClassOf 'cystadenoma' 'pancreatic cystadenoma' SubClassOf 'pancreatic exocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002805 hidradenoma 'hidradenoma' SubClassOf 'sweat gland adenoma' 'hidradenoma' SubClassOf 'sweat gland adenoma' http://purl.obolibrary.org/obo/MONDO_0002808 pancreatic serous cystadenoma 'pancreatic serous cystadenoma' SubClassOf 'pancreatic cystadenoma' 'pancreatic serous cystadenoma' SubClassOf 'serous cystadenoma' 'pancreatic serous cystadenoma' SubClassOf 'pancreatic cystadenoma' 'pancreatic serous cystadenoma' SubClassOf 'serous cystadenoma' http://purl.obolibrary.org/obo/MONDO_0002810 pancreatic serous cystic neoplasm 'pancreatic serous cystic neoplasm' SubClassOf 'pancreatic exocrine neoplasm' 'pancreatic serous cystic neoplasm' SubClassOf 'pancreatic exocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002816 adrenal cortex disorder 'adrenal cortex disorder' SubClassOf 'adrenal gland disease' 'adrenal cortex disorder' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0002817 adrenal gland cancer 'adrenal gland cancer' SubClassOf 'adrenal gland neoplasm' 'adrenal gland cancer' SubClassOf 'malignant endocrine neoplasm' 'adrenal gland cancer' SubClassOf 'retroperitoneal cancer' 'adrenal gland cancer' SubClassOf 'adrenal gland neoplasm' 'adrenal gland cancer' SubClassOf 'malignant endocrine neoplasm' 'adrenal gland cancer' SubClassOf 'retroperitoneal cancer' http://purl.obolibrary.org/obo/MONDO_0002812 infectious otitis interna 'infectious otitis interna' SubClassOf 'ear infection' 'infectious otitis interna' SubClassOf 'ear infection' http://purl.obolibrary.org/obo/MONDO_0002813 lipomatous cancer 'lipomatous cancer' SubClassOf 'tumor of adipose tissue' 'lipomatous cancer' SubClassOf 'tumor of adipose tissue' http://purl.obolibrary.org/obo/MONDO_0002814 adrenal carcinoma 'adrenal carcinoma' SubClassOf 'adrenal gland cancer' 'adrenal carcinoma' SubClassOf 'adrenal gland cancer' http://purl.obolibrary.org/obo/MONDO_0002815 acute myocarditis 'acute myocarditis' SubClassOf 'myocarditis' 'acute myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/MONDO_0002822 trabecular adenocarcinoma 'trabecular adenocarcinoma' SubClassOf 'adenocarcinoma' 'trabecular adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002828 Bartholin gland transitional cell carcinoma 'Bartholin gland transitional cell carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Bartholin gland transitional cell carcinoma' SubClassOf 'Bartholin Gland Carcinoma' 'Bartholin gland transitional cell carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Bartholin gland transitional cell carcinoma' SubClassOf 'Bartholin Gland Carcinoma' http://purl.obolibrary.org/obo/MONDO_0002824 extrinsic cardiomyopathy 'extrinsic cardiomyopathy' SubClassOf 'cardiomyopathy' 'extrinsic cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0002833 fallopian tube transitional cell carcinoma 'fallopian tube transitional cell carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'fallopian tube transitional cell carcinoma' SubClassOf 'Fallopian Tube Carcinoma' 'fallopian tube transitional cell carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'fallopian tube transitional cell carcinoma' SubClassOf 'Fallopian Tube Carcinoma' http://purl.obolibrary.org/obo/MONDO_0002839 leather-bottle stomach 'leather-bottle stomach' SubClassOf 'cancer-related condition' 'leather-bottle stomach' SubClassOf 'cancer-related condition' http://purl.obolibrary.org/obo/MONDO_0002834 primary prostate urothelial carcinoma 'primary prostate urothelial carcinoma' SubClassOf 'prostate carcinoma' 'primary prostate urothelial carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'primary prostate urothelial carcinoma' SubClassOf 'prostate carcinoma' 'primary prostate urothelial carcinoma' SubClassOf 'Transitional Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0002836 urethra transitional cell carcinoma 'urethra transitional cell carcinoma' SubClassOf 'carcinoma of urethra' 'urethra transitional cell carcinoma' SubClassOf 'carcinoma of urethra' http://purl.obolibrary.org/obo/MONDO_0002837 sarcomatoid transitional cell carcinoma 'sarcomatoid transitional cell carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'sarcomatoid transitional cell carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'sarcomatoid transitional cell carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'sarcomatoid transitional cell carcinoma' SubClassOf 'Transitional Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0002842 bacterial gastritis 'bacterial gastritis' SubClassOf 'gastritis' 'bacterial gastritis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0002843 fungal gastritis 'fungal gastritis' SubClassOf 'gastritis' 'fungal gastritis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0002849 liver rhabdomyosarcoma 'liver rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'liver rhabdomyosarcoma' SubClassOf 'liver sarcoma' 'liver rhabdomyosarcoma' SubClassOf 'liver sarcoma' 'liver rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002847 skeletal muscle cancer 'skeletal muscle cancer' SubClassOf 'skeletal muscle neoplasm' 'skeletal muscle cancer' SubClassOf 'muscle cancer' 'skeletal muscle cancer' SubClassOf 'skeletal muscle neoplasm' 'skeletal muscle cancer' SubClassOf 'muscle cancer' http://purl.obolibrary.org/obo/MONDO_0002848 skeletal muscle neoplasm 'skeletal muscle neoplasm' SubClassOf 'skeletal muscle disorder' 'skeletal muscle neoplasm' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0002852 mediastinum sarcoma 'mediastinum sarcoma' SubClassOf 'soft tissue sarcoma' 'mediastinum sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002853 rectum rhabdomyosarcoma 'rectum rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'rectum rhabdomyosarcoma' SubClassOf 'rectum sarcoma' 'rectum rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'rectum rhabdomyosarcoma' SubClassOf 'rectum sarcoma' http://purl.obolibrary.org/obo/MONDO_0002854 prostate sarcoma 'prostate sarcoma' SubClassOf 'soft tissue sarcoma' 'prostate sarcoma' SubClassOf 'prostate cancer' 'prostate sarcoma' SubClassOf 'soft tissue sarcoma' 'prostate sarcoma' SubClassOf 'prostate cancer' http://purl.obolibrary.org/obo/MONDO_0002855 ectomesenchymoma 'ectomesenchymoma' SubClassOf 'sarcoma' 'ectomesenchymoma' SubClassOf 'sarcoma' http://purl.obolibrary.org/obo/MONDO_0002850 central nervous system rhabdomyosarcoma 'central nervous system rhabdomyosarcoma' SubClassOf 'central nervous system sarcoma' 'central nervous system rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'central nervous system rhabdomyosarcoma' SubClassOf 'central nervous system sarcoma' 'central nervous system rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002851 mediastinum rhabdomyosarcoma 'mediastinum rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'mediastinum rhabdomyosarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinum rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'mediastinum rhabdomyosarcoma' SubClassOf 'mediastinum sarcoma' http://purl.obolibrary.org/obo/MONDO_0002856 gallbladder rhabdomyosarcoma 'gallbladder rhabdomyosarcoma' SubClassOf 'gallbladder sarcoma' 'gallbladder rhabdomyosarcoma' SubClassOf 'gallbladder sarcoma' http://purl.obolibrary.org/obo/MONDO_0002857 gallbladder sarcoma 'gallbladder sarcoma' SubClassOf 'gallbladder cancer' 'gallbladder sarcoma' SubClassOf 'soft tissue sarcoma' 'gallbladder sarcoma' SubClassOf 'gallbladder cancer' 'gallbladder sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002858 ovary rhabdomyosarcoma 'ovary rhabdomyosarcoma' SubClassOf 'ovarian sarcoma' 'ovary rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'ovary rhabdomyosarcoma' SubClassOf 'ovarian sarcoma' 'ovary rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002859 breast rhabdomyosarcoma 'breast rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'breast rhabdomyosarcoma' SubClassOf 'breast sarcoma' 'breast rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'breast rhabdomyosarcoma' SubClassOf 'breast sarcoma' http://purl.obolibrary.org/obo/MONDO_0002863 rhabdomyosarcoma with mixed embryonal and alveolar features 'rhabdomyosarcoma with mixed embryonal and alveolar features' SubClassOf 'rhabdomyosarcoma' 'rhabdomyosarcoma with mixed embryonal and alveolar features' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002864 anus rhabdomyosarcoma 'anus rhabdomyosarcoma' SubClassOf 'anus sarcoma' 'anus rhabdomyosarcoma' SubClassOf 'anus sarcoma' http://purl.obolibrary.org/obo/MONDO_0002865 anus sarcoma 'anus sarcoma' SubClassOf 'anus cancer' 'anus sarcoma' SubClassOf 'soft tissue sarcoma' 'anus sarcoma' SubClassOf 'anus cancer' 'anus sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002860 testis rhabdomyosarcoma 'testis rhabdomyosarcoma' SubClassOf 'testis sarcoma' 'testis rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'testis rhabdomyosarcoma' SubClassOf 'testis sarcoma' 'testis rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002861 testis sarcoma 'testis sarcoma' SubClassOf 'soft tissue sarcoma' 'testis sarcoma' SubClassOf 'testicular carcinoma' 'testis sarcoma' SubClassOf 'soft tissue sarcoma' 'testis sarcoma' SubClassOf 'testicular carcinoma' http://purl.obolibrary.org/obo/MONDO_0002862 bile duct sarcoma 'bile duct sarcoma' SubClassOf 'bile duct cancer' 'bile duct sarcoma' SubClassOf 'bile duct cancer' http://purl.obolibrary.org/obo/MONDO_0002867 pancreatic cystadenocarcinoma 'pancreatic cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'pancreatic cystadenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' 'pancreatic cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'pancreatic cystadenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002874 testicular pure germ cell tumor 'testicular pure germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' 'testicular pure germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0002875 parasitic ectoparasitic infectious disease 'parasitic ectoparasitic infectious disease' SubClassOf 'parasitic skin disorder' 'parasitic ectoparasitic infectious disease' SubClassOf 'parasitic skin disorder' http://purl.obolibrary.org/obo/MONDO_0002876 cervical adenosarcoma 'cervical adenosarcoma' SubClassOf 'adenosarcoma' 'cervical adenosarcoma' SubClassOf 'malignant mixed epithelial and mesenchymal tumor of cervix uteri' 'cervical adenosarcoma' SubClassOf 'adenosarcoma' 'cervical adenosarcoma' SubClassOf 'malignant mixed epithelial and mesenchymal tumor of cervix uteri' http://purl.obolibrary.org/obo/MONDO_0002877 cervical carcinosarcoma 'cervical carcinosarcoma' SubClassOf 'Uterine Carcinosarcoma' 'cervical carcinosarcoma' SubClassOf 'malignant mixed epithelial and mesenchymal tumor of cervix uteri' 'cervical carcinosarcoma' SubClassOf 'Uterine Carcinosarcoma' 'cervical carcinosarcoma' SubClassOf 'malignant mixed epithelial and mesenchymal tumor of cervix uteri' http://purl.obolibrary.org/obo/MONDO_0002870 tricuspid valve insufficiency 'tricuspid valve insufficiency' SubClassOf 'tricuspid valve disease' 'tricuspid valve insufficiency' SubClassOf 'tricuspid valve disease' http://purl.obolibrary.org/obo/MONDO_0002871 testicular trophoblastic tumor 'testicular trophoblastic tumor' SubClassOf 'Testicular Non-Seminomatous Germ Cell Tumor' 'testicular trophoblastic tumor' SubClassOf 'testicular pure germ cell tumor' 'testicular trophoblastic tumor' SubClassOf 'trophoblastic neoplasm' 'testicular trophoblastic tumor' SubClassOf 'Testicular Non-Seminomatous Germ Cell Tumor' 'testicular trophoblastic tumor' SubClassOf 'testicular pure germ cell tumor' 'testicular trophoblastic tumor' SubClassOf 'trophoblastic neoplasm' http://purl.obolibrary.org/obo/MONDO_0002878 uterine corpus adenosarcoma 'uterine corpus adenosarcoma' SubClassOf 'uterine body mixed cancer' 'uterine corpus adenosarcoma' SubClassOf 'adenosarcoma' 'uterine corpus adenosarcoma' SubClassOf 'uterine body mixed cancer' 'uterine corpus adenosarcoma' SubClassOf 'adenosarcoma' http://purl.obolibrary.org/obo/MONDO_0002879 uterine body mixed cancer 'uterine body mixed cancer' SubClassOf 'Malignant Mixed Neoplasm' 'uterine body mixed cancer' SubClassOf 'uterine corpus mixed epithelial and mesenchymal neoplasm' 'uterine body mixed cancer' SubClassOf 'uterine corpus cancer' 'uterine body mixed cancer' SubClassOf 'Malignant Mixed Neoplasm' 'uterine body mixed cancer' SubClassOf 'uterine corpus mixed epithelial and mesenchymal neoplasm' 'uterine body mixed cancer' SubClassOf 'uterine corpus cancer' http://purl.obolibrary.org/obo/MONDO_0002886 common bile duct disorder 'common bile duct disorder' SubClassOf 'bile duct disorder' 'common bile duct disorder' SubClassOf 'bile duct disorder' http://purl.obolibrary.org/obo/MONDO_0002887 bile duct disorder 'bile duct disorder' SubClassOf 'biliary tract disease' 'bile duct disorder' SubClassOf 'biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0002881 vaginal adenosarcoma 'vaginal adenosarcoma' SubClassOf 'adenosarcoma' 'vaginal adenosarcoma' SubClassOf 'adenosarcoma' http://purl.obolibrary.org/obo/MONDO_0002882 colon neuroendocrine neoplasm 'colon neuroendocrine neoplasm' SubClassOf 'intestinal neuroendocrine neoplasm' 'colon neuroendocrine neoplasm' SubClassOf 'colonic neoplasm' 'colon neuroendocrine neoplasm' SubClassOf 'intestinal neuroendocrine neoplasm' 'colon neuroendocrine neoplasm' SubClassOf 'colonic neoplasm' http://purl.obolibrary.org/obo/MONDO_0002883 intestinal neuroendocrine neoplasm 'intestinal neuroendocrine neoplasm' SubClassOf 'intestinal neoplasm' 'intestinal neuroendocrine neoplasm' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002884 nail disorder 'nail disorder' SubClassOf 'integumentary system disease' 'nail disorder' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0012208 congenital reticular ichthyosiform erythroderma 'congenital reticular ichthyosiform erythroderma' SubClassOf 'keratinopathic ichthyosis' 'congenital reticular ichthyosiform erythroderma' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0012209 branchiogenic deafness syndrome 'branchiogenic deafness syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'branchiogenic deafness syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0012206 spondyloepiphyseal dysplasia with metatarsal shortening 'spondyloepiphyseal dysplasia with metatarsal shortening' SubClassOf 'type 2 collagenopathy' 'spondyloepiphyseal dysplasia with metatarsal shortening' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia with metatarsal shortening' SubClassOf 'type 2 collagenopathy' 'spondyloepiphyseal dysplasia with metatarsal shortening' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0002880 ovarian adenosarcoma 'ovarian adenosarcoma' SubClassOf 'adenosarcoma' 'ovarian adenosarcoma' SubClassOf 'ovarian cancer' 'ovarian adenosarcoma' SubClassOf 'adenosarcoma' 'ovarian adenosarcoma' SubClassOf 'ovarian cancer' http://purl.obolibrary.org/obo/MONDO_0012204 familial pseudohyperkalemia 'familial pseudohyperkalemia' SubClassOf 'hereditary stomatocytosis' 'familial pseudohyperkalemia' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0012205 autosomal dominant striatal neurodegeneration type 1 'autosomal dominant striatal neurodegeneration type 1' SubClassOf 'striatal degeneration, autosomal dominant' 'autosomal dominant striatal neurodegeneration type 1' SubClassOf 'parkinsonian disorder' 'autosomal dominant striatal neurodegeneration type 1' SubClassOf 'striatal degeneration, autosomal dominant' 'autosomal dominant striatal neurodegeneration type 1' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0012203 familial hyperthyroidism due to mutations in TSH receptor 'familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'hyperthyroidism' 'familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'hyperthyroidism' http://purl.obolibrary.org/obo/MONDO_0002898 skin cancer 'skin cancer' SubClassOf 'skin neoplasm' 'skin cancer' SubClassOf 'integumentary system cancer' 'skin cancer' SubClassOf 'skin neoplasm' 'skin cancer' SubClassOf 'integumentary system cancer' http://purl.obolibrary.org/obo/MONDO_0012211 MPDU1-congenital disorder of glycosylation 'MPDU1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'MPDU1-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'MPDU1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'MPDU1-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0012212 Loeys-Dietz syndrome 1 'Loeys-Dietz syndrome 1' SubClassOf 'Loeys-Dietz syndrome' 'Loeys-Dietz syndrome 1' SubClassOf 'Loeys-Dietz syndrome' http://purl.obolibrary.org/obo/MONDO_0012215 myofibrillar myopathy 3 'myofibrillar myopathy 3' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'myofibrillar myopathy 3' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 3' SubClassOf 'autosomal dominant distal myopathy' 'myofibrillar myopathy 3' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'myofibrillar myopathy 3' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 3' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'foveal hypoplasia' 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'hereditary optic neuropathy' 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'inborn disorder of amino acid transport' 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'syndromic disease' 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'foveal hypoplasia' 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'hereditary optic neuropathy' 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'inborn disorder of amino acid transport' 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012213 hereditary spastic paraplegia 26 'hereditary spastic paraplegia 26' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 26' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012222 alpha-N-acetylgalactosaminidase deficiency type 2 'alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' 'alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' http://purl.obolibrary.org/obo/MONDO_0012220 Griscelli syndrome type 3 'Griscelli syndrome type 3' SubClassOf 'Griscelli syndrome' 'Griscelli syndrome type 3' SubClassOf 'Griscelli syndrome' http://purl.obolibrary.org/obo/MONDO_0012221 alpha-N-acetylgalactosaminidase deficiency type 1 'alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' 'alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' http://purl.obolibrary.org/obo/MONDO_0012239 congenital myopathy 4B, autosomal recessive 'congenital myopathy 4B, autosomal recessive' SubClassOf 'childhood-onset nemaline myopathy' 'congenital myopathy 4B, autosomal recessive' SubClassOf 'TPM3-related myopathy' 'congenital myopathy 4B, autosomal recessive' SubClassOf 'intermediate nemaline myopathy' 'congenital myopathy 4B, autosomal recessive' SubClassOf 'TPM3-related myopathy' 'congenital myopathy 4B, autosomal recessive' SubClassOf 'childhood-onset nemaline myopathy' 'congenital myopathy 4B, autosomal recessive' SubClassOf 'intermediate nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0012231 Charcot-Marie-Tooth disease type 2A2 'Charcot-Marie-Tooth disease type 2A2' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2A2' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0012232 stuttering, familial persistent, 2 'stuttering, familial persistent, 2' SubClassOf 'stutter disorder' 'stuttering, familial persistent, 2' SubClassOf 'stutter disorder' http://purl.obolibrary.org/obo/MONDO_0012237 nemaline myopathy 6 'nemaline myopathy 6' SubClassOf 'childhood-onset nemaline myopathy' 'nemaline myopathy 6' SubClassOf 'childhood-onset nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0012238 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' http://purl.obolibrary.org/obo/MONDO_0012235 autosomal recessive spinocerebellar ataxia 7 'autosomal recessive spinocerebellar ataxia 7' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 7' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 'B-cell immunodeficiency, distal limb anomalies, and urogenital malformations' SubClassOf 'genetic disorder' 'B-cell immunodeficiency, distal limb anomalies, and urogenital malformations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012248 autosomal recessive limb-girdle muscular dystrophy type 2K 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'myopathy caused by variation in POMT1' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'qualitative or quantitative defects of protein O-mannosyltransferase 1' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'myopathy caused by variation in POMT1' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'qualitative or quantitative defects of protein O-mannosyltransferase 1' http://purl.obolibrary.org/obo/MONDO_0012246 spinocerebellar ataxia type 26 'spinocerebellar ataxia type 26' SubClassOf 'autosomal dominant cerebellar ataxia type III' 'spinocerebellar ataxia type 26' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0012247 spinocerebellar ataxia type 27 'spinocerebellar ataxia type 27' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 27' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0012240 congenital myopathy 23 'congenital myopathy 23' SubClassOf 'typical nemaline myopathy' 'congenital myopathy 23' SubClassOf 'childhood-onset nemaline myopathy' 'congenital myopathy 23' SubClassOf 'TPM2-related myopathy' 'congenital myopathy 23' SubClassOf 'typical nemaline myopathy' 'congenital myopathy 23' SubClassOf 'childhood-onset nemaline myopathy' 'congenital myopathy 23' SubClassOf 'TPM2-related myopathy' http://purl.obolibrary.org/obo/MONDO_0012241 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' http://purl.obolibrary.org/obo/MONDO_0012256 hereditary spastic paraplegia 28 'hereditary spastic paraplegia 28' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 28' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012253 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia 'multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, with severe proximal femoral dysplasia' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012254 multiple epiphyseal dysplasia, with miniepiphyses 'multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, with miniepiphyses' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012257 Cerebrorenodigital syndrome 'Cerebrorenodigital syndrome' SubClassOf 'syndromic disease' 'Cerebrorenodigital syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema 'epidermolysis bullosa simplex 2E, with migratory circinate erythema' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 2E, with migratory circinate erythema' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0012251 MEDNIK syndrome 'MEDNIK syndrome' SubClassOf 'erythrokeratoderma' 'MEDNIK syndrome' SubClassOf 'disorder of copper metabolism' 'MEDNIK syndrome' SubClassOf 'syndromic disease' 'MEDNIK syndrome' SubClassOf 'erythrokeratoderma' 'MEDNIK syndrome' SubClassOf 'disorder of copper metabolism' 'MEDNIK syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012250 Charcot-Marie-Tooth disease type 4H 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4H' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0012020 chromosome 22q11.2 microduplication syndrome 'chromosome 22q11.2 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 22' 'chromosome 22q11.2 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 22' http://purl.obolibrary.org/obo/MONDO_0012035 craniosynostosis-intracranial calcifications syndrome 'craniosynostosis-intracranial calcifications syndrome' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis-intracranial calcifications syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0012033 bradyopsia 'bradyopsia' SubClassOf 'retinopathy' 'bradyopsia' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0012034 autosomal dominant limb-girdle muscular dystrophy type 1F 'autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'autosomal dominant limb-girdle muscular dystrophy type 1F' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0012031 platelet-type bleeding disorder 10 'platelet-type bleeding disorder 10' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 10' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0012032 Braddock syndrome 'Braddock syndrome' SubClassOf 'pulmonary hypertension' 'Braddock syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Braddock syndrome' SubClassOf 'pulmonary hypertension' 'Braddock syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012043 Reis-Bucklers corneal dystrophy 'Reis-Bucklers corneal dystrophy' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Reis-Bucklers corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'Reis-Bucklers corneal dystrophy' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Reis-Bucklers corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0012041 familial adenomatous polyposis 2 'familial adenomatous polyposis 2' SubClassOf 'autosomal recessive disease' 'familial adenomatous polyposis 2' SubClassOf 'attenuated familial adenomatous polyposis' 'familial adenomatous polyposis 2' SubClassOf 'classic familial adenomatous polyposis' 'familial adenomatous polyposis 2' SubClassOf 'autosomal recessive disease' 'familial adenomatous polyposis 2' SubClassOf 'attenuated familial adenomatous polyposis' 'familial adenomatous polyposis 2' SubClassOf 'classic familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0012057 legionnaire disease, susceptibility to 'legionnaire disease, susceptibility to' SubClassOf 'predisposes towards' some 'Legionnaires' disease' 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Legionnaires' disease') 'legionnaire disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Legionnaires' disease' 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Legionnaires' disease') http://purl.obolibrary.org/obo/MONDO_0012055 Larsen-like osseous dysplasia-short stature syndrome 'Larsen-like osseous dysplasia-short stature syndrome' SubClassOf 'skeletal dysplasia' 'Larsen-like osseous dysplasia-short stature syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012056 Leber congenital amaurosis 9 'Leber congenital amaurosis 9' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 9' SubClassOf 'NMNAT1-related retinopathy' 'Leber congenital amaurosis 9' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 9' SubClassOf 'NMNAT1-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0012052 ALG1-congenital disorder of glycosylation 'ALG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG1-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG1-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0012061 familial sick sinus syndrome 'familial sick sinus syndrome' SubClassOf 'sick sinus syndrome' 'familial sick sinus syndrome' SubClassOf 'sick sinus syndrome' http://purl.obolibrary.org/obo/MONDO_0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012062 dilated cardiomyopathy 1O 'dilated cardiomyopathy 1O' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1O' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012063 ulnar/fibula ray defect-brachydactyly syndrome 'ulnar/fibula ray defect-brachydactyly syndrome' SubClassOf 'congenital limb malformation' 'ulnar/fibula ray defect-brachydactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0012077 amyotrophic lateral sclerosis type 8 'amyotrophic lateral sclerosis type 8' SubClassOf 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis type 8' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0012072 familial partial lipodystrophy, Kobberling type 'familial partial lipodystrophy, Kobberling type' SubClassOf 'familial partial lipodystrophy' 'familial partial lipodystrophy, Kobberling type' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0012075 oligodontia-cancer predisposition syndrome 'oligodontia-cancer predisposition syndrome' SubClassOf 'genetic disorder' 'oligodontia-cancer predisposition syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012073 ribose-5-P isomerase deficiency 'ribose-5-P isomerase deficiency' SubClassOf 'leukodystrophy' 'ribose-5-P isomerase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'ribose-5-P isomerase deficiency' SubClassOf 'leukodystrophy' 'ribose-5-P isomerase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0012074 mandibuloacral dysplasia with type B lipodystrophy 'mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'laminopathy' 'mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'mandibuloacral dysplasia' 'mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'mandibuloacral dysplasia' 'mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'laminopathy' http://purl.obolibrary.org/obo/MONDO_0012088 primary ciliary dyskinesia 5 'primary ciliary dyskinesia 5' SubClassOf 'primary ciliary dyskinesia' 'primary ciliary dyskinesia 5' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0012089 ichthyosis prematurity syndrome 'ichthyosis prematurity syndrome' SubClassOf 'syndromic disease' 'ichthyosis prematurity syndrome' SubClassOf 'genetic disorder' 'ichthyosis prematurity syndrome' SubClassOf 'pneumonitis' 'ichthyosis prematurity syndrome' SubClassOf 'integumentary system disease' 'ichthyosis prematurity syndrome' SubClassOf 'syndromic disease' 'ichthyosis prematurity syndrome' SubClassOf 'genetic disorder' 'ichthyosis prematurity syndrome' SubClassOf 'pneumonitis' 'ichthyosis prematurity syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0012083 autosomal dominant nonsyndromic hearing loss 28 'autosomal dominant nonsyndromic hearing loss 28' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 28' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0012080 neuronopathy, distal hereditary motor, type 2B 'neuronopathy, distal hereditary motor, type 2B' SubClassOf 'distal hereditary motor neuropathy type 2' 'neuronopathy, distal hereditary motor, type 2B' SubClassOf 'distal hereditary motor neuropathy type 2' http://purl.obolibrary.org/obo/MONDO_0012081 15q11q13 microduplication syndrome '15q11q13 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 15' '15q11q13 microduplication syndrome' SubClassOf 'predisposes towards' some 'autism' '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism' '15q11q13 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 15' http://purl.obolibrary.org/obo/MONDO_0012084 aromatic L-amino acid decarboxylase deficiency 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' http://purl.obolibrary.org/obo/MONDO_0012099 AICA-ribosiduria 'AICA-ribosiduria' SubClassOf 'inborn disorder of purine metabolism' 'AICA-ribosiduria' SubClassOf 'hereditary macular dystrophy' 'AICA-ribosiduria' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'AICA-ribosiduria' SubClassOf 'inborn disorder of purine metabolism' 'AICA-ribosiduria' SubClassOf 'hereditary macular dystrophy' 'AICA-ribosiduria' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012092 hereditary sensory and autonomic neuropathy type 5 'hereditary sensory and autonomic neuropathy type 5' SubClassOf 'hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 5' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0012098 spinocerebellar ataxia type 20 'spinocerebellar ataxia type 20' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 20' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0012095 intellectual disability-brachydactyly-Pierre Robin syndrome 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'dysostosis' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'genetic disorder' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'dysostosis' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012096 Charcot-Marie-Tooth disease axonal type 2L 'Charcot-Marie-Tooth disease axonal type 2L' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2L' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0002706 cervix endometriosis 'cervix endometriosis' SubClassOf 'cervix disorder' 'cervix endometriosis' SubClassOf 'endometriosis' 'cervix endometriosis' SubClassOf 'cervix disorder' 'cervix endometriosis' SubClassOf 'endometriosis' http://purl.obolibrary.org/obo/MONDO_0002708 retinitis 'retinitis' SubClassOf 'retinopathy' 'retinitis' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0002703 appendix mucinous cystadenocarcinoma 'appendix mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'appendix mucinous cystadenocarcinoma' SubClassOf 'mucinous adenocarcinoma of the appendix' 'appendix mucinous cystadenocarcinoma' SubClassOf 'mucinous adenocarcinoma of the appendix' 'appendix mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002705 breast mucinous cystadenocarcinoma 'breast mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'breast mucinous cystadenocarcinoma' SubClassOf 'breast adenocarcinoma' 'breast mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'breast mucinous cystadenocarcinoma' SubClassOf 'breast adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002710 infiltrating angiolipoma 'infiltrating angiolipoma' SubClassOf 'Angiolipoma' 'infiltrating angiolipoma' SubClassOf 'Angiolipoma' http://purl.obolibrary.org/obo/MONDO_0002718 central nervous system teratoma 'central nervous system teratoma' SubClassOf 'extragonadal teratoma' 'central nervous system teratoma' SubClassOf 'teratoma' 'central nervous system teratoma' SubClassOf 'extragonadal teratoma' 'central nervous system teratoma' SubClassOf 'teratoma' http://purl.obolibrary.org/obo/MONDO_0002715 uterine cancer 'uterine cancer' SubClassOf 'Genital neoplasm, female' 'uterine cancer' SubClassOf 'uterine neoplasm' 'uterine cancer' SubClassOf 'Genital neoplasm, female' 'uterine cancer' SubClassOf 'uterine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002720 sella turcica neoplasm 'sella turcica neoplasm' SubClassOf 'skull base neoplasm' 'sella turcica neoplasm' SubClassOf 'skull base neoplasm' http://purl.obolibrary.org/obo/MONDO_0002721 necrosis of pituitary 'necrosis of pituitary' SubClassOf 'pituitary gland disease' 'necrosis of pituitary' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0002722 olfactory nerve neoplasm 'olfactory nerve neoplasm' SubClassOf 'olfactory nerve disorder' 'olfactory nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'olfactory nerve neoplasm' SubClassOf 'olfactory nerve disorder' 'olfactory nerve neoplasm' SubClassOf 'cranial nerve neoplasm' http://purl.obolibrary.org/obo/MONDO_0002727 olfactory nerve disorder 'olfactory nerve disorder' SubClassOf 'cranial nerve neuropathy' 'olfactory nerve disorder' SubClassOf 'brain disease' 'olfactory nerve disorder' SubClassOf 'cranial nerve neuropathy' 'olfactory nerve disorder' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0002731 cerebral hemisphere cancer 'cerebral hemisphere cancer' SubClassOf 'supratentorial cancer' 'cerebral hemisphere cancer' SubClassOf 'neoplasm of cerebral hemisphere' 'cerebral hemisphere cancer' SubClassOf 'supratentorial cancer' 'cerebral hemisphere cancer' SubClassOf 'neoplasm of cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0002732 lung benign neoplasm 'lung benign neoplasm' SubClassOf 'thoracic benign neoplasm' 'lung benign neoplasm' SubClassOf 'lung neoplasm' 'lung benign neoplasm' SubClassOf 'respiratory system benign neoplasm' 'lung benign neoplasm' SubClassOf 'thoracic benign neoplasm' 'lung benign neoplasm' SubClassOf 'lung neoplasm' 'lung benign neoplasm' SubClassOf 'respiratory system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002734 anal mucinous adenocarcinoma 'anal mucinous adenocarcinoma' SubClassOf 'anus adenocarcinoma' 'anal mucinous adenocarcinoma' SubClassOf 'anus adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002730 childhood kidney neoplasm 'childhood kidney neoplasm' SubClassOf 'kidney neoplasm' 'childhood kidney neoplasm' SubClassOf 'childhood neoplasm' 'childhood kidney neoplasm' SubClassOf 'kidney neoplasm' 'childhood kidney neoplasm' SubClassOf 'childhood neoplasm' http://purl.obolibrary.org/obo/MONDO_0002739 extrahepatic bile duct mucinous adenocarcinoma 'extrahepatic bile duct mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'extrahepatic bile duct mucinous adenocarcinoma' SubClassOf 'extrahepatic bile duct adenocarcinoma' 'extrahepatic bile duct mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'extrahepatic bile duct mucinous adenocarcinoma' SubClassOf 'extrahepatic bile duct adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002735 anal canal adenocarcinoma 'anal canal adenocarcinoma' SubClassOf 'anal canal carcinoma' 'anal canal adenocarcinoma' SubClassOf 'anal canal carcinoma' http://purl.obolibrary.org/obo/MONDO_0002736 ampulla of vater mucinous adenocarcinoma 'ampulla of vater mucinous adenocarcinoma' SubClassOf 'ampulla of Vater adenocarcinoma' 'ampulla of vater mucinous adenocarcinoma' SubClassOf 'ampulla of Vater adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002738 acute transudative otitis media 'acute transudative otitis media' SubClassOf 'non-suppurative otitis media' 'acute transudative otitis media' SubClassOf 'non-suppurative otitis media' http://purl.obolibrary.org/obo/MONDO_0002742 cervical mucinous adenocarcinoma 'cervical mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'cervical mucinous adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'cervical mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'cervical mucinous adenocarcinoma' SubClassOf 'cervical adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002744 fallopian tube mucinous adenocarcinoma 'fallopian tube mucinous adenocarcinoma' SubClassOf 'fallopian tube adenocarcinoma' 'fallopian tube mucinous adenocarcinoma' SubClassOf 'fallopian tube mucinous tumor' 'fallopian tube mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'fallopian tube mucinous adenocarcinoma' SubClassOf 'fallopian tube adenocarcinoma' 'fallopian tube mucinous adenocarcinoma' SubClassOf 'fallopian tube mucinous tumor' 'fallopian tube mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' http://purl.obolibrary.org/obo/MONDO_0002745 fallopian tube mucinous tumor 'fallopian tube mucinous tumor' SubClassOf 'mucinous neoplasm' 'fallopian tube mucinous tumor' SubClassOf 'fallopian tube neoplasm' 'fallopian tube mucinous tumor' SubClassOf 'mucinous neoplasm' 'fallopian tube mucinous tumor' SubClassOf 'fallopian tube neoplasm' http://purl.obolibrary.org/obo/MONDO_0002740 uterine ligament mucinous adenocarcinoma 'uterine ligament mucinous adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' 'uterine ligament mucinous adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002741 uterine ligament adenocarcinoma 'uterine ligament adenocarcinoma' SubClassOf 'uterine ligament cancer' 'uterine ligament adenocarcinoma' SubClassOf 'uterine ligament cancer' http://www.ebi.ac.uk/efo/EFO_0009907 Desmoid-type fibromatosis 'Desmoid-type fibromatosis' SubClassOf 'Soft Tissue Neoplasm' 'Desmoid-type fibromatosis' SubClassOf 'fibromatosis' 'Desmoid-type fibromatosis' SubClassOf 'Soft Tissue Neoplasm' 'Desmoid-type fibromatosis' SubClassOf 'fibromatosis' http://purl.obolibrary.org/obo/MONDO_0002746 fallopian tube adenocarcinoma 'fallopian tube adenocarcinoma' SubClassOf 'adenocarcinoma' 'fallopian tube adenocarcinoma' SubClassOf 'Fallopian Tube Carcinoma' 'fallopian tube adenocarcinoma' SubClassOf 'adenocarcinoma' 'fallopian tube adenocarcinoma' SubClassOf 'Fallopian Tube Carcinoma' http://purl.obolibrary.org/obo/MONDO_0002748 rectum mucinous adenocarcinoma 'rectum mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'rectum mucinous adenocarcinoma' SubClassOf 'rectal adenocarcinoma' 'rectum mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'rectum mucinous adenocarcinoma' SubClassOf 'rectal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002749 extracranial neuroblastoma 'extracranial neuroblastoma' SubClassOf 'neuroblastoma' 'extracranial neuroblastoma' SubClassOf 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0002758 vulva verrucous carcinoma 'vulva verrucous carcinoma' SubClassOf 'Vulvar Squamous Cell Carcinoma' 'vulva verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'vulva verrucous carcinoma' SubClassOf 'Vulvar Squamous Cell Carcinoma' 'vulva verrucous carcinoma' SubClassOf 'verrucous carcinoma' http://purl.obolibrary.org/obo/MONDO_0002759 bladder verrucous carcinoma 'bladder verrucous carcinoma' SubClassOf 'Bladder Squamous Cell Carcinoma' 'bladder verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'bladder verrucous carcinoma' SubClassOf 'Bladder Squamous Cell Carcinoma' 'bladder verrucous carcinoma' SubClassOf 'verrucous carcinoma' http://purl.obolibrary.org/obo/MONDO_0002764 urethra squamous cell carcinoma 'urethra squamous cell carcinoma' SubClassOf 'carcinoma of urethra' 'urethra squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'urethra squamous cell carcinoma' SubClassOf 'carcinoma of urethra' 'urethra squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002765 plantar verrucous skin carcinoma 'plantar verrucous skin carcinoma' SubClassOf 'skin squamous cell carcinoma' 'plantar verrucous skin carcinoma' SubClassOf 'verrucous carcinoma' 'plantar verrucous skin carcinoma' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'plantar part of pes') 'plantar verrucous skin carcinoma' SubClassOf 'skin squamous cell carcinoma' 'plantar verrucous skin carcinoma' SubClassOf 'verrucous carcinoma' 'plantar verrucous skin carcinoma' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'plantar part of pes') http://purl.obolibrary.org/obo/MONDO_0002766 larynx verrucous carcinoma 'larynx verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'larynx verrucous carcinoma' SubClassOf 'laryngeal squamous cell carcinoma' 'larynx verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'larynx verrucous carcinoma' SubClassOf 'laryngeal squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0026730 Basilicata-Akhtar syndrome 'Basilicata-Akhtar syndrome' SubClassOf 'syndromic disease' 'Basilicata-Akhtar syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0002761 cervical verrucous carcinoma 'cervical verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'cervical verrucous carcinoma' SubClassOf 'cervical squamous cell carcinoma' 'cervical verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'cervical verrucous carcinoma' SubClassOf 'cervical squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002762 esophagus verrucous carcinoma 'esophagus verrucous carcinoma' SubClassOf 'esophageal squamous cell carcinoma' 'esophagus verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'esophagus verrucous carcinoma' SubClassOf 'esophageal squamous cell carcinoma' 'esophagus verrucous carcinoma' SubClassOf 'verrucous carcinoma' http://purl.obolibrary.org/obo/MONDO_0026733 intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type 'intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0002763 urethral verrucous carcinoma 'urethral verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'urethral verrucous carcinoma' SubClassOf 'urethra squamous cell carcinoma' 'urethral verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'urethral verrucous carcinoma' SubClassOf 'urethra squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002775 anovulation 'anovulation' SubClassOf 'ovarian disease' 'anovulation' SubClassOf 'ovarian disease' http://purl.obolibrary.org/obo/MONDO_0002772 intraventricular meningioma 'intraventricular meningioma' SubClassOf 'cerebral ventricle cancer' 'intraventricular meningioma' SubClassOf 'cerebral ventricle cancer' http://purl.obolibrary.org/obo/MONDO_0026722 Mullegama-Klein-Martinez syndrome 'Mullegama-Klein-Martinez syndrome' SubClassOf 'genetic disorder' 'Mullegama-Klein-Martinez syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002779 central nervous system chondroma 'central nervous system chondroma' SubClassOf 'Soft Tissue Chondroma' 'central nervous system chondroma' SubClassOf 'Soft Tissue Chondroma' http://purl.obolibrary.org/obo/MONDO_0002786 diencephalic cancer 'diencephalic cancer' SubClassOf 'supratentorial cancer' 'diencephalic cancer' SubClassOf 'supratentorial cancer' http://purl.obolibrary.org/obo/MONDO_0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type 'spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012103 spinocerebellar ataxia type 25 'spinocerebellar ataxia type 25' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 25' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0012104 acquired partial lipodystrophy 'acquired partial lipodystrophy' SubClassOf 'partial lipodystrophy' 'acquired partial lipodystrophy' SubClassOf 'acquired lipodystrophy' 'acquired partial lipodystrophy' SubClassOf 'partial lipodystrophy' 'acquired partial lipodystrophy' SubClassOf 'acquired lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0002797 childhood medulloblastoma 'childhood medulloblastoma' SubClassOf 'medulloblastoma' 'childhood medulloblastoma' SubClassOf 'childhood cerebellar neoplasm' 'childhood medulloblastoma' SubClassOf 'medulloblastoma' 'childhood medulloblastoma' SubClassOf 'childhood cerebellar neoplasm' http://purl.obolibrary.org/obo/MONDO_0002798 childhood central nervous system primitive neuroectodermal neoplasm 'childhood central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' 'childhood central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' http://purl.obolibrary.org/obo/MONDO_0002794 adult medulloblastoma 'adult medulloblastoma' SubClassOf 'medulloblastoma' 'adult medulloblastoma' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/MONDO_0002795 adult central nervous system primitive neuroectodermal neoplasm 'adult central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' 'adult central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation 'COG7-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG7-congenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG7-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG7-congenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' http://purl.obolibrary.org/obo/MONDO_0012112 hypertrophic cardiomyopathy 10 'hypertrophic cardiomyopathy 10' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 10' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency 'growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'growth hormone insensitivity syndrome' 'growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'growth hormone insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0012116 spinocerebellar ataxia type 8 'spinocerebellar ataxia type 8' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 8' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0012117 ALG9-congenital disorder of glycosylation 'ALG9-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG9-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG9-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG9-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0026777 VEXAS syndrome 'VEXAS syndrome' SubClassOf 'autoinflammatory syndrome' 'VEXAS syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0012123 congenital disorder of glycosylation type 1E 'congenital disorder of glycosylation type 1E' SubClassOf 'congenital disorder of glycosylation type I' 'congenital disorder of glycosylation type 1E' SubClassOf 'disorder of multiple glycosylation' 'congenital disorder of glycosylation type 1E' SubClassOf 'congenital disorder of glycosylation type I' 'congenital disorder of glycosylation type 1E' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0012124 sudden infant death-dysgenesis of the testes syndrome 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'respiratory system disease' 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0012127 autosomal recessive limb-girdle muscular dystrophy type 2J 'autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'autosomal recessive titinopathy' 'autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'autosomal recessive titinopathy' 'autosomal recessive limb-girdle muscular dystrophy type 2J' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0012128 transposition of the great arteries, dextro-looped 'transposition of the great arteries, dextro-looped' SubClassOf 'dextro-looped transposition of the great arteries' 'transposition of the great arteries, dextro-looped' SubClassOf 'dextro-looped transposition of the great arteries' http://purl.obolibrary.org/obo/MONDO_0012125 hypomyelinating leukodystrophy 2 'hypomyelinating leukodystrophy 2' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'hypomyelinating leukodystrophy 2' SubClassOf 'Pelizaeus-Merzbacher-like disease' http://purl.obolibrary.org/obo/MONDO_0012126 familial avascular necrosis of femoral head 'familial avascular necrosis of femoral head' SubClassOf 'osteonecrosis of genetic origin' 'familial avascular necrosis of femoral head' SubClassOf 'primary avascular necrosis' 'familial avascular necrosis of femoral head' SubClassOf 'osteonecrosis of genetic origin' 'familial avascular necrosis of femoral head' SubClassOf 'primary avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0012120 pyruvate dehydrogenase phosphatase deficiency 'pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0026767 immunodeficiency 74, COVID-19-related, X-linked 'immunodeficiency 74, COVID-19-related, X-linked' SubClassOf 'immunodeficiency disease' 'immunodeficiency 74, COVID-19-related, X-linked' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0012132 colorectal cancer, susceptibility to, 1 'colorectal cancer, susceptibility to, 1' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0012138 muscular dystrophy-dystroglycanopathy type B6 'muscular dystrophy-dystroglycanopathy type B6' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy type B6' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0012136 carnitine palmitoyl transferase II deficiency, neonatal form 'carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'carnitine palmitoyltransferase II deficiency' 'carnitine palmitoyl transferase II deficiency, neonatal form' SubClassOf 'carnitine palmitoyltransferase II deficiency' http://purl.obolibrary.org/obo/MONDO_0012137 Carney complex - trismus - pseudocamptodactyly syndrome 'Carney complex - trismus - pseudocamptodactyly syndrome' SubClassOf 'Carney complex' 'Carney complex - trismus - pseudocamptodactyly syndrome' SubClassOf 'heart-hand syndrome' 'Carney complex - trismus - pseudocamptodactyly syndrome' SubClassOf 'Carney complex' 'Carney complex - trismus - pseudocamptodactyly syndrome' SubClassOf 'heart-hand syndrome' http://purl.obolibrary.org/obo/MONDO_0012130 myofibrillar myopathy 2 'myofibrillar myopathy 2' SubClassOf 'autosomal dominant distal myopathy' 'myofibrillar myopathy 2' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0002588 thymoma type A 'thymoma type A' SubClassOf 'Thymoma' 'thymoma type A' SubClassOf 'Thymoma' http://purl.obolibrary.org/obo/MONDO_0002586 thymus cancer 'thymus cancer' SubClassOf 'thymus neoplasm' 'thymus cancer' SubClassOf 'thymus neoplasm' http://purl.obolibrary.org/obo/MONDO_0002580 orbit rhabdomyosarcoma 'orbit rhabdomyosarcoma' SubClassOf 'orbit sarcoma' 'orbit rhabdomyosarcoma' SubClassOf 'orbit sarcoma' http://purl.obolibrary.org/obo/MONDO_0002581 spindle cell rhabdomyosarcoma 'spindle cell rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'spindle cell rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002583 mucinous ovarian cystadenoma 'mucinous ovarian cystadenoma' SubClassOf 'mucinous cystadenoma' 'mucinous ovarian cystadenoma' SubClassOf 'simple cystadenoma' 'mucinous ovarian cystadenoma' SubClassOf 'mucinous cystadenoma' 'mucinous ovarian cystadenoma' SubClassOf 'simple cystadenoma' http://purl.obolibrary.org/obo/MONDO_0002597 notochordal tumor 'notochordal tumor' SubClassOf 'embryonal neoplasm' 'notochordal tumor' SubClassOf 'bone neoplasm' 'notochordal tumor' SubClassOf 'embryonal neoplasm' 'notochordal tumor' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0002598 germinoma 'germinoma' SubClassOf 'Malignant Germ Cell Tumor' 'germinoma' SubClassOf 'Malignant Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0002592 invasive malignant thymoma 'invasive malignant thymoma' SubClassOf 'Thymoma' 'invasive malignant thymoma' SubClassOf 'Thymoma' http://www.ebi.ac.uk/efo/EFO_0005046 cutaneous Leishmaniasis 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0005044 Leishmaniasis 'Leishmaniasis' SubClassOf 'protozoa infectious disease' 'Leishmaniasis' SubClassOf 'vector-borne disease' 'Leishmaniasis' SubClassOf 'protozoa infectious disease' 'Leishmaniasis' SubClassOf 'vector-borne disease' http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' http://purl.obolibrary.org/obo/GO_0043170 macromolecule metabolic process 'macromolecule metabolic process' SubClassOf 'organic substance metabolic process' 'macromolecule metabolic process' SubClassOf 'metabolic process' http://www.ebi.ac.uk/efo/EFO_0005088 testicular carcinoma 'testicular carcinoma' SubClassOf 'male reproductive organ cancer' 'testicular carcinoma' SubClassOf 'neoplasm of testis' 'testicular carcinoma' SubClassOf 'male reproductive organ cancer' 'testicular carcinoma' SubClassOf 'neoplasm of testis' http://purl.obolibrary.org/obo/MONDO_0002601 teratoma 'teratoma' SubClassOf 'nongerminomatous germ cell tumor' 'teratoma' SubClassOf 'nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0002603 angiomyolipoma 'angiomyolipoma' SubClassOf 'PEComa' 'angiomyolipoma' SubClassOf 'PEComa' http://purl.obolibrary.org/obo/MONDO_0002604 pericytic neoplasm 'pericytic neoplasm' SubClassOf 'mesenchymal cell neoplasm' 'pericytic neoplasm' SubClassOf 'mesenchymal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0002605 hepatic angiomyolipoma 'hepatic angiomyolipoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'hepatic angiomyolipoma' SubClassOf 'angiomyolipoma' 'hepatic angiomyolipoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'hepatic angiomyolipoma' SubClassOf 'angiomyolipoma' http://purl.obolibrary.org/obo/MONDO_0002606 epithelioid type angiomyolipoma 'epithelioid type angiomyolipoma' SubClassOf 'angiomyolipoma' 'epithelioid type angiomyolipoma' SubClassOf 'angiomyolipoma' http://purl.obolibrary.org/obo/MONDO_0002610 purpura 'purpura' SubClassOf 'hemorrhagic disease' 'purpura' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0002612 frontal lobe epilepsy 'frontal lobe epilepsy' SubClassOf 'partial epilepsy' 'frontal lobe epilepsy' SubClassOf 'partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0002618 undifferentiated high grade pleomorphic sarcoma of bone 'undifferentiated high grade pleomorphic sarcoma of bone' SubClassOf 'bone sarcoma' 'undifferentiated high grade pleomorphic sarcoma of bone' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002619 bone fibrosarcoma 'bone fibrosarcoma' SubClassOf 'bone sarcoma' 'bone fibrosarcoma' SubClassOf 'fibrosarcoma' 'bone fibrosarcoma' SubClassOf 'bone sarcoma' 'bone fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0002614 bone inflammation disease 'bone inflammation disease' SubClassOf 'bone disease' 'bone inflammation disease' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0002615 xanthomatosis 'xanthomatosis' SubClassOf 'lysosomal lipid storage disorder' 'xanthomatosis' SubClassOf 'lysosomal lipid storage disorder' http://purl.obolibrary.org/obo/MONDO_0002616 mesenchymal cell neoplasm 'mesenchymal cell neoplasm' SubClassOf 'neoplasm' 'mesenchymal cell neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0002617 bone angiosarcoma 'bone angiosarcoma' SubClassOf 'angiosarcoma' 'bone angiosarcoma' SubClassOf 'vascular bone neoplasm' 'bone angiosarcoma' SubClassOf 'bone sarcoma' 'bone angiosarcoma' SubClassOf 'angiosarcoma' 'bone angiosarcoma' SubClassOf 'vascular bone neoplasm' 'bone angiosarcoma' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002621 extraosseous osteosarcoma 'extraosseous osteosarcoma' SubClassOf 'osteosarcoma' 'extraosseous osteosarcoma' SubClassOf 'soft tissue sarcoma' 'extraosseous osteosarcoma' SubClassOf 'osteosarcoma' 'extraosseous osteosarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002623 pediatric osteosarcoma 'pediatric osteosarcoma' SubClassOf 'childhood cancer' 'pediatric osteosarcoma' SubClassOf 'osteosarcoma' 'pediatric osteosarcoma' SubClassOf 'childhood cancer' 'pediatric osteosarcoma' SubClassOf 'osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0002624 bone leiomyosarcoma 'bone leiomyosarcoma' SubClassOf 'bone sarcoma' 'bone leiomyosarcoma' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002629 bone osteosarcoma 'bone osteosarcoma' SubClassOf 'bone sarcoma' 'bone osteosarcoma' SubClassOf 'osteosarcoma' 'bone osteosarcoma' SubClassOf 'bone sarcoma' 'bone osteosarcoma' SubClassOf 'osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0002625 Ewing sarcoma of bone 'Ewing sarcoma of bone' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone' 'Ewing sarcoma of bone' SubClassOf 'Ewing sarcoma' 'Ewing sarcoma of bone' SubClassOf 'bone sarcoma' 'Ewing sarcoma of bone' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone' 'Ewing sarcoma of bone' SubClassOf 'Ewing sarcoma' 'Ewing sarcoma of bone' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002627 chondroblastic osteosarcoma 'chondroblastic osteosarcoma' SubClassOf 'conventional osteosarcoma' 'chondroblastic osteosarcoma' SubClassOf 'conventional osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0002628 peripheral osteosarcoma 'peripheral osteosarcoma' SubClassOf 'bone osteosarcoma' 'peripheral osteosarcoma' SubClassOf 'bone osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0002633 cranial nerve neoplasm 'cranial nerve neoplasm' SubClassOf 'cranial nerve neuropathy' 'cranial nerve neoplasm' SubClassOf 'tumour of cranial and spinal nerves' 'cranial nerve neoplasm' SubClassOf 'cranial nerve neuropathy' 'cranial nerve neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://purl.obolibrary.org/obo/MONDO_0002634 liposarcoma of bone 'liposarcoma of bone' SubClassOf 'liposarcoma' 'liposarcoma of bone' SubClassOf 'bone sarcoma' 'liposarcoma of bone' SubClassOf 'liposarcoma' 'liposarcoma of bone' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002635 periodontal disorder 'periodontal disorder' SubClassOf 'tooth disease' 'periodontal disorder' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0002630 small cell osteogenic sarcoma 'small cell osteogenic sarcoma' SubClassOf 'small cell sarcoma' 'small cell osteogenic sarcoma' SubClassOf 'small cell sarcoma' http://purl.obolibrary.org/obo/MONDO_0002631 conventional osteosarcoma 'conventional osteosarcoma' SubClassOf 'bone osteosarcoma' 'conventional osteosarcoma' SubClassOf 'bone osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0002645 cerebritis 'cerebritis' SubClassOf 'brain disease' 'cerebritis' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0002646 viral laryngitis 'viral laryngitis' SubClassOf 'acute laryngitis' 'viral laryngitis' SubClassOf 'acute laryngitis' http://purl.obolibrary.org/obo/MONDO_0002642 trochlear nerve neoplasm 'trochlear nerve neoplasm' SubClassOf 'trochlear nerve disease' 'trochlear nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'trochlear nerve neoplasm' SubClassOf 'trochlear nerve disease' 'trochlear nerve neoplasm' SubClassOf 'cranial nerve neoplasm' http://purl.obolibrary.org/obo/MONDO_0002647 laryngitis 'laryngitis' SubClassOf 'inflammatory disease' 'laryngitis' SubClassOf 'laryngeal disease' 'laryngitis' SubClassOf 'inflammatory disease' 'laryngitis' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0002648 mammary Paget disease 'mammary Paget disease' SubClassOf 'Paget disease' 'mammary Paget disease' SubClassOf 'breast adenocarcinoma' 'mammary Paget disease' SubClassOf 'Paget disease' 'mammary Paget disease' SubClassOf 'breast adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002649 scrotum Paget disease 'scrotum Paget disease' SubClassOf 'scrotal carcinoma' 'scrotum Paget disease' SubClassOf 'Paget disease' 'scrotum Paget disease' SubClassOf 'scrotal carcinoma' 'scrotum Paget disease' SubClassOf 'Paget disease' http://purl.obolibrary.org/obo/MONDO_0002654 uterine disorder 'uterine disorder' SubClassOf 'female reproductive system disease' 'uterine disorder' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0002655 cutaneous Paget disease 'cutaneous Paget disease' SubClassOf 'skin carcinoma' 'cutaneous Paget disease' SubClassOf 'skin carcinoma' http://purl.obolibrary.org/obo/MONDO_0002650 scrotal carcinoma 'scrotal carcinoma' SubClassOf 'carcinoma' 'scrotal carcinoma' SubClassOf 'scrotum cancer' 'scrotal carcinoma' SubClassOf 'carcinoma' 'scrotal carcinoma' SubClassOf 'scrotum cancer' http://purl.obolibrary.org/obo/MONDO_0002651 anal Paget disease 'anal Paget disease' SubClassOf 'Extramammary Paget Disease' 'anal Paget disease' SubClassOf 'anus adenocarcinoma' 'anal Paget disease' SubClassOf 'Extramammary Paget Disease' 'anal Paget disease' SubClassOf 'anus adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002652 anus adenocarcinoma 'anus adenocarcinoma' SubClassOf 'anal carcinoma' 'anus adenocarcinoma' SubClassOf 'anal carcinoma' http://purl.obolibrary.org/obo/MONDO_0002653 Paget disease of the penis 'Paget disease of the penis' SubClassOf 'Penile Carcinoma' 'Paget disease of the penis' SubClassOf 'Extramammary Paget Disease' 'Paget disease of the penis' SubClassOf 'Penile Carcinoma' 'Paget disease of the penis' SubClassOf 'Extramammary Paget Disease' http://purl.obolibrary.org/obo/MONDO_0002665 extrahepatic bile duct adenocarcinoma 'extrahepatic bile duct adenocarcinoma' SubClassOf 'bile duct adenocarcinoma' 'extrahepatic bile duct adenocarcinoma' SubClassOf 'extrahepatic bile duct carcinoma' 'extrahepatic bile duct adenocarcinoma' SubClassOf 'bile duct adenocarcinoma' 'extrahepatic bile duct adenocarcinoma' SubClassOf 'extrahepatic bile duct carcinoma' http://purl.obolibrary.org/obo/MONDO_0002666 pancreatic signet ring cell adenocarcinoma 'pancreatic signet ring cell adenocarcinoma' SubClassOf 'pancreatic ductal adenocarcinoma' 'pancreatic signet ring cell adenocarcinoma' SubClassOf 'signet ring cell carcinoma' 'pancreatic signet ring cell adenocarcinoma' SubClassOf 'pancreatic ductal adenocarcinoma' 'pancreatic signet ring cell adenocarcinoma' SubClassOf 'signet ring cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002667 gallbladder signet ring cell adenocarcinoma 'gallbladder signet ring cell adenocarcinoma' SubClassOf 'Gallbladder Adenocarcinoma' 'gallbladder signet ring cell adenocarcinoma' SubClassOf 'signet ring cell carcinoma' 'gallbladder signet ring cell adenocarcinoma' SubClassOf 'Gallbladder Adenocarcinoma' 'gallbladder signet ring cell adenocarcinoma' SubClassOf 'signet ring cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002661 uveal disorder 'uveal disorder' SubClassOf 'eye disease' 'uveal disorder' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0002664 extrahepatic bile duct signet ring cell carcinoma 'extrahepatic bile duct signet ring cell carcinoma' SubClassOf 'signet ring cell carcinoma' 'extrahepatic bile duct signet ring cell carcinoma' SubClassOf 'extrahepatic bile duct adenocarcinoma' 'extrahepatic bile duct signet ring cell carcinoma' SubClassOf 'signet ring cell carcinoma' 'extrahepatic bile duct signet ring cell carcinoma' SubClassOf 'extrahepatic bile duct adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002676 adult fibrosarcoma 'adult fibrosarcoma' SubClassOf 'conventional fibrosarcoma' 'adult fibrosarcoma' SubClassOf 'conventional fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0002677 conventional fibrosarcoma 'conventional fibrosarcoma' SubClassOf 'fibrosarcoma' 'conventional fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0002678 pediatric fibrosarcoma 'pediatric fibrosarcoma' SubClassOf 'childhood cancer' 'pediatric fibrosarcoma' SubClassOf 'fibrosarcoma' 'pediatric fibrosarcoma' SubClassOf 'fibrosarcoma' 'pediatric fibrosarcoma' SubClassOf 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0002679 cerebral infarction 'cerebral infarction' SubClassOf 'brain infarction' 'cerebral infarction' SubClassOf 'brain infarction' http://purl.obolibrary.org/obo/MONDO_0002672 acinar prostate adenocarcinoma, signet ring variant 'acinar prostate adenocarcinoma, signet ring variant' SubClassOf 'prostatic acinar adenocarcinoma' 'acinar prostate adenocarcinoma, signet ring variant' SubClassOf 'signet ring cell carcinoma' 'acinar prostate adenocarcinoma, signet ring variant' SubClassOf 'prostatic acinar adenocarcinoma' 'acinar prostate adenocarcinoma, signet ring variant' SubClassOf 'signet ring cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002674 stricture or kinking of ureter 'stricture or kinking of ureter' SubClassOf 'kidney disease' 'stricture or kinking of ureter' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0002671 signet ring cell breast carcinoma 'signet ring cell breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'signet ring cell breast carcinoma' SubClassOf 'breast adenocarcinoma' 'signet ring cell breast carcinoma' SubClassOf 'signet ring cell carcinoma' 'signet ring cell breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'signet ring cell breast carcinoma' SubClassOf 'breast adenocarcinoma' 'signet ring cell breast carcinoma' SubClassOf 'signet ring cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002683 adult choroid plexus neoplasm 'adult choroid plexus neoplasm' SubClassOf 'choroid plexus neoplasm' 'adult choroid plexus neoplasm' SubClassOf 'choroid plexus neoplasm' http://purl.obolibrary.org/obo/MONDO_0002684 atypical choroid plexus papilloma 'atypical choroid plexus papilloma' SubClassOf 'choroid plexus neoplasm' 'atypical choroid plexus papilloma' SubClassOf 'choroid plexus neoplasm' http://purl.obolibrary.org/obo/MONDO_0002685 childhood choroid plexus carcinoma 'childhood choroid plexus carcinoma' SubClassOf 'supratentorial cancer' 'childhood choroid plexus carcinoma' SubClassOf 'childhood choroid plexus neoplasm' 'childhood choroid plexus carcinoma' SubClassOf 'supratentorial cancer' 'childhood choroid plexus carcinoma' SubClassOf 'childhood choroid plexus neoplasm' http://purl.obolibrary.org/obo/MONDO_0012008 Lelis syndrome 'Lelis syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Lelis syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0012009 coronary heart disease, susceptibility to, 2 'coronary heart disease, susceptibility to, 2' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary heart disease, susceptibility to, 2' SubClassOf 'inherited disease susceptibility' 'coronary heart disease, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' 'coronary heart disease, susceptibility to, 2' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 'scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities' SubClassOf 'genetic disorder' 'scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002698 testicular gonadoblastoma 'testicular gonadoblastoma' SubClassOf 'gonadoblastoma' 'testicular gonadoblastoma' SubClassOf 'gonadoblastoma' http://purl.obolibrary.org/obo/MONDO_0002697 ovarian gonadoblastoma 'ovarian gonadoblastoma' SubClassOf 'gonadoblastoma' 'ovarian gonadoblastoma' SubClassOf 'gonadoblastoma' http://purl.obolibrary.org/obo/MONDO_0002691 liver cancer 'liver cancer' SubClassOf 'digestive system cancer' 'liver cancer' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'liver cancer' SubClassOf 'digestive system cancer' 'liver cancer' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0012019 spondyloepiphyseal dysplasia, Kimberley type 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012013 Weill-Marchesani syndrome 2, dominant 'Weill-Marchesani syndrome 2, dominant' SubClassOf 'Weill-Marchesani syndrome' 'Weill-Marchesani syndrome 2, dominant' SubClassOf 'Weill-Marchesani syndrome' http://purl.obolibrary.org/obo/MONDO_0012014 Charcot-Marie-Tooth disease recessive intermediate A 'Charcot-Marie-Tooth disease recessive intermediate A' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease recessive intermediate A' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0012012 Charcot-Marie-Tooth disease dominant intermediate C 'Charcot-Marie-Tooth disease dominant intermediate C' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease dominant intermediate C' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0012016 capillary malformation-arteriovenous malformation syndrome 'capillary malformation-arteriovenous malformation syndrome' SubClassOf 'genetic disorder' 'capillary malformation-arteriovenous malformation syndrome' SubClassOf 'capillary malformation' 'capillary malformation-arteriovenous malformation syndrome' SubClassOf 'genetic disorder' 'capillary malformation-arteriovenous malformation syndrome' SubClassOf 'capillary malformation' http://purl.obolibrary.org/obo/MONDO_0002468 hyperimmunoglobulin syndrome 'hyperimmunoglobulin syndrome' SubClassOf 'B cell deficiency' 'hyperimmunoglobulin syndrome' SubClassOf 'B cell deficiency' http://purl.obolibrary.org/obo/MONDO_0002469 lacrimal gland carcinoma ex pleomorphic adenoma 'lacrimal gland carcinoma ex pleomorphic adenoma' SubClassOf 'carcinoma ex pleomorphic adenoma' 'lacrimal gland carcinoma ex pleomorphic adenoma' SubClassOf 'lacrimal gland carcinoma' 'lacrimal gland carcinoma ex pleomorphic adenoma' SubClassOf 'carcinoma ex pleomorphic adenoma' 'lacrimal gland carcinoma ex pleomorphic adenoma' SubClassOf 'lacrimal gland carcinoma' http://purl.obolibrary.org/obo/MONDO_0002463 lacrimal gland carcinoma 'lacrimal gland carcinoma' SubClassOf 'eye carcinoma' 'lacrimal gland carcinoma' SubClassOf 'lacrimal gland cancer' 'lacrimal gland carcinoma' SubClassOf 'eye carcinoma' 'lacrimal gland carcinoma' SubClassOf 'lacrimal gland cancer' http://purl.obolibrary.org/obo/MONDO_0002464 lacrimal gland cancer 'lacrimal gland cancer' SubClassOf 'lacrimal gland neoplasm' 'lacrimal gland cancer' SubClassOf 'lacrimal system cancer' 'lacrimal gland cancer' SubClassOf 'lacrimal gland neoplasm' 'lacrimal gland cancer' SubClassOf 'lacrimal system cancer' http://purl.obolibrary.org/obo/MONDO_0002465 bronchiolitis 'bronchiolitis' SubClassOf 'lung disease' 'bronchiolitis' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/MONDO_0002466 eye carcinoma 'eye carcinoma' SubClassOf 'ocular cancer' 'eye carcinoma' SubClassOf 'ocular cancer' http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis 'glomerulonephritis' SubClassOf 'glomerular disease' 'glomerulonephritis' SubClassOf 'nephritis' 'glomerulonephritis' SubClassOf 'glomerular disease' 'glomerulonephritis' SubClassOf 'nephritis' http://purl.obolibrary.org/obo/MONDO_0002478 mixed germ cell-sex cord-stromal tumor 'mixed germ cell-sex cord-stromal tumor' SubClassOf 'mixed neoplasm' 'mixed germ cell-sex cord-stromal tumor' SubClassOf 'mixed neoplasm' http://purl.obolibrary.org/obo/MONDO_0002474 primary hyperoxaluria 'primary hyperoxaluria' SubClassOf 'inborn carbohydrate metabolic disorder' 'primary hyperoxaluria' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0002475 lacrimal gland adenocarcinoma 'lacrimal gland adenocarcinoma' SubClassOf 'lacrimal gland carcinoma' 'lacrimal gland adenocarcinoma' SubClassOf 'adenocarcinoma' 'lacrimal gland adenocarcinoma' SubClassOf 'lacrimal gland carcinoma' 'lacrimal gland adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002477 prostate neuroendocrine neoplasm 'prostate neuroendocrine neoplasm' SubClassOf 'prostate neoplasm' 'prostate neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'prostate neuroendocrine neoplasm' SubClassOf 'prostate neoplasm' 'prostate neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002471 bursitis 'bursitis' SubClassOf 'joint disease' 'bursitis' SubClassOf 'inflammatory disease' 'bursitis' SubClassOf 'joint disease' 'bursitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0002472 carcinoma ex pleomorphic adenoma 'carcinoma ex pleomorphic adenoma' SubClassOf 'carcinoma' 'carcinoma ex pleomorphic adenoma' SubClassOf 'Malignant Mixed Neoplasm' 'carcinoma ex pleomorphic adenoma' SubClassOf 'carcinoma' 'carcinoma ex pleomorphic adenoma' SubClassOf 'Malignant Mixed Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002485 breast neuroendocrine neoplasm 'breast neuroendocrine neoplasm' SubClassOf 'breast neoplasm' 'breast neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'breast neuroendocrine neoplasm' SubClassOf 'breast neoplasm' 'breast neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002486 lobular neoplasia 'lobular neoplasia' SubClassOf 'breast carcinoma in situ' 'lobular neoplasia' SubClassOf 'breast carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0002487 breast granular cell tumor 'breast granular cell tumor' SubClassOf 'Granular Cell Tumor' 'breast granular cell tumor' SubClassOf 'breast neoplasm' 'breast granular cell tumor' SubClassOf 'Granular Cell Tumor' 'breast granular cell tumor' SubClassOf 'breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0002488 intraductal breast neoplasm 'intraductal breast neoplasm' SubClassOf 'breast neoplasm' 'intraductal breast neoplasm' SubClassOf 'breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0002481 ovarian neuroendocrine neoplasm 'ovarian neuroendocrine neoplasm' SubClassOf 'ovarian cancer' 'ovarian neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'ovarian neuroendocrine neoplasm' SubClassOf 'ovarian cancer' 'ovarian neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002482 nipple neoplasm 'nipple neoplasm' SubClassOf 'breast neoplasm' 'nipple neoplasm' SubClassOf 'breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0002483 breast myoepithelial tumor 'breast myoepithelial tumor' SubClassOf 'breast neoplasm' 'breast myoepithelial tumor' SubClassOf 'myoepithelial tumor' 'breast myoepithelial tumor' SubClassOf 'breast neoplasm' 'breast myoepithelial tumor' SubClassOf 'myoepithelial tumor' http://purl.obolibrary.org/obo/MONDO_0002480 endometrioid tumor 'endometrioid tumor' SubClassOf 'female reproductive system neoplasm' 'endometrioid tumor' SubClassOf 'epithelial neoplasm' 'endometrioid tumor' SubClassOf 'female reproductive system neoplasm' 'endometrioid tumor' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002492 acute kidney failure 'acute kidney failure' SubClassOf 'kidney failure' 'acute kidney failure' SubClassOf 'kidney failure' http://purl.obolibrary.org/obo/MONDO_0002493 prostatic acinar adenocarcinoma 'prostatic acinar adenocarcinoma' SubClassOf 'acinar cell carcinoma' 'prostatic acinar adenocarcinoma' SubClassOf 'prostate adenocarcinoma' 'prostatic acinar adenocarcinoma' EquivalentTo 'acinar cell carcinoma' and 'prostate adenocarcinoma' 'prostatic acinar adenocarcinoma' SubClassOf 'acinar cell carcinoma' 'prostatic acinar adenocarcinoma' SubClassOf 'prostate adenocarcinoma' 'prostatic acinar adenocarcinoma' EquivalentTo 'acinar cell carcinoma' and 'prostate adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002494 substance-related disorder 'substance-related disorder' SubClassOf 'psychiatric disorder' 'substance-related disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0002495 colon signet ring cell adenocarcinoma 'colon signet ring cell adenocarcinoma' SubClassOf 'colon adenocarcinoma' 'colon signet ring cell adenocarcinoma' SubClassOf 'colon adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002490 breast sarcoma 'breast sarcoma' SubClassOf 'soft tissue sarcoma' 'breast sarcoma' SubClassOf 'breast cancer' 'breast sarcoma' SubClassOf 'soft tissue sarcoma' 'breast sarcoma' SubClassOf 'breast cancer' http://purl.obolibrary.org/obo/MONDO_0002491 substance abuse 'substance abuse' SubClassOf 'substance-related disorder' 'substance abuse' SubClassOf 'substance-related disorder' http://purl.obolibrary.org/obo/GO_0008614 pyridoxine metabolic process 'pyridoxine metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/GO_0008611 ether lipid biosynthetic process 'ether lipid biosynthetic process' SubClassOf 'organic substance biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0002503 adult astrocytic tumor 'adult astrocytic tumor' SubClassOf 'astrocytic tumor' 'adult astrocytic tumor' SubClassOf 'astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0002508 gingivitis 'gingivitis' SubClassOf 'gingival disease' 'gingivitis' SubClassOf 'gingival disease' http://purl.obolibrary.org/obo/MONDO_0002505 childhood astrocytic tumor 'childhood astrocytic tumor' SubClassOf 'astrocytic tumor' 'childhood astrocytic tumor' SubClassOf 'astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0002507 gingival overgrowth 'gingival overgrowth' SubClassOf 'gingival disease' 'gingival overgrowth' SubClassOf 'gingival disease' http://purl.obolibrary.org/obo/MONDO_0002512 papillary adenocarcinoma 'papillary adenocarcinoma' EquivalentTo 'adenocarcinoma' and 'papillary carcinoma' 'papillary adenocarcinoma' SubClassOf 'adenocarcinoma' 'papillary adenocarcinoma' SubClassOf 'papillary carcinoma' 'papillary adenocarcinoma' EquivalentTo 'adenocarcinoma' and 'papillary carcinoma' 'papillary adenocarcinoma' SubClassOf 'adenocarcinoma' 'papillary adenocarcinoma' SubClassOf 'papillary carcinoma' http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm 'kidney benign neoplasm' SubClassOf 'kidney neoplasm' 'kidney benign neoplasm' SubClassOf 'benign urinary system neoplasm' 'kidney benign neoplasm' SubClassOf 'kidney neoplasm' 'kidney benign neoplasm' SubClassOf 'benign urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0002516 digestive system cancer 'digestive system cancer' SubClassOf 'digestive system disease' 'digestive system cancer' SubClassOf 'cancer' 'digestive system cancer' SubClassOf 'digestive system neoplasm' 'digestive system cancer' SubClassOf 'digestive system disease' 'digestive system cancer' SubClassOf 'cancer' 'digestive system cancer' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0002518 gallbladder papillary neoplasm 'gallbladder papillary neoplasm' SubClassOf 'gallbladder neoplasm' 'gallbladder papillary neoplasm' SubClassOf 'papillary epithelial neoplasm' 'gallbladder papillary neoplasm' SubClassOf 'gallbladder neoplasm' 'gallbladder papillary neoplasm' SubClassOf 'papillary epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder 'inherited lipid metabolism disorder' SubClassOf 'inborn errors of metabolism' 'inherited lipid metabolism disorder' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0002520 hepatic porphyria 'hepatic porphyria' SubClassOf 'porphyria' 'hepatic porphyria' SubClassOf 'liver disease' 'hepatic porphyria' SubClassOf 'porphyria' 'hepatic porphyria' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0002527 keratoacanthoma 'keratoacanthoma' SubClassOf 'disease shares features of' some 'squamous cell carcinoma' 'keratoacanthoma' SubClassOf 'epithelial skin neoplasm' 'keratoacanthoma' SubClassOf 'epithelial skin neoplasm' 'keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002528 synovium neoplasm 'synovium neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'synovium neoplasm' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002529 skin squamous cell carcinoma 'skin squamous cell carcinoma' SubClassOf 'skin carcinoma' 'skin squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'skin squamous cell carcinoma' SubClassOf 'skin carcinoma' 'skin squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002533 papillary adenoma 'papillary adenoma' SubClassOf 'papillary epithelial neoplasm' 'papillary adenoma' SubClassOf 'adenoma' 'papillary adenoma' EquivalentTo 'papillary epithelial neoplasm' and 'adenoma' 'papillary adenoma' SubClassOf 'papillary epithelial neoplasm' 'papillary adenoma' SubClassOf 'adenoma' 'papillary adenoma' EquivalentTo 'papillary epithelial neoplasm' and 'adenoma' http://purl.obolibrary.org/obo/MONDO_0002534 fallopian tube papilloma 'fallopian tube papilloma' SubClassOf 'fallopian tube benign neoplasm' 'fallopian tube papilloma' SubClassOf 'papilloma' 'fallopian tube papilloma' SubClassOf 'fallopian tube benign neoplasm' 'fallopian tube papilloma' SubClassOf 'papilloma' http://purl.obolibrary.org/obo/MONDO_0002536 skin papilloma 'skin papilloma' SubClassOf 'papilloma' 'skin papilloma' SubClassOf 'papilloma' http://purl.obolibrary.org/obo/MONDO_0002532 squamous cell neoplasm 'squamous cell neoplasm' SubClassOf 'epithelial neoplasm' 'squamous cell neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002537 inverted papilloma 'inverted papilloma' SubClassOf 'papilloma' 'inverted papilloma' SubClassOf 'papilloma' http://purl.obolibrary.org/obo/MONDO_0002544 brain oligodendroglioma 'brain oligodendroglioma' SubClassOf 'oligodendroglioma' 'brain oligodendroglioma' SubClassOf 'brain glioma' 'brain oligodendroglioma' SubClassOf 'oligodendroglioma' 'brain oligodendroglioma' SubClassOf 'brain glioma' http://purl.obolibrary.org/obo/MONDO_0002547 nerve sheath neoplasm 'nerve sheath neoplasm' SubClassOf 'tumour of cranial and spinal nerves' 'nerve sheath neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://purl.obolibrary.org/obo/MONDO_0002540 childhood oligodendroglioma 'childhood oligodendroglioma' SubClassOf 'oligodendroglioma' 'childhood oligodendroglioma' SubClassOf 'oligodendroglioma' http://purl.obolibrary.org/obo/MONDO_0002541 spinal cord oligodendroglioma 'spinal cord oligodendroglioma' SubClassOf 'oligodendroglioma' 'spinal cord oligodendroglioma' SubClassOf 'spinal cord glioma' 'spinal cord oligodendroglioma' SubClassOf 'oligodendroglioma' 'spinal cord oligodendroglioma' SubClassOf 'spinal cord glioma' http://purl.obolibrary.org/obo/MONDO_0002542 spinal cord glioma 'spinal cord glioma' SubClassOf 'spinal cord cancer' 'spinal cord glioma' SubClassOf 'malignant glioma' 'spinal cord glioma' SubClassOf 'spinal cord cancer' 'spinal cord glioma' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0002543 adult oligodendroglioma 'adult oligodendroglioma' SubClassOf 'oligodendroglioma' 'adult oligodendroglioma' SubClassOf 'oligodendroglioma' http://purl.obolibrary.org/obo/MONDO_0002548 cellular schwannoma 'cellular schwannoma' SubClassOf 'schwannoma' 'cellular schwannoma' SubClassOf 'schwannoma' http://purl.obolibrary.org/obo/MONDO_0002555 trigeminal schwannoma 'trigeminal schwannoma' SubClassOf 'trigeminal nerve neoplasm' 'trigeminal schwannoma' SubClassOf 'schwannoma' 'trigeminal schwannoma' SubClassOf 'trigeminal nerve neoplasm' 'trigeminal schwannoma' SubClassOf 'schwannoma' http://purl.obolibrary.org/obo/MONDO_0002558 melanotic neurilemmoma 'melanotic neurilemmoma' SubClassOf 'schwannoma' 'melanotic neurilemmoma' SubClassOf 'schwannoma' http://purl.obolibrary.org/obo/MONDO_0002567 tracheal disorder 'tracheal disorder' SubClassOf 'upper respiratory tract disorder' 'tracheal disorder' SubClassOf 'upper respiratory tract disorder' http://purl.obolibrary.org/obo/MONDO_0002562 demyelinating disease 'demyelinating disease' SubClassOf 'neurodegenerative disease' 'demyelinating disease' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0002564 jejunal neoplasm 'jejunal neoplasm' SubClassOf 'small intestine neoplasm' 'jejunal neoplasm' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism' 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0002577 extrahepatic bile duct rhabdomyosarcoma 'extrahepatic bile duct rhabdomyosarcoma' SubClassOf 'extrahepatic bile duct sarcoma' 'extrahepatic bile duct rhabdomyosarcoma' SubClassOf 'extrahepatic bile duct sarcoma' http://purl.obolibrary.org/obo/MONDO_0002579 orbit embryonal rhabdomyosarcoma 'orbit embryonal rhabdomyosarcoma' SubClassOf 'orbit rhabdomyosarcoma' 'orbit embryonal rhabdomyosarcoma' EquivalentTo 'orbit rhabdomyosarcoma' and 'embryonal rhabdomyosarcoma' 'orbit embryonal rhabdomyosarcoma' SubClassOf 'embryonal rhabdomyosarcoma' 'orbit embryonal rhabdomyosarcoma' SubClassOf 'orbit rhabdomyosarcoma' 'orbit embryonal rhabdomyosarcoma' EquivalentTo 'orbit rhabdomyosarcoma' and 'embryonal rhabdomyosarcoma' 'orbit embryonal rhabdomyosarcoma' SubClassOf 'embryonal rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002574 prostate embryonal rhabdomyosarcoma 'prostate embryonal rhabdomyosarcoma' SubClassOf 'Prostate Rhabdomyosarcoma' 'prostate embryonal rhabdomyosarcoma' SubClassOf 'embryonal rhabdomyosarcoma' 'prostate embryonal rhabdomyosarcoma' SubClassOf 'Prostate Rhabdomyosarcoma' 'prostate embryonal rhabdomyosarcoma' SubClassOf 'embryonal rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002576 embryonal extrahepatic bile duct rhabdomyosarcoma 'embryonal extrahepatic bile duct rhabdomyosarcoma' SubClassOf 'embryonal rhabdomyosarcoma' 'embryonal extrahepatic bile duct rhabdomyosarcoma' SubClassOf 'extrahepatic bile duct rhabdomyosarcoma' 'embryonal extrahepatic bile duct rhabdomyosarcoma' SubClassOf 'embryonal rhabdomyosarcoma' 'embryonal extrahepatic bile duct rhabdomyosarcoma' SubClassOf 'extrahepatic bile duct rhabdomyosarcoma' http://purl.obolibrary.org/obo/GO_0070561 vitamin D receptor signaling pathway 'vitamin D receptor signaling pathway' SubClassOf 'signal transduction' 'vitamin D receptor signaling pathway' SubClassOf 'hormone-mediated signaling pathway' http://purl.obolibrary.org/obo/MONDO_0022800 type 2 collagenopathy 'type 2 collagenopathy' SubClassOf 'syndromic disease' 'type 2 collagenopathy' SubClassOf 'skeletal dysplasia' 'type 2 collagenopathy' SubClassOf 'syndromic disease' 'type 2 collagenopathy' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007208 Boomerang dysplasia 'Boomerang dysplasia' SubClassOf 'osteochondrodysplasia' 'Boomerang dysplasia' SubClassOf 'filamin-related bone disorder' 'Boomerang dysplasia' SubClassOf 'osteochondrodysplasia' 'Boomerang dysplasia' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007209 Weismann-Netter syndrome 'Weismann-Netter syndrome' SubClassOf 'bent bone dysplasia' 'Weismann-Netter syndrome' SubClassOf 'bent bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0007207 Böök syndrome 'Böök syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Böök syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007205 diaphyseal medullary stenosis-bone malignancy syndrome 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'skeletal dysplasia' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'bone neoplasm' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'disorder of polyamine metabolism' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'bone neoplasm' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'skeletal dysplasia' 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf 'disorder of polyamine metabolism' http://purl.obolibrary.org/obo/MONDO_0007203 blue rubber bleb nevus 'blue rubber bleb nevus' SubClassOf 'hereditary neoplastic syndrome' 'blue rubber bleb nevus' SubClassOf 'skin vascular disease' 'blue rubber bleb nevus' SubClassOf 'hereditary neoplastic syndrome' 'blue rubber bleb nevus' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0007200 blepharonasofacial malformation syndrome 'blepharonasofacial malformation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'blepharonasofacial malformation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'telecanthus' 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'inherited primary ovarian failure' 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'autosomal dominant disease' 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'telecanthus' 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'autosomal dominant disease' 'blepharophimosis, ptosis, and epicanthus inversus syndrome' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0007219 Osebold-Remondini syndrome 'Osebold-Remondini syndrome' SubClassOf 'acromesomelic dysplasia' 'Osebold-Remondini syndrome' SubClassOf 'brachydactyly' 'Osebold-Remondini syndrome' SubClassOf 'acromesomelic dysplasia' 'Osebold-Remondini syndrome' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007218 brachydactyly type A4 'brachydactyly type A4' SubClassOf 'brachydactyly' 'brachydactyly type A4' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007215 brachydactyly type A1 'brachydactyly type A1' SubClassOf 'brachydactyly' 'brachydactyly type A1' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007216 brachydactyly type A2 'brachydactyly type A2' SubClassOf 'brachydactyly' 'brachydactyly type A2' SubClassOf 'syndromic disease' 'brachydactyly type A2' SubClassOf 'brachydactyly' 'brachydactyly type A2' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007213 Ballard syndrome 'Ballard syndrome' SubClassOf 'brachydactyly' 'Ballard syndrome' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007214 brachydactyly-preaxial hallux varus syndrome 'brachydactyly-preaxial hallux varus syndrome' SubClassOf 'congenital limb malformation' 'brachydactyly-preaxial hallux varus syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0007211 brachydactyly-arterial hypertension syndrome 'brachydactyly-arterial hypertension syndrome' SubClassOf 'brachydactyly' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'dysostosis' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'syndromic disease' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'brachydactyly' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'dysostosis' 'brachydactyly-arterial hypertension syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007212 brachydactyly-long thumb syndrome 'brachydactyly-long thumb syndrome' SubClassOf 'heart-hand syndrome' 'brachydactyly-long thumb syndrome' SubClassOf 'heart-hand syndrome' http://purl.obolibrary.org/obo/MONDO_0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome 'brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'syndromic disease' 'brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007227 Sillence syndrome 'Sillence syndrome' SubClassOf 'syndromic disease' 'Sillence syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007225 fibular aplasia-ectrodactyly syndrome 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'dysostosis' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'congenital limb malformation' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'syndromic disease' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'skeletal dysplasia' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'dysostosis' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'congenital limb malformation' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'syndromic disease' 'fibular aplasia-ectrodactyly syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007220 brachydactyly type B1 'brachydactyly type B1' SubClassOf 'brachydactyly type B' 'brachydactyly type B1' SubClassOf 'brachydactyly type B' http://purl.obolibrary.org/obo/MONDO_0957097 hereditary hemolytic uremic syndrome 'hereditary hemolytic uremic syndrome' SubClassOf 'hemolytic-uremic syndrome' 'hereditary hemolytic uremic syndrome' SubClassOf 'hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0007221 brachydactyly type C 'brachydactyly type C' SubClassOf 'brachydactyly' 'brachydactyly type C' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007239 epidermolytic ichthyosis 'epidermolytic ichthyosis' SubClassOf 'keratinization disease' 'epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' 'epidermolytic ichthyosis' SubClassOf 'keratinization disease' 'epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0007235 branchiooculofacial syndrome 'branchiooculofacial syndrome' SubClassOf 'autosomal dominant disease' 'branchiooculofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'branchiooculofacial syndrome' SubClassOf 'autosomal dominant disease' 'branchiooculofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007231 brachytelephalangy-dysmorphism-Kallmann syndrome 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'syndromic disease' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'dysostosis' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'syndromic disease' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0007232 autosomal dominant brachyolmia 'autosomal dominant brachyolmia' SubClassOf 'TRPV4-related bone disorder' 'autosomal dominant brachyolmia' SubClassOf 'brachyolmia' 'autosomal dominant brachyolmia' SubClassOf 'autosomal dominant disease' 'autosomal dominant brachyolmia' SubClassOf 'TRPV4-related bone disorder' 'autosomal dominant brachyolmia' SubClassOf 'brachyolmia' 'autosomal dominant brachyolmia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'syndromic disease' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'genetic disorder' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'skeletal system disease' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'syndromic disease' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'genetic disorder' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0007248 hereditary painful callosities 'hereditary painful callosities' SubClassOf 'focal palmoplantar keratoderma' 'hereditary painful callosities' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007249 camptobrachydactyly 'camptobrachydactyly' SubClassOf 'brachydactyly' 'camptobrachydactyly' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007247 basal ganglia calcification, idiopathic, childhood-onset 'basal ganglia calcification, idiopathic, childhood-onset' SubClassOf 'Aicardi-Goutieres syndrome' 'basal ganglia calcification, idiopathic, childhood-onset' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0007244 Caffey disease 'Caffey disease' SubClassOf 'neonatal osteosclerotic dysplasia' 'Caffey disease' SubClassOf 'bone inflammation disease' 'Caffey disease' SubClassOf 'hyperostosis' 'Caffey disease' SubClassOf 'neonatal osteosclerotic dysplasia' 'Caffey disease' SubClassOf 'bone inflammation disease' 'Caffey disease' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0007245 cafe au lait spots, multiple 'cafe au lait spots, multiple' SubClassOf 'hyperpigmentation of the skin' 'cafe au lait spots, multiple' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0007240 progressive familial heart block, type 1A 'progressive familial heart block, type 1A' SubClassOf 'conduction system disorder' 'progressive familial heart block, type 1A' SubClassOf 'cardiac rhythm disease' 'progressive familial heart block, type 1A' SubClassOf 'progressive familial heart block' 'progressive familial heart block, type 1A' SubClassOf 'conduction system disorder' 'progressive familial heart block, type 1A' SubClassOf 'cardiac rhythm disease' 'progressive familial heart block, type 1A' SubClassOf 'progressive familial heart block' http://purl.obolibrary.org/obo/MONDO_0007250 camptodactyly of fingers 'camptodactyly of fingers' SubClassOf 'disorder of development or morphogenesis' 'camptodactyly of fingers' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007259 craniofaciofrontodigital syndrome 'craniofaciofrontodigital syndrome' SubClassOf 'inherited cutis laxa' 'craniofaciofrontodigital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'craniofaciofrontodigital syndrome' SubClassOf 'inherited cutis laxa' 'craniofaciofrontodigital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer 'breast cancer' SubClassOf 'thoracic cancer' 'breast cancer' SubClassOf 'breast neoplasm' 'breast cancer' SubClassOf 'thoracic cancer' 'breast cancer' SubClassOf 'breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0007251 campomelic dysplasia 'campomelic dysplasia' SubClassOf 'bent bone dysplasia' 'campomelic dysplasia' SubClassOf 'osteochondrodysplasia' 'campomelic dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'campomelic dysplasia' SubClassOf 'bent bone dysplasia' 'campomelic dysplasia' SubClassOf 'osteochondrodysplasia' 'campomelic dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0007252 Gordon syndrome 'Gordon syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gordon syndrome' SubClassOf 'distal arthrogryposis' 'Gordon syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gordon syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 'hypertrophic cardiomyopathy 4' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 4' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0007269 dilated cardiomyopathy 1A 'dilated cardiomyopathy 1A' SubClassOf 'syndromic disease' 'dilated cardiomyopathy 1A' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1A' SubClassOf 'syndromic disease' 'dilated cardiomyopathy 1A' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0007266 hypertrophic cardiomyopathy 2 'hypertrophic cardiomyopathy 2' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 2' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0007271 familial cutaneous collagenoma 'familial cutaneous collagenoma' SubClassOf 'dermis disorder' 'familial cutaneous collagenoma' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0007272 hereditary hypercarotenemia and vitamin A deficiency 'hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' 'hereditary hypercarotenemia and vitamin A deficiency' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0957048 isolated macular dystrophy 'isolated macular dystrophy' SubClassOf 'macular degeneration' 'isolated macular dystrophy' SubClassOf 'macular degeneration' http://purl.obolibrary.org/obo/MONDO_0007270 cardiomyopathy, familial restrictive, 1 'cardiomyopathy, familial restrictive, 1' SubClassOf 'familial restrictive cardiomyopathy' 'cardiomyopathy, familial restrictive, 1' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0007277 cataract-aberrant oral frenula-growth delay syndrome 'cataract-aberrant oral frenula-growth delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cataract-aberrant oral frenula-growth delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007276 cat-eye syndrome 'cat-eye syndrome' SubClassOf 'syndromic disease' 'cat-eye syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007280 cataract 8 multiple types 'cataract 8 multiple types' SubClassOf 'early-onset non-syndromic cataract' 'cataract 8 multiple types' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0007289 cataract 13 with adult I phenotype 'cataract 13 with adult I phenotype' SubClassOf 'early-onset non-syndromic cataract' 'cataract 13 with adult I phenotype' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0007293 leukocyte adhesion deficiency 1 'leukocyte adhesion deficiency 1' SubClassOf 'leukocyte adhesion deficiency' 'leukocyte adhesion deficiency 1' SubClassOf 'leukocyte adhesion deficiency' http://purl.obolibrary.org/obo/MONDO_0007290 cataract 5 multiple types 'cataract 5 multiple types' SubClassOf 'early-onset non-syndromic cataract' 'cataract 5 multiple types' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0007297 ADan amyloidosis 'ADan amyloidosis' SubClassOf 'cerebral amyloid angiopathy' 'ADan amyloidosis' SubClassOf 'ITM2B amyloidosis' 'ADan amyloidosis' SubClassOf 'cerebral amyloid angiopathy' 'ADan amyloidosis' SubClassOf 'ITM2B amyloidosis' http://purl.obolibrary.org/obo/MONDO_0007298 spinocerebellar ataxia type 29 'spinocerebellar ataxia type 29' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 29' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0007295 childhood epilepsy with centrotemporal spikes 'childhood epilepsy with centrotemporal spikes' SubClassOf 'childhood electroclinical syndrome' 'childhood epilepsy with centrotemporal spikes' SubClassOf 'familial partial epilepsy' 'childhood epilepsy with centrotemporal spikes' SubClassOf 'childhood electroclinical syndrome' 'childhood epilepsy with centrotemporal spikes' SubClassOf 'familial partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0007296 spinocerebellar ataxia type 31 'spinocerebellar ataxia type 31' SubClassOf 'autosomal dominant cerebellar ataxia type III' 'spinocerebellar ataxia type 31' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0957018 autoinflammatory syndrome of childhood 'autoinflammatory syndrome of childhood' SubClassOf 'autoinflammatory syndrome' 'autoinflammatory syndrome of childhood' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0850349 astroblastoma, MN1-altered 'astroblastoma, MN1-altered' SubClassOf 'astroblastoma' 'astroblastoma, MN1-altered' SubClassOf 'astroblastoma' http://purl.obolibrary.org/obo/MONDO_0850302 intracranial meningioma 'intracranial meningioma' SubClassOf 'meningioma' 'intracranial meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0007109 congenital dyserythropoietic anemia type 3 'congenital dyserythropoietic anemia type 3' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 3' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0007108 anal canal carcinoma 'anal canal carcinoma' SubClassOf 'epithelial tumor of anal canal' 'anal canal carcinoma' SubClassOf 'anal canal cancer' 'anal canal carcinoma' SubClassOf 'anal carcinoma' 'anal canal carcinoma' SubClassOf 'epithelial tumor of anal canal' 'anal canal carcinoma' SubClassOf 'anal canal cancer' 'anal canal carcinoma' SubClassOf 'anal carcinoma' http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 'frontotemporal dementia and/or amyotrophic lateral sclerosis 1' SubClassOf 'familial amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 1' SubClassOf 'frontotemporal dementia with motor neuron disease' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 1' SubClassOf 'frontotemporal dementia and/or amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 1' SubClassOf 'familial amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 1' SubClassOf 'frontotemporal dementia with motor neuron disease' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 1' SubClassOf 'frontotemporal dementia and/or amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0007101 familial primary localized cutaneous amyloidosis 'familial primary localized cutaneous amyloidosis' SubClassOf 'primary cutaneous amyloidosis' 'familial primary localized cutaneous amyloidosis' SubClassOf 'hereditary amyloidosis' 'familial primary localized cutaneous amyloidosis' SubClassOf 'primary cutaneous amyloidosis' 'familial primary localized cutaneous amyloidosis' SubClassOf 'hereditary amyloidosis' http://purl.obolibrary.org/obo/MONDO_0022723 chondrodysplasia 'chondrodysplasia' SubClassOf 'syndromic disease' 'chondrodysplasia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007118 isolated anhidrosis with normal sweat glands 'isolated anhidrosis with normal sweat glands' SubClassOf 'anhidrosis' 'isolated anhidrosis with normal sweat glands' SubClassOf 'dermis disorder' 'isolated anhidrosis with normal sweat glands' SubClassOf 'subcutaneous tissue disorder' 'isolated anhidrosis with normal sweat glands' SubClassOf 'anhidrosis' 'isolated anhidrosis with normal sweat glands' SubClassOf 'dermis disorder' 'isolated anhidrosis with normal sweat glands' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0007119 isolated aniridia 'isolated aniridia' SubClassOf 'aniridia' 'isolated aniridia' SubClassOf 'aniridia' http://purl.obolibrary.org/obo/MONDO_0022752 chromosome 16p13.3 deletion syndrome 'chromosome 16p13.3 deletion syndrome' SubClassOf 'Rubinstein-Taybi syndrome' 'chromosome 16p13.3 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' 'chromosome 16p13.3 deletion syndrome' SubClassOf 'Rubinstein-Taybi syndrome' 'chromosome 16p13.3 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0007116 hereditary neurocutaneous angioma 'hereditary neurocutaneous angioma' SubClassOf 'vascular neoplasm' 'hereditary neurocutaneous angioma' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0022754 chromosome 17p deletion 'chromosome 17p deletion' SubClassOf 'partial deletion of chromosome 17' 'chromosome 17p deletion' SubClassOf 'partial deletion of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0007114 Angel-shaped phalango-epiphyseal dysplasia 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'acromelic dysplasia' 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007112 interventricular septum aneurysm 'interventricular septum aneurysm' SubClassOf 'congenital heart malformation' 'interventricular septum aneurysm' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0007113 Angelman syndrome 'Angelman syndrome' SubClassOf 'syndromic disease' 'Angelman syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0022756 chromosome 1q deletion 'chromosome 1q deletion' SubClassOf 'partial deletion of chromosome 1' 'chromosome 1q deletion' SubClassOf 'partial deletion of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0007129 tooth agenesis, selective, 1 'tooth agenesis, selective, 1' SubClassOf 'tooth agenesis' 'tooth agenesis, selective, 1' SubClassOf 'tooth agenesis' http://purl.obolibrary.org/obo/MONDO_0022742 occupational asthma 'occupational asthma' SubClassOf 'occupational lung disease' 'occupational asthma' SubClassOf 'asthma' 'occupational asthma' SubClassOf 'occupational lung disease' 'occupational asthma' SubClassOf 'asthma' http://purl.obolibrary.org/obo/MONDO_0007125 ankyloglossia 'ankyloglossia' SubClassOf 'tongue disorder' 'ankyloglossia' SubClassOf 'genetic disorder' 'ankyloglossia' SubClassOf 'tongue disorder' 'ankyloglossia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007126 spondyloarthropathy, susceptibility to, 1 'spondyloarthropathy, susceptibility to, 1' SubClassOf 'spondyloarthropathy, susceptibility to' 'spondyloarthropathy, susceptibility to, 1' SubClassOf 'spondyloarthropathy, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome 'ankyloblepharon filiforme adnatum-cleft palate syndrome' SubClassOf 'syndromic disease' 'ankyloblepharon filiforme adnatum-cleft palate syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007120 aniridia-absent patella syndrome 'aniridia-absent patella syndrome' SubClassOf 'genetic disorder' 'aniridia-absent patella syndrome' SubClassOf 'syndromic disease' 'aniridia-absent patella syndrome' SubClassOf 'genetic disorder' 'aniridia-absent patella syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0022770 circumscribed cutaneous aplasia of the vertex 'circumscribed cutaneous aplasia of the vertex' SubClassOf 'syndromic disease' 'circumscribed cutaneous aplasia of the vertex' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007134 Cooks syndrome 'Cooks syndrome' SubClassOf 'dysostosis' 'Cooks syndrome' SubClassOf 'brachydactyly' 'Cooks syndrome' SubClassOf 'congenital limb malformation' 'Cooks syndrome' SubClassOf 'dysostosis' 'Cooks syndrome' SubClassOf 'brachydactyly' 'Cooks syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0007131 anonychia with flexural pigmentation 'anonychia with flexural pigmentation' SubClassOf 'ectodermal dysplasia syndrome' 'anonychia with flexural pigmentation' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0022762 chromosome 4 short arm deletion 'chromosome 4 short arm deletion' SubClassOf 'partial deletion of chromosome 4' 'chromosome 4 short arm deletion' SubClassOf 'partial deletion of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0007145 aplasia cutis congenita 'aplasia cutis congenita' SubClassOf 'mixed dermis disorder' 'aplasia cutis congenita' SubClassOf 'mixed dermis disorder' http://purl.obolibrary.org/obo/MONDO_0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome 'aortic arch anomaly-facial dysmorphism-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'aortic arch anomaly-facial dysmorphism-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'syndromic disease' 'Townes-Brocks syndrome' SubClassOf 'autosomal dominant disease' 'Townes-Brocks syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Townes-Brocks syndrome' SubClassOf 'syndromic disease' 'Townes-Brocks syndrome' SubClassOf 'autosomal dominant disease' 'Townes-Brocks syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 'arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome' SubClassOf 'distal arthrogryposis' 'arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'distal arthrogryposis' 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0007156 arthritis, sacroiliac 'arthritis, sacroiliac' SubClassOf 'genetic disorder' 'arthritis, sacroiliac' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007154 arteriovenous malformations of the brain 'arteriovenous malformations of the brain' SubClassOf 'genetic disorder' 'arteriovenous malformations of the brain' SubClassOf 'arteriovenous hemangioma/malformation' 'arteriovenous malformations of the brain' SubClassOf 'genetic disorder' 'arteriovenous malformations of the brain' SubClassOf 'arteriovenous hemangioma/malformation' http://purl.obolibrary.org/obo/MONDO_0007152 arrhythmogenic right ventricular dysplasia 1 'arrhythmogenic right ventricular dysplasia 1' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia 1' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0007161 spermatogenic failure 2 'spermatogenic failure 2' SubClassOf 'azoospermia' 'spermatogenic failure 2' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0007160 Stickler syndrome type 1 'Stickler syndrome type 1' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 1' SubClassOf 'type 2 collagenopathy' 'Stickler syndrome type 1' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 1' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0007167 atelosteogenesis type I 'atelosteogenesis type I' SubClassOf 'atelosteogenesis' 'atelosteogenesis type I' SubClassOf 'filamin-related bone disorder' 'atelosteogenesis type I' SubClassOf 'atelosteogenesis' 'atelosteogenesis type I' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007168 atelosteogenesis type III 'atelosteogenesis type III' SubClassOf 'atelosteogenesis' 'atelosteogenesis type III' SubClassOf 'filamin-related bone disorder' 'atelosteogenesis type III' SubClassOf 'atelosteogenesis' 'atelosteogenesis type III' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0007165 spastic ataxia 7 'spastic ataxia 7' SubClassOf 'autosomal dominant spastic ataxia' 'spastic ataxia 7' SubClassOf 'autosomal dominant spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0007163 episodic ataxia type 2 'episodic ataxia type 2' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 2' SubClassOf 'CACNA1A-related complex neurodevelopmental disorder' 'episodic ataxia type 2' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 2' SubClassOf 'CACNA1A-related complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0007164 spastic ataxia 1 'spastic ataxia 1' SubClassOf 'autosomal dominant spastic ataxia' 'spastic ataxia 1' SubClassOf 'autosomal dominant spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0007172 atrial septal defect 1 'atrial septal defect 1' SubClassOf 'atrial heart septal defect' 'atrial septal defect 1' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0007173 atrial septal defect 7 'atrial septal defect 7' SubClassOf 'atrial heart septal defect' 'atrial septal defect 7' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0007176 helicoid peripapillary chorioretinal degeneration 'helicoid peripapillary chorioretinal degeneration' SubClassOf 'inherited retinal dystrophy' 'helicoid peripapillary chorioretinal degeneration' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007177 auriculoosteodysplasia 'auriculoosteodysplasia' SubClassOf 'musculoskeletal system disease' 'auriculoosteodysplasia' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0007174 Lown-Ganong-Levine syndrome 'Lown-Ganong-Levine syndrome' SubClassOf 'syndromic disease' 'Lown-Ganong-Levine syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007184 alopecia, androgenetic, 1 'alopecia, androgenetic, 1' SubClassOf 'alopecia, isolated' 'alopecia, androgenetic, 1' SubClassOf 'alopecia, isolated' http://purl.obolibrary.org/obo/MONDO_0007182 Machado-Joseph disease 'Machado-Joseph disease' SubClassOf 'Huntington disease-like syndrome' 'Machado-Joseph disease' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'Machado-Joseph disease' SubClassOf 'Huntington disease-like syndrome' 'Machado-Joseph disease' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 'Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities' SubClassOf 'genetic disorder' 'Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007187 nevoid basal cell carcinoma syndrome 'nevoid basal cell carcinoma syndrome' SubClassOf 'hereditary neoplastic syndrome' 'nevoid basal cell carcinoma syndrome' SubClassOf 'neurocutaneous syndrome' 'nevoid basal cell carcinoma syndrome' SubClassOf 'autosomal dominant disease' 'nevoid basal cell carcinoma syndrome' SubClassOf 'hereditary neoplastic syndrome' 'nevoid basal cell carcinoma syndrome' SubClassOf 'neurocutaneous syndrome' 'nevoid basal cell carcinoma syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007188 primary basilar invagination 'primary basilar invagination' SubClassOf 'skeletal system disease' 'primary basilar invagination' SubClassOf 'disorder of development or morphogenesis' 'primary basilar invagination' SubClassOf 'disorder of development or morphogenesis' 'primary basilar invagination' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve 'familial bicuspid aortic valve' SubClassOf 'aortic valve disease' 'familial bicuspid aortic valve' SubClassOf 'disorder of development or morphogenesis' 'familial bicuspid aortic valve' SubClassOf 'aortic valve disease' 'familial bicuspid aortic valve' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007198 Ascher syndrome 'Ascher syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ascher syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007197 bladder diverticulum 'bladder diverticulum' SubClassOf 'genetic disorder' 'bladder diverticulum' SubClassOf 'bladder disease' 'bladder diverticulum' SubClassOf 'genetic disorder' 'bladder diverticulum' SubClassOf 'bladder disease' http://purl.obolibrary.org/obo/MONDO_0022642 childhood carcinoid tumor 'childhood carcinoid tumor' SubClassOf 'carcinoid tumor' 'childhood carcinoid tumor' SubClassOf 'carcinoid tumor' http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome 'branchio-oto-renal syndrome' SubClassOf 'autosomal dominant disease' 'branchio-oto-renal syndrome' SubClassOf 'syndromic disease' 'branchio-oto-renal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'branchio-oto-renal syndrome' SubClassOf 'autosomal dominant disease' 'branchio-oto-renal syndrome' SubClassOf 'syndromic disease' 'branchio-oto-renal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0022672 autosomal dominant cataract 'autosomal dominant cataract' SubClassOf 'syndromic disease' 'autosomal dominant cataract' SubClassOf 'cataract' 'autosomal dominant cataract' SubClassOf 'syndromic disease' 'autosomal dominant cataract' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0007039 neurofibromatosis type 2 'neurofibromatosis type 2' SubClassOf 'neurofibromatosis' 'neurofibromatosis type 2' SubClassOf 'neurofibromatosis' http://purl.obolibrary.org/obo/MONDO_0007037 Achondroplasia 'Achondroplasia' SubClassOf 'osteochondrodysplasia' 'Achondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'Achondroplasia' SubClassOf 'osteochondrodysplasia' 'Achondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007033 abducens nerve palsy 'abducens nerve palsy' SubClassOf 'cranial nerve palsy' 'abducens nerve palsy' SubClassOf 'cranial nerve palsy' http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome 'Adams-Oliver syndrome' SubClassOf 'genetic disorder' 'Adams-Oliver syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007031 familial abdominal aortic aneurysm 'familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' 'familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' http://purl.obolibrary.org/obo/MONDO_0007032 prune belly syndrome 'prune belly syndrome' SubClassOf 'fetal lower urinary tract obstruction' 'prune belly syndrome' SubClassOf 'syndromic disease' 'prune belly syndrome' SubClassOf 'fetal lower urinary tract obstruction' 'prune belly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007040 Sakati-Nyhan syndrome 'Sakati-Nyhan syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Sakati-Nyhan syndrome' SubClassOf 'acrocephalopolysyndactyly' http://purl.obolibrary.org/obo/MONDO_0007041 Apert syndrome 'Apert syndrome' SubClassOf 'acrocephalosyndactyly' 'Apert syndrome' SubClassOf 'acrocephalosyndactyly' http://purl.obolibrary.org/obo/MONDO_0007049 acroleukopathy, symmetric 'acroleukopathy, symmetric' SubClassOf 'genetic disorder' 'acroleukopathy, symmetric' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007044 Acrodysostosis 1 with or without hormone resistance 'Acrodysostosis 1 with or without hormone resistance' SubClassOf 'acrodysostosis' 'Acrodysostosis 1 with or without hormone resistance' SubClassOf 'acrodysostosis' http://purl.obolibrary.org/obo/MONDO_0007045 acrofacial dysostosis, Catania type 'acrofacial dysostosis, Catania type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Catania type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'acrofacial dysostosis, Catania type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Catania type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007042 Saethre-Chotzen syndrome 'Saethre-Chotzen syndrome' SubClassOf 'acrocephalosyndactyly' 'Saethre-Chotzen syndrome' SubClassOf 'acrocephalosyndactyly' http://purl.obolibrary.org/obo/MONDO_0007043 Pfeiffer syndrome 'Pfeiffer syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Pfeiffer syndrome' SubClassOf 'acrocephalopolysyndactyly' http://purl.obolibrary.org/obo/MONDO_0007051 acromegaloid facial appearance syndrome 'acromegaloid facial appearance syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'acromegaloid facial appearance syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0007059 acrorenal syndrome 'acrorenal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acrorenal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007057 Acroosteolysis dominant type 'Acroosteolysis dominant type' SubClassOf 'rheumatic disease' 'Acroosteolysis dominant type' SubClassOf 'disappearing bone disease' 'Acroosteolysis dominant type' SubClassOf 'autosomal dominant disease' 'Acroosteolysis dominant type' SubClassOf 'acroosteolysis' 'Acroosteolysis dominant type' SubClassOf 'rheumatic disease' 'Acroosteolysis dominant type' SubClassOf 'disappearing bone disease' 'Acroosteolysis dominant type' SubClassOf 'autosomal dominant disease' 'Acroosteolysis dominant type' SubClassOf 'acroosteolysis' http://purl.obolibrary.org/obo/MONDO_0007058 Acropectorovertebral dysplasia 'Acropectorovertebral dysplasia' SubClassOf 'thoracic malformation' 'Acropectorovertebral dysplasia' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Acropectorovertebral dysplasia' SubClassOf 'thoracic malformation' 'Acropectorovertebral dysplasia' SubClassOf 'polydactyly-syndactyly-triphalangism' http://purl.obolibrary.org/obo/MONDO_0007055 Acromicric dysplasia 'Acromicric dysplasia' SubClassOf 'acromelic dysplasia' 'Acromicric dysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007056 acroosteolysis 'acroosteolysis' SubClassOf 'primary osteolysis' 'acroosteolysis' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0007062 adactylia, unilateral 'adactylia, unilateral' SubClassOf 'dysostosis' 'adactylia, unilateral' SubClassOf 'non-syndromic limb reduction defect' 'adactylia, unilateral' SubClassOf 'dysostosis' 'adactylia, unilateral' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0850093 absence epilepsy 'absence epilepsy' SubClassOf 'electroclinical syndrome' 'absence epilepsy' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0007068 adenylosuccinate lyase deficiency 'adenylosuccinate lyase deficiency' SubClassOf 'inborn disorder of amino acid metabolism' 'adenylosuccinate lyase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'adenylosuccinate lyase deficiency' SubClassOf 'inborn disorder of amino acid metabolism' 'adenylosuccinate lyase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0007066 adenosine triphosphatase deficiency, anemia due to 'adenosine triphosphatase deficiency, anemia due to' SubClassOf 'genetic disorder' 'adenosine triphosphatase deficiency, anemia due to' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'familial severe combined immunodeficiency' 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'familial severe combined immunodeficiency' 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0007073 Hypoglossia-hypodactyly syndrome 'Hypoglossia-hypodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Hypoglossia-hypodactyly syndrome' SubClassOf 'oromandibular-limb hypogenesis syndrome' 'Hypoglossia-hypodactyly syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Hypoglossia-hypodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Hypoglossia-hypodactyly syndrome' SubClassOf 'oromandibular-limb hypogenesis syndrome' 'Hypoglossia-hypodactyly syndrome' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0007072 ADULT syndrome 'ADULT syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ADULT syndrome' SubClassOf 'autosomal dominant disease' 'ADULT syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ADULT syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007079 alcohol dependence 'alcohol dependence' SubClassOf 'drug dependence' 'alcohol dependence' SubClassOf 'drug dependence' http://purl.obolibrary.org/obo/MONDO_0007077 Tietz syndrome 'Tietz syndrome' SubClassOf 'hypopigmentation of the skin' 'Tietz syndrome' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0007078 pseudohypoparathyroidism type 1A 'pseudohypoparathyroidism type 1A' SubClassOf 'disorder of GNAS inactivation' 'pseudohypoparathyroidism type 1A' SubClassOf 'pseudohypoparathyroidism' 'pseudohypoparathyroidism type 1A' SubClassOf 'acromelic dysplasia' 'pseudohypoparathyroidism type 1A' SubClassOf 'disorder of GNAS inactivation' 'pseudohypoparathyroidism type 1A' SubClassOf 'pseudohypoparathyroidism' 'pseudohypoparathyroidism type 1A' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'syndromic disease' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'integumentary system disease' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'genetic disorder' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'syndromic disease' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'integumentary system disease' 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'diffuse palmoplantar keratoderma' 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'diffuse palmoplantar keratoderma' 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism 'glucocorticoid-remediable aldosteronism' SubClassOf 'familial hyperaldosteronism' 'glucocorticoid-remediable aldosteronism' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0007088 Alzheimer disease type 1 'Alzheimer disease type 1' SubClassOf 'early-onset autosomal dominant Alzheimer disease' 'Alzheimer disease type 1' SubClassOf 'early-onset autosomal dominant Alzheimer disease' http://purl.obolibrary.org/obo/MONDO_0007086 autosomal dominant Alport syndrome 'autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' 'autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' 'autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' 'autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007095 ameloonychohypohidrotic syndrome 'ameloonychohypohidrotic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ameloonychohypohidrotic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007093 hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 'hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'amelogenesis imperfecta' 'hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis 'familial visceral amyloidosis' SubClassOf 'hereditary amyloidosis' 'familial visceral amyloidosis' SubClassOf 'hereditary amyloidosis' http://purl.obolibrary.org/obo/MONDO_0007097 Finnish type amyloidosis 'Finnish type amyloidosis' SubClassOf 'hereditary peripheral neuropathy' 'Finnish type amyloidosis' SubClassOf 'syndromic disease' 'Finnish type amyloidosis' SubClassOf 'corneal dystrophy' 'Finnish type amyloidosis' SubClassOf 'hereditary amyloidosis' 'Finnish type amyloidosis' SubClassOf 'hereditary peripheral neuropathy' 'Finnish type amyloidosis' SubClassOf 'syndromic disease' 'Finnish type amyloidosis' SubClassOf 'corneal dystrophy' 'Finnish type amyloidosis' SubClassOf 'hereditary amyloidosis' http://purl.obolibrary.org/obo/MONDO_0007098 ACys amyloidosis 'ACys amyloidosis' SubClassOf 'cerebral amyloid angiopathy' 'ACys amyloidosis' SubClassOf 'cerebral amyloid angiopathy' http://purl.obolibrary.org/obo/MONDO_0022529 BK-virus nephropathy 'BK-virus nephropathy' SubClassOf 'hantavirus hemorrhagic fever with renal syndrome' 'BK-virus nephropathy' SubClassOf 'hantavirus hemorrhagic fever with renal syndrome' http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy 'retinal ciliopathy' SubClassOf 'ciliopathy' 'retinal ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0022435 Mauriac syndrome 'Mauriac syndrome' SubClassOf 'syndromic disease' 'Mauriac syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0957497 disabling pansclerotic morphea of childhood 'disabling pansclerotic morphea of childhood' SubClassOf 'genetic disorder' 'disabling pansclerotic morphea of childhood' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957494 autoinflammatory disease, multisystem, with immune dysregulation, X-linked 'autoinflammatory disease, multisystem, with immune dysregulation, X-linked' SubClassOf 'autoinflammatory syndrome' 'autoinflammatory disease, multisystem, with immune dysregulation, X-linked' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0957495 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature 'hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature' SubClassOf 'hereditary hemolytic uremic syndrome' 'hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature' SubClassOf 'hereditary hemolytic uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0957421 borna virus encephalitis 'borna virus encephalitis' SubClassOf 'viral encephalitis' 'borna virus encephalitis' SubClassOf 'viral encephalitis' http://purl.obolibrary.org/obo/MONDO_0859085 neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked 'neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859080 intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 'intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0859176 neurodevelopmental disorder with motor and speech delay and behavioral abnormalities 'neurodevelopmental disorder with motor and speech delay and behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with motor and speech delay and behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859177 VISS syndrome 'VISS syndrome' SubClassOf 'genetic disorder' 'VISS syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859171 Luo-Schoch-Yamamoto syndrome 'Luo-Schoch-Yamamoto syndrome' SubClassOf 'genetic disorder' 'Luo-Schoch-Yamamoto syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859174 Usmani-Riazuddin syndrome, autosomal dominant 'Usmani-Riazuddin syndrome, autosomal dominant' SubClassOf 'genetic disorder' 'Usmani-Riazuddin syndrome, autosomal dominant' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859170 retinal dystrophy and microvillus inclusion disease 'retinal dystrophy and microvillus inclusion disease' SubClassOf 'genetic disorder' 'retinal dystrophy and microvillus inclusion disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859169 White-Kernohan syndrome 'White-Kernohan syndrome' SubClassOf 'genetic disorder' 'White-Kernohan syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859164 osteootohepatoenteric syndrome 'osteootohepatoenteric syndrome' SubClassOf 'genetic disorder' 'osteootohepatoenteric syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859167 hypokalemic tubulopathy and deafness 'hypokalemic tubulopathy and deafness' SubClassOf 'genetic disorder' 'hypokalemic tubulopathy and deafness' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859160 mitochondrial complex IV deficiency, nuclear type 22 'mitochondrial complex IV deficiency, nuclear type 22' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex IV deficiency, nuclear type 22' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0859161 onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome 'onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome' SubClassOf 'genetic disorder' 'onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859162 neurodevelopmental disorder with infantile epileptic spasms 'neurodevelopmental disorder with infantile epileptic spasms' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with infantile epileptic spasms' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859163 Faundes-Banka syndrome 'Faundes-Banka syndrome' SubClassOf 'genetic disorder' 'Faundes-Banka syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859158 ataxia, intention tremor, and hypotonia syndrome, childhood-onset 'ataxia, intention tremor, and hypotonia syndrome, childhood-onset' SubClassOf 'genetic disorder' 'ataxia, intention tremor, and hypotonia syndrome, childhood-onset' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859155 chromosome 1p36 deletion syndrome, proximal 'chromosome 1p36 deletion syndrome, proximal' SubClassOf 'chromosomal disorder' 'chromosome 1p36 deletion syndrome, proximal' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0859156 dysostosis multiplex, Ain-Naz type 'dysostosis multiplex, Ain-Naz type' SubClassOf 'dysostosis' 'dysostosis multiplex, Ain-Naz type' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0859150 BDV syndrome 'BDV syndrome' SubClassOf 'genetic disorder' 'BDV syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal 'fibromuscular dysplasia, multifocal' SubClassOf 'genetic disorder' 'fibromuscular dysplasia, multifocal' SubClassOf 'arterial disorder' 'fibromuscular dysplasia, multifocal' SubClassOf 'genetic disorder' 'fibromuscular dysplasia, multifocal' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0859146 growth restriction, hypoplastic kidneys, alopecia, and distinctive facies 'growth restriction, hypoplastic kidneys, alopecia, and distinctive facies' SubClassOf 'genetic disorder' 'growth restriction, hypoplastic kidneys, alopecia, and distinctive facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859149 hypertriglyceridemia 2 'hypertriglyceridemia 2' SubClassOf 'Hypertriglyceridemia' 'hypertriglyceridemia 2' SubClassOf 'Hypertriglyceridemia' http://purl.obolibrary.org/obo/MONDO_0859143 Radio-Tartaglia syndrome 'Radio-Tartaglia syndrome' SubClassOf 'genetic disorder' 'Radio-Tartaglia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859144 Buratti-Harel syndrome 'Buratti-Harel syndrome' SubClassOf 'genetic disorder' 'Buratti-Harel syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859139 blepharophimosis-impaired intellectual development syndrome 'blepharophimosis-impaired intellectual development syndrome' SubClassOf 'genetic disorder' 'blepharophimosis-impaired intellectual development syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859136 Alzahrani-Kuwahara syndrome 'Alzahrani-Kuwahara syndrome' SubClassOf 'Neurodevelopmental disorder' 'Alzahrani-Kuwahara syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859137 neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia 'neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0012909 skeletal defects, genital hypoplasia, and intellectual disability 'skeletal defects, genital hypoplasia, and intellectual disability' SubClassOf 'genetic disorder' 'skeletal defects, genital hypoplasia, and intellectual disability' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012907 blindness - scoliosis - arachnodactyly syndrome 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'developmental defect during embryogenesis' 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'eye disease' 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'developmental defect during embryogenesis' 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0012901 inherited prekallikrein deficiency 'inherited prekallikrein deficiency' SubClassOf 'coagulation protein disease' 'inherited prekallikrein deficiency' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0012900 cardiomyopathy, familial restrictive, 3 'cardiomyopathy, familial restrictive, 3' SubClassOf 'familial restrictive cardiomyopathy' 'cardiomyopathy, familial restrictive, 3' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012905 hypomyelinating leukodystrophy 6 'hypomyelinating leukodystrophy 6' SubClassOf 'leukodystrophy' 'hypomyelinating leukodystrophy 6' SubClassOf 'TUBB4A-related neurologic disorder' 'hypomyelinating leukodystrophy 6' SubClassOf 'leukodystrophy' 'hypomyelinating leukodystrophy 6' SubClassOf 'TUBB4A-related neurologic disorder' http://purl.obolibrary.org/obo/MONDO_0012912 pseudopseudohypoparathyroidism 'pseudopseudohypoparathyroidism' SubClassOf 'acromelic dysplasia' 'pseudopseudohypoparathyroidism' SubClassOf 'pseudohypoparathyroidism' 'pseudopseudohypoparathyroidism' SubClassOf 'disorder of GNAS inactivation' 'pseudopseudohypoparathyroidism' SubClassOf 'acromelic dysplasia' 'pseudopseudohypoparathyroidism' SubClassOf 'pseudohypoparathyroidism' 'pseudopseudohypoparathyroidism' SubClassOf 'disorder of GNAS inactivation' http://purl.obolibrary.org/obo/MONDO_0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome 'Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome' SubClassOf 'WAGR syndrome' 'Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome' SubClassOf 'WAGR syndrome' http://purl.obolibrary.org/obo/MONDO_0012911 pseudohypoparathyroidism type 1C 'pseudohypoparathyroidism type 1C' SubClassOf 'disorder of GNAS inactivation' 'pseudohypoparathyroidism type 1C' SubClassOf 'pseudohypoparathyroidism' 'pseudohypoparathyroidism type 1C' SubClassOf 'primary avascular necrosis' 'pseudohypoparathyroidism type 1C' SubClassOf 'acromelic dysplasia' 'pseudohypoparathyroidism type 1C' SubClassOf 'pseudohypoparathyroidism' 'pseudohypoparathyroidism type 1C' SubClassOf 'disorder of GNAS inactivation' 'pseudohypoparathyroidism type 1C' SubClassOf 'primary avascular necrosis' 'pseudohypoparathyroidism type 1C' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0012916 chromosome 2p16.1-p15 deletion syndrome 'chromosome 2p16.1-p15 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' 'chromosome 2p16.1-p15 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0012914 chromosome 1q21.1 deletion syndrome 'chromosome 1q21.1 deletion syndrome' SubClassOf 'chromosome 1q deletion' 'chromosome 1q21.1 deletion syndrome' SubClassOf 'chromosome 1q deletion' http://purl.obolibrary.org/obo/MONDO_0012915 chromosome 1q21.1 duplication syndrome 'chromosome 1q21.1 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 1' 'chromosome 1q21.1 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy 'Compton-North congenital myopathy' SubClassOf 'congenital myopathy' 'Compton-North congenital myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0012923 congenital generalized lipodystrophy type 3 'congenital generalized lipodystrophy type 3' SubClassOf 'Berardinelli-Seip congenital lipodystrophy' 'congenital generalized lipodystrophy type 3' SubClassOf 'congenital generalized lipodystrophy' 'congenital generalized lipodystrophy type 3' SubClassOf 'Berardinelli-Seip congenital lipodystrophy' 'congenital generalized lipodystrophy type 3' SubClassOf 'congenital generalized lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0012927 chromosome 1q41-q42 deletion syndrome 'chromosome 1q41-q42 deletion syndrome' SubClassOf 'holoprosencephaly' 'chromosome 1q41-q42 deletion syndrome' SubClassOf 'chromosome 1q deletion' 'chromosome 1q41-q42 deletion syndrome' SubClassOf 'holoprosencephaly' 'chromosome 1q41-q42 deletion syndrome' SubClassOf 'chromosome 1q deletion' http://purl.obolibrary.org/obo/MONDO_0012928 hereditary spastic paraplegia 42 'hereditary spastic paraplegia 42' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 42' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'breast-ovarian cancer, familial, susceptibility to' 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'breast-ovarian cancer, familial, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0012945 amyotrophic lateral sclerosis type 11 'amyotrophic lateral sclerosis type 11' SubClassOf 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis type 11' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0012944 chromosome 17P13.3, telomeric, duplication syndrome 'chromosome 17P13.3, telomeric, duplication syndrome' SubClassOf 'non-syndromic limb reduction defect' 'chromosome 17P13.3, telomeric, duplication syndrome' SubClassOf 'tibial aplasia-ectrodactyly syndrome' 'chromosome 17P13.3, telomeric, duplication syndrome' SubClassOf 'non-syndromic limb reduction defect' 'chromosome 17P13.3, telomeric, duplication syndrome' SubClassOf 'tibial aplasia-ectrodactyly syndrome' http://purl.obolibrary.org/obo/MONDO_0036915 benign ovarian mucinous tumor 'benign ovarian mucinous tumor' SubClassOf 'ovarian mucinous neoplasm' 'benign ovarian mucinous tumor' SubClassOf 'ovarian mucinous neoplasm' http://purl.obolibrary.org/obo/MONDO_0012947 intellectual disability, autosomal dominant 4 'intellectual disability, autosomal dominant 4' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 4' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0012948 chromosome 6pter-p24 deletion syndrome 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 6' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'iridogoniodysgenesis' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 6' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'iridogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0012941 inflammatory bowel disease 25 'inflammatory bowel disease 25' SubClassOf 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' 'inflammatory bowel disease 25' SubClassOf 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' http://purl.obolibrary.org/obo/MONDO_0012953 colorectal cancer, susceptibility to, 10 'colorectal cancer, susceptibility to, 10' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 10' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0012966 microvascular complications of diabetes, susceptibility to, 4 'microvascular complications of diabetes, susceptibility to, 4' SubClassOf 'microvascular complications of diabetes, susceptibility' 'microvascular complications of diabetes, susceptibility to, 4' SubClassOf 'microvascular complications of diabetes, susceptibility' http://purl.obolibrary.org/obo/MONDO_0012960 intellectual disability, autosomal dominant 5 'intellectual disability, autosomal dominant 5' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 5' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0012964 chromosome 15q26-qter deletion syndrome 'chromosome 15q26-qter deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' 'chromosome 15q26-qter deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' http://purl.obolibrary.org/obo/MONDO_0012977 autosomal recessive nonsyndromic hearing loss 1B 'autosomal recessive nonsyndromic hearing loss 1B' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 1B' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0012975 autosomal dominant nonsyndromic hearing loss 3B 'autosomal dominant nonsyndromic hearing loss 3B' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 3B' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0012988 hypogonadotropic hypogonadism 6 with or without anosmia 'hypogonadotropic hypogonadism 6 with or without anosmia' SubClassOf 'Kallmann syndrome' 'hypogonadotropic hypogonadism 6 with or without anosmia' SubClassOf 'Kallmann syndrome' http://purl.obolibrary.org/obo/MONDO_0012981 hereditary spherocytosis type 4 'hereditary spherocytosis type 4' SubClassOf 'hereditary spherocytosis' 'hereditary spherocytosis type 4' SubClassOf 'hereditary spherocytosis' http://purl.obolibrary.org/obo/MONDO_0012982 episodic ataxia type 6 'episodic ataxia type 6' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 6' SubClassOf 'inborn disorder of amino acid transport' 'episodic ataxia type 6' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 6' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0012980 endocrine-cerebro-osteodysplasia syndrome 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'skeletal system disease' 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'genetic disorder' 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'skeletal system disease' 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'genetic disorder' 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0012986 bilateral parasagittal parieto-occipital polymicrogyria 'bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0012983 cone-rod dystrophy 12 'cone-rod dystrophy 12' SubClassOf 'cone-rod dystrophy' 'cone-rod dystrophy 12' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome 'PHARC syndrome' SubClassOf 'autosomal recessive disease' 'PHARC syndrome' SubClassOf 'hereditary peripheral neuropathy' 'PHARC syndrome' SubClassOf 'autosomal recessive disease' 'PHARC syndrome' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0022316 hair defect with photosensitivity and intellectual disability syndrome 'hair defect with photosensitivity and intellectual disability syndrome' SubClassOf 'syndromic disease' 'hair defect with photosensitivity and intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/DOID_10718 giardiasis 'giardiasis' SubClassOf 'parasitic intestinal disease' 'giardiasis' SubClassOf 'protozoa infectious disease' 'giardiasis' SubClassOf 'parasitic intestinal disease' 'giardiasis' SubClassOf 'protozoa infectious disease' http://purl.obolibrary.org/obo/MONDO_0012999 guanidinoacetate methyltransferase deficiency 'guanidinoacetate methyltransferase deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'guanidinoacetate methyltransferase deficiency' SubClassOf 'cerebral creatine deficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0012992 pancreatic insufficiency-anemia-hyperostosis syndrome 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'exocrine pancreatic insufficiency' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'skeletal dysplasia' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'congenital dyserythropoietic anemia' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'exocrine pancreatic insufficiency' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'skeletal dysplasia' 'pancreatic insufficiency-anemia-hyperostosis syndrome' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0012991 Kahrizi syndrome 'Kahrizi syndrome' SubClassOf 'autosomal recessive disease' 'Kahrizi syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0012996 AGAT deficiency 'AGAT deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'AGAT deficiency' SubClassOf 'cerebral creatine deficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome 'cholestasis-pigmentary retinopathy-cleft palate syndrome' SubClassOf 'genetic disorder' 'cholestasis-pigmentary retinopathy-cleft palate syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'inherited dystonia' 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'dopa-responsive dystonia' 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'inherited dystonia' 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'dopa-responsive dystonia' http://purl.obolibrary.org/obo/MONDO_0022308 corticobasal degeneration disorder 'corticobasal degeneration disorder' SubClassOf 'syndromic disease' 'corticobasal degeneration disorder' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0036976 benign epithelial neoplasm 'benign epithelial neoplasm' SubClassOf 'epithelial neoplasm' 'benign epithelial neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0957560 hearing loss, noise-induced, susceptibility to 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'noise-induced hearing loss') 'hearing loss, noise-induced, susceptibility to' SubClassOf 'predisposes towards' some 'noise-induced hearing loss' 'hearing loss, noise-induced, susceptibility to' SubClassOf 'inherited disease susceptibility' 'hearing loss, noise-induced, susceptibility to' SubClassOf 'genetic disorder' 'hearing loss, noise-induced, susceptibility to' SubClassOf 'inherited disease susceptibility' 'hearing loss, noise-induced, susceptibility to' SubClassOf 'genetic disorder' 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'noise-induced hearing loss') 'hearing loss, noise-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'noise-induced hearing loss' http://purl.obolibrary.org/obo/MONDO_0957553 Houge-Janssens syndrome 'Houge-Janssens syndrome' SubClassOf 'syndromic disease' 'Houge-Janssens syndrome' SubClassOf 'genetic disorder' 'Houge-Janssens syndrome' SubClassOf 'syndromic disease' 'Houge-Janssens syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0036990 benign Leydig cell tumor 'benign Leydig cell tumor' SubClassOf 'Leydig Cell Tumor' 'benign Leydig cell tumor' SubClassOf 'Leydig Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0957545 cardiomyopathy, dilated, 2I 'cardiomyopathy, dilated, 2I' SubClassOf 'familial dilated cardiomyopathy' 'cardiomyopathy, dilated, 2I' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0022394 cervical intraepithelial neoplasia 'cervical intraepithelial neoplasia' SubClassOf 'disease has major feature' some 'Cervical polyp' 'cervical intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cervical polyp' http://purl.obolibrary.org/obo/MONDO_0859197 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies 'intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies' SubClassOf 'genetic disorder' 'intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859199 developmental delay with or without intellectual impairment or behavioral abnormalities 'developmental delay with or without intellectual impairment or behavioral abnormalities' SubClassOf 'genetic disorder' 'developmental delay with or without intellectual impairment or behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859194 Boudin-Mortier syndrome 'Boudin-Mortier syndrome' SubClassOf 'genetic disorder' 'Boudin-Mortier syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859196 Usmani-Riazuddin syndrome, autosomal recessive 'Usmani-Riazuddin syndrome, autosomal recessive' SubClassOf 'genetic disorder' 'Usmani-Riazuddin syndrome, autosomal recessive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859190 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 'neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities' SubClassOf 'genetic disorder' 'neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859191 biliary, renal, neurologic, and skeletal syndrome 'biliary, renal, neurologic, and skeletal syndrome' SubClassOf 'genetic disorder' 'biliary, renal, neurologic, and skeletal syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859187 neurodevelopmental disorder with hypotonia and brain abnormalities 'neurodevelopmental disorder with hypotonia and brain abnormalities' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with hypotonia and brain abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859189 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 'muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome' SubClassOf 'genetic disorder' 'muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859182 Short stature, Dauber-Argente type 'Short stature, Dauber-Argente type' SubClassOf 'musculoskeletal system disease' 'Short stature, Dauber-Argente type' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0859183 Parkinson disease 24, autosomal dominant, susceptibility to 'Parkinson disease 24, autosomal dominant, susceptibility to' SubClassOf 'inherited disease susceptibility' 'Parkinson disease 24, autosomal dominant, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0859184 ventriculomegaly and arthrogryposis 'ventriculomegaly and arthrogryposis' SubClassOf 'genetic disorder' 'ventriculomegaly and arthrogryposis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859181 DEGCAGS syndrome 'DEGCAGS syndrome' SubClassOf 'genetic disorder' 'DEGCAGS syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012808 dilated cardiomyopathy 1AA 'dilated cardiomyopathy 1AA' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1AA' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012802 oculoauricular syndrome 'oculoauricular syndrome' SubClassOf 'syndromic microphthalmia' 'oculoauricular syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012803 diarrhea-vomiting due to trehalase deficiency 'diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0012801 autism, susceptibility to, 15 'autism, susceptibility to, 15' SubClassOf 'autism, susceptiblity to' 'autism, susceptibility to, 15' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0012806 ectodermal dysplasia and immunodeficiency 2 'ectodermal dysplasia and immunodeficiency 2' SubClassOf 'ectodermal dysplasia and immune deficiency' 'ectodermal dysplasia and immunodeficiency 2' SubClassOf 'ectodermal dysplasia and immune deficiency' http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia 'epidermolysis bullosa simplex 5C, with pyloric atresia' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 5C, with pyloric atresia' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0012804 hypertrophic cardiomyopathy 12 'hypertrophic cardiomyopathy 12' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 12' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012805 childhood onset GLUT1 deficiency syndrome 2 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'paroxysmal dyskinesia' 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'GLUT1 deficiency syndrome' 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'paroxysmal dyskinesia' 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'GLUT1 deficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0012812 developmental and epileptic encephalopathy, 4 'developmental and epileptic encephalopathy, 4' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 4' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0012815 Coats plus syndrome 'Coats plus syndrome' SubClassOf 'congenital vitreoretinal dysplasia' 'Coats plus syndrome' SubClassOf 'telomere syndrome' 'Coats plus syndrome' SubClassOf 'congenital vitreoretinal dysplasia' 'Coats plus syndrome' SubClassOf 'telomere syndrome' http://purl.obolibrary.org/obo/MONDO_0012824 hypomyelinating leukodystrophy 4 'hypomyelinating leukodystrophy 4' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'hypomyelinating leukodystrophy 4' SubClassOf 'Pelizaeus-Merzbacher-like disease' http://purl.obolibrary.org/obo/MONDO_0012825 extraskeletal myxoid chondrosarcoma 'extraskeletal myxoid chondrosarcoma' SubClassOf 'soft tissue sarcoma' 'extraskeletal myxoid chondrosarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset 'nemaline myopathy 5B, autosomal recessive, childhood-onset' SubClassOf 'nemaline myopathy' 'nemaline myopathy 5B, autosomal recessive, childhood-onset' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0012820 colorectal cancer, susceptibility to, 3 'colorectal cancer, susceptibility to, 3' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0012833 Crouzon syndrome-acanthosis nigricans syndrome 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'syndromic craniosynostosis' 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'autosomal dominant disease' 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'syndromic craniosynostosis' 'Crouzon syndrome-acanthosis nigricans syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0957271 autoinflammatory disease, systemic, with vasculitis 'autoinflammatory disease, systemic, with vasculitis' SubClassOf 'autoinflammatory syndrome' 'autoinflammatory disease, systemic, with vasculitis' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0012839 pyogenic bacterial infections due to MyD88 deficiency 'pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'immunodeficiency disease' 'pyogenic bacterial infections due to MyD88 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0957268 hypersulfaturia 'hypersulfaturia' SubClassOf 'genetic disorder' 'hypersulfaturia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012830 chromosome 10q23 deletion syndrome 'chromosome 10q23 deletion syndrome' SubClassOf 'partial monosomy of the long arm of chromosome 10' 'chromosome 10q23 deletion syndrome' SubClassOf 'partial monosomy of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0012843 epilepsy, childhood absence, susceptibility to, 5 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf 'predisposes towards' some 'childhood absence epilepsy' 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'childhood absence epilepsy' http://purl.obolibrary.org/obo/MONDO_0012858 primary CD59 deficiency 'primary CD59 deficiency' SubClassOf 'hereditary peripheral neuropathy' 'primary CD59 deficiency' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0012856 Birk-Barel syndrome 'Birk-Barel syndrome' SubClassOf 'autosomal dominant disease' 'Birk-Barel syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0957294 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9 'pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' 'pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' http://purl.obolibrary.org/obo/MONDO_0012859 autosomal recessive osteopetrosis 7 'autosomal recessive osteopetrosis 7' SubClassOf 'immune system disease' 'autosomal recessive osteopetrosis 7' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'impaired renal function disease' 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'impaired renal function disease' http://purl.obolibrary.org/obo/MONDO_0012853 Fontaine progeroid syndrome 'Fontaine progeroid syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fontaine progeroid syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Fontaine progeroid syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fontaine progeroid syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0012854 bilateral microtia-deafness-cleft palate syndrome 'bilateral microtia-deafness-cleft palate syndrome' SubClassOf 'genetic disorder' 'bilateral microtia-deafness-cleft palate syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'impaired renal function disease' 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'impaired renal function disease' 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' http://purl.obolibrary.org/obo/MONDO_0012868 thrombophilia due to protein S deficiency, autosomal dominant 'thrombophilia due to protein S deficiency, autosomal dominant' SubClassOf 'hereditary thrombophilia due to congenital protein S deficiency' 'thrombophilia due to protein S deficiency, autosomal dominant' SubClassOf 'hereditary thrombophilia due to congenital protein S deficiency' http://purl.obolibrary.org/obo/MONDO_0012866 hereditary spastic paraplegia 35 'hereditary spastic paraplegia 35' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 35' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012867 hereditary spastic paraplegia 38 'hereditary spastic paraplegia 38' SubClassOf 'autosomal dominant complex spastic paraplegia' 'hereditary spastic paraplegia 38' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012864 chromosome 2q32-q33 deletion syndrome 'chromosome 2q32-q33 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' 'chromosome 2q32-q33 deletion syndrome' SubClassOf 'SATB2 associated disorder' 'chromosome 2q32-q33 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' 'chromosome 2q32-q33 deletion syndrome' SubClassOf 'SATB2 associated disorder' http://purl.obolibrary.org/obo/MONDO_0012865 Pseudofolliculitis barbae 'Pseudofolliculitis barbae' SubClassOf 'genetic disorder' 'Pseudofolliculitis barbae' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012871 Jervell and Lange-Nielsen syndrome 2 'Jervell and Lange-Nielsen syndrome 2' SubClassOf 'Jervell and Lange-Nielsen syndrome' 'Jervell and Lange-Nielsen syndrome 2' SubClassOf 'Jervell and Lange-Nielsen syndrome' http://purl.obolibrary.org/obo/MONDO_0957224 congenital myopathy 21 with early respiratory failure 'congenital myopathy 21 with early respiratory failure' SubClassOf 'congenital myopathy' 'congenital myopathy 21 with early respiratory failure' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0012876 heparin cofactor 2 deficiency 'heparin cofactor 2 deficiency' SubClassOf 'inherited thrombophilia' 'heparin cofactor 2 deficiency' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0012873 Ehlers-Danlos syndrome, spondylocheirodysplastic type 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'spondyloepiphyseal dysplasia' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Ehlers-Danlos syndrome, spondylodysplastic type' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'spondyloepiphyseal dysplasia' 'Ehlers-Danlos syndrome, spondylocheirodysplastic type' SubClassOf 'Ehlers-Danlos syndrome, spondylodysplastic type' http://purl.obolibrary.org/obo/MONDO_0957228 intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities 'intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0957229 hatipoglu immunodeficiency syndrome 'hatipoglu immunodeficiency syndrome' SubClassOf 'immunodeficiency disease' 'hatipoglu immunodeficiency syndrome' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0957260 combined low LDL and fibrinogen 'combined low LDL and fibrinogen' SubClassOf 'genetic disorder' 'combined low LDL and fibrinogen' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957261 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7 'pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' 'pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' http://purl.obolibrary.org/obo/MONDO_0957263 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 'pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' 'pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' http://purl.obolibrary.org/obo/MONDO_0957265 congenital myopathy 22B, severe fetal 'congenital myopathy 22B, severe fetal' SubClassOf 'congenital myopathy' 'congenital myopathy 22B, severe fetal' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0012880 hypogonadotropic hypogonadism 5 with or without anosmia 'hypogonadotropic hypogonadism 5 with or without anosmia' SubClassOf 'Kallmann syndrome' 'hypogonadotropic hypogonadism 5 with or without anosmia' SubClassOf 'Kallmann syndrome' http://purl.obolibrary.org/obo/MONDO_0012885 SRD5A3-congenital disorder of glycosylation 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0012893 osteoarthritis susceptibility 5 'osteoarthritis susceptibility 5' SubClassOf 'predisposes towards' some 'osteoarthritis' 'osteoarthritis susceptibility 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'osteoarthritis' http://purl.obolibrary.org/obo/MONDO_0012892 bone fragility with contractures, arterial rupture, and deafness 'bone fragility with contractures, arterial rupture, and deafness' SubClassOf 'hereditary disorder of connective tissue' 'bone fragility with contractures, arterial rupture, and deafness' SubClassOf 'developmental defect during embryogenesis' 'bone fragility with contractures, arterial rupture, and deafness' SubClassOf 'hereditary disorder of connective tissue' 'bone fragility with contractures, arterial rupture, and deafness' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0012897 congenital factor XI deficiency 'congenital factor XI deficiency' SubClassOf 'autosomal genetic disease' 'congenital factor XI deficiency' SubClassOf 'hemorrhagic disease' 'congenital factor XI deficiency' SubClassOf 'inherited blood coagulation disorder' 'congenital factor XI deficiency' SubClassOf 'autosomal genetic disease' 'congenital factor XI deficiency' SubClassOf 'hemorrhagic disease' 'congenital factor XI deficiency' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0012895 torsion dystonia 17 'torsion dystonia 17' SubClassOf 'focal, segmental or multifocal dystonia' 'torsion dystonia 17' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0022208 crystal arthropathy 'crystal arthropathy' SubClassOf 'joint disease' 'crystal arthropathy' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0022236 colpocephaly 'colpocephaly' SubClassOf 'brain disease' 'colpocephaly' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0036870 lymphatic vessel neoplasm 'lymphatic vessel neoplasm' SubClassOf 'vascular neoplasm' 'lymphatic vessel neoplasm' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0957211 neurodegeneration and seizures due to copper transport defect 'neurodegeneration and seizures due to copper transport defect' SubClassOf 'genetic disorder' 'neurodegeneration and seizures due to copper transport defect' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957204 autoinflammation with pulmonary and cutaneous vasculitis 'autoinflammation with pulmonary and cutaneous vasculitis' SubClassOf 'genetic disorder' 'autoinflammation with pulmonary and cutaneous vasculitis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0022293 vascular disorder of penis 'vascular disorder of penis' SubClassOf 'vascular disease' 'vascular disorder of penis' SubClassOf 'penile disorder' 'vascular disorder of penis' SubClassOf 'vascular disease' 'vascular disorder of penis' SubClassOf 'penile disorder' http://purl.obolibrary.org/obo/MONDO_0022096 pyogenic granuloma 'pyogenic granuloma' SubClassOf 'capillary hemangioma' 'pyogenic granuloma' SubClassOf 'capillary hemangioma' http://purl.obolibrary.org/obo/MONDO_0850514 inclusion body myopathy and brain white matter abnormalities 'inclusion body myopathy and brain white matter abnormalities' SubClassOf 'autosomal dominant disease' 'inclusion body myopathy and brain white matter abnormalities' SubClassOf 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' 'inclusion body myopathy and brain white matter abnormalities' SubClassOf 'autosomal dominant disease' 'inclusion body myopathy and brain white matter abnormalities' SubClassOf 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' http://purl.obolibrary.org/obo/MONDO_0012709 microphthalmia, isolated, with coloboma 5 'microphthalmia, isolated, with coloboma 5' SubClassOf 'microphthalmia, isolated, with coloboma' 'microphthalmia, isolated, with coloboma 5' SubClassOf 'microphthalmia, isolated, with coloboma' http://purl.obolibrary.org/obo/MONDO_0012704 dilated cardiomyopathy 1X 'dilated cardiomyopathy 1X' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1X' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012701 cataract 12 multiple types 'cataract 12 multiple types' SubClassOf 'cataract' 'cataract 12 multiple types' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0012700 renal tubular acidosis, distal, 4, with hemolytic anemia 'renal tubular acidosis, distal, 4, with hemolytic anemia' SubClassOf 'distal renal tubular acidosis' 'renal tubular acidosis, distal, 4, with hemolytic anemia' SubClassOf 'distal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0012714 early-onset myopathy with fatal cardiomyopathy 'early-onset myopathy with fatal cardiomyopathy' SubClassOf 'autosomal recessive titinopathy' 'early-onset myopathy with fatal cardiomyopathy' SubClassOf 'autosomal recessive titinopathy' http://purl.obolibrary.org/obo/MONDO_0012718 hypotonia with lactic acidemia and hyperammonemia 'hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'combined oxidative phosphorylation deficiency' 'hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012719 combined PSAP deficiency 'combined PSAP deficiency' SubClassOf 'PSAP-related sphingolipidosis' 'combined PSAP deficiency' SubClassOf 'PSAP-related sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0012716 spondyloepiphyseal dysplasia, Cantu type 'spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012725 lipoprotein glomerulopathy 'lipoprotein glomerulopathy' SubClassOf 'syndromic dyslipidemia' 'lipoprotein glomerulopathy' SubClassOf 'syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'syndromic disease' 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'cardiovascular disease' 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'syndromic disease' 'autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome' SubClassOf 'cardiovascular disease' http://purl.obolibrary.org/obo/MONDO_0012723 Leber congenital amaurosis 10 'Leber congenital amaurosis 10' SubClassOf 'CEP290-related ciliopathy' 'Leber congenital amaurosis 10' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 10' SubClassOf 'CEP290-related ciliopathy' 'Leber congenital amaurosis 10' SubClassOf 'Leber congenital amaurosis' http://purl.obolibrary.org/obo/MONDO_0012724 familial cold autoinflammatory syndrome 2 'familial cold autoinflammatory syndrome 2' SubClassOf 'familial cold autoinflammatory syndrome' 'familial cold autoinflammatory syndrome 2' SubClassOf 'familial cold autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0012729 erythrocytosis, familial, 4 'erythrocytosis, familial, 4' SubClassOf 'familial polycythemia' 'erythrocytosis, familial, 4' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0012721 progressive myoclonic epilepsy type 3 'progressive myoclonic epilepsy type 3' SubClassOf 'neuronal ceroid lipofuscinosis' 'progressive myoclonic epilepsy type 3' SubClassOf 'progressive myoclonus epilepsy' 'progressive myoclonic epilepsy type 3' SubClassOf 'neuronal ceroid lipofuscinosis' 'progressive myoclonic epilepsy type 3' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0012720 Krabbe disease due to saposin A deficiency 'Krabbe disease due to saposin A deficiency' SubClassOf 'disease shares features of' some 'Krabbe disease' 'Krabbe disease due to saposin A deficiency' SubClassOf 'PSAP-related sphingolipidosis' 'Krabbe disease due to saposin A deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Krabbe disease' 'Krabbe disease due to saposin A deficiency' SubClassOf 'PSAP-related sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0012736 long QT syndrome 9 'long QT syndrome 9' SubClassOf 'familial long QT syndrome' 'long QT syndrome 9' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0012737 long QT syndrome 10 'long QT syndrome 10' SubClassOf 'familial long QT syndrome' 'long QT syndrome 10' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0012734 SERKAL syndrome 'SERKAL syndrome' SubClassOf '46 XX gonadal dysgenesis' 'SERKAL syndrome' SubClassOf '46 XX gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0012738 long QT syndrome 11 'long QT syndrome 11' SubClassOf 'familial long QT syndrome' 'long QT syndrome 11' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 'microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'syndromic disease' 'microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'disorder of visual system' 'microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'syndromic disease' 'microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0012733 autosomal recessive bestrophinopathy 'autosomal recessive bestrophinopathy' SubClassOf 'macular degeneration' 'autosomal recessive bestrophinopathy' SubClassOf 'BEST1-related recessive retinopathy' 'autosomal recessive bestrophinopathy' SubClassOf 'macular degeneration' 'autosomal recessive bestrophinopathy' SubClassOf 'BEST1-related recessive retinopathy' http://purl.obolibrary.org/obo/MONDO_0012730 aortic aneurysm, familial thoracic 6 'aortic aneurysm, familial thoracic 6' SubClassOf 'familial thoracic aortic aneurysm and aortic dissection' 'aortic aneurysm, familial thoracic 6' SubClassOf 'familial thoracic aortic aneurysm and aortic dissection' http://purl.obolibrary.org/obo/MONDO_0012747 glycogen storage disease due to aldolase A deficiency 'glycogen storage disease due to aldolase A deficiency' SubClassOf 'disorder of glycolysis' 'glycogen storage disease due to aldolase A deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0012745 dilated cardiomyopathy 1Z 'dilated cardiomyopathy 1Z' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1Z' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012746 dilated cardiomyopathy 2A 'dilated cardiomyopathy 2A' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 2A' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012742 Brugada syndrome 3 'Brugada syndrome 3' SubClassOf 'Brugada syndrome' 'Brugada syndrome 3' SubClassOf 'Brugada syndrome' http://purl.obolibrary.org/obo/MONDO_0012756 proximal 16p11.2 microdeletion syndrome 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism' 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' 'proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism' http://purl.obolibrary.org/obo/MONDO_0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome 'lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf 'primary interstitial lung disease specific to childhood' 'lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf 'T-B+ severe combined immunodeficiency' 'lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf 'primary interstitial lung disease specific to childhood' 'lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012750 lethal arthrogryposis-anterior horn cell disease syndrome 'lethal arthrogryposis-anterior horn cell disease syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'lethal arthrogryposis-anterior horn cell disease syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0012755 episodic ataxia type 7 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0012767 age related macular degeneration 11 'age related macular degeneration 11' SubClassOf 'age-related macular degeneration' 'age related macular degeneration 11' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0957385 dystonia 37, early-onset, with striatal lesions 'dystonia 37, early-onset, with striatal lesions' SubClassOf 'inherited dystonia' 'dystonia 37, early-onset, with striatal lesions' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0012761 chromosome 3q29 microduplication syndrome 'chromosome 3q29 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 3' 'chromosome 3q29 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0012766 hereditary spastic paraplegia 37 'hereditary spastic paraplegia 37' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 37' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012774 chromosome 15q13.3 microdeletion syndrome 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012775 thrombocytopenia 4 'thrombocytopenia 4' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia 4' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0022113 central centrifugal cicatricial alopecia 'central centrifugal cicatricial alopecia' SubClassOf 'genetic disorder' 'central centrifugal cicatricial alopecia' SubClassOf 'alopecia' 'central centrifugal cicatricial alopecia' SubClassOf 'genetic disorder' 'central centrifugal cicatricial alopecia' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0012789 dystonia 16 'dystonia 16' SubClassOf 'combined dystonia' 'dystonia 16' SubClassOf 'parkinsonian disorder' 'dystonia 16' SubClassOf 'multifocal dystonia' 'dystonia 16' SubClassOf 'combined dystonia' 'dystonia 16' SubClassOf 'parkinsonian disorder' 'dystonia 16' SubClassOf 'multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0012783 RFT1-congenital disorder of glycosylation 'RFT1-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'RFT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'RFT1-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'RFT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0012784 autosomal recessive ataxia due to ubiquinone deficiency 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'coenzyme Q10 deficiency' 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'coenzyme Q10 deficiency' 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0012787 hereditary spastic paraplegia 39 'hereditary spastic paraplegia 39' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 39' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012786 juvenile cataract-microcornea-renal glucosuria syndrome 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0957318 nephrolithiasis, calcium oxalate 'nephrolithiasis, calcium oxalate' SubClassOf 'nephrolithiasis' 'nephrolithiasis, calcium oxalate' SubClassOf 'nephrolithiasis' http://purl.obolibrary.org/obo/MONDO_0022103 chronic prostatitis 'chronic prostatitis' SubClassOf 'prostatitis' 'chronic prostatitis' SubClassOf 'prostatitis' http://purl.obolibrary.org/obo/MONDO_0012794 ANE syndrome 'ANE syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'ANE syndrome' SubClassOf 'syndromic disease' 'ANE syndrome' SubClassOf 'integumentary system disease' 'ANE syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'ANE syndrome' SubClassOf 'syndromic disease' 'ANE syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0012792 mitochondrial DNA depletion syndrome 8a 'mitochondrial DNA depletion syndrome 8a' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' 'mitochondrial DNA depletion syndrome 8a' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' http://purl.obolibrary.org/obo/MONDO_0012793 hypouricemia, renal, 2 'hypouricemia, renal, 2' SubClassOf 'hypouricemia, renal' 'hypouricemia, renal, 2' SubClassOf 'hypouricemia, renal' http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy 11 'hypertrophic cardiomyopathy 11' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 11' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012796 retinitis pigmentosa 41 'retinitis pigmentosa 41' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 41' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0957307 woolly hair-skin fragility syndrome 'woolly hair-skin fragility syndrome' SubClassOf 'genetic disorder' 'woolly hair-skin fragility syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957308 spastic paraplegia 90A, autosomal dominant 'spastic paraplegia 90A, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 90A, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0957309 spastic paraplegia 90B, autosomal recessive 'spastic paraplegia 90B, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 90B, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 'mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' 'mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'syndromic disease' 'mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'syndromic disease' 'mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' http://purl.obolibrary.org/obo/MONDO_0022177 chromosome 13q trisomy 'chromosome 13q trisomy' SubClassOf 'partial duplication of chromosome 13' 'chromosome 13q trisomy' SubClassOf 'partial duplication of chromosome 13' http://purl.obolibrary.org/obo/MONDO_0022173 chromosome 11q trisomy 'chromosome 11q trisomy' SubClassOf 'partial duplication of chromosome 11' 'chromosome 11q trisomy' SubClassOf 'partial duplication of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0022174 chromosome 12p deletion 'chromosome 12p deletion' SubClassOf 'partial deletion of chromosome 12' 'chromosome 12p deletion' SubClassOf 'partial deletion of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0017405 1p21.3 microdeletion syndrome '1p21.3 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 1' '1p21.3 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 'hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 'rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome' SubClassOf 'endocrine system disease' 'rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0017401 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 'familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'familial isolated arrhythmogenic ventricular dysplasia, left dominant form' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0017402 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 'familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'familial isolated arrhythmogenic ventricular dysplasia, biventricular form' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 'familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'familial isolated arrhythmogenic ventricular dysplasia, right dominant form' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 'hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'syndromic disease' 'hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017417 renal-hepatic-pancreatic dysplasia 'renal-hepatic-pancreatic dysplasia' SubClassOf 'genetic disorder' 'renal-hepatic-pancreatic dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017419 non-syndromic amelia 'non-syndromic amelia' SubClassOf 'non-syndromic limb reduction defect' 'non-syndromic amelia' SubClassOf 'dysostosis' 'non-syndromic amelia' SubClassOf 'non-syndromic limb reduction defect' 'non-syndromic amelia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017413 Reunion island Larsen syndrome 'Reunion island Larsen syndrome' SubClassOf 'syndromic disease' 'Reunion island Larsen syndrome' SubClassOf 'disorder of multiple glycosylation' 'Reunion island Larsen syndrome' SubClassOf 'syndromic disease' 'Reunion island Larsen syndrome' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0017415 multiple pterygium syndrome 'multiple pterygium syndrome' SubClassOf 'arthrogryposis syndrome' 'multiple pterygium syndrome' SubClassOf 'arthrogryposis syndrome' http://purl.obolibrary.org/obo/MONDO_0017410 porencephaly 'porencephaly' SubClassOf 'encephaloclastic disorder' 'porencephaly' SubClassOf 'encephaloclastic disorder' http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease 'neonatal inflammatory skin and bowel disease' SubClassOf 'epidermal disease' 'neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' 'neonatal inflammatory skin and bowel disease' SubClassOf 'epidermal disease' 'neonatal inflammatory skin and bowel disease' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0017427 congenital deformities of limbs 'congenital deformities of limbs' SubClassOf 'disorder of development or morphogenesis' 'congenital deformities of limbs' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017424 non-syndromic brachydactyly 'non-syndromic brachydactyly' SubClassOf 'brachydactyly' 'non-syndromic brachydactyly' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0017425 preaxial polydactyly of fingers 'preaxial polydactyly of fingers' SubClassOf 'non-syndromic polydactyly' 'preaxial polydactyly of fingers' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0017426 postaxial polydactyly of fingers 'postaxial polydactyly of fingers' SubClassOf 'non-syndromic polydactyly' 'postaxial polydactyly of fingers' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0017438 amelia of lower limb 'amelia of lower limb' SubClassOf 'non-syndromic amelia' 'amelia of lower limb' SubClassOf 'non-syndromic amelia' http://purl.obolibrary.org/obo/MONDO_0017439 tetra-amelia 'tetra-amelia' SubClassOf 'non-syndromic amelia' 'tetra-amelia' SubClassOf 'non-syndromic amelia' http://purl.obolibrary.org/obo/MONDO_0017435 popliteal pterygium syndrome 'popliteal pterygium syndrome' SubClassOf 'syndromic disease' 'popliteal pterygium syndrome' SubClassOf 'arthrogryposis syndrome' 'popliteal pterygium syndrome' SubClassOf 'syndromic disease' 'popliteal pterygium syndrome' SubClassOf 'arthrogryposis syndrome' http://purl.obolibrary.org/obo/MONDO_0017436 lethal congenital contracture syndrome 'lethal congenital contracture syndrome' SubClassOf 'arthrogryposis syndrome' 'lethal congenital contracture syndrome' SubClassOf 'arthrogryposis syndrome' http://purl.obolibrary.org/obo/MONDO_0017437 amelia of upper limb 'amelia of upper limb' SubClassOf 'non-syndromic amelia' 'amelia of upper limb' SubClassOf 'non-syndromic amelia' http://purl.obolibrary.org/obo/MONDO_0017449 split hand 'split hand' SubClassOf 'dysostosis' 'split hand' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017445 acheiria 'acheiria' SubClassOf 'dysostosis' 'acheiria' SubClassOf 'skeletal dysplasia' 'acheiria' SubClassOf 'dysostosis' 'acheiria' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017446 apodia 'apodia' SubClassOf 'dysostosis' 'apodia' SubClassOf 'skeletal dysplasia' 'apodia' SubClassOf 'dysostosis' 'apodia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017441 congenital absence of upper arm and forearm with hand present 'congenital absence of upper arm and forearm with hand present' SubClassOf 'skeletal dysplasia' 'congenital absence of upper arm and forearm with hand present' SubClassOf 'dysostosis' 'congenital absence of upper arm and forearm with hand present' SubClassOf 'skeletal dysplasia' 'congenital absence of upper arm and forearm with hand present' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017442 congenital absence of thigh and lower leg with foot present 'congenital absence of thigh and lower leg with foot present' SubClassOf 'skeletal dysplasia' 'congenital absence of thigh and lower leg with foot present' SubClassOf 'dysostosis' 'congenital absence of thigh and lower leg with foot present' SubClassOf 'skeletal dysplasia' 'congenital absence of thigh and lower leg with foot present' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017443 congenital absence of both forearm and hand 'congenital absence of both forearm and hand' SubClassOf 'skeletal dysplasia' 'congenital absence of both forearm and hand' SubClassOf 'dysostosis' 'congenital absence of both forearm and hand' SubClassOf 'skeletal dysplasia' 'congenital absence of both forearm and hand' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017444 congenital absence of both lower leg and foot 'congenital absence of both lower leg and foot' SubClassOf 'skeletal dysplasia' 'congenital absence of both lower leg and foot' SubClassOf 'dysostosis' 'congenital absence of both lower leg and foot' SubClassOf 'skeletal dysplasia' 'congenital absence of both lower leg and foot' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017440 humeral agenesis/hypoplasia 'humeral agenesis/hypoplasia' SubClassOf 'non-syndromic limb reduction defect' 'humeral agenesis/hypoplasia' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0017456 central polydactyly of fingers 'central polydactyly of fingers' SubClassOf 'non-syndromic polydactyly' 'central polydactyly of fingers' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0017457 Preaxial polydactyly of toes 'Preaxial polydactyly of toes' SubClassOf 'non-syndromic polydactyly' 'Preaxial polydactyly of toes' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0017452 non-syndromic brachydactyly of toes 'non-syndromic brachydactyly of toes' SubClassOf 'non-syndromic brachydactyly' 'non-syndromic brachydactyly of toes' SubClassOf 'non-syndromic brachydactyly' http://purl.obolibrary.org/obo/MONDO_0017454 triphalangeal thumb-polysyndactyly syndrome 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'congenital limb malformation' 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'disease has major feature' some 'polydactyly of a triphalangeal thumb' 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'polydactyly of a triphalangeal thumb' 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0017455 hyperphalangy 'hyperphalangy' SubClassOf 'dysostosis' 'hyperphalangy' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017450 split foot 'split foot' SubClassOf 'dysostosis' 'split foot' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017451 non-syndromic brachydactyly of fingers 'non-syndromic brachydactyly of fingers' SubClassOf 'non-syndromic brachydactyly' 'non-syndromic brachydactyly of fingers' SubClassOf 'non-syndromic brachydactyly' http://purl.obolibrary.org/obo/MONDO_0017468 congenital shoulder dislocation 'congenital shoulder dislocation' SubClassOf 'disorder of development or morphogenesis' 'congenital shoulder dislocation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017469 congenital elbow dislocation 'congenital elbow dislocation' SubClassOf 'disorder of development or morphogenesis' 'congenital elbow dislocation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017463 congenital pseudoarthrosis of the femur 'congenital pseudoarthrosis of the femur' SubClassOf 'congenital pseudoarthrosis of the limbs' 'congenital pseudoarthrosis of the femur' SubClassOf 'congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/MONDO_0017464 congenital pseudoarthrosis of the fibula 'congenital pseudoarthrosis of the fibula' SubClassOf 'congenital pseudoarthrosis of the limbs' 'congenital pseudoarthrosis of the fibula' SubClassOf 'congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/MONDO_0017465 congenital pseudoarthrosis of the radius 'congenital pseudoarthrosis of the radius' SubClassOf 'congenital pseudoarthrosis of the limbs' 'congenital pseudoarthrosis of the radius' SubClassOf 'congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/MONDO_0017466 congenital pseudoarthrosis of the ulna 'congenital pseudoarthrosis of the ulna' SubClassOf 'congenital pseudoarthrosis of the limbs' 'congenital pseudoarthrosis of the ulna' SubClassOf 'congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/MONDO_0017460 syndactyly type 6 'syndactyly type 6' SubClassOf 'non-syndromic syndactyly' 'syndactyly type 6' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0017461 familial isolated clinodactyly of fingers 'familial isolated clinodactyly of fingers' SubClassOf 'disorder of development or morphogenesis' 'familial isolated clinodactyly of fingers' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017462 congenital pseudoarthrosis of the tibia 'congenital pseudoarthrosis of the tibia' SubClassOf 'congenital pseudoarthrosis of the limbs' 'congenital pseudoarthrosis of the tibia' SubClassOf 'congenital pseudoarthrosis of the limbs' http://purl.obolibrary.org/obo/MONDO_0017480 amelia of lower limb, unilateral 'amelia of lower limb, unilateral' SubClassOf 'amelia of lower limb' 'amelia of lower limb, unilateral' SubClassOf 'amelia of lower limb' http://purl.obolibrary.org/obo/MONDO_0017478 amelia of upper limb, unilateral 'amelia of upper limb, unilateral' SubClassOf 'amelia of upper limb' 'amelia of upper limb, unilateral' SubClassOf 'amelia of upper limb' http://purl.obolibrary.org/obo/MONDO_0017479 amelia of upper limb, bilateral 'amelia of upper limb, bilateral' SubClassOf 'amelia of upper limb' 'amelia of upper limb, bilateral' SubClassOf 'amelia of upper limb' http://purl.obolibrary.org/obo/MONDO_0017474 macrodactyly of fingers 'macrodactyly of fingers' SubClassOf 'disorder of development or morphogenesis' 'macrodactyly of fingers' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017475 macrodactyly of toes 'macrodactyly of toes' SubClassOf 'disorder of development or morphogenesis' 'macrodactyly of toes' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017476 upper limb hypertrophy 'upper limb hypertrophy' SubClassOf 'disorder of development or morphogenesis' 'upper limb hypertrophy' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017477 lower limb hypertrophy 'lower limb hypertrophy' SubClassOf 'disorder of development or morphogenesis' 'lower limb hypertrophy' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017470 congenital knee dislocation 'congenital knee dislocation' SubClassOf 'disorder of development or morphogenesis' 'congenital knee dislocation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017471 congenital patella dislocation 'congenital patella dislocation' SubClassOf 'disorder of development or morphogenesis' 'congenital patella dislocation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017472 patella aplasia/hypoplasia, unilateral 'patella aplasia/hypoplasia, unilateral' SubClassOf 'patella aplasia/hypoplasia' 'patella aplasia/hypoplasia, unilateral' SubClassOf 'patella aplasia/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017473 patella aplasia/hypoplasia, bilateral 'patella aplasia/hypoplasia, bilateral' SubClassOf 'patella aplasia/hypoplasia' 'patella aplasia/hypoplasia, bilateral' SubClassOf 'patella aplasia/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017490 tibial hemimelia, unilateral 'tibial hemimelia, unilateral' SubClassOf 'tibial hemimelia' 'tibial hemimelia, unilateral' SubClassOf 'tibial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017491 tibial hemimelia, bilateral 'tibial hemimelia, bilateral' SubClassOf 'tibial hemimelia' 'tibial hemimelia, bilateral' SubClassOf 'tibial hemimelia' http://purl.obolibrary.org/obo/MONDO_0042451 endomyometritis 'endomyometritis' SubClassOf 'Endometritis' 'endomyometritis' SubClassOf 'Endometritis' http://purl.obolibrary.org/obo/MONDO_0017489 ulnar hemimelia, unilateral 'ulnar hemimelia, unilateral' SubClassOf 'ulnar hemimelia' 'ulnar hemimelia, unilateral' SubClassOf 'ulnar hemimelia' http://purl.obolibrary.org/obo/MONDO_0017485 femoral agenesis/hypoplasia, bilateral 'femoral agenesis/hypoplasia, bilateral' SubClassOf 'femoral agenesis/hypoplasia' 'femoral agenesis/hypoplasia, bilateral' SubClassOf 'femoral agenesis/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017486 radial hemimelia, unilateral 'radial hemimelia, unilateral' SubClassOf 'radial hemimelia' 'radial hemimelia, unilateral' SubClassOf 'radial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017487 radial hemimelia, bilateral 'radial hemimelia, bilateral' SubClassOf 'radial hemimelia' 'radial hemimelia, bilateral' SubClassOf 'radial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017488 ulnar hemimelia, bilateral 'ulnar hemimelia, bilateral' SubClassOf 'ulnar hemimelia' 'ulnar hemimelia, bilateral' SubClassOf 'ulnar hemimelia' http://purl.obolibrary.org/obo/MONDO_0017481 amelia of lower limb, bilateral 'amelia of lower limb, bilateral' SubClassOf 'amelia of lower limb' 'amelia of lower limb, bilateral' SubClassOf 'amelia of lower limb' http://purl.obolibrary.org/obo/MONDO_0017482 humeral agenesis/hypoplasia, unilateral 'humeral agenesis/hypoplasia, unilateral' SubClassOf 'humeral agenesis/hypoplasia' 'humeral agenesis/hypoplasia, unilateral' SubClassOf 'humeral agenesis/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017483 humeral agenesis/hypoplasia, bilateral 'humeral agenesis/hypoplasia, bilateral' SubClassOf 'humeral agenesis/hypoplasia' 'humeral agenesis/hypoplasia, bilateral' SubClassOf 'humeral agenesis/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017484 femoral agenesis/hypoplasia, unilateral 'femoral agenesis/hypoplasia, unilateral' SubClassOf 'femoral agenesis/hypoplasia' 'femoral agenesis/hypoplasia, unilateral' SubClassOf 'femoral agenesis/hypoplasia' http://purl.obolibrary.org/obo/MONDO_0017496 congenital absence of thigh and lower leg with foot present, unilateral 'congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'congenital absence of thigh and lower leg with foot present' 'congenital absence of thigh and lower leg with foot present, unilateral' SubClassOf 'congenital absence of thigh and lower leg with foot present' http://purl.obolibrary.org/obo/MONDO_0017497 congenital absence of thigh and lower leg with foot present, bilateral 'congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'congenital absence of thigh and lower leg with foot present' 'congenital absence of thigh and lower leg with foot present, bilateral' SubClassOf 'congenital absence of thigh and lower leg with foot present' http://purl.obolibrary.org/obo/MONDO_0017498 congenital absence of both forearm and hand, unilateral 'congenital absence of both forearm and hand, unilateral' SubClassOf 'congenital absence of both forearm and hand' 'congenital absence of both forearm and hand, unilateral' SubClassOf 'congenital absence of both forearm and hand' http://purl.obolibrary.org/obo/MONDO_0017499 congenital absence of both forearm and hand, bilateral 'congenital absence of both forearm and hand, bilateral' SubClassOf 'congenital absence of both forearm and hand' 'congenital absence of both forearm and hand, bilateral' SubClassOf 'congenital absence of both forearm and hand' http://purl.obolibrary.org/obo/MONDO_0017492 fibular hemimelia, unilateral 'fibular hemimelia, unilateral' SubClassOf 'fibular hemimelia' 'fibular hemimelia, unilateral' SubClassOf 'fibular hemimelia' http://purl.obolibrary.org/obo/MONDO_0017493 fibular hemimelia, bilateral 'fibular hemimelia, bilateral' SubClassOf 'fibular hemimelia' 'fibular hemimelia, bilateral' SubClassOf 'fibular hemimelia' http://purl.obolibrary.org/obo/MONDO_0042433 mycotic endocarditis 'mycotic endocarditis' SubClassOf 'infective endocarditis' 'mycotic endocarditis' SubClassOf 'fungal infectious disease' 'mycotic endocarditis' SubClassOf 'infective endocarditis' 'mycotic endocarditis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0042485 infective arthritis 'infective arthritis' SubClassOf 'arthritis' 'infective arthritis' SubClassOf 'arthritis' http://purl.obolibrary.org/obo/MONDO_0042488 Cestode infectious disease 'Cestode infectious disease' SubClassOf 'Helminthiasis' 'Cestode infectious disease' SubClassOf 'Helminthiasis' http://purl.obolibrary.org/obo/MONDO_0042484 disseminated sporotrichosis 'disseminated sporotrichosis' SubClassOf 'sporotrichosis' 'disseminated sporotrichosis' SubClassOf 'sporotrichosis' http://purl.obolibrary.org/obo/MONDO_0042491 cervical squamous intraepithelial neoplasia 'cervical squamous intraepithelial neoplasia' SubClassOf 'squamous cell intraepithelial neoplasia' 'cervical squamous intraepithelial neoplasia' SubClassOf 'cervical intraepithelial neoplasia' 'cervical squamous intraepithelial neoplasia' SubClassOf 'squamous cell intraepithelial neoplasia' 'cervical squamous intraepithelial neoplasia' SubClassOf 'cervical intraepithelial neoplasia' http://purl.obolibrary.org/obo/MONDO_0042497 mycotoxicosis 'mycotoxicosis' SubClassOf 'poisoning' 'mycotoxicosis' SubClassOf 'poisoning' http://purl.obolibrary.org/obo/MONDO_0042493 gastric non-hodgkin lymphoma 'gastric non-hodgkin lymphoma' SubClassOf 'gastric lymphoma' 'gastric non-hodgkin lymphoma' SubClassOf 'gastric lymphoma' http://purl.obolibrary.org/obo/MONDO_0042494 childhood malignant melanoma 'childhood malignant melanoma' SubClassOf 'childhood cancer' 'childhood malignant melanoma' SubClassOf 'melanoma' 'childhood malignant melanoma' SubClassOf 'childhood cancer' 'childhood malignant melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/MONDO_0042495 arteriosclerotic retinopathy 'arteriosclerotic retinopathy' SubClassOf 'arteriosclerosis disorder' 'arteriosclerotic retinopathy' SubClassOf 'arteriosclerosis disorder' http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus 'systemic lupus erythematosus' SubClassOf 'lupus erythematosus' 'systemic lupus erythematosus' SubClassOf 'lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'syndromic disease' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'inherited retinal dystrophy' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'syndromic disease' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007916 primary intestinal lymphangiectasia 'primary intestinal lymphangiectasia' SubClassOf 'intestinal lymphangiectasia' 'primary intestinal lymphangiectasia' SubClassOf 'intestinal lymphangiectasia' http://purl.obolibrary.org/obo/MONDO_0007917 lymphedema-cerebral arteriovenous anomaly syndrome 'lymphedema-cerebral arteriovenous anomaly syndrome' SubClassOf 'syndromic disease' 'lymphedema-cerebral arteriovenous anomaly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007924 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'autosomal dominant disease' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'overgrowth syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'vascular disease' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'intestinal polyposis syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'autosomal dominant disease' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'intestinal polyposis syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'overgrowth syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'vascular disease' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007922 lymphedema-distichiasis syndrome 'lymphedema-distichiasis syndrome' SubClassOf 'syndromic disease' 'lymphedema-distichiasis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007920 lymphatic malformation 5 'lymphatic malformation 5' SubClassOf 'lymphatic malformation' 'lymphatic malformation 5' SubClassOf 'craniofacial dystonia' 'lymphatic malformation 5' SubClassOf 'lymphatic malformation' 'lymphatic malformation 5' SubClassOf 'craniofacial dystonia' http://purl.obolibrary.org/obo/MONDO_0007927 congenital macroglossia 'congenital macroglossia' SubClassOf 'macroglossia' 'congenital macroglossia' SubClassOf 'macroglossia' http://purl.obolibrary.org/obo/MONDO_0007937 renal hypomagnesemia 2 'renal hypomagnesemia 2' SubClassOf 'familial primary hypomagnesemia with hypocalcuria' 'renal hypomagnesemia 2' SubClassOf 'familial primary hypomagnesemia with hypocalcuria' http://purl.obolibrary.org/obo/MONDO_0007934 benign concentric annular macular dystrophy 'benign concentric annular macular dystrophy' SubClassOf 'hereditary macular dystrophy' 'benign concentric annular macular dystrophy' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0007935 cystoid macular edema 'cystoid macular edema' SubClassOf 'macular retinal edema' 'cystoid macular edema' SubClassOf 'macular retinal edema' http://purl.obolibrary.org/obo/MONDO_0007931 vitelliform macular dystrophy 2 'vitelliform macular dystrophy 2' SubClassOf 'vitelliform macular dystrophy' 'vitelliform macular dystrophy 2' SubClassOf 'BEST1-related dominant retinopathy' 'vitelliform macular dystrophy 2' SubClassOf 'vitelliform macular dystrophy' 'vitelliform macular dystrophy 2' SubClassOf 'BEST1-related dominant retinopathy' http://purl.obolibrary.org/obo/MONDO_0007938 46,XY sex reversal 4 '46,XY sex reversal 4' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 4' SubClassOf '46,XY partial gonadal dysgenesis' '46,XY sex reversal 4' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 4' SubClassOf '46,XY partial gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0007947 Marfan syndrome 'Marfan syndrome' SubClassOf 'syndromic disease' 'Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Marfan syndrome' SubClassOf 'skeletal system disease' 'Marfan syndrome' SubClassOf 'autosomal dominant disease' 'Marfan syndrome' SubClassOf 'syndromic disease' 'Marfan syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Marfan syndrome' SubClassOf 'skeletal system disease' 'Marfan syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007946 jaw-winking syndrome 'jaw-winking syndrome' SubClassOf 'disorder of visual system' 'jaw-winking syndrome' SubClassOf 'cranial nerve neuropathy' 'jaw-winking syndrome' SubClassOf 'syndromic disease' 'jaw-winking syndrome' SubClassOf 'disorder of visual system' 'jaw-winking syndrome' SubClassOf 'cranial nerve neuropathy' 'jaw-winking syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007943 Nager acrofacial dysostosis 'Nager acrofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nager acrofacial dysostosis' SubClassOf 'syndromic disease' 'Nager acrofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nager acrofacial dysostosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007949 Marshall syndrome 'Marshall syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Marshall syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Marshall syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Marshall syndrome' SubClassOf 'eye disease' 'Marshall syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Marshall syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Marshall syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Marshall syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007958 familial medullary thyroid carcinoma 'familial medullary thyroid carcinoma' SubClassOf 'medullary thyroid gland carcinoma' 'familial medullary thyroid carcinoma' SubClassOf 'multiple endocrine neoplasia type 2' 'familial medullary thyroid carcinoma' SubClassOf 'medullary thyroid gland carcinoma' 'familial medullary thyroid carcinoma' SubClassOf 'multiple endocrine neoplasia type 2' http://purl.obolibrary.org/obo/MONDO_0032914 ciliary dyskinesia, primary, 44 'ciliary dyskinesia, primary, 44' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 44' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0032915 long QT syndrome 16 'long QT syndrome 16' SubClassOf 'catecholaminergic polymorphic ventricular tachycardia' 'long QT syndrome 16' SubClassOf 'familial long QT syndrome' 'long QT syndrome 16' SubClassOf 'catecholaminergic polymorphic ventricular tachycardia' 'long QT syndrome 16' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0007956 Pai syndrome 'Pai syndrome' SubClassOf 'frontonasal dysplasia' 'Pai syndrome' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0032912 Coffin-Siris syndrome 11 'Coffin-Siris syndrome 11' SubClassOf 'Coffin-Siris syndrome' 'Coffin-Siris syndrome 11' SubClassOf 'Coffin-Siris syndrome' http://purl.obolibrary.org/obo/MONDO_0032913 congenital heart defects, multiple types, 7 'congenital heart defects, multiple types, 7' SubClassOf 'genetic disorder' 'congenital heart defects, multiple types, 7' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032910 mitochondrial complex 1 deficiency, nuclear type 34 'mitochondrial complex 1 deficiency, nuclear type 34' SubClassOf 'mitochondrial complex I deficiency, nuclear type' 'mitochondrial complex 1 deficiency, nuclear type 34' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0032911 hearing loss, autosomal dominant 75 'hearing loss, autosomal dominant 75' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 75' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007953 Binder syndrome 'Binder syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Binder syndrome' SubClassOf 'nasal cavity disorder' 'Binder syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Binder syndrome' SubClassOf 'nasal cavity disorder' http://purl.obolibrary.org/obo/MONDO_0032918 developmental and epileptic encephalopathy, 84 'developmental and epileptic encephalopathy, 84' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 84' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0032919 intellectual developmental disorder 62 'intellectual developmental disorder 62' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual developmental disorder 62' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0032916 Imagawa-Matsumoto syndrome 'Imagawa-Matsumoto syndrome' SubClassOf 'genetic disorder' 'Imagawa-Matsumoto syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032917 hearing loss, autosomal dominant 76 'hearing loss, autosomal dominant 76' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 76' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 'arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0032904 corneal dystrophy, Meesmann, 2 'corneal dystrophy, Meesmann, 2' SubClassOf 'Meesmann corneal dystrophy' 'corneal dystrophy, Meesmann, 2' SubClassOf 'Meesmann corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0032901 Catifa syndrome 'Catifa syndrome' SubClassOf 'genetic disorder' 'Catifa syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032902 Joubert syndrome 36 'Joubert syndrome 36' SubClassOf 'Joubert syndrome' 'Joubert syndrome 36' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0007966 susceptibility to uveal melanoma 'susceptibility to uveal melanoma' SubClassOf 'predisposes towards' some 'Uveal Melanoma' 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Uveal Melanoma') 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Uveal Melanoma') 'susceptibility to uveal melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Uveal Melanoma' http://purl.obolibrary.org/obo/MONDO_0007961 megalencephaly, autosomal dominant 'megalencephaly, autosomal dominant' SubClassOf 'megalencephaly' 'megalencephaly, autosomal dominant' SubClassOf 'megalencephaly' http://purl.obolibrary.org/obo/MONDO_0007962 megalodactyly 'megalodactyly' SubClassOf 'disorder of development or morphogenesis' 'megalodactyly' SubClassOf 'genetic disorder' 'megalodactyly' SubClassOf 'disorder of development or morphogenesis' 'megalodactyly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032909 mitochondrial complex 3 deficiency, nuclear type 10 'mitochondrial complex 3 deficiency, nuclear type 10' SubClassOf 'mitochondrial complex III deficiency, nuclear type' 'mitochondrial complex 3 deficiency, nuclear type 10' SubClassOf 'mitochondrial complex III deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0032907 lymphatic malformation 8 'lymphatic malformation 8' SubClassOf 'lymphatic malformation' 'lymphatic malformation 8' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0032908 CEBALID syndrome 'CEBALID syndrome' SubClassOf 'genetic disorder' 'CEBALID syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032905 spastic paraplegia 81, autosomal recessive 'spastic paraplegia 81, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 81, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0032906 spastic paraplegia 82, autosomal recessive 'spastic paraplegia 82, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 82, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0032936 myopathy, congenital, with respiratory insufficiency and bone fractures 'myopathy, congenital, with respiratory insufficiency and bone fractures' SubClassOf 'congenital myopathy' 'myopathy, congenital, with respiratory insufficiency and bone fractures' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0032937 myopathy, congenital proximal, with minicore lesions 'myopathy, congenital proximal, with minicore lesions' SubClassOf 'congenital myopathy' 'myopathy, congenital proximal, with minicore lesions' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0032934 genitourinary and/or brain malformation syndrome 'genitourinary and/or brain malformation syndrome' SubClassOf 'genetic disorder' 'genitourinary and/or brain malformation syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007979 metachondromatosis 'metachondromatosis' SubClassOf 'genetic disorder' 'metachondromatosis' SubClassOf 'bone disease' 'metachondromatosis' SubClassOf 'genetic disorder' 'metachondromatosis' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0032935 rhizomelic limb shortening with dysmorphic features 'rhizomelic limb shortening with dysmorphic features' SubClassOf 'genetic disorder' 'rhizomelic limb shortening with dysmorphic features' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032932 mitochondrial DNA depletion syndrome 18 'mitochondrial DNA depletion syndrome 18' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 18' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0007977 mesomelic dysplasia, Kantaputra type 'mesomelic dysplasia, Kantaputra type' SubClassOf 'skeletal dysplasia' 'mesomelic dysplasia, Kantaputra type' SubClassOf 'mesomelic dysplasia' 'mesomelic dysplasia, Kantaputra type' SubClassOf 'skeletal dysplasia' 'mesomelic dysplasia, Kantaputra type' SubClassOf 'mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0032930 intellectual developmental disorder with poor growth and with or without seizures or ataxia 'intellectual developmental disorder with poor growth and with or without seizures or ataxia' SubClassOf 'genetic disorder' 'intellectual developmental disorder with poor growth and with or without seizures or ataxia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032931 pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal 'pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal' SubClassOf 'genetic disorder' 'pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007970 melorheostosis 'melorheostosis' SubClassOf 'osteopetrosis' 'melorheostosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0007971 delayed membranous cranial ossification 'delayed membranous cranial ossification' SubClassOf 'skeletal dysplasia' 'delayed membranous cranial ossification' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0032938 basal ganglia calcification, idiopathic, 8, autosomal recessive 'basal ganglia calcification, idiopathic, 8, autosomal recessive' SubClassOf 'bilateral striopallidodentate calcinosis' 'basal ganglia calcification, idiopathic, 8, autosomal recessive' SubClassOf 'bilateral striopallidodentate calcinosis' http://purl.obolibrary.org/obo/MONDO_0032939 intellectual developmental disorder, autosomal dominant 63, with macrocephaly 'intellectual developmental disorder, autosomal dominant 63, with macrocephaly' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual developmental disorder, autosomal dominant 63, with macrocephaly' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0032925 respiratory papillomatosis, juvenile recurrent, congenital 'respiratory papillomatosis, juvenile recurrent, congenital' SubClassOf 'genetic disorder' 'respiratory papillomatosis, juvenile recurrent, congenital' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032926 sandestig-stefanova syndrome 'sandestig-stefanova syndrome' SubClassOf 'genetic disorder' 'sandestig-stefanova syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007989 congenital microcoria 'congenital microcoria' SubClassOf 'iridogoniodysgenesis' 'congenital microcoria' SubClassOf 'iridogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0032923 spinocerebellar ataxia, autosomal recessive 28 'spinocerebellar ataxia, autosomal recessive 28' SubClassOf 'autosomal recessive cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive 28' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0032924 ciliary dyskinesia, primary, 45 'ciliary dyskinesia, primary, 45' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 45' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0007987 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'spondylometaphyseal dysplasia' 'Kniest dysplasia' SubClassOf 'type 2 collagenopathy' 'Kniest dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'Kniest dysplasia' SubClassOf 'spondylometaphyseal dysplasia' 'Kniest dysplasia' SubClassOf 'type 2 collagenopathy' 'Kniest dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007988 autosomal dominant primary microcephaly 'autosomal dominant primary microcephaly' SubClassOf 'isolated congenital microcephaly' 'autosomal dominant primary microcephaly' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'autosomal dominant primary microcephaly' SubClassOf 'autosomal dominant disease' 'autosomal dominant primary microcephaly' SubClassOf 'isolated congenital microcephaly' 'autosomal dominant primary microcephaly' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'autosomal dominant primary microcephaly' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0032922 Beck-Fahrner syndrome 'Beck-Fahrner syndrome' SubClassOf 'genetic disorder' 'Beck-Fahrner syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007986 metatropic dysplasia 'metatropic dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'metatropic dysplasia' SubClassOf 'TRPV4-related bone disorder' 'metatropic dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'metatropic dysplasia' SubClassOf 'TRPV4-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0032920 juvenile arthritis due to defect in LACC1 'juvenile arthritis due to defect in LACC1' SubClassOf 'genetic disorder' 'juvenile arthritis due to defect in LACC1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007983 Schmid metaphyseal chondrodysplasia 'Schmid metaphyseal chondrodysplasia' SubClassOf 'skeletal dysplasia' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'syndromic disease' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'osteochondrodysplasia' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'skeletal dysplasia' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'syndromic disease' 'Schmid metaphyseal chondrodysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007984 metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'syndromic disease' 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'skeletal dysplasia' 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'syndromic disease' 'metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007982 metaphyseal chondrodysplasia, Jansen type 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'syndromic disease' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'skeletal dysplasia' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'osteochondrodysplasia' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'syndromic disease' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'skeletal dysplasia' 'metaphyseal chondrodysplasia, Jansen type' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0032927 triokinase and FMN cyclase deficiency syndrome 'triokinase and FMN cyclase deficiency syndrome' SubClassOf 'genetic disorder' 'triokinase and FMN cyclase deficiency syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant 'T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant' SubClassOf 'genetic disorder' 'T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017306 disorder of phenylalanine metabolism 'disorder of phenylalanine metabolism' SubClassOf 'inborn disorder of phenylalanine and tyrosine metabolism' 'disorder of phenylalanine metabolism' SubClassOf 'inborn disorder of phenylalanine and tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism 'disorder of tyrosine metabolism' SubClassOf 'inborn disorder of phenylalanine and tyrosine metabolism' 'disorder of tyrosine metabolism' SubClassOf 'inborn disorder of phenylalanine and tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0017309 neonatal Marfan syndrome 'neonatal Marfan syndrome' SubClassOf 'Marfan syndrome' 'neonatal Marfan syndrome' SubClassOf 'Marfan syndrome' http://purl.obolibrary.org/obo/MONDO_0017303 qualitative or quantitative defects of tropomyosin 'qualitative or quantitative defects of tropomyosin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of tropomyosin' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0017304 ocular albinism 'ocular albinism' SubClassOf 'disorder of visual system' 'ocular albinism' SubClassOf 'disorder of melanin metabolism' 'ocular albinism' SubClassOf 'disorder of visual system' 'ocular albinism' SubClassOf 'disorder of melanin metabolism' http://purl.obolibrary.org/obo/MONDO_0017305 syndromic oculocutaneous albinism 'syndromic oculocutaneous albinism' SubClassOf 'syndromic disease' 'syndromic oculocutaneous albinism' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017301 pericardial and diaphragmatic defect 'pericardial and diaphragmatic defect' SubClassOf 'disorder of development or morphogenesis' 'pericardial and diaphragmatic defect' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007998 microspherophakia-metaphyseal dysplasia syndrome 'microspherophakia-metaphyseal dysplasia syndrome' SubClassOf 'genetic disorder' 'microspherophakia-metaphyseal dysplasia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007992 microcornea-glaucoma-absent frontal sinuses syndrome 'microcornea-glaucoma-absent frontal sinuses syndrome' SubClassOf 'eye disease' 'microcornea-glaucoma-absent frontal sinuses syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007990 multiple benign circumferential skin creases on limbs 'multiple benign circumferential skin creases on limbs' SubClassOf 'skin disease' 'multiple benign circumferential skin creases on limbs' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0007991 microcephaly-deafness-intellectual disability syndrome 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017317 phakomatosis pigmentokeratotica 'phakomatosis pigmentokeratotica' SubClassOf 'neurocutaneous syndrome' 'phakomatosis pigmentokeratotica' SubClassOf 'melanocytic nevus' 'phakomatosis pigmentokeratotica' SubClassOf 'neurocutaneous syndrome' 'phakomatosis pigmentokeratotica' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0017318 phakomatosis pigmentovascularis 'phakomatosis pigmentovascularis' SubClassOf 'neurocutaneous syndrome' 'phakomatosis pigmentovascularis' SubClassOf 'eye disease' 'phakomatosis pigmentovascularis' SubClassOf 'hyperpigmentation of the skin' 'phakomatosis pigmentovascularis' SubClassOf 'neurocutaneous syndrome' 'phakomatosis pigmentovascularis' SubClassOf 'eye disease' 'phakomatosis pigmentovascularis' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0017313 disorder of folate metabolism and transport 'disorder of folate metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' 'disorder of folate metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0017315 short stature-webbed neck-heart disease syndrome 'short stature-webbed neck-heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'short stature-webbed neck-heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 'short stature-deafness-neutrophil dysfunction-dysmorphism syndrome' SubClassOf 'syndromic disease' 'short stature-deafness-neutrophil dysfunction-dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017310 Marfan and Marfan-related disorder 'Marfan and Marfan-related disorder' SubClassOf 'hereditary disorder of connective tissue' 'Marfan and Marfan-related disorder' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0017312 Perrault syndrome 'Perrault syndrome' SubClassOf 'autosomal recessive disease' 'Perrault syndrome' SubClassOf 'inherited primary ovarian failure' 'Perrault syndrome' SubClassOf 'autosomal recessive disease' 'Perrault syndrome' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0017329 familial vesicoureteral reflux 'familial vesicoureteral reflux' SubClassOf 'vesicoureteral reflux' 'familial vesicoureteral reflux' SubClassOf 'vesicoureteral reflux' http://purl.obolibrary.org/obo/MONDO_0017324 autosomal recessive hypophosphatemic rickets 'autosomal recessive hypophosphatemic rickets' SubClassOf 'hereditary hypophosphatemic rickets' 'autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' 'autosomal recessive hypophosphatemic rickets' SubClassOf 'hereditary hypophosphatemic rickets' 'autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0017325 early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 'early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'childhood-onset epilepsy syndrome' 'early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0017320 phosphoenolpyruvate carboxykinase deficiency 'phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'disorder of gluconeogenesis' 'phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'disorder of gluconeogenesis' http://purl.obolibrary.org/obo/MONDO_0017321 pili torti-onychodysplasia syndrome 'pili torti-onychodysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'pili torti-onychodysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 'retinitis pigmentosa 88' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 88' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0017322 disorders of vitamin D metabolism 'disorders of vitamin D metabolism' SubClassOf 'endocrine system disease' 'disorders of vitamin D metabolism' SubClassOf 'vitamin metabolic disorder' 'disorders of vitamin D metabolism' SubClassOf 'endocrine system disease' 'disorders of vitamin D metabolism' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017323 hypocalcemic rickets 'hypocalcemic rickets' SubClassOf 'disorders of vitamin D metabolism' 'hypocalcemic rickets' SubClassOf 'rickets' 'hypocalcemic rickets' SubClassOf 'disorders of vitamin D metabolism' 'hypocalcemic rickets' SubClassOf 'rickets' http://purl.obolibrary.org/obo/MONDO_0017339 exfoliative ichthyosis 'exfoliative ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis' 'exfoliative ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0017335 microtriplication 11q24.1 'microtriplication 11q24.1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microtriplication 11q24.1' SubClassOf 'chromosome 11q trisomy' 'microtriplication 11q24.1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microtriplication 11q24.1' SubClassOf 'chromosome 11q trisomy' http://purl.obolibrary.org/obo/MONDO_0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 'inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency' SubClassOf 'chronic primary adrenal insufficiency' 'inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency' SubClassOf 'chronic primary adrenal insufficiency' http://purl.obolibrary.org/obo/MONDO_0017338 fatal multiple mitochondrial dysfunctions syndrome 'fatal multiple mitochondrial dysfunctions syndrome' SubClassOf 'inherited lipoic acid biosynthesis defect' 'fatal multiple mitochondrial dysfunctions syndrome' SubClassOf 'inherited lipoic acid biosynthesis defect' http://purl.obolibrary.org/obo/MONDO_0017331 Pilotto syndrome 'Pilotto syndrome' SubClassOf 'genetic disorder' 'Pilotto syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017334 12q15q21.1 microdeletion syndrome '12q15q21.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 12' '12q15q21.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'diffuse large B-cell lymphoma' 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'diffuse large B-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0017349 myopericytoma 'myopericytoma' SubClassOf 'pericytic neoplasm' 'myopericytoma' SubClassOf 'Epstein-Barr virus-associated mesenchymal tumor' 'myopericytoma' SubClassOf 'pericytic neoplasm' 'myopericytoma' SubClassOf 'Epstein-Barr virus-associated mesenchymal tumor' http://purl.obolibrary.org/obo/MONDO_0017342 Epstein-Barr virus-related tumor 'Epstein-Barr virus-related tumor' SubClassOf 'virus associated tumor' 'Epstein-Barr virus-related tumor' SubClassOf 'virus associated tumor' http://purl.obolibrary.org/obo/MONDO_0017343 Epstein-Barr virus-associated malignant lymphoproliferative disorder 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' SubClassOf 'Epstein-Barr virus-related tumor' 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' SubClassOf 'Epstein-Barr virus-related tumor' http://purl.obolibrary.org/obo/MONDO_0017344 Epstein-Barr virus-associated carcinoma 'Epstein-Barr virus-associated carcinoma' SubClassOf 'Epstein-Barr virus-related tumor' 'Epstein-Barr virus-associated carcinoma' SubClassOf 'Epstein-Barr virus-related tumor' http://purl.obolibrary.org/obo/MONDO_0017345 Epstein-Barr virus-associated mesenchymal tumor 'Epstein-Barr virus-associated mesenchymal tumor' SubClassOf 'Epstein-Barr virus-related tumor' 'Epstein-Barr virus-associated mesenchymal tumor' SubClassOf 'Epstein-Barr virus-related tumor' http://purl.obolibrary.org/obo/MONDO_0017340 juvenile nasopharyngeal angiofibroma 'juvenile nasopharyngeal angiofibroma' SubClassOf 'head and neck neoplasia' 'juvenile nasopharyngeal angiofibroma' SubClassOf 'otorhinolaryngologic disease' 'juvenile nasopharyngeal angiofibroma' SubClassOf 'head and neck neoplasia' 'juvenile nasopharyngeal angiofibroma' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor 'virus associated tumor' SubClassOf 'neoplasm' 'virus associated tumor' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0017359 3-methylglutaconic aciduria '3-methylglutaconic aciduria' SubClassOf 'classic organic aciduria' '3-methylglutaconic aciduria' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0017353 neonatal glycine encephalopathy 'neonatal glycine encephalopathy' SubClassOf 'glycine encephalopathy' 'neonatal glycine encephalopathy' SubClassOf 'glycine encephalopathy' http://purl.obolibrary.org/obo/MONDO_0017354 infantile glycine encephalopathy 'infantile glycine encephalopathy' SubClassOf 'glycine encephalopathy' 'infantile glycine encephalopathy' SubClassOf 'glycine encephalopathy' http://purl.obolibrary.org/obo/MONDO_0017355 inborn disorder of proline metabolism 'inborn disorder of proline metabolism' SubClassOf 'inborn disorder of ornithine or proline metabolism' 'inborn disorder of proline metabolism' SubClassOf 'inborn disorder of ornithine or proline metabolism' http://purl.obolibrary.org/obo/MONDO_0017356 inborn disorder of ornithine metabolism 'inborn disorder of ornithine metabolism' SubClassOf 'inborn disorder of ornithine or proline metabolism' 'inborn disorder of ornithine metabolism' SubClassOf 'inborn disorder of ornithine or proline metabolism' http://purl.obolibrary.org/obo/MONDO_0017350 inborn disorder of tryptophan metabolism 'inborn disorder of tryptophan metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of tryptophan metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017351 inborn disorder of lysine and hydroxylysine metabolism 'inborn disorder of lysine and hydroxylysine metabolism' SubClassOf 'inborn disorder of aspartate family metabolism' 'inborn disorder of lysine and hydroxylysine metabolism' SubClassOf 'inborn disorder of aspartate family metabolism' http://purl.obolibrary.org/obo/MONDO_0017352 disorder of glutamine metabolism 'disorder of glutamine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'disorder of glutamine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017365 hereditary acrokeratotic poikiloderma, Weary type 'hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'Kindler syndrome' 'hereditary acrokeratotic poikiloderma, Weary type' SubClassOf 'Kindler syndrome' http://purl.obolibrary.org/obo/MONDO_0017366 hereditary pheochromocytoma-paraganglioma 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'adrenal gland disease' 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0017360 vitamin B12-unresponsive methylmalonic acidemia type mut0 'vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' 'vitamin B12-unresponsive methylmalonic acidemia type mut0' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' http://purl.obolibrary.org/obo/MONDO_0017362 neuralgic amyotrophy 'neuralgic amyotrophy' SubClassOf 'acquired peripheral neuropathy' 'neuralgic amyotrophy' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0017380 juvenile polyposis syndrome 'juvenile polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'juvenile polyposis syndrome' SubClassOf 'digestive system disease' 'juvenile polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'juvenile polyposis syndrome' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'syndromic disease' 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017375 congenital enterovirus infection 'congenital enterovirus infection' SubClassOf 'infectious embryofetopathy' 'congenital enterovirus infection' SubClassOf 'infectious embryofetopathy' http://purl.obolibrary.org/obo/MONDO_0017377 preaxial polydactyly-colobomata-intellectual disability syndrome 'preaxial polydactyly-colobomata-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'preaxial polydactyly-colobomata-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017391 Grayson-Wilbrandt corneal dystrophy 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'Grayson-Wilbrandt corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0017392 pre-descemet corneal dystrophy 'pre-descemet corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'pre-descemet corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0017386 pleomorphic rhabdomyosarcoma 'pleomorphic rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'pleomorphic rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0017387 epithelioid sarcoma 'epithelioid sarcoma' SubClassOf 'soft tissue sarcoma' 'epithelioid sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'disease responds to' some 'sapropterin' 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'phenylketonuria' 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'sapropterin' 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0017382 familial clubfoot due to 5q31 microdeletion 'familial clubfoot due to 5q31 microdeletion' SubClassOf 'clubfoot' 'familial clubfoot due to 5q31 microdeletion' SubClassOf 'clubfoot' http://purl.obolibrary.org/obo/MONDO_0017383 familial clubfoot due to PITX1 point mutation 'familial clubfoot due to PITX1 point mutation' SubClassOf 'clubfoot' 'familial clubfoot due to PITX1 point mutation' SubClassOf 'clubfoot' http://purl.obolibrary.org/obo/MONDO_0017385 malignant migrating partial seizures of infancy 'malignant migrating partial seizures of infancy' SubClassOf 'neonatal epilepsy syndrome' 'malignant migrating partial seizures of infancy' SubClassOf 'neonatal epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0017398 3MC syndrome '3MC syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '3MC syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017393 blepharophimosis - intellectual disability syndrome 'blepharophimosis - intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'blepharophimosis - intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf 'syndromic disease' 'Pallister-Hall syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Pallister-Hall syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Pallister-Hall syndrome' SubClassOf 'syndromic disease' 'Pallister-Hall syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Pallister-Hall syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0007805 hypotrichosis 2 'hypotrichosis 2' SubClassOf 'hypotrichosis' 'hypotrichosis 2' SubClassOf 'hypotrichosis simplex of the scalp' 'hypotrichosis 2' SubClassOf 'hypotrichosis' 'hypotrichosis 2' SubClassOf 'hypotrichosis simplex of the scalp' http://purl.obolibrary.org/obo/MONDO_0007800 chromosome 18p deletion syndrome 'chromosome 18p deletion syndrome' SubClassOf 'partial deletion of chromosome 18' 'chromosome 18p deletion syndrome' SubClassOf 'syndromic disease' 'chromosome 18p deletion syndrome' SubClassOf 'partial deletion of chromosome 18' 'chromosome 18p deletion syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007808 ichthyosis hystrix of Curth-Macklin 'ichthyosis hystrix of Curth-Macklin' SubClassOf 'keratinopathic ichthyosis' 'ichthyosis hystrix of Curth-Macklin' SubClassOf 'ichthyosis hystrix' 'ichthyosis hystrix of Curth-Macklin' SubClassOf 'keratinopathic ichthyosis' 'ichthyosis hystrix of Curth-Macklin' SubClassOf 'ichthyosis hystrix' http://purl.obolibrary.org/obo/MONDO_0007809 ichthyosis histrix, Lambert type 'ichthyosis histrix, Lambert type' SubClassOf 'ichthyosis hystrix' 'ichthyosis histrix, Lambert type' SubClassOf 'ichthyosis hystrix' http://purl.obolibrary.org/obo/MONDO_0007813 superficial epidermolytic ichthyosis 'superficial epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' 'superficial epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0007814 immune deficiency, familial variable 'immune deficiency, familial variable' SubClassOf 'common variable immunodeficiency' 'immune deficiency, familial variable' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0007811 ichthyosis-cheek-eyebrow syndrome 'ichthyosis-cheek-eyebrow syndrome' SubClassOf 'genetic disorder' 'ichthyosis-cheek-eyebrow syndrome' SubClassOf 'syndromic disease' 'ichthyosis-cheek-eyebrow syndrome' SubClassOf 'genetic disorder' 'ichthyosis-cheek-eyebrow syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007812 ichthyosis, lamellar, autosomal dominant 'ichthyosis, lamellar, autosomal dominant' SubClassOf 'lamellar ichthyosis' 'ichthyosis, lamellar, autosomal dominant' SubClassOf 'lamellar ichthyosis' http://purl.obolibrary.org/obo/MONDO_0007810 autosomal dominant ichthyosis vulgaris 'autosomal dominant ichthyosis vulgaris' SubClassOf 'autosomal dominant disease' 'autosomal dominant ichthyosis vulgaris' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007819 solitary median maxillary central incisor syndrome 'solitary median maxillary central incisor syndrome' SubClassOf 'microform holoprosencephaly' 'solitary median maxillary central incisor syndrome' SubClassOf 'microform holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant 'hyper-IgE recurrent infection syndrome 1, autosomal dominant' SubClassOf 'hyper-IgE syndrome' 'hyper-IgE recurrent infection syndrome 1, autosomal dominant' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0007820 fused mandibular incisors 'fused mandibular incisors' SubClassOf 'genetic disorder' 'fused mandibular incisors' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007828 indifference to pain, congenital, autosomal dominant 'indifference to pain, congenital, autosomal dominant' SubClassOf 'genetic disorder' 'indifference to pain, congenital, autosomal dominant' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007837 Johnson neuroectodermal syndrome 'Johnson neuroectodermal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johnson neuroectodermal syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Johnson neuroectodermal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johnson neuroectodermal syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007838 Jacobsen syndrome 'Jacobsen syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'Jacobsen syndrome' SubClassOf 'syndromic disease' 'Jacobsen syndrome' SubClassOf 'partial deletion of the long arm of chromosome 11' 'Jacobsen syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'Jacobsen syndrome' SubClassOf 'syndromic disease' 'Jacobsen syndrome' SubClassOf 'partial deletion of the long arm of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0007836 IVIC syndrome 'IVIC syndrome' SubClassOf 'genetic disorder' 'IVIC syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007834 islet cell adenomatosis 'islet cell adenomatosis' SubClassOf 'genetic disorder' 'islet cell adenomatosis' SubClassOf 'endocrine pancreas disorder' 'islet cell adenomatosis' SubClassOf 'genetic disorder' 'islet cell adenomatosis' SubClassOf 'endocrine pancreas disorder' http://purl.obolibrary.org/obo/MONDO_0007839 Aase-Smith syndrome 'Aase-Smith syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Aase-Smith syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Aase-Smith syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0007848 autosomal dominant keratitis 'autosomal dominant keratitis' SubClassOf 'corneal dystrophy' 'autosomal dominant keratitis' SubClassOf 'autosomal dominant disease' 'autosomal dominant keratitis' SubClassOf 'keratitis' 'autosomal dominant keratitis' SubClassOf 'corneal dystrophy' 'autosomal dominant keratitis' SubClassOf 'autosomal dominant disease' 'autosomal dominant keratitis' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0007849 keratitis fugax hereditaria 'keratitis fugax hereditaria' SubClassOf 'genetic disorder' 'keratitis fugax hereditaria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007846 KBG syndrome 'KBG syndrome' SubClassOf 'syndromic intellectual disability' 'KBG syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'KBG syndrome' SubClassOf 'syndromic intellectual disability' 'KBG syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007845 Kaposi sarcoma, susceptibility to 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Kaposi's sarcoma') 'Kaposi sarcoma, susceptibility to' SubClassOf 'predisposes towards' some 'Kaposi's sarcoma' 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Kaposi's sarcoma') 'Kaposi sarcoma, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Kaposi's sarcoma' http://purl.obolibrary.org/obo/MONDO_0007842 joint laxity, familial 'joint laxity, familial' SubClassOf 'Ehlers-Danlos syndrome' 'joint laxity, familial' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007841 coxopodopatellar syndrome 'coxopodopatellar syndrome' SubClassOf 'skeletal dysplasia' 'coxopodopatellar syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007859 palmoplantar keratoderma i, striate, focal, or diffuse 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'hereditary palmoplantar keratoderma' 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007857 keratosis palmaris et plantaris-clinodactyly syndrome 'keratosis palmaris et plantaris-clinodactyly syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'keratosis palmaris et plantaris-clinodactyly syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant 'microangiopathy and leukoencephalopathy, pontine, autosomal dominant' SubClassOf 'cerebrovascular disorder' 'microangiopathy and leukoencephalopathy, pontine, autosomal dominant' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0007856 palmoplantar keratoderma-esophageal carcinoma syndrome 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'syndromic disease' 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'focal palmoplantar keratoderma' 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'syndromic disease' 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007853 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf 'syndromic disease' 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf 'syndromic disease' 'palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007854 keratolytic winter erythema 'keratolytic winter erythema' SubClassOf 'epidermal disease' 'keratolytic winter erythema' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0007851 keratoconus 1 'keratoconus 1' SubClassOf 'keratoconus' 'keratoconus 1' SubClassOf 'keratoconus' http://purl.obolibrary.org/obo/MONDO_0007852 palmoplantar keratoderma-deafness syndrome 'palmoplantar keratoderma-deafness syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'palmoplantar keratoderma-deafness syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0032819 hypothyroidism, congenital, nongoitrous, 7 'hypothyroidism, congenital, nongoitrous, 7' SubClassOf 'central congenital hypothyroidism' 'hypothyroidism, congenital, nongoitrous, 7' SubClassOf 'hypothyroidism, congenital, nongoitrous' 'hypothyroidism, congenital, nongoitrous, 7' SubClassOf 'central congenital hypothyroidism' 'hypothyroidism, congenital, nongoitrous, 7' SubClassOf 'hypothyroidism, congenital, nongoitrous' http://purl.obolibrary.org/obo/MONDO_0032805 hypopigmentation, organomegaly, and delayed myelination and development 'hypopigmentation, organomegaly, and delayed myelination and development' SubClassOf 'genetic disorder' 'hypopigmentation, organomegaly, and delayed myelination and development' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007866 Bart-Pumphrey syndrome 'Bart-Pumphrey syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'Bart-Pumphrey syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007864 angioosteohypertrophic syndrome 'angioosteohypertrophic syndrome' SubClassOf 'overgrowth syndrome' 'angioosteohypertrophic syndrome' SubClassOf 'genetic disorder' 'angioosteohypertrophic syndrome' SubClassOf 'vascular disease' 'angioosteohypertrophic syndrome' SubClassOf 'syndromic disease' 'angioosteohypertrophic syndrome' SubClassOf 'overgrowth syndrome' 'angioosteohypertrophic syndrome' SubClassOf 'genetic disorder' 'angioosteohypertrophic syndrome' SubClassOf 'vascular disease' 'angioosteohypertrophic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007862 Waardenburg syndrome type 3 'Waardenburg syndrome type 3' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 3' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0007860 focal palmoplantar and gingival keratoderma 'focal palmoplantar and gingival keratoderma' SubClassOf 'focal palmoplantar keratoderma' 'focal palmoplantar and gingival keratoderma' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007861 isolated cloverleaf skull syndrome 'isolated cloverleaf skull syndrome' SubClassOf 'isolated craniosynostosis' 'isolated cloverleaf skull syndrome' SubClassOf 'isolated craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0032809 hepatitis, fulminant viral, susceptibility to 'hepatitis, fulminant viral, susceptibility to' SubClassOf 'inherited disease susceptibility' 'hepatitis, fulminant viral, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0056804 benign neoplasm of peripheral nervous system 'benign neoplasm of peripheral nervous system' SubClassOf 'central nervous system organ benign neoplasm' 'benign neoplasm of peripheral nervous system' SubClassOf 'central nervous system organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0032837 abdominal obesity-metabolic syndrome 4 'abdominal obesity-metabolic syndrome 4' SubClassOf 'abdominal obesity-metabolic syndrome' 'abdominal obesity-metabolic syndrome 4' SubClassOf 'abdominal obesity-metabolic syndrome' http://purl.obolibrary.org/obo/MONDO_0056805 benign peripheral nerve granular cell tumor 'benign peripheral nerve granular cell tumor' SubClassOf 'benign granular cell tumor' 'benign peripheral nerve granular cell tumor' SubClassOf 'benign granular cell tumor' http://purl.obolibrary.org/obo/MONDO_0007879 larynx atresia 'larynx atresia' SubClassOf 'otorhinolaryngologic disease' 'larynx atresia' SubClassOf 'laryngeal disease' 'larynx atresia' SubClassOf 'otorhinolaryngologic disease' 'larynx atresia' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0056806 non-small cell squamous lung carcinoma 'non-small cell squamous lung carcinoma' SubClassOf 'squamous cell lung carcinoma' 'non-small cell squamous lung carcinoma' EquivalentTo 'squamous cell lung carcinoma' and 'non-small cell lung carcinoma' 'non-small cell squamous lung carcinoma' SubClassOf 'non-small cell lung carcinoma' 'non-small cell squamous lung carcinoma' SubClassOf 'squamous cell lung carcinoma' 'non-small cell squamous lung carcinoma' EquivalentTo 'squamous cell lung carcinoma' and 'non-small cell lung carcinoma' 'non-small cell squamous lung carcinoma' SubClassOf 'non-small cell lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0007878 congenital laryngomalacia 'congenital laryngomalacia' SubClassOf 'laryngeal disease' 'congenital laryngomalacia' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0007875 Larsen syndrome 'Larsen syndrome' SubClassOf 'filamin-related bone disorder' 'Larsen syndrome' SubClassOf 'developmental defect during embryogenesis' 'Larsen syndrome' SubClassOf 'autosomal dominant disease' 'Larsen syndrome' SubClassOf 'filamin-related bone disorder' 'Larsen syndrome' SubClassOf 'developmental defect during embryogenesis' 'Larsen syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007874 trichorhinophalangeal syndrome type II 'trichorhinophalangeal syndrome type II' SubClassOf 'partial deletion of the long arm of chromosome 8' 'trichorhinophalangeal syndrome type II' SubClassOf 'autosomal dominant disease' 'trichorhinophalangeal syndrome type II' SubClassOf 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome type II' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'trichorhinophalangeal syndrome type II' SubClassOf 'partial deletion of the long arm of chromosome 8' 'trichorhinophalangeal syndrome type II' SubClassOf 'autosomal dominant disease' 'trichorhinophalangeal syndrome type II' SubClassOf 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome type II' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007872 LADD syndrome 'LADD syndrome' SubClassOf 'autosomal dominant disease' 'LADD syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'LADD syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'LADD syndrome' SubClassOf 'autosomal dominant disease' 'LADD syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'LADD syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0056815 liver adenosquamous carcinoma 'liver adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'liver adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://purl.obolibrary.org/obo/MONDO_0056816 vulvar neuroendocrine carcinoma 'vulvar neuroendocrine carcinoma' SubClassOf 'vulvar carcinoma' 'vulvar neuroendocrine carcinoma' SubClassOf 'neuroendocrine carcinoma' 'vulvar neuroendocrine carcinoma' SubClassOf 'vulvar carcinoma' 'vulvar neuroendocrine carcinoma' SubClassOf 'neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0056817 rectal adenosquamous carcinoma 'rectal adenosquamous carcinoma' SubClassOf 'Colorectal Adenosquamous Carcinoma' 'rectal adenosquamous carcinoma' SubClassOf 'Colorectal Adenosquamous Carcinoma' http://purl.obolibrary.org/obo/MONDO_0056818 skin adenosquamous carcinoma 'skin adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'skin adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://purl.obolibrary.org/obo/MONDO_0007888 hereditary leiomyomatosis and renal cell cancer 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'hereditary neoplastic syndrome' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0007885 Legg-Calve-Perthes disease 'Legg-Calve-Perthes disease' SubClassOf 'type 2 collagenopathy' 'Legg-Calve-Perthes disease' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0007883 periodic fever, immunodeficiency, and thrombocytopenia syndrome 'periodic fever, immunodeficiency, and thrombocytopenia syndrome' SubClassOf 'genetic disorder' 'periodic fever, immunodeficiency, and thrombocytopenia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0056819 nasal cavity and paranasal sinus carcinoma 'nasal cavity and paranasal sinus carcinoma' SubClassOf 'head and neck carcinoma' 'nasal cavity and paranasal sinus carcinoma' SubClassOf 'nasal cavity and paranasal sinus neoplasm' 'nasal cavity and paranasal sinus carcinoma' SubClassOf 'head and neck carcinoma' 'nasal cavity and paranasal sinus carcinoma' SubClassOf 'nasal cavity and paranasal sinus neoplasm' http://purl.obolibrary.org/obo/MONDO_0007880 congenital laryngeal web 'congenital laryngeal web' SubClassOf 'syndromic disease' 'congenital laryngeal web' SubClassOf 'laryngeal disease' 'congenital laryngeal web' SubClassOf 'syndromic disease' 'congenital laryngeal web' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0007881 tooth agenesis, selective, 4 'tooth agenesis, selective, 4' SubClassOf 'tooth agenesis' 'tooth agenesis, selective, 4' SubClassOf 'ectodermal dysplasia WNT10A related' 'tooth agenesis, selective, 4' SubClassOf 'tooth agenesis' 'tooth agenesis, selective, 4' SubClassOf 'ectodermal dysplasia WNT10A related' http://purl.obolibrary.org/obo/MONDO_0017207 primary organ-specific lymphoma 'primary organ-specific lymphoma' SubClassOf 'lymphoma' 'primary organ-specific lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0017209 infectious posterior uveitis 'infectious posterior uveitis' SubClassOf 'choroiditis' 'infectious posterior uveitis' SubClassOf 'choroiditis' http://purl.obolibrary.org/obo/MONDO_0017203 chronic endophthalmitis 'chronic endophthalmitis' SubClassOf 'purulent endophthalmitis' 'chronic endophthalmitis' SubClassOf 'purulent endophthalmitis' http://purl.obolibrary.org/obo/MONDO_0017202 acute endophthalmitis 'acute endophthalmitis' SubClassOf 'purulent endophthalmitis' 'acute endophthalmitis' SubClassOf 'purulent endophthalmitis' http://purl.obolibrary.org/obo/MONDO_0032859 spermatogenic failure 40 'spermatogenic failure 40' SubClassOf 'azoospermia' 'spermatogenic failure 40' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0007899 lichen sclerosus et atrophicus 'lichen sclerosus et atrophicus' SubClassOf 'dermatitis' 'lichen sclerosus et atrophicus' SubClassOf 'dermatitis' http://purl.obolibrary.org/obo/MONDO_0007895 platyspondylic dysplasia, Torrance type 'platyspondylic dysplasia, Torrance type' SubClassOf 'spondylodysplastic dysplasia' 'platyspondylic dysplasia, Torrance type' SubClassOf 'type 2 collagenopathy' 'platyspondylic dysplasia, Torrance type' SubClassOf 'spondylodysplastic dysplasia' 'platyspondylic dysplasia, Torrance type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0007893 Noonan syndrome with multiple lentigines 'Noonan syndrome with multiple lentigines' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Noonan syndrome with multiple lentigines' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome with multiple lentigines' SubClassOf 'autosomal dominant disease' 'Noonan syndrome with multiple lentigines' SubClassOf 'syndromic disease' 'Noonan syndrome with multiple lentigines' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Noonan syndrome with multiple lentigines' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome with multiple lentigines' SubClassOf 'autosomal dominant disease' 'Noonan syndrome with multiple lentigines' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007894 Leri pleonosteosis 'Leri pleonosteosis' SubClassOf 'congenital limb malformation' 'Leri pleonosteosis' SubClassOf 'acromelic dysplasia' 'Leri pleonosteosis' SubClassOf 'congenital limb malformation' 'Leri pleonosteosis' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007891 familial generalized lentiginosis 'familial generalized lentiginosis' SubClassOf 'hyperpigmentation of the skin' 'familial generalized lentiginosis' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0007892 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'skeletal dysplasia' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic disease' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'skeletal dysplasia' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic disease' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017219 microform holoprosencephaly 'microform holoprosencephaly' SubClassOf 'holoprosencephaly' 'microform holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and ('disease responds to' some 'cobalamin') 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease responds to' some 'cobalamin' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'cobalamin' 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'cobalamin') http://purl.obolibrary.org/obo/MONDO_0017210 infectious anterior uveitis 'infectious anterior uveitis' SubClassOf 'iridocyclitis' 'infectious anterior uveitis' SubClassOf 'iridocyclitis' http://purl.obolibrary.org/obo/MONDO_0032845 spermatogenic failure 39 'spermatogenic failure 39' SubClassOf 'azoospermia' 'spermatogenic failure 39' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0032843 oculopharyngeal myopathy with leukoencephalopathy 1 'oculopharyngeal myopathy with leukoencephalopathy 1' SubClassOf 'genetic disorder' 'oculopharyngeal myopathy with leukoencephalopathy 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017229 distal monosomy 12p 'distal monosomy 12p' SubClassOf 'chromosome 12p deletion' 'distal monosomy 12p' SubClassOf 'chromosome 12p deletion' http://purl.obolibrary.org/obo/MONDO_0017225 null syndrome 'null syndrome' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' 'null syndrome' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0017226 Pelizaeus-Merzbacher-like disease 'Pelizaeus-Merzbacher-like disease' SubClassOf 'leukodystrophy' 'Pelizaeus-Merzbacher-like disease' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0017221 Pelizaeus-Merzbacher disease, connatal form 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0017222 Pelizaeus-Merzbacher disease, classic form 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0017223 Pelizaeus-Merzbacher disease, transitional form 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0017224 Pelizaeus-Merzbacher disease in female carriers 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0017236 rapidly progressive glomerulonephritis 'rapidly progressive glomerulonephritis' SubClassOf 'glomerulonephritis' 'rapidly progressive glomerulonephritis' SubClassOf 'glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0017237 hereditary sensorimotor neuropathy with hyperelastic skin 'hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'hereditary motor and sensory neuropathy' 'hereditary sensorimotor neuropathy with hyperelastic skin' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0017238 hemoglobinopathy Toms River 'hemoglobinopathy Toms River' SubClassOf 'cyanosis, transient neonatal' 'hemoglobinopathy Toms River' SubClassOf 'anemia' 'hemoglobinopathy Toms River' SubClassOf 'inherited hemoglobinopathy' 'hemoglobinopathy Toms River' SubClassOf 'cyanosis, transient neonatal' 'hemoglobinopathy Toms River' SubClassOf 'anemia' 'hemoglobinopathy Toms River' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 'recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome' SubClassOf 'syndromic disease' 'recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0032874 ciliary dyskinesia, primary, 43 'ciliary dyskinesia, primary, 43' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 43' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0017235 familial omphalocele syndrome with facial dysmorphism 'familial omphalocele syndrome with facial dysmorphism' SubClassOf 'disorder of development or morphogenesis' 'familial omphalocele syndrome with facial dysmorphism' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017230 autosomal semi-dominant severe lipodystrophic laminopathy 'autosomal semi-dominant severe lipodystrophic laminopathy' SubClassOf 'familial partial lipodystrophy' 'autosomal semi-dominant severe lipodystrophic laminopathy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0017231 erythropoietic uroporphyria associated with myeloid malignancy 'erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'inherited porphyria' 'erythropoietic uroporphyria associated with myeloid malignancy' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 'mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' 'mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0032863 spermatogenic failure 41 'spermatogenic failure 41' SubClassOf 'azoospermia' 'spermatogenic failure 41' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0032899 neutropenia, severe congenital, 8, autosomal dominant 'neutropenia, severe congenital, 8, autosomal dominant' SubClassOf 'severe congenital neutropenia' 'neutropenia, severe congenital, 8, autosomal dominant' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0032897 intellectual developmental disorder with hypotonia and behavioral abnormalities 'intellectual developmental disorder with hypotonia and behavioral abnormalities' SubClassOf 'genetic disorder' 'intellectual developmental disorder with hypotonia and behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032898 spermatogenic failure 43 'spermatogenic failure 43' SubClassOf 'azoospermia' 'spermatogenic failure 43' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0017258 idiopathic panuveitis 'idiopathic panuveitis' SubClassOf 'panuveitis' 'idiopathic panuveitis' SubClassOf 'panuveitis' http://purl.obolibrary.org/obo/MONDO_0032895 developmental and epileptic encephalopathy, 83 'developmental and epileptic encephalopathy, 83' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 83' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0032896 spermatogenic failure 42 'spermatogenic failure 42' SubClassOf 'azoospermia' 'spermatogenic failure 42' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0017256 idiopathic anterior uveitis 'idiopathic anterior uveitis' SubClassOf 'anterior uveitis' 'idiopathic anterior uveitis' SubClassOf 'anterior uveitis' http://purl.obolibrary.org/obo/MONDO_0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures 'pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures' SubClassOf 'genetic disorder' 'pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0056820 nasal cavity and paranasal sinus neoplasm 'nasal cavity and paranasal sinus neoplasm' SubClassOf 'head and neck neoplasia' 'nasal cavity and paranasal sinus neoplasm' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0032891 aneurysm, intracranial berry, 12 'aneurysm, intracranial berry, 12' SubClassOf 'intracranial berry aneurysm' 'aneurysm, intracranial berry, 12' SubClassOf 'intracranial berry aneurysm' http://purl.obolibrary.org/obo/MONDO_0032892 structural brain anomalies with impaired intellectual development and craniosynostosis 'structural brain anomalies with impaired intellectual development and craniosynostosis' SubClassOf 'genetic disorder' 'structural brain anomalies with impaired intellectual development and craniosynostosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032890 neuromuscular disease and ocular or auditory anomalies with or without seizures 'neuromuscular disease and ocular or auditory anomalies with or without seizures' SubClassOf 'genetic disorder' 'neuromuscular disease and ocular or auditory anomalies with or without seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032886 Liang-Wang syndrome 'Liang-Wang syndrome' SubClassOf 'genetic disorder' 'Liang-Wang syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017269 X-linked ichthyosis syndrome 'X-linked ichthyosis syndrome' SubClassOf 'syndromic disease' 'X-linked ichthyosis syndrome' SubClassOf 'integumentary system disease' 'X-linked ichthyosis syndrome' SubClassOf 'syndromic disease' 'X-linked ichthyosis syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis 'autosomal recessive congenital ichthyosis' SubClassOf 'inherited ichthyosis' 'autosomal recessive congenital ichthyosis' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0032884 ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies 'ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies' SubClassOf 'genetic disorder' 'ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017266 keratinopathic ichthyosis 'keratinopathic ichthyosis' SubClassOf 'inherited ichthyosis' 'keratinopathic ichthyosis' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type 'spondyloepimetaphyseal dysplasia, Isidor-Toutain type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, Isidor-Toutain type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017267 self-healing collodion baby 'self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' 'self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0032882 Heyn-Sproul-Jackson syndrome 'Heyn-Sproul-Jackson syndrome' SubClassOf 'genetic disorder' 'Heyn-Sproul-Jackson syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017268 acral self-healing collodion baby 'acral self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' 'acral self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0017264 syndromic recessive X-linked ichthyosis 'syndromic recessive X-linked ichthyosis' SubClassOf 'X-linked ichthyosis syndrome' 'syndromic recessive X-linked ichthyosis' SubClassOf 'X-linked ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0017276 frontotemporal dementia 'frontotemporal dementia' SubClassOf 'hereditary dementia' 'frontotemporal dementia' SubClassOf 'inherited neurodegenerative disorder' 'frontotemporal dementia' SubClassOf 'hereditary dementia' 'frontotemporal dementia' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0017278 autoimmune polyendocrinopathy 'autoimmune polyendocrinopathy' SubClassOf 'polyendocrinopathy' 'autoimmune polyendocrinopathy' SubClassOf 'syndromic disease' 'autoimmune polyendocrinopathy' SubClassOf 'autoimmune disorder of endocrine system' 'autoimmune polyendocrinopathy' SubClassOf 'polyendocrinopathy' 'autoimmune polyendocrinopathy' SubClassOf 'syndromic disease' 'autoimmune polyendocrinopathy' SubClassOf 'autoimmune disorder of endocrine system' http://purl.obolibrary.org/obo/MONDO_0017279 young-onset Parkinson disease 'young-onset Parkinson disease' SubClassOf 'Parkinson disease' 'young-onset Parkinson disease' SubClassOf 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0017275 spastic paraplegia-facial-cutaneous lesions syndrome 'spastic paraplegia-facial-cutaneous lesions syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' 'spastic paraplegia-facial-cutaneous lesions syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017290 familial intrahepatic cholestasis 'familial intrahepatic cholestasis' SubClassOf 'liver disease' 'familial intrahepatic cholestasis' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0017292 well-differentiated fetal adenocarcinoma of the lung 'well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'tubular adenocarcinoma' 'well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'lung adenocarcinoma' 'well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'tubular adenocarcinoma' 'well-differentiated fetal adenocarcinoma of the lung' SubClassOf 'lung adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0017287 IgG4-related disease 'IgG4-related disease' SubClassOf 'type II hypersensitivity reaction disease' 'IgG4-related disease' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion 'DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion' SubClassOf 'partial deletion of the short arm of chromosome 10' 'DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion' SubClassOf 'DeSanto-Shinawi syndrome' 'DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion' SubClassOf 'partial deletion of the short arm of chromosome 10' 'DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion' SubClassOf 'DeSanto-Shinawi syndrome' http://purl.obolibrary.org/obo/MONDO_0017284 Xp22.13p22.2 duplication syndrome 'Xp22.13p22.2 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome X' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome X' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017285 penoscrotal transposition 'penoscrotal transposition' SubClassOf 'disorder of development or morphogenesis' 'penoscrotal transposition' SubClassOf 'male reproductive system disease' 'penoscrotal transposition' SubClassOf 'male reproductive system disease' 'penoscrotal transposition' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017294 glycerol kinase deficiency, infantile form 'glycerol kinase deficiency, infantile form' SubClassOf 'disorder of gluconeogenesis' 'glycerol kinase deficiency, infantile form' SubClassOf 'inborn glycerol kinase deficiency' 'glycerol kinase deficiency, infantile form' SubClassOf 'disorder of gluconeogenesis' 'glycerol kinase deficiency, infantile form' SubClassOf 'inborn glycerol kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0017295 glycerol kinase deficiency, juvenile form 'glycerol kinase deficiency, juvenile form' SubClassOf 'disorder of gluconeogenesis' 'glycerol kinase deficiency, juvenile form' SubClassOf 'isolated glycerol kinase deficiency' 'glycerol kinase deficiency, juvenile form' SubClassOf 'disorder of gluconeogenesis' 'glycerol kinase deficiency, juvenile form' SubClassOf 'isolated glycerol kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0017296 glycerol kinase deficiency, adult form 'glycerol kinase deficiency, adult form' SubClassOf 'disorder of gluconeogenesis' 'glycerol kinase deficiency, adult form' SubClassOf 'isolated glycerol kinase deficiency' 'glycerol kinase deficiency, adult form' SubClassOf 'disorder of gluconeogenesis' 'glycerol kinase deficiency, adult form' SubClassOf 'isolated glycerol kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0042233 disseminated candidiasis 'disseminated candidiasis' SubClassOf 'candidiasis' 'disseminated candidiasis' SubClassOf 'candidiasis' http://purl.obolibrary.org/obo/MONDO_0007904 median nodule of the upper lip 'median nodule of the upper lip' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'median nodule of the upper lip' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007902 lichen planus, familial 'lichen planus, familial' SubClassOf 'lichen planus' 'lichen planus, familial' SubClassOf 'lichen planus' http://purl.obolibrary.org/obo/MONDO_0007900 nonsyndromic congenital nail disorder 3 'nonsyndromic congenital nail disorder 3' SubClassOf 'inherited isolated nail anomaly' 'nonsyndromic congenital nail disorder 3' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0007909 familial multiple lipomatosis 'familial multiple lipomatosis' SubClassOf 'integumentary system benign neoplasm' 'familial multiple lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'familial multiple lipomatosis' SubClassOf 'lipoma' 'familial multiple lipomatosis' SubClassOf 'integumentary system benign neoplasm' 'familial multiple lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'familial multiple lipomatosis' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0007906 familial partial lipodystrophy, Dunnigan type 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'disorder of development or morphogenesis' 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'familial partial lipodystrophy' 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'disorder of development or morphogenesis' 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0007706 cavernous hemangiomas of face-supraumbilical midline raphe syndrome 'cavernous hemangiomas of face-supraumbilical midline raphe syndrome' SubClassOf 'genetic disorder' 'cavernous hemangiomas of face-supraumbilical midline raphe syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007704 osteoarthritis susceptibility 2 'osteoarthritis susceptibility 2' SubClassOf 'predisposes towards' some 'osteoarthritis' 'osteoarthritis susceptibility 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'osteoarthritis' http://purl.obolibrary.org/obo/MONDO_0007702 heart-hand syndrome type 3 'heart-hand syndrome type 3' SubClassOf 'Holt-Oram syndrome' 'heart-hand syndrome type 3' SubClassOf 'Holt-Oram syndrome' http://purl.obolibrary.org/obo/MONDO_0007700 hawkinsinuria 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0007716 alpha thalassemia-intellectual disability syndrome type 1 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'syndromic disease' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'partial deletion of the short arm of chromosome 16' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'hematologic disease' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'syndromic disease' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'partial deletion of the short arm of chromosome 16' 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0007712 oculoauriculovertebral spectrum with radial defects 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'dysostosis' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'genetic disorder' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'dysostosis' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007711 Bencze syndrome 'Bencze syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Bencze syndrome' SubClassOf 'syndromic disease' 'Bencze syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Bencze syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007727 autosomal dominant familial periodic fever 'autosomal dominant familial periodic fever' SubClassOf 'immune system disease' 'autosomal dominant familial periodic fever' SubClassOf 'hereditary periodic fever syndrome' 'autosomal dominant familial periodic fever' SubClassOf 'immune system disease' 'autosomal dominant familial periodic fever' SubClassOf 'hereditary periodic fever syndrome' http://purl.obolibrary.org/obo/MONDO_0007728 acne inversa, familial, 1 'acne inversa, familial, 1' SubClassOf 'familial acne inversa' 'acne inversa, familial, 1' SubClassOf 'familial acne inversa' http://purl.obolibrary.org/obo/MONDO_0007726 hip dysplasia, Beukes type 'hip dysplasia, Beukes type' SubClassOf 'spondyloepiphyseal dysplasia' 'hip dysplasia, Beukes type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome 'hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hirsutism-skeletal dysplasia-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007738 spondyloepiphyseal dysplasia with congenital joint dislocations 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'mineral metabolism disease' 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'mineral metabolism disease' 'spondyloepiphyseal dysplasia with congenital joint dislocations' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007739 Huntington disease 'Huntington disease' SubClassOf 'Huntington disease and related disorders' 'Huntington disease' SubClassOf 'Huntington disease and related disorders' http://purl.obolibrary.org/obo/MONDO_0007737 humeroradial synostosis 'humeroradial synostosis' SubClassOf 'genetic disorder' 'humeroradial synostosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007735 congenital Horner syndrome 'congenital Horner syndrome' SubClassOf 'Horner syndrome' 'congenital Horner syndrome' SubClassOf 'Horner syndrome' http://purl.obolibrary.org/obo/MONDO_0007732 Holt-Oram syndrome 'Holt-Oram syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holt-Oram syndrome' SubClassOf 'heart-hand syndrome' 'Holt-Oram syndrome' SubClassOf 'autosomal dominant disease' 'Holt-Oram syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Holt-Oram syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holt-Oram syndrome' SubClassOf 'heart-hand syndrome' 'Holt-Oram syndrome' SubClassOf 'autosomal dominant disease' 'Holt-Oram syndrome' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0007733 holoprosencephaly 3 'holoprosencephaly 3' SubClassOf 'holoprosencephaly' 'holoprosencephaly 3' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0007747 isolated hyperchlorhidrosis 'isolated hyperchlorhidrosis' SubClassOf 'hereditary epidermal appendage anomaly' 'isolated hyperchlorhidrosis' SubClassOf 'hereditary epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0007744 cholesterol-ester transfer protein deficiency 'cholesterol-ester transfer protein deficiency' SubClassOf 'hyperalphalipoproteinemia' 'cholesterol-ester transfer protein deficiency' SubClassOf 'hyperalphalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0007741 congenital hydronephrosis 'congenital hydronephrosis' SubClassOf 'hydronephrosis' 'congenital hydronephrosis' SubClassOf 'hydronephrosis' http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease 'Wagner disease' SubClassOf 'vitreoretinal degeneration' 'Wagner disease' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0007758 epidermolytic palmoplantar keratoderma, 1 'epidermolytic palmoplantar keratoderma, 1' SubClassOf 'palmoplantar keratoderma, epidermolytic' 'epidermolytic palmoplantar keratoderma, 1' SubClassOf 'diffuse palmoplantar keratoderma' 'epidermolytic palmoplantar keratoderma, 1' SubClassOf 'palmoplantar keratoderma, epidermolytic' 'epidermolytic palmoplantar keratoderma, 1' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 'facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome' SubClassOf 'genetic disorder' 'facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007756 hyperkeratosis lenticularis perstans 'hyperkeratosis lenticularis perstans' SubClassOf 'epidermal disease' 'hyperkeratosis lenticularis perstans' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0007757 hyperkeratosis-hyperpigmentation syndrome 'hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'hyperpigmentation of the skin' 'hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 'hypercholesterolemia, familial, 1' SubClassOf 'familial hypercholesterolemia' 'hypercholesterolemia, familial, 1' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0007751 hypercholesterolemia, autosomal dominant, type B 'hypercholesterolemia, autosomal dominant, type B' SubClassOf 'familial hypercholesterolemia' 'hypercholesterolemia, autosomal dominant, type B' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 'neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination' SubClassOf 'leukodystrophy' 'neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination' SubClassOf 'disorder of folate metabolism and transport' 'neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination' SubClassOf 'leukodystrophy' 'neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination' SubClassOf 'disorder of folate metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 'short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis' SubClassOf 'skeletal system disease' 'short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis' SubClassOf 'genetic disorder' 'short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis' SubClassOf 'skeletal system disease' 'short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007768 hyperparathyroidism 2 with jaw tumors 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'hereditary neoplastic syndrome' 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'abnormal mineralization disorder' 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'familial primary hyperparathyroidism' 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'hereditary neoplastic syndrome' 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'abnormal mineralization disorder' 'hyperparathyroidism 2 with jaw tumors' SubClassOf 'familial primary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0007765 hyperostosis cranialis interna 'hyperostosis cranialis interna' SubClassOf 'genetic disorder' 'hyperostosis cranialis interna' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007766 Morgagni-Stewart-Morel syndrome 'Morgagni-Stewart-Morel syndrome' SubClassOf 'disorder of development or morphogenesis' 'Morgagni-Stewart-Morel syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007763 nonpapillary renal cell carcinoma 'nonpapillary renal cell carcinoma' SubClassOf 'renal cell carcinoma' 'nonpapillary renal cell carcinoma' SubClassOf 'renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0007764 autosomal dominant osteosclerosis, Worth type 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'skeletal dysplasia' 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007762 hyperlipoproteinemia type V 'hyperlipoproteinemia type V' SubClassOf 'familial hyperlipidemia' 'hyperlipoproteinemia type V' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0032707 turnpenny-fry syndrome 'turnpenny-fry syndrome' SubClassOf 'genetic disorder' 'turnpenny-fry syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 'gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy' SubClassOf 'genetic disorder' 'gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032737 spastic paraplegia 80, autosomal dominant 'spastic paraplegia 80, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 80, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0007776 hypersensitivity pneumonitis, familial 'hypersensitivity pneumonitis, familial' SubClassOf 'hypersensitivity pneumonitis' 'hypersensitivity pneumonitis, familial' SubClassOf 'hypersensitivity pneumonitis' http://purl.obolibrary.org/obo/MONDO_0007772 pseudohypoaldosteronism type 2A 'pseudohypoaldosteronism type 2A' SubClassOf 'pseudohypoaldosteronism type 2' 'pseudohypoaldosteronism type 2A' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0007771 hyperpigmentation with or without hypopigmentation, familial progressive 'hyperpigmentation with or without hypopigmentation, familial progressive' SubClassOf 'familial progressive hyperpigmentation' 'hyperpigmentation with or without hypopigmentation, familial progressive' SubClassOf 'familial progressive hyperpigmentation' http://purl.obolibrary.org/obo/MONDO_0032728 Charcot-Marie-Tooth disease, axonal, type 2EE 'Charcot-Marie-Tooth disease, axonal, type 2EE' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease, axonal, type 2EE' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0007787 Ambras type hypertrichosis universalis congenita 'Ambras type hypertrichosis universalis congenita' SubClassOf 'hypertrichosis lanuginosa congenita' 'Ambras type hypertrichosis universalis congenita' SubClassOf 'hypertrichosis lanuginosa congenita' http://purl.obolibrary.org/obo/MONDO_0007784 selective pituitary resistance to thyroid hormone 'selective pituitary resistance to thyroid hormone' SubClassOf 'hyperthyroidism' 'selective pituitary resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' 'selective pituitary resistance to thyroid hormone' SubClassOf 'hyperthyroidism' 'selective pituitary resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' http://purl.obolibrary.org/obo/MONDO_0017100 neutropenia-monocytopenia-deafness syndrome 'neutropenia-monocytopenia-deafness syndrome' SubClassOf 'constitutional neutropenia' 'neutropenia-monocytopenia-deafness syndrome' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0017101 isolated focal cortical dysplasia type IIa 'isolated focal cortical dysplasia type IIa' SubClassOf 'isolated focal cortical dysplasia type II' 'isolated focal cortical dysplasia type IIa' SubClassOf 'isolated focal cortical dysplasia type II' http://purl.obolibrary.org/obo/MONDO_0017102 isolated focal cortical dysplasia type IIb 'isolated focal cortical dysplasia type IIb' SubClassOf 'isolated focal cortical dysplasia type II' 'isolated focal cortical dysplasia type IIb' SubClassOf 'isolated focal cortical dysplasia type II' http://purl.obolibrary.org/obo/MONDO_0017103 encephaloclastic disorder 'encephaloclastic disorder' SubClassOf 'brain disease' 'encephaloclastic disorder' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 'neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia' SubClassOf 'genetic disorder' 'neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007796 hypoparathyroidism, familial isolated 1 'hypoparathyroidism, familial isolated 1' SubClassOf 'familial hypoparathyroidism' 'hypoparathyroidism, familial isolated 1' SubClassOf 'familial hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0007797 hypoparathyroidism-deafness-renal disease syndrome 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'partial deletion of the short arm of chromosome 10' 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'syndromic disease' 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'partial deletion of the short arm of chromosome 10' 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007795 mullerian duct anomalies-limb anomalies syndrome 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'syndromic disease' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'reproductive system disease' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'syndromic disease' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0007792 familial hypocalciuric hypercalcemia 2 'familial hypocalciuric hypercalcemia 2' SubClassOf 'familial hypocalciuric hypercalcemia' 'familial hypocalciuric hypercalcemia 2' SubClassOf 'familial hypocalciuric hypercalcemia' http://purl.obolibrary.org/obo/MONDO_0007793 hypochondroplasia 'hypochondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'hypochondroplasia' SubClassOf 'osteochondrodysplasia' 'hypochondroplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'hypochondroplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007790 Charcot-Marie-Tooth disease type 3 'Charcot-Marie-Tooth disease type 3' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type 3' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0007791 familial hypocalciuric hypercalcemia 1 'familial hypocalciuric hypercalcemia 1' SubClassOf 'abnormal mineralization disorder' 'familial hypocalciuric hypercalcemia 1' SubClassOf 'familial hypocalciuric hypercalcemia' 'familial hypocalciuric hypercalcemia 1' SubClassOf 'abnormal mineralization disorder' 'familial hypocalciuric hypercalcemia 1' SubClassOf 'familial hypocalciuric hypercalcemia' http://purl.obolibrary.org/obo/MONDO_0017116 congenital communicating hydrocephalus 'congenital communicating hydrocephalus' SubClassOf 'congenital hydrocephalus' 'congenital communicating hydrocephalus' SubClassOf 'congenital hydrocephalus' http://purl.obolibrary.org/obo/MONDO_0017117 congenital non-communicating hydrocephalus 'congenital non-communicating hydrocephalus' SubClassOf 'congenital hydrocephalus' 'congenital non-communicating hydrocephalus' SubClassOf 'congenital hydrocephalus' http://purl.obolibrary.org/obo/MONDO_0017111 isolated Dandy-Walker malformation without hydrocephalus 'isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'Dandy-Walker syndrome' 'isolated Dandy-Walker malformation without hydrocephalus' SubClassOf 'Dandy-Walker syndrome' http://purl.obolibrary.org/obo/MONDO_0017112 isolated unilateral hemispheric cerebellar hypoplasia 'isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'central nervous system malformation' 'isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0032751 arthrogryposis, distal, type 2B3 'arthrogryposis, distal, type 2B3' SubClassOf 'Sheldon-hall syndrome' 'arthrogryposis, distal, type 2B3' SubClassOf 'autosomal dominant disease' 'arthrogryposis, distal, type 2B3' SubClassOf 'Sheldon-hall syndrome' 'arthrogryposis, distal, type 2B3' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0017110 isolated Dandy-Walker malformation with hydrocephalus 'isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'Dandy-Walker syndrome' 'isolated Dandy-Walker malformation with hydrocephalus' SubClassOf 'Dandy-Walker syndrome' http://purl.obolibrary.org/obo/MONDO_0032745 developmental delay with variable intellectual impairment and behavioral abnormalities 'developmental delay with variable intellectual impairment and behavioral abnormalities' SubClassOf 'genetic disorder' 'developmental delay with variable intellectual impairment and behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017126 oculo-skeletal-renal syndrome 'oculo-skeletal-renal syndrome' SubClassOf 'syndromic disease' 'oculo-skeletal-renal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'inborn disorder of bilirubin metabolism' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'syndromic disease' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'inborn disorder of bilirubin metabolism' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0032778 arthrogryposis multiplex congenita 3, myogenic type 'arthrogryposis multiplex congenita 3, myogenic type' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita 3, myogenic type' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0017138 Opitz G/BBB syndrome 'Opitz G/BBB syndrome' SubClassOf 'syndromic disease' 'Opitz G/BBB syndrome' SubClassOf 'telecanthus' 'Opitz G/BBB syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Opitz G/BBB syndrome' SubClassOf 'syndromic disease' 'Opitz G/BBB syndrome' SubClassOf 'telecanthus' 'Opitz G/BBB syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017139 oromandibular-limb hypogenesis syndrome 'oromandibular-limb hypogenesis syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' 'oromandibular-limb hypogenesis syndrome' SubClassOf 'genetic disorder' 'oromandibular-limb hypogenesis syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' 'oromandibular-limb hypogenesis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032774 cerebellar, ocular, craniofacial, and genital syndrome 'cerebellar, ocular, craniofacial, and genital syndrome' SubClassOf 'genetic disorder' 'cerebellar, ocular, craniofacial, and genital syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017134 odonto-onycho dysplasia-alopecia syndrome 'odonto-onycho dysplasia-alopecia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'odonto-onycho dysplasia-alopecia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0017135 olivopontocerebellar atrophy-deafness syndrome 'olivopontocerebellar atrophy-deafness syndrome' SubClassOf 'syndromic disease' 'olivopontocerebellar atrophy-deafness syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017136 omodysplasia 'omodysplasia' SubClassOf 'skeletal dysplasia' 'omodysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0032766 hypoalphalipoproteinemia, primary, 2 'hypoalphalipoproteinemia, primary, 2' SubClassOf 'genetic disorder' 'hypoalphalipoproteinemia, primary, 2' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032763 immunodeficiency 62 'immunodeficiency 62' SubClassOf 'immunodeficiency disease' 'immunodeficiency 62' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0017145 beta-thalassemia and related diseases 'beta-thalassemia and related diseases' SubClassOf 'inherited hemoglobinopathy' 'beta-thalassemia and related diseases' SubClassOf 'anemia' 'beta-thalassemia and related diseases' SubClassOf 'inherited hemoglobinopathy' 'beta-thalassemia and related diseases' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0032764 Khan-Khan-Katsanis syndrome 'Khan-Khan-Katsanis syndrome' SubClassOf 'genetic disorder' 'Khan-Khan-Katsanis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017147 idiopathic pulmonary arterial hypertension 'idiopathic pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'idiopathic pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0017140 L1 syndrome 'L1 syndrome' SubClassOf 'disorder of development or morphogenesis' 'L1 syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0032760 developmental delay with or without dysmorphic facies and autism 'developmental delay with or without dysmorphic facies and autism' SubClassOf 'genetic disorder' 'developmental delay with or without dysmorphic facies and autism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017160 behavioral variant of frontotemporal dementia 'behavioral variant of frontotemporal dementia' SubClassOf 'frontotemporal dementia' 'behavioral variant of frontotemporal dementia' SubClassOf 'frontotemporal dementia' http://purl.obolibrary.org/obo/MONDO_0017161 frontotemporal dementia with motor neuron disease 'frontotemporal dementia with motor neuron disease' SubClassOf 'hereditary dementia' 'frontotemporal dementia with motor neuron disease' SubClassOf 'inherited neurodegenerative disorder' 'frontotemporal dementia with motor neuron disease' SubClassOf 'hereditary dementia' 'frontotemporal dementia with motor neuron disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features 'ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features' SubClassOf 'genetic disorder' 'ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) 'mitochondrial DNA depletion syndrome 16 (hepatic type)' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 16 (hepatic type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0032795 intellectual developmental disorder 59 'intellectual developmental disorder 59' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual developmental disorder 59' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017171 mucopolysaccharidosis type 6, rapidly progressing 'mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'mucopolysaccharidosis type 6' 'mucopolysaccharidosis type 6, rapidly progressing' SubClassOf 'mucopolysaccharidosis type 6' http://purl.obolibrary.org/obo/MONDO_0017172 mucopolysaccharidosis type 6, slowly progressing 'mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'mucopolysaccharidosis type 6' 'mucopolysaccharidosis type 6, slowly progressing' SubClassOf 'mucopolysaccharidosis type 6' http://purl.obolibrary.org/obo/MONDO_0032787 holoprosencephaly 12 with or without pancreatic agenesis 'holoprosencephaly 12 with or without pancreatic agenesis' SubClassOf 'holoprosencephaly' 'holoprosencephaly 12 with or without pancreatic agenesis' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0017167 malignant epithelial tumor of salivary glands 'malignant epithelial tumor of salivary glands' SubClassOf 'head and neck neoplasia' 'malignant epithelial tumor of salivary glands' SubClassOf 'digestive system neoplasm' 'malignant epithelial tumor of salivary glands' SubClassOf 'head and neck neoplasia' 'malignant epithelial tumor of salivary glands' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0017169 multiple endocrine neoplasia 'multiple endocrine neoplasia' SubClassOf 'hereditary neoplastic syndrome' 'multiple endocrine neoplasia' SubClassOf 'neurocristopathy' 'multiple endocrine neoplasia' SubClassOf 'multiple polyglandular tumor' 'multiple endocrine neoplasia' SubClassOf 'hereditary neoplastic syndrome' 'multiple endocrine neoplasia' SubClassOf 'neurocristopathy' 'multiple endocrine neoplasia' SubClassOf 'multiple polyglandular tumor' http://purl.obolibrary.org/obo/MONDO_0017162 imperforate oropharynx-costo vetebral anomalies syndrome 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'genetic disorder' 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'dysostosis' 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'syndromic disease' 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'genetic disorder' 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'dysostosis' 'imperforate oropharynx-costo vetebral anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 'congenital hypotonia, epilepsy, developmental delay, and digital anomalies' SubClassOf 'genetic disorder' 'congenital hypotonia, epilepsy, developmental delay, and digital anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017165 bile acid CoA ligase deficiency and defective amidation 'bile acid CoA ligase deficiency and defective amidation' SubClassOf 'inborn disorder of bile acid synthesis' 'bile acid CoA ligase deficiency and defective amidation' SubClassOf 'inborn disorder of bile acid synthesis' http://purl.obolibrary.org/obo/MONDO_0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 'hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities' SubClassOf 'genetic disorder' 'hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017180 10q22.3q23.3 microduplication syndrome '10q22.3q23.3 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 10' '10q22.3q23.3 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0017181 hypnic headache 'hypnic headache' SubClassOf 'headache disorder' 'hypnic headache' SubClassOf 'headache disorder' http://purl.obolibrary.org/obo/MONDO_0017182 familial hyperinsulinism 'familial hyperinsulinism' SubClassOf 'hyperinsulinemic hypoglycemia' 'familial hyperinsulinism' SubClassOf 'hyperinsulinemic hypoglycemia' http://purl.obolibrary.org/obo/MONDO_0017183 hyperinsulinism due to UCP2 deficiency 'hyperinsulinism due to UCP2 deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'hyperinsulinism due to UCP2 deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017177 hemihyperplasia-multiple lipomatosis syndrome 'hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'overgrowth syndrome' 'hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0017178 osteochondritis dissecans 'osteochondritis dissecans' SubClassOf 'osteonecrosis of genetic origin' 'osteochondritis dissecans' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0017174 Machado-Joseph disease type 1 'Machado-Joseph disease type 1' SubClassOf 'Machado-Joseph disease' 'Machado-Joseph disease type 1' SubClassOf 'Machado-Joseph disease' http://purl.obolibrary.org/obo/MONDO_0017175 Machado-Joseph disease type 2 'Machado-Joseph disease type 2' SubClassOf 'Machado-Joseph disease' 'Machado-Joseph disease type 2' SubClassOf 'Machado-Joseph disease' http://purl.obolibrary.org/obo/MONDO_0017176 Machado-Joseph disease type 3 'Machado-Joseph disease type 3' SubClassOf 'Machado-Joseph disease' 'Machado-Joseph disease type 3' SubClassOf 'Machado-Joseph disease' http://purl.obolibrary.org/obo/MONDO_0017193 symptomatic form of Coffin-Lowry syndrome in female carriers 'symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0017194 Blount disease 'Blount disease' SubClassOf 'bent bone dysplasia' 'Blount disease' SubClassOf 'osteochondrodysplasia' 'Blount disease' SubClassOf 'bent bone dysplasia' 'Blount disease' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0017188 diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 'diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'diazoxide-resistant focal hyperinsulinism' 'diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'diazoxide-resistant focal hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017189 adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia 'adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'familial hyperinsulinism' 'adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia' SubClassOf 'familial hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017184 autosomal dominant hyperinsulinism due to SUR1 deficiency 'autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'autosomal dominant hyperinsulinism due to SUR1 deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017185 autosomal dominant hyperinsulinism due to Kir6.2 deficiency 'autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'autosomal dominant hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017186 diazoxide-resistant hyperinsulinism 'diazoxide-resistant hyperinsulinism' SubClassOf 'congenital isolated hyperinsulinism' 'diazoxide-resistant hyperinsulinism' SubClassOf 'congenital isolated hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017187 diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 'diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'diazoxide-resistant focal hyperinsulinism' 'diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency' SubClassOf 'diazoxide-resistant focal hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017199 osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome 'osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome' SubClassOf 'syndromic disease' 'osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017195 Bruck syndrome 'Bruck syndrome' SubClassOf 'syndromic disease' 'Bruck syndrome' SubClassOf 'skeletal dysplasia' 'Bruck syndrome' SubClassOf 'syndromic disease' 'Bruck syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'retinopathy' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'developmental disability' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'retinopathy' 'osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome' SubClassOf 'developmental disability' http://purl.obolibrary.org/obo/MONDO_0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome 'osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf 'hyperpigmentation of the skin' 'osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0017198 osteopetrosis 'osteopetrosis' SubClassOf 'skeletal dysplasia' 'osteopetrosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007606 fibrodysplasia ossificans progressiva 'fibrodysplasia ossificans progressiva' SubClassOf 'subcutaneous tissue disorder' 'fibrodysplasia ossificans progressiva' SubClassOf 'genetic disorder' 'fibrodysplasia ossificans progressiva' SubClassOf 'skeletal system disease' 'fibrodysplasia ossificans progressiva' SubClassOf 'subcutaneous tissue disorder' 'fibrodysplasia ossificans progressiva' SubClassOf 'genetic disorder' 'fibrodysplasia ossificans progressiva' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0007604 femoral-facial syndrome 'femoral-facial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'femoral-facial syndrome' SubClassOf 'non-syndromic limb reduction defect' 'femoral-facial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'femoral-facial syndrome' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0007600 primary Fanconi syndrome 'primary Fanconi syndrome' SubClassOf 'inherited Fanconi renotubular syndrome' 'primary Fanconi syndrome' SubClassOf 'inherited Fanconi renotubular syndrome' http://purl.obolibrary.org/obo/MONDO_0007615 laurin-Sandrow syndrome 'laurin-Sandrow syndrome' SubClassOf 'congenital limb malformation' 'laurin-Sandrow syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'laurin-Sandrow syndrome' SubClassOf 'congenital limb malformation' 'laurin-Sandrow syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' http://purl.obolibrary.org/obo/MONDO_0007614 congenital fibrosis of extraocular muscles 'congenital fibrosis of extraocular muscles' SubClassOf 'ocular motility disease' 'congenital fibrosis of extraocular muscles' SubClassOf 'progressive muscular dystrophy' 'congenital fibrosis of extraocular muscles' SubClassOf 'ocular motility disease' 'congenital fibrosis of extraocular muscles' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0007612 gingival fibromatosis-progressive deafness syndrome 'gingival fibromatosis-progressive deafness syndrome' SubClassOf 'disorder of development or morphogenesis' 'gingival fibromatosis-progressive deafness syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007610 gingival fibromatosis-hypertrichosis syndrome 'gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'hypertrichosis' 'gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'hypertrichosis' 'gingival fibromatosis-hypertrichosis syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_0003900 ciliopathy 'ciliopathy' SubClassOf 'genetic disorder' 'ciliopathy' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0003902 spinal fracture 'spinal fracture' SubClassOf 'bone fracture' 'spinal fracture' SubClassOf 'bone fracture' http://purl.obolibrary.org/obo/MONDO_0007619 isolated congenital adermatoglyphia 'isolated congenital adermatoglyphia' SubClassOf 'autosomal dominant disease' 'isolated congenital adermatoglyphia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007628 foveal hypoplasia 1 'foveal hypoplasia 1' SubClassOf 'foveal hypoplasia' 'foveal hypoplasia 1' SubClassOf 'PAX6-related ocular dysgenesis' 'foveal hypoplasia 1' SubClassOf 'foveal hypoplasia' 'foveal hypoplasia 1' SubClassOf 'PAX6-related ocular dysgenesis' http://purl.obolibrary.org/obo/MONDO_0007626 familial congenital palsy of trochlear nerve 'familial congenital palsy of trochlear nerve' SubClassOf 'nuclear oculomotor paralysis' 'familial congenital palsy of trochlear nerve' SubClassOf 'nuclear oculomotor paralysis' http://purl.obolibrary.org/obo/MONDO_0007627 focal facial dermal dysplasia type I 'focal facial dermal dysplasia type I' SubClassOf 'focal facial dermal dysplasia' 'focal facial dermal dysplasia type I' SubClassOf 'focal facial dermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007624 Flynn-Aird syndrome 'Flynn-Aird syndrome' SubClassOf 'premature aging syndrome' 'Flynn-Aird syndrome' SubClassOf 'autosomal dominant disease' 'Flynn-Aird syndrome' SubClassOf 'premature aging syndrome' 'Flynn-Aird syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007620 fish eye disease 'fish eye disease' SubClassOf 'LCAT deficiency' 'fish eye disease' SubClassOf 'LCAT deficiency' http://purl.obolibrary.org/obo/MONDO_0007621 Floating-Harbor syndrome 'Floating-Harbor syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Floating-Harbor syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus 'fundus albipunctatus' SubClassOf 'RDH5-related retinopathy' 'fundus albipunctatus' SubClassOf 'RLBP1-related retinopathy' 'fundus albipunctatus' SubClassOf 'familial flecked retinopathy' 'fundus albipunctatus' SubClassOf 'RDH5-related retinopathy' 'fundus albipunctatus' SubClassOf 'RLBP1-related retinopathy' 'fundus albipunctatus' SubClassOf 'familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome 'Frasier syndrome' SubClassOf 'autosomal dominant disease' 'Frasier syndrome' SubClassOf 'syndromic disease' 'Frasier syndrome' SubClassOf 'autosomal dominant disease' 'Frasier syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007636 frontorhiny 'frontorhiny' SubClassOf 'frontonasal dysplasia' 'frontorhiny' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007634 intellectual disability, FRA12A type 'intellectual disability, FRA12A type' SubClassOf 'genetic disorder' 'intellectual disability, FRA12A type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007631 chromosome 16p12.1 deletion syndrome, 520kb 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'syndromic disease' 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'partial deletion of the short arm of chromosome 16' 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'syndromic disease' 'chromosome 16p12.1 deletion syndrome, 520kb' SubClassOf 'partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0007630 North Carolina macular dystrophy 'North Carolina macular dystrophy' SubClassOf 'macular dystrophy, retinal' 'North Carolina macular dystrophy' SubClassOf 'macular dystrophy, retinal' http://www.ebi.ac.uk/efo/EFO_0003921 pouchitis 'pouchitis' SubClassOf 'disease has location' some 'ileum' 'pouchitis' SubClassOf 'disease has location' some 'ileum' http://www.ebi.ac.uk/efo/EFO_0003929 relapsing-remitting multiple sclerosis 'relapsing-remitting multiple sclerosis' SubClassOf 'multiple sclerosis' 'relapsing-remitting multiple sclerosis' SubClassOf 'multiple sclerosis' http://www.ebi.ac.uk/efo/EFO_0003928 necrotizing enterocolitis 'necrotizing enterocolitis' SubClassOf 'intestinal disease' 'necrotizing enterocolitis' SubClassOf 'enterocolitis' 'necrotizing enterocolitis' SubClassOf 'intestinal disease' 'necrotizing enterocolitis' SubClassOf 'enterocolitis' http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'hereditary gastric cancer' 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'diffuse gastric adenocarcinoma' 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'hereditary gastric cancer' 'hereditary diffuse gastric adenocarcinoma' SubClassOf 'diffuse gastric adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0007646 Gamstorp-Wohlfart syndrome 'Gamstorp-Wohlfart syndrome' SubClassOf 'syndromic disease' 'Gamstorp-Wohlfart syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007644 IgAD1 'IgAD1' SubClassOf 'selective IgA deficiency disease' 'IgAD1' SubClassOf 'selective IgA deficiency disease' http://purl.obolibrary.org/obo/MONDO_0007642 isolated agenesis of gallbladder 'isolated agenesis of gallbladder' SubClassOf 'biliary tract disease' 'isolated agenesis of gallbladder' SubClassOf 'biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0007640 Sorsby fundus dystrophy 'Sorsby fundus dystrophy' SubClassOf 'inherited retinal dystrophy' 'Sorsby fundus dystrophy' SubClassOf 'inherited retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_0003911 atrial flutter 'atrial flutter' SubClassOf 'atrial tachycardia' 'atrial flutter' SubClassOf 'disease has location' some 'cardiac atrium' 'atrial flutter' SubClassOf 'atrial tachycardia' 'atrial flutter' SubClassOf 'disease has location' some 'cardiac atrium' http://www.ebi.ac.uk/efo/EFO_0003914 atherosclerosis 'atherosclerosis' SubClassOf 'arteriosclerosis disorder' 'atherosclerosis' SubClassOf 'arteriosclerosis disorder' http://www.ebi.ac.uk/efo/EFO_0003918 obstructive sleep apnea 'obstructive sleep apnea' SubClassOf 'syndromic disease' 'obstructive sleep apnea' SubClassOf 'sleep apnea' 'obstructive sleep apnea' SubClassOf 'syndromic disease' 'obstructive sleep apnea' SubClassOf 'sleep apnea' http://purl.obolibrary.org/obo/MONDO_0007656 Gerstmann-Straussler-Scheinker syndrome 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'prion disease' 'Gerstmann-Straussler-Scheinker syndrome' SubClassOf 'prion disease' http://purl.obolibrary.org/obo/MONDO_0007653 genochondromatosis 'genochondromatosis' SubClassOf 'skeletal dysplasia' 'genochondromatosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007651 gastrocutaneous syndrome 'gastrocutaneous syndrome' SubClassOf 'hyperpigmentation of the skin' 'gastrocutaneous syndrome' SubClassOf 'hyperpigmentation of the skin' http://www.ebi.ac.uk/efo/EFO_0003943 humerus fracture 'humerus fracture' SubClassOf 'disease has location' some 'humerus' 'humerus fracture' SubClassOf 'bone fracture' 'humerus fracture' SubClassOf 'disease has location' some 'humerus' 'humerus fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0003944 tibia fracture 'tibia fracture' SubClassOf 'bone fracture' 'tibia fracture' SubClassOf 'disease has location' some 'tibia' 'tibia fracture' SubClassOf 'bone fracture' 'tibia fracture' SubClassOf 'disease has location' some 'tibia' http://www.ebi.ac.uk/efo/EFO_0003948 gastroesophageal reflux disease 'gastroesophageal reflux disease' SubClassOf 'genetic disorder' 'gastroesophageal reflux disease' SubClassOf 'esophageal disease' 'gastroesophageal reflux disease' SubClassOf 'genetic disorder' 'gastroesophageal reflux disease' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0032610 mitochondrial complex 1 deficiency, nuclear type 5 'mitochondrial complex 1 deficiency, nuclear type 5' SubClassOf 'mitochondrial complex I deficiency, nuclear type' 'mitochondrial complex 1 deficiency, nuclear type 5' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0032607 vertebral anomalies and variable endocrine and T-cell dysfunction 'vertebral anomalies and variable endocrine and T-cell dysfunction' SubClassOf 'genetic disorder' 'vertebral anomalies and variable endocrine and T-cell dysfunction' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007669 renal cysts and diabetes syndrome 'renal cysts and diabetes syndrome' SubClassOf 'maturity-onset diabetes of the young' 'renal cysts and diabetes syndrome' SubClassOf 'syndromic disease' 'renal cysts and diabetes syndrome' SubClassOf 'maturity-onset diabetes of the young' 'renal cysts and diabetes syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007666 glaucoma-sleep apnea syndrome 'glaucoma-sleep apnea syndrome' SubClassOf 'syndromic disease' 'glaucoma-sleep apnea syndrome' SubClassOf 'eye disease' 'glaucoma-sleep apnea syndrome' SubClassOf 'syndromic disease' 'glaucoma-sleep apnea syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007664 glaucoma 1, open angle, A 'glaucoma 1, open angle, A' SubClassOf 'juvenile open angle glaucoma' 'glaucoma 1, open angle, A' SubClassOf 'juvenile open angle glaucoma' http://purl.obolibrary.org/obo/MONDO_0007662 anterior segment dysgenesis 4 'anterior segment dysgenesis 4' SubClassOf 'Rieger anomaly' 'anterior segment dysgenesis 4' SubClassOf 'Rieger anomaly' http://www.ebi.ac.uk/efo/EFO_0003931 bone fracture 'bone fracture' SubClassOf 'injury' 'bone fracture' SubClassOf 'injury' http://www.ebi.ac.uk/efo/EFO_0003938 aphthous ulcer 'aphthous ulcer' SubClassOf 'stomatitis' 'aphthous ulcer' SubClassOf 'disease has location' some 'mucosa of oral region' 'aphthous ulcer' SubClassOf 'stomatitis' 'aphthous ulcer' SubClassOf 'disease has location' some 'mucosa of oral region' http://purl.obolibrary.org/obo/MONDO_0032637 ciliary dyskinesia, primary, 39 'ciliary dyskinesia, primary, 39' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 39' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0007679 GMS syndrome 'GMS syndrome' SubClassOf 'syndromic disease' 'GMS syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy 'fibronectin glomerulopathy' SubClassOf 'glomerular disease' 'fibronectin glomerulopathy' SubClassOf 'glomerular disease' http://www.ebi.ac.uk/efo/EFO_0003966 eye disease 'eye disease' SubClassOf 'disease of orbital region' 'eye disease' SubClassOf 'disease has location' some 'camera-type eye' 'eye disease' SubClassOf 'disease of orbital region' 'eye disease' SubClassOf 'disease has location' some 'camera-type eye' http://purl.obolibrary.org/obo/MONDO_0007672 glomuvenous malformation 'glomuvenous malformation' SubClassOf 'genetic disorder' 'glomuvenous malformation' SubClassOf 'vascular malformation' 'glomuvenous malformation' SubClassOf 'genetic disorder' 'glomuvenous malformation' SubClassOf 'vascular malformation' http://purl.obolibrary.org/obo/MONDO_0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)' SubClassOf 'syndromic disease' 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)' SubClassOf 'primary lymphedema' 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)' SubClassOf 'syndromic disease' 'hypotrichosis-lymphedema-telangiectasia syndrome (grouping)' SubClassOf 'primary lymphedema' http://www.ebi.ac.uk/efo/EFO_0003964 hip fracture 'hip fracture' SubClassOf 'bone fracture' 'hip fracture' SubClassOf 'disease has location' some 'femur' 'hip fracture' SubClassOf 'bone fracture' 'hip fracture' SubClassOf 'disease has location' some 'femur' http://www.ebi.ac.uk/efo/EFO_0003968 angiosarcoma 'angiosarcoma' SubClassOf 'soft tissue sarcoma' 'angiosarcoma' SubClassOf 'vascular cancer' 'angiosarcoma' SubClassOf 'soft tissue sarcoma' 'angiosarcoma' SubClassOf 'vascular cancer' http://purl.obolibrary.org/obo/MONDO_0032631 mitochondrial complex 1 deficiency, nuclear type 27 'mitochondrial complex 1 deficiency, nuclear type 27' SubClassOf 'mitochondrial complex I deficiency, nuclear type' 'mitochondrial complex 1 deficiency, nuclear type 27' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0007688 Myhre syndrome 'Myhre syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Myhre syndrome' SubClassOf 'syndromic intellectual disability' 'Myhre syndrome' SubClassOf 'acromelic dysplasia' 'Myhre syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Myhre syndrome' SubClassOf 'syndromic intellectual disability' 'Myhre syndrome' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007686 gray platelet syndrome 'gray platelet syndrome' SubClassOf 'syndromic disease' 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'gray platelet syndrome' SubClassOf 'alpha granule disease' 'gray platelet syndrome' SubClassOf 'syndromic disease' 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'gray platelet syndrome' SubClassOf 'alpha granule disease' http://www.ebi.ac.uk/efo/EFO_0003950 ulna fracture 'ulna fracture' SubClassOf 'bone fracture' 'ulna fracture' SubClassOf 'bone fracture' http://www.ebi.ac.uk/efo/EFO_0003955 bacterial sexually transmitted disease 'bacterial sexually transmitted disease' SubClassOf 'bacterial disease' 'bacterial sexually transmitted disease' SubClassOf 'sexually transmitted disease' 'bacterial sexually transmitted disease' SubClassOf 'bacterial disease' 'bacterial sexually transmitted disease' SubClassOf 'sexually transmitted disease' http://purl.obolibrary.org/obo/MONDO_0007683 Grant syndrome 'Grant syndrome' SubClassOf 'genetic disorder' 'Grant syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007680 multinodular goiter-cystic kidney-polydactyly syndrome 'multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors 'goiter, multinodular 1, with or without Sertoli-Leydig cell tumors' SubClassOf 'multinodular goiter' 'goiter, multinodular 1, with or without Sertoli-Leydig cell tumors' SubClassOf 'hereditary neoplastic syndrome' 'goiter, multinodular 1, with or without Sertoli-Leydig cell tumors' SubClassOf 'multinodular goiter' 'goiter, multinodular 1, with or without Sertoli-Leydig cell tumors' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0017009 partial duplication of the short arm of chromosome X 'partial duplication of the short arm of chromosome X' SubClassOf 'partial duplication of chromosome X' 'partial duplication of the short arm of chromosome X' SubClassOf 'partial duplication of chromosome X' http://www.ebi.ac.uk/efo/EFO_0003958 sunburn 'sunburn' SubClassOf 'skin disease' 'sunburn' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0007690 aromatase excess syndrome 'aromatase excess syndrome' SubClassOf 'inborn errors of metabolism' 'aromatase excess syndrome' SubClassOf 'inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0003956 seasonal allergic rhinitis 'seasonal allergic rhinitis' SubClassOf 'allergic rhinitis' 'seasonal allergic rhinitis' SubClassOf 'allergic rhinitis' http://www.ebi.ac.uk/efo/EFO_0003957 radius fracture 'radius fracture' SubClassOf 'bone fracture' 'radius fracture' SubClassOf 'bone fracture' http://purl.obolibrary.org/obo/MONDO_0017007 partial deletion of the long arm of chromosome X 'partial deletion of the long arm of chromosome X' SubClassOf 'partial deletion of chromosome X' 'partial deletion of the long arm of chromosome X' SubClassOf 'partial deletion of chromosome X' http://purl.obolibrary.org/obo/MONDO_0017004 partial monosomy of the short arm of chromosome X 'partial monosomy of the short arm of chromosome X' SubClassOf 'partial deletion of chromosome X' 'partial monosomy of the short arm of chromosome X' SubClassOf 'partial deletion of chromosome X' http://purl.obolibrary.org/obo/MONDO_0032655 visual impairment and progressive phthisis bulbi 'visual impairment and progressive phthisis bulbi' SubClassOf 'genetic disorder' 'visual impairment and progressive phthisis bulbi' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 'microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum' SubClassOf 'genetic disorder' 'microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007698 hand-foot-genital syndrome 'hand-foot-genital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'hand-foot-genital syndrome' SubClassOf 'syndromic disease' 'hand-foot-genital syndrome' SubClassOf 'reproductive system disease' 'hand-foot-genital syndrome' SubClassOf 'dysostosis' 'hand-foot-genital syndrome' SubClassOf 'autosomal dominant disease' 'hand-foot-genital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'hand-foot-genital syndrome' SubClassOf 'syndromic disease' 'hand-foot-genital syndrome' SubClassOf 'dysostosis' 'hand-foot-genital syndrome' SubClassOf 'reproductive system disease' 'hand-foot-genital syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007696 Emery-Nelson syndrome 'Emery-Nelson syndrome' SubClassOf 'congenital limb malformation' 'Emery-Nelson syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0007693 hypertrichosis cubiti-short stature syndrome 'hypertrichosis cubiti-short stature syndrome' SubClassOf 'hypertrichosis' 'hypertrichosis cubiti-short stature syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'hypertrichosis cubiti-short stature syndrome' SubClassOf 'hypertrichosis' 'hypertrichosis cubiti-short stature syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0017019 interstitial lung disease specific to infancy 'interstitial lung disease specific to infancy' SubClassOf 'primary interstitial lung disease specific to childhood' 'interstitial lung disease specific to infancy' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0017012 partial duplication of the short arm of chromosome 1 'partial duplication of the short arm of chromosome 1' SubClassOf 'partial duplication of chromosome 1' 'partial duplication of the short arm of chromosome 1' SubClassOf 'partial duplication of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0017013 trisomy 8p 'trisomy 8p' SubClassOf 'partial duplication of the short arm of chromosome 8' 'trisomy 8p' SubClassOf 'partial duplication of the short arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0017014 interstitial lung disease specific to childhood 'interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease' 'interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0032651 fibrosis, neurodegeneration, and cerebral angiomatosis 'fibrosis, neurodegeneration, and cerebral angiomatosis' SubClassOf 'genetic disorder' 'fibrosis, neurodegeneration, and cerebral angiomatosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017015 primary interstitial lung disease specific to childhood 'primary interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease specific to childhood' 'primary interstitial lung disease specific to childhood' SubClassOf 'interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0017010 partial duplication of the long arm of chromosome X 'partial duplication of the long arm of chromosome X' SubClassOf 'partial duplication of chromosome X' 'partial duplication of the long arm of chromosome X' SubClassOf 'partial duplication of chromosome X' http://purl.obolibrary.org/obo/MONDO_0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 'mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations' SubClassOf 'genetic disorder' 'mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032645 trichohepatoneurodevelopmental syndrome 'trichohepatoneurodevelopmental syndrome' SubClassOf 'genetic disorder' 'trichohepatoneurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 'arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development' SubClassOf 'genetic disorder' 'arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017026 interstitial lung disease specific to adulthood 'interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease' 'interstitial lung disease specific to adulthood' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0032641 mirror movements 4 'mirror movements 4' SubClassOf 'familial congenital mirror movements' 'mirror movements 4' SubClassOf 'familial congenital mirror movements' http://www.ebi.ac.uk/efo/EFO_0003880 appendiceal neoplasm 'appendiceal neoplasm' SubClassOf 'cecal neoplasm' 'appendiceal neoplasm' SubClassOf 'cecal neoplasm' http://purl.obolibrary.org/obo/MONDO_0032677 lissencephaly 9 with complex brainstem malformation 'lissencephaly 9 with complex brainstem malformation' SubClassOf 'lissencephaly spectrum disorder with complex brainstem malformation' 'lissencephaly 9 with complex brainstem malformation' SubClassOf 'lissencephaly spectrum disorder with complex brainstem malformation' http://www.ebi.ac.uk/efo/EFO_0003882 osteoporosis 'osteoporosis' SubClassOf 'bone resorption disease' 'osteoporosis' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'osteoporosis' SubClassOf 'metabolic bone disorder' 'osteoporosis' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'osteoporosis' SubClassOf 'bone resorption disease' 'osteoporosis' SubClassOf 'metabolic bone disorder' http://www.ebi.ac.uk/efo/EFO_0003888 attention deficit hyperactivity disorder 'attention deficit hyperactivity disorder' SubClassOf 'specific developmental disorder' 'attention deficit hyperactivity disorder' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0017050 intraocular medulloepithelioma 'intraocular medulloepithelioma' SubClassOf 'eye neoplasm' 'intraocular medulloepithelioma' SubClassOf 'embryonal neoplasm' 'intraocular medulloepithelioma' SubClassOf 'eye neoplasm' 'intraocular medulloepithelioma' SubClassOf 'embryonal neoplasm' http://purl.obolibrary.org/obo/MONDO_0017051 classic maple syrup urine disease 'classic maple syrup urine disease' SubClassOf 'maple syrup urine disease' 'classic maple syrup urine disease' SubClassOf 'maple syrup urine disease' http://www.ebi.ac.uk/efo/EFO_0003870 brain aneurysm 'brain aneurysm' SubClassOf 'cerebral arterial disease' 'brain aneurysm' SubClassOf 'disease has location' some 'brain blood vessel' 'brain aneurysm' SubClassOf 'cerebral arterial disease' 'brain aneurysm' SubClassOf 'disease has location' some 'brain blood vessel' http://www.ebi.ac.uk/efo/EFO_0003873 parotid neoplasm 'parotid neoplasm' SubClassOf 'neoplasm of major salivary gland' 'parotid neoplasm' SubClassOf 'neoplasm of major salivary gland' http://www.ebi.ac.uk/efo/EFO_0003874 flatfoot 'flatfoot' SubClassOf 'skeletal system disease' 'flatfoot' SubClassOf 'skeletal system disease' http://www.ebi.ac.uk/efo/EFO_0003871 tongue neoplasm 'tongue neoplasm' SubClassOf 'head and neck neoplasia' 'tongue neoplasm' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_0003872 colitis 'colitis' SubClassOf 'inflammatory bowel disease' 'colitis' SubClassOf 'colonic disorder' 'colitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'colon') 'colitis' SubClassOf 'inflammatory bowel disease' 'colitis' SubClassOf 'colonic disorder' 'colitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'colon') http://www.ebi.ac.uk/efo/EFO_0003877 sleep apnea 'sleep apnea' SubClassOf 'respiratory system disease' 'sleep apnea' SubClassOf 'sleep-wake disorder' 'sleep apnea' SubClassOf 'respiratory system disease' 'sleep apnea' SubClassOf 'sleep-wake disorder' http://www.ebi.ac.uk/efo/EFO_0003878 urethritis 'urethritis' SubClassOf 'urethral disease' 'urethritis' SubClassOf 'urethral disease' http://www.ebi.ac.uk/efo/EFO_0003875 peripheral vascular disease 'peripheral vascular disease' SubClassOf 'vascular disease' 'peripheral vascular disease' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0003876 intermittent vascular claudication 'intermittent vascular claudication' SubClassOf 'arteriosclerosis disorder' 'intermittent vascular claudication' SubClassOf 'peripheral vascular disease' 'intermittent vascular claudication' SubClassOf 'arteriosclerosis disorder' 'intermittent vascular claudication' SubClassOf 'peripheral vascular disease' http://purl.obolibrary.org/obo/MONDO_0017045 neuroectodermal-endocrine syndrome 'neuroectodermal-endocrine syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'neuroectodermal-endocrine syndrome' SubClassOf 'polyendocrinopathy' 'neuroectodermal-endocrine syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'neuroectodermal-endocrine syndrome' SubClassOf 'polyendocrinopathy' http://purl.obolibrary.org/obo/MONDO_0032664 ciliary dyskinesia, primary, 40 'ciliary dyskinesia, primary, 40' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 40' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0017047 infantile axonal neuropathy 'infantile axonal neuropathy' SubClassOf 'hereditary peripheral neuropathy' 'infantile axonal neuropathy' SubClassOf 'axonal neuropathy' 'infantile axonal neuropathy' SubClassOf 'axonal neuropathy' 'infantile axonal neuropathy' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'genetic disorder' 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'disorder of visual system' 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'genetic disorder' 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'disorder of visual system' 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017042 thanatophoric dysplasia 'thanatophoric dysplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'thanatophoric dysplasia' SubClassOf 'osteochondrodysplasia' 'thanatophoric dysplasia' SubClassOf 'FGFR3-related chondrodysplasia' 'thanatophoric dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma 'congenital mesoblastic nephroma' SubClassOf 'embryonal neoplasm' 'congenital mesoblastic nephroma' SubClassOf 'mesoblastic nephroma' 'congenital mesoblastic nephroma' SubClassOf 'embryonal neoplasm' 'congenital mesoblastic nephroma' SubClassOf 'mesoblastic nephroma' http://purl.obolibrary.org/obo/MONDO_0017044 adult familial nephronophthisis-spastic quadriparesia syndrome 'adult familial nephronophthisis-spastic quadriparesia syndrome' SubClassOf 'familial cystic renal disease' 'adult familial nephronophthisis-spastic quadriparesia syndrome' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0017060 open iniencephaly 'open iniencephaly' SubClassOf 'iniencephaly' 'open iniencephaly' SubClassOf 'iniencephaly' http://purl.obolibrary.org/obo/MONDO_0017061 closed iniencephaly 'closed iniencephaly' SubClassOf 'iniencephaly' 'closed iniencephaly' SubClassOf 'iniencephaly' http://purl.obolibrary.org/obo/MONDO_0017062 spina bifida aperta 'spina bifida aperta' SubClassOf 'isolated spina bifida' 'spina bifida aperta' SubClassOf 'isolated spina bifida' http://purl.obolibrary.org/obo/MONDO_0032690 microcephaly, growth deficiency, seizures, and brain malformations 'microcephaly, growth deficiency, seizures, and brain malformations' SubClassOf 'genetic disorder' 'microcephaly, growth deficiency, seizures, and brain malformations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017056 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 'DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 21' 'DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion' SubClassOf 'DYRK1A-related intellectual disability syndrome' 'DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 21' 'DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion' SubClassOf 'DYRK1A-related intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0032697 Houge-Janssens syndrome 3 'Houge-Janssens syndrome 3' SubClassOf 'Houge-Janssens syndrome' 'Houge-Janssens syndrome 3' SubClassOf 'Houge-Janssens syndrome' http://purl.obolibrary.org/obo/MONDO_0017058 autosomal recessive intermediate Charcot-Marie-Tooth disease 'autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'intermediate Charcot-Marie-Tooth disease' 'autosomal recessive intermediate Charcot-Marie-Tooth disease' SubClassOf 'intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0017052 intermediate maple syrup urine disease 'intermediate maple syrup urine disease' SubClassOf 'maple syrup urine disease' 'intermediate maple syrup urine disease' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0017053 intermittent maple syrup urine disease 'intermittent maple syrup urine disease' SubClassOf 'maple syrup urine disease' 'intermittent maple syrup urine disease' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0017054 thiamine-responsive maple syrup urine disease 'thiamine-responsive maple syrup urine disease' SubClassOf 'maple syrup urine disease' 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and ('disease responds to' some 'vitamin B1') 'thiamine-responsive maple syrup urine disease' SubClassOf 'disease responds to' some 'vitamin B1' 'thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'vitamin B1' 'thiamine-responsive maple syrup urine disease' SubClassOf 'maple syrup urine disease' 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'vitamin B1') http://purl.obolibrary.org/obo/MONDO_0017070 total spina bifida cystica 'total spina bifida cystica' SubClassOf 'myelomeningocele' 'total spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017071 thoracolumbosacral spina bifida cystica 'thoracolumbosacral spina bifida cystica' SubClassOf 'myelomeningocele' 'thoracolumbosacral spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017072 lumbosacral spina bifida cystica 'lumbosacral spina bifida cystica' SubClassOf 'myelomeningocele' 'lumbosacral spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017073 cervical spina bifida cystica 'cervical spina bifida cystica' SubClassOf 'myelomeningocele' 'cervical spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0032688 polymicrogyria with or without vascular-type Ehlers-Danlos syndrome 'polymicrogyria with or without vascular-type Ehlers-Danlos syndrome' SubClassOf 'genetic disorder' 'polymicrogyria with or without vascular-type Ehlers-Danlos syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0003890 drug dependence 'drug dependence' SubClassOf 'substance dependence' 'drug dependence' SubClassOf 'substance dependence' http://www.ebi.ac.uk/efo/EFO_0003893 ovarian neoplasm 'ovarian neoplasm' SubClassOf 'ovarian disease' 'ovarian neoplasm' SubClassOf 'female reproductive system neoplasm' 'ovarian neoplasm' SubClassOf 'ovarian disease' 'ovarian neoplasm' SubClassOf 'female reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0003894 acne 'acne' SubClassOf 'sebaceous gland disease' 'acne' SubClassOf 'dermatitis' 'acne' SubClassOf 'sebaceous gland disease' 'acne' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_0003897 stomach neoplasm 'stomach neoplasm' SubClassOf 'digestive system neoplasm' 'stomach neoplasm' SubClassOf 'stomach disease' 'stomach neoplasm' SubClassOf 'digestive system neoplasm' 'stomach neoplasm' SubClassOf 'stomach disease' http://www.ebi.ac.uk/efo/EFO_0003898 ankylosing spondylitis 'ankylosing spondylitis' SubClassOf 'spondyloarthropathy' 'ankylosing spondylitis' SubClassOf 'spondylitis' 'ankylosing spondylitis' SubClassOf 'spondyloarthropathy' 'ankylosing spondylitis' SubClassOf 'spondylitis' http://purl.obolibrary.org/obo/MONDO_0017067 cervicothoracic spina bifida aperta 'cervicothoracic spina bifida aperta' SubClassOf 'spina bifida aperta' 'cervicothoracic spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017068 upper thoracic spina bifida aperta 'upper thoracic spina bifida aperta' SubClassOf 'spina bifida aperta' 'upper thoracic spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature 'intellectual developmental disorder with abnormal behavior, microcephaly, and short stature' SubClassOf 'genetic disorder' 'intellectual developmental disorder with abnormal behavior, microcephaly, and short stature' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017069 spina bifida cystica 'spina bifida cystica' SubClassOf 'isolated spina bifida' 'spina bifida cystica' SubClassOf 'isolated spina bifida' http://purl.obolibrary.org/obo/MONDO_0032684 intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency 'intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency' SubClassOf 'primordial dwarfism and slender bone disorder' 'intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 'infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development' SubClassOf 'genetic disorder' 'infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017063 total spina bifida aperta 'total spina bifida aperta' SubClassOf 'spina bifida aperta' 'total spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017064 thoracolumbosacral spina bifida aperta 'thoracolumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' 'thoracolumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017065 lumbosacral spina bifida aperta 'lumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' 'lumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017066 cervical spina bifida aperta 'cervical spina bifida aperta' SubClassOf 'spina bifida aperta' 'cervical spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0032681 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 'encephalopathy, progressive, early-onset, with episodic rhabdomyolysis' SubClassOf 'Mendelian encephalopathy' 'encephalopathy, progressive, early-onset, with episodic rhabdomyolysis' SubClassOf 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0017081 parietal encephalocele 'parietal encephalocele' SubClassOf 'isolated encephalocele' 'parietal encephalocele' SubClassOf 'isolated encephalocele' http://purl.obolibrary.org/obo/MONDO_0017082 basal encephalocele 'basal encephalocele' SubClassOf 'isolated encephalocele' 'basal encephalocele' SubClassOf 'isolated encephalocele' http://purl.obolibrary.org/obo/MONDO_0017084 leptomyelolipoma 'leptomyelolipoma' SubClassOf 'neural tube defect' 'leptomyelolipoma' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017080 occipital encephalocele 'occipital encephalocele' SubClassOf 'isolated encephalocele' 'occipital encephalocele' SubClassOf 'isolated encephalocele' http://purl.obolibrary.org/obo/MONDO_0017078 cephalocele 'cephalocele' SubClassOf 'congenital nervous system disorder' 'cephalocele' SubClassOf 'disorder of development or morphogenesis' 'cephalocele' SubClassOf 'disorder of development or morphogenesis' 'cephalocele' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017079 meningoencephalocele 'meningoencephalocele' SubClassOf 'meningocele' 'meningoencephalocele' SubClassOf 'cephalocele' 'meningoencephalocele' SubClassOf 'meningocele' 'meningoencephalocele' SubClassOf 'cephalocele' http://purl.obolibrary.org/obo/MONDO_0017074 cervicothoracic spina bifida cystica 'cervicothoracic spina bifida cystica' SubClassOf 'myelomeningocele' 'cervicothoracic spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017075 upper thoracic spina bifida cystica 'upper thoracic spina bifida cystica' SubClassOf 'myelomeningocele' 'upper thoracic spina bifida cystica' SubClassOf 'myelomeningocele' http://purl.obolibrary.org/obo/MONDO_0017076 posterior meningocele 'posterior meningocele' SubClassOf 'spina bifida cystica' 'posterior meningocele' SubClassOf 'spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0017077 myelocystocele 'myelocystocele' SubClassOf 'spina bifida cystica' 'myelocystocele' SubClassOf 'spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0017092 unilateral polymicrogyria 'unilateral polymicrogyria' SubClassOf 'polymicrogyria' 'unilateral polymicrogyria' SubClassOf 'polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0017093 unilateral focal polymicrogyria 'unilateral focal polymicrogyria' SubClassOf 'unilateral polymicrogyria' 'unilateral focal polymicrogyria' SubClassOf 'unilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0017094 cerebral cortical dysplasia 'cerebral cortical dysplasia' SubClassOf 'disorder of development or morphogenesis' 'cerebral cortical dysplasia' SubClassOf 'brain disease' 'cerebral cortical dysplasia' SubClassOf 'brain disease' 'cerebral cortical dysplasia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017095 isolated focal cortical dysplasia type I 'isolated focal cortical dysplasia type I' SubClassOf 'isolated focal cortical dysplasia' 'isolated focal cortical dysplasia type I' SubClassOf 'isolated focal cortical dysplasia' http://purl.obolibrary.org/obo/MONDO_0017091 bilateral polymicrogyria 'bilateral polymicrogyria' SubClassOf 'polymicrogyria' 'bilateral polymicrogyria' SubClassOf 'polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0017089 isolated megalencephaly 'isolated megalencephaly' SubClassOf 'megalencephaly' 'isolated megalencephaly' SubClassOf 'megalencephaly' http://purl.obolibrary.org/obo/MONDO_0017086 primary tethered cord syndrome 'primary tethered cord syndrome' SubClassOf 'neural tube defect' 'primary tethered cord syndrome' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017087 neurenteric cyst 'neurenteric cyst' SubClassOf 'neural tube defect' 'neurenteric cyst' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017088 isolated amyelia 'isolated amyelia' SubClassOf 'neural tube defect' 'isolated amyelia' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017096 isolated focal cortical dysplasia type Ia 'isolated focal cortical dysplasia type Ia' SubClassOf 'isolated focal cortical dysplasia type I' 'isolated focal cortical dysplasia type Ia' SubClassOf 'isolated focal cortical dysplasia type I' http://purl.obolibrary.org/obo/MONDO_0017097 isolated focal cortical dysplasia type Ib 'isolated focal cortical dysplasia type Ib' SubClassOf 'isolated focal cortical dysplasia type I' 'isolated focal cortical dysplasia type Ib' SubClassOf 'isolated focal cortical dysplasia type I' http://purl.obolibrary.org/obo/MONDO_0017098 isolated focal cortical dysplasia type Ic 'isolated focal cortical dysplasia type Ic' SubClassOf 'isolated focal cortical dysplasia type I' 'isolated focal cortical dysplasia type Ic' SubClassOf 'isolated focal cortical dysplasia type I' http://purl.obolibrary.org/obo/DOID_7551 gonorrhea 'gonorrhea' SubClassOf 'primary bacterial infectious disease' 'gonorrhea' SubClassOf 'bacterial sexually transmitted disease' 'gonorrhea' SubClassOf 'bacterial sexually transmitted disease' 'gonorrhea' SubClassOf 'primary bacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0007507 absence of fingerprints-congenital milia syndrome 'absence of fingerprints-congenital milia syndrome' SubClassOf 'epidermal disease' 'absence of fingerprints-congenital milia syndrome' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0007504 thickened earlobes-conductive deafness syndrome 'thickened earlobes-conductive deafness syndrome' SubClassOf 'genetic disorder' 'thickened earlobes-conductive deafness syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007500 ear malformation 'ear malformation' SubClassOf 'genetic disorder' 'ear malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007509 ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant 'ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant' SubClassOf 'autosomal dominant hypohidrotic ectodermal dysplasia' 'ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant' SubClassOf 'autosomal dominant hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate 'ectrodactyly and ectodermal dysplasia without cleft lip/palate' SubClassOf 'genetic disorder' 'ectrodactyly and ectodermal dysplasia without cleft lip/palate' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007514 ectopia lentis 1, isolated, autosomal dominant 'ectopia lentis 1, isolated, autosomal dominant' SubClassOf 'isolated ectopia lentis' 'ectopia lentis 1, isolated, autosomal dominant' SubClassOf 'isolated ectopia lentis' http://purl.obolibrary.org/obo/MONDO_0007510 Clouston syndrome 'Clouston syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Clouston syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007511 ectodermal dysplasia, trichoodontoonychial type 'ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia, trichoodontoonychial type' SubClassOf 'ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_0003802 refractory anemia 'refractory anemia' SubClassOf 'myelodysplastic syndrome' 'refractory anemia' SubClassOf 'myelodysplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0007527 Ehlers-Danlos syndrome, periodontitis type 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, periodontitis type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007525 Ehlers-Danlos syndrome, arthrochalasia type 'Ehlers-Danlos syndrome, arthrochalasia type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, arthrochalasia type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007526 Ehlers-Danlos syndrome, spondylodysplastic type 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007523 Ehlers-Danlos syndrome, hypermobility type 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, hypermobility type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type 'autosomal dominant Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome, vascular type' 'autosomal dominant Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome, vascular type' http://purl.obolibrary.org/obo/MONDO_0007522 Ehlers-Danlos syndrome, classic type 'Ehlers-Danlos syndrome, classic type' SubClassOf 'autosomal dominant disease' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'autosomal dominant disease' 'Ehlers-Danlos syndrome, classic type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007538 amelogenesis imperfecta, type 3A 'amelogenesis imperfecta, type 3A' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta, type 3A' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0007536 congenital lobar emphysema 'congenital lobar emphysema' SubClassOf 'emphysema' 'congenital lobar emphysema' SubClassOf 'emphysema' http://purl.obolibrary.org/obo/MONDO_0007537 lateral meningocele syndrome 'lateral meningocele syndrome' SubClassOf 'neural tube defect' 'lateral meningocele syndrome' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome 'Beckwith-Wiedemann syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'overgrowth syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0007533 elliptocytosis 2 'elliptocytosis 2' SubClassOf 'hereditary elliptocytosis' 'elliptocytosis 2' SubClassOf 'hereditary elliptocytosis' http://www.ebi.ac.uk/efo/EFO_0003820 bone neoplasm 'bone neoplasm' SubClassOf 'bone disease' 'bone neoplasm' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0003827 pulmonary embolism 'pulmonary embolism' SubClassOf 'disease has location' some 'pulmonary artery' 'pulmonary embolism' SubClassOf 'arterial disorder' 'pulmonary embolism' SubClassOf 'disease has location' some 'pulmonary artery' 'pulmonary embolism' SubClassOf 'arterial disorder' http://www.ebi.ac.uk/efo/EFO_0003824 eye neoplasm 'eye neoplasm' SubClassOf 'eye disease' 'eye neoplasm' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0003825 serous adenocarcinoma 'serous adenocarcinoma' SubClassOf 'adenocarcinoma' 'serous adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003828 spinal cord neoplasm 'spinal cord neoplasm' SubClassOf 'Central Nervous System Neoplasm' 'spinal cord neoplasm' SubClassOf 'Central Nervous System Neoplasm' http://purl.obolibrary.org/obo/MONDO_0007549 generalized dominant dystrophic epidermolysis bullosa 'generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' 'generalized dominant dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0007548 transient bullous dermolysis of the newborn 'transient bullous dermolysis of the newborn' SubClassOf 'epidermolysis bullosa dystrophica' 'transient bullous dermolysis of the newborn' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0007542 Camurati-Engelmann disease 'Camurati-Engelmann disease' SubClassOf 'syndromic disease' 'Camurati-Engelmann disease' SubClassOf 'skeletal dysplasia' 'Camurati-Engelmann disease' SubClassOf 'syndromic disease' 'Camurati-Engelmann disease' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_0003811 refractory anemia with excess blasts 'refractory anemia with excess blasts' SubClassOf 'myelodysplastic syndrome' 'refractory anemia with excess blasts' SubClassOf 'myelodysplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0007540 multiple endocrine neoplasia type 1 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 1' SubClassOf 'adrenal gland neoplasm' 'multiple endocrine neoplasia type 1' SubClassOf 'familial primary hyperparathyroidism' 'multiple endocrine neoplasia type 1' SubClassOf 'autosomal dominant disease' 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 1' SubClassOf 'adrenal gland neoplasm' 'multiple endocrine neoplasia type 1' SubClassOf 'familial primary hyperparathyroidism' 'multiple endocrine neoplasia type 1' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_0003812 refractory anemia with ringed sideroblasts 'refractory anemia with ringed sideroblasts' SubClassOf 'sideroblastic anemia' 'refractory anemia with ringed sideroblasts' SubClassOf 'myelodysplastic syndrome' 'refractory anemia with ringed sideroblasts' SubClassOf 'sideroblastic anemia' 'refractory anemia with ringed sideroblasts' SubClassOf 'myelodysplastic syndrome' http://www.ebi.ac.uk/efo/EFO_0003819 dental caries 'dental caries' SubClassOf 'tooth hard tissue disease' 'dental caries' SubClassOf 'tooth hard tissue disease' http://www.ebi.ac.uk/efo/EFO_0003817 laryngeal neoplasm 'laryngeal neoplasm' SubClassOf 'laryngeal disease' 'laryngeal neoplasm' SubClassOf 'laryngeal disease' http://www.ebi.ac.uk/efo/EFO_0003818 lung disease 'lung disease' SubClassOf 'lower respiratory tract disease' 'lung disease' SubClassOf 'lower respiratory tract disease' http://purl.obolibrary.org/obo/MONDO_0007558 benign occipital epilepsy 'benign occipital epilepsy' SubClassOf 'epilepsy syndrome' 'benign occipital epilepsy' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation 'epidermolysis bullosa simplex 2F, with mottled pigmentation' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 2F, with mottled pigmentation' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0007554 epidermolysis bullosa simplex 1B, generalized intermediate 'epidermolysis bullosa simplex 1B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 1B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex' http://www.ebi.ac.uk/efo/EFO_0003840 chronic progressive multiple sclerosis 'chronic progressive multiple sclerosis' SubClassOf 'multiple sclerosis' 'chronic progressive multiple sclerosis' SubClassOf 'multiple sclerosis' http://www.ebi.ac.uk/efo/EFO_0003841 thyroid neoplasm 'thyroid neoplasm' SubClassOf 'thyroid disease' 'thyroid neoplasm' SubClassOf 'thyroid disease' http://purl.obolibrary.org/obo/MONDO_0007555 pidermolysis bullosa simplex 5A, Ogna type 'pidermolysis bullosa simplex 5A, Ogna type' SubClassOf 'epidermolysis bullosa simplex' 'pidermolysis bullosa simplex 5A, Ogna type' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0007552 pretibial dystrophic epidermolysis bullosa 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://www.ebi.ac.uk/efo/EFO_0003844 ureteral neoplasm 'ureteral neoplasm' SubClassOf 'urinary system neoplasm' 'ureteral neoplasm' SubClassOf 'urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0007550 epidermolysis bullosa simplex 1A, generalized severe 'epidermolysis bullosa simplex 1A, generalized severe' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 1A, generalized severe' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0007551 epidermolysis bullosa simplex 1C, localized 'epidermolysis bullosa simplex 1C, localized' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 1C, localized' SubClassOf 'epidermolysis bullosa simplex' http://www.ebi.ac.uk/efo/EFO_0003849 palatal neoplasm 'palatal neoplasm' SubClassOf 'mouth neoplasm' 'palatal neoplasm' SubClassOf 'mouth neoplasm' http://www.ebi.ac.uk/efo/EFO_0003846 urethral neoplasm 'urethral neoplasm' SubClassOf 'urinary system neoplasm' 'urethral neoplasm' SubClassOf 'urethral disease' 'urethral neoplasm' SubClassOf 'urinary system neoplasm' 'urethral neoplasm' SubClassOf 'urethral disease' http://purl.obolibrary.org/obo/MONDO_0007565 familial cylindromatosis 'familial cylindromatosis' SubClassOf 'Brooke-Spiegler syndrome' 'familial cylindromatosis' SubClassOf 'Brooke-Spiegler syndrome' http://www.ebi.ac.uk/efo/EFO_0003830 prostatitis 'prostatitis' SubClassOf 'prostate disease' 'prostatitis' SubClassOf 'prostate disease' http://purl.obolibrary.org/obo/MONDO_0007566 multiple self-healing squamous epithelioma 'multiple self-healing squamous epithelioma' SubClassOf 'hereditary neoplastic syndrome' 'multiple self-healing squamous epithelioma' SubClassOf 'hereditary neoplastic syndrome' http://www.ebi.ac.uk/efo/EFO_0003833 brain neoplasm 'brain neoplasm' SubClassOf 'Central Nervous System Neoplasm' 'brain neoplasm' SubClassOf 'Central Nervous System Neoplasm' http://purl.obolibrary.org/obo/MONDO_0007561 multiple epiphyseal dysplasia type 1 'multiple epiphyseal dysplasia type 1' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 1' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007562 multiple epiphyseal dysplasia, Beighton type 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'type 2 collagenopathy' 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'type 2 collagenopathy' http://www.ebi.ac.uk/efo/EFO_0003834 cutaneous lupus erythematosus 'cutaneous lupus erythematosus' SubClassOf 'lupus erythematosus' 'cutaneous lupus erythematosus' SubClassOf 'lupus erythematosus' http://www.ebi.ac.uk/efo/EFO_0003835 anal neoplasm 'anal neoplasm' SubClassOf 'anus disease' 'anal neoplasm' SubClassOf 'rectal neoplasm' 'anal neoplasm' SubClassOf 'anus disease' 'anal neoplasm' SubClassOf 'rectal neoplasm' http://www.ebi.ac.uk/efo/EFO_0003839 retinopathy 'retinopathy' SubClassOf 'eye disease' 'retinopathy' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007576 esophageal cancer 'esophageal cancer' SubClassOf 'digestive system cancer' 'esophageal cancer' SubClassOf 'neoplasm of esophagus' 'esophageal cancer' SubClassOf 'digestive system cancer' 'esophageal cancer' SubClassOf 'neoplasm of esophagus' http://purl.obolibrary.org/obo/MONDO_0007574 spinocerebellar ataxia type 34 'spinocerebellar ataxia type 34' SubClassOf 'erythrokeratoderma' 'spinocerebellar ataxia type 34' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 34' SubClassOf 'erythrokeratoderma' 'spinocerebellar ataxia type 34' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://www.ebi.ac.uk/efo/EFO_0003866 paranasal sinus neoplasm 'paranasal sinus neoplasm' SubClassOf 'paranasal sinus disease' 'paranasal sinus neoplasm' SubClassOf 'paranasal sinus disease' http://purl.obolibrary.org/obo/MONDO_0007572 primary familial polycythemia due to EPO receptor mutation 'primary familial polycythemia due to EPO receptor mutation' SubClassOf 'familial polycythemia' 'primary familial polycythemia due to EPO receptor mutation' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0007573 erythroleukemia, familial, susceptibility to 'erythroleukemia, familial, susceptibility to' SubClassOf 'predisposes towards' some 'acute erythroleukemia' 'erythroleukemia, familial, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'acute erythroleukemia' http://purl.obolibrary.org/obo/MONDO_0007570 erythema palmare hereditarium 'erythema palmare hereditarium' SubClassOf 'skin disease' 'erythema palmare hereditarium' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0003865 kidney neoplasm 'kidney neoplasm' SubClassOf 'urinary system neoplasm' 'kidney neoplasm' SubClassOf 'kidney disease' 'kidney neoplasm' SubClassOf 'urinary system neoplasm' 'kidney neoplasm' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0007571 primary erythermalgia 'primary erythermalgia' SubClassOf 'erythromelalgia' 'primary erythermalgia' SubClassOf 'erythromelalgia' http://www.ebi.ac.uk/efo/EFO_0003868 mouth neoplasm 'mouth neoplasm' SubClassOf 'mouth disease' 'mouth neoplasm' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm 'breast neoplasm' SubClassOf 'neoplasm of thorax' 'breast neoplasm' SubClassOf 'breast disease' 'breast neoplasm' SubClassOf 'neoplasm of thorax' 'breast neoplasm' SubClassOf 'breast disease' http://www.ebi.ac.uk/efo/EFO_0003852 developmental disability 'developmental disability' SubClassOf 'nervous system disease' 'developmental disability' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0007585 exostoses, multiple, type 1 'exostoses, multiple, type 1' SubClassOf 'hereditary multiple osteochondromas' 'exostoses, multiple, type 1' SubClassOf 'hereditary multiple osteochondromas' http://www.ebi.ac.uk/efo/EFO_0003850 adrenal gland neoplasm 'adrenal gland neoplasm' SubClassOf 'adrenal gland disease' 'adrenal gland neoplasm' SubClassOf 'endocrine neoplasm' 'adrenal gland neoplasm' SubClassOf 'adrenal gland disease' 'adrenal gland neoplasm' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 'exostoses, multiple, type 2' SubClassOf 'hereditary multiple osteochondromas' 'exostoses, multiple, type 2' SubClassOf 'hereditary multiple osteochondromas' http://www.ebi.ac.uk/efo/EFO_0003855 intestinal polyp 'intestinal polyp' SubClassOf 'polyp' 'intestinal polyp' SubClassOf 'polyp' http://purl.obolibrary.org/obo/MONDO_0007584 exostoses-anetodermia-brachydactyly type E syndrome 'exostoses-anetodermia-brachydactyly type E syndrome' SubClassOf 'genetic disorder' 'exostoses-anetodermia-brachydactyly type E syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0003853 respiratory system neoplasm 'respiratory system neoplasm' SubClassOf 'respiratory system disease' 'respiratory system neoplasm' SubClassOf 'respiratory system disease' http://www.ebi.ac.uk/efo/EFO_0003854 postmenopausal osteoporosis 'postmenopausal osteoporosis' SubClassOf 'osteoporosis' 'postmenopausal osteoporosis' SubClassOf 'osteoporosis' http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm 'uterine neoplasm' SubClassOf 'female reproductive system neoplasm' 'uterine neoplasm' SubClassOf 'uterine disorder' 'uterine neoplasm' SubClassOf 'female reproductive system neoplasm' 'uterine neoplasm' SubClassOf 'uterine disorder' http://purl.obolibrary.org/obo/MONDO_0007590 hemifacial hypertrophy 'hemifacial hypertrophy' SubClassOf 'overgrowth syndrome' 'hemifacial hypertrophy' SubClassOf 'overgrowth syndrome' http://www.ebi.ac.uk/efo/EFO_0003857 arthrogryposis 'arthrogryposis' SubClassOf 'movement disorder' 'arthrogryposis' SubClassOf 'movement disorder' http://www.ebi.ac.uk/efo/EFO_0003763 cerebrovascular disorder 'cerebrovascular disorder' SubClassOf 'brain disease' 'cerebrovascular disorder' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0003764 transient ischemic attack 'transient ischemic attack' SubClassOf 'brain ischemia' 'transient ischemic attack' SubClassOf 'brain ischemia' http://www.ebi.ac.uk/efo/EFO_0003761 unipolar depression 'unipolar depression' SubClassOf 'depressive disorder' 'unipolar depression' SubClassOf 'depressive disorder' http://www.ebi.ac.uk/efo/EFO_0003767 inflammatory bowel disease 'inflammatory bowel disease' SubClassOf 'intestinal disease' 'inflammatory bowel disease' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0003768 nicotine dependence 'nicotine dependence' SubClassOf 'drug dependence' 'nicotine dependence' SubClassOf 'drug dependence' http://purl.obolibrary.org/obo/MONDO_0007592 familial recurrent peripheral facial palsy 'familial recurrent peripheral facial palsy' SubClassOf 'hereditary peripheral neuropathy' 'familial recurrent peripheral facial palsy' SubClassOf 'hereditary peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0003769 endocrine neoplasm 'endocrine neoplasm' SubClassOf 'endocrine system disease' 'endocrine neoplasm' SubClassOf 'neoplasm' 'endocrine neoplasm' SubClassOf 'endocrine system disease' 'endocrine neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0003756 autism spectrum disorder 'autism spectrum disorder' SubClassOf 'pervasive developmental disorder' 'autism spectrum disorder' SubClassOf 'pervasive developmental disorder' http://www.ebi.ac.uk/efo/EFO_0003757 Asperger syndrome 'Asperger syndrome' SubClassOf 'autism spectrum disorder' 'Asperger syndrome' SubClassOf 'autism spectrum disorder' http://www.ebi.ac.uk/efo/EFO_0003758 autism 'autism' SubClassOf 'autism spectrum disorder' 'autism' SubClassOf 'autism spectrum disorder' http://www.ebi.ac.uk/efo/EFO_0003781 carotid artery disease 'carotid artery disease' SubClassOf 'cerebrovascular disorder' 'carotid artery disease' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0003782 motor neuron disease 'motor neuron disease' SubClassOf 'neuromuscular disease' 'motor neuron disease' SubClassOf 'neurodegenerative disease' 'motor neuron disease' SubClassOf 'neuromuscular disease' 'motor neuron disease' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0003780 Behcet's syndrome 'Behcet's syndrome' SubClassOf 'skin vascular disease' 'Behcet's syndrome' SubClassOf 'disease has location' some 'blood vessel' 'Behcet's syndrome' SubClassOf 'syndromic disease' 'Behcet's syndrome' SubClassOf 'skin vascular disease' 'Behcet's syndrome' SubClassOf 'disease has location' some 'blood vessel' 'Behcet's syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0003783 progressive bulbar palsy 'progressive bulbar palsy' SubClassOf 'cranial nerve palsy' 'progressive bulbar palsy' SubClassOf 'palsy' 'progressive bulbar palsy' SubClassOf 'riboflavin transporter deficiency' 'progressive bulbar palsy' SubClassOf 'cranial nerve palsy' 'progressive bulbar palsy' SubClassOf 'palsy' 'progressive bulbar palsy' SubClassOf 'riboflavin transporter deficiency' http://purl.obolibrary.org/obo/MONDO_0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 'osteochondrodysplasia, brachydactyly, and overlapping malformed digits' SubClassOf 'genetic disorder' 'osteochondrodysplasia, brachydactyly, and overlapping malformed digits' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032572 cardiac, facial, and digital anomalies with developmental delay 'cardiac, facial, and digital anomalies with developmental delay' SubClassOf 'genetic disorder' 'cardiac, facial, and digital anomalies with developmental delay' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0003770 diabetic retinopathy 'diabetic retinopathy' SubClassOf 'metabolic disease' 'diabetic retinopathy' SubClassOf 'retinal vascular disorder' 'diabetic retinopathy' SubClassOf 'metabolic disease' 'diabetic retinopathy' SubClassOf 'retinal vascular disorder' http://www.ebi.ac.uk/efo/EFO_0003778 psoriatic arthritis 'psoriatic arthritis' SubClassOf 'syndromic disease' 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and ('disease has major feature' some 'psoriasis') 'psoriatic arthritis' SubClassOf 'disease has major feature' some 'psoriasis' 'psoriatic arthritis' SubClassOf 'syndromic disease' 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'psoriasis') 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'psoriasis' http://www.ebi.ac.uk/efo/EFO_0003779 Hashimoto's thyroiditis 'Hashimoto's thyroiditis' SubClassOf 'autoimmune thyroid disease' 'Hashimoto's thyroiditis' SubClassOf 'autoimmune thyroid disease' http://www.ebi.ac.uk/efo/EFO_0003777 heart disease 'heart disease' SubClassOf 'cardiovascular disease' 'heart disease' SubClassOf 'cardiovascular disease' http://purl.obolibrary.org/obo/MONDO_0032565 ophthalmoplegia, external, with rib and vertebral anomalies 'ophthalmoplegia, external, with rib and vertebral anomalies' SubClassOf 'genetic disorder' 'ophthalmoplegia, external, with rib and vertebral anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032591 hyperparathyroidism, transient neonatal 'hyperparathyroidism, transient neonatal' SubClassOf 'abnormal mineralization disorder' 'hyperparathyroidism, transient neonatal' SubClassOf 'hereditary hyperparathyroidism' 'hyperparathyroidism, transient neonatal' SubClassOf 'abnormal mineralization disorder' 'hyperparathyroidism, transient neonatal' SubClassOf 'hereditary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome 'cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007404 Cri-du-chat syndrome 'Cri-du-chat syndrome' SubClassOf 'partial deletion of the short arm of chromosome 5' 'Cri-du-chat syndrome' SubClassOf 'syndromic disease' 'Cri-du-chat syndrome' SubClassOf 'partial deletion of the short arm of chromosome 5' 'Cri-du-chat syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007405 Crouzon syndrome 'Crouzon syndrome' SubClassOf 'syndromic craniosynostosis' 'Crouzon syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0007403 inherited Creutzfeldt-Jakob disease 'inherited Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'inherited Creutzfeldt-Jakob disease' SubClassOf 'inherited neurodegenerative disorder' 'inherited Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'inherited Creutzfeldt-Jakob disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0007400 Jackson-Weiss syndrome 'Jackson-Weiss syndrome' SubClassOf 'acrocephalosyndactyly' 'Jackson-Weiss syndrome' SubClassOf 'acrocephalosyndactyly' http://purl.obolibrary.org/obo/MONDO_0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'familial scaphocephaly syndrome' 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'familial scaphocephaly syndrome' http://purl.obolibrary.org/obo/MONDO_0007417 Darier disease 'Darier disease' SubClassOf 'epidermal disease' 'Darier disease' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0007415 mitochondrial complex III deficiency nuclear type 1 'mitochondrial complex III deficiency nuclear type 1' SubClassOf 'mitochondrial complex III deficiency, nuclear type' 'mitochondrial complex III deficiency nuclear type 1' SubClassOf 'mitochondrial complex III deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0007413 Cyprus facial-neuromusculoskeletal syndrome 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'skeletal muscle disorder' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0007414 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'disappearing bone disease' 'Gorham-Stout disease' SubClassOf 'lymphangioma' 'Gorham-Stout disease' SubClassOf 'rheumatic disease' 'Gorham-Stout disease' SubClassOf 'disappearing bone disease' 'Gorham-Stout disease' SubClassOf 'lymphangioma' 'Gorham-Stout disease' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0007411 cutis laxa, autosomal dominant 1 'cutis laxa, autosomal dominant 1' SubClassOf 'autosomal dominant cutis laxa' 'cutis laxa, autosomal dominant 1' SubClassOf 'autosomal dominant cutis laxa' http://purl.obolibrary.org/obo/MONDO_0007412 Beare-Stevenson cutis gyrata syndrome 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'syndromic craniosynostosis' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'autosomal dominant disease' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'syndromic craniosynostosis' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007410 isolated cryptophthalmia 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia' 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0007428 deafness-craniofacial syndrome 'deafness-craniofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'deafness-craniofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007424 autosomal dominant nonsyndromic hearing loss 1 'autosomal dominant nonsyndromic hearing loss 1' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 1' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007422 keratoderma hereditarium mutilans 'keratoderma hereditarium mutilans' SubClassOf 'genetic disorder' 'keratoderma hereditarium mutilans' SubClassOf 'integumentary system disease' 'keratoderma hereditarium mutilans' SubClassOf 'genetic disorder' 'keratoderma hereditarium mutilans' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0007420 autosomal dominant deafness - onychodystrophy syndrome 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'integumentary system disease' 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'syndromic disease' 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'integumentary system disease' 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007421 deafness-ear malformation-facial palsy syndrome 'deafness-ear malformation-facial palsy syndrome' SubClassOf 'genetic disorder' 'deafness-ear malformation-facial palsy syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007437 dentin dysplasia type II 'dentin dysplasia type II' SubClassOf 'dentin dysplasia' 'dentin dysplasia type II' SubClassOf 'genetic disorder' 'dentin dysplasia type II' SubClassOf 'dentin dysplasia' 'dentin dysplasia type II' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007438 dentin dysplasia-sclerotic bones syndrome 'dentin dysplasia-sclerotic bones syndrome' SubClassOf 'genetic disorder' 'dentin dysplasia-sclerotic bones syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007435 dentatorubral-pallidoluysian atrophy 'dentatorubral-pallidoluysian atrophy' SubClassOf 'Huntington disease-like syndrome' 'dentatorubral-pallidoluysian atrophy' SubClassOf 'autosomal dominant cerebellar ataxia type IV' 'dentatorubral-pallidoluysian atrophy' SubClassOf 'Huntington disease-like syndrome' 'dentatorubral-pallidoluysian atrophy' SubClassOf 'autosomal dominant cerebellar ataxia type IV' http://purl.obolibrary.org/obo/MONDO_0007436 dentin dysplasia type I 'dentin dysplasia type I' SubClassOf 'dentin dysplasia' 'dentin dysplasia type I' SubClassOf 'genetic disorder' 'dentin dysplasia type I' SubClassOf 'dentin dysplasia' 'dentin dysplasia type I' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007434 primary failure of tooth eruption 'primary failure of tooth eruption' SubClassOf 'genetic disorder' 'primary failure of tooth eruption' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'vascular disease' 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'syndromic disease' 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'vascular disease' 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007449 dermo-odonto dysplasia 'dermo-odonto dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'dermo-odonto dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007447 autosomal dominant vibratory urticaria 'autosomal dominant vibratory urticaria' SubClassOf 'vibratory urticaria' 'autosomal dominant vibratory urticaria' SubClassOf 'vibratory urticaria' http://purl.obolibrary.org/obo/MONDO_0007445 dermatopathia pigmentosa reticularis 'dermatopathia pigmentosa reticularis' SubClassOf 'hyperpigmentation of the skin' 'dermatopathia pigmentosa reticularis' SubClassOf 'diffuse palmoplantar keratoderma' 'dermatopathia pigmentosa reticularis' SubClassOf 'ectodermal dysplasia syndrome' 'dermatopathia pigmentosa reticularis' SubClassOf 'hyperpigmentation of the skin' 'dermatopathia pigmentosa reticularis' SubClassOf 'diffuse palmoplantar keratoderma' 'dermatopathia pigmentosa reticularis' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007442 dentinogenesis imperfecta type 3 'dentinogenesis imperfecta type 3' SubClassOf 'genetic disorder' 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta' 'dentinogenesis imperfecta type 3' SubClassOf 'genetic disorder' 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0007441 dentinogenesis imperfecta type 2 'dentinogenesis imperfecta type 2' SubClassOf 'genetic disorder' 'dentinogenesis imperfecta type 2' SubClassOf 'dentinogenesis imperfecta' 'dentinogenesis imperfecta type 2' SubClassOf 'genetic disorder' 'dentinogenesis imperfecta type 2' SubClassOf 'dentinogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0007453 maturity-onset diabetes of the young type 2 'maturity-onset diabetes of the young type 2' SubClassOf 'maturity-onset diabetes of the young' 'maturity-onset diabetes of the young type 2' SubClassOf 'maturity-onset diabetes of the young' http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, autosomal 'diabetes insipidus, nephrogenic, autosomal' SubClassOf 'nephrogenic diabetes insipidus' 'diabetes insipidus, nephrogenic, autosomal' SubClassOf 'nephrogenic diabetes insipidus' http://purl.obolibrary.org/obo/MONDO_0007450 neurohypophyseal diabetes insipidus 'neurohypophyseal diabetes insipidus' SubClassOf 'pituitary gland disease' 'neurohypophyseal diabetes insipidus' SubClassOf 'diabetes insipidus' 'neurohypophyseal diabetes insipidus' SubClassOf 'pituitary gland disease' 'neurohypophyseal diabetes insipidus' SubClassOf 'diabetes insipidus' http://purl.obolibrary.org/obo/MONDO_0007462 multiple sclerosis, susceptibility to 'multiple sclerosis, susceptibility to' SubClassOf 'predisposes towards' some 'multiple sclerosis' 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'multiple sclerosis') 'multiple sclerosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple sclerosis' 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple sclerosis') http://purl.obolibrary.org/obo/MONDO_0007461 short stature-valvular heart disease-characteristic facies syndrome 'short stature-valvular heart disease-characteristic facies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short stature-valvular heart disease-characteristic facies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007470 calvarial doughnut lesions-bone fragility syndrome 'calvarial doughnut lesions-bone fragility syndrome' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'calvarial doughnut lesions-bone fragility syndrome' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0007477 3-M syndrome '3-M syndrome' SubClassOf 'syndromic disease' '3-M syndrome' SubClassOf 'autosomal recessive disease' '3-M syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '3-M syndrome' SubClassOf 'syndromic disease' '3-M syndrome' SubClassOf 'autosomal recessive disease' '3-M syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007478 autosomal dominant Kenny-Caffey syndrome 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' http://purl.obolibrary.org/obo/MONDO_0007476 familial Dupuytren contracture 'familial Dupuytren contracture' SubClassOf 'Superficial Fibromatosis' 'familial Dupuytren contracture' SubClassOf 'Superficial Fibromatosis' http://purl.obolibrary.org/obo/MONDO_0007473 Duane retraction syndrome 'Duane retraction syndrome' SubClassOf 'syndromic disease' 'Duane retraction syndrome' SubClassOf 'nuclear oculomotor paralysis' 'Duane retraction syndrome' SubClassOf 'syndromic disease' 'Duane retraction syndrome' SubClassOf 'nuclear oculomotor paralysis' http://purl.obolibrary.org/obo/MONDO_0007471 Doyne honeycomb retinal dystrophy 'Doyne honeycomb retinal dystrophy' SubClassOf 'retinal drusen' 'Doyne honeycomb retinal dystrophy' SubClassOf 'familial flecked retinopathy' 'Doyne honeycomb retinal dystrophy' SubClassOf 'retinal drusen' 'Doyne honeycomb retinal dystrophy' SubClassOf 'familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0007481 Leri-Weill dyschondrosteosis 'Leri-Weill dyschondrosteosis' SubClassOf 'skeletal dysplasia' 'Leri-Weill dyschondrosteosis' SubClassOf 'osteochondrodysplasia' 'Leri-Weill dyschondrosteosis' SubClassOf 'skeletal dysplasia' 'Leri-Weill dyschondrosteosis' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0007489 dysplasia epiphysealis hemimelica 'dysplasia epiphysealis hemimelica' SubClassOf 'skeletal dysplasia' 'dysplasia epiphysealis hemimelica' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007486 hereditary benign intraepithelial dyskeratosis 'hereditary benign intraepithelial dyskeratosis' SubClassOf 'superficial corneal dystrophy' 'hereditary benign intraepithelial dyskeratosis' SubClassOf 'syndromic disease' 'hereditary benign intraepithelial dyskeratosis' SubClassOf 'superficial corneal dystrophy' 'hereditary benign intraepithelial dyskeratosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007482 dyschondrosteosis-nephritis syndrome 'dyschondrosteosis-nephritis syndrome' SubClassOf 'syndromic disease' 'dyschondrosteosis-nephritis syndrome' SubClassOf 'skeletal dysplasia' 'dyschondrosteosis-nephritis syndrome' SubClassOf 'syndromic disease' 'dyschondrosteosis-nephritis syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007483 dyschromatosis symmetrica hereditaria 'dyschromatosis symmetrica hereditaria' SubClassOf 'ADAR-related type 1 interferonopathy' 'dyschromatosis symmetrica hereditaria' SubClassOf 'hyperpigmentation of the skin' 'dyschromatosis symmetrica hereditaria' SubClassOf 'reticulate pigment disorder' 'dyschromatosis symmetrica hereditaria' SubClassOf 'ADAR-related type 1 interferonopathy' 'dyschromatosis symmetrica hereditaria' SubClassOf 'hyperpigmentation of the skin' 'dyschromatosis symmetrica hereditaria' SubClassOf 'reticulate pigment disorder' http://purl.obolibrary.org/obo/MONDO_0007492 early-onset generalized limb-onset dystonia 'early-onset generalized limb-onset dystonia' SubClassOf 'early-onset generalized dystonia' 'early-onset generalized limb-onset dystonia' SubClassOf 'early-onset generalized dystonia' http://purl.obolibrary.org/obo/MONDO_0007490 carpotarsal osteochondromatosis 'carpotarsal osteochondromatosis' SubClassOf 'skeletal dysplasia' 'carpotarsal osteochondromatosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007495 dystonia 5 'dystonia 5' SubClassOf 'disease responds to' some 'L-dopa' 'dystonia 5' SubClassOf 'inherited dystonia' 'dystonia 5' SubClassOf 'dopa-responsive dystonia' 'dystonia 5' SubClassOf 'GTP cyclohydrolase I deficiency' 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'L-dopa' 'dystonia 5' SubClassOf 'inherited dystonia' 'dystonia 5' SubClassOf 'dopa-responsive dystonia' 'dystonia 5' SubClassOf 'GTP cyclohydrolase I deficiency' http://purl.obolibrary.org/obo/MONDO_0007496 dystonia 12 'dystonia 12' SubClassOf 'combined dystonia' 'dystonia 12' SubClassOf 'parkinsonian disorder' 'dystonia 12' SubClassOf 'combined dystonia' 'dystonia 12' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0007493 torsion dystonia 4 'torsion dystonia 4' SubClassOf 'focal, segmental or multifocal dystonia' 'torsion dystonia 4' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0032485 intellectual developmental disorder 61 'intellectual developmental disorder 61' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual developmental disorder 61' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/DOID_10113 trypanosomiasis 'trypanosomiasis' SubClassOf 'protozoa infectious disease' 'trypanosomiasis' SubClassOf 'protozoa infectious disease' http://purl.obolibrary.org/obo/MONDO_0007309 Charcot-Marie-Tooth disease type 1A 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'partial duplication of the short arm of chromosome 17' 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1A' SubClassOf 'partial duplication of the short arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0007307 Charcot-Marie-Tooth disease type 1B 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1B' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/MONDO_0007308 Charcot-Marie-Tooth disease type 2A1 'Charcot-Marie-Tooth disease type 2A1' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2A1' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0007306 Klippel-Feil syndrome 1, autosomal dominant 'Klippel-Feil syndrome 1, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' 'Klippel-Feil syndrome 1, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0007301 cerebrocostomandibular syndrome 'cerebrocostomandibular syndrome' SubClassOf 'syndromic disease' 'cerebrocostomandibular syndrome' SubClassOf 'skeletal dysplasia' 'cerebrocostomandibular syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'cerebrocostomandibular syndrome' SubClassOf 'syndromic disease' 'cerebrocostomandibular syndrome' SubClassOf 'skeletal dysplasia' 'cerebrocostomandibular syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome 'Alagille syndrome' SubClassOf 'biliary tract disease' 'Alagille syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alagille syndrome' SubClassOf 'eye disease' 'Alagille syndrome' SubClassOf 'syndromic disease' 'Alagille syndrome' SubClassOf 'biliary tract disease' 'Alagille syndrome' SubClassOf 'eye disease' 'Alagille syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alagille syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007319 chondrocalcinosis 2 'chondrocalcinosis 2' SubClassOf 'chondrocalcinosis' 'chondrocalcinosis 2' SubClassOf 'rheumatic disease' 'chondrocalcinosis 2' SubClassOf 'abnormal mineralization disorder' 'chondrocalcinosis 2' SubClassOf 'chondrocalcinosis' 'chondrocalcinosis 2' SubClassOf 'rheumatic disease' 'chondrocalcinosis 2' SubClassOf 'abnormal mineralization disorder' http://purl.obolibrary.org/obo/MONDO_0007316 Chiari malformation type I 'Chiari malformation type I' SubClassOf 'neural tube defect' 'Chiari malformation type I' SubClassOf 'Chiari malformation' 'Chiari malformation type I' SubClassOf 'neural tube defect' 'Chiari malformation type I' SubClassOf 'Chiari malformation' http://purl.obolibrary.org/obo/MONDO_0007315 cherubism 'cherubism' SubClassOf 'hereditary neoplastic syndrome' 'cherubism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cherubism' SubClassOf 'autosomal dominant disease' 'cherubism' SubClassOf 'skeletal system disease' 'cherubism' SubClassOf 'hereditary neoplastic syndrome' 'cherubism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cherubism' SubClassOf 'autosomal dominant disease' 'cherubism' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0007311 Charcot-Marie-Tooth disease type 1E 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/MONDO_0007329 cirrhosis, familial 'cirrhosis, familial' SubClassOf 'genetic disorder' 'cirrhosis, familial' SubClassOf 'cirrhosis of liver' 'cirrhosis, familial' SubClassOf 'telomere syndrome' 'cirrhosis, familial' SubClassOf 'genetic disorder' 'cirrhosis, familial' SubClassOf 'cirrhosis of liver' 'cirrhosis, familial' SubClassOf 'telomere syndrome' http://purl.obolibrary.org/obo/MONDO_0007321 autosomal dominant chondrodysplasia punctata 'autosomal dominant chondrodysplasia punctata' SubClassOf 'non-rhizomelic chondrodysplasia punctata' 'autosomal dominant chondrodysplasia punctata' SubClassOf 'syndromic disease' 'autosomal dominant chondrodysplasia punctata' SubClassOf 'non-rhizomelic chondrodysplasia punctata' 'autosomal dominant chondrodysplasia punctata' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007339 blepharocheilodontic syndrome 'blepharocheilodontic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'blepharocheilodontic syndrome' SubClassOf 'autosomal dominant disease' 'blepharocheilodontic syndrome' SubClassOf 'congenital ectropion' 'blepharocheilodontic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'blepharocheilodontic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'blepharocheilodontic syndrome' SubClassOf 'autosomal dominant disease' 'blepharocheilodontic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'blepharocheilodontic syndrome' SubClassOf 'congenital ectropion' http://purl.obolibrary.org/obo/MONDO_0007336 isolated cleft palate 'isolated cleft palate' SubClassOf 'cleft palate' 'isolated cleft palate' SubClassOf 'cleft palate' http://purl.obolibrary.org/obo/MONDO_0007337 cleft palate-lateral synechia syndrome 'cleft palate-lateral synechia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cleft palate-lateral synechia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007334 autosomal dominant popliteal pterygium syndrome 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'popliteal pterygium syndrome' 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'popliteal pterygium syndrome' http://purl.obolibrary.org/obo/MONDO_0007333 van der Woude syndrome 1 'van der Woude syndrome 1' SubClassOf 'van der Woude syndrome' 'van der Woude syndrome 1' SubClassOf 'van der Woude syndrome' http://purl.obolibrary.org/obo/MONDO_0007330 congenital pseudoarthrosis of clavicle 'congenital pseudoarthrosis of clavicle' SubClassOf 'dysostosis' 'congenital pseudoarthrosis of clavicle' SubClassOf 'genetic disorder' 'congenital pseudoarthrosis of clavicle' SubClassOf 'dysostosis' 'congenital pseudoarthrosis of clavicle' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007349 familial cold autoinflammatory syndrome 1 'familial cold autoinflammatory syndrome 1' SubClassOf 'familial cold autoinflammatory syndrome' 'familial cold autoinflammatory syndrome 1' SubClassOf 'familial cold autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0022963 desmoplastic infantile astrocytoma 'desmoplastic infantile astrocytoma' SubClassOf 'mixed neuronal-glial tumor' 'desmoplastic infantile astrocytoma' SubClassOf 'mixed neuronal-glial tumor' http://purl.obolibrary.org/obo/MONDO_0007346 cochleosaccular degeneration-cataract syndrome 'cochleosaccular degeneration-cataract syndrome' SubClassOf 'syndromic disease' 'cochleosaccular degeneration-cataract syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007343 isolated congenital digital clubbing 'isolated congenital digital clubbing' SubClassOf 'disorder of development or morphogenesis' 'isolated congenital digital clubbing' SubClassOf 'inherited isolated nail anomaly' 'isolated congenital digital clubbing' SubClassOf 'disorder of development or morphogenesis' 'isolated congenital digital clubbing' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0007341 cleidorhizomelic syndrome 'cleidorhizomelic syndrome' SubClassOf 'syndromic disease' 'cleidorhizomelic syndrome' SubClassOf 'skeletal dysplasia' 'cleidorhizomelic syndrome' SubClassOf 'syndromic disease' 'cleidorhizomelic syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007342 clubfoot 'clubfoot' SubClassOf 'familial clubfoot with or without associated lower limb anomalies' 'clubfoot' SubClassOf 'non-syndromic limb reduction defect' 'clubfoot' SubClassOf 'familial clubfoot with or without associated lower limb anomalies' 'clubfoot' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0007340 cleidocranial dysplasia 1 'cleidocranial dysplasia 1' SubClassOf 'skeletal dysplasia' 'cleidocranial dysplasia 1' SubClassOf 'osteochondrodysplasia' 'cleidocranial dysplasia 1' SubClassOf 'syndromic disease' 'cleidocranial dysplasia 1' SubClassOf 'skeletal dysplasia' 'cleidocranial dysplasia 1' SubClassOf 'osteochondrodysplasia' 'cleidocranial dysplasia 1' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0022965 desmoplastic infantile ganglioglioma 'desmoplastic infantile ganglioglioma' SubClassOf 'mixed neuronal-glial tumor' 'desmoplastic infantile ganglioglioma' SubClassOf 'mixed neuronal-glial tumor' http://purl.obolibrary.org/obo/MONDO_0007354 coloboma of optic nerve 'coloboma of optic nerve' SubClassOf 'coloboma' 'coloboma of optic nerve' SubClassOf 'visual pathway disorder' 'coloboma of optic nerve' SubClassOf 'coloboma' 'coloboma of optic nerve' SubClassOf 'visual pathway disorder' http://purl.obolibrary.org/obo/MONDO_0007355 uveal coloboma-cleft lip and palate-intellectual disability 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007352 renal coloboma syndrome 'renal coloboma syndrome' SubClassOf 'syndromic disease' 'renal coloboma syndrome' SubClassOf 'autosomal dominant disease' 'renal coloboma syndrome' SubClassOf 'syndromic disease' 'renal coloboma syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007353 coloboma of macula-brachydactyly type B syndrome 'coloboma of macula-brachydactyly type B syndrome' SubClassOf 'hereditary macular dystrophy' 'coloboma of macula-brachydactyly type B syndrome' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0007350 coloboma, ocular, autosomal dominant 'coloboma, ocular, autosomal dominant' SubClassOf 'coloboma' 'coloboma, ocular, autosomal dominant' SubClassOf 'coloboma' http://purl.obolibrary.org/obo/MONDO_0007351 coloboma of macula 'coloboma of macula' SubClassOf 'hereditary macular dystrophy' 'coloboma of macula' SubClassOf 'coloboma' 'coloboma of macula' SubClassOf 'hereditary macular dystrophy' 'coloboma of macula' SubClassOf 'coloboma' http://purl.obolibrary.org/obo/MONDO_0007369 hereditary coproporphyria 'hereditary coproporphyria' SubClassOf 'hepatic porphyria' 'hereditary coproporphyria' SubClassOf 'CPOX-related hereditary coproporphyria' 'hereditary coproporphyria' SubClassOf 'hepatic porphyria' 'hereditary coproporphyria' SubClassOf 'CPOX-related hereditary coproporphyria' http://purl.obolibrary.org/obo/MONDO_0007367 febrile seizures, familial, 1 'febrile seizures, familial, 1' SubClassOf 'febrile seizures, familial' 'febrile seizures, familial, 1' SubClassOf 'febrile seizures, familial' http://purl.obolibrary.org/obo/MONDO_0007368 familial benign copper deficiency 'familial benign copper deficiency' SubClassOf 'disorder of copper metabolism' 'familial benign copper deficiency' SubClassOf 'disorder of copper metabolism' http://purl.obolibrary.org/obo/MONDO_0007363 congenital contractural arachnodactyly 'congenital contractural arachnodactyly' SubClassOf 'arthrogryposis' 'congenital contractural arachnodactyly' SubClassOf 'distal arthrogryposis' 'congenital contractural arachnodactyly' SubClassOf 'Marfan and Marfan-related disorder' 'congenital contractural arachnodactyly' SubClassOf 'arthrogryposis' 'congenital contractural arachnodactyly' SubClassOf 'distal arthrogryposis' 'congenital contractural arachnodactyly' SubClassOf 'Marfan and Marfan-related disorder' http://purl.obolibrary.org/obo/MONDO_0007361 C1 inhibitor deficiency 'C1 inhibitor deficiency' SubClassOf 'classic complement early component deficiency' 'C1 inhibitor deficiency' SubClassOf 'classic complement early component deficiency' http://purl.obolibrary.org/obo/MONDO_0007379 Meesmann corneal dystrophy 'Meesmann corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'Meesmann corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'Meesmann corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'Meesmann corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007376 fleck corneal dystrophy 'fleck corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'fleck corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007377 granular corneal dystrophy type I 'granular corneal dystrophy type I' SubClassOf 'stromal corneal dystrophy' 'granular corneal dystrophy type I' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy 'Schnyder corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'Schnyder corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007375 epithelial basement membrane dystrophy 'epithelial basement membrane dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'epithelial basement membrane dystrophy' SubClassOf 'superficial corneal dystrophy' 'epithelial basement membrane dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'epithelial basement membrane dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007381 epithelial recurrent erosion dystrophy 'epithelial recurrent erosion dystrophy' SubClassOf 'superficial corneal dystrophy' 'epithelial recurrent erosion dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007382 Ramos-Arroyo syndrome 'Ramos-Arroyo syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ramos-Arroyo syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007380 lattice corneal dystrophy type I 'lattice corneal dystrophy type I' SubClassOf 'lattice corneal dystrophy' 'lattice corneal dystrophy type I' SubClassOf 'lattice corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007383 Stern-Lubinsky-Durrie syndrome 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'disorder of visual system' 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'disorder of visual system' 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007384 congenital trigeminal anesthesia 'congenital trigeminal anesthesia' SubClassOf 'hereditary peripheral neuropathy' 'congenital trigeminal anesthesia' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0007392 coxoauricular syndrome 'coxoauricular syndrome' SubClassOf 'bone disease' 'coxoauricular syndrome' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0007399 TWIST1-related craniosynostosis 'TWIST1-related craniosynostosis' SubClassOf 'isolated oxycephaly' 'TWIST1-related craniosynostosis' SubClassOf 'isolated oxycephaly' http://purl.obolibrary.org/obo/MONDO_0007396 dysostosis, Stanescu type 'dysostosis, Stanescu type' SubClassOf 'osteosclerosis' 'dysostosis, Stanescu type' SubClassOf 'osteosclerosis' http://purl.obolibrary.org/obo/MONDO_0007395 craniofacial-deafness-hand syndrome 'craniofacial-deafness-hand syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'craniofacial-deafness-hand syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0003688 well differentiated papillary mesothelioma 'well differentiated papillary mesothelioma' SubClassOf 'mesothelioma' 'well differentiated papillary mesothelioma' SubClassOf 'mesothelioma' http://purl.obolibrary.org/obo/MONDO_0003684 clear cell chondrosarcoma 'clear cell chondrosarcoma' SubClassOf 'bone sarcoma' 'clear cell chondrosarcoma' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0003686 apocrine sweat gland neoplasm 'apocrine sweat gland neoplasm' SubClassOf 'sweat gland neoplasm' 'apocrine sweat gland neoplasm' SubClassOf 'sweat gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0003687 endocardium cancer 'endocardium cancer' SubClassOf 'heart cancer' 'endocardium cancer' SubClassOf 'neoplasm of endocardium' 'endocardium cancer' SubClassOf 'heart cancer' 'endocardium cancer' SubClassOf 'neoplasm of endocardium' http://purl.obolibrary.org/obo/MONDO_0003680 periosteal chondrosarcoma 'periosteal chondrosarcoma' SubClassOf 'bone sarcoma' 'periosteal chondrosarcoma' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0003681 myxoid chondrosarcoma 'myxoid chondrosarcoma' SubClassOf 'chondrosarcoma' 'myxoid chondrosarcoma' SubClassOf 'chondrosarcoma' http://purl.obolibrary.org/obo/MONDO_0013003 isolated congenital hypoglossia/aglossia 'isolated congenital hypoglossia/aglossia' SubClassOf 'tongue disorder' 'isolated congenital hypoglossia/aglossia' SubClassOf 'oromandibular-limb hypogenesis syndrome' 'isolated congenital hypoglossia/aglossia' SubClassOf 'tongue disorder' 'isolated congenital hypoglossia/aglossia' SubClassOf 'oromandibular-limb hypogenesis syndrome' http://purl.obolibrary.org/obo/MONDO_0013007 combined immunodeficiency due to ORAI1 deficiency 'combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' 'combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency 'combined immunodeficiency due to STIM1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' 'combined immunodeficiency due to STIM1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' http://purl.obolibrary.org/obo/MONDO_0013005 EAST syndrome 'EAST syndrome' SubClassOf 'inherited renal tubular disease' 'EAST syndrome' SubClassOf 'hereditary ataxia' 'EAST syndrome' SubClassOf 'inherited renal tubular disease' 'EAST syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0013006 isolated growth hormone deficiency type IB 'isolated growth hormone deficiency type IB' SubClassOf 'isolated congenital growth hormone deficiency' 'isolated growth hormone deficiency type IB' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0013000 porphyria due to ALA dehydratase deficiency 'porphyria due to ALA dehydratase deficiency' SubClassOf 'hepatic porphyria' 'porphyria due to ALA dehydratase deficiency' SubClassOf 'hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0003697 non-invasive verrucous carcinoma of the penis 'non-invasive verrucous carcinoma of the penis' SubClassOf 'penis verrucous carcinoma' 'non-invasive verrucous carcinoma of the penis' SubClassOf 'penis verrucous carcinoma' http://purl.obolibrary.org/obo/MONDO_0003698 penis verrucous carcinoma 'penis verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'penis verrucous carcinoma' SubClassOf 'verrucous carcinoma' http://purl.obolibrary.org/obo/MONDO_0003691 childhood malignant mesenchymoma 'childhood malignant mesenchymoma' SubClassOf 'malignant mesenchymoma' 'childhood malignant mesenchymoma' SubClassOf 'malignant mesenchymoma' http://purl.obolibrary.org/obo/MONDO_0003692 adult malignant mesenchymoma 'adult malignant mesenchymoma' SubClassOf 'malignant mesenchymoma' 'adult malignant mesenchymoma' SubClassOf 'malignant mesenchymoma' http://purl.obolibrary.org/obo/MONDO_0003690 adult anaplastic ependymoma 'adult anaplastic ependymoma' SubClassOf 'anaplastic ependymoma' 'adult anaplastic ependymoma' SubClassOf 'anaplastic ependymoma' http://purl.obolibrary.org/obo/MONDO_0013014 spondyloepimetaphyseal dysplasia, aggrecan type 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013016 leukocyte adhesion deficiency 3 'leukocyte adhesion deficiency 3' SubClassOf 'leukocyte adhesion deficiency' 'leukocyte adhesion deficiency 3' SubClassOf 'leukocyte adhesion deficiency' http://purl.obolibrary.org/obo/MONDO_0013017 hypotrichosis 5 'hypotrichosis 5' SubClassOf 'Marie Unna hereditary hypotrichosis' 'hypotrichosis 5' SubClassOf 'Marie Unna hereditary hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0013011 atrial septal defect 5 'atrial septal defect 5' SubClassOf 'atrial heart septal defect' 'atrial septal defect 5' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0013025 chromosome 6q24-q25 deletion syndrome 'chromosome 6q24-q25 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' 'chromosome 6q24-q25 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0013026 subepithelial mucinous corneal dystrophy 'subepithelial mucinous corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'subepithelial mucinous corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'subepithelial mucinous corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'subepithelial mucinous corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0013027 posterior amorphous corneal dystrophy 'posterior amorphous corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'posterior amorphous corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0013028 adenosine monophosphate deaminase deficiency 'adenosine monophosphate deaminase deficiency' SubClassOf 'inborn mitochondrial myopathy' 'adenosine monophosphate deaminase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'adenosine monophosphate deaminase deficiency' SubClassOf 'inborn mitochondrial myopathy' 'adenosine monophosphate deaminase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0013021 sterile multifocal osteomyelitis with periostitis and pustulosis 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'chronic recurrent multifocal osteomyelitis' 'sterile multifocal osteomyelitis with periostitis and pustulosis' SubClassOf 'chronic recurrent multifocal osteomyelitis' http://purl.obolibrary.org/obo/MONDO_0013036 Zechi-Ceide syndrome 'Zechi-Ceide syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Zechi-Ceide syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0037003 malignant phyllodes tumor 'malignant phyllodes tumor' SubClassOf 'phyllodes tumor' 'malignant phyllodes tumor' SubClassOf 'Malignant Mixed Neoplasm' 'malignant phyllodes tumor' SubClassOf 'phyllodes tumor' 'malignant phyllodes tumor' SubClassOf 'Malignant Mixed Neoplasm' http://purl.obolibrary.org/obo/MONDO_0013034 keratosis palmoplantaris striata 2 'keratosis palmoplantaris striata 2' SubClassOf 'striate palmoplantar keratoderma' 'keratosis palmoplantaris striata 2' SubClassOf 'striate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0013035 orofaciodigital syndrome XI 'orofaciodigital syndrome XI' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome XI' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0013038 CLOVES syndrome 'CLOVES syndrome' SubClassOf 'subcutaneous tissue disorder' 'CLOVES syndrome' SubClassOf 'syndromic disease' 'CLOVES syndrome' SubClassOf 'melanocytic nevus' 'CLOVES syndrome' SubClassOf 'syndromic disease' 'CLOVES syndrome' SubClassOf 'subcutaneous tissue disorder' 'CLOVES syndrome' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0013032 epilepsy, idiopathic generalized, susceptibility to, 8 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf 'inherited disease susceptibility' 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf 'inherited disease susceptibility' 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0013030 dilated cardiomyopathy 1BB 'dilated cardiomyopathy 1BB' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1BB' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0037002 benign phyllodes tumor 'benign phyllodes tumor' SubClassOf 'phyllodes tumor' 'benign phyllodes tumor' SubClassOf 'phyllodes tumor' http://purl.obolibrary.org/obo/MONDO_0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'disorder of glycolysis' 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'disorder of glycolysis' 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0013046 glycogen storage disease due to muscle beta-enolase deficiency 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disorder of glycolysis' 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disorder of glycolysis' 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0013049 DPM3-congenital disorder of glycosylation 'DPM3-congenital disorder of glycosylation' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'DPM3-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'DPM3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'DPM3-congenital disorder of glycosylation' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'DPM3-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'DPM3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0013040 atypical hemolytic-uremic syndrome with MCP/CD46 anomaly 'atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'atypical hemolytic uremic syndrome with complement gene abnormality' 'atypical hemolytic-uremic syndrome with MCP/CD46 anomaly' SubClassOf 'atypical hemolytic uremic syndrome with complement gene abnormality' http://purl.obolibrary.org/obo/MONDO_0013043 atypical hemolytic-uremic syndrome with C3 anomaly 'atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'atypical hemolytic uremic syndrome with complement gene abnormality' 'atypical hemolytic-uremic syndrome with C3 anomaly' SubClassOf 'atypical hemolytic uremic syndrome with complement gene abnormality' http://purl.obolibrary.org/obo/MONDO_0013044 atypical hemolytic-uremic syndrome with thrombomodulin anomaly 'atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'atypical hemolytic uremic syndrome with complement gene abnormality' 'atypical hemolytic-uremic syndrome with thrombomodulin anomaly' SubClassOf 'atypical hemolytic uremic syndrome with complement gene abnormality' http://purl.obolibrary.org/obo/MONDO_0013041 atypical hemolytic-uremic syndrome with I factor anomaly 'atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'atypical hemolytic uremic syndrome with complement gene abnormality' 'atypical hemolytic-uremic syndrome with I factor anomaly' SubClassOf 'atypical hemolytic uremic syndrome with complement gene abnormality' http://purl.obolibrary.org/obo/MONDO_0013042 atypical hemolytic-uremic syndrome with B factor anomaly 'atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'atypical hemolytic uremic syndrome with complement gene abnormality' 'atypical hemolytic-uremic syndrome with B factor anomaly' SubClassOf 'atypical hemolytic uremic syndrome with complement gene abnormality' http://purl.obolibrary.org/obo/MONDO_0013058 cystic leukoencephalopathy without megalencephaly 'cystic leukoencephalopathy without megalencephaly' SubClassOf 'leukodystrophy' 'cystic leukoencephalopathy without megalencephaly' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0013056 developmental and epileptic encephalopathy, 39 'developmental and epileptic encephalopathy, 39' SubClassOf 'mitochondrial substrate carrier disorder' 'developmental and epileptic encephalopathy, 39' SubClassOf 'mitochondrial substrate carrier disorder' http://purl.obolibrary.org/obo/MONDO_0013050 lethal polymalformative syndrome, Boissel type 'lethal polymalformative syndrome, Boissel type' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' 'lethal polymalformative syndrome, Boissel type' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0013051 autosomal recessive cutis laxa type 2B 'autosomal recessive cutis laxa type 2B' SubClassOf 'autosomal recessive cutis laxa type 2' 'autosomal recessive cutis laxa type 2B' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'autosomal recessive cutis laxa type 2B' SubClassOf 'autosomal recessive cutis laxa type 2' 'autosomal recessive cutis laxa type 2B' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'heart disease' 'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0013069 autosomal recessive optic atrophy, OPA7 type 'autosomal recessive optic atrophy, OPA7 type' SubClassOf 'hereditary optic atrophy' 'autosomal recessive optic atrophy, OPA7 type' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0013067 cataract 34 multiple types 'cataract 34 multiple types' SubClassOf 'cataract' 'cataract 34 multiple types' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0013061 myofibrillar myopathy 6 'myofibrillar myopathy 6' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 6' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0013062 long QT syndrome 12 'long QT syndrome 12' SubClassOf 'familial long QT syndrome' 'long QT syndrome 12' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0013060 autosomal recessive Parkinson disease 14 'autosomal recessive Parkinson disease 14' SubClassOf 'late-onset Parkinson disease' 'autosomal recessive Parkinson disease 14' SubClassOf 'PLA2G6-associated neurodegeneration' 'autosomal recessive Parkinson disease 14' SubClassOf 'late-onset Parkinson disease' 'autosomal recessive Parkinson disease 14' SubClassOf 'PLA2G6-associated neurodegeneration' http://purl.obolibrary.org/obo/MONDO_0013065 premature ovarian failure 7 'premature ovarian failure 7' SubClassOf 'inherited primary ovarian failure' 'premature ovarian failure 7' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0013066 46,XY sex reversal 3 '46,XY sex reversal 3' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 3' SubClassOf '46,XY partial gonadal dysgenesis' '46,XY sex reversal 3' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 3' SubClassOf '46,XY partial gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0013070 spermatogenic failure 7 'spermatogenic failure 7' SubClassOf 'azoospermia' 'spermatogenic failure 7' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0013071 Emery-Dreifuss muscular dystrophy 4, autosomal dominant 'Emery-Dreifuss muscular dystrophy 4, autosomal dominant' SubClassOf 'autosomal dominant Emery-Dreifuss muscular dystrophy' 'Emery-Dreifuss muscular dystrophy 4, autosomal dominant' SubClassOf 'autosomal dominant Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0013074 encephalocraniocutaneous lipomatosis 'encephalocraniocutaneous lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'encephalocraniocutaneous lipomatosis' SubClassOf 'lipomatosis' 'encephalocraniocutaneous lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'encephalocraniocutaneous lipomatosis' SubClassOf 'lipomatosis' http://purl.obolibrary.org/obo/MONDO_0013090 chromosome 19q13.11 deletion syndrome 'chromosome 19q13.11 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 19q13.11 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 19' 'chromosome 19q13.11 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 19q13.11 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 'neuroblastoma, susceptibility to, 3' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0013081 lymphoproliferative syndrome 1 'lymphoproliferative syndrome 1' SubClassOf 'lymphoproliferative syndrome' 'lymphoproliferative syndrome 1' SubClassOf 'immunodeficiency disease' 'lymphoproliferative syndrome 1' SubClassOf 'lymphoproliferative syndrome' 'lymphoproliferative syndrome 1' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0013082 Hirschsprung disease-ganglioneuroblastoma syndrome 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'syndromic disease' 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'intestinal motility disease' 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'syndromic disease' 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0013088 follicular lymphoma, susceptibility to, 1 'follicular lymphoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'follicular lymphoma' 'follicular lymphoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'follicular lymphoma' http://purl.obolibrary.org/obo/MONDO_0013092 glioma susceptibility 2 'glioma susceptibility 2' SubClassOf 'glioma susceptibility' 'glioma susceptibility 2' SubClassOf 'glioma susceptibility' http://purl.obolibrary.org/obo/MONDO_0013099 combined pituitary hormone deficiencies, genetic form 'combined pituitary hormone deficiencies, genetic form' SubClassOf 'congenital hypogonadotropic hypogonadism' 'combined pituitary hormone deficiencies, genetic form' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0003700 brachial plexus neoplasm 'brachial plexus neoplasm' SubClassOf 'nerve plexus neoplasm' 'brachial plexus neoplasm' SubClassOf 'nerve plexus neoplasm' http://purl.obolibrary.org/obo/MONDO_0003704 uterine corpus diffuse leiomyomatosis 'uterine corpus diffuse leiomyomatosis' SubClassOf 'leiomyomatosis' 'uterine corpus diffuse leiomyomatosis' SubClassOf 'leiomyomatosis' http://purl.obolibrary.org/obo/MONDO_0003710 ovarian mixed germ cell neoplasm 'ovarian mixed germ cell neoplasm' SubClassOf 'mixed germ cell tumor' 'ovarian mixed germ cell neoplasm' SubClassOf 'ovarian primitive germ cell tumor' 'ovarian mixed germ cell neoplasm' SubClassOf 'mixed germ cell tumor' 'ovarian mixed germ cell neoplasm' SubClassOf 'ovarian primitive germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm 'renal pelvis neoplasm' SubClassOf 'kidney neoplasm' 'renal pelvis neoplasm' SubClassOf 'kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0003714 bladder urachal squamous cell carcinoma 'bladder urachal squamous cell carcinoma' SubClassOf 'Bladder Squamous Cell Carcinoma' 'bladder urachal squamous cell carcinoma' SubClassOf 'bladder urachal carcinoma' 'bladder urachal squamous cell carcinoma' SubClassOf 'Bladder Squamous Cell Carcinoma' 'bladder urachal squamous cell carcinoma' SubClassOf 'bladder urachal carcinoma' http://purl.obolibrary.org/obo/MONDO_0003715 bladder urachal carcinoma 'bladder urachal carcinoma' SubClassOf 'urinary bladder carcinoma' 'bladder urachal carcinoma' SubClassOf 'urinary bladder carcinoma' http://purl.obolibrary.org/obo/MONDO_0003716 renal pelvis papillary urothelial carcinoma 'renal pelvis papillary urothelial carcinoma' SubClassOf 'transitional cell carcinoma of kidney' 'renal pelvis papillary urothelial carcinoma' SubClassOf 'renal pelvis papillary tumor' 'renal pelvis papillary urothelial carcinoma' SubClassOf 'Papillary Transitional Cell Carcinoma' 'renal pelvis papillary urothelial carcinoma' SubClassOf 'transitional cell carcinoma of kidney' 'renal pelvis papillary urothelial carcinoma' SubClassOf 'renal pelvis papillary tumor' 'renal pelvis papillary urothelial carcinoma' SubClassOf 'Papillary Transitional Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003717 renal pelvis papillary tumor 'renal pelvis papillary tumor' SubClassOf 'papillary urothelial neoplasm' 'renal pelvis papillary tumor' SubClassOf 'renal pelvis neoplasm' 'renal pelvis papillary tumor' SubClassOf 'papillary urothelial neoplasm' 'renal pelvis papillary tumor' SubClassOf 'renal pelvis neoplasm' http://purl.obolibrary.org/obo/MONDO_0003721 kidney osteogenic sarcoma 'kidney osteogenic sarcoma' SubClassOf 'kidney sarcoma' 'kidney osteogenic sarcoma' SubClassOf 'extraosseous osteosarcoma' 'kidney osteogenic sarcoma' SubClassOf 'kidney sarcoma' 'kidney osteogenic sarcoma' SubClassOf 'extraosseous osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0003724 non-proliferative fibrocystic change of the breast 'non-proliferative fibrocystic change of the breast' SubClassOf 'breast fibrocystic disease' 'non-proliferative fibrocystic change of the breast' SubClassOf 'breast fibrocystic disease' http://purl.obolibrary.org/obo/MONDO_0003720 kidney fibrosarcoma 'kidney fibrosarcoma' SubClassOf 'kidney sarcoma' 'kidney fibrosarcoma' SubClassOf 'fibrosarcoma' 'kidney fibrosarcoma' SubClassOf 'kidney sarcoma' 'kidney fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0003728 breast fibrosarcoma 'breast fibrosarcoma' SubClassOf 'fibrosarcoma' 'breast fibrosarcoma' SubClassOf 'breast sarcoma' 'breast fibrosarcoma' SubClassOf 'fibrosarcoma' 'breast fibrosarcoma' SubClassOf 'breast sarcoma' http://purl.obolibrary.org/obo/MONDO_0003734 adult central nervous system immature teratoma 'adult central nervous system immature teratoma' EquivalentTo 'adult central nervous system teratoma' and 'central nervous system immature teratoma' 'adult central nervous system immature teratoma' SubClassOf 'adult central nervous system teratoma' 'adult central nervous system immature teratoma' SubClassOf 'central nervous system immature teratoma' 'adult central nervous system immature teratoma' EquivalentTo 'adult central nervous system teratoma' and 'central nervous system immature teratoma' 'adult central nervous system immature teratoma' SubClassOf 'adult central nervous system teratoma' 'adult central nervous system immature teratoma' SubClassOf 'central nervous system immature teratoma' http://purl.obolibrary.org/obo/MONDO_0003735 central nervous system immature teratoma 'central nervous system immature teratoma' SubClassOf 'central nervous system teratoma' 'central nervous system immature teratoma' SubClassOf 'central nervous system teratoma' http://purl.obolibrary.org/obo/MONDO_0003731 adult central nervous system teratoma 'adult central nervous system teratoma' SubClassOf 'adult central nervous system germ cell tumor' 'adult central nervous system teratoma' SubClassOf 'central nervous system teratoma' 'adult central nervous system teratoma' SubClassOf 'adult teratoma' 'adult central nervous system teratoma' SubClassOf 'adult central nervous system germ cell tumor' 'adult central nervous system teratoma' SubClassOf 'central nervous system teratoma' 'adult central nervous system teratoma' SubClassOf 'adult teratoma' http://purl.obolibrary.org/obo/MONDO_0003737 malignant testicular Leydig cell tumor 'malignant testicular Leydig cell tumor' SubClassOf 'malignant Leydig cell tumor' 'malignant testicular Leydig cell tumor' SubClassOf 'testicular Leydig cell tumor' 'malignant testicular Leydig cell tumor' SubClassOf 'malignant Leydig cell tumor' 'malignant testicular Leydig cell tumor' SubClassOf 'testicular Leydig cell tumor' http://purl.obolibrary.org/obo/MONDO_0003739 selective immunoglobulin deficiency disease 'selective immunoglobulin deficiency disease' SubClassOf 'B cell deficiency' 'selective immunoglobulin deficiency disease' SubClassOf 'B cell deficiency' http://purl.obolibrary.org/obo/MONDO_0003743 heart malignant hemangiopericytoma 'heart malignant hemangiopericytoma' SubClassOf 'hemangiopericytoma' 'heart malignant hemangiopericytoma' SubClassOf 'hemangiopericytoma' http://purl.obolibrary.org/obo/MONDO_0003744 spindle cell intraocular melanoma 'spindle cell intraocular melanoma' SubClassOf 'Spindle Cell Melanoma' 'spindle cell intraocular melanoma' SubClassOf 'Uveal Melanoma' 'spindle cell intraocular melanoma' SubClassOf 'Spindle Cell Melanoma' 'spindle cell intraocular melanoma' SubClassOf 'Uveal Melanoma' http://purl.obolibrary.org/obo/MONDO_0003745 choroid spindle cell melanoma 'choroid spindle cell melanoma' SubClassOf 'malignant choroid melanoma' 'choroid spindle cell melanoma' SubClassOf 'malignant choroid melanoma' http://purl.obolibrary.org/obo/MONDO_0003746 ciliary body spindle cell melanoma 'ciliary body spindle cell melanoma' SubClassOf 'iris spindle cell melanoma' 'ciliary body spindle cell melanoma' SubClassOf 'malignant ciliary body melanoma' 'ciliary body spindle cell melanoma' SubClassOf 'iris spindle cell melanoma' 'ciliary body spindle cell melanoma' SubClassOf 'malignant ciliary body melanoma' http://purl.obolibrary.org/obo/MONDO_0003741 juvenile type testicular granulosa cell tumor 'juvenile type testicular granulosa cell tumor' SubClassOf 'testicular granulosa cell tumor' 'juvenile type testicular granulosa cell tumor' SubClassOf 'testicular granulosa cell tumor' http://purl.obolibrary.org/obo/MONDO_0003742 heart fibrosarcoma 'heart fibrosarcoma' SubClassOf 'heart sarcoma' 'heart fibrosarcoma' SubClassOf 'fibrosarcoma' 'heart fibrosarcoma' SubClassOf 'heart sarcoma' 'heart fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0003755 urinary tract non-invasive transitional cell neoplasm 'urinary tract non-invasive transitional cell neoplasm' SubClassOf 'urothelial neoplasm' 'urinary tract non-invasive transitional cell neoplasm' SubClassOf 'urothelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0003756 ovarian mucinous neoplasm 'ovarian mucinous neoplasm' SubClassOf 'ovarian epithelial tumor' 'ovarian mucinous neoplasm' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0003750 childhood central nervous system germ cell tumor 'childhood central nervous system germ cell tumor' SubClassOf 'central nervous system germ cell tumor' 'childhood central nervous system germ cell tumor' SubClassOf 'childhood germ cell tumor' 'childhood central nervous system germ cell tumor' SubClassOf 'central nervous system germ cell tumor' 'childhood central nervous system germ cell tumor' SubClassOf 'childhood germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003751 childhood germ cell tumor 'childhood germ cell tumor' SubClassOf 'germ cell tumor' 'childhood germ cell tumor' SubClassOf 'childhood neoplasm' 'childhood germ cell tumor' SubClassOf 'germ cell tumor' 'childhood germ cell tumor' SubClassOf 'childhood neoplasm' http://purl.obolibrary.org/obo/MONDO_0003758 childhood testicular germ cell tumor 'childhood testicular germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' 'childhood testicular germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0003759 childhood ovarian yolk sac tumor 'childhood ovarian yolk sac tumor' SubClassOf 'Ovarian Yolk Sac Tumor' 'childhood ovarian yolk sac tumor' SubClassOf 'childhood endodermal sinus tumor' 'childhood ovarian yolk sac tumor' SubClassOf 'Ovarian Yolk Sac Tumor' 'childhood ovarian yolk sac tumor' SubClassOf 'childhood endodermal sinus tumor' http://purl.obolibrary.org/obo/MONDO_0003766 thalamic cancer 'thalamic cancer' SubClassOf 'diencephalic cancer' 'thalamic cancer' SubClassOf 'diencephalic cancer' http://purl.obolibrary.org/obo/MONDO_0003761 leptomeningeal melanoma 'leptomeningeal melanoma' SubClassOf 'primary melanoma of the central nervous system' 'leptomeningeal melanoma' SubClassOf 'malignant leptomeningeal tumor' 'leptomeningeal melanoma' SubClassOf 'primary melanoma of the central nervous system' 'leptomeningeal melanoma' SubClassOf 'malignant leptomeningeal tumor' http://purl.obolibrary.org/obo/MONDO_0003762 malignant leptomeningeal tumor 'malignant leptomeningeal tumor' SubClassOf 'meningioma' 'malignant leptomeningeal tumor' SubClassOf 'malignant tumor of meninges' 'malignant leptomeningeal tumor' SubClassOf 'meningioma' 'malignant leptomeningeal tumor' SubClassOf 'malignant tumor of meninges' http://purl.obolibrary.org/obo/MONDO_0003764 pediatric leptomeningeal melanoma 'pediatric leptomeningeal melanoma' SubClassOf 'leptomeningeal melanoma' 'pediatric leptomeningeal melanoma' SubClassOf 'leptomeningeal melanoma' http://purl.obolibrary.org/obo/MONDO_0003760 pediatric ovarian germ cell tumor 'pediatric ovarian germ cell tumor' SubClassOf 'Ovarian Germ Cell Tumor' 'pediatric ovarian germ cell tumor' SubClassOf 'Ovarian Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0003769 herpetic gastritis 'herpetic gastritis' SubClassOf 'viral gastritis' 'herpetic gastritis' SubClassOf 'viral gastritis' http://purl.obolibrary.org/obo/MONDO_0003776 renal pelvis inverted papilloma 'renal pelvis inverted papilloma' SubClassOf 'inverted urothelial papilloma' 'renal pelvis inverted papilloma' SubClassOf 'renal pelvis urothelial papilloma' 'renal pelvis inverted papilloma' SubClassOf 'inverted urothelial papilloma' 'renal pelvis inverted papilloma' SubClassOf 'renal pelvis urothelial papilloma' http://purl.obolibrary.org/obo/MONDO_0003777 renal pelvis urothelial papilloma 'renal pelvis urothelial papilloma' SubClassOf 'renal pelvis papillary tumor' 'renal pelvis urothelial papilloma' SubClassOf 'urothelial papilloma' 'renal pelvis urothelial papilloma' SubClassOf 'benign neoplasm of renal pelvis' 'renal pelvis urothelial papilloma' SubClassOf 'renal pelvis papillary tumor' 'renal pelvis urothelial papilloma' SubClassOf 'urothelial papilloma' 'renal pelvis urothelial papilloma' SubClassOf 'benign neoplasm of renal pelvis' http://purl.obolibrary.org/obo/MONDO_0003778 inborn error of immunity 'inborn error of immunity' SubClassOf 'immune deficiency disease' 'inborn error of immunity' SubClassOf 'immune deficiency disease' http://purl.obolibrary.org/obo/MONDO_0003772 cerebral meningioma 'cerebral meningioma' SubClassOf 'cerebral hemisphere cancer' 'cerebral meningioma' SubClassOf 'intracranial meningioma' 'cerebral meningioma' SubClassOf 'cerebral hemisphere cancer' 'cerebral meningioma' SubClassOf 'intracranial meningioma' http://purl.obolibrary.org/obo/MONDO_0027749 serpinopathy 'serpinopathy' SubClassOf 'genetic disorder' 'serpinopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0003787 childhood testicular mixed germ cell cancer 'childhood testicular mixed germ cell cancer' SubClassOf 'mixed testicular germ cell cancer' 'childhood testicular mixed germ cell cancer' SubClassOf 'mixed testicular germ cell cancer' http://purl.obolibrary.org/obo/MONDO_0003788 childhood embryonal testis carcinoma 'childhood embryonal testis carcinoma' SubClassOf 'Testicular Embryonal Carcinoma' 'childhood embryonal testis carcinoma' SubClassOf 'Testicular Embryonal Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003789 hereditary papillary renal cell carcinoma 'hereditary papillary renal cell carcinoma' SubClassOf 'papillary renal cell carcinoma' 'hereditary papillary renal cell carcinoma' SubClassOf 'hereditary renal cell carcinoma' 'hereditary papillary renal cell carcinoma' SubClassOf 'papillary renal cell carcinoma' 'hereditary papillary renal cell carcinoma' SubClassOf 'hereditary renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003784 nasal cavity carcinoma in situ 'nasal cavity carcinoma in situ' SubClassOf 'nasal cavity carcinoma' 'nasal cavity carcinoma in situ' SubClassOf 'in situ carcinoma' 'nasal cavity carcinoma in situ' SubClassOf 'nasal cavity carcinoma' 'nasal cavity carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0003786 childhood testicular choriocarcinoma 'childhood testicular choriocarcinoma' SubClassOf 'Testicular Choriocarcinoma' 'childhood testicular choriocarcinoma' SubClassOf 'Testicular Choriocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003780 T-cell immunodeficiency 'T-cell immunodeficiency' SubClassOf 'immunodeficiency disease' 'T-cell immunodeficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0003558 adenosquamous prostate carcinoma 'adenosquamous prostate carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'adenosquamous prostate carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003553 ampulla of vater adenosquamous carcinoma 'ampulla of vater adenosquamous carcinoma' SubClassOf 'ampulla of vater squamous cell carcinoma' 'ampulla of vater adenosquamous carcinoma' SubClassOf 'ampulla of vater squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003554 adenosquamous colon carcinoma 'adenosquamous colon carcinoma' SubClassOf 'Colorectal Adenosquamous Carcinoma' 'adenosquamous colon carcinoma' SubClassOf 'Colorectal Adenosquamous Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003555 Bartholin gland adenosquamous carcinoma 'Bartholin gland adenosquamous carcinoma' SubClassOf 'Bartholin Gland Squamous Cell Carcinoma' 'Bartholin gland adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'Bartholin gland adenosquamous carcinoma' SubClassOf 'Bartholin Gland Squamous Cell Carcinoma' 'Bartholin gland adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003550 esophageal adenosquamous carcinoma 'esophageal adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'esophageal adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003551 thymic adenosquamous carcinoma 'thymic adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'thymic adenosquamous carcinoma' SubClassOf 'Thymic Squamous Cell Carcinoma' 'thymic adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'thymic adenosquamous carcinoma' SubClassOf 'Thymic Squamous Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003569 cranial nerve neuropathy 'cranial nerve neuropathy' SubClassOf 'nervous system disease' 'cranial nerve neuropathy' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0003565 urethral villous adenoma 'urethral villous adenoma' SubClassOf 'urethral neoplasm' 'urethral villous adenoma' SubClassOf 'villous adenoma' 'urethral villous adenoma' SubClassOf 'urethral neoplasm' 'urethral villous adenoma' SubClassOf 'villous adenoma' http://purl.obolibrary.org/obo/MONDO_0003561 malignant giant cell tumor of soft parts 'malignant giant cell tumor of soft parts' SubClassOf 'undifferentiated pleomorphic sarcoma' 'malignant giant cell tumor of soft parts' SubClassOf 'malignant giant cell tumor' 'malignant giant cell tumor of soft parts' SubClassOf 'undifferentiated pleomorphic sarcoma' 'malignant giant cell tumor of soft parts' SubClassOf 'malignant giant cell tumor' http://purl.obolibrary.org/obo/MONDO_0003578 extragonadal nonseminomatous germ cell tumor 'extragonadal nonseminomatous germ cell tumor' EquivalentTo 'extragonadal germ cell cancer' and 'nongerminomatous germ cell tumor' 'extragonadal nonseminomatous germ cell tumor' SubClassOf 'extragonadal germ cell cancer' 'extragonadal nonseminomatous germ cell tumor' EquivalentTo 'extragonadal germ cell cancer' and 'nongerminomatous germ cell tumor' 'extragonadal nonseminomatous germ cell tumor' SubClassOf 'extragonadal germ cell cancer' http://purl.obolibrary.org/obo/MONDO_0003574 external ear cancer 'external ear cancer' SubClassOf 'external ear neoplasm' 'external ear cancer' SubClassOf 'malignant ear neoplasm' 'external ear cancer' SubClassOf 'external ear neoplasm' 'external ear cancer' SubClassOf 'malignant ear neoplasm' http://purl.obolibrary.org/obo/MONDO_0003572 nasopharyngeal type undifferentiated carcinoma 'nasopharyngeal type undifferentiated carcinoma' SubClassOf 'large cell carcinoma' 'nasopharyngeal type undifferentiated carcinoma' SubClassOf 'large cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003589 liposarcoma of the ovary 'liposarcoma of the ovary' SubClassOf 'ovarian sarcoma' 'liposarcoma of the ovary' SubClassOf 'liposarcoma' 'liposarcoma of the ovary' SubClassOf 'ovarian sarcoma' 'liposarcoma of the ovary' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003585 adult liposarcoma 'adult liposarcoma' SubClassOf 'liposarcoma' 'adult liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003586 esophagus liposarcoma 'esophagus liposarcoma' SubClassOf 'esophagus sarcoma' 'esophagus liposarcoma' SubClassOf 'liposarcoma' 'esophagus liposarcoma' SubClassOf 'esophagus sarcoma' 'esophagus liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003587 pediatric liposarcoma 'pediatric liposarcoma' SubClassOf 'liposarcoma' 'pediatric liposarcoma' SubClassOf 'childhood cancer' 'pediatric liposarcoma' SubClassOf 'liposarcoma' 'pediatric liposarcoma' SubClassOf 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0003588 larynx liposarcoma 'larynx liposarcoma' SubClassOf 'laryngeal sarcoma' 'larynx liposarcoma' SubClassOf 'liposarcoma' 'larynx liposarcoma' SubClassOf 'laryngeal sarcoma' 'larynx liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome 'hereditary breast ovarian cancer syndrome' SubClassOf 'autosomal dominant disease' 'hereditary breast ovarian cancer syndrome' SubClassOf 'hereditary neoplastic syndrome' 'hereditary breast ovarian cancer syndrome' SubClassOf 'autosomal dominant disease' 'hereditary breast ovarian cancer syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0003596 spindle cell liposarcoma 'spindle cell liposarcoma' SubClassOf 'well-differentiated liposarcoma' 'spindle cell liposarcoma' SubClassOf 'well-differentiated liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003599 vulvar liposarcoma 'vulvar liposarcoma' SubClassOf 'liposarcoma' 'vulvar liposarcoma' SubClassOf 'vulva sarcoma' 'vulvar liposarcoma' SubClassOf 'liposarcoma' 'vulvar liposarcoma' SubClassOf 'vulva sarcoma' http://purl.obolibrary.org/obo/MONDO_0003592 gastric liposarcoma 'gastric liposarcoma' SubClassOf 'liposarcoma' 'gastric liposarcoma' SubClassOf 'gastric cancer' 'gastric liposarcoma' SubClassOf 'liposarcoma' 'gastric liposarcoma' SubClassOf 'gastric cancer' http://purl.obolibrary.org/obo/MONDO_0003593 breast liposarcoma 'breast liposarcoma' SubClassOf 'liposarcoma' 'breast liposarcoma' SubClassOf 'breast sarcoma' 'breast liposarcoma' SubClassOf 'liposarcoma' 'breast liposarcoma' SubClassOf 'breast sarcoma' http://purl.obolibrary.org/obo/MONDO_0003594 mixed liposarcoma 'mixed liposarcoma' SubClassOf 'liposarcoma' 'mixed liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003591 kidney liposarcoma 'kidney liposarcoma' SubClassOf 'kidney sarcoma' 'kidney liposarcoma' SubClassOf 'liposarcoma' 'kidney liposarcoma' SubClassOf 'kidney sarcoma' 'kidney liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003600 cutaneous liposarcoma 'cutaneous liposarcoma' SubClassOf 'liposarcoma' 'cutaneous liposarcoma' SubClassOf 'Skin Sarcoma' 'cutaneous liposarcoma' SubClassOf 'liposarcoma' 'cutaneous liposarcoma' SubClassOf 'Skin Sarcoma' http://purl.obolibrary.org/obo/MONDO_0003601 mediastinum liposarcoma 'mediastinum liposarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinum liposarcoma' SubClassOf 'liposarcoma' 'mediastinum liposarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinum liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003603 non-functioning pituitary gland neoplasm 'non-functioning pituitary gland neoplasm' SubClassOf 'non-functioning endocrine neoplasm' 'non-functioning pituitary gland neoplasm' SubClassOf 'non-functioning endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0003608 optic atrophy 'optic atrophy' SubClassOf 'optic nerve disorder' 'optic atrophy' SubClassOf 'optic nerve disorder' http://purl.obolibrary.org/obo/MONDO_0003604 functioning pituitary gland neoplasm 'functioning pituitary gland neoplasm' SubClassOf 'functioning endocrine neoplasm' 'functioning pituitary gland neoplasm' SubClassOf 'functioning endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0003606 adrenal medulla cancer 'adrenal medulla cancer' SubClassOf 'adrenal gland cancer' 'adrenal medulla cancer' SubClassOf 'adrenal medulla neoplasm' 'adrenal medulla cancer' SubClassOf 'adrenal gland cancer' 'adrenal medulla cancer' SubClassOf 'adrenal medulla neoplasm' http://purl.obolibrary.org/obo/MONDO_0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease 'uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease' SubClassOf 'uterine ligament neoplasm' 'uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease' SubClassOf 'papillary cystadenoma' 'uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease' SubClassOf 'uterine ligament neoplasm' 'uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease' SubClassOf 'papillary cystadenoma' http://purl.obolibrary.org/obo/MONDO_0003612 uterine ligament cancer 'uterine ligament cancer' SubClassOf 'uterine ligament neoplasm' 'uterine ligament cancer' SubClassOf 'uterine ligament neoplasm' http://purl.obolibrary.org/obo/MONDO_0003619 salpingitis 'salpingitis' SubClassOf 'fallopian tube disease' 'salpingitis' SubClassOf 'fallopian tube disease' http://purl.obolibrary.org/obo/MONDO_0003617 chronic salpingitis 'chronic salpingitis' SubClassOf 'salpingitis' 'chronic salpingitis' SubClassOf 'salpingitis' http://purl.obolibrary.org/obo/MONDO_0003624 acinic cell breast carcinoma 'acinic cell breast carcinoma' SubClassOf 'acinar cell carcinoma' 'acinic cell breast carcinoma' SubClassOf 'acinar cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003626 uterine ligament serous adenocarcinoma 'uterine ligament serous adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' 'uterine ligament serous adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003627 rheumatic pulmonary valve disease 'rheumatic pulmonary valve disease' SubClassOf 'autoimmune disorder of cardiovascular system' 'rheumatic pulmonary valve disease' SubClassOf 'pulmonary valve disease' 'rheumatic pulmonary valve disease' SubClassOf 'rheumatic disease' 'rheumatic pulmonary valve disease' SubClassOf 'autoimmune disorder of cardiovascular system' 'rheumatic pulmonary valve disease' SubClassOf 'pulmonary valve disease' 'rheumatic pulmonary valve disease' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0003633 malignant mesenchymoma 'malignant mesenchymoma' SubClassOf 'mesenchymoma' 'malignant mesenchymoma' SubClassOf 'mesenchymoma' http://purl.obolibrary.org/obo/MONDO_0003635 sebaceous breast carcinoma 'sebaceous breast carcinoma' SubClassOf 'sebaceous adenocarcinoma' 'sebaceous breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'sebaceous breast carcinoma' SubClassOf 'breast adenocarcinoma' 'sebaceous breast carcinoma' SubClassOf 'sebaceous adenocarcinoma' 'sebaceous breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'sebaceous breast carcinoma' SubClassOf 'breast adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003630 pancreatic serous cystadenocarcinoma 'pancreatic serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' 'pancreatic serous cystadenocarcinoma' SubClassOf 'pancreatic cystadenocarcinoma' 'pancreatic serous cystadenocarcinoma' SubClassOf 'pancreatic serous cystic neoplasm' 'pancreatic serous cystadenocarcinoma' SubClassOf 'serous cystadenocarcinoma' 'pancreatic serous cystadenocarcinoma' SubClassOf 'pancreatic cystadenocarcinoma' 'pancreatic serous cystadenocarcinoma' SubClassOf 'pancreatic serous cystic neoplasm' http://purl.obolibrary.org/obo/MONDO_0003631 cervical serous adenocarcinoma 'cervical serous adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'cervical serous adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'cervical serous adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'cervical serous adenocarcinoma' SubClassOf 'cervical adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003632 endocervicitis 'endocervicitis' SubClassOf 'inflammatory disease' 'endocervicitis' SubClassOf 'cervicitis' 'endocervicitis' SubClassOf 'inflammatory disease' 'endocervicitis' SubClassOf 'cervicitis' http://purl.obolibrary.org/obo/MONDO_0003638 lung meningioma 'lung meningioma' SubClassOf 'meningioma' 'lung meningioma' SubClassOf 'lung cancer' 'lung meningioma' SubClassOf 'meningioma' 'lung meningioma' SubClassOf 'lung cancer' http://purl.obolibrary.org/obo/MONDO_0003644 cavernous hemangioma of colon 'cavernous hemangioma of colon' SubClassOf 'benign colon neoplasm' 'cavernous hemangioma of colon' SubClassOf 'Cavernous Hemangioma' 'cavernous hemangioma of colon' SubClassOf 'benign colon neoplasm' 'cavernous hemangioma of colon' SubClassOf 'Cavernous Hemangioma' http://purl.obolibrary.org/obo/MONDO_0003646 rectum neuroendocrine neoplasm 'rectum neuroendocrine neoplasm' SubClassOf 'intestinal neuroendocrine neoplasm' 'rectum neuroendocrine neoplasm' SubClassOf 'epithelial neoplasm of rectum' 'rectum neuroendocrine neoplasm' SubClassOf 'intestinal neuroendocrine neoplasm' 'rectum neuroendocrine neoplasm' SubClassOf 'epithelial neoplasm of rectum' http://purl.obolibrary.org/obo/MONDO_0003641 central nervous system hematopoietic neoplasm 'central nervous system hematopoietic neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'central nervous system hematopoietic neoplasm' SubClassOf 'Central Nervous System Neoplasm' 'central nervous system hematopoietic neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'central nervous system hematopoietic neoplasm' SubClassOf 'Central Nervous System Neoplasm' http://purl.obolibrary.org/obo/MONDO_0003649 esophageal neuroendocrine tumor 'esophageal neuroendocrine tumor' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'esophageal neuroendocrine tumor' SubClassOf 'neoplasm of esophagus' 'esophageal neuroendocrine tumor' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'esophageal neuroendocrine tumor' SubClassOf 'neoplasm of esophagus' http://purl.obolibrary.org/obo/MONDO_0003654 childhood parosteal osteosarcoma 'childhood parosteal osteosarcoma' SubClassOf 'pediatric osteosarcoma' 'childhood parosteal osteosarcoma' EquivalentTo 'pediatric osteosarcoma' and 'juxtacortical osteosarcoma' 'childhood parosteal osteosarcoma' SubClassOf 'juxtacortical osteosarcoma' 'childhood parosteal osteosarcoma' SubClassOf 'pediatric osteosarcoma' 'childhood parosteal osteosarcoma' EquivalentTo 'pediatric osteosarcoma' and 'juxtacortical osteosarcoma' 'childhood parosteal osteosarcoma' SubClassOf 'juxtacortical osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0003659 pediatric lymphoma 'pediatric lymphoma' SubClassOf 'childhood cancer' 'pediatric lymphoma' SubClassOf 'lymphoma' 'pediatric lymphoma' SubClassOf 'childhood cancer' 'pediatric lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0003666 fallopian tube endometrioid adenocarcinoma 'fallopian tube endometrioid adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'fallopian tube endometrioid adenocarcinoma' SubClassOf 'fallopian tube adenocarcinoma' 'fallopian tube endometrioid adenocarcinoma' SubClassOf 'endometrioid carcinoma' 'fallopian tube endometrioid adenocarcinoma' SubClassOf 'fallopian tube adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003668 extragonadal seminoma 'extragonadal seminoma' SubClassOf 'seminoma' 'extragonadal seminoma' SubClassOf 'extragonadal germ cell cancer' 'extragonadal seminoma' SubClassOf 'seminoma' 'extragonadal seminoma' SubClassOf 'extragonadal germ cell cancer' http://purl.obolibrary.org/obo/MONDO_0003663 uterine ligament endometrioid adenocarcinoma 'uterine ligament endometrioid adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' 'uterine ligament endometrioid adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003660 adult lymphoma 'adult lymphoma' SubClassOf 'lymphoma' 'adult lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0003661 breast lymphoma 'breast lymphoma' SubClassOf 'lymphoma' 'breast lymphoma' SubClassOf 'breast cancer' 'breast lymphoma' SubClassOf 'lymphoma' 'breast lymphoma' SubClassOf 'breast cancer' http://purl.obolibrary.org/obo/MONDO_0003438 combined small cell lung carcinoma 'combined small cell lung carcinoma' SubClassOf 'Combined Lung Carcinoma' 'combined small cell lung carcinoma' SubClassOf 'small cell lung carcinoma' 'combined small cell lung carcinoma' EquivalentTo 'small cell lung carcinoma' and 'Combined Lung Carcinoma' 'combined small cell lung carcinoma' SubClassOf 'Combined Lung Carcinoma' 'combined small cell lung carcinoma' SubClassOf 'small cell lung carcinoma' 'combined small cell lung carcinoma' EquivalentTo 'small cell lung carcinoma' and 'Combined Lung Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003431 lipoadenoma 'lipoadenoma' SubClassOf 'adenoma' 'lipoadenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0027407 Kleefstra syndrome 1 'Kleefstra syndrome 1' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome 1' SubClassOf 'Kleefstra syndrome' http://purl.obolibrary.org/obo/MONDO_0003434 vaginal adenoma 'vaginal adenoma' SubClassOf 'adenoma' 'vaginal adenoma' SubClassOf 'vaginal glandular neoplasm' 'vaginal adenoma' SubClassOf 'adenoma' 'vaginal adenoma' SubClassOf 'vaginal glandular neoplasm' http://purl.obolibrary.org/obo/MONDO_0003439 urinary bladder villous adenoma 'urinary bladder villous adenoma' SubClassOf 'villous adenoma' 'urinary bladder villous adenoma' SubClassOf 'bladder tumor' 'urinary bladder villous adenoma' SubClassOf 'villous adenoma' 'urinary bladder villous adenoma' SubClassOf 'bladder tumor' http://purl.obolibrary.org/obo/MONDO_0003446 papillary hidradenoma 'papillary hidradenoma' SubClassOf 'hidradenoma' 'papillary hidradenoma' SubClassOf 'hidradenoma' http://purl.obolibrary.org/obo/MONDO_0003448 benign spiradenoma 'benign spiradenoma' SubClassOf 'benign neoplasm of sweat gland' 'benign spiradenoma' SubClassOf 'benign neoplasm of sweat gland' http://purl.obolibrary.org/obo/MONDO_0003442 bladder papillary urothelial neoplasm 'bladder papillary urothelial neoplasm' SubClassOf 'papillary urothelial neoplasm' 'bladder papillary urothelial neoplasm' SubClassOf 'bladder tumor' 'bladder papillary urothelial neoplasm' SubClassOf 'papillary urothelial neoplasm' 'bladder papillary urothelial neoplasm' SubClassOf 'bladder tumor' http://purl.obolibrary.org/obo/MONDO_0003443 papillary urothelial neoplasm 'papillary urothelial neoplasm' SubClassOf 'papillary epithelial neoplasm' 'papillary urothelial neoplasm' SubClassOf 'papillary epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0003444 intrahepatic bile duct adenoma 'intrahepatic bile duct adenoma' SubClassOf 'Bile Duct Adenoma' 'intrahepatic bile duct adenoma' SubClassOf 'Bile Duct Adenoma' http://purl.obolibrary.org/obo/MONDO_0003445 extrahepatic bile duct adenoma 'extrahepatic bile duct adenoma' SubClassOf 'Bile Duct Adenoma' 'extrahepatic bile duct adenoma' SubClassOf 'extrahepatic bile duct neoplasm' 'extrahepatic bile duct adenoma' SubClassOf 'Bile Duct Adenoma' 'extrahepatic bile duct adenoma' SubClassOf 'extrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0003441 dystonic disorder 'dystonic disorder' SubClassOf 'extrapyramidal and movement disease' 'dystonic disorder' SubClassOf 'extrapyramidal and movement disease' http://purl.obolibrary.org/obo/MONDO_0003458 uterine corpus adenofibroma 'uterine corpus adenofibroma' SubClassOf 'Adenofibroma' 'uterine corpus adenofibroma' SubClassOf 'benign neoplasm of corpus uteri' 'uterine corpus adenofibroma' SubClassOf 'Adenofibroma' 'uterine corpus adenofibroma' SubClassOf 'benign neoplasm of corpus uteri' http://www.ebi.ac.uk/efo/EFO_0004193 basal cell carcinoma 'basal cell carcinoma' SubClassOf 'basal cell neoplasm' 'basal cell carcinoma' SubClassOf 'carcinoma' 'basal cell carcinoma' SubClassOf 'basal cell neoplasm' 'basal cell carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0004194 IGA glomerulonephritis 'IGA glomerulonephritis' SubClassOf 'glomerulonephritis' 'IGA glomerulonephritis' SubClassOf 'glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0003453 conjunctival intraepithelial neoplasm 'conjunctival intraepithelial neoplasm' SubClassOf 'conjunctival tumor' 'conjunctival intraepithelial neoplasm' SubClassOf 'squamous cell intraepithelial neoplasia' 'conjunctival intraepithelial neoplasm' SubClassOf 'conjunctival tumor' 'conjunctival intraepithelial neoplasm' SubClassOf 'squamous cell intraepithelial neoplasia' http://purl.obolibrary.org/obo/MONDO_0003454 conjunctival cancer 'conjunctival cancer' SubClassOf 'conjunctival tumor' 'conjunctival cancer' SubClassOf 'ocular cancer' 'conjunctival cancer' SubClassOf 'conjunctival tumor' 'conjunctival cancer' SubClassOf 'ocular cancer' http://purl.obolibrary.org/obo/MONDO_0003455 bile duct papillary neoplasm 'bile duct papillary neoplasm' SubClassOf 'bile duct neoplasm' 'bile duct papillary neoplasm' SubClassOf 'bile duct neoplasm' http://www.ebi.ac.uk/efo/EFO_0004197 hepatitis B virus infection 'hepatitis B virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis B virus infection' SubClassOf 'viral human hepatitis infection' http://www.ebi.ac.uk/efo/EFO_0004198 skin neoplasm 'skin neoplasm' SubClassOf 'skin disease' 'skin neoplasm' SubClassOf 'neoplasm' 'skin neoplasm' SubClassOf 'skin disease' 'skin neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0003450 eccrine papillary adenoma 'eccrine papillary adenoma' SubClassOf 'eccrine sweat gland neoplasm' 'eccrine papillary adenoma' SubClassOf 'eccrine sweat gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0003468 biphasic synovial sarcoma 'biphasic synovial sarcoma' SubClassOf 'synovial sarcoma' 'biphasic synovial sarcoma' SubClassOf 'synovial sarcoma' http://purl.obolibrary.org/obo/MONDO_0003464 cystadenofibroma 'cystadenofibroma' SubClassOf 'Adenofibroma' 'cystadenofibroma' SubClassOf 'Adenofibroma' http://purl.obolibrary.org/obo/MONDO_0003466 spindle cell synovial sarcoma 'spindle cell synovial sarcoma' SubClassOf 'monophasic synovial sarcoma' 'spindle cell synovial sarcoma' SubClassOf 'monophasic synovial sarcoma' http://purl.obolibrary.org/obo/MONDO_0003467 mediastinum synovial sarcoma 'mediastinum synovial sarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinum synovial sarcoma' SubClassOf 'synovial sarcoma' 'mediastinum synovial sarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinum synovial sarcoma' SubClassOf 'synovial sarcoma' http://purl.obolibrary.org/obo/MONDO_0003461 fallopian tube serous adenofibroma 'fallopian tube serous adenofibroma' SubClassOf 'fallopian tube benign neoplasm' 'fallopian tube serous adenofibroma' SubClassOf 'serous adenofibroma' 'fallopian tube serous adenofibroma' SubClassOf 'fallopian tube benign neoplasm' 'fallopian tube serous adenofibroma' SubClassOf 'serous adenofibroma' http://www.ebi.ac.uk/efo/EFO_0004191 androgenetic alopecia 'androgenetic alopecia' SubClassOf 'endocrine alopecia' 'androgenetic alopecia' SubClassOf 'endocrine alopecia' http://www.ebi.ac.uk/efo/EFO_0004192 alopecia areata 'alopecia areata' SubClassOf 'alopecia' 'alopecia areata' SubClassOf 'alopecia' http://www.ebi.ac.uk/efo/EFO_0004190 open-angle glaucoma 'open-angle glaucoma' SubClassOf 'glaucoma' 'open-angle glaucoma' SubClassOf 'glaucoma' http://purl.obolibrary.org/obo/MONDO_0003477 brain stem ependymoma 'brain stem ependymoma' SubClassOf 'ependymal tumor of brain' 'brain stem ependymoma' SubClassOf 'ependymoma' 'brain stem ependymoma' SubClassOf 'Brain Stem Glioma' 'brain stem ependymoma' SubClassOf 'ependymal tumor of brain' 'brain stem ependymoma' SubClassOf 'ependymoma' 'brain stem ependymoma' SubClassOf 'Brain Stem Glioma' http://purl.obolibrary.org/obo/MONDO_0003478 childhood ependymoma 'childhood ependymoma' SubClassOf 'ependymoma' 'childhood ependymoma' SubClassOf 'ependymoma' http://purl.obolibrary.org/obo/MONDO_0003472 lice infestation 'lice infestation' SubClassOf 'parasitic ectoparasitic infectious disease' 'lice infestation' SubClassOf 'parasitic ectoparasitic infectious disease' http://purl.obolibrary.org/obo/MONDO_0003473 spinal cord ependymoma 'spinal cord ependymoma' SubClassOf 'ependymal tumor of spinal cord' 'spinal cord ependymoma' SubClassOf 'ependymoma' 'spinal cord ependymoma' SubClassOf 'ependymal tumor of spinal cord' 'spinal cord ependymoma' SubClassOf 'ependymoma' http://purl.obolibrary.org/obo/MONDO_0003482 Pediculus humanus corporis infestation 'Pediculus humanus corporis infestation' SubClassOf 'lice infestation' 'Pediculus humanus corporis infestation' SubClassOf 'lice infestation' http://purl.obolibrary.org/obo/MONDO_0003497 renal pelvis squamous cell carcinoma 'renal pelvis squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'renal pelvis squamous cell carcinoma' SubClassOf 'renal pelvis carcinoma' 'renal pelvis squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'renal pelvis squamous cell carcinoma' SubClassOf 'renal pelvis carcinoma' http://purl.obolibrary.org/obo/MONDO_0003495 ovarian squamous cell neoplasm 'ovarian squamous cell neoplasm' SubClassOf 'ovarian epithelial tumor' 'ovarian squamous cell neoplasm' SubClassOf 'squamous cell neoplasm' 'ovarian squamous cell neoplasm' SubClassOf 'ovarian epithelial tumor' 'ovarian squamous cell neoplasm' SubClassOf 'squamous cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003490 ampulla of vater squamous cell carcinoma 'ampulla of vater squamous cell carcinoma' SubClassOf 'Ampulla of Vater Carcinoma' 'ampulla of vater squamous cell carcinoma' SubClassOf 'Ampulla of Vater Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003492 lacrimal gland squamous cell carcinoma 'lacrimal gland squamous cell carcinoma' SubClassOf 'lacrimal gland carcinoma' 'lacrimal gland squamous cell carcinoma' SubClassOf 'lacrimal gland carcinoma' http://purl.obolibrary.org/obo/MONDO_0003501 external ear squamous cell carcinoma 'external ear squamous cell carcinoma' SubClassOf 'external ear carcinoma' 'external ear squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'external ear squamous cell carcinoma' SubClassOf 'external ear carcinoma' 'external ear squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003502 ureter squamous cell carcinoma 'ureter squamous cell carcinoma' SubClassOf 'Ureter Carcinoma' 'ureter squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'ureter squamous cell carcinoma' SubClassOf 'Ureter Carcinoma' 'ureter squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003503 fallopian tube squamous cell carcinoma 'fallopian tube squamous cell carcinoma' SubClassOf 'Fallopian Tube Carcinoma' 'fallopian tube squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'fallopian tube squamous cell carcinoma' SubClassOf 'Fallopian Tube Carcinoma' 'fallopian tube squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003500 squamous cell bile duct carcinoma 'squamous cell bile duct carcinoma' SubClassOf 'bile duct carcinoma' 'squamous cell bile duct carcinoma' SubClassOf 'bile duct carcinoma' http://purl.obolibrary.org/obo/MONDO_0003509 pineal region choriocarcinoma 'pineal region choriocarcinoma' SubClassOf 'malignant pineal area germ cell neoplasm' 'pineal region choriocarcinoma' SubClassOf 'choriocarcinoma of the central nervous system' 'pineal region choriocarcinoma' SubClassOf 'malignant pineal area germ cell neoplasm' 'pineal region choriocarcinoma' SubClassOf 'choriocarcinoma of the central nervous system' http://purl.obolibrary.org/obo/MONDO_0003506 pulmonary artery choriocarcinoma 'pulmonary artery choriocarcinoma' SubClassOf 'Malignant Germ Cell Tumor' 'pulmonary artery choriocarcinoma' SubClassOf 'choriocarcinoma' 'pulmonary artery choriocarcinoma' SubClassOf 'Malignant Germ Cell Tumor' 'pulmonary artery choriocarcinoma' SubClassOf 'choriocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003512 mediastinal mesenchymal tumor 'mediastinal mesenchymal tumor' SubClassOf 'neoplasm of mediastinum' 'mediastinal mesenchymal tumor' SubClassOf 'Soft Tissue Neoplasm' 'mediastinal mesenchymal tumor' SubClassOf 'neoplasm of mediastinum' 'mediastinal mesenchymal tumor' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0003513 gastric teratoma 'gastric teratoma' SubClassOf 'teratoma' 'gastric teratoma' SubClassOf 'stomach neoplasm' 'gastric teratoma' SubClassOf 'teratoma' 'gastric teratoma' SubClassOf 'stomach neoplasm' http://purl.obolibrary.org/obo/MONDO_0003514 malignant teratoma 'malignant teratoma' SubClassOf 'teratoma' 'malignant teratoma' SubClassOf 'teratoma' http://purl.obolibrary.org/obo/MONDO_0003515 fallopian tube teratoma 'fallopian tube teratoma' SubClassOf 'fallopian tube germ cell tumor' 'fallopian tube teratoma' SubClassOf 'teratoma' 'fallopian tube teratoma' SubClassOf 'fallopian tube germ cell tumor' 'fallopian tube teratoma' SubClassOf 'teratoma' http://purl.obolibrary.org/obo/MONDO_0003510 malignant testicular germ cell tumor 'malignant testicular germ cell tumor' SubClassOf 'Malignant Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'testicular carcinoma' 'malignant testicular germ cell tumor' SubClassOf 'Malignant Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'Testicular Germ Cell Tumor' 'malignant testicular germ cell tumor' SubClassOf 'testicular carcinoma' http://purl.obolibrary.org/obo/MONDO_0003516 adult teratoma 'adult teratoma' SubClassOf 'teratoma' 'adult teratoma' SubClassOf 'teratoma' http://purl.obolibrary.org/obo/MONDO_0003523 gastrin-producing neuroendocrine tumor 'gastrin-producing neuroendocrine tumor' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'gastrin-producing neuroendocrine tumor' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' http://purl.obolibrary.org/obo/MONDO_0003524 gastric gastrin-producing neuroendocrine tumor 'gastric gastrin-producing neuroendocrine tumor' SubClassOf 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' 'gastric gastrin-producing neuroendocrine tumor' SubClassOf 'gastrin-producing neuroendocrine tumor' 'gastric gastrin-producing neuroendocrine tumor' SubClassOf 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' 'gastric gastrin-producing neuroendocrine tumor' SubClassOf 'gastrin-producing neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0003525 pancreatic gastrin-producing neuroendocrine tumor 'pancreatic gastrin-producing neuroendocrine tumor' SubClassOf 'pancreatic neuroendocrine tumor' 'pancreatic gastrin-producing neuroendocrine tumor' SubClassOf 'gastrin-producing neuroendocrine tumor' 'pancreatic gastrin-producing neuroendocrine tumor' SubClassOf 'pancreatic neuroendocrine tumor' 'pancreatic gastrin-producing neuroendocrine tumor' SubClassOf 'gastrin-producing neuroendocrine tumor' http://www.ebi.ac.uk/efo/EFO_0004126 Adie syndrome 'Adie syndrome' SubClassOf 'syndromic disease' 'Adie syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0004127 hyperthyroxinemia 'hyperthyroxinemia' SubClassOf 'thyroid disease' 'hyperthyroxinemia' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_0004128 hereditary nephritis 'hereditary nephritis' SubClassOf 'nephritis' 'hereditary nephritis' SubClassOf 'nephritis' http://www.ebi.ac.uk/efo/EFO_0004129 familial amyloid neuropathy 'familial amyloid neuropathy' SubClassOf 'hereditary peripheral neuropathy' 'familial amyloid neuropathy' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0003529 acute pyelonephritis 'acute pyelonephritis' SubClassOf 'pyelonephritis' 'acute pyelonephritis' SubClassOf 'pyelonephritis' http://purl.obolibrary.org/obo/MONDO_0003534 papillary thymic adenocarcinoma 'papillary thymic adenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary thymic adenocarcinoma' SubClassOf 'thymus gland adenocarcinoma' 'papillary thymic adenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary thymic adenocarcinoma' SubClassOf 'thymus gland adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003535 fallopian tube papillary adenocarcinoma 'fallopian tube papillary adenocarcinoma' SubClassOf 'fallopian tube adenocarcinoma' 'fallopian tube papillary adenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'fallopian tube papillary adenocarcinoma' SubClassOf 'fallopian tube adenocarcinoma' 'fallopian tube papillary adenocarcinoma' SubClassOf 'papillary adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0004152 chorea 'chorea' SubClassOf 'movement disorder' 'chorea' SubClassOf 'disease has major feature' some 'Chorea' 'chorea' SubClassOf 'movement disorder' 'chorea' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Chorea' http://purl.obolibrary.org/obo/MONDO_0003537 precursor T-lymphoblastic lymphoma/leukemia 'precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'T-cell and NK-cell neoplasm' 'precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' 'precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' 'precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'T-cell and NK-cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003531 papillary eccrine carcinoma 'papillary eccrine carcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary eccrine carcinoma' SubClassOf 'eccrine carcinoma' 'papillary eccrine carcinoma' EquivalentTo 'papillary adenocarcinoma' and 'eccrine carcinoma' 'papillary eccrine carcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary eccrine carcinoma' SubClassOf 'eccrine carcinoma' 'papillary eccrine carcinoma' EquivalentTo 'papillary adenocarcinoma' and 'eccrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0003532 breast papillary carcinoma 'breast papillary carcinoma' SubClassOf 'breast ductal adenocarcinoma' 'breast papillary carcinoma' SubClassOf 'papillary adenocarcinoma' 'breast papillary carcinoma' SubClassOf 'breast ductal adenocarcinoma' 'breast papillary carcinoma' SubClassOf 'papillary adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003546 third cranial nerve disorder 'third cranial nerve disorder' SubClassOf 'peripheral nervous system disease' 'third cranial nerve disorder' SubClassOf 'cranial nerve neuropathy' 'third cranial nerve disorder' SubClassOf 'peripheral nervous system disease' 'third cranial nerve disorder' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0003548 adenosquamous breast carcinoma 'adenosquamous breast carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'adenosquamous breast carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003541 adult acute lymphoblastic leukemia 'adult acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'adult acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0004144 acatalasia 'acatalasia' SubClassOf 'disorder of defective peroxisome oxidative status' 'acatalasia' SubClassOf 'disorder of defective peroxisome oxidative status' http://www.ebi.ac.uk/efo/EFO_0004145 myopathy 'myopathy' SubClassOf 'skeletal muscle disorder' 'myopathy' SubClassOf 'skeletal muscle disorder' http://www.ebi.ac.uk/efo/EFO_0004142 colorectal neoplasm 'colorectal neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'colorectum') 'colorectal neoplasm' SubClassOf 'intestinal neoplasm' 'colorectal neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'colorectum') 'colorectal neoplasm' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003544 spinal cord cancer 'spinal cord cancer' SubClassOf 'spinal cord neoplasm' 'spinal cord cancer' SubClassOf 'central nervous system cancer' 'spinal cord cancer' SubClassOf 'spinal cord neoplasm' 'spinal cord cancer' SubClassOf 'central nervous system cancer' http://www.ebi.ac.uk/efo/EFO_0004143 carpal tunnel syndrome 'carpal tunnel syndrome' SubClassOf 'nerve compression syndrome' 'carpal tunnel syndrome' SubClassOf 'nerve compression syndrome' http://purl.obolibrary.org/obo/MONDO_0003549 adenosquamous bile duct carcinoma 'adenosquamous bile duct carcinoma' SubClassOf 'squamous cell bile duct carcinoma' 'adenosquamous bile duct carcinoma' SubClassOf 'squamous cell bile duct carcinoma' http://purl.obolibrary.org/obo/MONDO_0003314 endometrioid stromal and related neoplasms of the vagina 'endometrioid stromal and related neoplasms of the vagina' SubClassOf 'endometrioid stromal and related neoplasms' 'endometrioid stromal and related neoplasms of the vagina' SubClassOf 'endometrioid stromal and related neoplasms' http://purl.obolibrary.org/obo/MONDO_0003315 endometrium carcinoma in situ 'endometrium carcinoma in situ' SubClassOf 'uterus carcinoma in situ' 'endometrium carcinoma in situ' SubClassOf 'uterus carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0003312 ovarian endometrioid stromal and related neoplasms 'ovarian endometrioid stromal and related neoplasms' SubClassOf 'endometrioid stromal and related neoplasms' 'ovarian endometrioid stromal and related neoplasms' SubClassOf 'endometrioid stromal and related neoplasms' http://purl.obolibrary.org/obo/MONDO_0003313 endometrioid stromal sarcoma of the vagina 'endometrioid stromal sarcoma of the vagina' SubClassOf 'vagina sarcoma' 'endometrioid stromal sarcoma of the vagina' SubClassOf 'endometrioid stromal and related neoplasms of the vagina' 'endometrioid stromal sarcoma of the vagina' SubClassOf 'vagina sarcoma' 'endometrioid stromal sarcoma of the vagina' SubClassOf 'endometrioid stromal and related neoplasms of the vagina' http://purl.obolibrary.org/obo/MONDO_0017951 trichorhinophalangeal syndrome 'trichorhinophalangeal syndrome' SubClassOf 'acromelic dysplasia' 'trichorhinophalangeal syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'trichorhinophalangeal syndrome' SubClassOf 'acromelic dysplasia' 'trichorhinophalangeal syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0017953 hereditary periodic fever syndrome 'hereditary periodic fever syndrome' SubClassOf 'periodic fever syndrome' 'hereditary periodic fever syndrome' SubClassOf 'periodic fever syndrome' http://purl.obolibrary.org/obo/MONDO_0003327 peripheral ganglioneuroblastoma 'peripheral ganglioneuroblastoma' SubClassOf 'ganglioneuroblastoma' 'peripheral ganglioneuroblastoma' SubClassOf 'ganglioneuroblastoma' http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor 'hereditary Wilms tumor' SubClassOf 'kidney Wilms tumor' 'hereditary Wilms tumor' SubClassOf 'kidney Wilms tumor' http://purl.obolibrary.org/obo/MONDO_0017967 testicular agenesis 'testicular agenesis' SubClassOf '46,XY disorder of sex development' 'testicular agenesis' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0017968 46,XY ovotesticular disorder of sex development '46,XY ovotesticular disorder of sex development' SubClassOf '46,XY disorder of sex development' '46,XY ovotesticular disorder of sex development' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0003337 acute hemorrhagic encephalitis 'acute hemorrhagic encephalitis' SubClassOf 'viral encephalitis' 'acute hemorrhagic encephalitis' SubClassOf 'viral encephalitis' http://purl.obolibrary.org/obo/MONDO_0003332 malignant struma ovarii 'malignant struma ovarii' SubClassOf 'struma ovarii' 'malignant struma ovarii' SubClassOf 'Teratoma with Malignant Transformation' 'malignant struma ovarii' SubClassOf 'struma ovarii' 'malignant struma ovarii' SubClassOf 'Teratoma with Malignant Transformation' http://purl.obolibrary.org/obo/MONDO_0003333 benign struma ovarii 'benign struma ovarii' SubClassOf 'struma ovarii' 'benign struma ovarii' SubClassOf 'struma ovarii' http://purl.obolibrary.org/obo/MONDO_0003334 demyelinating polyneuropathy 'demyelinating polyneuropathy' SubClassOf 'polyneuropathy' 'demyelinating polyneuropathy' SubClassOf 'demyelinating disease' 'demyelinating polyneuropathy' SubClassOf 'polyneuropathy' 'demyelinating polyneuropathy' SubClassOf 'demyelinating disease' http://purl.obolibrary.org/obo/MONDO_0003335 chronic polyneuropathy 'chronic polyneuropathy' SubClassOf 'polyneuropathy' 'chronic polyneuropathy' SubClassOf 'polyneuropathy' http://purl.obolibrary.org/obo/MONDO_0003331 ovarian monodermal teratoma 'ovarian monodermal teratoma' SubClassOf 'ovarian teratoma' 'ovarian monodermal teratoma' SubClassOf 'ovarian teratoma' http://purl.obolibrary.org/obo/MONDO_0017979 autoimmune lymphoproliferative syndrome 'autoimmune lymphoproliferative syndrome' SubClassOf 'type IV hypersensitivity disease' 'autoimmune lymphoproliferative syndrome' SubClassOf 'neoplastic syndrome' 'autoimmune lymphoproliferative syndrome' SubClassOf 'lymphoproliferative syndrome' 'autoimmune lymphoproliferative syndrome' SubClassOf 'type IV hypersensitivity disease' 'autoimmune lymphoproliferative syndrome' SubClassOf 'neoplastic syndrome' 'autoimmune lymphoproliferative syndrome' SubClassOf 'lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 'non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital lipoid adrenal hyperplasia due to STAR deficency' 'non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital lipoid adrenal hyperplasia due to STAR deficency' http://purl.obolibrary.org/obo/MONDO_0017975 sex chromosome disorder of sex development 'sex chromosome disorder of sex development' SubClassOf 'disorder of sexual differentiation' 'sex chromosome disorder of sex development' SubClassOf 'disorder of sexual differentiation' http://purl.obolibrary.org/obo/MONDO_0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency 'classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital lipoid adrenal hyperplasia due to STAR deficency' 'classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital lipoid adrenal hyperplasia due to STAR deficency' http://purl.obolibrary.org/obo/MONDO_0003349 central nervous system leiomyosarcoma 'central nervous system leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'central nervous system leiomyosarcoma' SubClassOf 'central nervous system sarcoma' 'central nervous system leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'central nervous system leiomyosarcoma' SubClassOf 'central nervous system sarcoma' http://purl.obolibrary.org/obo/MONDO_0003343 retinal hemangioblastoma 'retinal hemangioblastoma' SubClassOf 'hemangioblastoma' 'retinal hemangioblastoma' SubClassOf 'retinal vascular disorder' 'retinal hemangioblastoma' SubClassOf 'hemangioblastoma' 'retinal hemangioblastoma' SubClassOf 'retinal vascular disorder' http://purl.obolibrary.org/obo/MONDO_0003346 central nervous system vasculitis 'central nervous system vasculitis' SubClassOf 'vasculitis' 'central nervous system vasculitis' SubClassOf 'central nervous system disease' 'central nervous system vasculitis' SubClassOf 'vasculitis' 'central nervous system vasculitis' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0003340 malignant glomus tumor 'malignant glomus tumor' SubClassOf 'glomus tumor' 'malignant glomus tumor' SubClassOf 'glomus tumor' http://purl.obolibrary.org/obo/MONDO_0003342 benign perivascular tumor 'benign perivascular tumor' SubClassOf 'pericytic neoplasm' 'benign perivascular tumor' SubClassOf 'pericytic neoplasm' http://purl.obolibrary.org/obo/MONDO_0017989 His bundle tachycardia 'His bundle tachycardia' SubClassOf 'cardiac rhythm disease' 'His bundle tachycardia' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0017986 disorder of plasmalogens biosynthesis 'disorder of plasmalogens biosynthesis' SubClassOf 'peroxisomal single enzyme/protein defect' 'disorder of plasmalogens biosynthesis' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0017987 syringomyelia 'syringomyelia' SubClassOf 'spinal cord disease' 'syringomyelia' SubClassOf 'spinal cord disease' http://purl.obolibrary.org/obo/MONDO_0017980 syngnathia multiple anomalies 'syngnathia multiple anomalies' SubClassOf 'dysostosis' 'syngnathia multiple anomalies' SubClassOf 'genetic disorder' 'syngnathia multiple anomalies' SubClassOf 'syndromic disease' 'syngnathia multiple anomalies' SubClassOf 'dysostosis' 'syngnathia multiple anomalies' SubClassOf 'genetic disorder' 'syngnathia multiple anomalies' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017981 syngnathia-cleft palate syndrome 'syngnathia-cleft palate syndrome' SubClassOf 'genetic disorder' 'syngnathia-cleft palate syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017983 humero-radio-ulnar synostosis 'humero-radio-ulnar synostosis' SubClassOf 'genetic disorder' 'humero-radio-ulnar synostosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0003358 anus leiomyosarcoma 'anus leiomyosarcoma' SubClassOf 'anus sarcoma' 'anus leiomyosarcoma' SubClassOf 'anus sarcoma' http://purl.obolibrary.org/obo/MONDO_0003354 heart sarcoma 'heart sarcoma' SubClassOf 'soft tissue sarcoma' 'heart sarcoma' SubClassOf 'heart cancer' 'heart sarcoma' SubClassOf 'soft tissue sarcoma' 'heart sarcoma' SubClassOf 'heart cancer' http://purl.obolibrary.org/obo/MONDO_0003357 lung leiomyosarcoma 'lung leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'lung leiomyosarcoma' SubClassOf 'lung sarcoma' 'lung leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'lung leiomyosarcoma' SubClassOf 'lung sarcoma' http://purl.obolibrary.org/obo/MONDO_0003351 colon leiomyosarcoma 'colon leiomyosarcoma' SubClassOf 'colon sarcoma' 'colon leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'colon leiomyosarcoma' SubClassOf 'colon sarcoma' 'colon leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003352 colon sarcoma 'colon sarcoma' SubClassOf 'malignant colon neoplasm' 'colon sarcoma' SubClassOf 'sarcoma' 'colon sarcoma' SubClassOf 'malignant colon neoplasm' 'colon sarcoma' SubClassOf 'sarcoma' http://purl.obolibrary.org/obo/MONDO_0003353 heart leiomyosarcoma 'heart leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'heart leiomyosarcoma' SubClassOf 'heart sarcoma' 'heart leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'heart leiomyosarcoma' SubClassOf 'heart sarcoma' http://purl.obolibrary.org/obo/MONDO_0042966 inherited mitral valve disease 'inherited mitral valve disease' SubClassOf 'mitral valve disease' 'inherited mitral valve disease' SubClassOf 'mitral valve disease' http://purl.obolibrary.org/obo/MONDO_0017999 fatty acid hydroxylase-associated neurodegeneration 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'complex hereditary spastic paraplegia' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0042967 rheumatic disease of mitral valve 'rheumatic disease of mitral valve' SubClassOf 'mitral valve disease' 'rheumatic disease of mitral valve' SubClassOf 'mitral valve disease' http://purl.obolibrary.org/obo/MONDO_0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'syndromic disease' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'genetic disorder' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'syndromic disease' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome 'telecanthus-hypertelorism-strabismus-pes cavus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'telecanthus-hypertelorism-strabismus-pes cavus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'immune system disease' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'disorder of glycogen metabolism' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'autoinflammatory syndrome' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'immune system disease' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'disorder of glycogen metabolism' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 'severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'syndromic disease' 'severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017990 catecholaminergic polymorphic ventricular tachycardia 'catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'heart conduction disease' 'catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'polymorphic ventricular tachycardia' 'catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'heart conduction disease' 'catecholaminergic polymorphic ventricular tachycardia' SubClassOf 'polymorphic ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0003369 vagina leiomyosarcoma 'vagina leiomyosarcoma' SubClassOf 'vagina sarcoma' 'vagina leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'vagina leiomyosarcoma' SubClassOf 'vagina sarcoma' 'vagina leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003365 esophagus leiomyosarcoma 'esophagus leiomyosarcoma' SubClassOf 'esophagus sarcoma' 'esophagus leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'esophagus leiomyosarcoma' SubClassOf 'esophagus sarcoma' 'esophagus leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003366 hydrarthrosis 'hydrarthrosis' SubClassOf 'joint disease' 'hydrarthrosis' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0003367 gastric leiomyosarcoma 'gastric leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'gastric leiomyosarcoma' SubClassOf 'gastric cancer' 'gastric leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'gastric leiomyosarcoma' SubClassOf 'gastric cancer' http://purl.obolibrary.org/obo/MONDO_0003368 prostate leiomyosarcoma 'prostate leiomyosarcoma' SubClassOf 'prostate sarcoma' 'prostate leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'prostate leiomyosarcoma' SubClassOf 'prostate sarcoma' 'prostate leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003361 small intestinal sarcoma 'small intestinal sarcoma' SubClassOf 'small intestine cancer' 'small intestinal sarcoma' SubClassOf 'soft tissue sarcoma' 'small intestinal sarcoma' SubClassOf 'small intestine cancer' 'small intestinal sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0003362 cutaneous leiomyosarcoma 'cutaneous leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'cutaneous leiomyosarcoma' SubClassOf 'Skin Sarcoma' 'cutaneous leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'cutaneous leiomyosarcoma' SubClassOf 'Skin Sarcoma' http://purl.obolibrary.org/obo/MONDO_0003363 malignant dermis tumor 'malignant dermis tumor' SubClassOf 'skin cancer' 'malignant dermis tumor' SubClassOf 'dermis tumor' 'malignant dermis tumor' SubClassOf 'skin cancer' 'malignant dermis tumor' SubClassOf 'dermis tumor' http://purl.obolibrary.org/obo/MONDO_0003364 gallbladder leiomyosarcoma 'gallbladder leiomyosarcoma' SubClassOf 'gallbladder sarcoma' 'gallbladder leiomyosarcoma' SubClassOf 'gallbladder sarcoma' http://purl.obolibrary.org/obo/MONDO_0003360 small intestine leiomyosarcoma 'small intestine leiomyosarcoma' SubClassOf 'mesenchymal tumor of small intestine' 'small intestine leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'small intestine leiomyosarcoma' SubClassOf 'small intestinal sarcoma' 'small intestine leiomyosarcoma' SubClassOf 'mesenchymal tumor of small intestine' 'small intestine leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'small intestine leiomyosarcoma' SubClassOf 'small intestinal sarcoma' http://purl.obolibrary.org/obo/MONDO_0042979 hypokalemic periodic paralysis, type 1 'hypokalemic periodic paralysis, type 1' SubClassOf 'hypokalemic periodic paralysis' 'hypokalemic periodic paralysis, type 1' SubClassOf 'hypokalemic periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0042976 vitamin B deficiency 'vitamin B deficiency' SubClassOf 'vitamin deficiency disorder' 'vitamin B deficiency' SubClassOf 'vitamin deficiency disorder' http://purl.obolibrary.org/obo/MONDO_0003376 mediastinum leiomyosarcoma 'mediastinum leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'mediastinum leiomyosarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinum leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'mediastinum leiomyosarcoma' SubClassOf 'mediastinum sarcoma' http://purl.obolibrary.org/obo/MONDO_0003377 extrahepatic bile duct leiomyosarcoma 'extrahepatic bile duct leiomyosarcoma' SubClassOf 'extrahepatic bile duct carcinoma' 'extrahepatic bile duct leiomyosarcoma' SubClassOf 'extrahepatic bile duct carcinoma' http://purl.obolibrary.org/obo/MONDO_0003378 liver leiomyosarcoma 'liver leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'liver leiomyosarcoma' SubClassOf 'liver sarcoma' 'liver leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'liver leiomyosarcoma' SubClassOf 'liver sarcoma' http://purl.obolibrary.org/obo/MONDO_0003379 rectum leiomyosarcoma 'rectum leiomyosarcoma' SubClassOf 'rectum sarcoma' 'rectum leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'rectum leiomyosarcoma' SubClassOf 'rectum sarcoma' 'rectum leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003373 kidney leiomyosarcoma 'kidney leiomyosarcoma' SubClassOf 'kidney sarcoma' 'kidney leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'kidney leiomyosarcoma' SubClassOf 'kidney sarcoma' 'kidney leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003374 laryngeal leiomyosarcoma 'laryngeal leiomyosarcoma' SubClassOf 'laryngeal sarcoma' 'laryngeal leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'laryngeal leiomyosarcoma' SubClassOf 'laryngeal sarcoma' 'laryngeal leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003370 retroperitoneal leiomyosarcoma 'retroperitoneal leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'retroperitoneal leiomyosarcoma' SubClassOf 'retroperitoneal sarcoma' 'retroperitoneal leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'retroperitoneal leiomyosarcoma' SubClassOf 'retroperitoneal sarcoma' http://purl.obolibrary.org/obo/MONDO_0003371 breast leiomyosarcoma 'breast leiomyosarcoma' SubClassOf 'breast sarcoma' 'breast leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'breast leiomyosarcoma' SubClassOf 'breast sarcoma' 'breast leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003387 urethra clear cell adenocarcinoma 'urethra clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'urethra clear cell adenocarcinoma' SubClassOf 'urethra adenocarcinoma' 'urethra clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'urethra clear cell adenocarcinoma' SubClassOf 'urethra adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003388 ampulla of vater clear cell adenocarcinoma 'ampulla of vater clear cell adenocarcinoma' SubClassOf 'ampulla of Vater adenocarcinoma' 'ampulla of vater clear cell adenocarcinoma' SubClassOf 'extrahepatic bile duct clear cell adenocarcinoma' 'ampulla of vater clear cell adenocarcinoma' SubClassOf 'ampulla of Vater adenocarcinoma' 'ampulla of vater clear cell adenocarcinoma' SubClassOf 'extrahepatic bile duct clear cell adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003383 fallopian tube clear cell adenocarcinoma 'fallopian tube clear cell adenocarcinoma' SubClassOf 'fallopian tube adenocarcinoma' 'fallopian tube clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'fallopian tube clear cell adenocarcinoma' SubClassOf 'fallopian tube adenocarcinoma' 'fallopian tube clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003384 uterine ligament clear cell adenocarcinoma 'uterine ligament clear cell adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' 'uterine ligament clear cell adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003386 bladder clear cell adenocarcinoma 'bladder clear cell adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'bladder clear cell adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003399 pineal region yolk sac tumor 'pineal region yolk sac tumor' SubClassOf 'malignant pineal area germ cell neoplasm' 'pineal region yolk sac tumor' SubClassOf 'malignant pineal area germ cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003395 testicular granulosa cell tumor 'testicular granulosa cell tumor' SubClassOf 'granulosa cell tumor' 'testicular granulosa cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' 'testicular granulosa cell tumor' SubClassOf 'granulosa cell tumor' 'testicular granulosa cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003396 epulis 'epulis' SubClassOf 'polyp' 'epulis' SubClassOf 'gingival overgrowth' 'epulis' SubClassOf 'polyp' 'epulis' SubClassOf 'gingival overgrowth' http://purl.obolibrary.org/obo/MONDO_0003391 vulvar alveolar soft part sarcoma 'vulvar alveolar soft part sarcoma' SubClassOf 'alveolar soft part sarcoma' 'vulvar alveolar soft part sarcoma' SubClassOf 'vulva sarcoma' 'vulvar alveolar soft part sarcoma' SubClassOf 'alveolar soft part sarcoma' 'vulvar alveolar soft part sarcoma' SubClassOf 'vulva sarcoma' http://purl.obolibrary.org/obo/MONDO_0003392 fallopian tube germ cell tumor 'fallopian tube germ cell tumor' SubClassOf 'fallopian tube neoplasm' 'fallopian tube germ cell tumor' SubClassOf 'germ cell tumor' 'fallopian tube germ cell tumor' SubClassOf 'fallopian tube neoplasm' 'fallopian tube germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0027353 autosomal recessive dyskeratosis congenita 4 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'disease shares features of' some 'dyskeratosis congenita, autosomal dominant 2' 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'dyskeratosis congenita' 'autosomal recessive dyskeratosis congenita 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'dyskeratosis congenita, autosomal dominant 2' 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'dyskeratosis congenita' http://purl.obolibrary.org/obo/MONDO_0042981 aortic valve stenosis 'aortic valve stenosis' SubClassOf 'disorder of development or morphogenesis' 'aortic valve stenosis' SubClassOf 'aortic valve disease' 'aortic valve stenosis' SubClassOf 'disorder of development or morphogenesis' 'aortic valve stenosis' SubClassOf 'aortic valve disease' http://purl.obolibrary.org/obo/MONDO_0042982 GATA2 deficiency with susceptibility to MDS/AML 'GATA2 deficiency with susceptibility to MDS/AML' SubClassOf 'immunodeficiency disease' 'GATA2 deficiency with susceptibility to MDS/AML' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0042983 neurocutaneous syndrome 'neurocutaneous syndrome' SubClassOf 'nervous system disease' 'neurocutaneous syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0003403 testicular non-seminomatous germ cell cancer 'testicular non-seminomatous germ cell cancer' SubClassOf 'malignant testicular germ cell tumor' 'testicular non-seminomatous germ cell cancer' SubClassOf 'Testicular Non-Seminomatous Germ Cell Tumor' 'testicular non-seminomatous germ cell cancer' SubClassOf 'malignant testicular germ cell tumor' 'testicular non-seminomatous germ cell cancer' SubClassOf 'Testicular Non-Seminomatous Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0003404 adult yolk sac tumor 'adult yolk sac tumor' SubClassOf 'endodermal sinus tumor' 'adult yolk sac tumor' SubClassOf 'endodermal sinus tumor' http://purl.obolibrary.org/obo/MONDO_0003405 adult central nervous system germ cell tumor 'adult central nervous system germ cell tumor' SubClassOf 'adult germ cell tumor' 'adult central nervous system germ cell tumor' SubClassOf 'central nervous system germ cell tumor' 'adult central nervous system germ cell tumor' SubClassOf 'adult germ cell tumor' 'adult central nervous system germ cell tumor' SubClassOf 'central nervous system germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003400 childhood endodermal sinus tumor 'childhood endodermal sinus tumor' SubClassOf 'endodermal sinus tumor' 'childhood endodermal sinus tumor' SubClassOf 'malignant childhood germ cell neoplasm' 'childhood endodermal sinus tumor' SubClassOf 'endodermal sinus tumor' 'childhood endodermal sinus tumor' SubClassOf 'malignant childhood germ cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003401 central nervous system endodermal sinus tumor 'central nervous system endodermal sinus tumor' SubClassOf 'childhood endodermal sinus tumor' 'central nervous system endodermal sinus tumor' SubClassOf 'yolk sac tumor of central nervous system' 'central nervous system endodermal sinus tumor' SubClassOf 'childhood endodermal sinus tumor' 'central nervous system endodermal sinus tumor' SubClassOf 'yolk sac tumor of central nervous system' http://purl.obolibrary.org/obo/MONDO_0003406 sleep-wake disorder 'sleep-wake disorder' SubClassOf 'Sleep Disorder' 'sleep-wake disorder' SubClassOf 'Sleep Disorder' http://purl.obolibrary.org/obo/MONDO_0003408 ovarian primitive germ cell tumor 'ovarian primitive germ cell tumor' SubClassOf 'malignant germ cell tumor of ovary' 'ovarian primitive germ cell tumor' SubClassOf 'malignant germ cell tumor of ovary' http://purl.obolibrary.org/obo/MONDO_0003413 hair follicle neoplasm 'hair follicle neoplasm' SubClassOf 'epidermal appendage tumor' 'hair follicle neoplasm' SubClassOf 'disorder of pilosebaceous unit' 'hair follicle neoplasm' SubClassOf 'epidermal appendage tumor' 'hair follicle neoplasm' SubClassOf 'disorder of pilosebaceous unit' http://purl.obolibrary.org/obo/MONDO_0003410 Wolffian duct adenocarcinoma 'Wolffian duct adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Wolffian duct adenocarcinoma' SubClassOf 'mesonephric adenocarcinoma' 'Wolffian duct adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Wolffian duct adenocarcinoma' SubClassOf 'mesonephric adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003411 breast hemangiopericytoma 'breast hemangiopericytoma' SubClassOf 'hemangiopericytoma' 'breast hemangiopericytoma' SubClassOf 'hemangiopericytoma' http://purl.obolibrary.org/obo/MONDO_0003412 retroperitoneal hemangiopericytoma 'retroperitoneal hemangiopericytoma' SubClassOf 'hemangiopericytoma' 'retroperitoneal hemangiopericytoma' SubClassOf 'hemangiopericytoma' http://purl.obolibrary.org/obo/MONDO_0003419 Bartholin gland adenoma 'Bartholin gland adenoma' SubClassOf 'vulvar glandular neoplasm' 'Bartholin gland adenoma' SubClassOf 'adenoma' 'Bartholin gland adenoma' SubClassOf 'Bartholin gland benign neoplasm' 'Bartholin gland adenoma' SubClassOf 'vulvar glandular neoplasm' 'Bartholin gland adenoma' SubClassOf 'adenoma' 'Bartholin gland adenoma' SubClassOf 'Bartholin gland benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003425 ophthalmoplegia 'ophthalmoplegia' SubClassOf 'palsy' 'ophthalmoplegia' SubClassOf 'ocular motility disease' 'ophthalmoplegia' SubClassOf 'palsy' 'ophthalmoplegia' SubClassOf 'ocular motility disease' http://purl.obolibrary.org/obo/MONDO_0003427 bronchus adenoma 'bronchus adenoma' SubClassOf 'lung adenoma' 'bronchus adenoma' SubClassOf 'papillary adenoma' 'bronchus adenoma' SubClassOf 'lung adenoma' 'bronchus adenoma' SubClassOf 'papillary adenoma' http://purl.obolibrary.org/obo/MONDO_0003420 bile duct cystadenoma 'bile duct cystadenoma' SubClassOf 'Bile Duct Adenoma' 'bile duct cystadenoma' SubClassOf 'cystadenoma' 'bile duct cystadenoma' SubClassOf 'Bile Duct Adenoma' 'bile duct cystadenoma' SubClassOf 'cystadenoma' http://purl.obolibrary.org/obo/MONDO_0003422 lung adenoma 'lung adenoma' SubClassOf 'lung benign neoplasm' 'lung adenoma' SubClassOf 'adenoma' 'lung adenoma' SubClassOf 'lung benign neoplasm' 'lung adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0003423 middle ear adenoma 'middle ear adenoma' SubClassOf 'adenoma' 'middle ear adenoma' SubClassOf 'benign neoplasm of middle ear' 'middle ear adenoma' SubClassOf 'adenoma' 'middle ear adenoma' SubClassOf 'benign neoplasm of middle ear' http://purl.obolibrary.org/obo/MONDO_0003428 brain hemangioma 'brain hemangioma' SubClassOf 'intracranial hemangioma' 'brain hemangioma' SubClassOf 'intracranial hemangioma' http://purl.obolibrary.org/obo/MONDO_0003429 functioning pituitary gland adenoma 'functioning pituitary gland adenoma' SubClassOf 'functioning pituitary gland neoplasm' 'functioning pituitary gland adenoma' SubClassOf 'Pituitary Gland Adenoma' 'functioning pituitary gland adenoma' SubClassOf 'functioning pituitary gland neoplasm' 'functioning pituitary gland adenoma' SubClassOf 'Pituitary Gland Adenoma' http://purl.obolibrary.org/obo/MONDO_0017838 sclerosteosis 'sclerosteosis' SubClassOf 'hyperostosis' 'sclerosteosis' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0017839 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form' SubClassOf 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0017836 erythrokeratoderma en cocardes 'erythrokeratoderma en cocardes' SubClassOf 'erythrokeratoderma' 'erythrokeratoderma en cocardes' SubClassOf 'erythrokeratoderma' http://purl.obolibrary.org/obo/MONDO_0017837 multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'coagulation protein disease' 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'syndromic disease' 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'coagulation protein disease' 'multiple sclerosis-ichthyosis-factor VIII deficiency syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017830 severe Canavan disease 'severe Canavan disease' SubClassOf 'Canavan disease' 'severe Canavan disease' SubClassOf 'Canavan disease' http://purl.obolibrary.org/obo/MONDO_0017831 mild Canavan disease 'mild Canavan disease' SubClassOf 'Canavan disease' 'mild Canavan disease' SubClassOf 'Canavan disease' http://purl.obolibrary.org/obo/MONDO_0003204 villous adenocarcinoma 'villous adenocarcinoma' SubClassOf 'adenocarcinoma' 'villous adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003205 renal pelvis adenocarcinoma 'renal pelvis adenocarcinoma' SubClassOf 'renal cell carcinoma' 'renal pelvis adenocarcinoma' SubClassOf 'renal pelvis carcinoma' 'renal pelvis adenocarcinoma' SubClassOf 'renal cell carcinoma' 'renal pelvis adenocarcinoma' SubClassOf 'renal pelvis carcinoma' http://purl.obolibrary.org/obo/MONDO_0003206 acquired hemangioma 'acquired hemangioma' SubClassOf 'hemangioma' 'acquired hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0003200 urethra adenocarcinoma 'urethra adenocarcinoma' SubClassOf 'adenocarcinoma' 'urethra adenocarcinoma' SubClassOf 'carcinoma of urethra' 'urethra adenocarcinoma' SubClassOf 'adenocarcinoma' 'urethra adenocarcinoma' SubClassOf 'carcinoma of urethra' http://purl.obolibrary.org/obo/MONDO_0017849 Siegler-Brewer-Carey syndrome 'Siegler-Brewer-Carey syndrome' SubClassOf 'respiratory system disease' 'Siegler-Brewer-Carey syndrome' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0017845 spastic ataxia 'spastic ataxia' SubClassOf 'hereditary ataxia' 'spastic ataxia' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0017846 autosomal dominant spastic ataxia 'autosomal dominant spastic ataxia' SubClassOf 'spastic ataxia' 'autosomal dominant spastic ataxia' SubClassOf 'spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0017847 autosomal recessive spastic ataxia 'autosomal recessive spastic ataxia' SubClassOf 'spastic ataxia' 'autosomal recessive spastic ataxia' SubClassOf 'spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0017842 Senior-Loken syndrome 'Senior-Loken syndrome' SubClassOf 'ciliopathy' 'Senior-Loken syndrome' SubClassOf 'autosomal recessive disease' 'Senior-Loken syndrome' SubClassOf 'inherited renal tubular disease' 'Senior-Loken syndrome' SubClassOf 'ciliopathy' 'Senior-Loken syndrome' SubClassOf 'inherited renal tubular disease' 'Senior-Loken syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0017840 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form' SubClassOf 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0003209 thymus gland adenocarcinoma 'thymus gland adenocarcinoma' SubClassOf 'Thymic Carcinoma' 'thymus gland adenocarcinoma' SubClassOf 'adenocarcinoma' 'thymus gland adenocarcinoma' SubClassOf 'Thymic Carcinoma' 'thymus gland adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003215 apocrine sweat gland cancer 'apocrine sweat gland cancer' SubClassOf 'apocrine sweat gland neoplasm' 'apocrine sweat gland cancer' SubClassOf 'sweat gland cancer' 'apocrine sweat gland cancer' SubClassOf 'apocrine sweat gland neoplasm' 'apocrine sweat gland cancer' SubClassOf 'sweat gland cancer' http://purl.obolibrary.org/obo/MONDO_0003216 ureter adenocarcinoma 'ureter adenocarcinoma' SubClassOf 'Ureter Carcinoma' 'ureter adenocarcinoma' SubClassOf 'adenocarcinoma' 'ureter adenocarcinoma' SubClassOf 'Ureter Carcinoma' 'ureter adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003218 adenocarcinoma in situ 'adenocarcinoma in situ' SubClassOf 'in situ carcinoma' 'adenocarcinoma in situ' EquivalentTo 'in situ carcinoma' and 'adenocarcinoma' 'adenocarcinoma in situ' SubClassOf 'adenocarcinoma' 'adenocarcinoma in situ' SubClassOf 'in situ carcinoma' 'adenocarcinoma in situ' EquivalentTo 'in situ carcinoma' and 'adenocarcinoma' 'adenocarcinoma in situ' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003211 nasal cavity adenocarcinoma 'nasal cavity adenocarcinoma' SubClassOf 'nasal cavity carcinoma' 'nasal cavity adenocarcinoma' SubClassOf 'adenocarcinoma' 'nasal cavity adenocarcinoma' SubClassOf 'nasal cavity carcinoma' 'nasal cavity adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003212 nasal cavity carcinoma 'nasal cavity carcinoma' SubClassOf 'nasal cavity cancer' 'nasal cavity carcinoma' SubClassOf 'head and neck carcinoma' 'nasal cavity carcinoma' SubClassOf 'nasal cavity cancer' 'nasal cavity carcinoma' SubClassOf 'head and neck carcinoma' http://purl.obolibrary.org/obo/MONDO_0003214 apocrine adenocarcinoma 'apocrine adenocarcinoma' SubClassOf 'sweat gland carcinoma' 'apocrine adenocarcinoma' SubClassOf 'apocrine sweat gland cancer' 'apocrine adenocarcinoma' SubClassOf 'sweat gland carcinoma' 'apocrine adenocarcinoma' SubClassOf 'apocrine sweat gland cancer' http://purl.obolibrary.org/obo/MONDO_0017856 X-linked spasticity-intellectual disability-epilepsy syndrome 'X-linked spasticity-intellectual disability-epilepsy syndrome' SubClassOf 'syndromic disease' 'X-linked spasticity-intellectual disability-epilepsy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017857 spina bifida-hypospadias syndrome 'spina bifida-hypospadias syndrome' SubClassOf 'syndromic disease' 'spina bifida-hypospadias syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017853 hypersensitivity pneumonitis 'hypersensitivity pneumonitis' SubClassOf 'interstitial lung disease' 'hypersensitivity pneumonitis' SubClassOf 'allergic respiratory disease' 'hypersensitivity pneumonitis' SubClassOf 'interstitial lung disease' 'hypersensitivity pneumonitis' SubClassOf 'allergic respiratory disease' http://purl.obolibrary.org/obo/MONDO_0017855 T-B- severe combined immunodeficiency 'T-B- severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' 'T-B- severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0017851 erythrokeratodermia variabilis 'erythrokeratodermia variabilis' SubClassOf 'diffuse palmoplantar keratoderma' 'erythrokeratodermia variabilis' SubClassOf 'erythrokeratoderma' 'erythrokeratodermia variabilis' SubClassOf 'diffuse palmoplantar keratoderma' 'erythrokeratodermia variabilis' SubClassOf 'erythrokeratoderma' http://purl.obolibrary.org/obo/MONDO_0003219 gastroesophageal junction adenocarcinoma 'gastroesophageal junction adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastroesophageal junction adenocarcinoma' SubClassOf 'Digestive System Carcinoma' 'gastroesophageal junction adenocarcinoma' SubClassOf 'adenocarcinoma' 'gastroesophageal junction adenocarcinoma' SubClassOf 'Digestive System Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003222 central nervous system melanocytic neoplasm 'central nervous system melanocytic neoplasm' SubClassOf 'central nervous system cancer' 'central nervous system melanocytic neoplasm' EquivalentTo 'melanocytic neoplasm' and ('disease has location' some 'central nervous system') 'central nervous system melanocytic neoplasm' SubClassOf 'melanocytic neoplasm' 'central nervous system melanocytic neoplasm' SubClassOf 'central nervous system cancer' 'central nervous system melanocytic neoplasm' EquivalentTo 'melanocytic neoplasm' and ('disease has location' some 'central nervous system') 'central nervous system melanocytic neoplasm' SubClassOf 'melanocytic neoplasm' http://purl.obolibrary.org/obo/MONDO_0003223 meninges hemangiopericytoma 'meninges hemangiopericytoma' SubClassOf 'hemangiopericytoma' 'meninges hemangiopericytoma' SubClassOf 'hemangiopericytoma' http://purl.obolibrary.org/obo/MONDO_0003225 bone marrow disorder 'bone marrow disorder' SubClassOf 'disease has location' some 'bone marrow' 'bone marrow disorder' SubClassOf 'hematologic disease' 'bone marrow disorder' SubClassOf 'disease has location' some 'bone marrow' 'bone marrow disorder' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0017867 distal 17p13.1 microdeletion syndrome 'distal 17p13.1 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'distal 17p13.1 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017868 diencephalic-mesencephalic junction dysplasia 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'disorder of development or morphogenesis' 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'genetic disorder' 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'disorder of development or morphogenesis' 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017869 chondroectodermal dysplasia with night blindness 'chondroectodermal dysplasia with night blindness' SubClassOf 'ectodermal dysplasia syndrome' 'chondroectodermal dysplasia with night blindness' SubClassOf 'skeletal dysplasia' 'chondroectodermal dysplasia with night blindness' SubClassOf 'eye disease' 'chondroectodermal dysplasia with night blindness' SubClassOf 'ectodermal dysplasia syndrome' 'chondroectodermal dysplasia with night blindness' SubClassOf 'skeletal dysplasia' 'chondroectodermal dysplasia with night blindness' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0003237 adenomyoma of uterine corpus 'adenomyoma of uterine corpus' SubClassOf 'adenomyoma' 'adenomyoma of uterine corpus' SubClassOf 'adenomyoma' http://purl.obolibrary.org/obo/MONDO_0003234 optic nerve astrocytoma 'optic nerve astrocytoma' SubClassOf 'optic nerve glioblastoma' 'optic nerve astrocytoma' SubClassOf 'optic nerve glioblastoma' http://purl.obolibrary.org/obo/MONDO_0003236 atypical polypoid adenomyoma 'atypical polypoid adenomyoma' SubClassOf 'adenomyoma' 'atypical polypoid adenomyoma' SubClassOf 'adenomyoma' http://purl.obolibrary.org/obo/MONDO_0003248 adult pineal parenchymal tumor 'adult pineal parenchymal tumor' SubClassOf 'pineal parenchymal cell neoplasm' 'adult pineal parenchymal tumor' SubClassOf 'pineal parenchymal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003249 pineal gland cancer 'pineal gland cancer' SubClassOf 'pineal body neoplasm' 'pineal gland cancer' SubClassOf 'pineal body neoplasm' http://purl.obolibrary.org/obo/MONDO_0003244 central nervous system mesenchymal non-meningothelial tumor 'central nervous system mesenchymal non-meningothelial tumor' SubClassOf 'Soft Tissue Neoplasm' 'central nervous system mesenchymal non-meningothelial tumor' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0003241 central nervous system hemangioma 'central nervous system hemangioma' SubClassOf 'hemangioma' 'central nervous system hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0003243 hepatocellular clear cell carcinoma 'hepatocellular clear cell carcinoma' SubClassOf 'hepatocellular carcinoma' 'hepatocellular clear cell carcinoma' SubClassOf 'clear cell adenocarcinoma' 'hepatocellular clear cell carcinoma' SubClassOf 'hepatocellular carcinoma' 'hepatocellular clear cell carcinoma' SubClassOf 'clear cell adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma 'MIT family translocation renal cell carcinoma' SubClassOf 'renal cell carcinoma' 'MIT family translocation renal cell carcinoma' SubClassOf 'renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003255 mediastinal granular cell myoblastoma 'mediastinal granular cell myoblastoma' SubClassOf 'Granular Cell Tumor' 'mediastinal granular cell myoblastoma' SubClassOf 'neoplasm of mediastinum' 'mediastinal granular cell myoblastoma' SubClassOf 'Granular Cell Tumor' 'mediastinal granular cell myoblastoma' SubClassOf 'neoplasm of mediastinum' http://purl.obolibrary.org/obo/MONDO_0003257 posterior pituitary gland neoplasm 'posterior pituitary gland neoplasm' SubClassOf 'pituitary tumor' 'posterior pituitary gland neoplasm' SubClassOf 'disease has location' some 'neurohypophysis' 'posterior pituitary gland neoplasm' SubClassOf 'pituitary tumor' 'posterior pituitary gland neoplasm' SubClassOf 'disease has location' some 'neurohypophysis' http://purl.obolibrary.org/obo/MONDO_0003251 esophageal granular cell tumor 'esophageal granular cell tumor' SubClassOf 'neoplasm of esophagus' 'esophageal granular cell tumor' SubClassOf 'Granular Cell Tumor' 'esophageal granular cell tumor' SubClassOf 'neoplasm of esophagus' 'esophageal granular cell tumor' SubClassOf 'Granular Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0003252 granular cell cancer 'granular cell cancer' SubClassOf 'Granular Cell Tumor' 'granular cell cancer' SubClassOf 'Granular Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0003253 vulvar granular cell tumor 'vulvar granular cell tumor' SubClassOf 'vulvar neoplasm' 'vulvar granular cell tumor' EquivalentTo 'Granular Cell Tumor' and ('disease has location' some 'mammalian vulva') 'vulvar granular cell tumor' SubClassOf 'Granular Cell Tumor' 'vulvar granular cell tumor' SubClassOf 'vulvar neoplasm' 'vulvar granular cell tumor' EquivalentTo 'Granular Cell Tumor' and ('disease has location' some 'mammalian vulva') 'vulvar granular cell tumor' SubClassOf 'Granular Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0003250 benign granular cell tumor 'benign granular cell tumor' SubClassOf 'Granular Cell Tumor' 'benign granular cell tumor' SubClassOf 'Granular Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma 'familial nonmedullary thyroid carcinoma' SubClassOf 'thyroid carcinoma' 'familial nonmedullary thyroid carcinoma' SubClassOf 'thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0017892 autosomal recessive myogenic arthrogryposis multiplex congenita 'autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'arthrogryposis multiplex congenita' 'autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'congenital muscular dystrophy' 'autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'arthrogryposis multiplex congenita' 'autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0017894 acute myeloid leukemia with CEBPA somatic mutations 'acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0017895 familial papillary or follicular thyroid carcinoma 'familial papillary or follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'familial papillary or follicular thyroid carcinoma' SubClassOf 'familial nonmedullary thyroid carcinoma' 'familial papillary or follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'familial papillary or follicular thyroid carcinoma' SubClassOf 'familial nonmedullary thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0003268 mixed glioma 'mixed glioma' SubClassOf 'mixed neoplasm' 'mixed glioma' SubClassOf 'glioma' 'mixed glioma' SubClassOf 'mixed neoplasm' 'mixed glioma' SubClassOf 'glioma' http://purl.obolibrary.org/obo/MONDO_0003263 childhood cerebellar neoplasm 'childhood cerebellar neoplasm' EquivalentTo 'cerebellar neoplasm' and 'childhood infratentorial neoplasm' 'childhood cerebellar neoplasm' SubClassOf 'cerebellar neoplasm' 'childhood cerebellar neoplasm' SubClassOf 'childhood infratentorial neoplasm' 'childhood cerebellar neoplasm' EquivalentTo 'cerebellar neoplasm' and 'childhood infratentorial neoplasm' 'childhood cerebellar neoplasm' SubClassOf 'cerebellar neoplasm' 'childhood cerebellar neoplasm' SubClassOf 'childhood infratentorial neoplasm' http://purl.obolibrary.org/obo/MONDO_0003260 adult cerebellar neoplasm 'adult cerebellar neoplasm' SubClassOf 'cerebellar neoplasm' 'adult cerebellar neoplasm' SubClassOf 'cerebellar neoplasm' http://purl.obolibrary.org/obo/MONDO_0003277 malignant ear neoplasm 'malignant ear neoplasm' SubClassOf 'head and neck malignant neoplasia' 'malignant ear neoplasm' SubClassOf 'ear neoplasm' 'malignant ear neoplasm' SubClassOf 'head and neck malignant neoplasia' 'malignant ear neoplasm' SubClassOf 'ear neoplasm' http://purl.obolibrary.org/obo/MONDO_0003274 thoracic cancer 'thoracic cancer' SubClassOf 'cancer' 'thoracic cancer' SubClassOf 'neoplasm of thorax' 'thoracic cancer' SubClassOf 'cancer' 'thoracic cancer' SubClassOf 'neoplasm of thorax' http://purl.obolibrary.org/obo/MONDO_0003275 middle ear cancer 'middle ear cancer' SubClassOf 'malignant ear neoplasm' 'middle ear cancer' SubClassOf 'neoplasm of middle ear' 'middle ear cancer' SubClassOf 'malignant ear neoplasm' 'middle ear cancer' SubClassOf 'neoplasm of middle ear' http://purl.obolibrary.org/obo/MONDO_0003276 middle ear disorder 'middle ear disorder' SubClassOf 'auditory system disease' 'middle ear disorder' SubClassOf 'disease has location' some 'middle ear' 'middle ear disorder' SubClassOf 'disorder of ear' 'middle ear disorder' SubClassOf 'disease has location' some 'middle ear' 'middle ear disorder' SubClassOf 'auditory system disease' 'middle ear disorder' SubClassOf 'disorder of ear' http://purl.obolibrary.org/obo/MONDO_0003284 mediastinum leiomyoma 'mediastinum leiomyoma' SubClassOf 'leiomyoma' 'mediastinum leiomyoma' SubClassOf 'benign neoplasm of mediastinum' 'mediastinum leiomyoma' SubClassOf 'leiomyoma' 'mediastinum leiomyoma' SubClassOf 'benign neoplasm of mediastinum' http://purl.obolibrary.org/obo/MONDO_0003285 fallopian tube leiomyoma 'fallopian tube leiomyoma' SubClassOf 'leiomyoma' 'fallopian tube leiomyoma' SubClassOf 'fallopian tube benign neoplasm' 'fallopian tube leiomyoma' SubClassOf 'leiomyoma' 'fallopian tube leiomyoma' SubClassOf 'fallopian tube benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003286 extrahepatic bile duct leiomyoma 'extrahepatic bile duct leiomyoma' SubClassOf 'extrahepatic bile duct neoplasm' 'extrahepatic bile duct leiomyoma' SubClassOf 'extrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0003287 central nervous system leiomyoma 'central nervous system leiomyoma' SubClassOf 'leiomyoma' 'central nervous system leiomyoma' SubClassOf 'central nervous system organ benign neoplasm' 'central nervous system leiomyoma' SubClassOf 'leiomyoma' 'central nervous system leiomyoma' SubClassOf 'central nervous system organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003281 ovarian cystic teratoma 'ovarian cystic teratoma' SubClassOf 'cystic teratoma' 'ovarian cystic teratoma' SubClassOf 'cystic teratoma' http://purl.obolibrary.org/obo/MONDO_0003299 colorectal leiomyoma 'colorectal leiomyoma' SubClassOf 'leiomyoma' 'colorectal leiomyoma' SubClassOf 'benign neoplasm of large intestine' 'colorectal leiomyoma' SubClassOf 'colorectal neoplasm' 'colorectal leiomyoma' SubClassOf 'leiomyoma' 'colorectal leiomyoma' SubClassOf 'benign neoplasm of large intestine' 'colorectal leiomyoma' SubClassOf 'colorectal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003295 leiomyomatosis 'leiomyomatosis' SubClassOf 'leiomyoma' 'leiomyomatosis' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/MONDO_0003297 gallbladder leiomyoma 'gallbladder leiomyoma' SubClassOf 'benign neoplasm of gallbladder' 'gallbladder leiomyoma' SubClassOf 'leiomyoma' 'gallbladder leiomyoma' SubClassOf 'benign neoplasm of gallbladder' 'gallbladder leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/MONDO_0003298 vulvar leiomyoma 'vulvar leiomyoma' SubClassOf 'leiomyoma' 'vulvar leiomyoma' SubClassOf 'vulvar benign neoplasm' 'vulvar leiomyoma' SubClassOf 'leiomyoma' 'vulvar leiomyoma' SubClassOf 'vulvar benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003291 leiomyoma cutis 'leiomyoma cutis' SubClassOf 'benign neoplasm of skin' 'leiomyoma cutis' SubClassOf 'leiomyoma' 'leiomyoma cutis' SubClassOf 'dermis tumor' 'leiomyoma cutis' SubClassOf 'benign neoplasm of skin' 'leiomyoma cutis' SubClassOf 'leiomyoma' 'leiomyoma cutis' SubClassOf 'dermis tumor' http://purl.obolibrary.org/obo/MONDO_0003292 anus leiomyoma 'anus leiomyoma' SubClassOf 'benign neoplasm of anus' 'anus leiomyoma' SubClassOf 'benign neoplasm of anus' http://purl.obolibrary.org/obo/MONDO_0003293 lung leiomyoma 'lung leiomyoma' SubClassOf 'lung benign neoplasm' 'lung leiomyoma' SubClassOf 'leiomyoma' 'lung leiomyoma' SubClassOf 'lung benign neoplasm' 'lung leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/MONDO_0003294 pericardium leiomyoma 'pericardium leiomyoma' SubClassOf 'benign neoplasm of pericardium' 'pericardium leiomyoma' SubClassOf 'leiomyoma' 'pericardium leiomyoma' SubClassOf 'benign neoplasm of pericardium' 'pericardium leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/GO_0005975 carbohydrate metabolic process 'carbohydrate metabolic process' SubClassOf 'organic substance metabolic process' http://purl.obolibrary.org/obo/MONDO_0017909 inherited glutathione synthetase deficiency 'inherited glutathione synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'inherited glutathione synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017904 steroid dehydrogenase deficiency-dental anomalies syndrome 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'metabolic disease' 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0017905 X-linked Mendelian susceptibility to mycobacterial diseases 'X-linked Mendelian susceptibility to mycobacterial diseases' SubClassOf 'inherited susceptibility to mycobacterial diseases' 'X-linked Mendelian susceptibility to mycobacterial diseases' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0017906 amyloidosis cutis dyschromia 'amyloidosis cutis dyschromia' SubClassOf 'primary cutaneous amyloidosis' 'amyloidosis cutis dyschromia' SubClassOf 'primary cutaneous amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017907 primary lymphoma of the conjunctiva 'primary lymphoma of the conjunctiva' SubClassOf 'primary organ-specific lymphoma' 'primary lymphoma of the conjunctiva' SubClassOf 'primary organ-specific lymphoma' http://purl.obolibrary.org/obo/MONDO_0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'inherited disease susceptibility' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'inherited disease susceptibility' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'mycobacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'inherited disease susceptibility' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'mycobacterial infectious disease' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' 'autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0017919 exstrophy-epispadias complex 'exstrophy-epispadias complex' SubClassOf 'kidney disease' 'exstrophy-epispadias complex' SubClassOf 'urogenital tract malformation' 'exstrophy-epispadias complex' SubClassOf 'kidney disease' 'exstrophy-epispadias complex' SubClassOf 'urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0017917 maternally-inherited spastic paraplegia 'maternally-inherited spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' 'maternally-inherited spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 'white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome' SubClassOf 'syndromic disease' 'white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017913 pure or complex hereditary spastic paraplegia 'pure or complex hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' 'pure or complex hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017910 dehydrated hereditary stomatocytosis 'dehydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' 'dehydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0017927 severe lateral tibial bowing with short stature 'severe lateral tibial bowing with short stature' SubClassOf 'bent bone dysplasia' 'severe lateral tibial bowing with short stature' SubClassOf 'bent bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0017928 9p13 microdeletion syndrome '9p13 microdeletion syndrome' SubClassOf 'chromosome 9p deletion syndrome' '9p13 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '9p13 microdeletion syndrome' SubClassOf 'chromosome 9p deletion syndrome' '9p13 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017929 congenital achiasma 'congenital achiasma' SubClassOf 'disorder of development or morphogenesis' 'congenital achiasma' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017923 multiple synostoses syndrome 'multiple synostoses syndrome' SubClassOf 'syndromic disease' 'multiple synostoses syndrome' SubClassOf 'genetic disorder' 'multiple synostoses syndrome' SubClassOf 'syndromic disease' 'multiple synostoses syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome 'central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf 'syndromic disease' 'central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017925 T-cell immunodeficiency with epidermodysplasia verruciformis 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'inborn error of immunity' 'T-cell immunodeficiency with epidermodysplasia verruciformis' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'syndromic disease' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome 'hearing loss-familial salivary gland insensitivity to aldosterone syndrome' SubClassOf 'syndromic disease' 'hearing loss-familial salivary gland insensitivity to aldosterone syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 'autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0017939 classic multiminicore myopathy 'classic multiminicore myopathy' SubClassOf 'autosomal recessive titinopathy' 'classic multiminicore myopathy' SubClassOf 'multiminicore myopathy' 'classic multiminicore myopathy' SubClassOf 'autosomal recessive titinopathy' 'classic multiminicore myopathy' SubClassOf 'multiminicore myopathy' http://purl.obolibrary.org/obo/MONDO_0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 'hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 'aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017935 hyperinsulinism due to HNF1A deficiency 'hyperinsulinism due to HNF1A deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'hyperinsulinism due to HNF1A deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0017936 benign Samaritan congenital myopathy 'benign Samaritan congenital myopathy' SubClassOf 'congenital myopathy' 'benign Samaritan congenital myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0017930 mixed sclerosing bone dystrophy with extra-skeletal manifestations 'mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'bone disease' 'mixed sclerosing bone dystrophy with extra-skeletal manifestations' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0017931 hereditary inclusion body myopathy type 4 'hereditary inclusion body myopathy type 4' SubClassOf 'hereditary inclusion-body myopathy' 'hereditary inclusion body myopathy type 4' SubClassOf 'hereditary inclusion-body myopathy' http://purl.obolibrary.org/obo/MONDO_0017932 muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 'muscular hypertrophy-hepatomegaly-polyhydramnios syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'muscular hypertrophy-hepatomegaly-polyhydramnios syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0003300 appendix leiomyoma 'appendix leiomyoma' SubClassOf 'benign neoplasm of appendix' 'appendix leiomyoma' SubClassOf 'benign neoplasm of appendix' http://purl.obolibrary.org/obo/MONDO_0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 'autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0017719 gangliosidosis 'gangliosidosis' SubClassOf 'sphingolipidosis' 'gangliosidosis' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0017713 disorder of fatty acid oxidation and ketogenesis 'disorder of fatty acid oxidation and ketogenesis' SubClassOf 'disorder of fatty acid and ketone body metabolism' 'disorder of fatty acid oxidation and ketogenesis' SubClassOf 'disorder of fatty acid and ketone body metabolism' http://purl.obolibrary.org/obo/MONDO_0017714 acyl-CoA dehydrogenase deficiency 'acyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'acyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0017715 3-hydroxyacyl-CoA dehydrogenase deficiency '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' '3-hydroxyacyl-CoA dehydrogenase deficiency' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0017716 disorder of carnitine cycle and carnitine transport 'disorder of carnitine cycle and carnitine transport' SubClassOf 'disorder of fatty acid and ketone body metabolism' 'disorder of carnitine cycle and carnitine transport' SubClassOf 'disorder of fatty acid and ketone body metabolism' http://www.ebi.ac.uk/efo/EFO_0004283 goiter 'goiter' SubClassOf 'thyroid disease' 'goiter' SubClassOf 'thyroid disease' http://www.ebi.ac.uk/efo/EFO_0004284 upper aerodigestive tract neoplasm 'upper aerodigestive tract neoplasm' SubClassOf 'neoplasm' 'upper aerodigestive tract neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0004282 thoracic aortic aneurysm 'thoracic aortic aneurysm' SubClassOf 'aortic aneurysm' 'thoracic aortic aneurysm' SubClassOf 'aortic aneurysm' http://www.ebi.ac.uk/efo/EFO_0004287 ventricular fibrillation 'ventricular fibrillation' SubClassOf 'cardiac rhythm disease' 'ventricular fibrillation' SubClassOf 'cardiac rhythm disease' http://www.ebi.ac.uk/efo/EFO_0004288 colonic neoplasm 'colonic neoplasm' SubClassOf 'colonic disorder' 'colonic neoplasm' SubClassOf 'colorectal neoplasm' 'colonic neoplasm' SubClassOf 'colorectal neoplasm' 'colonic neoplasm' SubClassOf 'colonic disorder' http://www.ebi.ac.uk/efo/EFO_0004286 venous thromboembolism 'venous thromboembolism' SubClassOf 'vascular disease' 'venous thromboembolism' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0004289 lymphoid leukemia 'lymphoid leukemia' SubClassOf 'leukemia' 'lymphoid leukemia' SubClassOf 'lymphoid neoplasm' 'lymphoid leukemia' SubClassOf 'leukemia' 'lymphoid leukemia' SubClassOf 'lymphoid neoplasm' http://purl.obolibrary.org/obo/MONDO_0017728 Tay-Sachs disease, B1 variant 'Tay-Sachs disease, B1 variant' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B1 variant' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017724 Tay-Sachs disease, b variant, infantile form 'Tay-Sachs disease, b variant, infantile form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, b variant, infantile form' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017725 Tay-Sachs disease, b variant, juvenile form 'Tay-Sachs disease, b variant, juvenile form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, b variant, juvenile form' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017726 Tay-Sachs disease, B variant, adult form 'Tay-Sachs disease, B variant, adult form' SubClassOf 'Tay-Sachs disease' 'Tay-Sachs disease, B variant, adult form' SubClassOf 'Tay-Sachs disease' http://purl.obolibrary.org/obo/MONDO_0017720 GM2 gangliosidosis 'GM2 gangliosidosis' SubClassOf 'inherited neurodegenerative disorder' 'GM2 gangliosidosis' SubClassOf 'gangliosidosis' 'GM2 gangliosidosis' SubClassOf 'inherited neurodegenerative disorder' 'GM2 gangliosidosis' SubClassOf 'gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0017721 Sandhoff disease, infantile form 'Sandhoff disease, infantile form' SubClassOf 'Sandhoff disease' 'Sandhoff disease, infantile form' SubClassOf 'Sandhoff disease' http://purl.obolibrary.org/obo/MONDO_0017722 Sandhoff disease, juvenile form 'Sandhoff disease, juvenile form' SubClassOf 'Sandhoff disease' 'Sandhoff disease, juvenile form' SubClassOf 'Sandhoff disease' http://purl.obolibrary.org/obo/MONDO_0017723 Sandhoff disease, adult form 'Sandhoff disease, adult form' SubClassOf 'Sandhoff disease' 'Sandhoff disease, adult form' SubClassOf 'Sandhoff disease' http://purl.obolibrary.org/obo/MONDO_0017739 disorder of lysosomal-related organelles 'disorder of lysosomal-related organelles' SubClassOf 'inborn errors of metabolism' 'disorder of lysosomal-related organelles' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0017735 congenital aortic valve stenosis 'congenital aortic valve stenosis' SubClassOf 'aortic valve stenosis' 'congenital aortic valve stenosis' SubClassOf 'aortic valve stenosis' http://purl.obolibrary.org/obo/MONDO_0017736 disorder of sialic acid metabolism 'disorder of sialic acid metabolism' SubClassOf 'lysosomal storage disease' 'disorder of sialic acid metabolism' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0017737 intermediate severe Salla disease 'intermediate severe Salla disease' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'intermediate severe Salla disease' SubClassOf 'free sialic acid storage disease' 'intermediate severe Salla disease' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'intermediate severe Salla disease' SubClassOf 'free sialic acid storage disease' http://purl.obolibrary.org/obo/MONDO_0017738 lysosomal glycogen storage disease 'lysosomal glycogen storage disease' SubClassOf 'lysosomal storage disease' 'lysosomal glycogen storage disease' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0017731 glycoproteinosis 'glycoproteinosis' SubClassOf 'lysosomal storage disease' 'glycoproteinosis' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0017732 alpha-mannosidosis, infantile form 'alpha-mannosidosis, infantile form' SubClassOf 'alpha-mannosidosis' 'alpha-mannosidosis, infantile form' SubClassOf 'alpha-mannosidosis' http://purl.obolibrary.org/obo/MONDO_0017733 alpha-mannosidosis, adult form 'alpha-mannosidosis, adult form' SubClassOf 'alpha-mannosidosis' 'alpha-mannosidosis, adult form' SubClassOf 'alpha-mannosidosis' http://purl.obolibrary.org/obo/MONDO_0017734 sialidosis 'sialidosis' SubClassOf 'oligosaccharidosis' 'sialidosis' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0003107 infratentorial cancer 'infratentorial cancer' SubClassOf 'brain cancer' 'infratentorial cancer' SubClassOf 'brain cancer' http://purl.obolibrary.org/obo/MONDO_0003103 nerve root neoplasm 'nerve root neoplasm' SubClassOf 'tumour of cranial and spinal nerves' 'nerve root neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://purl.obolibrary.org/obo/MONDO_0003104 epicardium cancer 'epicardium cancer' SubClassOf 'pericardium cancer' 'epicardium cancer' SubClassOf 'neoplasm of epicardium' 'epicardium cancer' SubClassOf 'pericardium cancer' 'epicardium cancer' SubClassOf 'neoplasm of epicardium' http://purl.obolibrary.org/obo/MONDO_0003100 nerve plexus neoplasm 'nerve plexus neoplasm' SubClassOf 'tumour of cranial and spinal nerves' 'nerve plexus neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://purl.obolibrary.org/obo/MONDO_0017746 atypical Rett syndrome 'atypical Rett syndrome' SubClassOf 'Neurodevelopmental disorder' 'atypical Rett syndrome' SubClassOf 'disease shares features of' some 'Rett syndrome' 'atypical Rett syndrome' SubClassOf 'Neurodevelopmental disorder' 'atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Rett syndrome' http://purl.obolibrary.org/obo/MONDO_0017747 disorder of fucoglycosan synthesis 'disorder of fucoglycosan synthesis' SubClassOf 'disorder of protein O-glycosylation' 'disorder of fucoglycosan synthesis' SubClassOf 'disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'congenital disorder of glycosylation' 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'disorder of GPI anchor biosynthesis' 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'congenital disorder of glycosylation' 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'disorder of GPI anchor biosynthesis' http://purl.obolibrary.org/obo/MONDO_0017749 disorder of multiple glycosylation 'disorder of multiple glycosylation' SubClassOf 'congenital disorder of glycosylation' 'disorder of multiple glycosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0017740 disorder of protein N-glycosylation 'disorder of protein N-glycosylation' SubClassOf 'congenital disorder of glycosylation' 'disorder of protein N-glycosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0017741 disorder of protein O-glycosylation 'disorder of protein O-glycosylation' SubClassOf 'congenital disorder of glycosylation' 'disorder of protein O-glycosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0003112 malignant gastric germ cell tumor 'malignant gastric germ cell tumor' SubClassOf 'gastric cancer' 'malignant gastric germ cell tumor' SubClassOf 'extragonadal germ cell cancer' 'malignant gastric germ cell tumor' SubClassOf 'gastric cancer' 'malignant gastric germ cell tumor' SubClassOf 'extragonadal germ cell cancer' http://purl.obolibrary.org/obo/MONDO_0003113 extragonadal germ cell cancer 'extragonadal germ cell cancer' SubClassOf 'extragonadal germ cell tumor' 'extragonadal germ cell cancer' SubClassOf 'Malignant Germ Cell Tumor' 'extragonadal germ cell cancer' SubClassOf 'extragonadal germ cell tumor' 'extragonadal germ cell cancer' SubClassOf 'Malignant Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0003110 skin hemangioma 'skin hemangioma' SubClassOf 'hemangioma' 'skin hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0003111 gastric neuroendocrine neoplasm 'gastric neuroendocrine neoplasm' SubClassOf 'stomach neoplasm' 'gastric neuroendocrine neoplasm' SubClassOf 'stomach neoplasm' http://purl.obolibrary.org/obo/MONDO_0017757 disorder of metabolite absorption and transport 'disorder of metabolite absorption and transport' SubClassOf 'inborn errors of metabolism' 'disorder of metabolite absorption and transport' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0017758 disorder of vitamin and non-protein cofactor absorption and transport 'disorder of vitamin and non-protein cofactor absorption and transport' SubClassOf 'disorder of metabolite absorption and transport' 'disorder of vitamin and non-protein cofactor absorption and transport' SubClassOf 'disorder of metabolite absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017759 disorder of catecholamine synthesis 'disorder of catecholamine synthesis' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' 'disorder of catecholamine synthesis' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0017754 inborn disorder of porphyrin metabolism 'inborn disorder of porphyrin metabolism' SubClassOf 'porphyrin metabolism disease' 'inborn disorder of porphyrin metabolism' SubClassOf 'inborn errors of metabolism' 'inborn disorder of porphyrin metabolism' SubClassOf 'porphyrin metabolism disease' 'inborn disorder of porphyrin metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0017755 inborn disorder of bilirubin metabolism 'inborn disorder of bilirubin metabolism' SubClassOf 'inborn disorder of porphyrin metabolism' 'inborn disorder of bilirubin metabolism' SubClassOf 'inborn disorder of porphyrin metabolism' http://purl.obolibrary.org/obo/MONDO_0017750 defect in conserved oligomeric Golgi complex 'defect in conserved oligomeric Golgi complex' SubClassOf 'disorder of multiple glycosylation' 'defect in conserved oligomeric Golgi complex' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0017752 defect in V-ATPase 'defect in V-ATPase' SubClassOf 'disorder of multiple glycosylation' 'defect in V-ATPase' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0003124 testicular Leydig cell tumor 'testicular Leydig cell tumor' SubClassOf 'Leydig Cell Tumor' 'testicular Leydig cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' 'testicular Leydig cell tumor' SubClassOf 'Leydig Cell Tumor' 'testicular Leydig cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003125 testicular sex cord-stromal neoplasm 'testicular sex cord-stromal neoplasm' SubClassOf 'sex cord-stromal tumor' 'testicular sex cord-stromal neoplasm' SubClassOf 'neoplasm of testis' 'testicular sex cord-stromal neoplasm' SubClassOf 'sex cord-stromal tumor' 'testicular sex cord-stromal neoplasm' SubClassOf 'neoplasm of testis' http://purl.obolibrary.org/obo/MONDO_0003126 breast hemangioma 'breast hemangioma' SubClassOf 'hemangioma' 'breast hemangioma' SubClassOf 'breast benign neoplasm' 'breast hemangioma' SubClassOf 'hemangioma' 'breast hemangioma' SubClassOf 'breast benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003120 mixed testicular germ cell cancer 'mixed testicular germ cell cancer' SubClassOf 'mixed germ cell tumor' 'mixed testicular germ cell cancer' SubClassOf 'malignant testicular germ cell tumor' 'mixed testicular germ cell cancer' SubClassOf 'mixed germ cell tumor' 'mixed testicular germ cell cancer' SubClassOf 'malignant testicular germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003122 striatonigral degeneration 'striatonigral degeneration' SubClassOf 'multiple system atrophy' 'striatonigral degeneration' SubClassOf 'multiple system atrophy' http://purl.obolibrary.org/obo/MONDO_0017769 acquired immunodeficiency 'acquired immunodeficiency' SubClassOf 'immune system disease' 'acquired immunodeficiency' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0017764 disorder of zinc metabolism 'disorder of zinc metabolism' SubClassOf 'disorder of mineral absorption and transport' 'disorder of zinc metabolism' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017765 disorder of magnesium transport 'disorder of magnesium transport' SubClassOf 'disorder of mineral absorption and transport' 'disorder of magnesium transport' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017766 disorder of manganese transport 'disorder of manganese transport' SubClassOf 'disorder of mineral absorption and transport' 'disorder of manganese transport' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017761 disorder of mineral absorption and transport 'disorder of mineral absorption and transport' SubClassOf 'disorder of metabolite absorption and transport' 'disorder of mineral absorption and transport' SubClassOf 'disorder of metabolite absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism 'disorder of copper metabolism' SubClassOf 'disorder of mineral absorption and transport' 'disorder of copper metabolism' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017763 disorder of iron metabolism and transport 'disorder of iron metabolism and transport' SubClassOf 'disorder of mineral absorption and transport' 'disorder of iron metabolism and transport' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0003134 proliferative glomerulonephritis 'proliferative glomerulonephritis' SubClassOf 'glomerulonephritis' 'proliferative glomerulonephritis' SubClassOf 'glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0017779 alpha-N-acetylgalactosaminidase deficiency 'alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'oligosaccharidosis' 'alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic disease' 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'partial bilateral aplasia of the mullerian ducts' 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic disease' 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'partial bilateral aplasia of the mullerian ducts' http://purl.obolibrary.org/obo/MONDO_0017773 hypoalphalipoproteinemia 'hypoalphalipoproteinemia' SubClassOf 'metabolic disease' 'hypoalphalipoproteinemia' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0017774 hypobetalipoproteinemia 'hypobetalipoproteinemia' SubClassOf 'hypolipoproteinemia' 'hypobetalipoproteinemia' SubClassOf 'hypolipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0017770 Robinow-like syndrome 'Robinow-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Robinow-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0003145 supratentorial primitive neuroectodermal tumor 'supratentorial primitive neuroectodermal tumor' SubClassOf 'supratentorial cancer' 'supratentorial primitive neuroectodermal tumor' SubClassOf 'supratentorial cancer' http://purl.obolibrary.org/obo/MONDO_0003142 intracranial primitive neuroectodermal tumor 'intracranial primitive neuroectodermal tumor' SubClassOf 'brain cancer' 'intracranial primitive neuroectodermal tumor' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' 'intracranial primitive neuroectodermal tumor' SubClassOf 'brain cancer' 'intracranial primitive neuroectodermal tumor' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003143 angiokeratoma 'angiokeratoma' SubClassOf 'skin hemangioma' 'angiokeratoma' SubClassOf 'skin hemangioma' http://purl.obolibrary.org/obo/MONDO_0017786 2q23.1 microduplication syndrome '2q23.1 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 2' '2q23.1 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0017787 erythroderma desquamativum 'erythroderma desquamativum' SubClassOf 'immune system disease' 'erythroderma desquamativum' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome 'contractures - webbed neck - micrognathia - hypoplastic nipples syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'contractures - webbed neck - micrognathia - hypoplastic nipples syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency 'developmental and speech delay due to SOX5 deficiency' SubClassOf 'syndromic disease' 'developmental and speech delay due to SOX5 deficiency' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017785 PENS syndrome 'PENS syndrome' SubClassOf 'melanocytic nevus' 'PENS syndrome' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0017780 20p13 microdeletion syndrome '20p13 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20p13 microdeletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome 20' '20p13 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20p13 microdeletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0017781 12p12.1 microdeletion syndrome '12p12.1 microdeletion syndrome' SubClassOf 'chromosome 12p deletion' '12p12.1 microdeletion syndrome' SubClassOf 'chromosome 12p deletion' http://purl.obolibrary.org/obo/MONDO_0003157 disappearing bone disease 'disappearing bone disease' SubClassOf 'syndromic disease' 'disappearing bone disease' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0003158 malignant myoepithelioma 'malignant myoepithelioma' SubClassOf 'carcinoma' 'malignant myoepithelioma' SubClassOf 'myoepithelial tumor' 'malignant myoepithelioma' SubClassOf 'carcinoma' 'malignant myoepithelioma' SubClassOf 'myoepithelial tumor' http://purl.obolibrary.org/obo/MONDO_0003159 vascular hemostatic disease 'vascular hemostatic disease' SubClassOf 'vascular disease' 'vascular hemostatic disease' SubClassOf 'hemorrhagic disease' 'vascular hemostatic disease' SubClassOf 'vascular disease' 'vascular hemostatic disease' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0003153 adult brainstem glioma 'adult brainstem glioma' SubClassOf 'Brain Stem Glioma' 'adult brainstem glioma' SubClassOf 'Brain Stem Glioma' http://purl.obolibrary.org/obo/MONDO_0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome 'marfanoid habitus-inguinal hernia-advanced bone age syndrome' SubClassOf 'developmental defect during embryogenesis' 'marfanoid habitus-inguinal hernia-advanced bone age syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0017794 Xq12-q13.3 duplication syndrome 'Xq12-q13.3 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome X' 'Xq12-q13.3 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0017795 ameloblastoma 'ameloblastoma' SubClassOf 'odontogenic neoplasm' 'ameloblastoma' SubClassOf 'odontogenic neoplasm' http://purl.obolibrary.org/obo/MONDO_0017790 gastric adenocarcinoma and proximal polyposis of the stomach 'gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'hereditary gastric cancer' 'gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'polyposis' 'gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'hereditary gastric cancer' 'gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'polyposis' http://purl.obolibrary.org/obo/MONDO_0017791 high bone mass osteogenesis imperfecta 'high bone mass osteogenesis imperfecta' SubClassOf 'osteogenesis imperfecta' 'high bone mass osteogenesis imperfecta' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0017792 7p22.1 microduplication syndrome '7p22.1 microduplication syndrome' SubClassOf 'syndromic intellectual disability' '7p22.1 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '7p22.1 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 7' '7p22.1 microduplication syndrome' SubClassOf 'syndromic intellectual disability' '7p22.1 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '7p22.1 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0003168 cerebellar pilocytic astrocytoma 'cerebellar pilocytic astrocytoma' SubClassOf 'cerebellar astrocytoma' 'cerebellar pilocytic astrocytoma' SubClassOf 'pilocytic astrocytoma' 'cerebellar pilocytic astrocytoma' SubClassOf 'benign neoplasm of cerebellum' 'cerebellar pilocytic astrocytoma' SubClassOf 'cerebellar astrocytoma' 'cerebellar pilocytic astrocytoma' SubClassOf 'pilocytic astrocytoma' 'cerebellar pilocytic astrocytoma' SubClassOf 'benign neoplasm of cerebellum' http://purl.obolibrary.org/obo/MONDO_0003169 diencephalic astrocytomas 'diencephalic astrocytomas' SubClassOf 'brain astrocytoma' 'diencephalic astrocytomas' SubClassOf 'diencephalic cancer' 'diencephalic astrocytomas' SubClassOf 'brain glioma' 'diencephalic astrocytomas' SubClassOf 'brain astrocytoma' 'diencephalic astrocytomas' SubClassOf 'diencephalic cancer' 'diencephalic astrocytomas' SubClassOf 'brain glioma' http://purl.obolibrary.org/obo/MONDO_0003165 cerebellar astrocytoma 'cerebellar astrocytoma' SubClassOf 'cerebellar neoplasm' 'cerebellar astrocytoma' SubClassOf 'brain astrocytoma' 'cerebellar astrocytoma' SubClassOf 'cerebellar neoplasm' 'cerebellar astrocytoma' SubClassOf 'brain astrocytoma' http://purl.obolibrary.org/obo/MONDO_0003175 salivary gland adenoid cystic carcinoma 'salivary gland adenoid cystic carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'salivary gland adenoid cystic carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0003177 prostate adenoid cystic carcinoma 'prostate adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'prostate adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0003171 pineal gland astrocytoma 'pineal gland astrocytoma' SubClassOf 'pineal gland cancer' 'pineal gland astrocytoma' SubClassOf 'pineal gland cancer' http://purl.obolibrary.org/obo/MONDO_0003173 brain stem astrocytic neoplasm 'brain stem astrocytic neoplasm' SubClassOf 'Brain Stem Glioma' 'brain stem astrocytic neoplasm' SubClassOf 'brain astrocytoma' 'brain stem astrocytic neoplasm' SubClassOf 'Brain Stem Glioma' 'brain stem astrocytic neoplasm' SubClassOf 'brain astrocytoma' http://purl.obolibrary.org/obo/MONDO_0003180 cutaneous adenocystic carcinoma 'cutaneous adenocystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'cutaneous adenocystic carcinoma' SubClassOf 'sweat gland carcinoma' 'cutaneous adenocystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'cutaneous adenocystic carcinoma' SubClassOf 'sweat gland carcinoma' http://purl.obolibrary.org/obo/MONDO_0003189 middle ear adenocarcinoma 'middle ear adenocarcinoma' SubClassOf 'middle ear carcinoma' 'middle ear adenocarcinoma' SubClassOf 'adenocarcinoma' 'middle ear adenocarcinoma' SubClassOf 'middle ear carcinoma' 'middle ear adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003186 esophageal adenoid cystic carcinoma 'esophageal adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'esophageal adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0003187 Bartholin gland adenoid cystic carcinoma 'Bartholin gland adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'Bartholin gland adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0003181 lung adenoid cystic carcinoma 'lung adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'lung adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0003190 middle ear carcinoma 'middle ear carcinoma' SubClassOf 'head and neck carcinoma' 'middle ear carcinoma' SubClassOf 'middle ear cancer' 'middle ear carcinoma' SubClassOf 'head and neck carcinoma' 'middle ear carcinoma' SubClassOf 'middle ear cancer' http://purl.obolibrary.org/obo/MONDO_0003196 appendix carcinoma 'appendix carcinoma' SubClassOf 'appendix cancer' 'appendix carcinoma' SubClassOf 'appendix cancer' http://purl.obolibrary.org/obo/MONDO_0003197 granular cell carcinoma 'granular cell carcinoma' SubClassOf 'adenocarcinoma' 'granular cell carcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003199 anal carcinoma 'anal carcinoma' SubClassOf 'anus cancer' 'anal carcinoma' SubClassOf 'anus cancer' http://purl.obolibrary.org/obo/MONDO_0003193 bile duct adenocarcinoma 'bile duct adenocarcinoma' SubClassOf 'bile duct carcinoma' 'bile duct adenocarcinoma' SubClassOf 'adenocarcinoma' 'bile duct adenocarcinoma' SubClassOf 'bile duct carcinoma' 'bile duct adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003194 hemangioma of lung 'hemangioma of lung' SubClassOf 'lung benign neoplasm' 'hemangioma of lung' SubClassOf 'hemangioma' 'hemangioma of lung' SubClassOf 'lung benign neoplasm' 'hemangioma of lung' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0003195 peritoneal serous adenocarcinoma 'peritoneal serous adenocarcinoma' SubClassOf 'peritoneal carcinoma' 'peritoneal serous adenocarcinoma' SubClassOf 'peritoneal carcinoma' http://www.ebi.ac.uk/efo/EFO_0004210 gallstones 'gallstones' SubClassOf 'gallbladder disease' 'gallstones' SubClassOf 'gallbladder disease' http://www.ebi.ac.uk/efo/EFO_0004211 Hypertriglyceridemia 'Hypertriglyceridemia' SubClassOf 'metabolic disease' 'Hypertriglyceridemia' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0004214 Abdominal Aortic Aneurysm 'Abdominal Aortic Aneurysm' SubClassOf 'aortic aneurysm' 'Abdominal Aortic Aneurysm' SubClassOf 'aortic aneurysm' http://www.ebi.ac.uk/efo/EFO_0004212 Keloid 'Keloid' SubClassOf 'reactive cutaneous fibrous lesion' 'Keloid' SubClassOf 'reactive cutaneous fibrous lesion' http://www.ebi.ac.uk/efo/EFO_0004213 otosclerosis 'otosclerosis' SubClassOf 'inner ear disease' 'otosclerosis' SubClassOf 'inner ear disease' http://www.ebi.ac.uk/efo/EFO_0004216 conduct disorder 'conduct disorder' SubClassOf 'specific developmental disorder' 'conduct disorder' SubClassOf 'specific developmental disorder' http://www.ebi.ac.uk/efo/EFO_0004208 Vitiligo 'Vitiligo' SubClassOf 'dermatitis' 'Vitiligo' SubClassOf 'type II hypersensitivity reaction disease' 'Vitiligo' SubClassOf 'dermatitis' 'Vitiligo' SubClassOf 'type II hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_0004209 hypospadias 'hypospadias' SubClassOf 'disorder of development or morphogenesis' 'hypospadias' SubClassOf 'reproductive system disease' 'hypospadias' SubClassOf 'disorder of development or morphogenesis' 'hypospadias' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0004232 eosinophilic esophagitis 'eosinophilic esophagitis' SubClassOf 'eosinophilic gastrointestinal disease' 'eosinophilic esophagitis' SubClassOf 'esophagitis' 'eosinophilic esophagitis' SubClassOf 'eosinophilic gastrointestinal disease' 'eosinophilic esophagitis' SubClassOf 'esophagitis' http://www.ebi.ac.uk/efo/EFO_0004236 focal segmental glomerulosclerosis 'focal segmental glomerulosclerosis' SubClassOf 'glomerulosclerosis' 'focal segmental glomerulosclerosis' SubClassOf 'glomerulosclerosis' http://www.ebi.ac.uk/efo/EFO_0004237 Graves disease 'Graves disease' SubClassOf 'autoimmune thyroid disease' 'Graves disease' SubClassOf 'goiter' 'Graves disease' SubClassOf 'toxic diffuse goiter' 'Graves disease' SubClassOf 'autoimmune thyroid disease' 'Graves disease' SubClassOf 'goiter' 'Graves disease' SubClassOf 'toxic diffuse goiter' http://www.ebi.ac.uk/efo/EFO_0004234 erectile dysfunction 'erectile dysfunction' SubClassOf 'physiological sexual disorder' 'erectile dysfunction' SubClassOf 'physiological sexual disorder' http://www.ebi.ac.uk/efo/EFO_0004235 exfoliation syndrome 'exfoliation syndrome' SubClassOf 'iris disorder' 'exfoliation syndrome' SubClassOf 'syndromic disease' 'exfoliation syndrome' SubClassOf 'phacogenic glaucoma' 'exfoliation syndrome' SubClassOf 'iris disorder' 'exfoliation syndrome' SubClassOf 'syndromic disease' 'exfoliation syndrome' SubClassOf 'phacogenic glaucoma' http://www.ebi.ac.uk/efo/EFO_0004238 hearing loss 'hearing loss' SubClassOf 'hearing disorder' 'hearing loss' SubClassOf 'hearing disorder' http://www.ebi.ac.uk/efo/EFO_0004239 chronic hepatitis B virus infection 'chronic hepatitis B virus infection' SubClassOf 'hepatitis B virus infection' 'chronic hepatitis B virus infection' SubClassOf 'hepatitis B virus infection' http://www.ebi.ac.uk/efo/EFO_0004220 chronic hepatitis C virus infection 'chronic hepatitis C virus infection' SubClassOf 'hepatitis C virus infection' 'chronic hepatitis C virus infection' SubClassOf 'hepatitis C virus infection' http://www.ebi.ac.uk/efo/EFO_0004225 Coronary Vasospasm 'Coronary Vasospasm' SubClassOf 'coronary artery disease' 'Coronary Vasospasm' SubClassOf 'coronary artery disease' http://www.ebi.ac.uk/efo/EFO_0004226 Creutzfeldt Jacob Disease 'Creutzfeldt Jacob Disease' SubClassOf 'prion disease' 'Creutzfeldt Jacob Disease' SubClassOf 'prion disease' http://www.ebi.ac.uk/efo/EFO_0004224 Coronary Restenosis 'Coronary Restenosis' SubClassOf 'coronary stenosis' 'Coronary Restenosis' SubClassOf 'coronary stenosis' http://www.ebi.ac.uk/efo/EFO_0004227 Dengue Hemorrhagic Fever 'Dengue Hemorrhagic Fever' SubClassOf 'dengue disease' 'Dengue Hemorrhagic Fever' SubClassOf 'viral hemorrhagic fever' 'Dengue Hemorrhagic Fever' SubClassOf 'dengue disease' 'Dengue Hemorrhagic Fever' SubClassOf 'viral hemorrhagic fever' http://www.ebi.ac.uk/efo/EFO_0004228 drug-induced liver injury 'drug-induced liver injury' SubClassOf 'liver disease' 'drug-induced liver injury' SubClassOf 'liver disease' http://www.ebi.ac.uk/efo/EFO_0004254 membranous glomerulonephritis 'membranous glomerulonephritis' SubClassOf 'glomerulonephritis' 'membranous glomerulonephritis' SubClassOf 'glomerulonephritis' http://www.ebi.ac.uk/efo/EFO_0004255 nephrotic syndrome 'nephrotic syndrome' SubClassOf 'syndromic disease' 'nephrotic syndrome' SubClassOf 'nephrosis' 'nephrotic syndrome' SubClassOf 'syndromic disease' 'nephrotic syndrome' SubClassOf 'nephrosis' http://www.ebi.ac.uk/efo/EFO_0004252 nasopharyngeal neoplasm 'nasopharyngeal neoplasm' SubClassOf 'pharynx neoplasm' 'nasopharyngeal neoplasm' SubClassOf 'nasopharyngeal disorder' 'nasopharyngeal neoplasm' SubClassOf 'pharynx neoplasm' 'nasopharyngeal neoplasm' SubClassOf 'nasopharyngeal disorder' http://www.ebi.ac.uk/efo/EFO_0004253 nephrolithiasis 'nephrolithiasis' SubClassOf 'urolithiasis' 'nephrolithiasis' SubClassOf 'kidney disease' 'nephrolithiasis' SubClassOf 'urolithiasis' 'nephrolithiasis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0004259 osteonecrosis 'osteonecrosis' SubClassOf 'bone disease' 'osteonecrosis' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0004256 neuromyelitis optica 'neuromyelitis optica' SubClassOf 'autoimmune/inflammatory optic neuropathy' 'neuromyelitis optica' SubClassOf 'nervous system disease' 'neuromyelitis optica' SubClassOf 'autoimmune/inflammatory optic neuropathy' 'neuromyelitis optica' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0004257 neurotic disorder 'neurotic disorder' SubClassOf 'anxiety disorder' 'neurotic disorder' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_0004240 heroin dependence 'heroin dependence' SubClassOf 'opioid dependence' 'heroin dependence' SubClassOf 'opioid dependence' http://www.ebi.ac.uk/efo/EFO_0004243 carcinoid tumor 'carcinoid tumor' SubClassOf 'neuroendocrine neoplasm' 'carcinoid tumor' SubClassOf 'neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease 'interstitial lung disease' SubClassOf 'disease has location' some 'lung parenchyma' 'interstitial lung disease' SubClassOf 'lung disease' 'interstitial lung disease' SubClassOf 'disease has location' some 'lung parenchyma' 'interstitial lung disease' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0004242 obsessive-compulsive disorder 'obsessive-compulsive disorder' SubClassOf 'anxiety disorder' 'obsessive-compulsive disorder' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_0004247 mood disorder 'mood disorder' SubClassOf 'mental or behavioural disorder' 'mood disorder' SubClassOf 'mental or behavioural disorder' http://www.ebi.ac.uk/efo/EFO_0004248 male infertility 'male infertility' SubClassOf 'infertility' 'male infertility' SubClassOf 'male reproductive system disease' 'male infertility' SubClassOf 'infertility' 'male infertility' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0004246 mucocutaneous lymph node syndrome 'mucocutaneous lymph node syndrome' SubClassOf 'lymphadenitis' 'mucocutaneous lymph node syndrome' SubClassOf 'vasculitis' 'mucocutaneous lymph node syndrome' SubClassOf 'lymphadenitis' 'mucocutaneous lymph node syndrome' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'inherited hypertrophic pyloric stenosis' 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'inherited hypertrophic pyloric stenosis' 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017806 15q overgrowth syndrome '15q overgrowth syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q overgrowth syndrome' SubClassOf 'partial duplication of the long arm of chromosome 15' '15q overgrowth syndrome' SubClassOf 'overgrowth syndrome' '15q overgrowth syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '15q overgrowth syndrome' SubClassOf 'partial duplication of the long arm of chromosome 15' '15q overgrowth syndrome' SubClassOf 'overgrowth syndrome' http://www.ebi.ac.uk/efo/EFO_0004249 meningococcal infection 'meningococcal infection' SubClassOf 'bacterial disease' 'meningococcal infection' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0017808 duplication of the pituitary gland 'duplication of the pituitary gland' SubClassOf 'disorder of development or morphogenesis' 'duplication of the pituitary gland' SubClassOf 'endocrine system disease' 'duplication of the pituitary gland' SubClassOf 'nervous system disease' 'duplication of the pituitary gland' SubClassOf 'disorder of development or morphogenesis' 'duplication of the pituitary gland' SubClassOf 'endocrine system disease' 'duplication of the pituitary gland' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 'autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'genetic disorder' 'autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' 'autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'genetic disorder' 'autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0004273 scoliosis 'scoliosis' SubClassOf 'disease of bone structure' 'scoliosis' SubClassOf 'disease of bone structure' http://www.ebi.ac.uk/efo/EFO_0004270 restless legs syndrome 'restless legs syndrome' SubClassOf 'nervous system disease' 'restless legs syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0004276 Stevens-Johnson syndrome 'Stevens-Johnson syndrome' SubClassOf 'toxic epidermal necrolysis' 'Stevens-Johnson syndrome' SubClassOf 'syndromic disease' 'Stevens-Johnson syndrome' SubClassOf 'toxic epidermal necrolysis' 'Stevens-Johnson syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0004277 brain infarction 'brain infarction' SubClassOf 'cerebrovascular disorder' 'brain infarction' SubClassOf 'disease has location' some 'brain blood vessel' 'brain infarction' SubClassOf 'cerebrovascular disorder' 'brain infarction' SubClassOf 'disease has location' some 'brain blood vessel' http://www.ebi.ac.uk/efo/EFO_0004274 gout 'gout' SubClassOf 'metabolic disease' 'gout' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0017816 primary systemic amyloidosis 'primary systemic amyloidosis' SubClassOf 'AL amyloidosis' 'primary systemic amyloidosis' SubClassOf 'AL amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017817 primary localized amyloidosis 'primary localized amyloidosis' SubClassOf 'AL amyloidosis' 'primary localized amyloidosis' SubClassOf 'AL amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency 'lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'vascular disease' 'lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'overgrowth syndrome' 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0017813 van Maldergem syndrome 'van Maldergem syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'van Maldergem syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017814 primary bone lymphoma 'primary bone lymphoma' SubClassOf 'Malignant Bone Neoplasm' 'primary bone lymphoma' SubClassOf 'primary organ-specific lymphoma' 'primary bone lymphoma' SubClassOf 'Malignant Bone Neoplasm' 'primary bone lymphoma' SubClassOf 'primary organ-specific lymphoma' http://purl.obolibrary.org/obo/MONDO_0017815 acquired porencephaly 'acquired porencephaly' SubClassOf 'porencephaly' 'acquired porencephaly' SubClassOf 'porencephaly' http://purl.obolibrary.org/obo/MONDO_0017810 variant ABeta2M amyloidosis 'variant ABeta2M amyloidosis' SubClassOf 'hereditary amyloidosis' 'variant ABeta2M amyloidosis' SubClassOf 'ABeta2M amyloidosis' 'variant ABeta2M amyloidosis' SubClassOf 'hereditary amyloidosis' 'variant ABeta2M amyloidosis' SubClassOf 'ABeta2M amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 5' 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'syndromic disease' 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'partial deletion of the long arm of chromosome 5' 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0004280 movement disorder 'movement disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormality of movement') 'movement disorder' SubClassOf 'nervous system disease' 'movement disorder' SubClassOf 'disease has major feature' some 'Abnormality of movement' 'movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormality of movement' 'movement disorder' SubClassOf 'nervous system disease' 'movement disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormality of movement') http://www.ebi.ac.uk/efo/EFO_0004261 osteitis deformans 'osteitis deformans' SubClassOf 'hyperostosis' 'osteitis deformans' SubClassOf 'metabolic bone disorder' 'osteitis deformans' SubClassOf 'hyperostosis' 'osteitis deformans' SubClassOf 'metabolic bone disorder' http://www.ebi.ac.uk/efo/EFO_0004262 panic disorder 'panic disorder' SubClassOf 'anxiety disorder' 'panic disorder' SubClassOf 'anxiety disorder' http://www.ebi.ac.uk/efo/EFO_0004260 bone disease 'bone disease' SubClassOf 'skeletal system disease' 'bone disease' SubClassOf 'skeletal system disease' http://www.ebi.ac.uk/efo/EFO_0004265 peripheral arterial disease 'peripheral arterial disease' SubClassOf 'peripheral vascular disease' 'peripheral arterial disease' SubClassOf 'arterial disorder' 'peripheral arterial disease' SubClassOf 'peripheral vascular disease' 'peripheral arterial disease' SubClassOf 'arterial disorder' http://www.ebi.ac.uk/efo/EFO_0004266 primary ovarian insufficiency 'primary ovarian insufficiency' SubClassOf 'ovarian dysfunction' 'primary ovarian insufficiency' SubClassOf 'ovarian dysfunction' http://www.ebi.ac.uk/efo/EFO_0004263 partial epilepsy 'partial epilepsy' SubClassOf 'epilepsy' 'partial epilepsy' SubClassOf 'epilepsy' http://www.ebi.ac.uk/efo/EFO_0004264 vascular disease 'vascular disease' SubClassOf 'cardiovascular disease' 'vascular disease' SubClassOf 'disease has location' some 'vascular system' 'vascular disease' SubClassOf 'cardiovascular disease' 'vascular disease' SubClassOf 'disease has location' some 'vascular system' http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis 'sclerosing cholangitis' SubClassOf 'disease has location' some 'biliary system' 'sclerosing cholangitis' SubClassOf 'cholangitis' 'sclerosing cholangitis' SubClassOf 'disease has location' some 'biliary system' 'sclerosing cholangitis' SubClassOf 'cholangitis' http://purl.obolibrary.org/obo/MONDO_0017829 autosomal dominant proximal renal tubular acidosis 'autosomal dominant proximal renal tubular acidosis' SubClassOf 'proximal renal tubular acidosis' 'autosomal dominant proximal renal tubular acidosis' SubClassOf 'proximal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0017607 caudal regression sequence 'caudal regression sequence' SubClassOf 'neural tube defect' 'caudal regression sequence' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0017609 renal tubular dysgenesis 'renal tubular dysgenesis' SubClassOf 'kidney disease' 'renal tubular dysgenesis' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0017618 congenital sucrase-isomaltase deficiency with starch intolerance 'congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' 'congenital sucrase-isomaltase deficiency with starch intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' http://purl.obolibrary.org/obo/MONDO_0017619 congenital sucrase-isomaltase deficiency with minimal starch tolerance 'congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' 'congenital sucrase-isomaltase deficiency with minimal starch tolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' http://purl.obolibrary.org/obo/MONDO_0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017615 benign familial infantile epilepsy 'benign familial infantile epilepsy' SubClassOf 'benign partial infantile seizures' 'benign familial infantile epilepsy' SubClassOf 'infancy electroclinical syndrome' 'benign familial infantile epilepsy' SubClassOf 'benign partial infantile seizures' 'benign familial infantile epilepsy' SubClassOf 'infancy electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0017616 X-linked intellectual disability, Schutz type 'X-linked intellectual disability, Schutz type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Schutz type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017617 acquired adult-onset immunodeficiency 'acquired adult-onset immunodeficiency' SubClassOf 'acquired immunodeficiency' 'acquired adult-onset immunodeficiency' SubClassOf 'acquired immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0017610 epidermolysis bullosa simplex 'epidermolysis bullosa simplex' SubClassOf 'inherited epidermolysis bullosa' 'epidermolysis bullosa simplex' SubClassOf 'inherited epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0017611 pituitary tumor 'pituitary tumor' SubClassOf 'sella turcica neoplasm' 'pituitary tumor' SubClassOf 'endocrine neoplasm' 'pituitary tumor' SubClassOf 'pituitary gland disease' 'pituitary tumor' SubClassOf 'sella turcica neoplasm' 'pituitary tumor' SubClassOf 'endocrine neoplasm' 'pituitary tumor' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0017612 junctional epidermolysis bullosa 'junctional epidermolysis bullosa' SubClassOf 'inherited epidermolysis bullosa' 'junctional epidermolysis bullosa' SubClassOf 'inherited epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0017613 intellectual disability-hypotonia-skin hyperpigmentation syndrome 'intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf 'syndromic disease' 'intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017625 familial primary hypomagnesemia with hypocalcuria 'familial primary hypomagnesemia with hypocalcuria' SubClassOf 'familial primary hypomagnesemia' 'familial primary hypomagnesemia with hypocalcuria' SubClassOf 'familial primary hypomagnesemia' http://purl.obolibrary.org/obo/MONDO_0017626 familial primary hypomagnesemia with normocalcuria 'familial primary hypomagnesemia with normocalcuria' SubClassOf 'familial primary hypomagnesemia' 'familial primary hypomagnesemia with normocalcuria' SubClassOf 'familial primary hypomagnesemia' http://purl.obolibrary.org/obo/MONDO_0017627 congenital hereditary facial paralysis-variable hearing loss syndrome 'congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf 'syndromic disease' 'congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf 'disorder of facial skeleton' 'congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf 'syndromic disease' 'congenital hereditary facial paralysis-variable hearing loss syndrome' SubClassOf 'disorder of facial skeleton' http://purl.obolibrary.org/obo/MONDO_0017621 congenital sucrase-isomaltase deficiency with starch and lactose intolerance 'congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' 'congenital sucrase-isomaltase deficiency with starch and lactose intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' http://purl.obolibrary.org/obo/MONDO_0017622 congenital sucrase-isomaltase deficiency without sucrose intolerance 'congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' 'congenital sucrase-isomaltase deficiency without sucrose intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' http://purl.obolibrary.org/obo/MONDO_0017624 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 'familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'familial primary hypomagnesemia' 'familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' SubClassOf 'familial primary hypomagnesemia' http://purl.obolibrary.org/obo/MONDO_0017620 congenital sucrase-isomaltase deficiency without starch intolerance 'congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' 'congenital sucrase-isomaltase deficiency without starch intolerance' SubClassOf 'congenital sucrase-isomaltase deficiency' http://purl.obolibrary.org/obo/MONDO_0017636 hemiparkinsonism-hemiatrophy syndrome 'hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'parkinsonian disorder' 'hemiparkinsonism-hemiatrophy syndrome' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0017639 carbon monoxide-induced parkinsonism 'carbon monoxide-induced parkinsonism' SubClassOf 'parkinsonian disorder' 'carbon monoxide-induced parkinsonism' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0017634 non-infectious anterior uveitis 'non-infectious anterior uveitis' SubClassOf 'anterior uveitis' 'non-infectious anterior uveitis' SubClassOf 'anterior uveitis' http://purl.obolibrary.org/obo/MONDO_0017630 X-linked complicated spastic paraplegia type 1 'X-linked complicated spastic paraplegia type 1' SubClassOf 'L1 syndrome' 'X-linked complicated spastic paraplegia type 1' SubClassOf 'L1 syndrome' http://purl.obolibrary.org/obo/MONDO_0003007 childhood kidney cell carcinoma 'childhood kidney cell carcinoma' SubClassOf 'renal cell adenocarcinoma' 'childhood kidney cell carcinoma' SubClassOf 'renal cell adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003008 hereditary renal cell carcinoma 'hereditary renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' 'hereditary renal cell carcinoma' SubClassOf 'renal cell adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003002 dysgerminoma 'dysgerminoma' SubClassOf 'Malignant Germ Cell Tumor' 'dysgerminoma' SubClassOf 'Malignant Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0003003 cervical alveolar soft part sarcoma 'cervical alveolar soft part sarcoma' SubClassOf 'alveolar soft part sarcoma' 'cervical alveolar soft part sarcoma' SubClassOf 'alveolar soft part sarcoma' http://purl.obolibrary.org/obo/MONDO_0003000 central nervous system germ cell tumor 'central nervous system germ cell tumor' SubClassOf 'Central Nervous System Neoplasm' 'central nervous system germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'central nervous system germ cell tumor' SubClassOf 'Central Nervous System Neoplasm' 'central nervous system germ cell tumor' SubClassOf 'extragonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003001 seminoma 'seminoma' SubClassOf 'Malignant Germ Cell Tumor' 'seminoma' SubClassOf 'Malignant Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0017642 intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 'intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'syndromic disease' 'intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0003019 potassium deficiency disease 'potassium deficiency disease' SubClassOf 'mineral metabolism disease' 'potassium deficiency disease' SubClassOf 'nutritional disorder' 'potassium deficiency disease' SubClassOf 'mineral metabolism disease' 'potassium deficiency disease' SubClassOf 'nutritional disorder' http://purl.obolibrary.org/obo/MONDO_0017658 hyperekplexia 'hyperekplexia' SubClassOf 'movement disorder' 'hyperekplexia' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0003028 thyroid sarcoma 'thyroid sarcoma' SubClassOf 'thyroid cancer' 'thyroid sarcoma' SubClassOf 'soft tissue sarcoma' 'thyroid sarcoma' SubClassOf 'thyroid cancer' 'thyroid sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0003029 skin angiosarcoma 'skin angiosarcoma' SubClassOf 'Skin Sarcoma' 'skin angiosarcoma' SubClassOf 'angiosarcoma' 'skin angiosarcoma' SubClassOf 'Skin Sarcoma' 'skin angiosarcoma' SubClassOf 'angiosarcoma' http://purl.obolibrary.org/obo/MONDO_0003024 breast angiosarcoma 'breast angiosarcoma' SubClassOf 'angiosarcoma' 'breast angiosarcoma' SubClassOf 'breast sarcoma' 'breast angiosarcoma' SubClassOf 'angiosarcoma' 'breast angiosarcoma' SubClassOf 'breast sarcoma' http://purl.obolibrary.org/obo/MONDO_0003026 gallbladder angiosarcoma 'gallbladder angiosarcoma' SubClassOf 'gallbladder sarcoma' 'gallbladder angiosarcoma' SubClassOf 'gallbladder sarcoma' http://purl.obolibrary.org/obo/MONDO_0003027 thyroid gland angiosarcoma 'thyroid gland angiosarcoma' SubClassOf 'thyroid sarcoma' 'thyroid gland angiosarcoma' SubClassOf 'angiosarcoma' 'thyroid gland angiosarcoma' SubClassOf 'thyroid sarcoma' 'thyroid gland angiosarcoma' SubClassOf 'angiosarcoma' http://purl.obolibrary.org/obo/MONDO_0003021 central nervous system angiosarcoma 'central nervous system angiosarcoma' SubClassOf 'angiosarcoma' 'central nervous system angiosarcoma' SubClassOf 'central nervous system sarcoma' 'central nervous system angiosarcoma' SubClassOf 'angiosarcoma' 'central nervous system angiosarcoma' SubClassOf 'central nervous system sarcoma' http://purl.obolibrary.org/obo/MONDO_0003022 pediatric angiosarcoma 'pediatric angiosarcoma' SubClassOf 'angiosarcoma' 'pediatric angiosarcoma' SubClassOf 'angiosarcoma' http://purl.obolibrary.org/obo/MONDO_0003023 aorta angiosarcoma 'aorta angiosarcoma' SubClassOf 'angiosarcoma' 'aorta angiosarcoma' SubClassOf 'angiosarcoma' http://purl.obolibrary.org/obo/MONDO_0017666 diffuse palmoplantar keratoderma 'diffuse palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' 'diffuse palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017668 intellectual disability-short stature-hypertelorism syndrome 'intellectual disability-short stature-hypertelorism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-short stature-hypertelorism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0003035 ovarian angiosarcoma 'ovarian angiosarcoma' SubClassOf 'angiosarcoma' 'ovarian angiosarcoma' SubClassOf 'ovarian sarcoma' 'ovarian angiosarcoma' SubClassOf 'angiosarcoma' 'ovarian angiosarcoma' SubClassOf 'ovarian sarcoma' http://purl.obolibrary.org/obo/MONDO_0003036 mucoepidermoid carcinoma 'mucoepidermoid carcinoma' SubClassOf 'cystic, mucinous, and serous neoplasm' 'mucoepidermoid carcinoma' SubClassOf 'cystic, mucinous, and serous neoplasm' http://purl.obolibrary.org/obo/MONDO_0003037 hypotrichosis 'hypotrichosis' SubClassOf 'disorder of pilosebaceous unit' 'hypotrichosis' SubClassOf 'disorder of pilosebaceous unit' http://purl.obolibrary.org/obo/MONDO_0003031 endometrioid stromal and related neoplasms of the cervix 'endometrioid stromal and related neoplasms of the cervix' SubClassOf 'female reproductive system neoplasm' 'endometrioid stromal and related neoplasms of the cervix' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0003033 prostate angiosarcoma 'prostate angiosarcoma' SubClassOf 'angiosarcoma' 'prostate angiosarcoma' SubClassOf 'prostate sarcoma' 'prostate angiosarcoma' SubClassOf 'angiosarcoma' 'prostate angiosarcoma' SubClassOf 'prostate sarcoma' http://purl.obolibrary.org/obo/MONDO_0003034 mediastinum angiosarcoma 'mediastinum angiosarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinum angiosarcoma' SubClassOf 'angiosarcoma' 'mediastinum angiosarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinum angiosarcoma' SubClassOf 'angiosarcoma' http://purl.obolibrary.org/obo/MONDO_0003030 endometrioid stromal sarcoma of the cervix 'endometrioid stromal sarcoma of the cervix' SubClassOf 'endometrioid stromal and related neoplasms of the cervix' 'endometrioid stromal sarcoma of the cervix' SubClassOf 'endometrioid stromal and related neoplasms of the cervix' http://purl.obolibrary.org/obo/MONDO_0017677 focal acral hyperkeratosis 'focal acral hyperkeratosis' SubClassOf 'punctate palmoplantar keratoderma' 'focal acral hyperkeratosis' SubClassOf 'punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017672 focal palmoplantar keratoderma 'focal palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' 'focal palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017675 punctate palmoplantar keratoderma 'punctate palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' 'punctate palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0003047 thymic large cell neuroendocrine carcinoma 'thymic large cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'thymic large cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0003049 ovarian large-cell neuroendocrine carcinoma 'ovarian large-cell neuroendocrine carcinoma' SubClassOf 'ovarian carcinoma' 'ovarian large-cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'ovarian large-cell neuroendocrine carcinoma' SubClassOf 'ovarian carcinoma' 'ovarian large-cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0003042 adult mesenchymal chondrosarcoma 'adult mesenchymal chondrosarcoma' SubClassOf 'mesenchymal chondrosarcoma' 'adult mesenchymal chondrosarcoma' SubClassOf 'mesenchymal chondrosarcoma' http://purl.obolibrary.org/obo/MONDO_0003041 pediatric mesenchymal chondrosarcoma 'pediatric mesenchymal chondrosarcoma' SubClassOf 'mesenchymal chondrosarcoma' 'pediatric mesenchymal chondrosarcoma' SubClassOf 'mesenchymal chondrosarcoma' http://purl.obolibrary.org/obo/MONDO_0017687 disorder of neutral amino acid transport 'disorder of neutral amino acid transport' SubClassOf 'inborn disorder of amino acid transport' 'disorder of neutral amino acid transport' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0017688 disorder of glycolysis 'disorder of glycolysis' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorder of glycolysis' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017689 disorder of fructose metabolism 'disorder of fructose metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorder of fructose metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017683 methylcobalamin deficiency type cblDv1 'methylcobalamin deficiency type cblDv1' SubClassOf 'homocystinuria without methylmalonic aciduria' 'methylcobalamin deficiency type cblDv1' SubClassOf 'methylmalonic aciduria and/or homocystinuria, cblD type' 'methylcobalamin deficiency type cblDv1' SubClassOf 'homocystinuria without methylmalonic aciduria' 'methylcobalamin deficiency type cblDv1' SubClassOf 'methylmalonic aciduria and/or homocystinuria, cblD type' http://purl.obolibrary.org/obo/MONDO_0017684 disorder of beta and omega amino acid metabolism 'disorder of beta and omega amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'disorder of beta and omega amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017685 vitamin B12-responsive methylmalonic acidemia, type cblDv2 'vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'methylmalonic aciduria and/or homocystinuria, cblD type' 'vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' 'vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'methylmalonic aciduria and/or homocystinuria, cblD type' 'vitamin B12-responsive methylmalonic acidemia, type cblDv2' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0017682 intellectual disability-polydactyly-uncombable hair syndrome 'intellectual disability-polydactyly-uncombable hair syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-polydactyly-uncombable hair syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0027026 Buschke Lowenstein tumor 'Buschke Lowenstein tumor' SubClassOf 'anogenital venereal wart' 'Buschke Lowenstein tumor' SubClassOf 'verrucous carcinoma' 'Buschke Lowenstein tumor' SubClassOf 'anogenital venereal wart' 'Buschke Lowenstein tumor' SubClassOf 'verrucous carcinoma' http://purl.obolibrary.org/obo/MONDO_0003057 pediatric meningioma 'pediatric meningioma' SubClassOf 'meningioma' 'pediatric meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0003059 bile duct cancer 'bile duct cancer' SubClassOf 'biliary tract cancer' 'bile duct cancer' SubClassOf 'biliary tract cancer' http://purl.obolibrary.org/obo/MONDO_0003054 benign meningioma 'benign meningioma' SubClassOf 'meningioma' 'benign meningioma' SubClassOf 'benign neoplasm of meninges' 'benign meningioma' SubClassOf 'meningioma' 'benign meningioma' SubClassOf 'benign neoplasm of meninges' http://purl.obolibrary.org/obo/MONDO_0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 'glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017699 glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 'glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017694 glycogen storage disease due to acid maltase deficiency, infantile onset 'glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'glycogen storage disease II' 'glycogen storage disease due to acid maltase deficiency, infantile onset' SubClassOf 'glycogen storage disease II' http://purl.obolibrary.org/obo/MONDO_0017695 glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 'glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017696 glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 'glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017697 glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 'glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017690 disorder of galactose metabolism 'disorder of galactose metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorder of galactose metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte galactose epimerase deficiency 'erythrocyte galactose epimerase deficiency' SubClassOf 'disorder of galactose and fructose metabolism' 'erythrocyte galactose epimerase deficiency' SubClassOf 'galactose epimerase deficiency' 'erythrocyte galactose epimerase deficiency' SubClassOf 'galactose epimerase deficiency' 'erythrocyte galactose epimerase deficiency' SubClassOf 'disorder of galactose and fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0017692 generalized galactose epimerase deficiency 'generalized galactose epimerase deficiency' SubClassOf 'galactose epimerase deficiency' 'generalized galactose epimerase deficiency' SubClassOf 'disorder of galactose and fructose metabolism' 'generalized galactose epimerase deficiency' SubClassOf 'galactose epimerase deficiency' 'generalized galactose epimerase deficiency' SubClassOf 'disorder of galactose and fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0003064 inverted transitional cell papilloma 'inverted transitional cell papilloma' SubClassOf 'inverted papilloma' 'inverted transitional cell papilloma' EquivalentTo 'inverted papilloma' and 'transitional cell papilloma' 'inverted transitional cell papilloma' SubClassOf 'transitional cell papilloma' 'inverted transitional cell papilloma' SubClassOf 'inverted papilloma' 'inverted transitional cell papilloma' EquivalentTo 'inverted papilloma' and 'transitional cell papilloma' 'inverted transitional cell papilloma' SubClassOf 'transitional cell papilloma' http://purl.obolibrary.org/obo/MONDO_0003066 submandibular adenitis 'submandibular adenitis' SubClassOf 'cervical lymphadenitis' 'submandibular adenitis' SubClassOf 'cervical lymphadenitis' http://purl.obolibrary.org/obo/MONDO_0003067 cervical lymphadenitis 'cervical lymphadenitis' SubClassOf 'lymphadenitis' 'cervical lymphadenitis' SubClassOf 'lymphadenitis' http://purl.obolibrary.org/obo/MONDO_0003061 benign muscle neoplasm 'benign muscle neoplasm' SubClassOf 'musculoskeletal system benign neoplasm' 'benign muscle neoplasm' SubClassOf 'myomatous neoplasm' 'benign muscle neoplasm' SubClassOf 'musculoskeletal system benign neoplasm' 'benign muscle neoplasm' SubClassOf 'myomatous neoplasm' http://purl.obolibrary.org/obo/MONDO_0003062 intestinal benign neoplasm 'intestinal benign neoplasm' SubClassOf 'benign digestive system neoplasm' 'intestinal benign neoplasm' SubClassOf 'intestinal neoplasm' 'intestinal benign neoplasm' SubClassOf 'benign digestive system neoplasm' 'intestinal benign neoplasm' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003079 mastocytoma 'mastocytoma' SubClassOf 'Mast Cell Neoplasm' 'mastocytoma' SubClassOf 'Mast Cell Neoplasm' http://purl.obolibrary.org/obo/MONDO_0003076 unilateral retinoblastoma 'unilateral retinoblastoma' SubClassOf 'retinoblastoma' 'unilateral retinoblastoma' SubClassOf 'retinoblastoma' http://purl.obolibrary.org/obo/MONDO_0003073 trilateral retinoblastoma 'trilateral retinoblastoma' SubClassOf 'retinoblastoma' 'trilateral retinoblastoma' SubClassOf 'retinoblastoma' http://purl.obolibrary.org/obo/MONDO_0003081 thalamic disorder 'thalamic disorder' SubClassOf 'brain disease' 'thalamic disorder' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0003086 thymic mucoepidermoid carcinoma 'thymic mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'thymic mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://purl.obolibrary.org/obo/MONDO_0003087 mucoepidermoid breast carcinoma 'mucoepidermoid breast carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'mucoepidermoid breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'mucoepidermoid breast carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'mucoepidermoid breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003089 extrahepatic bile duct mucoepidermoid carcinoma 'extrahepatic bile duct mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'extrahepatic bile duct mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://purl.obolibrary.org/obo/MONDO_0003090 extrahepatic bile duct carcinoma 'extrahepatic bile duct carcinoma' SubClassOf 'malignant tumor of extrahepatic bile duct' 'extrahepatic bile duct carcinoma' SubClassOf 'bile duct carcinoma' 'extrahepatic bile duct carcinoma' SubClassOf 'bile duct carcinoma' 'extrahepatic bile duct carcinoma' SubClassOf 'malignant tumor of extrahepatic bile duct' http://purl.obolibrary.org/obo/MONDO_0003092 lacrimal gland mucoepidermoid carcinoma 'lacrimal gland mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'lacrimal gland mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://purl.obolibrary.org/obo/MONDO_0003097 childhood mediastinal neurogenic neoplasm 'childhood mediastinal neurogenic neoplasm' SubClassOf 'childhood neoplasm' 'childhood mediastinal neurogenic neoplasm' SubClassOf 'mediastinal neural neoplasm' 'childhood mediastinal neurogenic neoplasm' SubClassOf 'childhood neoplasm' 'childhood mediastinal neurogenic neoplasm' SubClassOf 'mediastinal neural neoplasm' http://purl.obolibrary.org/obo/MONDO_0003098 mediastinal neural neoplasm 'mediastinal neural neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'nerve') and ('disease has location' some 'mediastinum') 'mediastinal neural neoplasm' SubClassOf 'neoplasm of mediastinum' 'mediastinal neural neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'nerve') and ('disease has location' some 'mediastinum') 'mediastinal neural neoplasm' SubClassOf 'neoplasm of mediastinum' http://purl.obolibrary.org/obo/MONDO_0003095 laryngeal mucoepidermoid carcinoma 'laryngeal mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'laryngeal mucoepidermoid carcinoma' SubClassOf 'laryngeal carcinoma' 'laryngeal mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'laryngeal mucoepidermoid carcinoma' SubClassOf 'laryngeal carcinoma' http://www.ebi.ac.uk/efo/EFO_0004537 neonatal systemic lupus erythematosus 'neonatal systemic lupus erythematosus' SubClassOf 'secondary neonatal autoimmune disease' 'neonatal systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' 'neonatal systemic lupus erythematosus' SubClassOf 'secondary neonatal autoimmune disease' 'neonatal systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' http://www.ebi.ac.uk/efo/EFO_0004540 chronic fatigue syndrome 'chronic fatigue syndrome' SubClassOf 'muscle tissue disorder' 'mental or behavioural disorder' DisjointWith 'chronic fatigue syndrome' 'chronic fatigue syndrome' SubClassOf 'syndromic disease' 'chronic fatigue syndrome' SubClassOf 'immunodeficiency disease' 'chronic fatigue syndrome' SubClassOf 'disease has location' some 'skeletal muscle organ, vertebrate' 'chronic fatigue syndrome' SubClassOf 'muscle tissue disorder' 'mental or behavioural disorder' DisjointWith 'chronic fatigue syndrome' 'chronic fatigue syndrome' SubClassOf 'syndromic disease' 'chronic fatigue syndrome' SubClassOf 'immunodeficiency disease' 'chronic fatigue syndrome' SubClassOf 'disease has location' some 'skeletal muscle organ, vertebrate' http://www.ebi.ac.uk/efo/EFO_0004562 cryptorchidism 'cryptorchidism' SubClassOf 'male reproductive system disease' 'cryptorchidism' SubClassOf 'genetic disorder' 'cryptorchidism' SubClassOf 'male reproductive system disease' 'cryptorchidism' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004596 diabetes mellitus type 2 associated cataract 'diabetes mellitus type 2 associated cataract' SubClassOf 'cataract' 'diabetes mellitus type 2 associated cataract' SubClassOf 'cataract' http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes 'gestational diabetes' SubClassOf 'pregnancy disorder' 'gestational diabetes' SubClassOf 'diabetes mellitus' 'gestational diabetes' SubClassOf 'pregnancy disorder' 'gestational diabetes' SubClassOf 'diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0004594 childhood eosinophilic esophagitis 'childhood eosinophilic esophagitis' SubClassOf 'eosinophilic esophagitis' 'childhood eosinophilic esophagitis' SubClassOf 'eosinophilic esophagitis' http://purl.obolibrary.org/obo/MONDO_0017706 disorder of carbohydrate transmembrane transport and absorption 'disorder of carbohydrate transmembrane transport and absorption' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorder of carbohydrate transmembrane transport and absorption' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017708 mevalonate kinase deficiency 'mevalonate kinase deficiency' SubClassOf 'sterol biosynthesis disorder' 'mevalonate kinase deficiency' SubClassOf 'hereditary periodic fever syndrome' 'mevalonate kinase deficiency' SubClassOf 'sterol biosynthesis disorder' 'mevalonate kinase deficiency' SubClassOf 'hereditary periodic fever syndrome' http://purl.obolibrary.org/obo/MONDO_0017703 disorder of glyoxylate metabolism 'disorder of glyoxylate metabolism' SubClassOf 'peroxisomal single enzyme/protein defect' 'disorder of glyoxylate metabolism' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0017704 familial partial epilepsy 'familial partial epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' 'familial partial epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'familial partial epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' 'familial partial epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0017705 congenital pulmonary venous return anomaly 'congenital pulmonary venous return anomaly' SubClassOf 'congenital pulmonary veins anomaly' 'congenital pulmonary venous return anomaly' SubClassOf 'congenital pulmonary veins anomaly' http://purl.obolibrary.org/obo/MONDO_0017700 glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 'glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017701 glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 'glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' http://purl.obolibrary.org/obo/MONDO_0017509 adactyly of foot, unilateral 'adactyly of foot, unilateral' SubClassOf 'adactyly of foot' 'adactyly of foot, unilateral' SubClassOf 'adactyly of foot' http://purl.obolibrary.org/obo/MONDO_0017504 apodia, unilateral 'apodia, unilateral' SubClassOf 'apodia' 'apodia, unilateral' SubClassOf 'apodia' http://purl.obolibrary.org/obo/MONDO_0017505 apodia, bilateral 'apodia, bilateral' SubClassOf 'apodia' 'apodia, bilateral' SubClassOf 'apodia' http://purl.obolibrary.org/obo/MONDO_0017500 congenital absence of both lower leg and foot, unilateral 'congenital absence of both lower leg and foot, unilateral' SubClassOf 'congenital absence of both lower leg and foot' 'congenital absence of both lower leg and foot, unilateral' SubClassOf 'congenital absence of both lower leg and foot' http://purl.obolibrary.org/obo/MONDO_0017501 congenital absence of both lower leg and foot, bilateral 'congenital absence of both lower leg and foot, bilateral' SubClassOf 'congenital absence of both lower leg and foot' 'congenital absence of both lower leg and foot, bilateral' SubClassOf 'congenital absence of both lower leg and foot' http://purl.obolibrary.org/obo/MONDO_0017502 acheiria, unilateral 'acheiria, unilateral' SubClassOf 'acheiria' 'acheiria, unilateral' SubClassOf 'acheiria' http://purl.obolibrary.org/obo/MONDO_0017503 acheiria, bilateral 'acheiria, bilateral' SubClassOf 'acheiria' 'acheiria, bilateral' SubClassOf 'acheiria' http://purl.obolibrary.org/obo/MONDO_0017519 symbrachydactyly of hand and foot, unilateral 'symbrachydactyly of hand and foot, unilateral' SubClassOf 'symbrachydactyly of hands and feet' 'symbrachydactyly of hand and foot, unilateral' SubClassOf 'symbrachydactyly of hands and feet' http://purl.obolibrary.org/obo/MONDO_0017515 brachydactyly of fingers, unilateral 'brachydactyly of fingers, unilateral' SubClassOf 'non-syndromic brachydactyly of fingers' 'brachydactyly of fingers, unilateral' SubClassOf 'non-syndromic brachydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017516 brachydactyly of fingers, bilateral 'brachydactyly of fingers, bilateral' SubClassOf 'non-syndromic brachydactyly of fingers' 'brachydactyly of fingers, bilateral' SubClassOf 'non-syndromic brachydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017517 brachydactyly of toes, unilateral 'brachydactyly of toes, unilateral' SubClassOf 'non-syndromic brachydactyly of toes' 'brachydactyly of toes, unilateral' SubClassOf 'non-syndromic brachydactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017518 brachydactyly of toes, bilateral 'brachydactyly of toes, bilateral' SubClassOf 'non-syndromic brachydactyly of toes' 'brachydactyly of toes, bilateral' SubClassOf 'non-syndromic brachydactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017511 split hand, unilateral 'split hand, unilateral' SubClassOf 'split hand' 'split hand, unilateral' SubClassOf 'split hand' http://purl.obolibrary.org/obo/MONDO_0017512 split hand, bilateral 'split hand, bilateral' SubClassOf 'split hand' 'split hand, bilateral' SubClassOf 'split hand' http://purl.obolibrary.org/obo/MONDO_0017513 split foot, unilateral 'split foot, unilateral' SubClassOf 'split foot' 'split foot, unilateral' SubClassOf 'split foot' http://purl.obolibrary.org/obo/MONDO_0017514 split foot, bilateral 'split foot, bilateral' SubClassOf 'split foot' 'split foot, bilateral' SubClassOf 'split foot' http://purl.obolibrary.org/obo/MONDO_0017510 adactyly of foot, bilateral 'adactyly of foot, bilateral' SubClassOf 'adactyly of foot' 'adactyly of foot, bilateral' SubClassOf 'adactyly of foot' http://purl.obolibrary.org/obo/MONDO_0017526 polydactyly of a triphalangeal thumb, bilateral 'polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'polydactyly of a triphalangeal thumb' 'polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'polydactyly of a triphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017527 polydactyly of an index finger, unilateral 'polydactyly of an index finger, unilateral' SubClassOf 'polydactyly of an index finger' 'polydactyly of an index finger, unilateral' SubClassOf 'polydactyly of an index finger' http://purl.obolibrary.org/obo/MONDO_0017528 polydactyly of an index finger, bilateral 'polydactyly of an index finger, bilateral' SubClassOf 'polydactyly of an index finger' 'polydactyly of an index finger, bilateral' SubClassOf 'polydactyly of an index finger' http://purl.obolibrary.org/obo/MONDO_0017529 polysyndactyly, unilateral 'polysyndactyly, unilateral' SubClassOf 'polysyndactyly 4' 'polysyndactyly, unilateral' SubClassOf 'polysyndactyly 4' http://purl.obolibrary.org/obo/MONDO_0017522 hyperphalangy, bilateral 'hyperphalangy, bilateral' SubClassOf 'hyperphalangy' 'hyperphalangy, bilateral' SubClassOf 'hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0017523 polydactyly of a biphalangeal thumb, unilateral 'polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'polydactyly of a biphalangeal thumb' 'polydactyly of a biphalangeal thumb, unilateral' SubClassOf 'polydactyly of a biphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017524 polydactyly of a biphalangeal thumb, bilateral 'polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'polydactyly of a biphalangeal thumb' 'polydactyly of a biphalangeal thumb, bilateral' SubClassOf 'polydactyly of a biphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017525 polydactyly of a triphalangeal thumb, unilateral 'polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'polydactyly of a triphalangeal thumb' 'polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'polydactyly of a triphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017520 symbrachydactyly of hand and foot, bilateral 'symbrachydactyly of hand and foot, bilateral' SubClassOf 'symbrachydactyly of hands and feet' 'symbrachydactyly of hand and foot, bilateral' SubClassOf 'symbrachydactyly of hands and feet' http://purl.obolibrary.org/obo/MONDO_0017521 hyperphalangy, unilateral 'hyperphalangy, unilateral' SubClassOf 'hyperphalangy' 'hyperphalangy, unilateral' SubClassOf 'hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0017537 Preaxial polydactyly of toes, unilateral 'Preaxial polydactyly of toes, unilateral' SubClassOf 'Preaxial polydactyly of toes' 'Preaxial polydactyly of toes, unilateral' SubClassOf 'Preaxial polydactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017538 Preaxial polydactyly of toes, bilateral 'Preaxial polydactyly of toes, bilateral' SubClassOf 'Preaxial polydactyly of toes' 'Preaxial polydactyly of toes, bilateral' SubClassOf 'Preaxial polydactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017533 postaxial polydactyly type B, unilateral 'postaxial polydactyly type B, unilateral' SubClassOf 'postaxial polydactyly type B' 'postaxial polydactyly type B, unilateral' SubClassOf 'postaxial polydactyly type B' http://purl.obolibrary.org/obo/MONDO_0017534 postaxial polydactyly type B, bilateral 'postaxial polydactyly type B, bilateral' SubClassOf 'postaxial polydactyly type B' 'postaxial polydactyly type B, bilateral' SubClassOf 'postaxial polydactyly type B' http://purl.obolibrary.org/obo/MONDO_0017535 central polydactyly of fingers, unilateral 'central polydactyly of fingers, unilateral' SubClassOf 'central polydactyly of fingers' 'central polydactyly of fingers, unilateral' SubClassOf 'central polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017536 central polydactyly of fingers, bilateral 'central polydactyly of fingers, bilateral' SubClassOf 'central polydactyly of fingers' 'central polydactyly of fingers, bilateral' SubClassOf 'central polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017530 polysyndactyly, bilateral 'polysyndactyly, bilateral' SubClassOf 'polysyndactyly 4' 'polysyndactyly, bilateral' SubClassOf 'polysyndactyly 4' http://purl.obolibrary.org/obo/MONDO_0017531 postaxial polydactyly type A, unilateral 'postaxial polydactyly type A, unilateral' SubClassOf 'postaxial polydactyly type A' 'postaxial polydactyly type A, unilateral' SubClassOf 'postaxial polydactyly type A' http://purl.obolibrary.org/obo/MONDO_0017532 postaxial polydactyly type A, bilateral 'postaxial polydactyly type A, bilateral' SubClassOf 'postaxial polydactyly type A' 'postaxial polydactyly type A, bilateral' SubClassOf 'postaxial polydactyly type A' http://purl.obolibrary.org/obo/MONDO_0017548 humero-radio-ulnar synostosis, unilateral 'humero-radio-ulnar synostosis, unilateral' SubClassOf 'humero-radio-ulnar synostosis' 'humero-radio-ulnar synostosis, unilateral' SubClassOf 'humero-radio-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017549 humero-radio-ulnar synostosis, bilateral 'humero-radio-ulnar synostosis, bilateral' SubClassOf 'humero-radio-ulnar synostosis' 'humero-radio-ulnar synostosis, bilateral' SubClassOf 'humero-radio-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017544 zygodactyly type 3 'zygodactyly type 3' SubClassOf 'syndactyly type 1' 'zygodactyly type 3' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0017545 zygodactyly type 4 'zygodactyly type 4' SubClassOf 'syndactyly type 1' 'zygodactyly type 4' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0017546 congenital vertical talus, unilateral 'congenital vertical talus, unilateral' SubClassOf 'congenital vertical talus' 'congenital vertical talus, unilateral' SubClassOf 'congenital vertical talus' http://purl.obolibrary.org/obo/MONDO_0017547 congenital vertical talus, bilateral 'congenital vertical talus, bilateral' SubClassOf 'congenital vertical talus' 'congenital vertical talus, bilateral' SubClassOf 'congenital vertical talus' http://purl.obolibrary.org/obo/MONDO_0017543 zygodactyly type 2 'zygodactyly type 2' SubClassOf 'syndactyly type 1' 'zygodactyly type 2' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0017559 congenital elbow dislocation, bilateral 'congenital elbow dislocation, bilateral' SubClassOf 'congenital elbow dislocation' 'congenital elbow dislocation, bilateral' SubClassOf 'congenital elbow dislocation' http://purl.obolibrary.org/obo/MONDO_0017555 radio-ulnar synostosis, bilateral 'radio-ulnar synostosis, bilateral' SubClassOf 'congenital radioulnar synostosis' 'radio-ulnar synostosis, bilateral' SubClassOf 'congenital radioulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017556 Madelung deformity, unilateral 'Madelung deformity, unilateral' SubClassOf 'Madelung deformity' 'Madelung deformity, unilateral' SubClassOf 'Madelung deformity' http://purl.obolibrary.org/obo/MONDO_0017557 Madelung deformity, bilateral 'Madelung deformity, bilateral' SubClassOf 'Madelung deformity' 'Madelung deformity, bilateral' SubClassOf 'Madelung deformity' http://purl.obolibrary.org/obo/MONDO_0017558 congenital elbow dislocation, unilateral 'congenital elbow dislocation, unilateral' SubClassOf 'congenital elbow dislocation' 'congenital elbow dislocation, unilateral' SubClassOf 'congenital elbow dislocation' http://purl.obolibrary.org/obo/MONDO_0017551 humero-radial synostosis, bilateral 'humero-radial synostosis, bilateral' SubClassOf 'humeroradial synostosis' 'humero-radial synostosis, bilateral' SubClassOf 'humeroradial synostosis' http://purl.obolibrary.org/obo/MONDO_0017552 humero-ulnar synostosis, unilateral 'humero-ulnar synostosis, unilateral' SubClassOf 'humero-ulnar synostosis' 'humero-ulnar synostosis, unilateral' SubClassOf 'humero-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017553 humero-ulnar synostosis, bilateral 'humero-ulnar synostosis, bilateral' SubClassOf 'humero-ulnar synostosis' 'humero-ulnar synostosis, bilateral' SubClassOf 'humero-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017554 radio-ulnar synostosis, unilateral 'radio-ulnar synostosis, unilateral' SubClassOf 'congenital radioulnar synostosis' 'radio-ulnar synostosis, unilateral' SubClassOf 'congenital radioulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017550 humero-radial synostosis, unilateral 'humero-radial synostosis, unilateral' SubClassOf 'humeroradial synostosis' 'humero-radial synostosis, unilateral' SubClassOf 'humeroradial synostosis' http://purl.obolibrary.org/obo/MONDO_0017566 macrodactyly of toes, unilateral 'macrodactyly of toes, unilateral' SubClassOf 'macrodactyly of toes' 'macrodactyly of toes, unilateral' SubClassOf 'macrodactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017567 macrodactyly of toes, bilateral 'macrodactyly of toes, bilateral' SubClassOf 'macrodactyly of toes' 'macrodactyly of toes, bilateral' SubClassOf 'macrodactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017568 Prata-Liberal-Goncalves syndrome 'Prata-Liberal-Goncalves syndrome' SubClassOf 'dysostosis' 'Prata-Liberal-Goncalves syndrome' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0017569 de Barsy syndrome 'de Barsy syndrome' SubClassOf 'premature aging syndrome' 'de Barsy syndrome' SubClassOf 'autosomal recessive disease' 'de Barsy syndrome' SubClassOf 'premature aging syndrome' 'de Barsy syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0017562 congenital patella dislocation, unilateral 'congenital patella dislocation, unilateral' SubClassOf 'congenital patella dislocation' 'congenital patella dislocation, unilateral' SubClassOf 'congenital patella dislocation' http://purl.obolibrary.org/obo/MONDO_0017563 congenital patella dislocation, bilateral 'congenital patella dislocation, bilateral' SubClassOf 'congenital patella dislocation' 'congenital patella dislocation, bilateral' SubClassOf 'congenital patella dislocation' http://purl.obolibrary.org/obo/MONDO_0017564 macrodactyly of fingers, unilateral 'macrodactyly of fingers, unilateral' SubClassOf 'macrodactyly of fingers' 'macrodactyly of fingers, unilateral' SubClassOf 'macrodactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017565 macrodactyly of fingers, bilateral 'macrodactyly of fingers, bilateral' SubClassOf 'macrodactyly of fingers' 'macrodactyly of fingers, bilateral' SubClassOf 'macrodactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017560 congenital genu recurvatum 'congenital genu recurvatum' SubClassOf 'congenital knee dislocation' 'congenital genu recurvatum' SubClassOf 'congenital knee dislocation' http://purl.obolibrary.org/obo/MONDO_0017561 congenital genu flexum 'congenital genu flexum' SubClassOf 'congenital knee dislocation' 'congenital genu flexum' SubClassOf 'congenital knee dislocation' http://purl.obolibrary.org/obo/MONDO_0017578 disorder of thiamine metabolism and transport 'disorder of thiamine metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' 'disorder of thiamine metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017579 Baraitser-Winter cerebrofrontofacial syndrome 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'lissencephaly spectrum disorders' 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'syndromic disease' 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'lissencephaly spectrum disorders' 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'syndromic disease' 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017573 46,XX disorder of sex development-anorectal anomalies syndrome '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf '46,XX disorder of sex development' '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf 'syndromic disease' '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf '46,XX disorder of sex development' '46,XX disorder of sex development-anorectal anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017574 chronic intestinal pseudoobstruction 'chronic intestinal pseudoobstruction' SubClassOf 'intestinal motility disease' 'chronic intestinal pseudoobstruction' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0017575 mitochondrial neurogastrointestinal encephalomyopathy 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'syndromic disease' 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'inborn disorder of pyrimidine metabolism' 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'syndromic disease' 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'inborn disorder of pyrimidine metabolism' 'mitochondrial neurogastrointestinal encephalomyopathy' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0017576 46,XX disorder of sex development '46,XX disorder of sex development' SubClassOf 'disorder of sexual differentiation' '46,XX disorder of sex development' SubClassOf 'disorder of sexual differentiation' http://purl.obolibrary.org/obo/MONDO_0017570 leukocyte adhesion deficiency 'leukocyte adhesion deficiency' SubClassOf 'functional neutrophil defect' 'leukocyte adhesion deficiency' SubClassOf 'autosomal recessive disease' 'leukocyte adhesion deficiency' SubClassOf 'functional neutrophil defect' 'leukocyte adhesion deficiency' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0017571 Proteus-like syndrome 'Proteus-like syndrome' SubClassOf 'integumentary system disease' 'Proteus-like syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus-like syndrome' SubClassOf 'disease shares features of' some 'Proteus syndrome' 'Proteus-like syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Proteus-like syndrome' SubClassOf 'integumentary system disease' 'Proteus-like syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Proteus syndrome' 'Proteus-like syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0017580 11p15.4 microduplication syndrome '11p15.4 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 11' '11p15.4 microduplication syndrome' SubClassOf 'overgrowth syndrome' '11p15.4 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '11p15.4 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 11' '11p15.4 microduplication syndrome' SubClassOf 'overgrowth syndrome' '11p15.4 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017582 pituitary adenocarcinoma 'pituitary adenocarcinoma' SubClassOf 'adenocarcinoma' 'pituitary adenocarcinoma' SubClassOf 'pituitary cancer' 'pituitary adenocarcinoma' SubClassOf 'adenocarcinoma' 'pituitary adenocarcinoma' SubClassOf 'pituitary cancer' http://purl.obolibrary.org/obo/MONDO_0017583 mirror polydactyly-vertebral segmentation-limbs defects syndrome 'mirror polydactyly-vertebral segmentation-limbs defects syndrome' SubClassOf 'syndromic disease' 'mirror polydactyly-vertebral segmentation-limbs defects syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017599 splenic diffuse red pulp small B-cell lymphoma 'splenic diffuse red pulp small B-cell lymphoma' SubClassOf 'marginal zone B-cell lymphoma' 'splenic diffuse red pulp small B-cell lymphoma' SubClassOf 'marginal zone B-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0017595 aggressive B-cell non-Hodgkin lymphoma 'aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' 'aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0017596 diffuse large B-cell lymphoma of the central nervous system 'diffuse large B-cell lymphoma of the central nervous system' SubClassOf 'diffuse large B-cell lymphoma' 'diffuse large B-cell lymphoma of the central nervous system' SubClassOf 'diffuse large B-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0017591 combined pulmonary fibrosis-emphysema syndrome 'combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'idiopathic interstitial pneumonia' 'combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'idiopathic interstitial pneumonia' http://purl.obolibrary.org/obo/MONDO_0017593 juvenile amyotrophic lateral sclerosis 'juvenile amyotrophic lateral sclerosis' SubClassOf 'familial amyotrophic lateral sclerosis' 'juvenile amyotrophic lateral sclerosis' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0017594 indolent B-cell non-Hodgkin lymphoma 'indolent B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' 'indolent B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0023283 ovarian granulosa cell tumor 'ovarian granulosa cell tumor' SubClassOf 'ovarian sex cord-stromal tumor' 'ovarian granulosa cell tumor' SubClassOf 'granulosa cell tumor' 'ovarian granulosa cell tumor' SubClassOf 'ovarian sex cord-stromal tumor' 'ovarian granulosa cell tumor' SubClassOf 'granulosa cell tumor' http://purl.obolibrary.org/obo/MONDO_0023297 guttate psoriasis 'guttate psoriasis' SubClassOf 'psoriasis' 'guttate psoriasis' SubClassOf 'psoriasis' http://purl.obolibrary.org/obo/MONDO_0013900 alternating hemiplegia of childhood 2 'alternating hemiplegia of childhood 2' SubClassOf 'alternating hemiplegia of childhood' 'alternating hemiplegia of childhood 2' SubClassOf 'alternating hemiplegia of childhood' http://purl.obolibrary.org/obo/MONDO_0013901 spermatogenic failure 10 'spermatogenic failure 10' SubClassOf 'azoospermia' 'spermatogenic failure 10' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0013906 amelogenesis imperfecta hypomaturation type 2A4 'amelogenesis imperfecta hypomaturation type 2A4' SubClassOf 'amelogenesis imperfecta type 2' 'amelogenesis imperfecta hypomaturation type 2A4' SubClassOf 'amelogenesis imperfecta type 2' http://purl.obolibrary.org/obo/MONDO_0013907 bilateral generalized polymicrogyria 'bilateral generalized polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral generalized polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0013904 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0013905 autosomal recessive spinocerebellar ataxia 13 'autosomal recessive spinocerebellar ataxia 13' SubClassOf 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' 'autosomal recessive spinocerebellar ataxia 13' SubClassOf 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' http://purl.obolibrary.org/obo/MONDO_0013918 distal tetrasomy 15q 'distal tetrasomy 15q' SubClassOf '15q overgrowth syndrome' 'distal tetrasomy 15q' SubClassOf '15q overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0013925 methylmalonic acidemia with homocystinuria, type cblJ 'methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0013922 Seckel syndrome 7 'Seckel syndrome 7' SubClassOf 'Seckel syndrome' 'Seckel syndrome 7' SubClassOf 'Seckel syndrome' http://purl.obolibrary.org/obo/MONDO_0013928 dystonia 23 'dystonia 23' SubClassOf 'focal, segmental or multifocal dystonia' 'dystonia 23' SubClassOf 'focal dystonia' 'dystonia 23' SubClassOf 'focal, segmental or multifocal dystonia' 'dystonia 23' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger) 'peroxisome biogenesis disorder 3A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX12 defect' 'peroxisome biogenesis disorder 3A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX12 defect' http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder 6A (Zellweger) 'peroxisome biogenesis disorder 6A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX10 defect' 'peroxisome biogenesis disorder 6A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX10 defect' http://purl.obolibrary.org/obo/MONDO_0013934 combined immunodeficiency due to STK4 deficiency 'combined immunodeficiency due to STK4 deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to STK4 deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013937 peroxisome biogenesis disorder 6B 'peroxisome biogenesis disorder 6B' SubClassOf 'peroxisome biogenesis disorder due to PEX10 defect' 'peroxisome biogenesis disorder 6B' SubClassOf 'peroxisome biogenesis disorder due to PEX10 defect' http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) 'peroxisome biogenesis disorder 7A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX26 defect' 'peroxisome biogenesis disorder 7A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX26 defect' http://purl.obolibrary.org/obo/MONDO_0013931 peroxisome biogenesis disorder 4B 'peroxisome biogenesis disorder 4B' SubClassOf 'peroxisome biogenesis disorder due to PEX6 defect' 'peroxisome biogenesis disorder 4B' SubClassOf 'peroxisome biogenesis disorder due to PEX6 defect' http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) 'peroxisome biogenesis disorder 5A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX2 defect' 'peroxisome biogenesis disorder 5A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX2 defect' http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger) 'peroxisome biogenesis disorder 4A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX6 defect' 'peroxisome biogenesis disorder 4A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX6 defect' http://purl.obolibrary.org/obo/MONDO_0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 'neuronopathy, distal hereditary motor, autosomal recessive 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 5' SubClassOf 'spinal muscular atrophy' 'neuronopathy, distal hereditary motor, autosomal recessive 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 5' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 'autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation' SubClassOf 'autoinflammatory syndrome' 'autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) 'peroxisome biogenesis disorder 10A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX3 defect' 'peroxisome biogenesis disorder 10A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX3 defect' http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) 'peroxisome biogenesis disorder 11A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX13 defect' 'peroxisome biogenesis disorder 11A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX13 defect' http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) 'peroxisome biogenesis disorder 8A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX16 defect' 'peroxisome biogenesis disorder 8A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX16 defect' http://purl.obolibrary.org/obo/MONDO_0013941 metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 'metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'skeletal system disease' 'metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'genetic disorder' 'metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'skeletal system disease' 'metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013957 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' 'Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0013956 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' 'Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0013959 Charcot-Marie-Tooth disease type 4F 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4F' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0013950 peroxisome biogenesis disorder 11B 'peroxisome biogenesis disorder 11B' SubClassOf 'peroxisome biogenesis disorder due to PEX13 defect' 'peroxisome biogenesis disorder 11B' SubClassOf 'peroxisome biogenesis disorder due to PEX13 defect' http://purl.obolibrary.org/obo/MONDO_0013953 immunodeficiency 28 'immunodeficiency 28' SubClassOf 'inborn error of immunity' 'immunodeficiency 28' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) 'peroxisome biogenesis disorder 12A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX19 defect' 'peroxisome biogenesis disorder 12A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX19 defect' http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger) 'peroxisome biogenesis disorder 13A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX14 defect' 'peroxisome biogenesis disorder 13A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX14 defect' http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation 'PGM1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'PGM1-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'PGM1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'PGM1-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0013969 combined oxidative phosphorylation defect type 11 'combined oxidative phosphorylation defect type 11' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 11' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013966 catecholaminergic polymorphic ventricular tachycardia 4 'catecholaminergic polymorphic ventricular tachycardia 4' SubClassOf 'catecholaminergic polymorphic ventricular tachycardia' 'catecholaminergic polymorphic ventricular tachycardia 4' SubClassOf 'catecholaminergic polymorphic ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0013967 peroxisome biogenesis disorder 14B 'peroxisome biogenesis disorder 14B' SubClassOf 'peroxisome biogenesis disorder due to PEX11B defect' 'peroxisome biogenesis disorder 14B' SubClassOf 'peroxisome biogenesis disorder due to PEX11B defect' http://purl.obolibrary.org/obo/MONDO_0013960 sinoatrial node dysfunction and deafness 'sinoatrial node dysfunction and deafness' SubClassOf 'cardiac rhythm disease' 'sinoatrial node dysfunction and deafness' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0013962 hereditary spastic paraplegia 53 'hereditary spastic paraplegia 53' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 53' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013977 combined oxidative phosphorylation defect type 13 'combined oxidative phosphorylation defect type 13' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 13' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013978 autosomal recessive nonsyndromic hearing loss 70 'autosomal recessive nonsyndromic hearing loss 70' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 70' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'leukodystrophy' 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0013972 Perrault syndrome 2 'Perrault syndrome 2' SubClassOf 'Perrault syndrome' 'Perrault syndrome 2' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease 'inherited auditory system disease' SubClassOf 'auditory system disease' 'inherited auditory system disease' SubClassOf 'auditory system disease' http://purl.obolibrary.org/obo/MONDO_0013970 branched-chain keto acid dehydrogenase kinase deficiency 'branched-chain keto acid dehydrogenase kinase deficiency' SubClassOf 'autosomal recessive disease' 'branched-chain keto acid dehydrogenase kinase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' 'branched-chain keto acid dehydrogenase kinase deficiency' SubClassOf 'autosomal recessive disease' 'branched-chain keto acid dehydrogenase kinase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0013975 ectodermal dysplasia 7, hair/nail type 'ectodermal dysplasia 7, hair/nail type' SubClassOf 'pure hair and nail ectodermal dysplasia' 'ectodermal dysplasia 7, hair/nail type' SubClassOf 'pure hair and nail ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013988 congenital heart defects, multiple types, 3 'congenital heart defects, multiple types, 3' SubClassOf 'congenital heart defects, multiple types' 'congenital heart defects, multiple types, 3' SubClassOf 'congenital heart defects, multiple types' http://purl.obolibrary.org/obo/MONDO_0037937 pyrimidine metabolism disease 'pyrimidine metabolism disease' SubClassOf 'metabolic disease' 'pyrimidine metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0013989 developmental and epileptic encephalopathy, 14 'developmental and epileptic encephalopathy, 14' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 14' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013981 myoclonus, familial 'myoclonus, familial' SubClassOf 'movement disorder' 'myoclonus, familial' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0013986 combined oxidative phosphorylation defect type 14 'combined oxidative phosphorylation defect type 14' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 14' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013987 combined oxidative phosphorylation defect type 15 'combined oxidative phosphorylation defect type 15' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 15' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013999 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome 'retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome' SubClassOf 'hereditary optic neuropathy' 'retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0013993 pontocerebellar hypoplasia type 7 'pontocerebellar hypoplasia type 7' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 7' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency 'obesity due to congenital leptin deficiency' SubClassOf 'congenital hypogonadotropic hypogonadism' 'obesity due to congenital leptin deficiency' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0013992 obesity due to leptin receptor gene deficiency 'obesity due to leptin receptor gene deficiency' SubClassOf 'congenital hypogonadotropic hypogonadism' 'obesity due to leptin receptor gene deficiency' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0013997 focal facial dermal dysplasia type IV 'focal facial dermal dysplasia type IV' SubClassOf 'focal facial dermal dysplasia' 'focal facial dermal dysplasia type IV' SubClassOf 'focal facial dermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013990 pontocerebellar hypoplasia type 8 'pontocerebellar hypoplasia type 8' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 8' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0023370 neoplastic disease or syndrome 'neoplastic disease or syndrome' SubClassOf 'cancer or benign tumor' 'neoplastic disease or syndrome' SubClassOf 'cancer or benign tumor' http://purl.obolibrary.org/obo/MONDO_0023161 viral myocarditis 'viral myocarditis' SubClassOf 'myocarditis' 'viral myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/MONDO_0023164 viral pericarditis 'viral pericarditis' SubClassOf 'pericarditis' 'viral pericarditis' SubClassOf 'pericarditis' http://purl.obolibrary.org/obo/MONDO_0023154 fibromatosis multiple non ossifying 'fibromatosis multiple non ossifying' SubClassOf 'syndromic disease' 'fibromatosis multiple non ossifying' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0037792 carbohydrate metabolism disease 'carbohydrate metabolism disease' SubClassOf 'metabolic disease' 'carbohydrate metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0859575 Atelis syndrome 1 'Atelis syndrome 1' SubClassOf 'mosaic variegated aneuploidy syndrome' 'Atelis syndrome 1' SubClassOf 'Atelis syndrome' 'Atelis syndrome 1' SubClassOf 'mosaic variegated aneuploidy syndrome' 'Atelis syndrome 1' SubClassOf 'Atelis syndrome' http://purl.obolibrary.org/obo/MONDO_0859576 Atelis syndrome 2 'Atelis syndrome 2' SubClassOf 'mosaic variegated aneuploidy syndrome' 'Atelis syndrome 2' SubClassOf 'Atelis syndrome' 'Atelis syndrome 2' SubClassOf 'mosaic variegated aneuploidy syndrome' 'Atelis syndrome 2' SubClassOf 'Atelis syndrome' http://purl.obolibrary.org/obo/MONDO_0859578 lacrimoauriculodentodigital syndrome 3 'lacrimoauriculodentodigital syndrome 3' SubClassOf 'LADD syndrome' 'lacrimoauriculodentodigital syndrome 3' SubClassOf 'LADD syndrome' http://purl.obolibrary.org/obo/MONDO_0859571 diaphragmatic hernia 4, with cardiovascular defects 'diaphragmatic hernia 4, with cardiovascular defects' SubClassOf 'congenital diaphragmatic hernia' 'diaphragmatic hernia 4, with cardiovascular defects' SubClassOf 'congenital diaphragmatic hernia' http://purl.obolibrary.org/obo/MONDO_0859570 braddock-carey syndrome 2 'braddock-carey syndrome 2' SubClassOf 'Braddock-Carey syndrome' 'braddock-carey syndrome 2' SubClassOf 'Braddock-Carey syndrome' http://purl.obolibrary.org/obo/MONDO_0859520 mitochondrial complex IV deficiency, nuclear type 23 'mitochondrial complex IV deficiency, nuclear type 23' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex IV deficiency, nuclear type 23' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0859517 congenital myopathy 2b, severe infantile, autosomal recessive 'congenital myopathy 2b, severe infantile, autosomal recessive' SubClassOf 'congenital myopathy' 'congenital myopathy 2b, severe infantile, autosomal recessive' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia 'leukodystrophy, hypomyelinating, 26, with chondrodysplasia' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 26, with chondrodysplasia' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0859519 neurodevelopmental disorder with absent speech and movement and behavioral abnormalities 'neurodevelopmental disorder with absent speech and movement and behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with absent speech and movement and behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859514 congenital myopathy 18 'congenital myopathy 18' SubClassOf 'congenital myopathy' 'congenital myopathy 18' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0013801 developmental and epileptic encephalopathy, 13 'developmental and epileptic encephalopathy, 13' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 13' SubClassOf 'undetermined early-onset epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013802 infantile cerebellar-retinal degeneration 'infantile cerebellar-retinal degeneration' SubClassOf 'inherited retinal dystrophy' 'infantile cerebellar-retinal degeneration' SubClassOf 'tricarboxylic acid cycle disorder' 'infantile cerebellar-retinal degeneration' SubClassOf 'inherited neurodegenerative disorder' 'infantile cerebellar-retinal degeneration' SubClassOf 'inherited retinal dystrophy' 'infantile cerebellar-retinal degeneration' SubClassOf 'tricarboxylic acid cycle disorder' 'infantile cerebellar-retinal degeneration' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0013808 Maffucci syndrome 'Maffucci syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Maffucci syndrome' SubClassOf 'overgrowth syndrome' 'Maffucci syndrome' SubClassOf 'skin vascular disease' 'Maffucci syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Maffucci syndrome' SubClassOf 'overgrowth syndrome' 'Maffucci syndrome' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0013805 intellectual disability, autosomal dominant 13 'intellectual disability, autosomal dominant 13' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 13' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 'familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'hereditary neoplastic syndrome' 'familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'skin vascular disease' 'familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'skin vascular disease' 'familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0013800 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 'Ehlers-Danlos syndrome, kyphoscoliotic type, 2' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic type, 2' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0013815 bent bone dysplasia syndrome 1 'bent bone dysplasia syndrome 1' SubClassOf 'familial bent bone dysplasia syndrome' 'bent bone dysplasia syndrome 1' SubClassOf 'familial bent bone dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0013813 dystonia 21 'dystonia 21' SubClassOf 'generalized dystonia' 'dystonia 21' SubClassOf 'generalized dystonia' http://purl.obolibrary.org/obo/MONDO_0013810 COG6-ongenital disorder of glycosylation 'COG6-ongenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG6-ongenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG6-ongenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG6-ongenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0013811 combined oxidative phosphorylation defect type 9 'combined oxidative phosphorylation defect type 9' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 9' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013825 congenital diarrhea 6 'congenital diarrhea 6' SubClassOf 'congenital diarrhea' 'congenital diarrhea 6' SubClassOf 'intestinal motility disease' 'congenital diarrhea 6' SubClassOf 'congenital diarrhea' 'congenital diarrhea 6' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0013826 autosomal recessive nonsyndromic hearing loss 86 'autosomal recessive nonsyndromic hearing loss 86' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 86' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0013824 Joubert syndrome 17 'Joubert syndrome 17' SubClassOf 'Joubert syndrome' 'Joubert syndrome 17' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0013829 UV-sensitive syndrome 2 'UV-sensitive syndrome 2' SubClassOf 'UV-sensitive syndrome' 'UV-sensitive syndrome 2' SubClassOf 'UV-sensitive syndrome' http://purl.obolibrary.org/obo/MONDO_0013822 acrodysostosis 2 with or without hormone resistance 'acrodysostosis 2 with or without hormone resistance' SubClassOf 'acrodysostosis' 'acrodysostosis 2 with or without hormone resistance' SubClassOf 'acrodysostosis' http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness 'familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'coenzyme Q10 deficiency' 'familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome 'deafness-encephaloneuropathy-obesity-valvulopathy syndrome' SubClassOf 'coenzyme Q10 deficiency' 'deafness-encephaloneuropathy-obesity-valvulopathy syndrome' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0013835 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0013838 coenzyme Q10 deficiency, primary, 3 'coenzyme Q10 deficiency, primary, 3' SubClassOf 'coenzyme Q10 deficiency' 'coenzyme Q10 deficiency, primary, 3' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0013839 hereditary sensory and autonomic neuropathy type 6 'hereditary sensory and autonomic neuropathy type 6' SubClassOf 'hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 6' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0013847 chromosome 16p11.2 duplication syndrome 'chromosome 16p11.2 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' 'chromosome 16p11.2 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0013848 dilated cardiomyopathy 2B 'dilated cardiomyopathy 2B' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 2B' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 'encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome' SubClassOf 'coenzyme Q10 deficiency' 'encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'intestinal motility disease' 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0013859 cataract 38 'cataract 38' SubClassOf 'early-onset non-syndromic cataract' 'cataract 38' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0037829 purine metabolism disease 'purine metabolism disease' SubClassOf 'metabolic disease' 'purine metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0013851 autosomal dominant aplasia and myelodysplasia 'autosomal dominant aplasia and myelodysplasia' SubClassOf 'bone marrow failure syndrome' 'autosomal dominant aplasia and myelodysplasia' SubClassOf 'inherited aplastic anemia' 'autosomal dominant aplasia and myelodysplasia' SubClassOf 'bone marrow failure syndrome' 'autosomal dominant aplasia and myelodysplasia' SubClassOf 'inherited aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0037821 porphyrin metabolism disease 'porphyrin metabolism disease' SubClassOf 'metabolic disease' 'porphyrin metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0013855 influenza, severe, susceptibility to 'influenza, severe, susceptibility to' SubClassOf 'predisposes towards' some 'influenza' 'influenza, severe, susceptibility to' SubClassOf 'inherited disease susceptibility' 'influenza, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'influenza' 'influenza, severe, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0013869 adenine phosphoribosyltransferase deficiency 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of amino acid metabolism' 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0013862 immunodeficiency, common variable, 7 'immunodeficiency, common variable, 7' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 7' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis 'idiopathic membranous glomerulonephritis' SubClassOf 'membranous glomerulonephritis' 'idiopathic membranous glomerulonephritis' SubClassOf 'membranous glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 'mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' 'mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013866 neuronal ceroid lipofuscinosis 11 'neuronal ceroid lipofuscinosis 11' SubClassOf 'adult neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 11' SubClassOf 'adult neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0013863 combined immunodeficiency due to LRBA deficiency 'combined immunodeficiency due to LRBA deficiency' SubClassOf 'common variable immunodeficiency' 'combined immunodeficiency due to LRBA deficiency' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013872 prostate cancer, hereditary, 2 'prostate cancer, hereditary, 2' SubClassOf 'familial prostate carcinoma' 'prostate cancer, hereditary, 2' SubClassOf 'familial prostate carcinoma' http://purl.obolibrary.org/obo/MONDO_0013873 IMAGe syndrome 'IMAGe syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'IMAGe syndrome' SubClassOf 'syndromic disease' 'IMAGe syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'IMAGe syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013870 TMEM165-congenital disorder of glycosylation 'TMEM165-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'TMEM165-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'TMEM165-congenital disorder of glycosylation' SubClassOf 'spondyloepiphyseal dysplasia' 'TMEM165-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'TMEM165-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'TMEM165-congenital disorder of glycosylation' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013876 basal cell carcinoma, susceptibility to, 7 'basal cell carcinoma, susceptibility to, 7' SubClassOf 'basal cell carcinoma, susceptibility to' 'basal cell carcinoma, susceptibility to, 7' SubClassOf 'predisposes towards' some 'skin basal cell carcinoma' 'basal cell carcinoma, susceptibility to, 7' SubClassOf 'basal cell carcinoma, susceptibility to' 'basal cell carcinoma, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0013877 mitochondrial pyruvate carrier deficiency 'mitochondrial pyruvate carrier deficiency' SubClassOf 'pyruvate metabolism disorder' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'pyruvate metabolism disorder' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'SERAC1-related neurological disorder' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'SERAC1-related neurological disorder' http://purl.obolibrary.org/obo/MONDO_0023206 functional pancreatic neuroendocrine tumor 'functional pancreatic neuroendocrine tumor' EquivalentTo 'functioning endocrine neoplasm' and 'pancreatic neuroendocrine tumor' 'functional pancreatic neuroendocrine tumor' SubClassOf 'functioning endocrine neoplasm' 'functional pancreatic neuroendocrine tumor' SubClassOf 'pancreatic neuroendocrine tumor' 'functional pancreatic neuroendocrine tumor' EquivalentTo 'functioning endocrine neoplasm' and 'pancreatic neuroendocrine tumor' 'functional pancreatic neuroendocrine tumor' SubClassOf 'functioning endocrine neoplasm' 'functional pancreatic neuroendocrine tumor' SubClassOf 'pancreatic neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0013884 neuronopathy, distal hereditary motor, type 5B 'neuronopathy, distal hereditary motor, type 5B' SubClassOf 'neuronopathy, distal hereditary motor, type 5' 'neuronopathy, distal hereditary motor, type 5B' SubClassOf 'neuronopathy, distal hereditary motor, type 5' http://purl.obolibrary.org/obo/MONDO_0013881 pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome 'pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome' SubClassOf 'junctional epidermolysis bullosa' 'pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0013885 Malan overgrowth syndrome 'Malan overgrowth syndrome' SubClassOf 'overgrowth syndrome' 'Malan overgrowth syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Malan overgrowth syndrome' SubClassOf 'overgrowth syndrome' 'Malan overgrowth syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0013886 cerebellar dysfunction with variable cognitive and behavioral abnormalities 'cerebellar dysfunction with variable cognitive and behavioral abnormalities' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'cerebellar dysfunction with variable cognitive and behavioral abnormalities' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 'short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'syndromic disease' 'short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis 'C3 glomerulonephritis' SubClassOf 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' 'C3 glomerulonephritis' SubClassOf 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0013893 multiple sclerosis, susceptibility to, 5 'multiple sclerosis, susceptibility to, 5' SubClassOf 'multiple sclerosis, susceptibility to' 'multiple sclerosis, susceptibility to, 5' SubClassOf 'multiple sclerosis, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0013898 karyomegalic interstitial nephritis 'karyomegalic interstitial nephritis' SubClassOf 'hereditary nephritis' 'karyomegalic interstitial nephritis' SubClassOf 'interstitial nephritis' 'karyomegalic interstitial nephritis' SubClassOf 'hereditary nephritis' 'karyomegalic interstitial nephritis' SubClassOf 'interstitial nephritis' http://purl.obolibrary.org/obo/MONDO_0013899 Weill-Marchesani syndrome 3 'Weill-Marchesani syndrome 3' SubClassOf 'LTBP2-related ocular dysgenesis' 'Weill-Marchesani syndrome 3' SubClassOf 'Weill-Marchesani syndrome' 'Weill-Marchesani syndrome 3' SubClassOf 'LTBP2-related ocular dysgenesis' 'Weill-Marchesani syndrome 3' SubClassOf 'Weill-Marchesani syndrome' http://purl.obolibrary.org/obo/MONDO_0013896 Joubert syndrome 18 'Joubert syndrome 18' SubClassOf 'Joubert syndrome' 'Joubert syndrome 18' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores 'congenital myopathy with internal nuclei and atypical cores' SubClassOf 'centronuclear myopathy' 'congenital myopathy with internal nuclei and atypical cores' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0013891 amyotrophic lateral sclerosis type 18 'amyotrophic lateral sclerosis type 18' SubClassOf 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis type 18' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0037858 inherited fatty acid metabolism disorder 'inherited fatty acid metabolism disorder' SubClassOf 'inherited lipid metabolism disorder' 'inherited fatty acid metabolism disorder' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0023243 glass-chapman-hockley syndrome 'glass-chapman-hockley syndrome' SubClassOf 'craniosynostosis' 'glass-chapman-hockley syndrome' SubClassOf 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0023246 linear porokeratosis 'linear porokeratosis' SubClassOf 'porokeratosis' 'linear porokeratosis' SubClassOf 'porokeratosis' http://purl.obolibrary.org/obo/MONDO_0037872 bordetellosis 'bordetellosis' SubClassOf 'gram-negative bacterial infections' 'bordetellosis' SubClassOf 'gram-negative bacterial infections' http://purl.obolibrary.org/obo/MONDO_0037871 amino acid metabolism disease 'amino acid metabolism disease' SubClassOf 'metabolic disease' 'amino acid metabolism disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0023258 glycogen storage disease type 1 due to SLC37A4 mutation 'glycogen storage disease type 1 due to SLC37A4 mutation' SubClassOf 'glycogen storage disease I' 'glycogen storage disease type 1 due to SLC37A4 mutation' SubClassOf 'glycogen storage disease I' http://purl.obolibrary.org/obo/MONDO_0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss 'neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859298 neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly 'neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly' SubClassOf 'Neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_0008533 dyspepsia 'dyspepsia' SubClassOf 'functional gastric disease' 'dyspepsia' SubClassOf 'functional gastric disease' http://purl.obolibrary.org/obo/MONDO_0859293 neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment 'neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859295 neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties 'neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties' SubClassOf 'Neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_0008521 rhinitis 'rhinitis' SubClassOf 'nasal cavity disorder' 'rhinitis' SubClassOf 'nasal cavity disorder' http://purl.obolibrary.org/obo/MONDO_0859281 intellectual developmental disorder with autism and dysmorphic facies 'intellectual developmental disorder with autism and dysmorphic facies' SubClassOf 'genetic disorder' 'intellectual developmental disorder with autism and dysmorphic facies' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0008528 urothelial carcinoma 'urothelial carcinoma' SubClassOf 'Malignant Urinary System Neoplasm' 'urothelial carcinoma' SubClassOf 'urothelial neoplasm' 'urothelial carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'urothelial carcinoma' SubClassOf 'Malignant Urinary System Neoplasm' 'urothelial carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'urothelial carcinoma' SubClassOf 'urothelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0008524 small cell carcinoma 'small cell carcinoma' SubClassOf 'neuroendocrine carcinoma' 'small cell carcinoma' SubClassOf 'neuroendocrine carcinoma' http://www.ebi.ac.uk/efo/EFO_0008525 spinal muscular atrophy 'spinal muscular atrophy' SubClassOf 'motor neuron disease' 'spinal muscular atrophy' SubClassOf 'anterior horn disorder' 'spinal muscular atrophy' SubClassOf 'anterior horn disorder' 'spinal muscular atrophy' SubClassOf 'motor neuron disease' http://www.ebi.ac.uk/efo/EFO_0008526 status epilepticus 'status epilepticus' SubClassOf 'epilepsy' 'status epilepticus' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0859274 neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies 'neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0023069 enlarged vestibular aqueduct syndrome 'enlarged vestibular aqueduct syndrome' SubClassOf 'syndromic disease' 'enlarged vestibular aqueduct syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0859277 intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects 'intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects' SubClassOf 'genetic disorder' 'intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0008550 Hepatobiliary Neoplasm 'Hepatobiliary Neoplasm' SubClassOf 'digestive system neoplasm' 'Hepatobiliary Neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0859272 neurodevelopmental disorder with speech delay and variable ocular anomalies 'neurodevelopmental disorder with speech delay and variable ocular anomalies' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with speech delay and variable ocular anomalies' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859273 liver disease, severe congenital 'liver disease, severe congenital' SubClassOf 'liver disease' 'liver disease, severe congenital' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0859263 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 'developmental delay, impaired speech, and behavioral abnormalities, with or without seizures' SubClassOf 'genetic disorder' 'developmental delay, impaired speech, and behavioral abnormalities, with or without seizures' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0008545 Malignant Breast Phyllodes Tumor 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast phyllodes tumor' 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast cancer' 'Malignant Breast Phyllodes Tumor' SubClassOf 'malignant phyllodes tumor' 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast phyllodes tumor' 'Malignant Breast Phyllodes Tumor' SubClassOf 'breast cancer' 'Malignant Breast Phyllodes Tumor' SubClassOf 'malignant phyllodes tumor' http://www.ebi.ac.uk/efo/EFO_0008549 digestive system neoplasm 'digestive system neoplasm' SubClassOf 'neoplasm' 'digestive system neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0859258 neurodevelopmental disorder with dystonia and seizures 'neurodevelopmental disorder with dystonia and seizures' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with dystonia and seizures' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859253 osteoporosis, childhood- or juvenile-onset, with developmental delay 'osteoporosis, childhood- or juvenile-onset, with developmental delay' SubClassOf 'genetic disorder' 'osteoporosis, childhood- or juvenile-onset, with developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859254 hepatorenocardiac degenerative fibrosis 'hepatorenocardiac degenerative fibrosis' SubClassOf 'genetic disorder' 'hepatorenocardiac degenerative fibrosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859255 peripheral motor neuropathy, childhood-onset, biotin-responsive 'peripheral motor neuropathy, childhood-onset, biotin-responsive' SubClassOf 'motor peripheral neuropathy' 'peripheral motor neuropathy, childhood-onset, biotin-responsive' SubClassOf 'motor peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0008571 viral conjunctivitis 'viral conjunctivitis' SubClassOf 'conjunctivitis' 'viral conjunctivitis' SubClassOf 'conjunctivitis' http://www.ebi.ac.uk/efo/EFO_0008573 alcoholic liver disease 'alcoholic liver disease' SubClassOf 'alcohol-induced disorders' 'alcoholic liver disease' SubClassOf 'liver disease' 'alcoholic liver disease' SubClassOf 'alcohol-induced disorders' 'alcoholic liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0859249 parenti-mignot neurodevelopmental syndrome 'parenti-mignot neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' 'parenti-mignot neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_0008581 salivary gland disease 'salivary gland disease' SubClassOf 'mouth disease' 'salivary gland disease' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0859246 leukodystrophy, childhood-onset, remitting 'leukodystrophy, childhood-onset, remitting' SubClassOf 'leukodystrophy' 'leukodystrophy, childhood-onset, remitting' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0859247 neurocardiofaciodigital syndrome 'neurocardiofaciodigital syndrome' SubClassOf 'genetic disorder' 'neurocardiofaciodigital syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859248 corneal dystrophy, punctiform and polychromatic pre-descemet 'corneal dystrophy, punctiform and polychromatic pre-descemet' SubClassOf 'corneal dystrophy' 'corneal dystrophy, punctiform and polychromatic pre-descemet' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0859241 neurodegeneration, childhood-onset, with progressive microcephaly 'neurodegeneration, childhood-onset, with progressive microcephaly' SubClassOf 'neurodegenerative disease' 'neurodegeneration, childhood-onset, with progressive microcephaly' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0859244 phosphoribosylaminoimidazole carboxylase deficiency 'phosphoribosylaminoimidazole carboxylase deficiency' SubClassOf 'genetic disorder' 'phosphoribosylaminoimidazole carboxylase deficiency' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0008560 female infertility 'female infertility' SubClassOf 'female reproductive system disease' 'female infertility' SubClassOf 'infertility' 'female infertility' SubClassOf 'female reproductive system disease' 'female infertility' SubClassOf 'infertility' http://purl.obolibrary.org/obo/MONDO_0859240 intellectual developmental disorder with or without peripheral neuropathy 'intellectual developmental disorder with or without peripheral neuropathy' SubClassOf 'genetic disorder' 'intellectual developmental disorder with or without peripheral neuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859238 hypoalphalipoproteinemia, primary, 2, intermediate 'hypoalphalipoproteinemia, primary, 2, intermediate' SubClassOf 'hypoalphalipoproteinemia, primary, 2' 'hypoalphalipoproteinemia, primary, 2, intermediate' SubClassOf 'hypoalphalipoproteinemia, primary, 2' http://purl.obolibrary.org/obo/MONDO_0859239 Chilton-Okur-Chung neurodevelopmental syndrome 'Chilton-Okur-Chung neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' 'Chilton-Okur-Chung neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859234 agammaglobulinemia 8b, autosomal recessive 'agammaglobulinemia 8b, autosomal recessive' SubClassOf 'agammaglobulinemia' 'agammaglobulinemia 8b, autosomal recessive' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0859236 neurodevelopmental disorder with neuromuscular and skeletal abnormalities 'neurodevelopmental disorder with neuromuscular and skeletal abnormalities' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with neuromuscular and skeletal abnormalities' SubClassOf 'Neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_0008597 anti-p200 pemphigoid 'anti-p200 pemphigoid' SubClassOf 'autoimmune bullous skin disease' 'anti-p200 pemphigoid' SubClassOf 'autoimmune bullous skin disease' http://purl.obolibrary.org/obo/MONDO_0859231 macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin 'macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin' SubClassOf 'genetic disorder' 'macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0008598 autoimmune bullous skin disease 'autoimmune bullous skin disease' SubClassOf 'dermatitis' 'autoimmune bullous skin disease' SubClassOf 'dermatitis' http://purl.obolibrary.org/obo/MONDO_0859233 epidermolysis bullosa, junctional 6, with pyloric atresia 'epidermolysis bullosa, junctional 6, with pyloric atresia' SubClassOf 'junctional epidermolysis bullosa' 'epidermolysis bullosa, junctional 6, with pyloric atresia' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0859228 combined oxidative phosphorylation deficiency 55 'combined oxidative phosphorylation deficiency 55' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 55' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0859229 cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism 'cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism' SubClassOf 'genetic disorder' 'cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859223 congenital disorder of glycosylation, type Iw, autosomal dominant 'congenital disorder of glycosylation, type Iw, autosomal dominant' SubClassOf 'congenital disorder of glycosylation' 'congenital disorder of glycosylation, type Iw, autosomal dominant' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0859226 craniotubular dysplasia, Ikegawa type 'craniotubular dysplasia, Ikegawa type' SubClassOf 'skeletal dysplasia' 'craniotubular dysplasia, Ikegawa type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0859220 Ferguson-Bonni neurodevelopmental syndrome 'Ferguson-Bonni neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' 'Ferguson-Bonni neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859221 Yoon-Bellen neurodevelopmental syndrome 'Yoon-Bellen neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' 'Yoon-Bellen neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_0008588 peritonitis 'peritonitis' SubClassOf 'digestive system disease' 'peritonitis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0008583 acute myocardial infarction 'acute myocardial infarction' SubClassOf 'myocardial infarction' 'acute myocardial infarction' SubClassOf 'myocardial infarction' http://purl.obolibrary.org/obo/MONDO_0859217 Brunet-Wagner neurodevelopmental syndrome 'Brunet-Wagner neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' 'Brunet-Wagner neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_0008590 Status Asthmaticus 'Status Asthmaticus' SubClassOf 'asthma' 'Status Asthmaticus' SubClassOf 'asthma' http://purl.obolibrary.org/obo/MONDO_0859219 Rauch-Steindl syndrome 'Rauch-Steindl syndrome' SubClassOf 'genetic disorder' 'Rauch-Steindl syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859214 Marbach-Schaaf neurodevelopmental syndrome 'Marbach-Schaaf neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' 'Marbach-Schaaf neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859211 neurodevelopmental disorder with hyperkinetic movements and dyskinesia 'neurodevelopmental disorder with hyperkinetic movements and dyskinesia' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with hyperkinetic movements and dyskinesia' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859209 Zaki syndrome 'Zaki syndrome' SubClassOf 'genetic disorder' 'Zaki syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859205 delayed puberty, self-limited 'delayed puberty, self-limited' SubClassOf 'genetic disorder' 'delayed puberty, self-limited' SubClassOf 'female reproductive system disease' 'delayed puberty, self-limited' SubClassOf 'genetic disorder' 'delayed puberty, self-limited' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0859207 neurodevelopmental disorder with hypotonia and gross motor and speech delay 'neurodevelopmental disorder with hypotonia and gross motor and speech delay' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with hypotonia and gross motor and speech delay' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859208 Hengel-Maroofian-Schols syndrome 'Hengel-Maroofian-Schols syndrome' SubClassOf 'genetic disorder' 'Hengel-Maroofian-Schols syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859203 rhizomelic dysplasia, Ain-Naz type 'rhizomelic dysplasia, Ain-Naz type' SubClassOf 'skeletal dysplasia' 'rhizomelic dysplasia, Ain-Naz type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0859204 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 'fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies' SubClassOf 'genetic disorder' 'fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859200 cerebellar ataxia, brain abnormalities, and cardiac conduction defects 'cerebellar ataxia, brain abnormalities, and cardiac conduction defects' SubClassOf 'genetic disorder' 'cerebellar ataxia, brain abnormalities, and cardiac conduction defects' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/GO_0019853 L-ascorbic acid biosynthetic process 'L-ascorbic acid biosynthetic process' SubClassOf 'organic cyclic compound biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0013702 intellectual disability, autosomal recessive 27 'intellectual disability, autosomal recessive 27' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 27' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013700 pancreatic triacylglycerol lipase deficiency 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'inherited lipid metabolism disorder' 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'pancreas disease' 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'inherited lipid metabolism disorder' 'pancreatic triacylglycerol lipase deficiency' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0013713 dengue virus, susceptibility to 'dengue virus, susceptibility to' SubClassOf 'predisposes towards' some 'dengue disease' 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'dengue disease') 'dengue virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'dengue disease' 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'dengue disease') http://purl.obolibrary.org/obo/MONDO_0013714 mannose-binding lectin deficiency 'mannose-binding lectin deficiency' SubClassOf 'disorder of lectin complement activation pathway' 'mannose-binding lectin deficiency' SubClassOf 'disorder of lectin complement activation pathway' http://purl.obolibrary.org/obo/MONDO_0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'autosomal dominant distal myopathy' 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 'encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1' SubClassOf 'encephalopathy due to mitochondrial and peroxisomal fission defect' 'encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1' SubClassOf 'Mendelian encephalopathy' 'encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1' SubClassOf 'encephalopathy due to mitochondrial and peroxisomal fission defect' 'encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1' SubClassOf 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013724 bacteremia, susceptibility to, 2 'bacteremia, susceptibility to, 2' SubClassOf 'bacteremia, susceptibility' 'bacteremia, susceptibility to, 2' SubClassOf 'bacteremia, susceptibility' http://purl.obolibrary.org/obo/MONDO_0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'reproductive system disease' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'syndromic disease' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'leukodystrophy' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'endocrine system disease' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'reproductive system disease' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'syndromic disease' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'leukodystrophy' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0013723 bacteremia, susceptibility to, 1 'bacteremia, susceptibility to, 1' SubClassOf 'bacteremia, susceptibility' 'bacteremia, susceptibility to, 1' SubClassOf 'bacteremia, susceptibility' http://purl.obolibrary.org/obo/MONDO_0013721 complement component 4a deficiency 'complement component 4a deficiency' SubClassOf 'classic complement early component deficiency' 'complement component 4a deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' 'complement component 4a deficiency' SubClassOf 'classic complement early component deficiency' 'complement component 4a deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' http://purl.obolibrary.org/obo/MONDO_0013737 hereditary spastic paraplegia 46 'hereditary spastic paraplegia 46' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 46' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 'microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013730 graft versus host disease 'graft versus host disease' SubClassOf 'disease related to hematopoietic stem cell transplant' 'graft versus host disease' SubClassOf 'immune system disease' 'graft versus host disease' SubClassOf 'disease related to hematopoietic stem cell transplant' 'graft versus host disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-related myopathy 'MEGF10-related myopathy' SubClassOf 'congenital myopathy' 'MEGF10-related myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0013732 glucocorticoid therapy, response to 'glucocorticoid therapy, response to' SubClassOf 'genetic disorder' 'glucocorticoid therapy, response to' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013748 ventricular septal defect 2 'ventricular septal defect 2' SubClassOf 'ventricular septal defect' 'ventricular septal defect 2' SubClassOf 'ventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0013749 ventricular septal defect 3 'ventricular septal defect 3' SubClassOf 'ventricular septal defect' 'ventricular septal defect 3' SubClassOf 'ventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0013746 ventricular septal defect 1 'ventricular septal defect 1' SubClassOf 'ventricular septal defect' 'ventricular septal defect 1' SubClassOf 'ventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0013747 atrioventricular septal defect 4 'atrioventricular septal defect 4' SubClassOf 'familial atrioventricular septal defect' 'atrioventricular septal defect 4' SubClassOf 'familial atrioventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0013740 lethal occipital encephalocele-skeletal dysplasia syndrome 'lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'syndromic craniosynostosis' 'lethal occipital encephalocele-skeletal dysplasia syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0013741 familial temporal lobe epilepsy 5 'familial temporal lobe epilepsy 5' SubClassOf 'temporal lobe epilepsy' 'familial temporal lobe epilepsy 5' SubClassOf 'temporal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 'autosomal systemic lupus erythematosus type 16' SubClassOf 'systemic lupus erythematosus' 'autosomal systemic lupus erythematosus type 16' SubClassOf 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0013758 Charcot-Marie-Tooth disease dominant intermediate E 'Charcot-Marie-Tooth disease dominant intermediate E' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease dominant intermediate E' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0013751 cutis laxa, autosomal dominant 2 'cutis laxa, autosomal dominant 2' SubClassOf 'autosomal dominant cutis laxa' 'cutis laxa, autosomal dominant 2' SubClassOf 'autosomal dominant cutis laxa' http://purl.obolibrary.org/obo/MONDO_0013752 hypoplastic left heart syndrome 2 'hypoplastic left heart syndrome 2' SubClassOf 'hypoplastic left heart syndrome' 'hypoplastic left heart syndrome 2' SubClassOf 'hypoplastic left heart syndrome' http://purl.obolibrary.org/obo/MONDO_0013750 atrial septal defect 8 'atrial septal defect 8' SubClassOf 'atrial heart septal defect' 'atrial septal defect 8' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0013755 PYCR1-related de Barsy syndrome 'PYCR1-related de Barsy syndrome' SubClassOf 'de Barsy syndrome' 'PYCR1-related de Barsy syndrome' SubClassOf 'inherited cutis laxa' 'PYCR1-related de Barsy syndrome' SubClassOf 'de Barsy syndrome' 'PYCR1-related de Barsy syndrome' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0013753 Charcot-Marie-Tooth disease axonal type 2P 'Charcot-Marie-Tooth disease axonal type 2P' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2P' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0013768 arterial calcification, generalized, of infancy, 2 'arterial calcification, generalized, of infancy, 2' SubClassOf 'arterial calcification of infancy' 'arterial calcification, generalized, of infancy, 2' SubClassOf 'arterial calcification of infancy' http://purl.obolibrary.org/obo/MONDO_0013769 atrioventricular septal defect 5 'atrioventricular septal defect 5' SubClassOf 'GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes' 'atrioventricular septal defect 5' SubClassOf 'familial atrioventricular septal defect' 'atrioventricular septal defect 5' SubClassOf 'GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes' 'atrioventricular septal defect 5' SubClassOf 'familial atrioventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0013762 lipoic acid synthetase deficiency 'lipoic acid synthetase deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'lipoic acid synthetase deficiency' SubClassOf 'inherited lipoic acid biosynthesis defect' 'lipoic acid synthetase deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'lipoic acid synthetase deficiency' SubClassOf 'inherited lipoic acid biosynthesis defect' http://purl.obolibrary.org/obo/MONDO_0013761 childhood encephalopathy due to thiamine pyrophosphokinase deficiency 'childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'thiamine-responsive dysfunction syndrome' 'childhood encephalopathy due to thiamine pyrophosphokinase deficiency' SubClassOf 'thiamine-responsive dysfunction syndrome' http://purl.obolibrary.org/obo/MONDO_0013766 familial cold autoinflammatory syndrome 3 'familial cold autoinflammatory syndrome 3' SubClassOf 'familial cold autoinflammatory syndrome' 'familial cold autoinflammatory syndrome 3' SubClassOf 'familial cold autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0013767 autoimmune lymphoproliferative syndrome type 4 'autoimmune lymphoproliferative syndrome type 4' SubClassOf 'autoimmune lymphoproliferative syndrome' 'autoimmune lymphoproliferative syndrome type 4' SubClassOf 'autoimmune lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0037748 hyperlipoproteinemia 'hyperlipoproteinemia' SubClassOf 'disease has major feature' some 'Hyperlipoproteinemia' 'hyperlipoproteinemia' SubClassOf 'metabolic disease' 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipoproteinemia') 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipoproteinemia') 'hyperlipoproteinemia' SubClassOf 'metabolic disease' 'hyperlipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0037740 malignant central nervous system mesenchymal, non-meningothelial neoplasm 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' SubClassOf 'malignant soft tissue neoplasm' 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' SubClassOf 'central nervous system cancer' 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' SubClassOf 'central nervous system mesenchymal non-meningothelial tumor' 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' SubClassOf 'malignant soft tissue neoplasm' 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' SubClassOf 'central nervous system cancer' 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' SubClassOf 'central nervous system mesenchymal non-meningothelial tumor' http://purl.obolibrary.org/obo/MONDO_0013774 trigonocephaly 2 'trigonocephaly 2' SubClassOf 'isolated trigonocephaly' 'trigonocephaly 2' SubClassOf 'isolated trigonocephaly' http://purl.obolibrary.org/obo/MONDO_0037742 endometrioid stromal and related neoplasms 'endometrioid stromal and related neoplasms' SubClassOf 'female reproductive system neoplasm' 'endometrioid stromal and related neoplasms' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0013771 transient infantile hypertriglyceridemia and hepatosteatosis 'transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'genetic disorder' 'transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'liver disease' 'transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'genetic disorder' 'transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0037743 mediastinal soft tissue cancer 'mediastinal soft tissue cancer' SubClassOf 'mediastinal mesenchymal tumor' 'mediastinal soft tissue cancer' SubClassOf 'malignant soft tissue neoplasm' 'mediastinal soft tissue cancer' SubClassOf 'mediastinal cancer' 'mediastinal soft tissue cancer' SubClassOf 'mediastinal mesenchymal tumor' 'mediastinal soft tissue cancer' SubClassOf 'malignant soft tissue neoplasm' 'mediastinal soft tissue cancer' SubClassOf 'mediastinal cancer' http://purl.obolibrary.org/obo/MONDO_0013772 Huppke-Brendel syndrome 'Huppke-Brendel syndrome' SubClassOf 'genetic disorder' 'Huppke-Brendel syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B 'pseudohypoaldosteronism type 2B' SubClassOf 'pseudohypoaldosteronism type 2' 'pseudohypoaldosteronism type 2B' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C 'pseudohypoaldosteronism type 2C' SubClassOf 'pseudohypoaldosteronism type 2' 'pseudohypoaldosteronism type 2C' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0037745 fibromyxoid tumor 'fibromyxoid tumor' SubClassOf 'Soft Tissue Neoplasm' 'fibromyxoid tumor' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0013775 thrombomodulin-related bleeding disorder 'thrombomodulin-related bleeding disorder' SubClassOf 'coagulation protein disease' 'thrombomodulin-related bleeding disorder' SubClassOf 'inherited thrombophilia' 'thrombomodulin-related bleeding disorder' SubClassOf 'coagulation protein disease' 'thrombomodulin-related bleeding disorder' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0037746 malignant vaginal mixed epithelial and mesenchymal neoplasm 'malignant vaginal mixed epithelial and mesenchymal neoplasm' SubClassOf 'vaginal cancer' 'malignant vaginal mixed epithelial and mesenchymal neoplasm' SubClassOf 'Malignant Mixed Neoplasm' 'malignant vaginal mixed epithelial and mesenchymal neoplasm' SubClassOf 'vaginal cancer' 'malignant vaginal mixed epithelial and mesenchymal neoplasm' SubClassOf 'Malignant Mixed Neoplasm' http://purl.obolibrary.org/obo/MONDO_0013776 spastic ataxia 5 'spastic ataxia 5' SubClassOf 'mitochondrial DNA depletion syndrome' 'spastic ataxia 5' SubClassOf 'autosomal recessive spastic ataxia' 'spastic ataxia 5' SubClassOf 'mitochondrial DNA depletion syndrome' 'spastic ataxia 5' SubClassOf 'autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0013770 atrial septal defect 9 'atrial septal defect 9' SubClassOf 'atrial heart septal defect' 'atrial septal defect 9' SubClassOf 'GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes' 'atrial septal defect 9' SubClassOf 'atrial heart septal defect' 'atrial septal defect 9' SubClassOf 'GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes' http://purl.obolibrary.org/obo/MONDO_0037737 peritoneal solitary fibrous tumor 'peritoneal solitary fibrous tumor' SubClassOf 'peritoneal neoplasm' 'peritoneal solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' 'peritoneal solitary fibrous tumor' SubClassOf 'peritoneal neoplasm' 'peritoneal solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' http://purl.obolibrary.org/obo/MONDO_0037738 cauda equina cancer 'cauda equina cancer' SubClassOf 'cauda equina neoplasm' 'cauda equina cancer' SubClassOf 'peripheral nervous system cancer' 'cauda equina cancer' SubClassOf 'cauda equina neoplasm' 'cauda equina cancer' SubClassOf 'peripheral nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0037739 benign neoplasm of cauda equina 'benign neoplasm of cauda equina' SubClassOf 'cauda equina neoplasm' 'benign neoplasm of cauda equina' SubClassOf 'cauda equina neoplasm' http://purl.obolibrary.org/obo/MONDO_0013784 neonatal-onset encephalopathy with rigidity and seizures 'neonatal-onset encephalopathy with rigidity and seizures' SubClassOf 'developmental and epileptic encephalopathy' 'neonatal-onset encephalopathy with rigidity and seizures' SubClassOf 'monogenic epilepsy' 'neonatal-onset encephalopathy with rigidity and seizures' SubClassOf 'developmental and epileptic encephalopathy' 'neonatal-onset encephalopathy with rigidity and seizures' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E 'pseudohypoaldosteronism type 2E' SubClassOf 'pseudohypoaldosteronism type 2' 'pseudohypoaldosteronism type 2E' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0013783 microphthalmia, isolated, with coloboma 7 'microphthalmia, isolated, with coloboma 7' SubClassOf 'microphthalmia, isolated, with coloboma' 'microphthalmia, isolated, with coloboma 7' SubClassOf 'microphthalmia, isolated, with coloboma' http://purl.obolibrary.org/obo/MONDO_0013788 Usher syndrome type 3B 'Usher syndrome type 3B' SubClassOf 'Usher syndrome type 3' 'Usher syndrome type 3B' SubClassOf 'Usher syndrome type 3' http://purl.obolibrary.org/obo/MONDO_0013789 DDOST-congenital disorder of glycosylation 'DDOST-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'DDOST-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'DDOST-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'DDOST-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0037735 sebaceous gland cancer 'sebaceous gland cancer' SubClassOf 'sebaceous gland neoplasm' 'sebaceous gland cancer' SubClassOf 'sebaceous gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0037736 infratentorial neoplasm 'infratentorial neoplasm' SubClassOf 'brain neoplasm' 'infratentorial neoplasm' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D 'pseudohypoaldosteronism type 2D' SubClassOf 'pseudohypoaldosteronism type 2' 'pseudohypoaldosteronism type 2D' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0023122 familial prostate carcinoma 'familial prostate carcinoma' SubClassOf 'prostate carcinoma' 'familial prostate carcinoma' SubClassOf 'prostate carcinoma' http://purl.obolibrary.org/obo/MONDO_0013795 fibrochondrogenesis 2 'fibrochondrogenesis 2' SubClassOf 'fibrochondrogenesis' 'fibrochondrogenesis 2' SubClassOf 'fibrochondrogenesis' http://purl.obolibrary.org/obo/MONDO_0013796 chromosome 17q12 duplication syndrome 'chromosome 17q12 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' 'chromosome 17q12 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0013797 chromosome 17q12 deletion syndrome 'chromosome 17q12 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 17' 'chromosome 17q12 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0013790 mirror movements 2 'mirror movements 2' SubClassOf 'familial congenital mirror movements' 'mirror movements 2' SubClassOf 'familial congenital mirror movements' http://purl.obolibrary.org/obo/MONDO_0023113 familial colorectal cancer 'familial colorectal cancer' SubClassOf 'genetic disorder' 'familial colorectal cancer' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0023119 familial myelofibrosis 'familial myelofibrosis' SubClassOf 'primary myelofibrosis' 'familial myelofibrosis' SubClassOf 'primary myelofibrosis' http://purl.obolibrary.org/obo/MONDO_0023143 fetal enterovirus syndrome 'fetal enterovirus syndrome' SubClassOf 'syndromic disease' 'fetal enterovirus syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0008510 Lyme disease 'Lyme disease' SubClassOf 'primary bacterial infectious disease' 'Lyme disease' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0008518 polymyalgia rheumatica 'polymyalgia rheumatica' SubClassOf 'rheumatic disease' 'polymyalgia rheumatica' SubClassOf 'syndromic disease' 'polymyalgia rheumatica' SubClassOf 'rheumatic disease' 'polymyalgia rheumatica' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0008519 primary hyperparathyroidism 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' http://www.ebi.ac.uk/efo/EFO_0008514 neurofibromatosis 'neurofibromatosis' SubClassOf 'autosomal dominant disease' 'neurofibromatosis' SubClassOf 'hereditary neoplastic syndrome' 'neurofibromatosis' SubClassOf 'neurocutaneous syndrome' 'neurofibromatosis' SubClassOf 'autosomal dominant disease' 'neurofibromatosis' SubClassOf 'hereditary neoplastic syndrome' 'neurofibromatosis' SubClassOf 'neurocutaneous syndrome' http://www.ebi.ac.uk/efo/EFO_0008515 nodular melanoma 'nodular melanoma' SubClassOf 'cutaneous melanoma' 'nodular melanoma' SubClassOf 'cutaneous melanoma' http://www.ebi.ac.uk/efo/EFO_0008516 non-functioning pituitary adenoma 'non-functioning pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' 'non-functioning pituitary adenoma' SubClassOf 'non-functioning pituitary gland neoplasm' 'non-functioning pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' 'non-functioning pituitary adenoma' SubClassOf 'non-functioning pituitary gland neoplasm' http://www.ebi.ac.uk/efo/EFO_0008506 hyperparathyroidism 'hyperparathyroidism' SubClassOf 'parathyroid disease' 'hyperparathyroidism' SubClassOf 'disease has major feature' some 'Hyperparathyroidism' 'hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperparathyroidism' 'hyperparathyroidism' SubClassOf 'parathyroid disease' http://www.ebi.ac.uk/efo/EFO_0008507 interstitial cystitis 'interstitial cystitis' SubClassOf 'chronic cystitis' 'interstitial cystitis' SubClassOf 'connective tissue disease' 'interstitial cystitis' SubClassOf 'chronic cystitis' 'interstitial cystitis' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_0008508 large cell medulloblastoma 'large cell medulloblastoma' SubClassOf 'medulloblastoma' 'large cell medulloblastoma' SubClassOf 'medulloblastoma' http://www.ebi.ac.uk/efo/EFO_0008509 lobular breast carcinoma 'lobular breast carcinoma' SubClassOf 'breast adenocarcinoma' 'lobular breast carcinoma' SubClassOf 'breast adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0013597 platelet-type bleeding disorder 14 'platelet-type bleeding disorder 14' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 14' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0013598 myostatin-related muscle hypertrophy 'myostatin-related muscle hypertrophy' SubClassOf 'genetic disorder' 'myostatin-related muscle hypertrophy' SubClassOf 'muscle tissue disorder' 'myostatin-related muscle hypertrophy' SubClassOf 'genetic disorder' 'myostatin-related muscle hypertrophy' SubClassOf 'muscle tissue disorder' http://purl.obolibrary.org/obo/MONDO_0013595 hyperbiliverdinemia 'hyperbiliverdinemia' SubClassOf 'liver disease' 'hyperbiliverdinemia' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'autoimmune enteropathy' 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'polyendocrinopathy' 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'autoimmune enteropathy' 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'polyendocrinopathy' http://purl.obolibrary.org/obo/MONDO_0013594 spinocerebellar ataxia type 36 'spinocerebellar ataxia type 36' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 36' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0013591 epiphyseal dysplasia, multiple, 6 'epiphyseal dysplasia, multiple, 6' SubClassOf 'multiple epiphyseal dysplasia due to collagen 9 anomaly' 'epiphyseal dysplasia, multiple, 6' SubClassOf 'multiple epiphyseal dysplasia due to collagen 9 anomaly' http://purl.obolibrary.org/obo/MONDO_0859393 Atelis syndrome 'Atelis syndrome' SubClassOf 'genetic disorder' 'Atelis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859390 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features 'epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features' SubClassOf 'monogenic epilepsy' 'epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0859382 cataract 50 with or without glaucoma 'cataract 50 with or without glaucoma' SubClassOf 'cataract' 'cataract 50 with or without glaucoma' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0859383 ichthyosis hystrix 'ichthyosis hystrix' SubClassOf 'inherited ichthyosis' 'ichthyosis hystrix' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0859375 developmental delay with hypotonia, myopathy, and brain abnormalities 'developmental delay with hypotonia, myopathy, and brain abnormalities' SubClassOf 'genetic disorder' 'developmental delay with hypotonia, myopathy, and brain abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859376 hydrocephalus, congenital, 5, susceptibility to 'hydrocephalus, congenital, 5, susceptibility to' SubClassOf 'inherited disease susceptibility' 'hydrocephalus, congenital, 5, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0859370 respiratory infections, recurrent, and failure to thrive with or without diarrhea 'respiratory infections, recurrent, and failure to thrive with or without diarrhea' SubClassOf 'genetic disorder' 'respiratory infections, recurrent, and failure to thrive with or without diarrhea' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859371 rhabdomyolysis, susceptibility to, 1 'rhabdomyolysis, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'rhabdomyolysis, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0859372 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies 'cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies' SubClassOf 'familial hypertrophic cardiomyopathy' 'cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0859369 joint contractures, osteochondromas, and B-cell lymphoma 'joint contractures, osteochondromas, and B-cell lymphoma' SubClassOf 'genetic disorder' 'joint contractures, osteochondromas, and B-cell lymphoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859361 neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia 'neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses 'inflammatory poikiloderma with hair abnormalities and acral keratoses' SubClassOf 'hereditary poikiloderma' 'inflammatory poikiloderma with hair abnormalities and acral keratoses' SubClassOf 'hereditary poikiloderma' http://purl.obolibrary.org/obo/MONDO_0859357 congenital disorder of glycosylation, type IIz 'congenital disorder of glycosylation, type IIz' SubClassOf 'congenital disorder of glycosylation type II' 'congenital disorder of glycosylation, type IIz' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0859358 cardiomyopathy, dilated, 2H 'cardiomyopathy, dilated, 2H' SubClassOf 'familial dilated cardiomyopathy' 'cardiomyopathy, dilated, 2H' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0859353 ciliary dyskinesia, primary, 49, without situs inversus 'ciliary dyskinesia, primary, 49, without situs inversus' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 49, without situs inversus' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0859354 thyroid hormone metabolism, abnormal, 3 'thyroid hormone metabolism, abnormal, 3' SubClassOf 'thyroid hormone metabolism, abnormal' 'thyroid hormone metabolism, abnormal, 3' SubClassOf 'thyroid hormone metabolism, abnormal' http://www.ebi.ac.uk/efo/EFO_0008474 spine bone mineral density change measurement 'spine bone mineral density change measurement' SubClassOf 'is_about' some 'bone element' 'spine bone mineral density change measurement' SubClassOf 'spine bone mineral density' 'spine bone mineral density change measurement' SubClassOf 'is_about' some 'bone element' 'spine bone mineral density change measurement' SubClassOf 'spine bone mineral density' http://purl.obolibrary.org/obo/MONDO_0859350 neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies 'neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 'branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome' SubClassOf 'genetic disorder' 'branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 'mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition' SubClassOf 'mosaic variegated aneuploidy syndrome' 'mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition' SubClassOf 'mosaic variegated aneuploidy syndrome' http://purl.obolibrary.org/obo/MONDO_0859336 muscular dystrophy, congenital, with or without seizures 'muscular dystrophy, congenital, with or without seizures' SubClassOf 'genetic disorder' 'muscular dystrophy, congenital, with or without seizures' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0008498 clear cell sarcoma 'clear cell sarcoma' SubClassOf 'soft tissue sarcoma' 'clear cell sarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0008495 childhood supratentorial ependymoma 'childhood supratentorial ependymoma' SubClassOf 'supratentorial ependymal tumor' 'childhood supratentorial ependymoma' SubClassOf 'childhood ependymoma' 'childhood supratentorial ependymoma' SubClassOf 'supratentorial ependymal tumor' 'childhood supratentorial ependymoma' SubClassOf 'childhood ependymoma' http://purl.obolibrary.org/obo/MONDO_0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy 'hypomagnesemia 7, renal, with or without dilated cardiomyopathy' SubClassOf 'familial primary hypomagnesemia' 'hypomagnesemia 7, renal, with or without dilated cardiomyopathy' SubClassOf 'familial primary hypomagnesemia' http://purl.obolibrary.org/obo/MONDO_0859322 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 'myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis' SubClassOf 'genetic disorder' 'myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859324 developmental delay, language impairment, and ocular abnormalities 'developmental delay, language impairment, and ocular abnormalities' SubClassOf 'genetic disorder' 'developmental delay, language impairment, and ocular abnormalities' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0008490 ampulla of Vater adenocarcinoma 'ampulla of Vater adenocarcinoma' SubClassOf 'Duodenal Adenocarcinoma' 'ampulla of Vater adenocarcinoma' SubClassOf 'Ampulla of Vater Carcinoma' 'ampulla of Vater adenocarcinoma' SubClassOf 'Duodenal Adenocarcinoma' 'ampulla of Vater adenocarcinoma' SubClassOf 'Ampulla of Vater Carcinoma' http://purl.obolibrary.org/obo/MONDO_0859316 iron overload, susceptibility to 'iron overload, susceptibility to' SubClassOf 'inherited disease susceptibility' 'iron overload, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0859311 Charcot-Marie-Tooth disease, demyelinating, type 1J 'Charcot-Marie-Tooth disease, demyelinating, type 1J' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease, demyelinating, type 1J' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0859312 neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities 'neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859304 neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction 'neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction' SubClassOf 'neurodegenerative disease' 'neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia 'neurodevelopmental disorder with eye movement abnormalities and ataxia' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder with eye movement abnormalities and ataxia' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859306 developmental delay with variable intellectual disability and dysmorphic facies 'developmental delay with variable intellectual disability and dysmorphic facies' SubClassOf 'genetic disorder' 'developmental delay with variable intellectual disability and dysmorphic facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 'neuronopathy, distal hereditary motor, autosomal dominant 10' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'neuronopathy, distal hereditary motor, autosomal dominant 10' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0859302 hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 'hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2' SubClassOf 'genetic disorder' 'hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013606 Hermansky-Pudlak syndrome 9 'Hermansky-Pudlak syndrome 9' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome 9' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0013607 monocytopenia with susceptibility to infections 'monocytopenia with susceptibility to infections' SubClassOf 'GATA2 deficiency with susceptibility to MDS/AML' 'monocytopenia with susceptibility to infections' SubClassOf 'GATA2 deficiency with susceptibility to MDS/AML' http://purl.obolibrary.org/obo/MONDO_0013602 paragangliomas 5 'paragangliomas 5' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'paragangliomas 5' SubClassOf 'Malignant Urinary System Neoplasm' 'paragangliomas 5' SubClassOf 'Paraganglioma' 'paragangliomas 5' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'paragangliomas 5' SubClassOf 'Malignant Urinary System Neoplasm' 'paragangliomas 5' SubClassOf 'Paraganglioma' http://purl.obolibrary.org/obo/MONDO_0013616 pigmented nodular adrenocortical disease, primary, 3 'pigmented nodular adrenocortical disease, primary, 3' SubClassOf 'primary pigmented nodular adrenocortical disease' 'pigmented nodular adrenocortical disease, primary, 3' SubClassOf 'primary pigmented nodular adrenocortical disease' http://purl.obolibrary.org/obo/MONDO_0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome 'hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'genetic disorder' 'hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013615 craniosynostosis and dental anomalies 'craniosynostosis and dental anomalies' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis and dental anomalies' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0013618 craniofacial anomalies and anterior segment dysgenesis syndrome 'craniofacial anomalies and anterior segment dysgenesis syndrome' SubClassOf 'genetic disorder' 'craniofacial anomalies and anterior segment dysgenesis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013612 geleophysic dysplasia 2 'geleophysic dysplasia 2' SubClassOf 'geleophysic dysplasia' 'geleophysic dysplasia 2' SubClassOf 'geleophysic dysplasia' http://purl.obolibrary.org/obo/MONDO_0013613 Leber congenital amaurosis 16 'Leber congenital amaurosis 16' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 16' SubClassOf 'Leber congenital amaurosis' http://purl.obolibrary.org/obo/MONDO_0013626 psoriasis 14, pustular 'psoriasis 14, pustular' SubClassOf 'autoinflammatory syndrome' 'psoriasis 14, pustular' SubClassOf 'psoriasis' 'psoriasis 14, pustular' SubClassOf 'epidermal disease' 'psoriasis 14, pustular' SubClassOf 'autoinflammatory syndrome' 'psoriasis 14, pustular' SubClassOf 'psoriasis' 'psoriasis 14, pustular' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0013620 congenital myasthenic syndrome 16 'congenital myasthenic syndrome 16' SubClassOf 'postsynaptic congenital myasthenic syndrome' 'congenital myasthenic syndrome 16' SubClassOf 'SCN4A-related myopathy, autosomal recessive' 'congenital myasthenic syndrome 16' SubClassOf 'postsynaptic congenital myasthenic syndrome' 'congenital myasthenic syndrome 16' SubClassOf 'SCN4A-related myopathy, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0013623 platelet-type bleeding disorder 11 'platelet-type bleeding disorder 11' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 11' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0013624 Rafiq syndrome 'Rafiq syndrome' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'Rafiq syndrome' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0013622 platelet-type bleeding disorder 9 'platelet-type bleeding disorder 9' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 9' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0013634 neuropathy, hereditary sensory, type 2C 'neuropathy, hereditary sensory, type 2C' SubClassOf 'KIF1A related neurological disorder' 'neuropathy, hereditary sensory, type 2C' SubClassOf 'hereditary sensory and autonomic neuropathy type 2' 'neuropathy, hereditary sensory, type 2C' SubClassOf 'KIF1A related neurological disorder' 'neuropathy, hereditary sensory, type 2C' SubClassOf 'hereditary sensory and autonomic neuropathy type 2' http://purl.obolibrary.org/obo/MONDO_0013633 encephalopathy, acute, infection-induced, susceptibility to, 4 'encephalopathy, acute, infection-induced, susceptibility to, 4' SubClassOf 'encephalitis, acute, infection-induced, susceptibility to' 'encephalopathy, acute, infection-induced, susceptibility to, 4' SubClassOf 'encephalitis, acute, infection-induced, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0013648 familial progressive hyperpigmentation 'familial progressive hyperpigmentation' SubClassOf 'hyperpigmentation of the skin' 'familial progressive hyperpigmentation' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0013640 familial retinal arterial macroaneurysm 'familial retinal arterial macroaneurysm' SubClassOf 'retinal vascular disorder' 'familial retinal arterial macroaneurysm' SubClassOf 'retinal vascular disorder' http://purl.obolibrary.org/obo/MONDO_0013645 autosomal recessive spinocerebellar ataxia 11 'autosomal recessive spinocerebellar ataxia 11' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 11' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0013646 chromosome 8q21.11 deletion syndrome 'chromosome 8q21.11 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile type 3 'hyperuricemic nephropathy, familial juvenile type 3' SubClassOf 'familial juvenile hyperuricemic nephropathy' 'hyperuricemic nephropathy, familial juvenile type 3' SubClassOf 'familial juvenile hyperuricemic nephropathy' http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O 'Charcot-Marie-Tooth disease axonal type 2O' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2O' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0013659 microcephaly-capillary malformation syndrome 'microcephaly-capillary malformation syndrome' SubClassOf 'syndromic disease' 'microcephaly-capillary malformation syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013656 intellectual disability, autosomal dominant 9 'intellectual disability, autosomal dominant 9' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 9' SubClassOf 'KIF1A related neurological disorder' 'intellectual disability, autosomal dominant 9' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 9' SubClassOf 'KIF1A related neurological disorder' http://purl.obolibrary.org/obo/MONDO_0013657 intellectual disability, autosomal dominant 10 'intellectual disability, autosomal dominant 10' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 10' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0013655 intellectual disability, autosomal dominant 8 'intellectual disability, autosomal dominant 8' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 8' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia 'combined malonic and methylmalonic acidemia' SubClassOf 'classic organic aciduria' 'combined malonic and methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' 'combined malonic and methylmalonic acidemia' SubClassOf 'classic organic aciduria' 'combined malonic and methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0013668 tetrasomy 18p 'tetrasomy 18p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 18' 'tetrasomy 18p' SubClassOf 'genetic disorder' 'tetrasomy 18p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 18' 'tetrasomy 18p' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013660 arthrogryposis, Perthes disease, and upward gaze palsy 'arthrogryposis, Perthes disease, and upward gaze palsy' SubClassOf 'genetic disorder' 'arthrogryposis, Perthes disease, and upward gaze palsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013674 neurodegeneration with brain iron accumulation 4 'neurodegeneration with brain iron accumulation 4' SubClassOf 'neurodegeneration with brain iron accumulation' 'neurodegeneration with brain iron accumulation 4' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0013675 multiple mitochondrial dysfunctions syndrome 2 'multiple mitochondrial dysfunctions syndrome 2' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 2' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0013678 EDICT syndrome 'EDICT syndrome' SubClassOf 'syndromic disease' 'EDICT syndrome' SubClassOf 'genetic disorder' 'EDICT syndrome' SubClassOf 'syndromic disease' 'EDICT syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013679 sclerosteosis 2 'sclerosteosis 2' SubClassOf 'sclerosteosis' 'sclerosteosis 2' SubClassOf 'sclerosteosis' http://purl.obolibrary.org/obo/MONDO_0013677 Emery-Dreifuss muscular dystrophy 7, autosomal dominant 'Emery-Dreifuss muscular dystrophy 7, autosomal dominant' SubClassOf 'autosomal dominant Emery-Dreifuss muscular dystrophy' 'Emery-Dreifuss muscular dystrophy 7, autosomal dominant' SubClassOf 'autosomal dominant Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0013685 pancreatic cancer, susceptibility to, 4 'pancreatic cancer, susceptibility to, 4' SubClassOf 'BRCA1-related cancer predisposition' 'pancreatic cancer, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Malignant Pancreatic Neoplasm' 'pancreatic cancer, susceptibility to, 4' SubClassOf 'BRCA1-related cancer predisposition' 'pancreatic cancer, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Malignant Pancreatic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0013687 autosomal recessive spinocerebellar ataxia 12 'autosomal recessive spinocerebellar ataxia 12' SubClassOf 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' 'autosomal recessive spinocerebellar ataxia 12' SubClassOf 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0013688 linear and whorled nevoid hypermelanosis 'linear and whorled nevoid hypermelanosis' SubClassOf 'hyperpigmentation of the skin' 'linear and whorled nevoid hypermelanosis' SubClassOf 'hamartoma' 'linear and whorled nevoid hypermelanosis' SubClassOf 'hyperpigmentation of the skin' 'linear and whorled nevoid hypermelanosis' SubClassOf 'hamartoma' http://purl.obolibrary.org/obo/MONDO_0013680 cognitive impairment with or without cerebellar ataxia 'cognitive impairment with or without cerebellar ataxia' SubClassOf 'genetic disorder' 'cognitive impairment with or without cerebellar ataxia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013696 chromosome 2p16.3 deletion syndrome 'chromosome 2p16.3 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' 'chromosome 2p16.3 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0013692 BAP1-related tumor predisposition syndrome 'BAP1-related tumor predisposition syndrome' SubClassOf 'hereditary neoplastic syndrome' 'BAP1-related tumor predisposition syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0013690 Pitt-Hopkins-like syndrome 2 'Pitt-Hopkins-like syndrome 2' SubClassOf 'Pitt-Hopkins-like syndrome' 'Pitt-Hopkins-like syndrome 2' SubClassOf 'Pitt-Hopkins-like syndrome' http://purl.obolibrary.org/obo/MONDO_0013691 Feingold syndrome type 2 'Feingold syndrome type 2' SubClassOf 'Feingold syndrome' 'Feingold syndrome type 2' SubClassOf 'Feingold syndrome' http://purl.obolibrary.org/obo/MONDO_0013476 hypertrophic cardiomyopathy 19 'hypertrophic cardiomyopathy 19' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 19' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013477 hypertrophic cardiomyopathy 20 'hypertrophic cardiomyopathy 20' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 20' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013474 hypertrophic cardiomyopathy 17 'hypertrophic cardiomyopathy 17' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 17' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013478 PLIN1-related familial partial lipodystrophy 'PLIN1-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'PLIN1-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0013479 dilated cardiomyopathy 1HH 'dilated cardiomyopathy 1HH' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1HH' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013472 fatal infantile hypertonic myofibrillar myopathy 'fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'myofibrillar myopathy' 'fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0013470 generalized epilepsy with febrile seizures plus, type 7 'generalized epilepsy with febrile seizures plus, type 7' SubClassOf 'generalized epilepsy with febrile seizures plus' 'generalized epilepsy with febrile seizures plus, type 7' SubClassOf 'generalized epilepsy with febrile seizures plus' http://purl.obolibrary.org/obo/MONDO_0013487 recurrent Neisseria infections due to factor D deficiency 'recurrent Neisseria infections due to factor D deficiency' SubClassOf 'complement deficiency' 'recurrent Neisseria infections due to factor D deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0013485 spinocerebellar ataxia type 35 'spinocerebellar ataxia type 35' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 35' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0013486 spinocerebellar ataxia type 32 'spinocerebellar ataxia type 32' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 32' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0013489 autosomal recessive nonsyndromic hearing loss 89 'autosomal recessive nonsyndromic hearing loss 89' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 89' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0013483 obesity, hyperphagia, and developmental delay 'obesity, hyperphagia, and developmental delay' SubClassOf 'genetic disorder' 'obesity, hyperphagia, and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013481 chromosome 13q14 deletion syndrome 'chromosome 13q14 deletion syndrome' SubClassOf 'syndromic disease' 'chromosome 13q14 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 13' 'chromosome 13q14 deletion syndrome' SubClassOf 'syndromic disease' 'chromosome 13q14 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 13' http://purl.obolibrary.org/obo/MONDO_0013498 schizophrenia 15 'schizophrenia 15' SubClassOf 'schizophrenia' 'schizophrenia 15' SubClassOf 'schizophrenia' http://purl.obolibrary.org/obo/MONDO_0013499 Fanconi anemia complementation group P 'Fanconi anemia complementation group P' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group P' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0013497 Okt4 epitope deficiency 'Okt4 epitope deficiency' SubClassOf 'genetic disorder' 'Okt4 epitope deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/GO_0019637 organophosphate metabolic process 'organophosphate metabolic process' SubClassOf 'organic substance metabolic process' http://purl.obolibrary.org/obo/MONDO_0013504 spermatogenic failure 8 'spermatogenic failure 8' SubClassOf 'azoospermia' 'spermatogenic failure 8' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 'frontotemporal dementia and/or amyotrophic lateral sclerosis 6' SubClassOf 'frontotemporal dementia with motor neuron disease' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 6' SubClassOf 'frontotemporal dementia and/or amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 6' SubClassOf 'familial amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 6' SubClassOf 'frontotemporal dementia with motor neuron disease' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 6' SubClassOf 'frontotemporal dementia and/or amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 6' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0013517 beta-thalassemia HBB/LCRB 'beta-thalassemia HBB/LCRB' SubClassOf 'beta thalassemia' 'beta-thalassemia HBB/LCRB' SubClassOf 'beta thalassemia' http://purl.obolibrary.org/obo/MONDO_0013518 pituitary hormone deficiency, combined, 6 'pituitary hormone deficiency, combined, 6' SubClassOf 'combined pituitary hormone deficiencies, genetic form' 'pituitary hormone deficiency, combined, 6' SubClassOf 'combined pituitary hormone deficiencies, genetic form' http://purl.obolibrary.org/obo/MONDO_0013513 atrial fibrillation, familial, 9 'atrial fibrillation, familial, 9' SubClassOf 'familial atrial fibrillation' 'atrial fibrillation, familial, 9' SubClassOf 'familial atrial fibrillation' http://purl.obolibrary.org/obo/MONDO_0013514 hypotrichosis 3 'hypotrichosis 3' SubClassOf 'hypotrichosis' 'hypotrichosis 3' SubClassOf 'hypotrichosis simplex of the scalp' 'hypotrichosis 3' SubClassOf 'hypotrichosis' 'hypotrichosis 3' SubClassOf 'hypotrichosis simplex of the scalp' http://purl.obolibrary.org/obo/MONDO_0013511 cyanosis, transient neonatal 'cyanosis, transient neonatal' SubClassOf 'genetic disorder' 'cyanosis, transient neonatal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013512 hemoglobin H disease 'hemoglobin H disease' SubClassOf 'digenic alpha thalassemia spectrum' 'hemoglobin H disease' SubClassOf 'digenic alpha thalassemia spectrum' http://purl.obolibrary.org/obo/MONDO_0013526 progressive myoclonic epilepsy type 6 'progressive myoclonic epilepsy type 6' SubClassOf 'progressive myoclonus epilepsy' 'progressive myoclonic epilepsy type 6' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0013527 lissencephaly 4 'lissencephaly 4' SubClassOf 'microcephaly with lissencephaly and/or hydranencephaly' 'lissencephaly 4' SubClassOf 'microlissencephaly' 'lissencephaly 4' SubClassOf 'microlissencephaly' 'lissencephaly 4' SubClassOf 'microcephaly with lissencephaly and/or hydranencephaly' http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 'dyskeratosis congenita, autosomal dominant 2' SubClassOf 'dyskeratosis congenita' 'dyskeratosis congenita, autosomal dominant 2' SubClassOf 'dyskeratosis congenita' http://purl.obolibrary.org/obo/MONDO_0013522 dyskeratosis congenita, autosomal dominant 3 'dyskeratosis congenita, autosomal dominant 3' SubClassOf 'dyskeratosis congenita' 'dyskeratosis congenita, autosomal dominant 3' SubClassOf 'dyskeratosis congenita' http://purl.obolibrary.org/obo/MONDO_0013523 Nestor-Guillermo progeria syndrome 'Nestor-Guillermo progeria syndrome' SubClassOf 'primary osteolysis' 'Nestor-Guillermo progeria syndrome' SubClassOf 'progeria' 'Nestor-Guillermo progeria syndrome' SubClassOf 'primary osteolysis' 'Nestor-Guillermo progeria syndrome' SubClassOf 'progeria' http://purl.obolibrary.org/obo/MONDO_0013539 hypotonia-failure to thrive-microcephaly syndrome 'hypotonia-failure to thrive-microcephaly syndrome' SubClassOf 'inborn errors of metabolism' 'hypotonia-failure to thrive-microcephaly syndrome' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0013531 PSPH deficiency 'PSPH deficiency' SubClassOf 'neurometabolic disorder due to serine deficiency' 'PSPH deficiency' SubClassOf 'neurometabolic disorder due to serine deficiency' http://purl.obolibrary.org/obo/MONDO_0013532 protein Z deficiency 'protein Z deficiency' SubClassOf 'genetic disorder' 'protein Z deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013530 atrial fibrillation, familial, 10 'atrial fibrillation, familial, 10' SubClassOf 'familial atrial fibrillation' 'atrial fibrillation, familial, 10' SubClassOf 'familial atrial fibrillation' http://purl.obolibrary.org/obo/MONDO_0013536 heme oxygenase 1 deficiency 'heme oxygenase 1 deficiency' SubClassOf 'inborn disorder of porphyrin metabolism' 'heme oxygenase 1 deficiency' SubClassOf 'inborn disorder of porphyrin metabolism' http://purl.obolibrary.org/obo/MONDO_0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency 'hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'hyperalphalipoproteinemia' 'hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'hyperalphalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0013534 apolipoprotein c-III deficiency 'apolipoprotein c-III deficiency' SubClassOf 'inborn errors of metabolism' 'apolipoprotein c-III deficiency' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0013548 acetyl-CoA acetyltransferase-2 deficiency 'acetyl-CoA acetyltransferase-2 deficiency' SubClassOf 'genetic disorder' 'acetyl-CoA acetyltransferase-2 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013549 N-acetylaspartate deficiency 'N-acetylaspartate deficiency' SubClassOf 'genetic disorder' 'N-acetylaspartate deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013542 Moyamoya disease 5 'Moyamoya disease 5' SubClassOf 'Moyamoya disease' 'Moyamoya disease 5' SubClassOf 'Moyamoya disease' http://purl.obolibrary.org/obo/MONDO_0013543 trypsinogen deficiency 'trypsinogen deficiency' SubClassOf 'genetic disorder' 'trypsinogen deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013540 deafness-lymphedema-leukemia syndrome 'deafness-lymphedema-leukemia syndrome' SubClassOf 'hematologic disease' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'GATA2 deficiency with susceptibility to MDS/AML' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'syndromic disease' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'hematologic disease' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'GATA2 deficiency with susceptibility to MDS/AML' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013541 complex cortical dysplasia with other brain malformations 1 'complex cortical dysplasia with other brain malformations 1' SubClassOf 'complex cortical dysplasia with other brain malformations' 'complex cortical dysplasia with other brain malformations 1' SubClassOf 'complex cortical dysplasia with other brain malformations' http://purl.obolibrary.org/obo/MONDO_0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 'mitochondrial complex V (ATP synthase) deficiency nuclear type 2' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency nuclear type 2' SubClassOf 'mitochondrial complex deficiency' http://purl.obolibrary.org/obo/MONDO_0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 'mitochondrial complex V (ATP synthase) deficiency nuclear type 3' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency nuclear type 3' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency nuclear type 3' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency nuclear type 3' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0013545 atrial fibrillation, familial, 12 'atrial fibrillation, familial, 12' SubClassOf 'familial atrial fibrillation' 'atrial fibrillation, familial, 12' SubClassOf 'familial atrial fibrillation' http://purl.obolibrary.org/obo/MONDO_0013559 Hermansky-Pudlak syndrome 7 'Hermansky-Pudlak syndrome 7' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome 7' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0013555 Hermansky-Pudlak syndrome 3 'Hermansky-Pudlak syndrome 3' SubClassOf 'Hermansky-Pudlak syndrome without pulmonary fibrosis' 'Hermansky-Pudlak syndrome 3' SubClassOf 'Hermansky-Pudlak syndrome without pulmonary fibrosis' http://purl.obolibrary.org/obo/MONDO_0013550 distal myopathy with posterior leg and anterior hand involvement 'distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'autosomal dominant distal myopathy' 'distal myopathy with posterior leg and anterior hand involvement' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0013564 anhaptoglobinemia 'anhaptoglobinemia' SubClassOf 'genetic disorder' 'anhaptoglobinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013562 aspergillosis, susceptibility to 'aspergillosis, susceptibility to' SubClassOf 'predisposes towards' some 'aspergillosis' 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'aspergillosis') 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'aspergillosis') 'aspergillosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'aspergillosis' http://purl.obolibrary.org/obo/MONDO_0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://purl.obolibrary.org/obo/MONDO_0013568 sick sinus syndrome 3, susceptibility to 'sick sinus syndrome 3, susceptibility to' SubClassOf 'predisposes towards' some 'sick sinus syndrome' 'sick sinus syndrome 3, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'sick sinus syndrome' http://purl.obolibrary.org/obo/MONDO_0013566 Fanconi anemia complementation group L 'Fanconi anemia complementation group L' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group L' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0013567 atrial septal defect 3 'atrial septal defect 3' SubClassOf 'atrial heart septal defect' 'atrial septal defect 3' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0013560 Hermansky-Pudlak syndrome 8 'Hermansky-Pudlak syndrome 8' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome 8' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0013561 chondrodysplasia with joint dislocations, gPAPP type 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'musculoskeletal system disease' 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'mineral metabolism disease' 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'musculoskeletal system disease' 'chondrodysplasia with joint dislocations, gPAPP type' SubClassOf 'mineral metabolism disease' http://purl.obolibrary.org/obo/MONDO_0013575 plasma fibronectin deficiency 'plasma fibronectin deficiency' SubClassOf 'genetic disorder' 'plasma fibronectin deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency 'recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'inborn error of immunity' 'recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0013574 cutis laxa - Marfanoid syndrome 'cutis laxa - Marfanoid syndrome' SubClassOf 'developmental defect during embryogenesis' 'cutis laxa - Marfanoid syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0013579 methylmalonate semialdehyde dehydrogenase deficiency 'methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'inborn organic aciduria' 'methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' 'methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'inborn organic aciduria' 'methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0013577 Lipedema 'Lipedema' SubClassOf 'subcutaneous tissue disorder' 'Lipedema' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome 'DYRK1A-related intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013572 Keppen-Lubinsky syndrome 'Keppen-Lubinsky syndrome' SubClassOf 'hereditary lipodystrophy' 'Keppen-Lubinsky syndrome' SubClassOf 'hereditary lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0013570 combined oxidative phosphorylation defect type 8 'combined oxidative phosphorylation defect type 8' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 8' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 'glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'glycogen storage disease due to lactate dehydrogenase deficiency' 'glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'disorder of glycolysis' 'glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'glycogen storage disease due to lactate dehydrogenase deficiency' 'glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0013584 hereditary sensory neuropathy-deafness-dementia syndrome 'hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf 'sleep-wake disorder' 'hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' 'hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf 'inherited neurodegenerative disorder' 'hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf 'hereditary dementia' 'hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' 'hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf 'sleep-wake disorder' 'hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf 'inherited neurodegenerative disorder' 'hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf 'hereditary dementia' http://purl.obolibrary.org/obo/MONDO_0013585 hydrolethalus syndrome 2 'hydrolethalus syndrome 2' SubClassOf 'hydrolethalus syndrome' 'hydrolethalus syndrome 2' SubClassOf 'KIF7-related ciliopathy' 'hydrolethalus syndrome 2' SubClassOf 'hydrolethalus syndrome' 'hydrolethalus syndrome 2' SubClassOf 'KIF7-related ciliopathy' http://purl.obolibrary.org/obo/MONDO_0013583 occipital pachygyria and polymicrogyria 'occipital pachygyria and polymicrogyria' SubClassOf 'brain disease' 'occipital pachygyria and polymicrogyria' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0013580 pyruvate dehydrogenase E1-beta deficiency 'pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'pyruvate dehydrogenase E1-beta deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0013581 intellectual disability, autosomal dominant 2 'intellectual disability, autosomal dominant 2' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 2' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0013355 congenital dyserythropoietic anemia type 4 'congenital dyserythropoietic anemia type 4' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 4' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0013354 spastic ataxia 4 'spastic ataxia 4' SubClassOf 'autosomal recessive spastic ataxia' 'spastic ataxia 4' SubClassOf 'autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0013359 familial hyperaldosteronism type III 'familial hyperaldosteronism type III' SubClassOf 'familial hyperaldosteronism' 'familial hyperaldosteronism type III' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0013357 chromosome 17q11.2 deletion syndrome, 1.4Mb 'chromosome 17q11.2 deletion syndrome, 1.4Mb' SubClassOf 'neurofibromatosis type 1' 'chromosome 17q11.2 deletion syndrome, 1.4Mb' SubClassOf 'partial deletion of the long arm of chromosome 17' 'chromosome 17q11.2 deletion syndrome, 1.4Mb' SubClassOf 'neurofibromatosis type 1' 'chromosome 17q11.2 deletion syndrome, 1.4Mb' SubClassOf 'partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 'infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'central nervous system disease' 'infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013364 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'Rubinstein-Taybi syndrome' 'Rubinstein-Taybi syndrome due to EP300 haploinsufficiency' SubClassOf 'Rubinstein-Taybi syndrome' http://purl.obolibrary.org/obo/MONDO_0013368 mammary-digital-nail syndrome 'mammary-digital-nail syndrome' SubClassOf 'genetic disorder' 'mammary-digital-nail syndrome' SubClassOf 'female reproductive system disease' 'mammary-digital-nail syndrome' SubClassOf 'genetic disorder' 'mammary-digital-nail syndrome' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0013369 hypertrophic cardiomyopathy 7 'hypertrophic cardiomyopathy 7' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 7' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013363 chromosome 2q31.1 duplication syndrome 'chromosome 2q31.1 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 2' 'chromosome 2q31.1 duplication syndrome' SubClassOf 'mesomelic dysplasia, Kantaputra type' 'chromosome 2q31.1 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 2' 'chromosome 2q31.1 duplication syndrome' SubClassOf 'mesomelic dysplasia, Kantaputra type' http://purl.obolibrary.org/obo/MONDO_0013360 brachyolmia, Maroteaux type 'brachyolmia, Maroteaux type' SubClassOf 'brachyolmia' 'brachyolmia, Maroteaux type' SubClassOf 'brachyolmia' http://purl.obolibrary.org/obo/MONDO_0013361 congenital prothrombin deficiency 'congenital prothrombin deficiency' SubClassOf 'autosomal recessive disease' 'congenital prothrombin deficiency' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' 'congenital prothrombin deficiency' SubClassOf 'autosomal recessive disease' 'congenital prothrombin deficiency' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/MONDO_0013377 isolated microphthalmia 7 'isolated microphthalmia 7' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' 'isolated microphthalmia 7' SubClassOf 'isolated microphthalmia' 'isolated microphthalmia 7' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' 'isolated microphthalmia 7' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0013378 orofacial cleft 10 'orofacial cleft 10' SubClassOf 'cleft lip/palate' 'orofacial cleft 10' SubClassOf 'cleft lip/palate' http://purl.obolibrary.org/obo/MONDO_0013375 Klippel-Feil syndrome 3, autosomal dominant 'Klippel-Feil syndrome 3, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' 'Klippel-Feil syndrome 3, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0013373 dilated cardiomyopathy 1V 'dilated cardiomyopathy 1V' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1V' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013371 dilated cardiomyopathy 1U 'dilated cardiomyopathy 1U' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1U' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013372 long QT syndrome 5 'long QT syndrome 5' SubClassOf 'familial long QT syndrome' 'long QT syndrome 5' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0013389 developmental and epileptic encephalopathy, 12 'developmental and epileptic encephalopathy, 12' SubClassOf 'malignant migrating partial seizures of infancy' 'developmental and epileptic encephalopathy, 12' SubClassOf 'West syndrome' 'developmental and epileptic encephalopathy, 12' SubClassOf 'malignant migrating partial seizures of infancy' 'developmental and epileptic encephalopathy, 12' SubClassOf 'West syndrome' http://purl.obolibrary.org/obo/MONDO_0013382 progressive demyelinating neuropathy with bilateral striatal necrosis 'progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'thiamine-responsive dysfunction syndrome' 'progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'hereditary peripheral neuropathy' 'progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'thiamine-responsive dysfunction syndrome' 'progressive demyelinating neuropathy with bilateral striatal necrosis' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0013398 acne inversa, familial, 3 'acne inversa, familial, 3' SubClassOf 'familial acne inversa' 'acne inversa, familial, 3' SubClassOf 'familial acne inversa' http://purl.obolibrary.org/obo/MONDO_0013391 sterol carrier protein 2 deficiency 'sterol carrier protein 2 deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' 'sterol carrier protein 2 deficiency' SubClassOf 'leukodystrophy' 'sterol carrier protein 2 deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' 'sterol carrier protein 2 deficiency' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0013392 autosomal recessive spinocerebellar ataxia 10 'autosomal recessive spinocerebellar ataxia 10' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 10' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0013390 autosomal recessive limb-girdle muscular dystrophy type 2Q 'autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'qualitative or quantitative defects of plectin' 'autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2Q' SubClassOf 'qualitative or quantitative defects of plectin' http://purl.obolibrary.org/obo/MONDO_0013396 chromosome 1p32-p31 deletion syndrome 'chromosome 1p32-p31 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 1' 'chromosome 1p32-p31 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'chromosome 1p32-p31 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 1' 'chromosome 1p32-p31 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0013393 distal 7q11.23 microdeletion syndrome 'distal 7q11.23 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 7' 'distal 7q11.23 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome 'porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'disorder of development or morphogenesis' 'porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0013408 FADD-related immunodeficiency 'FADD-related immunodeficiency' SubClassOf 'immunodeficiency disease' 'FADD-related immunodeficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0013409 age related macular degeneration 5 'age related macular degeneration 5' SubClassOf 'age related macular degeneration, susceptibility to' 'age related macular degeneration 5' SubClassOf 'predisposes towards' some 'age-related macular degeneration' 'age related macular degeneration 5' SubClassOf 'age related macular degeneration, susceptibility to' 'age related macular degeneration 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf '46,XY disorder of sex development' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'adrenal gland disease' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf '46,XY disorder of sex development' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase' SubClassOf 'disorder of methionine catabolism' 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase' SubClassOf 'disorder of methionine catabolism' http://purl.obolibrary.org/obo/MONDO_0013401 hereditary spastic paraplegia 51 'hereditary spastic paraplegia 51' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 51' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013418 aortic aneurysm, familial thoracic 7 'aortic aneurysm, familial thoracic 7' SubClassOf 'familial thoracic aortic aneurysm and aortic dissection' 'aortic aneurysm, familial thoracic 7' SubClassOf 'familial thoracic aortic aneurysm and aortic dissection' http://purl.obolibrary.org/obo/MONDO_0013419 complement component C1s deficiency 'complement component C1s deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' 'complement component C1s deficiency' SubClassOf 'classic complement early component deficiency' 'complement component C1s deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' 'complement component C1s deficiency' SubClassOf 'classic complement early component deficiency' http://purl.obolibrary.org/obo/MONDO_0013417 complement component 3 deficiency 'complement component 3 deficiency' SubClassOf 'classic complement early component deficiency' 'complement component 3 deficiency' SubClassOf 'classic complement early component deficiency' http://purl.obolibrary.org/obo/MONDO_0013410 46,XY sex reversal 6 '46,XY sex reversal 6' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 6' SubClassOf '46,XY partial gonadal dysgenesis' '46,XY sex reversal 6' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 6' SubClassOf '46,XY partial gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0013411 cataract 16 multiple types 'cataract 16 multiple types' SubClassOf 'early-onset zonular cataract' 'cataract 16 multiple types' SubClassOf 'early-onset zonular cataract' http://purl.obolibrary.org/obo/MONDO_0013415 chromosome 17p13.1 deletion syndrome 'chromosome 17p13.1 deletion syndrome' SubClassOf 'chromosome 17p deletion' 'chromosome 17p13.1 deletion syndrome' SubClassOf 'chromosome 17p deletion' http://purl.obolibrary.org/obo/MONDO_0013412 hypertrophic cardiomyopathy 9 'hypertrophic cardiomyopathy 9' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 9' SubClassOf 'autosomal dominant titinopathy' 'hypertrophic cardiomyopathy 9' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 9' SubClassOf 'autosomal dominant titinopathy' http://purl.obolibrary.org/obo/MONDO_0013427 immunodeficiency 31B 'immunodeficiency 31B' SubClassOf 'immunodeficiency disease' 'immunodeficiency 31B' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0013421 type II complement component 8 deficiency 'type II complement component 8 deficiency' SubClassOf 'immunodeficiency due to a late component of complement deficiency' 'type II complement component 8 deficiency' SubClassOf 'classic complement early component deficiency' 'type II complement component 8 deficiency' SubClassOf 'immunodeficiency due to a late component of complement deficiency' 'type II complement component 8 deficiency' SubClassOf 'classic complement early component deficiency' http://purl.obolibrary.org/obo/MONDO_0013420 age related macular degeneration 12 'age related macular degeneration 12' SubClassOf 'age-related macular degeneration' 'age related macular degeneration 12' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0013426 aneurysm-osteoarthritis syndrome 'aneurysm-osteoarthritis syndrome' SubClassOf 'Loeys-Dietz syndrome' 'aneurysm-osteoarthritis syndrome' SubClassOf 'Loeys-Dietz syndrome' http://purl.obolibrary.org/obo/MONDO_0013423 immunodeficiency due to MASP-2 deficiency 'immunodeficiency due to MASP-2 deficiency' SubClassOf 'disorder of lectin complement activation pathway' 'immunodeficiency due to MASP-2 deficiency' SubClassOf 'disorder of lectin complement activation pathway' http://purl.obolibrary.org/obo/MONDO_0013424 3p- syndrome '3p- syndrome' SubClassOf 'partial deletion of the short arm of chromosome 3' '3p- syndrome' SubClassOf 'blepharophimosis - intellectual disability syndrome' '3p- syndrome' SubClassOf 'partial deletion of the short arm of chromosome 3' '3p- syndrome' SubClassOf 'blepharophimosis - intellectual disability syndrome' http://www.ebi.ac.uk/efo/EFO_0008610 ocular cicatricial pemphigoid 'ocular cicatricial pemphigoid' SubClassOf 'mucous membrane pemphigoid' 'ocular cicatricial pemphigoid' SubClassOf 'mucous membrane pemphigoid' http://purl.obolibrary.org/obo/MONDO_0013439 congenital bile acid synthesis defect 3 'congenital bile acid synthesis defect 3' SubClassOf 'Congenital bile acid synthesis defect' 'congenital bile acid synthesis defect 3' SubClassOf 'Congenital bile acid synthesis defect' http://www.ebi.ac.uk/efo/EFO_0008613 pemphigus vegetans 'pemphigus vegetans' SubClassOf 'pemphigus vulgaris' 'pemphigus vegetans' SubClassOf 'pemphigus vulgaris' http://www.ebi.ac.uk/efo/EFO_0008615 Cystic Kidney Disease 'Cystic Kidney Disease' SubClassOf 'kidney disease' 'Cystic Kidney Disease' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0008601 pemphigus foliaceus 'pemphigus foliaceus' SubClassOf 'pemphigus' 'pemphigus foliaceus' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_0008602 paraneoplastic pemphigus 'paraneoplastic pemphigus' SubClassOf 'autoimmune bullous skin disease' 'paraneoplastic pemphigus' SubClassOf 'paraneoplastic cutaneous syndrome' 'paraneoplastic pemphigus' SubClassOf 'autoimmune bullous skin disease' 'paraneoplastic pemphigus' SubClassOf 'paraneoplastic cutaneous syndrome' http://www.ebi.ac.uk/efo/EFO_0008603 pemphigus erythematosus 'pemphigus erythematosus' SubClassOf 'pemphigus' 'pemphigus erythematosus' SubClassOf 'pemphigus' http://purl.obolibrary.org/obo/MONDO_0013440 autosomal recessive limb-girdle muscular dystrophy type 2P 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0013452 multisystemic smooth muscle dysfunction syndrome 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'intestinal motility disease' 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0013453 Leber congenital amaurosis 8 'Leber congenital amaurosis 8' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 8' SubClassOf 'Leber congenital amaurosis' http://purl.obolibrary.org/obo/MONDO_0013458 hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 'hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'inherited renal tubular disease' 'hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'pulmonary hypertension' 'hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'inherited renal tubular disease' 'hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome' SubClassOf 'pulmonary hypertension' http://purl.obolibrary.org/obo/MONDO_0013459 osteogenesis imperfecta type 10 'osteogenesis imperfecta type 10' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'osteogenesis imperfecta type 10' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0013456 constitutional megaloblastic anemia with severe neurologic disease 'constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'disorder of folate metabolism and transport' 'constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'megaloblastic anemia' 'constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'disorder of folate metabolism and transport' 'constitutional megaloblastic anemia with severe neurologic disease' SubClassOf 'megaloblastic anemia' http://www.ebi.ac.uk/efo/EFO_0008623 dysthymic disorder 'dysthymic disorder' SubClassOf 'mood disorder' 'dysthymic disorder' SubClassOf 'mood disorder' http://www.ebi.ac.uk/efo/EFO_0008624 vitreous body disease 'vitreous body disease' SubClassOf 'eye disease' 'vitreous body disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0013463 congenital heart defects, multiple types, 6 'congenital heart defects, multiple types, 6' SubClassOf 'congenital heart defects, multiple types' 'congenital heart defects, multiple types, 6' SubClassOf 'congenital heart defects, multiple types' http://purl.obolibrary.org/obo/MONDO_0013464 episodic ataxia type 5 'episodic ataxia type 5' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 5' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0013467 immunodeficiency due to ficolin3 deficiency 'immunodeficiency due to ficolin3 deficiency' SubClassOf 'disorder of lectin complement activation pathway' 'immunodeficiency due to ficolin3 deficiency' SubClassOf 'disorder of lectin complement activation pathway' http://purl.obolibrary.org/obo/MONDO_0013461 inosine triphosphatase deficiency 'inosine triphosphatase deficiency' SubClassOf 'genetic disorder' 'inosine triphosphatase deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013462 fucosyltransferase 6 deficiency 'fucosyltransferase 6 deficiency' SubClassOf 'genetic disorder' 'fucosyltransferase 6 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013232 brachydactylous dwarfism, Mseleni type 'brachydactylous dwarfism, Mseleni type' SubClassOf 'spondyloepiphyseal dysplasia' 'brachydactylous dwarfism, Mseleni type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013233 spondyloepimetaphyseal dysplasia, Handigodu type 'spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013238 chromosome 17q23.1-q23.2 deletion syndrome 'chromosome 17q23.1-q23.2 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 17' 'chromosome 17q23.1-q23.2 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0013239 hereditary spastic paraplegia 41 'hereditary spastic paraplegia 41' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 41' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013237 susceptibility to mononeuropathy of the median nerve, mild 'susceptibility to mononeuropathy of the median nerve, mild' SubClassOf 'inherited disease susceptibility' 'susceptibility to mononeuropathy of the median nerve, mild' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0013245 syndromic multisystem autoimmune disease due to ITCH deficiency 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013247 Fanconi renotubular syndrome 2 'Fanconi renotubular syndrome 2' SubClassOf 'primary Fanconi syndrome' 'Fanconi renotubular syndrome 2' SubClassOf 'primary Fanconi syndrome' http://purl.obolibrary.org/obo/MONDO_0013241 spinocerebellar ataxia type 30 'spinocerebellar ataxia type 30' SubClassOf 'autosomal dominant cerebellar ataxia type III' 'spinocerebellar ataxia type 30' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0013240 maturity-onset diabetes of the young type 10 'maturity-onset diabetes of the young type 10' SubClassOf 'maturity-onset diabetes of the young' 'maturity-onset diabetes of the young type 10' SubClassOf 'maturity-onset diabetes of the young' http://purl.obolibrary.org/obo/MONDO_0013256 chromosome 15q24 deletion syndrome 'chromosome 15q24 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' 'chromosome 15q24 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 15q24 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' 'chromosome 15q24 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013254 microcephaly, seizures, and developmental delay 'microcephaly, seizures, and developmental delay' SubClassOf 'developmental and epileptic encephalopathy' 'microcephaly, seizures, and developmental delay' SubClassOf 'microcephaly' 'microcephaly, seizures, and developmental delay' SubClassOf 'developmental and epileptic encephalopathy' 'microcephaly, seizures, and developmental delay' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0013252 Warsaw breakage syndrome 'Warsaw breakage syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Warsaw breakage syndrome' SubClassOf 'genetic disorder' 'Warsaw breakage syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Warsaw breakage syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013251 Birbeck granule deficiency 'Birbeck granule deficiency' SubClassOf 'genetic disorder' 'Birbeck granule deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013267 distal 16p11.2 microdeletion syndrome 'distal 16p11.2 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' 'distal 16p11.2 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0013268 frontonasal dysplasia with alopecia and genital anomaly 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'frontonasal dysplasia' 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'integumentary system disease' 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'frontonasal dysplasia' 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0013278 lymphatic malformation 3 'lymphatic malformation 3' SubClassOf 'lymphatic malformation' 'lymphatic malformation 3' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0013279 long QT syndrome 13 'long QT syndrome 13' SubClassOf 'familial long QT syndrome' 'long QT syndrome 13' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0013276 Reynolds syndrome 'Reynolds syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Reynolds syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'frontonasal dysplasia' 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013275 hemolytic anemia due to glucophosphate isomerase deficiency 'hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'disorder of glycolysis' 'hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0013272 chromosome 14q11-q22 deletion syndrome 'chromosome 14q11-q22 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' 'chromosome 14q11-q22 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0013273 chromosome 16p13.3 duplication syndrome 'chromosome 16p13.3 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' 'chromosome 16p13.3 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0013281 COG4-congenital disorder of glycosylation 'COG4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG4-congenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG4-congenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' http://purl.obolibrary.org/obo/MONDO_0013282 alpha 1-antitrypsin deficiency 'alpha 1-antitrypsin deficiency' SubClassOf 'respiratory system disease' 'alpha 1-antitrypsin deficiency' SubClassOf 'plasma protein metabolism disease' 'alpha 1-antitrypsin deficiency' SubClassOf 'syndromic disease' 'alpha 1-antitrypsin deficiency' SubClassOf 'respiratory system disease' 'alpha 1-antitrypsin deficiency' SubClassOf 'plasma protein metabolism disease' 'alpha 1-antitrypsin deficiency' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013286 immunodeficiency, common variable, 6 'immunodeficiency, common variable, 6' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 6' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013284 immunodeficiency, common variable, 4 'immunodeficiency, common variable, 4' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 4' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013298 chromosome 17q21.31 duplication syndrome 'chromosome 17q21.31 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 17q21.31 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' 'chromosome 17q21.31 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 17q21.31 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0013299 chromosome 6q11-q14 deletion syndrome 'chromosome 6q11-q14 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' 'chromosome 6q11-q14 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0013292 chromosome 4q21 deletion syndrome 'chromosome 4q21 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 4' 'chromosome 4q21 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0013291 glycogen storage disease XV 'glycogen storage disease XV' SubClassOf 'GYG1-related disorder of glycogen metabolism' 'glycogen storage disease XV' SubClassOf 'GYG1-related disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0013296 myeloid neoplasm associated with FGFR1 rearrangement 'myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' 'myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' http://purl.obolibrary.org/obo/MONDO_0013297 autosomal dominant limb-girdle muscular dystrophy type 1H 'autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'autosomal dominant limb-girdle muscular dystrophy type 1H' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0037256 serous neoplasm 'serous neoplasm' SubClassOf 'glandular cell neoplasm' 'serous neoplasm' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0037250 childhood testicular neoplasm 'childhood testicular neoplasm' SubClassOf 'childhood neoplasm' 'childhood testicular neoplasm' SubClassOf 'neoplasm of testis' 'childhood testicular neoplasm' SubClassOf 'childhood neoplasm' 'childhood testicular neoplasm' SubClassOf 'neoplasm of testis' http://purl.obolibrary.org/obo/MONDO_0037254 transitional cell neoplasm 'transitional cell neoplasm' SubClassOf 'epithelial neoplasm' 'transitional cell neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0037255 ovarian serous tumor 'ovarian serous tumor' SubClassOf 'ovarian epithelial tumor' 'ovarian serous tumor' SubClassOf 'serous neoplasm' 'ovarian serous tumor' SubClassOf 'ovarian epithelial tumor' 'ovarian serous tumor' SubClassOf 'serous neoplasm' http://purl.obolibrary.org/obo/MONDO_0859689 hepatobiliary benign neoplasm 'hepatobiliary benign neoplasm' SubClassOf 'benign digestive system neoplasm' 'hepatobiliary benign neoplasm' SubClassOf 'benign digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0003909 Bartholin gland adenomyoma 'Bartholin gland adenomyoma' SubClassOf 'vulvar glandular neoplasm' 'Bartholin gland adenomyoma' SubClassOf 'adenomyoma' 'Bartholin gland adenomyoma' SubClassOf 'vulvar glandular neoplasm' 'Bartholin gland adenomyoma' SubClassOf 'adenomyoma' http://purl.obolibrary.org/obo/MONDO_0003901 cerebellar hemangioblastoma 'cerebellar hemangioblastoma' SubClassOf 'hemangioblastoma' 'cerebellar hemangioblastoma' SubClassOf 'hemangioblastoma' http://purl.obolibrary.org/obo/MONDO_0003902 brain stem hemangioblastoma 'brain stem hemangioblastoma' SubClassOf 'hemangioblastoma' 'brain stem hemangioblastoma' SubClassOf 'hemangioblastoma' http://purl.obolibrary.org/obo/MONDO_0003911 ciliary body mixed cell melanoma 'ciliary body mixed cell melanoma' SubClassOf 'malignant ciliary body melanoma' 'ciliary body mixed cell melanoma' SubClassOf 'Mixed Cell Uveal Melanoma' 'ciliary body mixed cell melanoma' SubClassOf 'malignant ciliary body melanoma' 'ciliary body mixed cell melanoma' SubClassOf 'Mixed Cell Uveal Melanoma' http://purl.obolibrary.org/obo/MONDO_0003916 overnutrition 'overnutrition' SubClassOf 'nutritional disorder' 'overnutrition' SubClassOf 'nutritional disorder' http://purl.obolibrary.org/obo/MONDO_0003917 heart lymphoma 'heart lymphoma' SubClassOf 'heart cancer' 'heart lymphoma' SubClassOf 'lymphoma' 'heart lymphoma' SubClassOf 'heart cancer' 'heart lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0003912 malignant ciliary body melanoma 'malignant ciliary body melanoma' SubClassOf 'ciliary body cancer' 'malignant ciliary body melanoma' SubClassOf 'ciliary body cancer' http://purl.obolibrary.org/obo/MONDO_0003913 choroid mixed cell melanoma 'choroid mixed cell melanoma' SubClassOf 'Mixed Cell Uveal Melanoma' 'choroid mixed cell melanoma' SubClassOf 'malignant choroid melanoma' 'choroid mixed cell melanoma' SubClassOf 'Mixed Cell Uveal Melanoma' 'choroid mixed cell melanoma' SubClassOf 'malignant choroid melanoma' http://purl.obolibrary.org/obo/MONDO_0003915 cortical thymoma 'cortical thymoma' SubClassOf 'thymoma type B' 'cortical thymoma' SubClassOf 'thymoma type B' http://purl.obolibrary.org/obo/MONDO_0003922 ovarian clear cell malignant adenofibroma 'ovarian clear cell malignant adenofibroma' SubClassOf 'ovarian clear cell cancer' 'ovarian clear cell malignant adenofibroma' SubClassOf 'ovarian clear cell cancer' http://purl.obolibrary.org/obo/MONDO_0003923 ethmoid sinus Schneiderian papilloma 'ethmoid sinus Schneiderian papilloma' SubClassOf 'Paranasal Sinus Schneiderian Papilloma' 'ethmoid sinus Schneiderian papilloma' SubClassOf 'benign neoplasm of ethmoidal sinus' 'ethmoid sinus Schneiderian papilloma' SubClassOf 'Paranasal Sinus Schneiderian Papilloma' 'ethmoid sinus Schneiderian papilloma' SubClassOf 'benign neoplasm of ethmoidal sinus' http://purl.obolibrary.org/obo/MONDO_0003925 ethmoid sinus inverted papilloma 'ethmoid sinus inverted papilloma' SubClassOf 'ethmoid sinus Schneiderian papilloma' 'ethmoid sinus inverted papilloma' SubClassOf 'inverted papilloma' 'ethmoid sinus inverted papilloma' SubClassOf 'inverted papilloma' 'ethmoid sinus inverted papilloma' SubClassOf 'ethmoid sinus Schneiderian papilloma' http://purl.obolibrary.org/obo/MONDO_0003926 neurilemmoma of the pleura 'neurilemmoma of the pleura' SubClassOf 'peripheral nerve schwannoma' 'neurilemmoma of the pleura' SubClassOf 'peripheral nerve schwannoma' http://purl.obolibrary.org/obo/MONDO_0003930 non-invasive bladder urothelial carcinoma 'non-invasive bladder urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' 'non-invasive bladder urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003932 childhood optic nerve glioma 'childhood optic nerve glioma' SubClassOf 'optic nerve glioblastoma' 'childhood optic nerve glioma' SubClassOf 'optic nerve glioblastoma' http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disorder 'muscle tissue disorder' SubClassOf 'musculoskeletal system disease' 'muscle tissue disorder' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0003934 breast apocrine carcinoma 'breast apocrine carcinoma' SubClassOf 'breast ductal adenocarcinoma' 'breast apocrine carcinoma' SubClassOf 'apocrine adenocarcinoma' 'breast apocrine carcinoma' SubClassOf 'breast ductal adenocarcinoma' 'breast apocrine carcinoma' SubClassOf 'apocrine adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003936 invasive tubular breast carcinoma 'invasive tubular breast carcinoma' SubClassOf 'tubular adenocarcinoma' 'invasive tubular breast carcinoma' SubClassOf 'tubular adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003937 spondylitis 'spondylitis' SubClassOf 'inflammatory disease' 'spondylitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0003944 endobronchial leiomyoma 'endobronchial leiomyoma' EquivalentTo 'lung leiomyoma' and ('disease has location' some 'bronchus') 'endobronchial leiomyoma' SubClassOf 'lung leiomyoma' 'endobronchial leiomyoma' EquivalentTo 'lung leiomyoma' and ('disease has location' some 'bronchus') 'endobronchial leiomyoma' SubClassOf 'lung leiomyoma' http://purl.obolibrary.org/obo/MONDO_0003945 bone epithelioid hemangioma 'bone epithelioid hemangioma' SubClassOf 'epithelioid hemangioma' 'bone epithelioid hemangioma' SubClassOf 'epithelioid hemangioma' http://purl.obolibrary.org/obo/MONDO_0003946 vaginal villous adenoma 'vaginal villous adenoma' SubClassOf 'vaginal adenoma' 'vaginal villous adenoma' SubClassOf 'villous adenoma' 'vaginal villous adenoma' SubClassOf 'vaginal adenoma' 'vaginal villous adenoma' SubClassOf 'villous adenoma' http://purl.obolibrary.org/obo/MONDO_0003947 hyper-IgM syndrome 'hyper-IgM syndrome' SubClassOf 'hyperimmunoglobulin syndrome' 'hyper-IgM syndrome' SubClassOf 'hyperimmunoglobulin syndrome' http://purl.obolibrary.org/obo/MONDO_0003948 cerebral hemangioma 'cerebral hemangioma' SubClassOf 'brain hemangioma' 'cerebral hemangioma' SubClassOf 'benign neoplasm of cerebrum' 'cerebral hemangioma' SubClassOf 'brain hemangioma' 'cerebral hemangioma' SubClassOf 'benign neoplasm of cerebrum' http://purl.obolibrary.org/obo/MONDO_0003952 adult central nervous system choriocarcinoma 'adult central nervous system choriocarcinoma' SubClassOf 'choriocarcinoma of the central nervous system' 'adult central nervous system choriocarcinoma' SubClassOf 'adult central nervous system germ cell tumor' 'adult central nervous system choriocarcinoma' SubClassOf 'choriocarcinoma of the central nervous system' 'adult central nervous system choriocarcinoma' SubClassOf 'adult central nervous system germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003953 pediatric CNS choriocarcinoma 'pediatric CNS choriocarcinoma' SubClassOf 'childhood central nervous system germ cell tumor' 'pediatric CNS choriocarcinoma' SubClassOf 'childhood central nervous system germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003954 angiokeratoma of Fordyce 'angiokeratoma of Fordyce' SubClassOf 'angiokeratoma' 'angiokeratoma of Fordyce' SubClassOf 'angiokeratoma' http://purl.obolibrary.org/obo/MONDO_0003950 nipple carcinoma 'nipple carcinoma' SubClassOf 'nipple neoplasm' 'nipple carcinoma' SubClassOf 'breast carcinoma' 'nipple carcinoma' SubClassOf 'nipple neoplasm' 'nipple carcinoma' SubClassOf 'breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0003951 scrotal hemangioma 'scrotal hemangioma' SubClassOf 'benign neoplasm of scrotum' 'scrotal hemangioma' SubClassOf 'skin hemangioma' 'scrotal hemangioma' SubClassOf 'benign neoplasm of scrotum' 'scrotal hemangioma' SubClassOf 'skin hemangioma' http://purl.obolibrary.org/obo/MONDO_0003957 adult pineoblastoma 'adult pineoblastoma' SubClassOf 'Pineoblastoma' 'adult pineoblastoma' SubClassOf 'adult pineal parenchymal tumor' 'adult pineoblastoma' SubClassOf 'Pineoblastoma' 'adult pineoblastoma' SubClassOf 'adult pineal parenchymal tumor' http://purl.obolibrary.org/obo/MONDO_0003958 childhood central nervous system immature teratoma 'childhood central nervous system immature teratoma' SubClassOf 'central nervous system immature teratoma' 'childhood central nervous system immature teratoma' SubClassOf 'central nervous system immature teratoma' http://purl.obolibrary.org/obo/MONDO_0003959 breast large cell neuroendocrine carcinoma 'breast large cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'breast large cell neuroendocrine carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'breast large cell neuroendocrine carcinoma' SubClassOf 'breast neuroendocrine neoplasm' 'breast large cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'breast large cell neuroendocrine carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'breast large cell neuroendocrine carcinoma' SubClassOf 'breast neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0003960 pulmonary large cell neuroendocrine carcinoma 'pulmonary large cell neuroendocrine carcinoma' SubClassOf 'large cell lung carcinoma' 'pulmonary large cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'pulmonary large cell neuroendocrine carcinoma' SubClassOf 'pulmonary neuroendocrine tumor' 'pulmonary large cell neuroendocrine carcinoma' SubClassOf 'large cell lung carcinoma' 'pulmonary large cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'pulmonary large cell neuroendocrine carcinoma' SubClassOf 'pulmonary neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0003976 malignant type AB thymoma 'malignant type AB thymoma' SubClassOf 'Thymoma Type AB' 'malignant type AB thymoma' SubClassOf 'Thymoma Type AB' http://purl.obolibrary.org/obo/MONDO_0003978 colon small cell neuroendocrine carcinoma 'colon small cell neuroendocrine carcinoma' SubClassOf 'colon carcinoma' 'colon small cell neuroendocrine carcinoma' SubClassOf 'colon neuroendocrine neoplasm' 'colon small cell neuroendocrine carcinoma' SubClassOf 'small cell carcinoma' 'colon small cell neuroendocrine carcinoma' SubClassOf 'colon carcinoma' 'colon small cell neuroendocrine carcinoma' SubClassOf 'colon neuroendocrine neoplasm' 'colon small cell neuroendocrine carcinoma' SubClassOf 'small cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003979 intrahepatic bile duct cystadenoma 'intrahepatic bile duct cystadenoma' SubClassOf 'intrahepatic bile duct adenoma' 'intrahepatic bile duct cystadenoma' SubClassOf 'bile duct cystadenoma' 'intrahepatic bile duct cystadenoma' SubClassOf 'intrahepatic bile duct adenoma' 'intrahepatic bile duct cystadenoma' SubClassOf 'bile duct cystadenoma' http://purl.obolibrary.org/obo/MONDO_0003987 lung lymphoma 'lung lymphoma' SubClassOf 'lymphoma' 'lung lymphoma' SubClassOf 'lung cancer' 'lung lymphoma' SubClassOf 'lymphoma' 'lung lymphoma' SubClassOf 'lung cancer' http://purl.obolibrary.org/obo/MONDO_0003982 bilateral breast carcinoma 'bilateral breast carcinoma' SubClassOf 'breast carcinoma' 'bilateral breast carcinoma' SubClassOf 'breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0013308 CBL-related disorder 'CBL-related disorder' SubClassOf 'rasopathy' 'CBL-related disorder' SubClassOf 'rasopathy' http://purl.obolibrary.org/obo/MONDO_0013306 combined oxidative phosphorylation defect type 7 'combined oxidative phosphorylation defect type 7' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 7' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013300 commissural facial cleft 'commissural facial cleft' SubClassOf 'facial cleft' 'commissural facial cleft' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency 'aromatase deficiency' SubClassOf 'pregnancy disorder' 'aromatase deficiency' SubClassOf 'inherited primary ovarian failure' 'aromatase deficiency' SubClassOf 'pregnancy disorder' 'aromatase deficiency' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0013304 von Willebrand disease 2 'von Willebrand disease 2' SubClassOf 'hereditary von Willebrand disease' 'von Willebrand disease 2' SubClassOf 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0013302 nephronophthisis 11 'nephronophthisis 11' SubClassOf 'nephronophthisis' 'nephronophthisis 11' SubClassOf 'Senior-Boichis syndrome' 'nephronophthisis 11' SubClassOf 'nephronophthisis' 'nephronophthisis 11' SubClassOf 'Senior-Boichis syndrome' http://purl.obolibrary.org/obo/MONDO_0003997 colon Kaposi sarcoma 'colon Kaposi sarcoma' SubClassOf 'colon sarcoma' 'colon Kaposi sarcoma' SubClassOf 'colon sarcoma' http://purl.obolibrary.org/obo/MONDO_0003990 malignant breast myoepithelioma 'malignant breast myoepithelioma' SubClassOf 'breast myoepithelial tumor' 'malignant breast myoepithelioma' SubClassOf 'malignant myoepithelioma' 'malignant breast myoepithelioma' SubClassOf 'Invasive Breast Carcinoma' 'malignant breast myoepithelioma' SubClassOf 'breast myoepithelial tumor' 'malignant breast myoepithelioma' SubClassOf 'malignant myoepithelioma' 'malignant breast myoepithelioma' SubClassOf 'Invasive Breast Carcinoma' http://purl.obolibrary.org/obo/MONDO_0013317 torsade-de-pointes syndrome with short coupling interval 'torsade-de-pointes syndrome with short coupling interval' SubClassOf 'cardiac rhythm disease' 'torsade-de-pointes syndrome with short coupling interval' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0013318 early repolarization associated with ventricular fibrillation 'early repolarization associated with ventricular fibrillation' SubClassOf 'genetic disorder' 'early repolarization associated with ventricular fibrillation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013311 ectodermal dysplasia-syndactyly syndrome 'ectodermal dysplasia-syndactyly syndrome' SubClassOf 'disease has major feature' some 'Syndactyly' 'ectodermal dysplasia-syndactyly syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Syndactyly' 'ectodermal dysplasia-syndactyly syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'reproductive system disease' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'reproductive system disease' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0013316 occult macular dystrophy 'occult macular dystrophy' SubClassOf 'macular degeneration' 'occult macular dystrophy' SubClassOf 'hereditary macular dystrophy' 'occult macular dystrophy' SubClassOf 'macular degeneration' 'occult macular dystrophy' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0013313 ectodermal dysplasia-cutaneous syndactyly syndrome 'ectodermal dysplasia-cutaneous syndactyly syndrome' SubClassOf 'ectodermal dysplasia-syndactyly syndrome' 'ectodermal dysplasia-cutaneous syndactyly syndrome' SubClassOf 'ectodermal dysplasia-syndactyly syndrome' http://purl.obolibrary.org/obo/MONDO_0013329 familial clubfoot due to 17q23.1q23.2 microduplication 'familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'familial clubfoot with or without associated lower limb anomalies' 'familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'partial duplication of the long arm of chromosome 17' 'familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'familial clubfoot with or without associated lower limb anomalies' 'familial clubfoot due to 17q23.1q23.2 microduplication' SubClassOf 'partial duplication of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0013320 chromosome 16p12.2-p11.2 deletion syndrome 'chromosome 16p12.2-p11.2 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' 'chromosome 16p12.2-p11.2 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0013326 Senior-Loken syndrome 7 'Senior-Loken syndrome 7' SubClassOf 'Senior-Loken syndrome' 'Senior-Loken syndrome 7' SubClassOf 'Senior-Loken syndrome' http://purl.obolibrary.org/obo/MONDO_0013327 primary hyperoxaluria type 3 'primary hyperoxaluria type 3' SubClassOf 'primary hyperoxaluria' 'primary hyperoxaluria type 3' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0013324 lymphedema-posterior choanal atresia syndrome 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'genetic disorder' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'lymphangioma' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'genetic disorder' 'lymphedema-posterior choanal atresia syndrome' SubClassOf 'lymphangioma' http://purl.obolibrary.org/obo/MONDO_0013325 COG5-congenital disorder of glycosylation 'COG5-congenital disorder of glycosylation' SubClassOf 'syndromic disease' 'COG5-congenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG5-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG5-congenital disorder of glycosylation' SubClassOf 'syndromic disease' 'COG5-congenital disorder of glycosylation' SubClassOf 'defect in conserved oligomeric Golgi complex' 'COG5-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0013339 dilated cardiomyopathy 1GG 'dilated cardiomyopathy 1GG' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1GG' SubClassOf 'familial dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0008997 synovitis 'synovitis' SubClassOf 'connective tissue disease' 'synovitis' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/MONDO_0013334 cocoon syndrome 'cocoon syndrome' SubClassOf 'congenital limb malformation' 'cocoon syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0013338 Charcot-Marie-Tooth disease recessive intermediate B 'Charcot-Marie-Tooth disease recessive intermediate B' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease recessive intermediate B' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0013336 chromosome 19p13.13 deletion syndrome 'chromosome 19p13.13 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 19' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 19' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 'hereditary spastic paraplegia 48' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 48' SubClassOf 'lysosomal storage disease' 'hereditary spastic paraplegia 48' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 48' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0013343 C1Q deficiency 'C1Q deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' 'C1Q deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' http://purl.obolibrary.org/obo/MONDO_0013349 ALG11-congenital disorder of glycosylation 'ALG11-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG11-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG11-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG11-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0013340 Parkinson disease 5, autosomal dominant, susceptibility to 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0013341 methylmalonic acidemia due to transcobalamin receptor defect 'methylmalonic acidemia due to transcobalamin receptor defect' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'methylmalonic acidemia due to transcobalamin receptor defect' SubClassOf 'methylmalonic acidemia' 'methylmalonic acidemia due to transcobalamin receptor defect' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'methylmalonic acidemia due to transcobalamin receptor defect' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0027766 generalized lipodystrophy 'generalized lipodystrophy' SubClassOf 'lipodystrophy' 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and ('disease has major feature' some 'Generalized lipodystrophy') 'generalized lipodystrophy' SubClassOf 'disease has major feature' some 'Generalized lipodystrophy' 'generalized lipodystrophy' SubClassOf 'lipodystrophy' 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Generalized lipodystrophy') 'generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Generalized lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0003796 rectum Kaposi sarcoma 'rectum Kaposi sarcoma' SubClassOf 'rectum sarcoma' 'rectum Kaposi sarcoma' SubClassOf 'rectum sarcoma' http://purl.obolibrary.org/obo/MONDO_0027767 partial lipodystrophy 'partial lipodystrophy' SubClassOf 'lipodystrophy' 'partial lipodystrophy' SubClassOf 'lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 'acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'infantile liver failure' 'acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'infantile liver failure' http://purl.obolibrary.org/obo/MONDO_0013112 bronchiectasis with or without elevated sweat chloride 3 'bronchiectasis with or without elevated sweat chloride 3' SubClassOf 'idiopathic bronchiectasis' 'bronchiectasis with or without elevated sweat chloride 3' SubClassOf 'idiopathic bronchiectasis' http://purl.obolibrary.org/obo/MONDO_0013117 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' http://purl.obolibrary.org/obo/MONDO_0013118 Nijmegen breakage syndrome-like disorder 'Nijmegen breakage syndrome-like disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'DNA repair deficiency' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0013115 RIN2 syndrome 'RIN2 syndrome' SubClassOf 'inherited cutis laxa' 'RIN2 syndrome' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'inborn mitochondrial myopathy' 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0013110 neurodegenerative syndrome due to cerebral folate transport deficiency 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'inherited neurodegenerative disorder' 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disorder of folate metabolism and transport' 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'vitamin metabolic disorder' 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'inherited neurodegenerative disorder' 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disorder of folate metabolism and transport' 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0013125 CLAPO syndrome 'CLAPO syndrome' SubClassOf 'overgrowth syndrome' 'CLAPO syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0013128 familial juvenile hyperuricemic nephropathy type 2 'familial juvenile hyperuricemic nephropathy type 2' SubClassOf 'familial juvenile hyperuricemic nephropathy' 'familial juvenile hyperuricemic nephropathy type 2' SubClassOf 'inherited renal tubular disease' 'familial juvenile hyperuricemic nephropathy type 2' SubClassOf 'familial juvenile hyperuricemic nephropathy' 'familial juvenile hyperuricemic nephropathy type 2' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0013127 asphyxiating thoracic dystrophy 3 'asphyxiating thoracic dystrophy 3' SubClassOf 'Jeune syndrome' 'asphyxiating thoracic dystrophy 3' SubClassOf 'Jeune syndrome' http://purl.obolibrary.org/obo/MONDO_0013136 hereditary hypotrichosis with recurrent skin vesicles 'hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'alopecia' 'hereditary hypotrichosis with recurrent skin vesicles' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0037105 lung germ cell tumor 'lung germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'lung germ cell tumor' SubClassOf 'lung neoplasm' 'lung germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'lung germ cell tumor' SubClassOf 'lung neoplasm' http://purl.obolibrary.org/obo/MONDO_0013139 neutropenia, severe congenital, 2, autosomal dominant 'neutropenia, severe congenital, 2, autosomal dominant' SubClassOf 'autosomal dominant severe congenital neutropenia' 'neutropenia, severe congenital, 2, autosomal dominant' SubClassOf 'autosomal dominant severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0013137 choroidal dystrophy, central areolar 2 'choroidal dystrophy, central areolar 2' SubClassOf 'central areolar choroidal dystrophy' 'choroidal dystrophy, central areolar 2' SubClassOf 'central areolar choroidal dystrophy' http://purl.obolibrary.org/obo/MONDO_0013131 polycystic kidney disease 2 'polycystic kidney disease 2' SubClassOf 'Autosomal dominant polycystic kidney disease' 'polycystic kidney disease 2' SubClassOf 'Autosomal dominant polycystic kidney disease' http://purl.obolibrary.org/obo/MONDO_0013132 hereditary spastic paraplegia 36 'hereditary spastic paraplegia 36' SubClassOf 'autosomal dominant complex spastic paraplegia' 'hereditary spastic paraplegia 36' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013130 isolated microphthalmia 4 'isolated microphthalmia 4' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' 'isolated microphthalmia 4' SubClassOf 'isolated microphthalmia' 'isolated microphthalmia 4' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' 'isolated microphthalmia 4' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0027772 lung colloid adenocarcinoma 'lung colloid adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'lung colloid adenocarcinoma' SubClassOf 'mucinous carcinoma' 'lung colloid adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'lung colloid adenocarcinoma' SubClassOf 'mucinous carcinoma' http://purl.obolibrary.org/obo/MONDO_0013147 dilated cardiomyopathy 1CC 'dilated cardiomyopathy 1CC' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1CC' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013144 hereditary antithrombin deficiency 'hereditary antithrombin deficiency' SubClassOf 'secondary avascular necrosis' 'hereditary antithrombin deficiency' SubClassOf 'inherited thrombophilia' 'hereditary antithrombin deficiency' SubClassOf 'secondary avascular necrosis' 'hereditary antithrombin deficiency' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0013148 Brugada syndrome 8 'Brugada syndrome 8' SubClassOf 'Brugada syndrome' 'Brugada syndrome 8' SubClassOf 'Brugada syndrome' http://purl.obolibrary.org/obo/MONDO_0013143 hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 'hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'inherited thrombophilia' 'hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'secondary avascular necrosis' 'hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'inherited thrombophilia' 'hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency' SubClassOf 'secondary avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0013140 candidiasis, familial, 4 'candidiasis, familial, 4' SubClassOf 'chronic mucocutaneous candidiasis' 'candidiasis, familial, 4' SubClassOf 'chronic mucocutaneous candidiasis' http://purl.obolibrary.org/obo/MONDO_0013157 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5' SubClassOf 'qualitative or quantitative defects of FKRP' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5' SubClassOf 'qualitative or quantitative defects of FKRP' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0013158 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3' SubClassOf 'myopathy caused by variation in POMGNT1' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3' SubClassOf 'myopathy caused by variation in POMGNT1' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'myopathy caused by variation in FKTN' 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'myopathy caused by variation in FKTN' 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1' SubClassOf 'myopathy caused by variation in POMT1' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1' SubClassOf 'myopathy caused by variation in POMT1' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0013150 parkinsonism-dystonia, infantile 'parkinsonism-dystonia, infantile' SubClassOf 'syndromic disease' 'parkinsonism-dystonia, infantile' SubClassOf 'combined dystonia' 'parkinsonism-dystonia, infantile' SubClassOf 'parkinsonian disorder' 'parkinsonism-dystonia, infantile' SubClassOf 'syndromic disease' 'parkinsonism-dystonia, infantile' SubClassOf 'combined dystonia' 'parkinsonism-dystonia, infantile' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0013154 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2' SubClassOf 'myopathy caused by variation in POMT2' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2' SubClassOf 'myopathy caused by variation in POMT2' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2' SubClassOf 'muscle-eye-brain disease' http://purl.obolibrary.org/obo/MONDO_0013168 dilated cardiomyopathy 1DD 'dilated cardiomyopathy 1DD' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1DD' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013169 chromosome 5p13 duplication syndrome 'chromosome 5p13 duplication syndrome' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 5' 'chromosome 5p13 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 5p13 duplication syndrome' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 5' 'chromosome 5p13 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013166 GABA aminotransaminase deficiency 'GABA aminotransaminase deficiency' SubClassOf 'disorder of beta and omega amino acid metabolism' 'GABA aminotransaminase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' 'GABA aminotransaminase deficiency' SubClassOf 'disorder of beta and omega amino acid metabolism' 'GABA aminotransaminase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2' SubClassOf 'myopathy caused by variation in POMT2' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2' SubClassOf 'myopathy caused by variation in POMT2' http://purl.obolibrary.org/obo/MONDO_0013161 autosomal recessive limb-girdle muscular dystrophy type 2O 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'myopathy caused by variation in POMGNT1' 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'myopathy caused by variation in POMGNT1' 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' http://purl.obolibrary.org/obo/MONDO_0013164 beta-ureidopropionase deficiency 'beta-ureidopropionase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' 'beta-ureidopropionase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0013165 hereditary spastic paraplegia 45 'hereditary spastic paraplegia 45' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 45' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013162 autosomal recessive limb-girdle muscular dystrophy type 2N 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'qualitative or quantitative defects of protein O-mannosyltransferase 2' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'myopathy caused by variation in POMT2' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'myopathy caused by variation in POMT2' 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'qualitative or quantitative defects of protein O-mannosyltransferase 2' http://purl.obolibrary.org/obo/MONDO_0013179 hereditary spastic paraplegia 44 'hereditary spastic paraplegia 44' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 44' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0013177 congenital muscular dystrophy due to integrin alpha-7 deficiency 'congenital muscular dystrophy due to integrin alpha-7 deficiency' SubClassOf 'congenital muscular dystrophy' 'congenital muscular dystrophy due to integrin alpha-7 deficiency' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0013178 congenital muscular dystrophy due to LMNA mutation 'congenital muscular dystrophy due to LMNA mutation' SubClassOf 'congenital muscular dystrophy' 'congenital muscular dystrophy due to LMNA mutation' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0013171 purine nucleoside phosphorylase deficiency 'purine nucleoside phosphorylase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'purine nucleoside phosphorylase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0013172 polymicrogyria with optic nerve hypoplasia 'polymicrogyria with optic nerve hypoplasia' SubClassOf 'complex cortical dysplasia with other brain malformations' 'polymicrogyria with optic nerve hypoplasia' SubClassOf 'complex cortical dysplasia with other brain malformations' http://purl.obolibrary.org/obo/MONDO_0013170 cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 'cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'inherited cutis laxa' 'cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0013175 retinitis pigmentosa 50 'retinitis pigmentosa 50' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 50' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0013176 Weill-Marchesani 4 syndrome, recessive 'Weill-Marchesani 4 syndrome, recessive' SubClassOf 'Weill-Marchesani syndrome' 'Weill-Marchesani 4 syndrome, recessive' SubClassOf 'Weill-Marchesani syndrome' http://purl.obolibrary.org/obo/MONDO_0013173 intellectual disability, autosomal recessive 13 'intellectual disability, autosomal recessive 13' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 13' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013189 trichotillomania 'trichotillomania' SubClassOf 'impulse control disorder' 'trichotillomania' SubClassOf 'genetic disorder' 'trichotillomania' SubClassOf 'impulse control disorder' 'trichotillomania' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013182 chromosome 17p13.3 duplication syndrome 'chromosome 17p13.3 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17' 'chromosome 17p13.3 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome 17p13.3 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17' 'chromosome 17p13.3 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013186 Noonan syndrome 6 'Noonan syndrome 6' SubClassOf 'Noonan syndrome' 'Noonan syndrome 6' SubClassOf 'Noonan syndrome' http://purl.obolibrary.org/obo/MONDO_0013187 factor XIII, A subunit, deficiency of 'factor XIII, A subunit, deficiency of' SubClassOf 'congenital factor XIII deficiency' 'factor XIII, A subunit, deficiency of' SubClassOf 'congenital factor XIII deficiency' http://purl.obolibrary.org/obo/MONDO_0013191 focal segmental glomerulosclerosis 5 'focal segmental glomerulosclerosis 5' SubClassOf 'inherited focal segmental glomerulosclerosis' 'focal segmental glomerulosclerosis 5' SubClassOf 'inherited focal segmental glomerulosclerosis' http://purl.obolibrary.org/obo/MONDO_0013197 hypertrophic cardiomyopathy 14 'hypertrophic cardiomyopathy 14' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 14' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013198 dilated cardiomyopathy 1EE 'dilated cardiomyopathy 1EE' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1EE' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013195 hypertrophic cardiomyopathy 13 'hypertrophic cardiomyopathy 13' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 13' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013196 Lynch syndrome 8 'Lynch syndrome 8' SubClassOf 'hereditary nonpolyposis colon cancer' 'Lynch syndrome 8' SubClassOf 'hereditary nonpolyposis colon cancer' http://purl.obolibrary.org/obo/MONDO_0003801 corneal intraepithelial neoplasm 'corneal intraepithelial neoplasm' SubClassOf 'squamous cell intraepithelial neoplasia' 'corneal intraepithelial neoplasm' SubClassOf 'cornea neoplasm' 'corneal intraepithelial neoplasm' SubClassOf 'squamous cell intraepithelial neoplasia' 'corneal intraepithelial neoplasm' SubClassOf 'cornea neoplasm' http://purl.obolibrary.org/obo/MONDO_0003808 mediastinal extraskeletal osteosarcoma 'mediastinal extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'mediastinal extraskeletal osteosarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinal extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'mediastinal extraskeletal osteosarcoma' SubClassOf 'mediastinum sarcoma' http://purl.obolibrary.org/obo/MONDO_0003809 malignant mediastinum hemangiopericytoma 'malignant mediastinum hemangiopericytoma' SubClassOf 'hemangiopericytoma, malignant' 'malignant mediastinum hemangiopericytoma' SubClassOf 'hemangiopericytoma, malignant' http://purl.obolibrary.org/obo/MONDO_0003802 cornea cancer 'cornea cancer' SubClassOf 'ocular cancer' 'cornea cancer' SubClassOf 'cornea neoplasm' 'cornea cancer' SubClassOf 'ocular cancer' 'cornea cancer' SubClassOf 'cornea neoplasm' http://purl.obolibrary.org/obo/MONDO_0003805 malignant pericardial mesothelioma 'malignant pericardial mesothelioma' SubClassOf 'pericardium cancer' 'malignant pericardial mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant pericardial mesothelioma' SubClassOf 'pericardium cancer' 'malignant pericardial mesothelioma' SubClassOf 'Malignant Mesothelioma' http://purl.obolibrary.org/obo/MONDO_0003812 ovarian endometrial cancer 'ovarian endometrial cancer' SubClassOf 'malignant epithelial tumor of ovary' 'ovarian endometrial cancer' SubClassOf 'endometrioid tumor' 'ovarian endometrial cancer' SubClassOf 'malignant epithelial tumor of ovary' 'ovarian endometrial cancer' SubClassOf 'endometrioid tumor' http://purl.obolibrary.org/obo/MONDO_0003819 childhood teratoma of the ovary 'childhood teratoma of the ovary' SubClassOf 'ovarian teratoma' 'childhood teratoma of the ovary' SubClassOf 'ovarian teratoma' http://purl.obolibrary.org/obo/MONDO_0003813 ovarian papillary tumor 'ovarian papillary tumor' SubClassOf 'papillary epithelial neoplasm' 'ovarian papillary tumor' SubClassOf 'ovarian epithelial tumor' 'ovarian papillary tumor' SubClassOf 'papillary epithelial neoplasm' 'ovarian papillary tumor' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disorder 'articular cartilage disorder' SubClassOf 'joint disease' 'articular cartilage disorder' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0003821 ovarian biphasic or triphasic teratoma 'ovarian biphasic or triphasic teratoma' SubClassOf 'ovarian teratoma' 'ovarian biphasic or triphasic teratoma' SubClassOf 'ovarian teratoma' http://purl.obolibrary.org/obo/MONDO_0003822 non-invasive bladder papillary urothelial neoplasm 'non-invasive bladder papillary urothelial neoplasm' SubClassOf 'bladder papillary urothelial neoplasm' 'non-invasive bladder papillary urothelial neoplasm' SubClassOf 'urinary tract non-invasive transitional cell neoplasm' 'non-invasive bladder papillary urothelial neoplasm' SubClassOf 'bladder papillary urothelial neoplasm' 'non-invasive bladder papillary urothelial neoplasm' SubClassOf 'urinary tract non-invasive transitional cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003828 growth hormone-producing pituitary gland carcinoma 'growth hormone-producing pituitary gland carcinoma' SubClassOf 'growth hormone-producing pituitary gland neoplasm' 'growth hormone-producing pituitary gland carcinoma' SubClassOf 'growth hormone-producing pituitary gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0003824 hereditary kidney oncocytoma 'hereditary kidney oncocytoma' SubClassOf 'kidney oncocytoma' 'hereditary kidney oncocytoma' SubClassOf 'kidney oncocytoma' http://purl.obolibrary.org/obo/MONDO_0003825 kidney oncocytoma 'kidney oncocytoma' SubClassOf 'oncocytic neoplasm' 'kidney oncocytoma' SubClassOf 'kidney benign neoplasm' 'kidney oncocytoma' SubClassOf 'oncocytic neoplasm' 'kidney oncocytoma' SubClassOf 'kidney benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003826 mediastinum seminoma 'mediastinum seminoma' SubClassOf 'Mediastinal Malignant Germ Cell Tumor' 'mediastinum seminoma' SubClassOf 'extragonadal seminoma' 'mediastinum seminoma' SubClassOf 'Mediastinal Malignant Germ Cell Tumor' 'mediastinum seminoma' SubClassOf 'extragonadal seminoma' http://purl.obolibrary.org/obo/MONDO_0003827 transient hypogammaglobulinemia 'transient hypogammaglobulinemia' SubClassOf 'syndromic agammaglobulinemia' 'transient hypogammaglobulinemia' SubClassOf 'syndromic agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0003832 complement deficiency 'complement deficiency' SubClassOf 'inborn error of immunity' 'complement deficiency' SubClassOf 'immunodeficiency disease' 'complement deficiency' SubClassOf 'inborn error of immunity' 'complement deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0003835 gastric cardia adenocarcinoma 'gastric cardia adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'gastric cardia adenocarcinoma' SubClassOf 'gastric cardia carcinoma' 'gastric cardia adenocarcinoma' SubClassOf 'gastric adenocarcinoma' 'gastric cardia adenocarcinoma' SubClassOf 'gastric cardia carcinoma' http://purl.obolibrary.org/obo/MONDO_0003837 TSH producing pituitary tumor 'TSH producing pituitary tumor' SubClassOf 'functioning pituitary gland adenoma' 'TSH producing pituitary tumor' SubClassOf 'functioning pituitary gland adenoma' http://purl.obolibrary.org/obo/MONDO_0003842 childhood cerebellar astrocytic neoplasm 'childhood cerebellar astrocytic neoplasm' SubClassOf 'cerebellar astrocytoma' 'childhood cerebellar astrocytic neoplasm' SubClassOf 'childhood cerebellar neoplasm' 'childhood cerebellar astrocytic neoplasm' SubClassOf 'childhood astrocytic tumor' 'childhood cerebellar astrocytic neoplasm' SubClassOf 'cerebellar astrocytoma' 'childhood cerebellar astrocytic neoplasm' SubClassOf 'childhood cerebellar neoplasm' 'childhood cerebellar astrocytic neoplasm' SubClassOf 'childhood astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0003843 cerebral hemisphere lipoma 'cerebral hemisphere lipoma' SubClassOf 'benign neoplasm of cerebrum' 'cerebral hemisphere lipoma' SubClassOf 'central nervous system lipoma' 'cerebral hemisphere lipoma' SubClassOf 'benign neoplasm of cerebrum' 'cerebral hemisphere lipoma' SubClassOf 'central nervous system lipoma' http://purl.obolibrary.org/obo/MONDO_0003844 central nervous system lipoma 'central nervous system lipoma' SubClassOf 'central nervous system organ benign neoplasm' 'central nervous system lipoma' SubClassOf 'lipoma' 'central nervous system lipoma' SubClassOf 'central nervous system organ benign neoplasm' 'central nervous system lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0003840 epicardium lipoma 'epicardium lipoma' SubClassOf 'heart lipoma' 'epicardium lipoma' SubClassOf 'benign neoplasm of epicardium' 'epicardium lipoma' SubClassOf 'heart lipoma' 'epicardium lipoma' SubClassOf 'benign neoplasm of epicardium' http://purl.obolibrary.org/obo/MONDO_0003841 heart lipoma 'heart lipoma' SubClassOf 'lipoma' 'heart lipoma' SubClassOf 'benign neoplasm of heart' 'heart lipoma' SubClassOf 'lipoma' 'heart lipoma' SubClassOf 'benign neoplasm of heart' http://purl.obolibrary.org/obo/MONDO_0003846 viral esophagitis 'viral esophagitis' SubClassOf 'esophagitis' 'viral esophagitis' SubClassOf 'esophagitis' http://purl.obolibrary.org/obo/MONDO_0003853 Bartholin gland adenocarcinoma 'Bartholin gland adenocarcinoma' SubClassOf 'vulvar adenocarcinoma' 'Bartholin gland adenocarcinoma' SubClassOf 'Bartholin Gland Carcinoma' 'Bartholin gland adenocarcinoma' SubClassOf 'vulvar adenocarcinoma' 'Bartholin gland adenocarcinoma' SubClassOf 'Bartholin Gland Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003856 adult malignant hemangiopericytoma 'adult malignant hemangiopericytoma' SubClassOf 'hemangiopericytoma, malignant' 'adult malignant hemangiopericytoma' SubClassOf 'hemangiopericytoma, malignant' http://purl.obolibrary.org/obo/MONDO_0003865 acral lentiginous melanoma 'acral lentiginous melanoma' SubClassOf 'cutaneous melanoma' 'acral lentiginous melanoma' SubClassOf 'cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0003866 liver extraskeletal osteosarcoma 'liver extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'liver extraskeletal osteosarcoma' SubClassOf 'liver sarcoma' 'liver extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'liver extraskeletal osteosarcoma' SubClassOf 'liver sarcoma' http://purl.obolibrary.org/obo/MONDO_0003861 vulvar eccrine adenocarcinoma 'vulvar eccrine adenocarcinoma' SubClassOf 'vulvar adenocarcinoma' 'vulvar eccrine adenocarcinoma' SubClassOf 'eccrine carcinoma' 'vulvar eccrine adenocarcinoma' SubClassOf 'vulvar adenocarcinoma' 'vulvar eccrine adenocarcinoma' SubClassOf 'eccrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0003869 childhood brain stem glioma 'childhood brain stem glioma' SubClassOf 'childhood brain stem neoplasm' 'childhood brain stem glioma' SubClassOf 'Brain Stem Glioma' 'childhood brain stem glioma' SubClassOf 'childhood brain stem neoplasm' 'childhood brain stem glioma' SubClassOf 'Brain Stem Glioma' http://purl.obolibrary.org/obo/MONDO_0003876 eyelid carcinoma 'eyelid carcinoma' SubClassOf 'skin carcinoma' 'eyelid carcinoma' SubClassOf 'eye carcinoma' 'eyelid carcinoma' SubClassOf 'eyelid cancer' 'eyelid carcinoma' SubClassOf 'skin carcinoma' 'eyelid carcinoma' SubClassOf 'eye carcinoma' 'eyelid carcinoma' SubClassOf 'eyelid cancer' http://purl.obolibrary.org/obo/MONDO_0003878 malignant choroid melanoma 'malignant choroid melanoma' SubClassOf 'Uveal Melanoma' 'malignant choroid melanoma' SubClassOf 'choroid cancer' 'malignant choroid melanoma' SubClassOf 'Uveal Melanoma' 'malignant choroid melanoma' SubClassOf 'choroid cancer' http://purl.obolibrary.org/obo/MONDO_0003874 ovarian serous surface papillary adenocarcinoma 'ovarian serous surface papillary adenocarcinoma' SubClassOf 'ovarian serous adenocarcinoma' 'ovarian serous surface papillary adenocarcinoma' SubClassOf 'ovarian papillary tumor' 'ovarian serous surface papillary adenocarcinoma' SubClassOf 'ovarian serous adenocarcinoma' 'ovarian serous surface papillary adenocarcinoma' SubClassOf 'ovarian papillary tumor' http://purl.obolibrary.org/obo/MONDO_0003870 childhood brainstem astrocytoma 'childhood brainstem astrocytoma' SubClassOf 'childhood brain stem glioma' 'childhood brainstem astrocytoma' SubClassOf 'brain stem astrocytic neoplasm' 'childhood brainstem astrocytoma' SubClassOf 'childhood brain stem glioma' 'childhood brainstem astrocytoma' SubClassOf 'brain stem astrocytic neoplasm' http://purl.obolibrary.org/obo/MONDO_0003886 mucinous cystadenofibroma 'mucinous cystadenofibroma' EquivalentTo 'mucinous adenofibroma' and 'cystadenofibroma' 'mucinous cystadenofibroma' SubClassOf 'cystadenofibroma' 'mucinous cystadenofibroma' SubClassOf 'mucinous adenofibroma' 'mucinous cystadenofibroma' EquivalentTo 'mucinous adenofibroma' and 'cystadenofibroma' 'mucinous cystadenofibroma' SubClassOf 'cystadenofibroma' 'mucinous cystadenofibroma' SubClassOf 'mucinous adenofibroma' http://purl.obolibrary.org/obo/MONDO_0003887 ovarian mucinous adenofibroma 'ovarian mucinous adenofibroma' EquivalentTo 'mucinous adenofibroma' and ('disease has location' some 'ovary') 'ovarian mucinous adenofibroma' SubClassOf 'mucinous adenofibroma' 'ovarian mucinous adenofibroma' SubClassOf 'Benign Ovarian Neoplasm' 'ovarian mucinous adenofibroma' EquivalentTo 'mucinous adenofibroma' and ('disease has location' some 'ovary') 'ovarian mucinous adenofibroma' SubClassOf 'mucinous adenofibroma' 'ovarian mucinous adenofibroma' SubClassOf 'Benign Ovarian Neoplasm' http://purl.obolibrary.org/obo/MONDO_0003882 central nervous system fibrosarcoma 'central nervous system fibrosarcoma' SubClassOf 'central nervous system sarcoma' 'central nervous system fibrosarcoma' SubClassOf 'fibrosarcoma' 'central nervous system fibrosarcoma' SubClassOf 'central nervous system sarcoma' 'central nervous system fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0003884 lipoma of the rectum 'lipoma of the rectum' SubClassOf 'benign neoplasm of rectum' 'lipoma of the rectum' SubClassOf 'colorectal lipoma' 'lipoma of the rectum' SubClassOf 'benign neoplasm of rectum' 'lipoma of the rectum' SubClassOf 'colorectal lipoma' http://purl.obolibrary.org/obo/MONDO_0003885 colorectal lipoma 'colorectal lipoma' SubClassOf 'benign neoplasm of large intestine' 'colorectal lipoma' SubClassOf 'lipoma' 'colorectal lipoma' SubClassOf 'benign neoplasm of large intestine' 'colorectal lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0003881 vulvar apocrine adenocarcinoma 'vulvar apocrine adenocarcinoma' SubClassOf 'apocrine adenocarcinoma' 'vulvar apocrine adenocarcinoma' SubClassOf 'vulvar adenocarcinoma' 'vulvar apocrine adenocarcinoma' SubClassOf 'apocrine adenocarcinoma' 'vulvar apocrine adenocarcinoma' SubClassOf 'vulvar adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'parkinsonian disorder' 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'disorder of manganese transport' 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'hypermanganesemia with dystonia' 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'parkinsonian disorder' 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'disorder of manganese transport' 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'hypermanganesemia with dystonia' http://purl.obolibrary.org/obo/MONDO_0013200 hypertrophic cardiomyopathy 15 'hypertrophic cardiomyopathy 15' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 15' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013203 corneal dystrophy, Fuchs endothelial, 3 'corneal dystrophy, Fuchs endothelial, 3' SubClassOf 'Fuchs' endothelial dystrophy' 'corneal dystrophy, Fuchs endothelial, 3' SubClassOf 'Fuchs' endothelial dystrophy' http://purl.obolibrary.org/obo/MONDO_0013204 corneal dystrophy, Fuchs endothelial, 4 'corneal dystrophy, Fuchs endothelial, 4' SubClassOf 'Fuchs' endothelial dystrophy' 'corneal dystrophy, Fuchs endothelial, 4' SubClassOf 'Fuchs' endothelial dystrophy' http://purl.obolibrary.org/obo/MONDO_0003897 breast epithelioid hemangioma 'breast epithelioid hemangioma' SubClassOf 'breast hemangioma' 'breast epithelioid hemangioma' SubClassOf 'epithelioid hemangioma' 'breast epithelioid hemangioma' SubClassOf 'breast hemangioma' 'breast epithelioid hemangioma' SubClassOf 'epithelioid hemangioma' http://purl.obolibrary.org/obo/MONDO_0003898 pediatric myxoid chondrosarcoma 'pediatric myxoid chondrosarcoma' SubClassOf 'childhood cancer' 'pediatric myxoid chondrosarcoma' SubClassOf 'myxoid chondrosarcoma' 'pediatric myxoid chondrosarcoma' SubClassOf 'myxoid chondrosarcoma' 'pediatric myxoid chondrosarcoma' SubClassOf 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0003899 adult myxoid chondrosarcoma 'adult myxoid chondrosarcoma' SubClassOf 'myxoid chondrosarcoma' 'adult myxoid chondrosarcoma' SubClassOf 'myxoid chondrosarcoma' http://purl.obolibrary.org/obo/MONDO_0003896 breast capillary hemangioma 'breast capillary hemangioma' SubClassOf 'capillary hemangioma' 'breast capillary hemangioma' SubClassOf 'breast hemangioma' 'breast capillary hemangioma' SubClassOf 'capillary hemangioma' 'breast capillary hemangioma' SubClassOf 'breast hemangioma' http://purl.obolibrary.org/obo/MONDO_0003890 infiltrating bladder urothelial carcinoma 'infiltrating bladder urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' 'infiltrating bladder urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003891 bladder signet ring cell adenocarcinoma 'bladder signet ring cell adenocarcinoma' SubClassOf 'signet ring cell carcinoma' 'bladder signet ring cell adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder signet ring cell adenocarcinoma' SubClassOf 'signet ring cell carcinoma' 'bladder signet ring cell adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003892 acinar lung adenocarcinoma 'acinar lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' 'acinar lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0013219 hypophosphatemic rickets, autosomal recessive, 2 'hypophosphatemic rickets, autosomal recessive, 2' SubClassOf 'abnormal mineralization disorder' 'hypophosphatemic rickets, autosomal recessive, 2' SubClassOf 'autosomal recessive hypophosphatemic rickets' 'hypophosphatemic rickets, autosomal recessive, 2' SubClassOf 'autosomal recessive hypophosphatemic rickets' 'hypophosphatemic rickets, autosomal recessive, 2' SubClassOf 'abnormal mineralization disorder' http://purl.obolibrary.org/obo/MONDO_0013212 Charcot-Marie-Tooth disease axonal type 2N 'Charcot-Marie-Tooth disease axonal type 2N' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2N' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0013211 dilated cardiomyopathy 1FF 'dilated cardiomyopathy 1FF' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1FF' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013214 bile acid malabsorption, primary, 1 'bile acid malabsorption, primary, 1' SubClassOf 'genetic disorder' 'bile acid malabsorption, primary, 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'spondylometaphyseal dysplasia' 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'severe spondylodysplastic dysplasia' 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'spondylometaphyseal dysplasia' 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'severe spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0013222 Miyoshi muscular dystrophy 3 'Miyoshi muscular dystrophy 3' SubClassOf 'Miyoshi myopathy' 'Miyoshi muscular dystrophy 3' SubClassOf 'Miyoshi myopathy' http://purl.obolibrary.org/obo/MONDO_0013227 congenital plasminogen activator inhibitor type 1 deficiency 'congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'coagulation protein disease' 'congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0013228 spondylo-megaepiphyseal-metaphyseal dysplasia 'spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'spondylo-megaepiphyseal-metaphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013225 congenital generalized lipodystrophy type 4 'congenital generalized lipodystrophy type 4' SubClassOf 'congenital generalized lipodystrophy' 'congenital generalized lipodystrophy type 4' SubClassOf 'congenital generalized lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0013226 combined immunodeficiency with faciooculoskeletal anomalies 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'inborn error of immunity' 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0013220 hemochromatosis type 2B 'hemochromatosis type 2B' SubClassOf 'hemochromatosis type 2' 'hemochromatosis type 2B' SubClassOf 'hemochromatosis type 2' http://purl.obolibrary.org/obo/MONDO_0008509 distal symphalangism 'distal symphalangism' SubClassOf 'symphalangism' 'distal symphalangism' SubClassOf 'genetic disorder' 'distal symphalangism' SubClassOf 'disorder of development or morphogenesis' 'distal symphalangism' SubClassOf 'genetic disorder' 'distal symphalangism' SubClassOf 'symphalangism' 'distal symphalangism' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008504 supravalvular aortic stenosis 'supravalvular aortic stenosis' SubClassOf 'aortic valve stenosis' 'supravalvular aortic stenosis' SubClassOf 'aortic valve stenosis' http://purl.obolibrary.org/obo/MONDO_0008503 Worster-Drought syndrome 'Worster-Drought syndrome' SubClassOf 'nervous system disease' 'Worster-Drought syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0008501 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'neurocutaneous syndrome' 'Sturge-Weber syndrome' SubClassOf 'eye disease' 'Sturge-Weber syndrome' SubClassOf 'neurocutaneous syndrome' 'Sturge-Weber syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0008519 multiple synostoses syndrome 1 'multiple synostoses syndrome 1' SubClassOf 'NOG-related symphalangism spectrum disorder' 'multiple synostoses syndrome 1' SubClassOf 'multiple synostoses syndrome' 'multiple synostoses syndrome 1' SubClassOf 'NOG-related symphalangism spectrum disorder' 'multiple synostoses syndrome 1' SubClassOf 'multiple synostoses syndrome' http://purl.obolibrary.org/obo/MONDO_0008517 syndactyly-polydactyly-ear lobe syndrome 'syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'syndromic disease' 'syndactyly-polydactyly-ear lobe syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008516 syndactyly type 5 'syndactyly type 5' SubClassOf 'polydactyly-syndactyly-triphalangism' 'syndactyly type 5' SubClassOf 'non-syndromic syndactyly' 'syndactyly type 5' SubClassOf 'polydactyly-syndactyly-triphalangism' 'syndactyly type 5' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0008515 syndactyly type 4 'syndactyly type 4' SubClassOf 'polydactyly-syndactyly-triphalangism' 'syndactyly type 4' SubClassOf 'non-syndromic syndactyly' 'syndactyly type 4' SubClassOf 'polydactyly-syndactyly-triphalangism' 'syndactyly type 4' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0008514 syndactyly type 3 'syndactyly type 3' SubClassOf 'non-syndromic syndactyly' 'syndactyly type 3' SubClassOf 'polydactyly-syndactyly-triphalangism' 'syndactyly type 3' SubClassOf 'non-syndromic syndactyly' 'syndactyly type 3' SubClassOf 'polydactyly-syndactyly-triphalangism' http://purl.obolibrary.org/obo/MONDO_0008513 synpolydactyly type 1 'synpolydactyly type 1' SubClassOf 'polydactyly-syndactyly-triphalangism' 'synpolydactyly type 1' SubClassOf 'non-syndromic synpolydactyly' 'synpolydactyly type 1' SubClassOf 'polydactyly-syndactyly-triphalangism' 'synpolydactyly type 1' SubClassOf 'non-syndromic synpolydactyly' http://purl.obolibrary.org/obo/MONDO_0008512 syndactyly type 1 'syndactyly type 1' SubClassOf 'polydactyly-syndactyly-triphalangism' 'syndactyly type 1' SubClassOf 'non-syndromic syndactyly' 'syndactyly type 1' SubClassOf 'partial duplication of the long arm of chromosome 2' 'syndactyly type 1' SubClassOf 'polydactyly-syndactyly-triphalangism' 'syndactyly type 1' SubClassOf 'non-syndromic syndactyly' 'syndactyly type 1' SubClassOf 'partial duplication of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0008511 proximal symphalangism 'proximal symphalangism' SubClassOf 'symphalangism' 'proximal symphalangism' SubClassOf 'autosomal dominant disease' 'proximal symphalangism' SubClassOf 'symphalangism' 'proximal symphalangism' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008510 symphalangism with multiple anomalies of hands and feet 'symphalangism with multiple anomalies of hands and feet' SubClassOf 'genetic disorder' 'symphalangism with multiple anomalies of hands and feet' SubClassOf 'symphalangism' 'symphalangism with multiple anomalies of hands and feet' SubClassOf 'genetic disorder' 'symphalangism with multiple anomalies of hands and feet' SubClassOf 'symphalangism' http://purl.obolibrary.org/obo/MONDO_0008523 Blau syndrome 'Blau syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Blau syndrome' SubClassOf 'sarcoidosis' 'Blau syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Blau syndrome' SubClassOf 'sarcoidosis' http://purl.obolibrary.org/obo/MONDO_0008521 tarsal-carpal coalition syndrome 'tarsal-carpal coalition syndrome' SubClassOf 'NOG-related symphalangism spectrum disorder' 'tarsal-carpal coalition syndrome' SubClassOf 'NOG-related symphalangism spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0008520 brachydactyly-elbow wrist dysplasia syndrome 'brachydactyly-elbow wrist dysplasia syndrome' SubClassOf 'skeletal dysplasia' 'brachydactyly-elbow wrist dysplasia syndrome' SubClassOf 'bone development disease' 'brachydactyly-elbow wrist dysplasia syndrome' SubClassOf 'skeletal dysplasia' 'brachydactyly-elbow wrist dysplasia syndrome' SubClassOf 'bone development disease' http://purl.obolibrary.org/obo/MONDO_0008537 telecanthus 'telecanthus' SubClassOf 'eyelid disease' 'telecanthus' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0008535 telangiectasia, hereditary hemorrhagic, type 1 'telangiectasia, hereditary hemorrhagic, type 1' SubClassOf 'hereditary hemorrhagic telangiectasia' 'telangiectasia, hereditary hemorrhagic, type 1' SubClassOf 'hereditary hemorrhagic telangiectasia' http://purl.obolibrary.org/obo/MONDO_0008533 teeth, supernumerary 'teeth, supernumerary' SubClassOf 'genetic disorder' 'teeth, supernumerary' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008547 thanatophoric dysplasia type 2 'thanatophoric dysplasia type 2' SubClassOf 'thanatophoric dysplasia' 'thanatophoric dysplasia type 2' SubClassOf 'thanatophoric dysplasia' http://purl.obolibrary.org/obo/MONDO_0008546 thanatophoric dysplasia type 1 'thanatophoric dysplasia type 1' SubClassOf 'thanatophoric dysplasia' 'thanatophoric dysplasia type 1' SubClassOf 'thanatophoric dysplasia' http://purl.obolibrary.org/obo/MONDO_0008544 tetramelic monodactyly 'tetramelic monodactyly' SubClassOf 'genetic disorder' 'tetramelic monodactyly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008540 extensor tendons of finger anomalies 'extensor tendons of finger anomalies' SubClassOf 'congenital limb malformation' 'extensor tendons of finger anomalies' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008559 thrombophilia due to thrombin defect 'thrombophilia due to thrombin defect' SubClassOf 'inherited thrombophilia' 'thrombophilia due to thrombin defect' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0008557 Paris-Trousseau thrombocytopenia 'Paris-Trousseau thrombocytopenia' SubClassOf 'partial deletion of the long arm of chromosome 11' 'Paris-Trousseau thrombocytopenia' SubClassOf 'alpha granule disease' 'Paris-Trousseau thrombocytopenia' SubClassOf 'partial deletion of the long arm of chromosome 11' 'Paris-Trousseau thrombocytopenia' SubClassOf 'alpha granule disease' http://purl.obolibrary.org/obo/MONDO_0008555 thrombocytopenia 2 'thrombocytopenia 2' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia 2' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0008553 platelet-type bleeding disorder 17 'platelet-type bleeding disorder 17' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 17' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0008551 thoracolaryngopelvic dysplasia 'thoracolaryngopelvic dysplasia' SubClassOf 'short rib dysplasia' 'thoracolaryngopelvic dysplasia' SubClassOf 'thoracic malformation' 'thoracolaryngopelvic dysplasia' SubClassOf 'short rib dysplasia' 'thoracolaryngopelvic dysplasia' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0008567 thyroid cancer, nonmedullary, 1 'thyroid cancer, nonmedullary, 1' SubClassOf 'familial nonmedullary thyroid carcinoma' 'thyroid cancer, nonmedullary, 1' SubClassOf 'familial nonmedullary thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0008565 familial thyroglossal duct cyst 'familial thyroglossal duct cyst' SubClassOf 'Thyroglossal Duct Cyst' 'familial thyroglossal duct cyst' SubClassOf 'cysts and fistulae of the face and oral cavity' 'familial thyroglossal duct cyst' SubClassOf 'Thyroglossal Duct Cyst' 'familial thyroglossal duct cyst' SubClassOf 'cysts and fistulae of the face and oral cavity' http://purl.obolibrary.org/obo/MONDO_0008563 thumb stiffness-brachydactyly-intellectual disability syndrome 'thumb stiffness-brachydactyly-intellectual disability syndrome' SubClassOf 'congenital limb malformation' 'thumb stiffness-brachydactyly-intellectual disability syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008562 thumb deformity-alopecia-pigmentation anomaly syndrome 'thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf 'disorder of development or morphogenesis' 'thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008560 thrombophilia due to activated protein C resistance 'thrombophilia due to activated protein C resistance' SubClassOf 'coagulation protein disease' 'thrombophilia due to activated protein C resistance' SubClassOf 'inherited thrombophilia' 'thrombophilia due to activated protein C resistance' SubClassOf 'coagulation protein disease' 'thrombophilia due to activated protein C resistance' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0008570 thyrotoxic periodic paralysis, susceptibility to, 1 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'predisposes towards' some 'thyrotoxic periodic paralysis' 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'thyrotoxic periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0008572 tibia, hypoplasia or aplasia of, with polydactyly 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'congenital limb malformation' 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'non-syndromic limb reduction defect' 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'dysostosis' 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'congenital limb malformation' 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'non-syndromic limb reduction defect' 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0033549 optic atrophy 12 'optic atrophy 12' SubClassOf 'hereditary optic atrophy' 'optic atrophy 12' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 'myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies' SubClassOf 'congenital myopathy' 'myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0033547 Li-Ghorbani-Weisz-Hubshman syndrome 'Li-Ghorbani-Weisz-Hubshman syndrome' SubClassOf 'genetic disorder' 'Li-Ghorbani-Weisz-Hubshman syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033546 neurodegeneration, infantile-onset, biotin-responsive 'neurodegeneration, infantile-onset, biotin-responsive' SubClassOf 'genetic disorder' 'neurodegeneration, infantile-onset, biotin-responsive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008588 hereditary geniospasm 'hereditary geniospasm' SubClassOf 'movement disorder' 'hereditary geniospasm' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0008582 tooth and nail syndrome 'tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008592 tricho-dento-osseous syndrome 'tricho-dento-osseous syndrome' SubClassOf 'skeletal dysplasia' 'tricho-dento-osseous syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'tricho-dento-osseous syndrome' SubClassOf 'skeletal dysplasia' 'tricho-dento-osseous syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0033545 mitochondrial DNA depletion syndrome 19 'mitochondrial DNA depletion syndrome 19' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 19' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0033544 Tolchin-Le Caignec syndrome 'Tolchin-Le Caignec syndrome' SubClassOf 'genetic disorder' 'Tolchin-Le Caignec syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive 'cone-rod synaptic disorder syndrome, congenital nonprogressive' SubClassOf 'genetic disorder' 'cone-rod synaptic disorder syndrome, congenital nonprogressive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033542 immunodeficiency 70 'immunodeficiency 70' SubClassOf 'immunodeficiency disease' 'immunodeficiency 70' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0033541 immunodeficiency 69 'immunodeficiency 69' SubClassOf 'immunodeficiency disease' 'immunodeficiency 69' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0033537 combined oxidative phosphorylation deficiency 47 'combined oxidative phosphorylation deficiency 47' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 47' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0008598 trichodysplasia-xeroderma syndrome 'trichodysplasia-xeroderma syndrome' SubClassOf 'hair anomaly' 'trichodysplasia-xeroderma syndrome' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0008597 trichorhinophalangeal syndrome, type III 'trichorhinophalangeal syndrome, type III' SubClassOf 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome, type III' SubClassOf 'trichorhinophalangeal syndrome' http://purl.obolibrary.org/obo/MONDO_0008593 trichomegaly 'trichomegaly' SubClassOf 'genetic disorder' 'trichomegaly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033534 combined oxidative phosphorylation deficiency 46 'combined oxidative phosphorylation deficiency 46' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 46' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033533 combined oxidative phosphorylation deficiency 45 'combined oxidative phosphorylation deficiency 45' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 45' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033532 Suleiman-El-Hattab syndrome 'Suleiman-El-Hattab syndrome' SubClassOf 'genetic disorder' 'Suleiman-El-Hattab syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033569 combined oxidative phosphorylation deficiency 49 'combined oxidative phosphorylation deficiency 49' SubClassOf 'genetic disorder' 'combined oxidative phosphorylation deficiency 49' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033566 combined oxidative phosphorylation deficiency 48 'combined oxidative phosphorylation deficiency 48' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 48' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033565 oocyte maturation defect 9 'oocyte maturation defect 9' SubClassOf 'inherited oocyte maturation defect' 'oocyte maturation defect 9' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0033564 oocyte maturation defect 8 'oocyte maturation defect 8' SubClassOf 'inherited oocyte maturation defect' 'oocyte maturation defect 8' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0033563 retinitis pigmentosa 90 'retinitis pigmentosa 90' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 90' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0033561 deeah syndrome 'deeah syndrome' SubClassOf 'genetic disorder' 'deeah syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033560 mitochondrial complex 1 deficiency, nuclear type 35 'mitochondrial complex 1 deficiency, nuclear type 35' SubClassOf 'genetic disorder' 'mitochondrial complex 1 deficiency, nuclear type 35' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033559 intellectual developmental disorder with seizures and language delay 'intellectual developmental disorder with seizures and language delay' SubClassOf 'genetic disorder' 'intellectual developmental disorder with seizures and language delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033558 autoinflammation, immune dysregulation, and eosinophilia 'autoinflammation, immune dysregulation, and eosinophilia' SubClassOf 'genetic disorder' 'autoinflammation, immune dysregulation, and eosinophilia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033557 hemophagocytic lymphohistiocytosis, familial, 6 'hemophagocytic lymphohistiocytosis, familial, 6' SubClassOf 'hereditary hemophagocytic lymphohistiocytosis' 'hemophagocytic lymphohistiocytosis, familial, 6' SubClassOf 'hereditary hemophagocytic lymphohistiocytosis' http://purl.obolibrary.org/obo/MONDO_0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 'muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15' SubClassOf 'DPM3-congenital disorder of glycosylation' 'muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15' SubClassOf 'DPM3-congenital disorder of glycosylation' 'muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0033555 immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia 'immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia' SubClassOf 'T-B- severe combined immunodeficiency' 'immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0033554 immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia 'immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia' SubClassOf 'T-B- severe combined immunodeficiency' 'immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0033551 immunodeficiency 72 with autoinflammation 'immunodeficiency 72 with autoinflammation' SubClassOf 'immunodeficiency disease' 'immunodeficiency 72 with autoinflammation' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0033570 combined oxidative phosphorylation deficiency 50 'combined oxidative phosphorylation deficiency 50' SubClassOf 'genetic disorder' 'combined oxidative phosphorylation deficiency 50' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033572 intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies 'intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies' SubClassOf 'ALG14-congenital disorder of glycosylation' 'intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies' SubClassOf 'ALG14-congenital disorder of glycosylation' http://purl.obolibrary.org/obo/GO_0071704 organic substance metabolic process 'organic substance metabolic process' SubClassOf 'metabolic process' 'organic substance metabolic process' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002914 uterine sarcoma 'uterine sarcoma' SubClassOf 'sarcoma' 'uterine sarcoma' SubClassOf 'uterine corpus cancer' 'uterine sarcoma' SubClassOf 'sarcoma' 'uterine sarcoma' SubClassOf 'uterine corpus cancer' http://www.ebi.ac.uk/efo/EFO_0002913 Cutaneous T-cell lymphoma 'Cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous lymphoma' 'Cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous lymphoma' http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma 'esophageal carcinoma' SubClassOf 'Digestive System Carcinoma' 'esophageal carcinoma' SubClassOf 'esophageal cancer' 'esophageal carcinoma' SubClassOf 'Digestive System Carcinoma' 'esophageal carcinoma' SubClassOf 'esophageal cancer' http://www.ebi.ac.uk/efo/EFO_0002918 rhabdomyosarcoma 'rhabdomyosarcoma' SubClassOf 'soft tissue sarcoma' 'rhabdomyosarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0002917 ovarian serous adenocarcinoma 'ovarian serous adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'ovarian serous adenocarcinoma' SubClassOf 'malignant ovarian serous tumor' 'ovarian serous adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'ovarian serous adenocarcinoma' SubClassOf 'malignant ovarian serous tumor' http://www.ebi.ac.uk/efo/EFO_0002919 uterine carcinoma 'uterine carcinoma' SubClassOf 'carcinoma' 'uterine carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0002938 hypopharyngeal carcinoma 'hypopharyngeal carcinoma' SubClassOf 'carcinoma of pharynx' 'hypopharyngeal carcinoma' SubClassOf 'hypopharynx cancer' 'hypopharyngeal carcinoma' SubClassOf 'carcinoma of pharynx' 'hypopharyngeal carcinoma' SubClassOf 'hypopharynx cancer' http://www.ebi.ac.uk/efo/EFO_0002939 medulloblastoma 'medulloblastoma' SubClassOf 'embryonal neoplasm' 'medulloblastoma' SubClassOf 'cerebellar neoplasm' 'medulloblastoma' SubClassOf 'embryonal neoplasm' 'medulloblastoma' SubClassOf 'cerebellar neoplasm' http://www.ebi.ac.uk/efo/EFO_0002921 vulvar carcinoma 'vulvar carcinoma' SubClassOf 'carcinoma' 'vulvar carcinoma' SubClassOf 'vulva cancer' 'vulvar carcinoma' SubClassOf 'carcinoma' 'vulvar carcinoma' SubClassOf 'vulva cancer' http://www.ebi.ac.uk/efo/EFO_0002920 vulva sarcoma 'vulva sarcoma' SubClassOf 'vulva cancer' 'vulva sarcoma' SubClassOf 'soft tissue sarcoma' 'vulva sarcoma' SubClassOf 'vulva cancer' 'vulva sarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0002945 familial cardiomyopathy 'familial cardiomyopathy' SubClassOf 'cardiomyopathy' 'familial cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008409 congenital myopathy 7A, myosin storage, autosomal dominant 'congenital myopathy 7A, myosin storage, autosomal dominant' SubClassOf 'scapuloperoneal myopathy' 'congenital myopathy 7A, myosin storage, autosomal dominant' SubClassOf 'congenital myopathy' 'congenital myopathy 7A, myosin storage, autosomal dominant' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'congenital myopathy 7A, myosin storage, autosomal dominant' SubClassOf 'scapuloperoneal myopathy' 'congenital myopathy 7A, myosin storage, autosomal dominant' SubClassOf 'congenital myopathy' 'congenital myopathy 7A, myosin storage, autosomal dominant' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' http://purl.obolibrary.org/obo/MONDO_0008407 neurogenic scapuloperoneal syndrome, Kaeser type 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'qualitative or quantitative defects of desmin' 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'qualitative or quantitative defects of desmin' http://purl.obolibrary.org/obo/MONDO_0008404 scalp-ear-nipple syndrome 'scalp-ear-nipple syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'scalp-ear-nipple syndrome' SubClassOf 'mixed dermis disorder' 'scalp-ear-nipple syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'scalp-ear-nipple syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'scalp-ear-nipple syndrome' SubClassOf 'mixed dermis disorder' 'scalp-ear-nipple syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008403 scalp defects-postaxial polydactyly syndrome 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'mixed dermis disorder' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'skeletal system disease' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'syndromic disease' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'mixed dermis disorder' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'skeletal system disease' 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008402 cleft palate-large ears-small head syndrome 'cleft palate-large ears-small head syndrome' SubClassOf 'genetic disorder' 'cleft palate-large ears-small head syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008419 scoliosis, isolated, susceptibility to, 1 'scoliosis, isolated, susceptibility to, 1' SubClassOf 'predisposes towards' some 'idiopathic scoliosis' 'scoliosis, isolated, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'idiopathic scoliosis' http://purl.obolibrary.org/obo/MONDO_0008416 palmoplantar keratoderma-sclerodactyly syndrome 'palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'palmoplantar keratoderma-sclerodactyly syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008412 intestinal schistosomiasis 'intestinal schistosomiasis' SubClassOf 'schistosomiasis' 'intestinal schistosomiasis' SubClassOf 'schistosomiasis' http://purl.obolibrary.org/obo/MONDO_0008411 ulnar-mammary syndrome 'ulnar-mammary syndrome' SubClassOf 'syndromic disease' 'ulnar-mammary syndrome' SubClassOf 'non-syndromic limb reduction defect' 'ulnar-mammary syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'ulnar-mammary syndrome' SubClassOf 'syndromic disease' 'ulnar-mammary syndrome' SubClassOf 'non-syndromic limb reduction defect' 'ulnar-mammary syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia 'Singleton-Merten dysplasia' SubClassOf 'type 1 interferonopathy of childhood' 'Singleton-Merten dysplasia' SubClassOf 'hereditary disorder of connective tissue' 'Singleton-Merten dysplasia' SubClassOf 'type 1 interferonopathy of childhood' 'Singleton-Merten dysplasia' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia 'septooptic dysplasia' SubClassOf 'combined pituitary hormone deficiencies, genetic form' 'septooptic dysplasia' SubClassOf 'autosomal genetic disease' 'septooptic dysplasia' SubClassOf 'syndromic disease' 'septooptic dysplasia' SubClassOf 'combined pituitary hormone deficiencies, genetic form' 'septooptic dysplasia' SubClassOf 'autosomal genetic disease' 'septooptic dysplasia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008426 Shprintzen-Goldberg syndrome 'Shprintzen-Goldberg syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Shprintzen-Goldberg syndrome' SubClassOf 'syndromic craniosynostosis' 'Shprintzen-Goldberg syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Shprintzen-Goldberg syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Shprintzen-Goldberg syndrome' SubClassOf 'syndromic craniosynostosis' 'Shprintzen-Goldberg syndrome' SubClassOf 'Marfan and Marfan-related disorder' http://purl.obolibrary.org/obo/MONDO_0008425 omphalocele syndrome, Shprintzen-Goldberg type 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'omphalocele syndrome, Shprintzen-Goldberg type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008439 spastic paraplegia-epilepsy-intellectual disability syndrome 'spastic paraplegia-epilepsy-intellectual disability syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' 'spastic paraplegia-epilepsy-intellectual disability syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008438 hereditary spastic paraplegia 4 'hereditary spastic paraplegia 4' SubClassOf 'SPAST-related motor disorder' 'hereditary spastic paraplegia 4' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 4' SubClassOf 'SPAST-related motor disorder' 'hereditary spastic paraplegia 4' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008437 hereditary spastic paraplegia 3A 'hereditary spastic paraplegia 3A' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 3A' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008434 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Smith-Magenis syndrome' SubClassOf 'syndromic intellectual disability' 'Smith-Magenis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Magenis syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 'Smith-Magenis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Magenis syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome 'delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008443 spastic paraplegia-precocious puberty syndrome 'spastic paraplegia-precocious puberty syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' 'spastic paraplegia-precocious puberty syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008442 spastic paraplegia-neuropathy-poikiloderma syndrome 'spastic paraplegia-neuropathy-poikiloderma syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' 'spastic paraplegia-neuropathy-poikiloderma syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008440 spastic paraplegia-nephritis-deafness syndrome 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008458 spinocerebellar ataxia type 2 'spinocerebellar ataxia type 2' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 2' SubClassOf 'Huntington disease-like syndrome' 'spinocerebellar ataxia type 2' SubClassOf 'familial amyotrophic lateral sclerosis' 'spinocerebellar ataxia type 2' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 2' SubClassOf 'Huntington disease-like syndrome' 'spinocerebellar ataxia type 2' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0008457 spinocerebellar ataxia type 6 'spinocerebellar ataxia type 6' SubClassOf 'CACNA1A-related complex neurodevelopmental disorder' 'spinocerebellar ataxia type 6' SubClassOf 'autosomal dominant cerebellar ataxia type III' 'spinocerebellar ataxia type 6' SubClassOf 'CACNA1A-related complex neurodevelopmental disorder' 'spinocerebellar ataxia type 6' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'spinal muscular atrophy' 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0008452 spinal muscular atrophy, facioscapulohumeral type 'spinal muscular atrophy, facioscapulohumeral type' SubClassOf 'spinal muscular atrophy' 'spinal muscular atrophy, facioscapulohumeral type' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 'neuronopathy, distal hereditary motor, autosomal dominant 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'neuronopathy, distal hereditary motor, autosomal dominant 1' SubClassOf 'Charcot-Marie-Tooth disease' 'neuronopathy, distal hereditary motor, autosomal dominant 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'neuronopathy, distal hereditary motor, autosomal dominant 1' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0008460 splenogonadal fusion-limb defects-micrognathia syndrome 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'genetic disorder' 'splenogonadal fusion-limb defects-micrognathia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome 'spondyloepimetaphyseal dysplasia-hypotrichosis syndrome' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia-hypotrichosis syndrome' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008467 Czeizel-Losonci syndrome 'Czeizel-Losonci syndrome' SubClassOf 'syndromic disease' 'Czeizel-Losonci syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Czeizel-Losonci syndrome' SubClassOf 'syndromic disease' 'Czeizel-Losonci syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008466 Karsch-Neugebauer syndrome 'Karsch-Neugebauer syndrome' SubClassOf 'genetic disorder' 'Karsch-Neugebauer syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008465 Patterson-Stevenson-Fontaine syndrome 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'acrofacial dysostosis' 'Patterson-Stevenson-Fontaine syndrome' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0008471 spondyloepiphyseal dysplasia congenita 'spondyloepiphyseal dysplasia congenita' SubClassOf 'type 2 collagenopathy' 'spondyloepiphyseal dysplasia congenita' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia congenita' SubClassOf 'type 2 collagenopathy' 'spondyloepiphyseal dysplasia congenita' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008479 spondylometaphyseal dysplasia, 'corner fracture' type 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'type 2 collagenopathy' 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'type 2 collagenopathy' 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008478 spondylometaphyseal dysplasia, Schmidt type 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'type 2 collagenopathy' 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'TRPV4-related bone disorder' 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'TRPV4-related bone disorder' 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008476 spondyloepimetaphyseal dysplasia, Strudwick type 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondylometaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'type 2 collagenopathy' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondylometaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0008474 spondyloepiphyseal dysplasia tarda, autosomal dominant 'spondyloepiphyseal dysplasia tarda, autosomal dominant' SubClassOf 'spondyloepiphyseal dysplasia tarda' 'spondyloepiphyseal dysplasia tarda, autosomal dominant' SubClassOf 'spondyloepiphyseal dysplasia tarda' http://purl.obolibrary.org/obo/MONDO_0008473 spondyloepimetaphyseal dysplasia, Maroteaux type 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'TRPV4-related bone disorder' 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'TRPV4-related bone disorder' 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008472 spondyloepiphyseal dysplasia, MacDermot type 'spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008488 holoprosencephaly-radial heart renal anomalies syndrome 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008486 steatocystoma multiplex-natal teeth syndrome 'steatocystoma multiplex-natal teeth syndrome' SubClassOf 'disorder of development or morphogenesis' 'steatocystoma multiplex-natal teeth syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008485 sebocystomatosis 'sebocystomatosis' SubClassOf 'sebaceous gland disease' 'sebocystomatosis' SubClassOf 'sebaceous gland disease' http://purl.obolibrary.org/obo/MONDO_0008484 stapes ankylosis with broad thumbs and toes 'stapes ankylosis with broad thumbs and toes' SubClassOf 'NOG-related symphalangism spectrum disorder' 'stapes ankylosis with broad thumbs and toes' SubClassOf 'NOG-related symphalangism spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0008483 stuttering, familial persistent, 1 'stuttering, familial persistent, 1' SubClassOf 'stutter disorder' 'stuttering, familial persistent, 1' SubClassOf 'stutter disorder' http://purl.obolibrary.org/obo/MONDO_0008493 overhydrated hereditary stomatocytosis 'overhydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' 'overhydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'otospondylomegaepiphyseal dysplasia' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'otospondylomegaepiphyseal dysplasia' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008499 short stature-wormian bones-dextrocardia syndrome 'short stature-wormian bones-dextrocardia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'short stature-wormian bones-dextrocardia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008498 strabismus, susceptibility to 'strabismus, susceptibility to' SubClassOf 'inherited disease susceptibility' 'strabismus, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0008497 Stormorken syndrome 'Stormorken syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'Stormorken syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0033482 spinocerebellar ataxia 47 'spinocerebellar ataxia 47' SubClassOf 'autosomal dominant cerebellar ataxia' 'spinocerebellar ataxia 47' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0200000 uterine ligament adenosarcoma 'uterine ligament adenosarcoma' SubClassOf 'uterine ligament cancer' 'uterine ligament adenosarcoma' SubClassOf 'uterine ligament cancer' http://purl.obolibrary.org/obo/GO_0046655 folic acid metabolic process 'folic acid metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0023910 Martsolf syndrome 'Martsolf syndrome' SubClassOf 'RAB18 deficiency' 'Martsolf syndrome' SubClassOf 'RAB18 deficiency' http://purl.obolibrary.org/obo/MONDO_0008306 ABri amyloidosis 'ABri amyloidosis' SubClassOf 'cerebral amyloid angiopathy' 'ABri amyloidosis' SubClassOf 'ITM2B amyloidosis' 'ABri amyloidosis' SubClassOf 'cerebral amyloid angiopathy' 'ABri amyloidosis' SubClassOf 'ITM2B amyloidosis' http://purl.obolibrary.org/obo/MONDO_0008305 Currarino triad 'Currarino triad' SubClassOf 'dysostosis' 'Currarino triad' SubClassOf 'syndromic disease' 'Currarino triad' SubClassOf 'reproductive system disease' 'Currarino triad' SubClassOf 'skeletal dysplasia' 'Currarino triad' SubClassOf 'dysostosis' 'Currarino triad' SubClassOf 'syndromic disease' 'Currarino triad' SubClassOf 'reproductive system disease' 'Currarino triad' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008303 familial male-limited precocious puberty 'familial male-limited precocious puberty' SubClassOf 'peripheral precocious puberty' 'familial male-limited precocious puberty' SubClassOf 'peripheral precocious puberty' http://purl.obolibrary.org/obo/MONDO_0008301 Guttmacher syndrome 'Guttmacher syndrome' SubClassOf 'syndromic disease' 'Guttmacher syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008300 Prader-Willi syndrome 'Prader-Willi syndrome' SubClassOf 'syndromic disease' 'Prader-Willi syndrome' SubClassOf 'chromosomal disorder' 'Prader-Willi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi syndrome' SubClassOf 'complex neurodevelopmental disorder' 'Prader-Willi syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Prader-Willi syndrome' SubClassOf 'syndromic disease' 'Prader-Willi syndrome' SubClassOf 'chromosomal disorder' 'Prader-Willi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi syndrome' SubClassOf 'complex neurodevelopmental disorder' 'Prader-Willi syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0008318 Proteus syndrome 'Proteus syndrome' SubClassOf 'skeletal dysplasia' 'Proteus syndrome' SubClassOf 'syndromic disease' 'Proteus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus syndrome' SubClassOf 'overgrowth syndrome' 'Proteus syndrome' SubClassOf 'skeletal dysplasia' 'Proteus syndrome' SubClassOf 'syndromic disease' 'Proteus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer 'prostate cancer' SubClassOf 'male reproductive organ cancer' 'prostate cancer' SubClassOf 'prostate neoplasm' 'prostate cancer' SubClassOf 'male reproductive organ cancer' 'prostate cancer' SubClassOf 'prostate neoplasm' http://purl.obolibrary.org/obo/MONDO_0008312 autosomal dominant prognathism 'autosomal dominant prognathism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'autosomal dominant prognathism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008311 progeria-short stature-pigmented nevi syndrome 'progeria-short stature-pigmented nevi syndrome' SubClassOf 'syndromic disease' 'progeria-short stature-pigmented nevi syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0958184 epidermolytic hyperkeratosis 2 'epidermolytic hyperkeratosis 2' SubClassOf 'epidermolytic ichthyosis' 'epidermolytic hyperkeratosis 2' SubClassOf 'epidermolytic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0008310 Hutchinson-Gilford progeria syndrome 'Hutchinson-Gilford progeria syndrome' SubClassOf 'progeria' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'autosomal recessive disease' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'laminopathy' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'primary osteolysis' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'syndromic disease' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'progeria' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'autosomal recessive disease' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'laminopathy' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'primary osteolysis' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008329 autosomal dominant pseudohypoaldosteronism type 1 'autosomal dominant pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' 'autosomal dominant pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' http://purl.obolibrary.org/obo/MONDO_0023961 visceral neuropathy, familial 'visceral neuropathy, familial' SubClassOf 'genetic disorder' 'visceral neuropathy, familial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008323 Liddle syndrome 'Liddle syndrome' SubClassOf 'syndromic disease' 'Liddle syndrome' SubClassOf 'renal tubular transport disease' 'Liddle syndrome' SubClassOf 'syndromic disease' 'Liddle syndrome' SubClassOf 'renal tubular transport disease' http://purl.obolibrary.org/obo/MONDO_0008322 pseudoachondroplasia 'pseudoachondroplasia' SubClassOf 'skeletal dysplasia' 'pseudoachondroplasia' SubClassOf 'osteochondrodysplasia' 'pseudoachondroplasia' SubClassOf 'skeletal dysplasia' 'pseudoachondroplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0008339 antecubital pterygium syndrome 'antecubital pterygium syndrome' SubClassOf 'dermis disorder' 'antecubital pterygium syndrome' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'distal arthrogryposis' 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'distal arthrogryposis' 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' http://purl.obolibrary.org/obo/MONDO_0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome 'short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008332 platelet-type von Willebrand disease 'platelet-type von Willebrand disease' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type von Willebrand disease' SubClassOf 'hereditary von Willebrand disease' 'platelet-type von Willebrand disease' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type von Willebrand disease' SubClassOf 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0008343 pulmonary atresia with ventricular septal defect 'pulmonary atresia with ventricular septal defect' SubClassOf 'genetic disorder' 'pulmonary atresia with ventricular septal defect' SubClassOf 'conotruncal heart malformations' 'pulmonary atresia with ventricular septal defect' SubClassOf 'genetic disorder' 'pulmonary atresia with ventricular septal defect' SubClassOf 'conotruncal heart malformations' http://purl.obolibrary.org/obo/MONDO_0008341 ptosis-strabismus-ectopic pupils syndrome 'ptosis-strabismus-ectopic pupils syndrome' SubClassOf 'syndromic disease' 'ptosis-strabismus-ectopic pupils syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008340 ptosis, hereditary congenital, 1 'ptosis, hereditary congenital, 1' SubClassOf 'ptosis' 'ptosis, hereditary congenital, 1' SubClassOf 'ptosis' http://purl.obolibrary.org/obo/MONDO_0008359 radio-renal syndrome 'radio-renal syndrome' SubClassOf 'genetic disorder' 'radio-renal syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008355 pyloric stenosis, infantile hypertrophic, 1 'pyloric stenosis, infantile hypertrophic, 1' SubClassOf 'inherited hypertrophic pyloric stenosis' 'pyloric stenosis, infantile hypertrophic, 1' SubClassOf 'inherited hypertrophic pyloric stenosis' http://purl.obolibrary.org/obo/MONDO_0008369 proximal renal tubular acidosis 'proximal renal tubular acidosis' SubClassOf 'renal tubular acidosis' 'proximal renal tubular acidosis' SubClassOf 'renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis 'autosomal dominant distal renal tubular acidosis' SubClassOf 'distal renal tubular acidosis' 'autosomal dominant distal renal tubular acidosis' SubClassOf 'distal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0008365 recombinant 8 syndrome 'recombinant 8 syndrome' SubClassOf 'genetic disorder' 'recombinant 8 syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008371 Dowling-Degos disease 'Dowling-Degos disease' SubClassOf 'disorder of fucoglycosan synthesis' 'Dowling-Degos disease' SubClassOf 'reticulate pigment disorder' 'Dowling-Degos disease' SubClassOf 'hyperpigmentation of the skin' 'Dowling-Degos disease' SubClassOf 'disorder of fucoglycosan synthesis' 'Dowling-Degos disease' SubClassOf 'reticulate pigment disorder' 'Dowling-Degos disease' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0008373 retinal arterial tortuosity 'retinal arterial tortuosity' SubClassOf 'arterial disorder' 'retinal arterial tortuosity' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0008382 retinoschisis, autosomal dominant 'retinoschisis, autosomal dominant' SubClassOf 'retinoschisis' 'retinoschisis, autosomal dominant' SubClassOf 'retinoschisis' http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma 'retinoblastoma' SubClassOf 'retinal cell cancer' 'retinoblastoma' SubClassOf 'retinal cell cancer' http://purl.obolibrary.org/obo/MONDO_0008389 autosomal dominant Robinow syndrome 'autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' 'autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' http://purl.obolibrary.org/obo/MONDO_0008388 ringed hair disease 'ringed hair disease' SubClassOf 'hair anomaly' 'ringed hair disease' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0008387 ring dermoid of cornea 'ring dermoid of cornea' SubClassOf 'eye neoplasm' 'ring dermoid of cornea' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/MONDO_0008386 Axenfeld-Rieger syndrome type 1 'Axenfeld-Rieger syndrome type 1' SubClassOf 'Axenfeld-Rieger syndrome' 'Axenfeld-Rieger syndrome type 1' SubClassOf 'Axenfeld-Rieger syndrome' http://purl.obolibrary.org/obo/MONDO_0008394 Silver-Russell syndrome 'Silver-Russell syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Silver-Russell syndrome' SubClassOf 'syndromic disease' 'Silver-Russell syndrome' SubClassOf 'chromosomal disorder' 'Silver-Russell syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Silver-Russell syndrome' SubClassOf 'syndromic disease' 'Silver-Russell syndrome' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0008393 Rubinstein-Taybi syndrome due to CREBBP mutations 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'Rubinstein-Taybi syndrome' 'Rubinstein-Taybi syndrome due to CREBBP mutations' SubClassOf 'Rubinstein-Taybi syndrome' http://purl.obolibrary.org/obo/MONDO_0008392 Roussy-Levy syndrome 'Roussy-Levy syndrome' SubClassOf 'genetic disorder' 'Roussy-Levy syndrome' SubClassOf 'syndromic disease' 'Roussy-Levy syndrome' SubClassOf 'genetic disorder' 'Roussy-Levy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008390 Rombo syndrome 'Rombo syndrome' SubClassOf 'genetic disorder' 'Rombo syndrome' SubClassOf 'integumentary system disease' 'Rombo syndrome' SubClassOf 'genetic disorder' 'Rombo syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0008397 aplasia of lacrimal and salivary glands 'aplasia of lacrimal and salivary glands' SubClassOf 'syndromic disease' 'aplasia of lacrimal and salivary glands' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008396 oculodental syndrome, Rutherfurd type 'oculodental syndrome, Rutherfurd type' SubClassOf 'disorder of development or morphogenesis' 'oculodental syndrome, Rutherfurd type' SubClassOf 'syndromic disease' 'oculodental syndrome, Rutherfurd type' SubClassOf 'disorder of development or morphogenesis' 'oculodental syndrome, Rutherfurd type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008395 Ruvalcaba syndrome 'Ruvalcaba syndrome' SubClassOf 'syndromic disease' 'Ruvalcaba syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0033361 developmental and epileptic encephalopathy, 52 'developmental and epileptic encephalopathy, 52' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 52' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0033368 developmental and epileptic encephalopathy, 59 'developmental and epileptic encephalopathy, 59' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 59' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0033364 developmental and epileptic encephalopathy, 55 'developmental and epileptic encephalopathy, 55' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 55' SubClassOf 'disorder of GPI anchor biosynthesis' 'developmental and epileptic encephalopathy, 55' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 55' SubClassOf 'disorder of GPI anchor biosynthesis' http://purl.obolibrary.org/obo/MONDO_0033363 developmental and epileptic encephalopathy, 54 'developmental and epileptic encephalopathy, 54' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 54' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0033352 neuropathy, congenital hypomelinating 'neuropathy, congenital hypomelinating' SubClassOf 'hereditary peripheral neuropathy' 'neuropathy, congenital hypomelinating' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0033371 developmental and epileptic encephalopathy, 62 'developmental and epileptic encephalopathy, 62' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 62' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0033370 developmental and epileptic encephalopathy, 61 'developmental and epileptic encephalopathy, 61' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 61' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0033374 developmental and epileptic encephalopathy, 65 'developmental and epileptic encephalopathy, 65' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 65' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0008209 Char syndrome 'Char syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Char syndrome' SubClassOf 'syndromic disease' 'Char syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Char syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008207 chondromalacia patellae 'chondromalacia patellae' SubClassOf 'skeletal dysplasia' 'chondromalacia patellae' SubClassOf 'chondromalacia' 'chondromalacia patellae' SubClassOf 'skeletal dysplasia' 'chondromalacia patellae' SubClassOf 'chondromalacia' http://purl.obolibrary.org/obo/MONDO_0008206 benign paroxysmal tonic upgaze of childhood with ataxia 'benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'movement disorder' 'benign paroxysmal tonic upgaze of childhood with ataxia' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0008205 patella aplasia/hypoplasia 'patella aplasia/hypoplasia' SubClassOf 'genetic disorder' 'patella aplasia/hypoplasia' SubClassOf 'dysostosis' 'patella aplasia/hypoplasia' SubClassOf 'genetic disorder' 'patella aplasia/hypoplasia' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome 'Perry syndrome' SubClassOf 'parkinsonian disorder' 'Perry syndrome' SubClassOf 'syndromic disease' 'Perry syndrome' SubClassOf 'parkinsonian disorder' 'Perry syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008218 Hailey-Hailey disease 'Hailey-Hailey disease' SubClassOf 'epidermal disease' 'Hailey-Hailey disease' SubClassOf 'pemphigus' 'Hailey-Hailey disease' SubClassOf 'epidermal disease' 'Hailey-Hailey disease' SubClassOf 'pemphigus' http://purl.obolibrary.org/obo/MONDO_0008217 pelvis-shoulder dysplasia 'pelvis-shoulder dysplasia' SubClassOf 'non-syndromic limb reduction defect' 'pelvis-shoulder dysplasia' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0008215 adult-onset autosomal dominant demyelinating leukodystrophy 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf 'laminopathy' 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf 'leukodystrophy' 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf 'partial trisomy of the long arm of chromosome 5' 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf 'laminopathy' 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf 'leukodystrophy' 'adult-onset autosomal dominant demyelinating leukodystrophy' SubClassOf 'partial trisomy of the long arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0008211 pseudoleprechaunism syndrome, Patterson type 'pseudoleprechaunism syndrome, Patterson type' SubClassOf 'adrenal gland disease' 'pseudoleprechaunism syndrome, Patterson type' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0008210 patterned macular dystrophy 1 'patterned macular dystrophy 1' SubClassOf 'patterned macular dystrophy' 'patterned macular dystrophy 1' SubClassOf 'patterned macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0023865 corneal infection 'corneal infection' SubClassOf 'keratitis' 'corneal infection' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0008227 peripheral dysostosis 'peripheral dysostosis' SubClassOf 'acromelic dysplasia' 'peripheral dysostosis' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008224 hyperkalemic periodic paralysis 'hyperkalemic periodic paralysis' SubClassOf 'SCN4A-related channelopathy' 'hyperkalemic periodic paralysis' SubClassOf 'SCN4A-related channelopathy' http://purl.obolibrary.org/obo/MONDO_0008223 hypokalemic periodic paralysis 'hypokalemic periodic paralysis' SubClassOf 'familial periodic paralysis' 'hypokalemic periodic paralysis' SubClassOf 'familial periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0008222 Andersen-Tawil syndrome 'Andersen-Tawil syndrome' SubClassOf 'muscular channelopathy' 'Andersen-Tawil syndrome' SubClassOf 'muscular channelopathy' http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency 'prolidase deficiency' SubClassOf 'inborn disorder of peptide metabolism' 'prolidase deficiency' SubClassOf 'inborn disorder of peptide metabolism' http://purl.obolibrary.org/obo/MONDO_0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'genetic disorder' 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008234 multiple endocrine neoplasia type 2A 'multiple endocrine neoplasia type 2A' SubClassOf 'autosomal dominant disease' 'multiple endocrine neoplasia type 2A' SubClassOf 'multiple endocrine neoplasia type 2' 'multiple endocrine neoplasia type 2A' SubClassOf 'autosomal dominant disease' 'multiple endocrine neoplasia type 2A' SubClassOf 'multiple endocrine neoplasia type 2' http://purl.obolibrary.org/obo/MONDO_0008231 Peyronie disease 'Peyronie disease' SubClassOf 'Superficial Fibromatosis' 'Peyronie disease' SubClassOf 'Superficial Fibromatosis' http://purl.obolibrary.org/obo/MONDO_0008248 pigmented purpuric eruption 'pigmented purpuric eruption' SubClassOf 'genetic disorder' 'pigmented purpuric eruption' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008247 Robin sequence-oligodactyly syndrome 'Robin sequence-oligodactyly syndrome' SubClassOf 'genetic disorder' 'Robin sequence-oligodactyly syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008246 pigmented paravenous retinochoroidal atrophy 'pigmented paravenous retinochoroidal atrophy' SubClassOf 'inherited retinal dystrophy' 'pigmented paravenous retinochoroidal atrophy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0008245 piebald trait-neurologic defects syndrome 'piebald trait-neurologic defects syndrome' SubClassOf 'hypopigmentation of the skin' 'piebald trait-neurologic defects syndrome' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0008244 piebaldism 'piebaldism' SubClassOf 'autosomal dominant disease' 'piebaldism' SubClassOf 'neurocristopathy' 'piebaldism' SubClassOf 'hypopigmentation of the skin' 'piebaldism' SubClassOf 'autosomal dominant disease' 'piebaldism' SubClassOf 'neurocristopathy' 'piebaldism' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0008251 familial pityriasis rubra pilaris 'familial pityriasis rubra pilaris' SubClassOf 'pityriasis rubra pilaris' 'familial pityriasis rubra pilaris' SubClassOf 'pityriasis rubra pilaris' http://purl.obolibrary.org/obo/MONDO_0008250 isolated growth hormone deficiency type II 'isolated growth hormone deficiency type II' SubClassOf 'isolated congenital growth hormone deficiency' 'isolated growth hormone deficiency type II' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0033204 ciliary dyskinesia, primary, 37 'ciliary dyskinesia, primary, 37' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 37' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0033201 hearing loss, autosomal recessive 57 'hearing loss, autosomal recessive 57' SubClassOf 'hearing loss, autosomal recessive' 'hearing loss, autosomal recessive 57' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0008259 familial spontaneous pneumothorax 'familial spontaneous pneumothorax' SubClassOf 'pneumothorax' 'familial spontaneous pneumothorax' SubClassOf 'pneumothorax' http://purl.obolibrary.org/obo/MONDO_0008262 Poland syndrome 'Poland syndrome' SubClassOf 'syndromic breast hypoplasia/aplasia' 'Poland syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Poland syndrome' SubClassOf 'syndromic disease' 'Poland syndrome' SubClassOf 'syndromic breast hypoplasia/aplasia' 'Poland syndrome' SubClassOf 'syndromic disease' 'Poland syndrome' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0008261 hereditary sclerosing poikiloderma, Weary type 'hereditary sclerosing poikiloderma, Weary type' SubClassOf 'hereditary poikiloderma' 'hereditary sclerosing poikiloderma, Weary type' SubClassOf 'hereditary poikiloderma' http://purl.obolibrary.org/obo/MONDO_0008260 Kindler syndrome 'Kindler syndrome' SubClassOf 'inherited epidermolysis bullosa' 'Kindler syndrome' SubClassOf 'inherited epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0008269 polydactyly of a biphalangeal thumb 'polydactyly of a biphalangeal thumb' SubClassOf 'polydactyly-syndactyly-triphalangism' 'polydactyly of a biphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' 'polydactyly of a biphalangeal thumb' SubClassOf 'polydactyly-syndactyly-triphalangism' 'polydactyly of a biphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0008268 polydactyly-myopia syndrome 'polydactyly-myopia syndrome' SubClassOf 'syndromic disease' 'polydactyly-myopia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008267 orofaciodigital syndrome V 'orofaciodigital syndrome V' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome V' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0008266 polydactyly, postaxial, type A1 'polydactyly, postaxial, type A1' SubClassOf 'postaxial polydactyly type A' 'polydactyly, postaxial, type A1' SubClassOf 'postaxial polydactyly type A' http://purl.obolibrary.org/obo/MONDO_0008265 polycystic liver disease 1 'polycystic liver disease 1' SubClassOf 'autosomal dominant polycystic liver disease' 'polycystic liver disease 1' SubClassOf 'autosomal dominant polycystic liver disease' http://purl.obolibrary.org/obo/MONDO_0008264 autosomal dominant medullary cystic kidney disease with or without hyperuricemia 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'familial cystic renal disease' 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0008272 polysyndactyly 4 'polysyndactyly 4' SubClassOf 'polydactyly-syndactyly-triphalangism' 'polysyndactyly 4' SubClassOf 'preaxial polydactyly of fingers' 'polysyndactyly 4' SubClassOf 'polydactyly-syndactyly-triphalangism' 'polysyndactyly 4' SubClassOf 'preaxial polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0008271 polydactyly of an index finger 'polydactyly of an index finger' SubClassOf 'preaxial polydactyly of fingers' 'polydactyly of an index finger' SubClassOf 'polydactyly-syndactyly-triphalangism' 'polydactyly of an index finger' SubClassOf 'preaxial polydactyly of fingers' 'polydactyly of an index finger' SubClassOf 'polydactyly-syndactyly-triphalangism' http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb 'polydactyly of a triphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' 'polydactyly of a triphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0008278 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'intestinal polyposis syndrome' 'juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0008277 stomach polyp 'stomach polyp' SubClassOf 'stomach disease' 'stomach polyp' SubClassOf 'stomach disease' http://purl.obolibrary.org/obo/MONDO_0008276 generalized juvenile polyposis/juvenile polyposis coli 'generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'juvenile polyposis syndrome' 'generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'autosomal dominant disease' 'generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'juvenile polyposis syndrome' 'generalized juvenile polyposis/juvenile polyposis coli' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008275 familial expansile osteolysis 'familial expansile osteolysis' SubClassOf 'primary osteolysis' 'familial expansile osteolysis' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0008274 polyostotic fibrous dysplasia 'polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://purl.obolibrary.org/obo/MONDO_0008283 Cronkhite-Canada syndrome 'Cronkhite-Canada syndrome' SubClassOf 'digestive system disease' 'Cronkhite-Canada syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Cronkhite-Canada syndrome' SubClassOf 'intestinal polyposis syndrome' 'Cronkhite-Canada syndrome' SubClassOf 'digestive system disease' 'Cronkhite-Canada syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Cronkhite-Canada syndrome' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'intestinal polyposis syndrome' 'Peutz-Jeghers syndrome' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0008289 brain small vessel disease 1 with or without ocular anomalies 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf 'familial porencephaly' 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf 'familial porencephaly' http://purl.obolibrary.org/obo/MONDO_0008287 Greig cephalopolysyndactyly syndrome 'Greig cephalopolysyndactyly syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Greig cephalopolysyndactyly syndrome' SubClassOf 'syndromic disease' 'Greig cephalopolysyndactyly syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Greig cephalopolysyndactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008286 crossed polysyndactyly 'crossed polysyndactyly' SubClassOf 'congenital limb malformation' 'crossed polysyndactyly' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008295 sporadic porphyria cutanea tarda 'sporadic porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' 'sporadic porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' http://purl.obolibrary.org/obo/MONDO_0008294 acute intermittent porphyria 'acute intermittent porphyria' SubClassOf 'inherited porphyria' 'acute intermittent porphyria' SubClassOf 'hepatic porphyria' 'acute intermittent porphyria' SubClassOf 'inherited porphyria' 'acute intermittent porphyria' SubClassOf 'hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0008292 punctate palmoplantar keratoderma type 2 'punctate palmoplantar keratoderma type 2' SubClassOf 'punctate palmoplantar keratoderma' 'punctate palmoplantar keratoderma type 2' SubClassOf 'punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008291 porokeratosis plantaris palmaris et disseminata 'porokeratosis plantaris palmaris et disseminata' SubClassOf 'porokeratosis' 'porokeratosis plantaris palmaris et disseminata' SubClassOf 'porokeratosis' http://purl.obolibrary.org/obo/MONDO_0008290 porokeratosis 1, Mibelli type 'porokeratosis 1, Mibelli type' SubClassOf 'porokeratosis of Mibelli' 'porokeratosis 1, Mibelli type' SubClassOf 'porokeratosis of Mibelli' http://purl.obolibrary.org/obo/MONDO_0008298 postaxial tetramelic oligodactyly 'postaxial tetramelic oligodactyly' SubClassOf 'genetic disorder' 'postaxial tetramelic oligodactyly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008297 variegate porphyria 'variegate porphyria' SubClassOf 'hepatic porphyria' 'variegate porphyria' SubClassOf 'inherited porphyria' 'variegate porphyria' SubClassOf 'inherited porphyria' 'variegate porphyria' SubClassOf 'hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0033280 nephrotic syndrome 16 'nephrotic syndrome 16' SubClassOf 'familial nephrotic syndrome' 'nephrotic syndrome 16' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0023726 mediastinal yolk sac tumor 'mediastinal yolk sac tumor' SubClassOf 'endodermal sinus tumor' 'mediastinal yolk sac tumor' SubClassOf 'Mediastinal Malignant Germ Cell Tumor' 'mediastinal yolk sac tumor' SubClassOf 'endodermal sinus tumor' 'mediastinal yolk sac tumor' SubClassOf 'Mediastinal Malignant Germ Cell Tumor' http://purl.obolibrary.org/obo/HP_0100731 Transverse facial cleft 'Transverse facial cleft' SubClassOf http://purl.obolibrary.org/obo/HP_0002006 http://purl.obolibrary.org/obo/MONDO_0008102 sick sinus syndrome 2, autosomal dominant 'sick sinus syndrome 2, autosomal dominant' SubClassOf 'familial sick sinus syndrome' 'sick sinus syndrome 2, autosomal dominant' SubClassOf 'familial sick sinus syndrome' http://purl.obolibrary.org/obo/MONDO_0008119 spinocerebellar ataxia type 1 'spinocerebellar ataxia type 1' SubClassOf 'Huntington disease-like syndrome' 'spinocerebellar ataxia type 1' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 1' SubClassOf 'Huntington disease-like syndrome' 'spinocerebellar ataxia type 1' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0008118 odontomatosis-aortae esophagus stenosis syndrome 'odontomatosis-aortae esophagus stenosis syndrome' SubClassOf 'disorder of development or morphogenesis' 'odontomatosis-aortae esophagus stenosis syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008116 oculopharyngeal muscular dystrophy 'oculopharyngeal muscular dystrophy' SubClassOf 'progressive muscular dystrophy' 'oculopharyngeal muscular dystrophy' SubClassOf 'myopathy of extraocular muscle' 'oculopharyngeal muscular dystrophy' SubClassOf 'progressive muscular dystrophy' 'oculopharyngeal muscular dystrophy' SubClassOf 'myopathy of extraocular muscle' http://purl.obolibrary.org/obo/MONDO_0008115 Feingold syndrome type 1 'Feingold syndrome type 1' SubClassOf 'Feingold syndrome' 'Feingold syndrome type 1' SubClassOf 'Feingold syndrome' http://purl.obolibrary.org/obo/MONDO_0008113 Schilbach-Rott syndrome 'Schilbach-Rott syndrome' SubClassOf 'syndromic disease' 'Schilbach-Rott syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Schilbach-Rott syndrome' SubClassOf 'syndromic disease' 'Schilbach-Rott syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008111 oculodentodigital dysplasia 'oculodentodigital dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'oculodentodigital dysplasia' SubClassOf 'skeletal dysplasia' 'oculodentodigital dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'oculodentodigital dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'oculodentodigital dysplasia' SubClassOf 'skeletal dysplasia' 'oculodentodigital dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008127 ophthalmomandibulomelic dysplasia 'ophthalmomandibulomelic dysplasia' SubClassOf 'genetic disorder' 'ophthalmomandibulomelic dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008123 autosomal dominant omodysplasia 'autosomal dominant omodysplasia' SubClassOf 'omodysplasia' 'autosomal dominant omodysplasia' SubClassOf 'omodysplasia' http://purl.obolibrary.org/obo/MONDO_0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 'ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ophthalmoplegia-intellectual disability-lingua scrotalis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008139 OSLAM syndrome 'OSLAM syndrome' SubClassOf 'bone neoplasm' 'OSLAM syndrome' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0008138 syndromic orbital border hypoplasia 'syndromic orbital border hypoplasia' SubClassOf 'syndromic disease' 'syndromic orbital border hypoplasia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008137 orofaciodigital syndrome X 'orofaciodigital syndrome X' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome X' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0008136 isolated optic nerve hypoplasia 'isolated optic nerve hypoplasia' SubClassOf 'hereditary optic neuropathy' 'isolated optic nerve hypoplasia' SubClassOf 'PAX6-related ocular dysgenesis' 'isolated optic nerve hypoplasia' SubClassOf 'hereditary optic neuropathy' 'isolated optic nerve hypoplasia' SubClassOf 'PAX6-related ocular dysgenesis' http://purl.obolibrary.org/obo/MONDO_0008135 optic atrophy 13 with retinal and foveal abnormalities 'optic atrophy 13 with retinal and foveal abnormalities' SubClassOf 'hereditary optic atrophy' 'optic atrophy 13 with retinal and foveal abnormalities' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0008134 autosomal dominant optic atrophy, classic form 'autosomal dominant optic atrophy, classic form' SubClassOf 'autosomal dominant optic atrophy' 'autosomal dominant optic atrophy, classic form' SubClassOf 'autosomal dominant optic atrophy' http://purl.obolibrary.org/obo/MONDO_0008133 optic atrophy 3 'optic atrophy 3' SubClassOf 'autosomal dominant optic atrophy' 'optic atrophy 3' SubClassOf 'autosomal dominant optic atrophy' http://purl.obolibrary.org/obo/MONDO_0023757 meralgia paresthetica 'meralgia paresthetica' SubClassOf 'nerve compression syndrome' 'meralgia paresthetica' SubClassOf 'nerve compression syndrome' http://purl.obolibrary.org/obo/MONDO_0008148 osteogenesis imperfecta type 4 'osteogenesis imperfecta type 4' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'osteogenesis imperfecta type 4' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0008147 osteogenesis imperfecta type 2 'osteogenesis imperfecta type 2' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'osteogenesis imperfecta type 2' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0008146 osteogenesis imperfecta type 1 'osteogenesis imperfecta type 1' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'osteogenesis imperfecta type 1' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0008145 Ollier disease 'Ollier disease' SubClassOf 'skeletal dysplasia' 'Ollier disease' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008142 Thiemann disease, familial form 'Thiemann disease, familial form' SubClassOf 'osteonecrosis of genetic origin' 'Thiemann disease, familial form' SubClassOf 'osteonecrosis of genetic origin' http://purl.obolibrary.org/obo/MONDO_0008152 multicentric carpo-tarsal osteolysis with or without nephropathy 'multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'primary osteolysis' 'multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0008151 gnathodiaphyseal dysplasia 'gnathodiaphyseal dysplasia' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'gnathodiaphyseal dysplasia' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0008150 osteoglophonic dwarfism 'osteoglophonic dwarfism' SubClassOf 'musculoskeletal system disease' 'osteoglophonic dwarfism' SubClassOf 'genetic disorder' 'osteoglophonic dwarfism' SubClassOf 'musculoskeletal system disease' 'osteoglophonic dwarfism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008158 dacryocystitis-osteopoikilosis syndrome 'dacryocystitis-osteopoikilosis syndrome' SubClassOf 'autosomal recessive disease' 'dacryocystitis-osteopoikilosis syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008157 Buschke-Ollendorff syndrome 'Buschke-Ollendorff syndrome' SubClassOf 'skeletal system disease' 'Buschke-Ollendorff syndrome' SubClassOf 'laminopathy' 'Buschke-Ollendorff syndrome' SubClassOf 'syndromic disease' 'Buschke-Ollendorff syndrome' SubClassOf 'skeletal system disease' 'Buschke-Ollendorff syndrome' SubClassOf 'laminopathy' 'Buschke-Ollendorff syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008155 osteomesopyknosis 'osteomesopyknosis' SubClassOf 'osteopetrosis' 'osteomesopyknosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0008153 progressive osseous heteroplasia 'progressive osseous heteroplasia' SubClassOf 'dermis disorder' 'progressive osseous heteroplasia' SubClassOf 'disorder of GNAS inactivation' 'progressive osseous heteroplasia' SubClassOf 'dermis disorder' 'progressive osseous heteroplasia' SubClassOf 'disorder of GNAS inactivation' http://purl.obolibrary.org/obo/MONDO_0008163 otofaciocervical syndrome 'otofaciocervical syndrome' SubClassOf 'mandibulofacial dysostosis' 'otofaciocervical syndrome' SubClassOf 'disorder of development or morphogenesis' 'otofaciocervical syndrome' SubClassOf 'disorder of development or morphogenesis' 'otofaciocervical syndrome' SubClassOf 'mandibulofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0008162 otitis media, susceptibility to 'otitis media, susceptibility to' SubClassOf 'predisposes towards' some 'Otitis media' 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Otitis media') 'otitis media, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Otitis media' 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Otitis media') http://purl.obolibrary.org/obo/MONDO_0008161 otodental syndrome 'otodental syndrome' SubClassOf 'disorder of development or morphogenesis' 'otodental syndrome' SubClassOf 'partial deletion of the long arm of chromosome 11' 'otodental syndrome' SubClassOf 'disorder of development or morphogenesis' 'otodental syndrome' SubClassOf 'partial deletion of the long arm of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0008165 southeast Asian ovalocytosis 'southeast Asian ovalocytosis' SubClassOf 'hereditary stomatocytosis' 'southeast Asian ovalocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0008174 pachyonychia congenita 2 'pachyonychia congenita 2' SubClassOf 'pachyonychia congenita' 'pachyonychia congenita 2' SubClassOf 'pachyonychia congenita' http://purl.obolibrary.org/obo/MONDO_0008170 ovarian cancer 'ovarian cancer' SubClassOf 'Genital neoplasm, female' 'ovarian cancer' SubClassOf 'ovarian neoplasm' 'ovarian cancer' SubClassOf 'Genital neoplasm, female' 'ovarian cancer' SubClassOf 'ovarian neoplasm' http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder 'paroxysmal extreme pain disorder' SubClassOf 'neurological pain disorder' 'paroxysmal extreme pain disorder' SubClassOf 'neurological pain disorder' http://purl.obolibrary.org/obo/MONDO_0008178 inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1' SubClassOf 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1' SubClassOf 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' http://purl.obolibrary.org/obo/MONDO_0008175 pacman dysplasia 'pacman dysplasia' SubClassOf 'primary osteolysis' 'pacman dysplasia' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0008185 hereditary chronic pancreatitis 'hereditary chronic pancreatitis' SubClassOf 'chronic pancreatitis' 'hereditary chronic pancreatitis' SubClassOf 'genetic disorder' 'hereditary chronic pancreatitis' SubClassOf 'chronic pancreatitis' 'hereditary chronic pancreatitis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008183 annular pancreas 'annular pancreas' SubClassOf 'pancreas disease' 'annular pancreas' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0008182 nasopalpebral lipoma-coloboma syndrome 'nasopalpebral lipoma-coloboma syndrome' SubClassOf 'syndromic disease' 'nasopalpebral lipoma-coloboma syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'nasopalpebral lipoma-coloboma syndrome' SubClassOf 'syndromic disease' 'nasopalpebral lipoma-coloboma syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008196 parastremmatic dwarfism 'parastremmatic dwarfism' SubClassOf 'TRPV4-related bone disorder' 'parastremmatic dwarfism' SubClassOf 'bent bone dysplasia' 'parastremmatic dwarfism' SubClassOf 'TRPV4-related bone disorder' 'parastremmatic dwarfism' SubClassOf 'bent bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg 'paramyotonia congenita of Von Eulenburg' SubClassOf 'myotonic syndrome' 'paramyotonia congenita of Von Eulenburg' SubClassOf 'myotonic syndrome' http://purl.obolibrary.org/obo/MONDO_0008192 paragangliomas 1 'paragangliomas 1' SubClassOf 'Paraganglioma' 'paragangliomas 1' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'paragangliomas 1' SubClassOf 'Paraganglioma' 'paragangliomas 1' SubClassOf 'hereditary pheochromocytoma-paraganglioma' http://purl.obolibrary.org/obo/MONDO_0008199 late-onset Parkinson disease 'late-onset Parkinson disease' SubClassOf 'Parkinson disease' 'late-onset Parkinson disease' SubClassOf 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0008198 parietal foramina with cleidocranial dysplasia 'parietal foramina with cleidocranial dysplasia' SubClassOf 'skeletal dysplasia' 'parietal foramina with cleidocranial dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008197 parietal foramina 1 'parietal foramina 1' SubClassOf 'parietal foramina' 'parietal foramina 1' SubClassOf 'parietal foramina' http://purl.obolibrary.org/obo/MONDO_0023603 hereditary disorder of connective tissue 'hereditary disorder of connective tissue' SubClassOf 'genetic disorder' 'hereditary disorder of connective tissue' SubClassOf 'connective tissue disease' 'hereditary disorder of connective tissue' SubClassOf 'genetic disorder' 'hereditary disorder of connective tissue' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/MONDO_0023619 lentigo maligna melanoma 'lentigo maligna melanoma' SubClassOf 'cutaneous melanoma' 'lentigo maligna melanoma' SubClassOf 'cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0008009 monilethrix 'monilethrix' SubClassOf 'autosomal dominant disease' 'monilethrix' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008008 MOMO syndrome 'MOMO syndrome' SubClassOf 'genetic disorder' 'MOMO syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008007 tooth ankylosis 'tooth ankylosis' SubClassOf 'tooth hard tissue disease' 'tooth ankylosis' SubClassOf 'ankylosis' 'tooth ankylosis' SubClassOf 'genetic disorder' 'tooth ankylosis' SubClassOf 'tooth hard tissue disease' 'tooth ankylosis' SubClassOf 'ankylosis' 'tooth ankylosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0023644 lip and oral cavity carcinoma 'lip and oral cavity carcinoma' SubClassOf 'head and neck carcinoma' 'lip and oral cavity carcinoma' SubClassOf 'head and neck carcinoma' http://purl.obolibrary.org/obo/MONDO_0008006 Mobius syndrome 'Mobius syndrome' SubClassOf 'syndromic disease' 'Mobius syndrome' SubClassOf 'nuclear oculomotor paralysis' 'Mobius syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Mobius syndrome' SubClassOf 'facial nerve disease' 'Mobius syndrome' SubClassOf 'syndromic disease' 'Mobius syndrome' SubClassOf 'nuclear oculomotor paralysis' 'Mobius syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Mobius syndrome' SubClassOf 'facial nerve disease' http://purl.obolibrary.org/obo/MONDO_0008005 cardiospondylocarpofacial syndrome 'cardiospondylocarpofacial syndrome' SubClassOf 'filamin-related bone disorder' 'cardiospondylocarpofacial syndrome' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0008004 familial mitral valve prolapse 'familial mitral valve prolapse' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' 'familial mitral valve prolapse' SubClassOf 'mitral valve prolapse' 'familial mitral valve prolapse' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' 'familial mitral valve prolapse' SubClassOf 'mitral valve prolapse' http://purl.obolibrary.org/obo/MONDO_0008003 autosomal dominant progressive external ophthalmoplegia 'autosomal dominant progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'autosomal dominant progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' http://purl.obolibrary.org/obo/MONDO_0008002 mirror movements 1 'mirror movements 1' SubClassOf 'mirror movements 1 and/or agenesis of the corpus callosum' 'mirror movements 1' SubClassOf 'mirror movements 1 and/or agenesis of the corpus callosum' http://purl.obolibrary.org/obo/MONDO_0008019 mullerian aplasia and hyperandrogenism 'mullerian aplasia and hyperandrogenism' SubClassOf 'partial bilateral aplasia of the mullerian ducts' 'mullerian aplasia and hyperandrogenism' SubClassOf 'partial bilateral aplasia of the mullerian ducts' http://purl.obolibrary.org/obo/MONDO_0008018 Muir-Torre syndrome 'Muir-Torre syndrome' SubClassOf 'hereditary nonpolyposis colon cancer' 'Muir-Torre syndrome' SubClassOf 'hereditary nonpolyposis colon cancer' http://purl.obolibrary.org/obo/MONDO_0008017 hereditary mucoepithelial dysplasia 'hereditary mucoepithelial dysplasia' SubClassOf 'skin disease' 'hereditary mucoepithelial dysplasia' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0008016 trismus-pseudocamptodactyly syndrome 'trismus-pseudocamptodactyly syndrome' SubClassOf 'distal arthrogryposis' 'trismus-pseudocamptodactyly syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0008013 chromosome 9p deletion syndrome 'chromosome 9p deletion syndrome' SubClassOf 'partial deletion of chromosome 9' 'chromosome 9p deletion syndrome' SubClassOf 'partial deletion of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0008029 Bethlem myopathy 'Bethlem myopathy' SubClassOf 'progressive muscular dystrophy' 'Bethlem myopathy' SubClassOf 'congenital myopathy' 'Bethlem myopathy' SubClassOf 'congenital muscular dystrophy' 'Bethlem myopathy' SubClassOf 'progressive muscular dystrophy' 'Bethlem myopathy' SubClassOf 'congenital myopathy' 'Bethlem myopathy' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 'autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' 'autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0008025 neuronopathy, distal hereditary motor, type 2A 'neuronopathy, distal hereditary motor, type 2A' SubClassOf 'distal hereditary motor neuropathy type 2' 'neuronopathy, distal hereditary motor, type 2A' SubClassOf 'distal hereditary motor neuropathy type 2' http://purl.obolibrary.org/obo/MONDO_0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'hereditary ataxia' 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'syndromic disease' 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'hereditary ataxia' 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008021 Cowden syndrome 1 'Cowden syndrome 1' SubClassOf 'Cowden disease' 'Cowden syndrome 1' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0008031 facioscapulohumeral muscular dystrophy 2 'facioscapulohumeral muscular dystrophy 2' SubClassOf 'facioscapulohumeral muscular dystrophy' 'facioscapulohumeral muscular dystrophy 2' SubClassOf 'facioscapulohumeral muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0023655 immunodeficiency 14b, autosomal recessive 'immunodeficiency 14b, autosomal recessive' SubClassOf 'immunodeficiency disease' 'immunodeficiency 14b, autosomal recessive' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0008038 ataxia-pancytopenia syndrome 'ataxia-pancytopenia syndrome' SubClassOf 'hereditary cerebellar ataxia' 'ataxia-pancytopenia syndrome' SubClassOf 'hereditary cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0008040 transient myeloproliferative syndrome 'transient myeloproliferative syndrome' SubClassOf 'chronic myeloproliferative disorder' 'transient myeloproliferative syndrome' SubClassOf 'chronic myeloproliferative disorder' http://purl.obolibrary.org/obo/MONDO_0023657 intellectual developmental disorder, autosomal dominant 65 'intellectual developmental disorder, autosomal dominant 65' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual developmental disorder, autosomal dominant 65' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0008048 autosomal dominant centronuclear myopathy 'autosomal dominant centronuclear myopathy' SubClassOf 'congenital structural myopathy' 'autosomal dominant centronuclear myopathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant centronuclear myopathy' SubClassOf 'centronuclear myopathy' 'autosomal dominant centronuclear myopathy' SubClassOf 'congenital structural myopathy' 'autosomal dominant centronuclear myopathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant centronuclear myopathy' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0008047 episodic ataxia type 1 'episodic ataxia type 1' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 1' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0008046 autosomal dominant myoglobinuria 'autosomal dominant myoglobinuria' SubClassOf 'hereditary myoglobinuria' 'autosomal dominant myoglobinuria' SubClassOf 'inborn errors of metabolism' 'autosomal dominant myoglobinuria' SubClassOf 'hereditary myoglobinuria' 'autosomal dominant myoglobinuria' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'movement disorder' 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'spinal muscular atrophy' 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'ASAH1-related sphingolipidosis' 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'spinal muscular atrophy' 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'movement disorder' 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'ASAH1-related sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0008043 myoclonus-cerebellar ataxia-deafness syndrome 'myoclonus-cerebellar ataxia-deafness syndrome' SubClassOf 'hereditary ataxia' 'myoclonus-cerebellar ataxia-deafness syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0008051 tubular aggregate myopathy 'tubular aggregate myopathy' SubClassOf 'congenital myopathy' 'tubular aggregate myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy 'MYH7-related skeletal myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'MYH7-related skeletal myopathy' SubClassOf 'congenital myopathy' 'MYH7-related skeletal myopathy' SubClassOf 'distal myopathy' 'MYH7-related skeletal myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'MYH7-related skeletal myopathy' SubClassOf 'congenital myopathy' 'MYH7-related skeletal myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0033006 Galloway-Mowat syndrome 2, X-linked 'Galloway-Mowat syndrome 2, X-linked' SubClassOf 'Galloway-Mowat syndrome' 'Galloway-Mowat syndrome 2, X-linked' SubClassOf 'Galloway-Mowat syndrome' http://purl.obolibrary.org/obo/MONDO_0008059 Naegeli-Franceschetti-Jadassohn syndrome 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'hyperpigmentation of the skin' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'hyperpigmentation of the skin' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008058 cylindrical spirals myopathy 'cylindrical spirals myopathy' SubClassOf 'congenital myopathy' 'cylindrical spirals myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0008057 Carney complex, type 1 'Carney complex, type 1' SubClassOf 'Carney complex' 'Carney complex, type 1' SubClassOf 'Carney complex' http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 'myotonic dystrophy type 1' SubClassOf 'myotonic dystrophy' 'myotonic dystrophy type 1' SubClassOf 'myotonic dystrophy' http://purl.obolibrary.org/obo/MONDO_0023670 Bardet-Biedl syndrome 20 'Bardet-Biedl syndrome 20' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 20' SubClassOf 'Bardet-Biedl syndrome' http://purl.obolibrary.org/obo/MONDO_0008061 nail-patella syndrome 'nail-patella syndrome' SubClassOf 'syndromic disease' 'nail-patella syndrome' SubClassOf 'dysostosis' 'nail-patella syndrome' SubClassOf 'autosomal dominant disease' 'nail-patella syndrome' SubClassOf 'syndromic disease' 'nail-patella syndrome' SubClassOf 'dysostosis' 'nail-patella syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008060 nonsyndromic congenital nail disorder 1 'nonsyndromic congenital nail disorder 1' SubClassOf 'inherited isolated nail anomaly' 'nonsyndromic congenital nail disorder 1' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0008075 schwannomatosis 'schwannomatosis' SubClassOf 'hyperpigmentation of the skin' 'schwannomatosis' SubClassOf 'neurofibromatosis' 'schwannomatosis' SubClassOf 'schwannoma' 'schwannomatosis' SubClassOf 'hyperpigmentation of the skin' 'schwannomatosis' SubClassOf 'neurofibromatosis' 'schwannomatosis' SubClassOf 'schwannoma' http://purl.obolibrary.org/obo/MONDO_0008073 familial juvenile hyperuricemic nephropathy type 1 'familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'inborn disorder of purine metabolism' 'familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'familial juvenile hyperuricemic nephropathy' 'familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'inborn disorder of purine metabolism' 'familial juvenile hyperuricemic nephropathy type 1' SubClassOf 'familial juvenile hyperuricemic nephropathy' http://purl.obolibrary.org/obo/MONDO_0008071 autosomal dominant progressive nephropathy with hypertension 'autosomal dominant progressive nephropathy with hypertension' SubClassOf 'kidney disease' 'autosomal dominant progressive nephropathy with hypertension' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0008070 nemaline myopathy 3 'nemaline myopathy 3' SubClassOf 'severe congenital nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'intermediate nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'typical nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'childhood-onset nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'alpha-actinopathy' 'nemaline myopathy 3' SubClassOf 'severe congenital nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'typical nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'intermediate nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'childhood-onset nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'alpha-actinopathy' http://purl.obolibrary.org/obo/MONDO_0023692 maple syrup urine disease type 1B 'maple syrup urine disease type 1B' SubClassOf 'maple syrup urine disease' 'maple syrup urine disease type 1B' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0023691 maple syrup urine disease type 1A 'maple syrup urine disease type 1A' SubClassOf 'maple syrup urine disease' 'maple syrup urine disease type 1A' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) 'ceroid lipofuscinosis, neuronal, 4 (Kufs type)' SubClassOf 'adult neuronal ceroid lipofuscinosis' 'ceroid lipofuscinosis, neuronal, 4 (Kufs type)' SubClassOf 'adult neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0008082 multiple endocrine neoplasia type 2B 'multiple endocrine neoplasia type 2B' SubClassOf 'multiple endocrine neoplasia type 2' 'multiple endocrine neoplasia type 2B' SubClassOf 'Malignant Urinary System Neoplasm' 'multiple endocrine neoplasia type 2B' SubClassOf 'autosomal dominant disease' 'multiple endocrine neoplasia type 2B' SubClassOf 'multiple endocrine neoplasia type 2' 'multiple endocrine neoplasia type 2B' SubClassOf 'Malignant Urinary System Neoplasm' 'multiple endocrine neoplasia type 2B' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0033014 erythrokeratodermia variabilis et progressiva 4 'erythrokeratodermia variabilis et progressiva 4' SubClassOf 'erythrokeratodermia variabilis' 'erythrokeratodermia variabilis et progressiva 4' SubClassOf 'erythrokeratodermia variabilis' http://purl.obolibrary.org/obo/MONDO_0008087 hereditary neuropathy with liability to pressure palsies 'hereditary neuropathy with liability to pressure palsies' SubClassOf 'hereditary peripheral neuropathy' 'hereditary neuropathy with liability to pressure palsies' SubClassOf 'chromosome 17p deletion' 'hereditary neuropathy with liability to pressure palsies' SubClassOf 'hereditary peripheral neuropathy' 'hereditary neuropathy with liability to pressure palsies' SubClassOf 'chromosome 17p deletion' http://purl.obolibrary.org/obo/MONDO_0008097 linear nevus sebaceous syndrome 'linear nevus sebaceous syndrome' SubClassOf 'hereditary skin disorder' 'linear nevus sebaceous syndrome' SubClassOf 'hamartoma' 'linear nevus sebaceous syndrome' SubClassOf 'palpebral nevus' 'linear nevus sebaceous syndrome' SubClassOf 'hereditary skin disorder' 'linear nevus sebaceous syndrome' SubClassOf 'hamartoma' 'linear nevus sebaceous syndrome' SubClassOf 'palpebral nevus' http://purl.obolibrary.org/obo/MONDO_0008094 familial multiple nevi flammei 'familial multiple nevi flammei' SubClassOf 'capillary malformation' 'familial multiple nevi flammei' SubClassOf 'vascular ectasia' 'familial multiple nevi flammei' SubClassOf 'skin vascular disease' 'familial multiple nevi flammei' SubClassOf 'capillary malformation' 'familial multiple nevi flammei' SubClassOf 'vascular ectasia' 'familial multiple nevi flammei' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0008093 nevus, epidermal 'nevus, epidermal' SubClassOf 'melanocytic nevus' 'nevus, epidermal' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0008092 hereditary neutrophilia 'hereditary neutrophilia' SubClassOf 'leukocyte disorder' 'hereditary neutrophilia' SubClassOf 'leukocyte disorder' http://purl.obolibrary.org/obo/MONDO_0008090 cyclic hematopoiesis 'cyclic hematopoiesis' SubClassOf 'constitutional neutropenia' 'cyclic hematopoiesis' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0033043 spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf 'leukodystrophy' 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf 'autosomal recessive spastic ataxia' 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf 'leukodystrophy' 'spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy' SubClassOf 'autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0008098 mesomelic dwarfism, Nievergelt type 'mesomelic dwarfism, Nievergelt type' SubClassOf 'skeletal dysplasia' 'mesomelic dwarfism, Nievergelt type' SubClassOf 'mesomelic dysplasia' 'mesomelic dwarfism, Nievergelt type' SubClassOf 'skeletal dysplasia' 'mesomelic dwarfism, Nievergelt type' SubClassOf 'mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0023557 infective vaginitis 'infective vaginitis' SubClassOf 'vaginitis' 'infective vaginitis' SubClassOf 'vaginitis' http://purl.obolibrary.org/obo/MONDO_0023599 mesomelic dysplasia 'mesomelic dysplasia' SubClassOf 'osteochondrodysplasia' 'mesomelic dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/GO_0046146 tetrahydrobiopterin metabolic process 'tetrahydrobiopterin metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/HP_0100629 Midline facial cleft 'Midline facial cleft' SubClassOf 'Abnormality of the face' 'Midline facial cleft' SubClassOf http://purl.obolibrary.org/obo/HP_0002006 http://purl.obolibrary.org/obo/MONDO_0023419 hyperprolinemia 'hyperprolinemia' SubClassOf 'inborn disorder of proline metabolism' 'hyperprolinemia' SubClassOf 'inborn disorder of proline metabolism' http://purl.obolibrary.org/obo/MONDO_0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome 'X-linked intellectual disability-hypotonia-movement disorder syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-hypotonia-movement disorder syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018702 Castleman-Kojima disease 'Castleman-Kojima disease' SubClassOf 'type II hypersensitivity reaction disease' 'Castleman-Kojima disease' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0018715 congenital hemangioma 'congenital hemangioma' SubClassOf 'hemangioma' 'congenital hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0018733 intellectual disability syndrome due to a DYRK1A point mutation 'intellectual disability syndrome due to a DYRK1A point mutation' SubClassOf 'DYRK1A-related intellectual disability syndrome' 'intellectual disability syndrome due to a DYRK1A point mutation' SubClassOf 'DYRK1A-related intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0018734 verrucous hemangioma 'verrucous hemangioma' SubClassOf 'skin hemangioma' 'verrucous hemangioma' SubClassOf 'skin hemangioma' http://purl.obolibrary.org/obo/MONDO_0004107 splenic manifestation of leukemia 'splenic manifestation of leukemia' SubClassOf 'leukemia' 'splenic manifestation of leukemia' SubClassOf 'spleen cancer' 'splenic manifestation of leukemia' SubClassOf 'leukemia' 'splenic manifestation of leukemia' SubClassOf 'spleen cancer' http://purl.obolibrary.org/obo/MONDO_0004105 childhood epithelioid sarcoma 'childhood epithelioid sarcoma' SubClassOf 'epithelioid sarcoma' 'childhood epithelioid sarcoma' SubClassOf 'epithelioid sarcoma' http://purl.obolibrary.org/obo/MONDO_0004104 splenic manifestation of hairy cell leukemia 'splenic manifestation of hairy cell leukemia' SubClassOf 'hairy cell leukemia' 'splenic manifestation of hairy cell leukemia' SubClassOf 'splenic manifestation of leukemia' 'splenic manifestation of hairy cell leukemia' SubClassOf 'hairy cell leukemia' 'splenic manifestation of hairy cell leukemia' SubClassOf 'splenic manifestation of leukemia' http://purl.obolibrary.org/obo/MONDO_0018749 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 'hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' 'hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0018744 oligodendroglial tumor 'oligodendroglial tumor' SubClassOf 'malignant glioma' 'oligodendroglial tumor' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0018740 drug-induced methemoglobinemia 'drug-induced methemoglobinemia' SubClassOf 'methemoglobinemia' 'drug-induced methemoglobinemia' SubClassOf 'methemoglobinemia' http://purl.obolibrary.org/obo/MONDO_0004117 ampulla of vater small cell neuroendocrine carcinoma 'ampulla of vater small cell neuroendocrine carcinoma' SubClassOf 'Ampulla of Vater Carcinoma' 'ampulla of vater small cell neuroendocrine carcinoma' SubClassOf 'small cell carcinoma' 'ampulla of vater small cell neuroendocrine carcinoma' SubClassOf 'Ampulla of Vater Carcinoma' 'ampulla of vater small cell neuroendocrine carcinoma' SubClassOf 'small cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004116 esophageal small cell neuroendocrine carcinoma 'esophageal small cell neuroendocrine carcinoma' SubClassOf 'esophageal carcinoma' 'esophageal small cell neuroendocrine carcinoma' SubClassOf 'small cell carcinoma' 'esophageal small cell neuroendocrine carcinoma' SubClassOf 'esophageal carcinoma' 'esophageal small cell neuroendocrine carcinoma' SubClassOf 'small cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004110 refractory hairy cell leukemia 'refractory hairy cell leukemia' SubClassOf 'refractory hematologic cancer' 'refractory hairy cell leukemia' SubClassOf 'hairy cell leukemia' 'refractory hairy cell leukemia' SubClassOf 'refractory hematologic cancer' 'refractory hairy cell leukemia' SubClassOf 'hairy cell leukemia' http://purl.obolibrary.org/obo/MONDO_0004111 refractory hematologic cancer 'refractory hematologic cancer' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'refractory hematologic cancer' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0018752 exercise-induced malignant hyperthermia 'exercise-induced malignant hyperthermia' SubClassOf 'nervous system disease' 'exercise-induced malignant hyperthermia' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0004125 rectum leiomyoma 'rectum leiomyoma' SubClassOf 'colorectal leiomyoma' 'rectum leiomyoma' SubClassOf 'benign neoplasm of rectum' 'rectum leiomyoma' SubClassOf 'colorectal leiomyoma' 'rectum leiomyoma' SubClassOf 'benign neoplasm of rectum' http://purl.obolibrary.org/obo/MONDO_0004126 thyroiditis 'thyroiditis' SubClassOf 'thyroid disease' 'thyroiditis' SubClassOf 'inflammatory disease' 'thyroiditis' SubClassOf 'thyroid disease' 'thyroiditis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0004120 Bartholin gland small cell carcinoma 'Bartholin gland small cell carcinoma' SubClassOf 'small cell carcinoma' 'Bartholin gland small cell carcinoma' SubClassOf 'Bartholin Gland Carcinoma' 'Bartholin gland small cell carcinoma' SubClassOf 'small cell carcinoma' 'Bartholin gland small cell carcinoma' SubClassOf 'Bartholin Gland Carcinoma' http://purl.obolibrary.org/obo/MONDO_0018768 familial cold autoinflammatory syndrome 'familial cold autoinflammatory syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' 'familial cold autoinflammatory syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' http://purl.obolibrary.org/obo/MONDO_0018762 non-acquired combined pituitary hormone deficiency 'non-acquired combined pituitary hormone deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' 'non-acquired combined pituitary hormone deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0018764 microcephalic primordial dwarfism due to RTTN deficiency 'microcephalic primordial dwarfism due to RTTN deficiency' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic primordial dwarfism due to RTTN deficiency' SubClassOf 'syndromic disease' 'microcephalic primordial dwarfism due to RTTN deficiency' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic primordial dwarfism due to RTTN deficiency' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018763 tubulinopathy-associated dysgyria 'tubulinopathy-associated dysgyria' SubClassOf 'tubulinopathy' 'tubulinopathy-associated dysgyria' SubClassOf 'central nervous system malformation' 'tubulinopathy-associated dysgyria' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'tubulinopathy-associated dysgyria' SubClassOf 'tubulinopathy' 'tubulinopathy-associated dysgyria' SubClassOf 'central nervous system malformation' 'tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018760 DeSanto-Shinawi syndrome 'DeSanto-Shinawi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'DeSanto-Shinawi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0004139 normocytic anemia 'normocytic anemia' SubClassOf 'anemia' 'normocytic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0004132 anal canal squamous cell carcinoma 'anal canal squamous cell carcinoma' SubClassOf 'anal canal carcinoma' 'anal canal squamous cell carcinoma' SubClassOf 'Anal Squamous Cell Carcinoma' 'anal canal squamous cell carcinoma' SubClassOf 'anal canal carcinoma' 'anal canal squamous cell carcinoma' SubClassOf 'Anal Squamous Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0004131 anal verrucous carcinoma 'anal verrucous carcinoma' SubClassOf 'Anal Squamous Cell Carcinoma' 'anal verrucous carcinoma' SubClassOf 'Anal Squamous Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0004130 anus basaloid carcinoma 'anus basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'anus basaloid carcinoma' SubClassOf 'Anal Squamous Cell Carcinoma' 'anus basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'anus basaloid carcinoma' SubClassOf 'Anal Squamous Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0018776 demyelinating hereditary motor and sensory neuropathy 'demyelinating hereditary motor and sensory neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' 'demyelinating hereditary motor and sensory neuropathy' SubClassOf 'Charcot-Marie-Tooth disease' 'demyelinating hereditary motor and sensory neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' 'demyelinating hereditary motor and sensory neuropathy' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0018778 intermediate Charcot-Marie-Tooth disease 'intermediate Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' 'intermediate Charcot-Marie-Tooth disease' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome 'Joubert syndrome' SubClassOf 'syndromic disease' 'Joubert syndrome' SubClassOf 'disorder of development or morphogenesis' 'Joubert syndrome' SubClassOf 'ciliopathy' 'Joubert syndrome' SubClassOf 'syndromic disease' 'Joubert syndrome' SubClassOf 'disorder of development or morphogenesis' 'Joubert syndrome' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0018770 Jeune syndrome 'Jeune syndrome' SubClassOf 'inherited renal tubular disease' 'Jeune syndrome' SubClassOf 'ciliopathy' 'Jeune syndrome' SubClassOf 'short rib-polydactyly syndrome' 'Jeune syndrome' SubClassOf 'inherited renal tubular disease' 'Jeune syndrome' SubClassOf 'ciliopathy' 'Jeune syndrome' SubClassOf 'short rib-polydactyly syndrome' http://purl.obolibrary.org/obo/MONDO_0004148 gallbladder papillary neoplasm with an associated invasive carcinoma 'gallbladder papillary neoplasm with an associated invasive carcinoma' SubClassOf 'Gallbladder Adenocarcinoma' 'gallbladder papillary neoplasm with an associated invasive carcinoma' SubClassOf 'gallbladder papillary neoplasm' 'gallbladder papillary neoplasm with an associated invasive carcinoma' SubClassOf 'Gallbladder Adenocarcinoma' 'gallbladder papillary neoplasm with an associated invasive carcinoma' SubClassOf 'gallbladder papillary neoplasm' http://purl.obolibrary.org/obo/MONDO_0018781 KID syndrome 'KID syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'KID syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'KID syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'KID syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0004153 childhood central nervous system embryonal carcinoma 'childhood central nervous system embryonal carcinoma' SubClassOf 'malignant childhood germ cell neoplasm' 'childhood central nervous system embryonal carcinoma' SubClassOf 'embryonal carcinoma of the central nervous system' 'childhood central nervous system embryonal carcinoma' SubClassOf 'childhood central nervous system germ cell tumor' 'childhood central nervous system embryonal carcinoma' SubClassOf 'malignant childhood germ cell neoplasm' 'childhood central nervous system embryonal carcinoma' SubClassOf 'embryonal carcinoma of the central nervous system' 'childhood central nervous system embryonal carcinoma' SubClassOf 'childhood central nervous system germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0004156 pancreatic mucinous cystadenocarcinoma 'pancreatic mucinous cystadenocarcinoma' SubClassOf 'pancreatic cystadenocarcinoma' 'pancreatic mucinous cystadenocarcinoma' SubClassOf 'pancreatic cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004155 adult central nervous system embryonal carcinoma 'adult central nervous system embryonal carcinoma' SubClassOf 'embryonal carcinoma of the central nervous system' 'adult central nervous system embryonal carcinoma' SubClassOf 'adult central nervous system germ cell tumor' 'adult central nervous system embryonal carcinoma' SubClassOf 'embryonal carcinoma of the central nervous system' 'adult central nervous system embryonal carcinoma' SubClassOf 'adult central nervous system germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0004151 spinal meninges cancer 'spinal meninges cancer' SubClassOf 'malignant tumor of meninges' 'spinal meninges cancer' SubClassOf 'spinal cord cancer' 'spinal meninges cancer' SubClassOf 'malignant tumor of meninges' 'spinal meninges cancer' SubClassOf 'spinal cord cancer' http://purl.obolibrary.org/obo/MONDO_0018795 syndromic constitutional thrombocytopenia 'syndromic constitutional thrombocytopenia' SubClassOf 'inherited thrombocytopenia' 'syndromic constitutional thrombocytopenia' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0018794 cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'inherited blood coagulation disorder' 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'inherited bleeding disorder, platelet-type' 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'intestinal disease' 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'inherited bleeding disorder, platelet-type' 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'inherited blood coagulation disorder' 'cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0004169 premenstrual tension 'premenstrual tension' SubClassOf 'female reproductive system disease' 'premenstrual tension' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0004168 cribriform variant testicular seminoma 'cribriform variant testicular seminoma' SubClassOf 'testicular seminoma' 'cribriform variant testicular seminoma' SubClassOf 'testicular seminoma' http://purl.obolibrary.org/obo/MONDO_0004166 hereditary fallopian tube carcinoma 'hereditary fallopian tube carcinoma' SubClassOf 'Fallopian Tube Carcinoma' 'hereditary fallopian tube carcinoma' SubClassOf 'Fallopian Tube Carcinoma' http://purl.obolibrary.org/obo/MONDO_0004163 bladder urachal urothelial carcinoma 'bladder urachal urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' 'bladder urachal urothelial carcinoma' SubClassOf 'bladder urachal carcinoma' 'bladder urachal urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' 'bladder urachal urothelial carcinoma' SubClassOf 'bladder urachal carcinoma' http://purl.obolibrary.org/obo/MONDO_0043771 radiodermatitis 'radiodermatitis' SubClassOf 'dermatitis' 'radiodermatitis' SubClassOf 'dermatitis' http://purl.obolibrary.org/obo/MONDO_0004176 childhood extraosseous osteosarcoma 'childhood extraosseous osteosarcoma' SubClassOf 'pediatric osteosarcoma' 'childhood extraosseous osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'childhood extraosseous osteosarcoma' SubClassOf 'pediatric osteosarcoma' 'childhood extraosseous osteosarcoma' SubClassOf 'extraosseous osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0004177 benign urethral neoplasm 'benign urethral neoplasm' SubClassOf 'urethral neoplasm' 'benign urethral neoplasm' SubClassOf 'benign urinary system neoplasm' 'benign urethral neoplasm' SubClassOf 'urethral neoplasm' 'benign urethral neoplasm' SubClassOf 'benign urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0004180 benign urinary system neoplasm 'benign urinary system neoplasm' SubClassOf 'urinary system neoplasm' 'benign urinary system neoplasm' SubClassOf 'benign neoplasm' 'benign urinary system neoplasm' SubClassOf 'urinary system neoplasm' 'benign urinary system neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0004187 nodular fasciitis 'nodular fasciitis' SubClassOf 'fasciitis' 'nodular fasciitis' SubClassOf 'Soft Tissue Neoplasm' 'nodular fasciitis' SubClassOf 'Fibroblastic Neoplasm' 'nodular fasciitis' SubClassOf 'subcutaneous tissue disorder' 'nodular fasciitis' SubClassOf 'fasciitis' 'nodular fasciitis' SubClassOf 'Soft Tissue Neoplasm' 'nodular fasciitis' SubClassOf 'Fibroblastic Neoplasm' 'nodular fasciitis' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0004189 esophageal tuberculosis 'esophageal tuberculosis' SubClassOf 'gastrointestinal tuberculosis' 'esophageal tuberculosis' SubClassOf 'esophageal disease' 'esophageal tuberculosis' SubClassOf 'gastrointestinal tuberculosis' 'esophageal tuberculosis' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0004188 iris spindle cell melanoma 'iris spindle cell melanoma' SubClassOf 'iris melanoma' 'iris spindle cell melanoma' SubClassOf 'spindle cell intraocular melanoma' 'iris spindle cell melanoma' SubClassOf 'iris melanoma' 'iris spindle cell melanoma' SubClassOf 'spindle cell intraocular melanoma' http://purl.obolibrary.org/obo/MONDO_0004183 axonal neuropathy 'axonal neuropathy' SubClassOf 'peripheral neuropathy' 'axonal neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0004185 ovarian serous cystadenofibroma 'ovarian serous cystadenofibroma' SubClassOf 'Ovarian Serous Adenofibroma' 'ovarian serous cystadenofibroma' SubClassOf 'cystadenofibroma' 'ovarian serous cystadenofibroma' SubClassOf 'Ovarian Serous Adenofibroma' 'ovarian serous cystadenofibroma' SubClassOf 'cystadenofibroma' http://purl.obolibrary.org/obo/MONDO_0004192 urethra cancer 'urethra cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'urethra cancer' SubClassOf 'urethral neoplasm' 'urethra cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'urethra cancer' SubClassOf 'urethral neoplasm' http://purl.obolibrary.org/obo/MONDO_0004197 male urethral cancer 'male urethral cancer' SubClassOf 'urethra cancer' 'male urethral cancer' SubClassOf 'urethra cancer' http://purl.obolibrary.org/obo/MONDO_0004199 vulvar keratinizing squamous cell carcinoma 'vulvar keratinizing squamous cell carcinoma' SubClassOf 'Vulvar Squamous Cell Carcinoma' 'vulvar keratinizing squamous cell carcinoma' SubClassOf 'keratinizing squamous cell carcinoma' 'vulvar keratinizing squamous cell carcinoma' SubClassOf 'Vulvar Squamous Cell Carcinoma' 'vulvar keratinizing squamous cell carcinoma' SubClassOf 'keratinizing squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004193 pediatric ovarian dysgerminoma 'pediatric ovarian dysgerminoma' SubClassOf 'Ovarian Dysgerminoma' 'pediatric ovarian dysgerminoma' SubClassOf 'pediatric ovarian germ cell tumor' 'pediatric ovarian dysgerminoma' SubClassOf 'Ovarian Dysgerminoma' 'pediatric ovarian dysgerminoma' SubClassOf 'pediatric ovarian germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0004196 rectal sarcomatoid carcinoma 'rectal sarcomatoid carcinoma' SubClassOf 'Sarcomatoid Carcinoma' 'rectal sarcomatoid carcinoma' SubClassOf 'Sarcomatoid Carcinoma' http://purl.obolibrary.org/obo/MONDO_0043765 presbycusis 'presbycusis' SubClassOf 'hearing loss' http://purl.obolibrary.org/obo/MONDO_0043768 thrombocytopenic purpura 'thrombocytopenic purpura' SubClassOf 'thrombotic microangiopathy' 'thrombocytopenic purpura' SubClassOf 'purpura' 'thrombocytopenic purpura' SubClassOf 'immune system disease' 'thrombocytopenic purpura' SubClassOf 'thrombotic microangiopathy' 'thrombocytopenic purpura' SubClassOf 'purpura' 'thrombocytopenic purpura' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0043797 spinal cord injury 'spinal cord injury' SubClassOf 'spinal cord disease' 'spinal cord injury' SubClassOf 'spinal cord disease' http://purl.obolibrary.org/obo/MONDO_0018605 disorders of pentose/polyol metabolism 'disorders of pentose/polyol metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorders of pentose/polyol metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0018612 congenital hypothyroidism 'congenital hypothyroidism' SubClassOf 'hypothyroidism' 'congenital hypothyroidism' SubClassOf 'hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy 'undetermined early-onset epileptic encephalopathy' SubClassOf 'neonatal epilepsy syndrome' 'undetermined early-onset epileptic encephalopathy' SubClassOf 'infantile epilepsy syndrome' 'undetermined early-onset epileptic encephalopathy' SubClassOf 'inborn disorder of amino acid transport' 'undetermined early-onset epileptic encephalopathy' SubClassOf 'neonatal epilepsy syndrome' 'undetermined early-onset epileptic encephalopathy' SubClassOf 'inborn disorder of amino acid transport' 'undetermined early-onset epileptic encephalopathy' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0018638 pseudohypoaldosteronism 'pseudohypoaldosteronism' SubClassOf 'renal tubular transport disease' 'pseudohypoaldosteronism' SubClassOf 'renal tubular transport disease' http://purl.obolibrary.org/obo/MONDO_0018637 familial chylomicronemia syndrome 'familial chylomicronemia syndrome' SubClassOf 'syndromic disease' 'familial chylomicronemia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018639 caudal regression-sirenomelia spectrum 'caudal regression-sirenomelia spectrum' SubClassOf 'congenital limb malformation' 'caudal regression-sirenomelia spectrum' SubClassOf 'syndromic disease' 'caudal regression-sirenomelia spectrum' SubClassOf 'congenital limb malformation' 'caudal regression-sirenomelia spectrum' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis 'hereditary amyloidosis' SubClassOf 'amyloidosis' 'hereditary amyloidosis' SubClassOf 'inborn errors of metabolism' 'hereditary amyloidosis' SubClassOf 'amyloidosis' 'hereditary amyloidosis' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0018633 20q11.2 microdeletion syndrome '20q11.2 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20q11.2 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 20' '20q11.2 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20q11.2 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0018630 hereditary nonpolyposis colon cancer 'hereditary nonpolyposis colon cancer' SubClassOf 'hereditary neoplastic syndrome' 'hereditary nonpolyposis colon cancer' SubClassOf 'familial colorectal cancer' 'hereditary nonpolyposis colon cancer' SubClassOf 'hereditary neoplastic syndrome' 'hereditary nonpolyposis colon cancer' SubClassOf 'familial colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0018631 Marie Unna hereditary hypotrichosis 'Marie Unna hereditary hypotrichosis' SubClassOf 'hypotrichosis' 'Marie Unna hereditary hypotrichosis' SubClassOf 'hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0004007 breast intraductal proliferative lesion 'breast intraductal proliferative lesion' SubClassOf 'intraductal breast neoplasm' 'breast intraductal proliferative lesion' SubClassOf 'intraductal breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0004009 kidney pelvis sarcomatoid transitional cell carcinoma 'kidney pelvis sarcomatoid transitional cell carcinoma' SubClassOf 'sarcomatoid transitional cell carcinoma' 'kidney pelvis sarcomatoid transitional cell carcinoma' SubClassOf 'sarcomatoid transitional cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004000 childhood pilocytic astrocytoma 'childhood pilocytic astrocytoma' SubClassOf 'pilocytic astrocytoma' 'childhood pilocytic astrocytoma' SubClassOf 'pilocytic astrocytoma' http://purl.obolibrary.org/obo/MONDO_0004001 compartment syndrome 'compartment syndrome' SubClassOf 'syndromic disease' 'compartment syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018648 Keratocystic odontogenic tumor 'Keratocystic odontogenic tumor' SubClassOf 'odontogenic neoplasm' 'Keratocystic odontogenic tumor' SubClassOf 'odontogenic neoplasm' http://purl.obolibrary.org/obo/MONDO_0018640 secondary vasculitis 'secondary vasculitis' SubClassOf 'vasculitis' 'secondary vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0018642 NIK deficiency 'NIK deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'NIK deficiency' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0004015 pineal region teratoma 'pineal region teratoma' SubClassOf 'central nervous system teratoma' 'pineal region teratoma' SubClassOf 'central nervous system teratoma' http://purl.obolibrary.org/obo/MONDO_0004010 infiltrating renal pelvis/ureter urothelial carcinoma 'infiltrating renal pelvis/ureter urothelial carcinoma' SubClassOf 'infiltrating urothelial carcinoma' 'infiltrating renal pelvis/ureter urothelial carcinoma' SubClassOf 'infiltrating urothelial carcinoma' http://purl.obolibrary.org/obo/MONDO_0018659 partial duplication of the short arm of chromosome 19 'partial duplication of the short arm of chromosome 19' SubClassOf 'partial duplication of chromosome 19' 'partial duplication of the short arm of chromosome 19' SubClassOf 'partial duplication of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0018656 tremor-ataxia-central hypomyelination syndrome 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'hereditary ataxia' 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0018658 19p13.3 microduplication syndrome '19p13.3 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19p13.3 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 19' '19p13.3 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '19p13.3 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0018653 Polymerase proofreading-related adenomatous polyposis 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' 'Polymerase proofreading-related adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0004028 small intestinal fibrosarcoma 'small intestinal fibrosarcoma' SubClassOf 'small intestinal sarcoma' 'small intestinal fibrosarcoma' SubClassOf 'fibrosarcoma' 'small intestinal fibrosarcoma' SubClassOf 'small intestinal sarcoma' 'small intestinal fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0004021 mediastinal malignant lymphoma 'mediastinal malignant lymphoma' SubClassOf 'mediastinal cancer' 'mediastinal malignant lymphoma' SubClassOf 'lymphoma' 'mediastinal malignant lymphoma' SubClassOf 'mediastinal cancer' 'mediastinal malignant lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0004024 spinal cord neuroblastoma 'spinal cord neuroblastoma' SubClassOf 'extracranial neuroblastoma' 'spinal cord neuroblastoma' SubClassOf 'spinal cord cancer' 'spinal cord neuroblastoma' SubClassOf 'extracranial neuroblastoma' 'spinal cord neuroblastoma' SubClassOf 'spinal cord cancer' http://purl.obolibrary.org/obo/MONDO_0018663 regressive spondylometaphyseal dysplasia 'regressive spondylometaphyseal dysplasia' SubClassOf 'spondylometaphyseal dysplasia' 'regressive spondylometaphyseal dysplasia' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0018662 autosomal recessive brachyolmia 'autosomal recessive brachyolmia' SubClassOf 'brachyolmia' 'autosomal recessive brachyolmia' SubClassOf 'brachyolmia' http://purl.obolibrary.org/obo/MONDO_0018661 Zika virus infectious disease 'Zika virus infectious disease' SubClassOf 'vector-borne disease' 'Zika virus infectious disease' SubClassOf 'vector-borne disease' http://purl.obolibrary.org/obo/MONDO_0018660 hemophilia 'hemophilia' SubClassOf 'coagulation protein disease' 'hemophilia' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0004037 retinal edema 'retinal edema' SubClassOf 'retinopathy' 'retinal edema' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0004034 eye lymphoma 'eye lymphoma' SubClassOf 'lymphoma' 'eye lymphoma' SubClassOf 'ocular cancer' 'eye lymphoma' SubClassOf 'lymphoma' 'eye lymphoma' SubClassOf 'ocular cancer' http://purl.obolibrary.org/obo/MONDO_0004030 ureter transitional cell carcinoma 'ureter transitional cell carcinoma' SubClassOf 'Ureter Carcinoma' 'ureter transitional cell carcinoma' SubClassOf 'Ureter Carcinoma' http://purl.obolibrary.org/obo/MONDO_0018677 visceral heterotaxy 'visceral heterotaxy' SubClassOf 'congenital heart malformation' 'visceral heterotaxy' SubClassOf 'syndromic disease' 'visceral heterotaxy' SubClassOf 'congenital heart malformation' 'visceral heterotaxy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018675 IgG4-related ophthalmic disorder 'IgG4-related ophthalmic disorder' SubClassOf 'IgG4-related disease' 'IgG4-related ophthalmic disorder' SubClassOf 'eye disease' 'IgG4-related ophthalmic disorder' SubClassOf 'IgG4-related disease' 'IgG4-related ophthalmic disorder' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0004048 immature gastric teratoma 'immature gastric teratoma' SubClassOf 'malignant teratoma' 'immature gastric teratoma' SubClassOf 'gastric teratoma' 'immature gastric teratoma' SubClassOf 'malignant gastric germ cell tumor' 'immature gastric teratoma' SubClassOf 'malignant teratoma' 'immature gastric teratoma' SubClassOf 'gastric teratoma' 'immature gastric teratoma' SubClassOf 'malignant gastric germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0004044 ureter urothelial papilloma 'ureter urothelial papilloma' SubClassOf 'urothelial papilloma' 'ureter urothelial papilloma' SubClassOf 'ureter benign neoplasm' 'ureter urothelial papilloma' SubClassOf 'urothelial papilloma' 'ureter urothelial papilloma' SubClassOf 'ureter benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0004043 ureter inverted papilloma 'ureter inverted papilloma' SubClassOf 'ureter urothelial papilloma' 'ureter inverted papilloma' SubClassOf 'inverted urothelial papilloma' 'ureter inverted papilloma' SubClassOf 'ureter urothelial papilloma' 'ureter inverted papilloma' SubClassOf 'inverted urothelial papilloma' http://purl.obolibrary.org/obo/MONDO_0004046 childhood brain meningioma 'childhood brain meningioma' SubClassOf 'intracranial meningioma' 'childhood brain meningioma' SubClassOf 'pediatric meningioma' 'childhood brain meningioma' SubClassOf 'intracranial meningioma' 'childhood brain meningioma' SubClassOf 'pediatric meningioma' http://purl.obolibrary.org/obo/MONDO_0043653 herpes labialis 'herpes labialis' SubClassOf 'lip disorder' 'herpes labialis' SubClassOf 'Herpes simplex infection' 'herpes labialis' SubClassOf 'lip disorder' 'herpes labialis' SubClassOf 'Herpes simplex infection' http://purl.obolibrary.org/obo/MONDO_0004040 urinary bladder inverted papilloma 'urinary bladder inverted papilloma' SubClassOf 'inverted urothelial papilloma' 'urinary bladder inverted papilloma' SubClassOf 'inverted urothelial papilloma' http://purl.obolibrary.org/obo/MONDO_0004042 urethra inverted papilloma 'urethra inverted papilloma' SubClassOf 'urethral urothelial papilloma' 'urethra inverted papilloma' SubClassOf 'inverted urothelial papilloma' 'urethra inverted papilloma' EquivalentTo 'urethral urothelial papilloma' and 'inverted papilloma' and 'inverted urothelial papilloma' and ('disease has location' some 'urethra') 'urethra inverted papilloma' SubClassOf 'urethral urothelial papilloma' 'urethra inverted papilloma' SubClassOf 'inverted urothelial papilloma' 'urethra inverted papilloma' EquivalentTo 'urethral urothelial papilloma' and 'inverted papilloma' and 'inverted urothelial papilloma' and ('disease has location' some 'urethra') http://purl.obolibrary.org/obo/MONDO_0004041 urothelial papilloma 'urothelial papilloma' SubClassOf 'benign urinary system neoplasm' 'urothelial papilloma' SubClassOf 'papillary urothelial neoplasm' 'urothelial papilloma' SubClassOf 'transitional cell papilloma' 'urothelial papilloma' SubClassOf 'urinary tract non-invasive transitional cell neoplasm' 'urothelial papilloma' SubClassOf 'benign urinary system neoplasm' 'urothelial papilloma' SubClassOf 'transitional cell papilloma' 'urothelial papilloma' SubClassOf 'papillary urothelial neoplasm' 'urothelial papilloma' SubClassOf 'urinary tract non-invasive transitional cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0018686 acquired Creutzfeldt-Jakob disease 'acquired Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' 'acquired Creutzfeldt-Jakob disease' SubClassOf 'Creutzfeldt Jacob Disease' http://purl.obolibrary.org/obo/MONDO_0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'dysostosis' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'Neurodevelopmental disorder' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'dysostosis' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018683 acquired ichthyosis 'acquired ichthyosis' SubClassOf 'ichthyosis' 'acquired ichthyosis' SubClassOf 'ichthyosis' http://purl.obolibrary.org/obo/MONDO_0004056 bladder papillary urothelial carcinoma 'bladder papillary urothelial carcinoma' SubClassOf 'Papillary Transitional Cell Carcinoma' 'bladder papillary urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' 'bladder papillary urothelial carcinoma' SubClassOf 'bladder papillary urothelial neoplasm' 'bladder papillary urothelial carcinoma' SubClassOf 'Papillary Transitional Cell Carcinoma' 'bladder papillary urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' 'bladder papillary urothelial carcinoma' SubClassOf 'bladder papillary urothelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0004050 telangiectatic osteogenic sarcoma 'telangiectatic osteogenic sarcoma' SubClassOf 'bone osteosarcoma' 'telangiectatic osteogenic sarcoma' SubClassOf 'bone osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0018696 corticobasal syndrome 'corticobasal syndrome' SubClassOf 'inherited neurodegenerative disorder' 'corticobasal syndrome' SubClassOf 'hereditary dementia' 'corticobasal syndrome' SubClassOf 'inherited neurodegenerative disorder' 'corticobasal syndrome' SubClassOf 'hereditary dementia' http://purl.obolibrary.org/obo/MONDO_0018698 hereditary neuroendocrine tumor of small intestine 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'genetic disorder' 'hereditary neuroendocrine tumor of small intestine' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder 'inborn mitochondrial metabolism disorder' SubClassOf 'developmental anomaly of metabolic origin' 'inborn mitochondrial metabolism disorder' SubClassOf 'inborn disorder of energy metabolism' 'inborn mitochondrial metabolism disorder' SubClassOf 'developmental anomaly of metabolic origin' 'inborn mitochondrial metabolism disorder' SubClassOf 'inborn disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0004067 gallbladder mucinous adenocarcinoma 'gallbladder mucinous adenocarcinoma' SubClassOf 'Gallbladder Adenocarcinoma' 'gallbladder mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'gallbladder mucinous adenocarcinoma' SubClassOf 'Gallbladder Adenocarcinoma' 'gallbladder mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' http://purl.obolibrary.org/obo/MONDO_0004064 iris melanoma 'iris melanoma' SubClassOf 'Uveal Melanoma' 'iris melanoma' SubClassOf 'iris cancer' 'iris melanoma' SubClassOf 'Uveal Melanoma' 'iris melanoma' SubClassOf 'iris cancer' http://purl.obolibrary.org/obo/MONDO_0004071 childhood cerebral astrocytoma 'childhood cerebral astrocytoma' SubClassOf 'childhood astrocytic tumor' 'childhood cerebral astrocytoma' SubClassOf 'cerebral hemisphere cancer' 'childhood cerebral astrocytoma' SubClassOf 'brain glioma' 'childhood cerebral astrocytoma' SubClassOf 'childhood astrocytic tumor' 'childhood cerebral astrocytoma' SubClassOf 'cerebral hemisphere cancer' 'childhood cerebral astrocytoma' SubClassOf 'brain glioma' http://purl.obolibrary.org/obo/MONDO_0004076 tendon sheath lipoma 'tendon sheath lipoma' SubClassOf 'lipoma' 'tendon sheath lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0004075 infiltrating lipoma 'infiltrating lipoma' SubClassOf 'lipoma' 'infiltrating lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0004080 glottis squamous cell carcinoma 'glottis squamous cell carcinoma' SubClassOf 'glottis carcinoma' 'glottis squamous cell carcinoma' SubClassOf 'laryngeal squamous cell carcinoma' 'glottis squamous cell carcinoma' SubClassOf 'glottis carcinoma' 'glottis squamous cell carcinoma' SubClassOf 'laryngeal squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004082 childhood immature teratoma of ovary 'childhood immature teratoma of ovary' SubClassOf 'childhood teratoma of the ovary' 'childhood immature teratoma of ovary' SubClassOf 'immature ovarian teratoma' 'childhood immature teratoma of ovary' SubClassOf 'childhood teratoma of the ovary' 'childhood immature teratoma of ovary' SubClassOf 'immature ovarian teratoma' http://purl.obolibrary.org/obo/MONDO_0004081 extrahepatic bile duct clear cell adenocarcinoma 'extrahepatic bile duct clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'extrahepatic bile duct clear cell adenocarcinoma' SubClassOf 'extrahepatic bile duct adenocarcinoma' 'extrahepatic bile duct clear cell adenocarcinoma' SubClassOf 'clear cell adenocarcinoma' 'extrahepatic bile duct clear cell adenocarcinoma' SubClassOf 'extrahepatic bile duct adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004088 cervical basaloid carcinoma 'cervical basaloid carcinoma' SubClassOf 'cervical squamous cell carcinoma' 'cervical basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'cervical basaloid carcinoma' SubClassOf 'cervical squamous cell carcinoma' 'cervical basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004087 basaloid large cell lung carcinoma 'basaloid large cell lung carcinoma' SubClassOf 'Basaloid Carcinoma' 'basaloid large cell lung carcinoma' EquivalentTo 'large cell lung carcinoma' and 'Basaloid Carcinoma' 'basaloid large cell lung carcinoma' SubClassOf 'large cell lung carcinoma' 'basaloid large cell lung carcinoma' SubClassOf 'Basaloid Carcinoma' 'basaloid large cell lung carcinoma' EquivalentTo 'large cell lung carcinoma' and 'Basaloid Carcinoma' 'basaloid large cell lung carcinoma' SubClassOf 'large cell lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0004089 basaloid carcinoma of the penis 'basaloid carcinoma of the penis' SubClassOf 'human papillomavirus-related penile squamous cell carcinoma' 'basaloid carcinoma of the penis' SubClassOf 'basaloid squamous cell carcinoma' 'basaloid carcinoma of the penis' SubClassOf 'human papillomavirus-related penile squamous cell carcinoma' 'basaloid carcinoma of the penis' SubClassOf 'basaloid squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004086 ciliary body epithelioid cell melanoma 'ciliary body epithelioid cell melanoma' SubClassOf 'malignant ciliary body melanoma' 'ciliary body epithelioid cell melanoma' SubClassOf 'Epithelioid Cell Uveal Melanoma' 'ciliary body epithelioid cell melanoma' SubClassOf 'malignant ciliary body melanoma' 'ciliary body epithelioid cell melanoma' SubClassOf 'Epithelioid Cell Uveal Melanoma' http://purl.obolibrary.org/obo/MONDO_0004085 choroid epithelioid cell melanoma 'choroid epithelioid cell melanoma' SubClassOf 'malignant choroid melanoma' 'choroid epithelioid cell melanoma' SubClassOf 'Epithelioid Cell Uveal Melanoma' 'choroid epithelioid cell melanoma' SubClassOf 'malignant choroid melanoma' 'choroid epithelioid cell melanoma' SubClassOf 'Epithelioid Cell Uveal Melanoma' http://purl.obolibrary.org/obo/MONDO_0004091 skin basaloid carcinoma 'skin basaloid carcinoma' SubClassOf 'skin squamous cell carcinoma' 'skin basaloid carcinoma' SubClassOf 'keratinizing squamous cell carcinoma' 'skin basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'skin basaloid carcinoma' SubClassOf 'skin squamous cell carcinoma' 'skin basaloid carcinoma' SubClassOf 'keratinizing squamous cell carcinoma' 'skin basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004090 vulvar basaloid squamous cell carcinoma 'vulvar basaloid squamous cell carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'vulvar basaloid squamous cell carcinoma' SubClassOf 'Vulvar Squamous Cell Carcinoma' 'vulvar basaloid squamous cell carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'vulvar basaloid squamous cell carcinoma' SubClassOf 'Vulvar Squamous Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0004093 esophageal basaloid carcinoma 'esophageal basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'esophageal basaloid carcinoma' EquivalentTo 'esophageal squamous cell carcinoma' and 'basaloid squamous cell carcinoma' 'esophageal basaloid carcinoma' SubClassOf 'esophageal squamous cell carcinoma' 'esophageal basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'esophageal basaloid carcinoma' EquivalentTo 'esophageal squamous cell carcinoma' and 'basaloid squamous cell carcinoma' 'esophageal basaloid carcinoma' SubClassOf 'esophageal squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004092 thymic basaloid carcinoma 'thymic basaloid carcinoma' SubClassOf 'Thymic Squamous Cell Carcinoma' 'thymic basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' 'thymic basaloid carcinoma' SubClassOf 'Thymic Squamous Cell Carcinoma' 'thymic basaloid carcinoma' SubClassOf 'basaloid squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004099 adult cystic teratoma 'adult cystic teratoma' SubClassOf 'adult teratoma' 'adult cystic teratoma' SubClassOf 'cystic teratoma' 'adult cystic teratoma' SubClassOf 'adult teratoma' 'adult cystic teratoma' SubClassOf 'cystic teratoma' http://purl.obolibrary.org/obo/MONDO_0004095 B-cell neoplasm 'B-cell neoplasm' SubClassOf 'lymphoma' 'B-cell neoplasm' SubClassOf 'leukocyte disorder' 'B-cell neoplasm' SubClassOf 'lymphoma' 'B-cell neoplasm' SubClassOf 'leukocyte disorder' http://www.ebi.ac.uk/efo/EFO_0002087 fibrosarcoma 'fibrosarcoma' SubClassOf 'Fibroblastic Neoplasm' 'fibrosarcoma' SubClassOf 'soft tissue sarcoma' 'fibrosarcoma' SubClassOf 'Fibroblastic Neoplasm' 'fibrosarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0018509 squamous cell carcinoma of the small intestine 'squamous cell carcinoma of the small intestine' SubClassOf 'squamous cell carcinoma' 'squamous cell carcinoma of the small intestine' SubClassOf 'small intestine carcinoma' 'squamous cell carcinoma of the small intestine' SubClassOf 'squamous cell carcinoma' 'squamous cell carcinoma of the small intestine' SubClassOf 'small intestine carcinoma' http://purl.obolibrary.org/obo/MONDO_0018506 mesenchymal tumor of small intestine 'mesenchymal tumor of small intestine' SubClassOf 'small intestine neoplasm' 'mesenchymal tumor of small intestine' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/MONDO_0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome 'microcephaly-complex motor and sensory axonal neuropathy syndrome' SubClassOf 'syndromic disease' 'microcephaly-complex motor and sensory axonal neuropathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018502 hereditary gastric cancer 'hereditary gastric cancer' SubClassOf 'genetic disorder' 'hereditary gastric cancer' SubClassOf 'gastric carcinoma' 'hereditary gastric cancer' SubClassOf 'genetic disorder' 'hereditary gastric cancer' SubClassOf 'gastric carcinoma' http://purl.obolibrary.org/obo/MONDO_0018504 undifferentiated carcinoma of stomach 'undifferentiated carcinoma of stomach' SubClassOf 'gastric carcinoma' 'undifferentiated carcinoma of stomach' SubClassOf 'undifferentiated carcinoma' 'undifferentiated carcinoma of stomach' SubClassOf 'gastric carcinoma' 'undifferentiated carcinoma of stomach' SubClassOf 'undifferentiated carcinoma' http://purl.obolibrary.org/obo/MONDO_0018516 epithelial tumor of anal canal 'epithelial tumor of anal canal' SubClassOf 'intestinal neoplasm' 'epithelial tumor of anal canal' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0018513 squamous cell carcinoma of colon 'squamous cell carcinoma of colon' SubClassOf 'colon carcinoma' 'squamous cell carcinoma of colon' SubClassOf 'Colorectal Squamous Cell Carcinoma' 'squamous cell carcinoma of colon' SubClassOf 'colon carcinoma' 'squamous cell carcinoma of colon' SubClassOf 'Colorectal Squamous Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0018515 squamous cell carcinoma of rectum 'squamous cell carcinoma of rectum' SubClassOf 'Colorectal Squamous Cell Carcinoma' 'squamous cell carcinoma of rectum' SubClassOf 'Colorectal Squamous Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0018528 congenital myopathy with myasthenic-like onset 'congenital myopathy with myasthenic-like onset' SubClassOf 'RYR1-related myopathy' 'congenital myopathy with myasthenic-like onset' SubClassOf 'RYR1-related myopathy' http://purl.obolibrary.org/obo/MONDO_0018523 pancreatic mucinous cystadenoma 'pancreatic mucinous cystadenoma' SubClassOf 'pancreatic cystadenoma' 'pancreatic mucinous cystadenoma' SubClassOf 'pancreatic carcinoma' 'pancreatic mucinous cystadenoma' SubClassOf 'pancreatic cystadenoma' 'pancreatic mucinous cystadenoma' SubClassOf 'pancreatic carcinoma' http://purl.obolibrary.org/obo/MONDO_0018521 squamous cell carcinoma of pancreas 'squamous cell carcinoma of pancreas' SubClassOf 'pancreatic carcinoma' 'squamous cell carcinoma of pancreas' SubClassOf 'pancreatic carcinoma' http://purl.obolibrary.org/obo/MONDO_0018535 biliary cystadenocarcinoma 'biliary cystadenocarcinoma' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'biliary cystadenocarcinoma' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0018534 squamous cell carcinoma of liver and intrahepatic biliary tract 'squamous cell carcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'squamous cell carcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0018537 squamous cell carcinoma of gallbladder and extrahepatic biliary tract 'squamous cell carcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'carcinoma of gallbladder and extrahepatic biliary tract' 'squamous cell carcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'carcinoma of gallbladder and extrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0018536 adenocarcinoma of gallbladder and extrahepatic biliary tract 'adenocarcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'carcinoma of gallbladder and extrahepatic biliary tract' 'adenocarcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'carcinoma of gallbladder and extrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0018531 carcinoma of liver and intrahepatic biliary tract 'carcinoma of liver and intrahepatic biliary tract' SubClassOf 'Digestive System Carcinoma' 'carcinoma of liver and intrahepatic biliary tract' SubClassOf 'Digestive System Carcinoma' http://purl.obolibrary.org/obo/MONDO_0018533 undifferentiated carcinoma of liver and intrahepatic biliary tract 'undifferentiated carcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'undifferentiated carcinoma of liver and intrahepatic biliary tract' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0018542 severe congenital neutropenia 'severe congenital neutropenia' SubClassOf 'constitutional neutropenia' 'severe congenital neutropenia' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0018541 familial hypoaldosteronism 'familial hypoaldosteronism' SubClassOf 'hypoaldosteronism disease' 'familial hypoaldosteronism' SubClassOf 'hypoaldosteronism disease' http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy 'adrenoleukodystrophy' SubClassOf 'adrenal gland disease' 'adrenoleukodystrophy' SubClassOf 'disorder of peroxisomal transporter' 'adrenoleukodystrophy' SubClassOf 'leukodystrophy' 'adrenoleukodystrophy' SubClassOf 'X-linked disease' 'adrenoleukodystrophy' SubClassOf 'adrenal gland disease' 'adrenoleukodystrophy' SubClassOf 'disorder of peroxisomal transporter' 'adrenoleukodystrophy' SubClassOf 'leukodystrophy' 'adrenoleukodystrophy' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0018543 autosomal dominant hypocalcemia 'autosomal dominant hypocalcemia' SubClassOf 'calcium metabolic disease' 'autosomal dominant hypocalcemia' SubClassOf 'familial hypoparathyroidism' 'autosomal dominant hypocalcemia' SubClassOf 'calcium metabolic disease' 'autosomal dominant hypocalcemia' SubClassOf 'familial hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0018540 PFAPA syndrome 'PFAPA syndrome' SubClassOf 'autoinflammatory syndrome' 'PFAPA syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0018559 fetal lower urinary tract obstruction 'fetal lower urinary tract obstruction' SubClassOf 'urogenital tract malformation' 'fetal lower urinary tract obstruction' SubClassOf 'kidney disease' 'fetal lower urinary tract obstruction' SubClassOf 'urogenital tract malformation' 'fetal lower urinary tract obstruction' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0018555 hypogonadotropic hypogonadism 'hypogonadotropic hypogonadism' SubClassOf 'hypogonadism' 'hypogonadotropic hypogonadism' SubClassOf 'hypogonadism' http://purl.obolibrary.org/obo/MONDO_0018563 adactyly of foot 'adactyly of foot' SubClassOf 'skeletal dysplasia' 'adactyly of foot' SubClassOf 'dysostosis' 'adactyly of foot' SubClassOf 'skeletal dysplasia' 'adactyly of foot' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0018565 congenital urachal anomaly 'congenital urachal anomaly' SubClassOf 'urinary system disease' 'congenital urachal anomaly' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0043544 nosocomial infection 'nosocomial infection' SubClassOf 'infectious disease' 'nosocomial infection' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0018570 hypophosphatasia 'hypophosphatasia' SubClassOf 'autosomal dominant disease' 'hypophosphatasia' SubClassOf 'developmental anomaly of metabolic origin' 'hypophosphatasia' SubClassOf 'inborn errors of metabolism' 'hypophosphatasia' SubClassOf 'autosomal dominant disease' 'hypophosphatasia' SubClassOf 'developmental anomaly of metabolic origin' 'hypophosphatasia' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0018591 ITM2B amyloidosis 'ITM2B amyloidosis' SubClassOf 'disease has major feature' some 'dementia' 'ITM2B amyloidosis' SubClassOf 'inherited neurodegenerative disorder' 'ITM2B amyloidosis' SubClassOf 'hereditary amyloidosis' 'ITM2B amyloidosis' SubClassOf 'inherited neurodegenerative disorder' 'ITM2B amyloidosis' SubClassOf 'hereditary amyloidosis' 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0018590 ABeta2M amyloidosis 'ABeta2M amyloidosis' SubClassOf 'amyloidosis' 'ABeta2M amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0018588 ALECT2 amyloidosis 'ALECT2 amyloidosis' SubClassOf 'amyloidosis' 'ALECT2 amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0018582 GCGR-related hyperglucagonemia 'GCGR-related hyperglucagonemia' SubClassOf 'pancreatic neoplasm' 'GCGR-related hyperglucagonemia' SubClassOf 'pancreatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0018593 primary polyarteritis nodosa 'primary polyarteritis nodosa' SubClassOf 'polyarteritis nodosa' 'primary polyarteritis nodosa' SubClassOf 'polyarteritis nodosa' http://purl.obolibrary.org/obo/MONDO_0018592 cutaneous polyarteritis nodosa 'cutaneous polyarteritis nodosa' SubClassOf 'primary polyarteritis nodosa' 'cutaneous polyarteritis nodosa' SubClassOf 'primary polyarteritis nodosa' http://purl.obolibrary.org/obo/MONDO_0043579 enteritis 'enteritis' SubClassOf 'small intestine disorder' 'enteritis' SubClassOf 'gastroenteritis' 'enteritis' SubClassOf 'small intestine disorder' 'enteritis' SubClassOf 'gastroenteritis' http://purl.obolibrary.org/obo/MONDO_0018418 autosomal recessive spastic paraplegia type 66 'autosomal recessive spastic paraplegia type 66' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal recessive spastic paraplegia type 66' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018417 autosomal recessive spastic paraplegia type 60 'autosomal recessive spastic paraplegia type 60' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal recessive spastic paraplegia type 60' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018419 autosomal recessive spastic paraplegia type 67 'autosomal recessive spastic paraplegia type 67' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal recessive spastic paraplegia type 67' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018416 autosomal recessive spastic paraplegia type 59 'autosomal recessive spastic paraplegia type 59' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal recessive spastic paraplegia type 59' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018429 14q24.1q24.3 microdeletion syndrome '14q24.1q24.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' '14q24.1q24.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '14q24.1q24.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 14' '14q24.1q24.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018428 9q31.1q31.3 microdeletion syndrome '9q31.1q31.3 microdeletion syndrome' SubClassOf 'partial monosomy of the long arm of chromosome 9' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'partial monosomy of the long arm of chromosome 9' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018425 Huntington disease-like syndrome due to C9ORF72 expansions 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Huntington disease-like syndrome' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease has major feature' some 'dementia' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'Huntington disease-like syndrome' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0018424 inherited lipoic acid biosynthesis defect 'inherited lipoic acid biosynthesis defect' SubClassOf 'inborn mitochondrial metabolism disorder' 'inherited lipoic acid biosynthesis defect' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0018426 AXIN2-related attenuated familial adenomatous polyposis 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' 'AXIN2-related attenuated familial adenomatous polyposis' SubClassOf 'attenuated familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0018421 autosomal recessive spastic paraplegia type 69 'autosomal recessive spastic paraplegia type 69' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal recessive spastic paraplegia type 69' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018420 autosomal recessive spastic paraplegia type 68 'autosomal recessive spastic paraplegia type 68' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal recessive spastic paraplegia type 68' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018423 autosomal recessive spastic paraplegia type 71 'autosomal recessive spastic paraplegia type 71' SubClassOf 'pure hereditary spastic paraplegia' 'autosomal recessive spastic paraplegia type 71' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018422 autosomal recessive spastic paraplegia type 70 'autosomal recessive spastic paraplegia type 70' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal recessive spastic paraplegia type 70' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0018431 cold-induced sweating syndrome - hyperthermia spectrum 'cold-induced sweating syndrome - hyperthermia spectrum' SubClassOf 'hereditary sensory and autonomic neuropathy' 'cold-induced sweating syndrome - hyperthermia spectrum' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018446 autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' SubClassOf 'monogenic epilepsy' 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' SubClassOf 'monogenic epilepsy' 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018445 global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome 'global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome' SubClassOf 'genetic disorder' 'global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome' SubClassOf 'overgrowth syndrome' 'global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome' SubClassOf 'genetic disorder' 'global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis 'autosomal recessive distal renal tubular acidosis' SubClassOf 'distal renal tubular acidosis' 'autosomal recessive distal renal tubular acidosis' SubClassOf 'distal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia 'familial hypocalciuric hypercalcemia' SubClassOf 'endocrine system disease' 'familial hypocalciuric hypercalcemia' SubClassOf 'hypercalcemia disease' 'familial hypocalciuric hypercalcemia' SubClassOf 'endocrine system disease' 'familial hypocalciuric hypercalcemia' SubClassOf 'hypercalcemia disease' http://purl.obolibrary.org/obo/MONDO_0018459 isolated glycerol kinase deficiency 'isolated glycerol kinase deficiency' SubClassOf 'inborn glycerol kinase deficiency' 'isolated glycerol kinase deficiency' SubClassOf 'inborn glycerol kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0018453 familial atypical multiple mole melanoma syndrome 'familial atypical multiple mole melanoma syndrome' SubClassOf 'integumentary system disease' 'familial atypical multiple mole melanoma syndrome' SubClassOf 'hereditary neoplastic syndrome' 'familial atypical multiple mole melanoma syndrome' SubClassOf 'integumentary system disease' 'familial atypical multiple mole melanoma syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0018450 spinal muscular atrophy with respiratory distress type 2 'spinal muscular atrophy with respiratory distress type 2' SubClassOf 'spinal muscular atrophy' 'spinal muscular atrophy with respiratory distress type 2' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis 'renal agenesis' SubClassOf 'disorder of development or morphogenesis' 'renal agenesis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0018467 nephropathic infantile cystinosis 'nephropathic infantile cystinosis' SubClassOf 'nephropathic cystinosis' 'nephropathic infantile cystinosis' SubClassOf 'inborn disorder of amino acid transport' 'nephropathic infantile cystinosis' SubClassOf 'nephropathic cystinosis' 'nephropathic infantile cystinosis' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0018481 undifferentiated carcinoma of esophagus 'undifferentiated carcinoma of esophagus' SubClassOf 'undifferentiated carcinoma' 'undifferentiated carcinoma of esophagus' SubClassOf 'esophageal squamous cell carcinoma' 'undifferentiated carcinoma of esophagus' SubClassOf 'undifferentiated carcinoma' 'undifferentiated carcinoma of esophagus' SubClassOf 'esophageal squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0018479 congenital adrenal hyperplasia 'congenital adrenal hyperplasia' SubClassOf 'adrenogenital syndrome' 'congenital adrenal hyperplasia' SubClassOf 'steroid inherited metabolic disorder' 'congenital adrenal hyperplasia' SubClassOf 'chronic primary adrenal insufficiency' 'congenital adrenal hyperplasia' SubClassOf 'hereditary endocrine growth disease' 'congenital adrenal hyperplasia' SubClassOf 'adrenogenital syndrome' 'congenital adrenal hyperplasia' SubClassOf 'steroid inherited metabolic disorder' 'congenital adrenal hyperplasia' SubClassOf 'chronic primary adrenal insufficiency' 'congenital adrenal hyperplasia' SubClassOf 'hereditary endocrine growth disease' http://purl.obolibrary.org/obo/MONDO_0018477 bilirubin encephalopathy 'bilirubin encephalopathy' SubClassOf 'brain disease' 'bilirubin encephalopathy' SubClassOf 'inborn disorder of bilirubin metabolism' 'bilirubin encephalopathy' SubClassOf 'brain disease' 'bilirubin encephalopathy' SubClassOf 'inborn disorder of bilirubin metabolism' http://purl.obolibrary.org/obo/MONDO_0018473 hyperlipoproteinemia type 3 'hyperlipoproteinemia type 3' SubClassOf 'familial hyperlipidemia' 'hyperlipoproteinemia type 3' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell carcinoma 'hereditary clear cell renal cell carcinoma' SubClassOf 'clear cell renal carcinoma' 'hereditary clear cell renal cell carcinoma' SubClassOf 'hereditary renal cell carcinoma' 'hereditary clear cell renal cell carcinoma' SubClassOf 'clear cell renal carcinoma' 'hereditary clear cell renal cell carcinoma' SubClassOf 'hereditary renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0018491 3-phosphoglycerate dehydrogenase deficiency '3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'neurometabolic disorder due to serine deficiency' '3-phosphoglycerate dehydrogenase deficiency' SubClassOf 'neurometabolic disorder due to serine deficiency' http://purl.obolibrary.org/obo/MONDO_0018485 glycogen storage disease due to acid maltase deficiency, late-onset 'glycogen storage disease due to acid maltase deficiency, late-onset' SubClassOf 'glycogen storage disease II' 'glycogen storage disease due to acid maltase deficiency, late-onset' SubClassOf 'glycogen storage disease II' http://purl.obolibrary.org/obo/MONDO_0018493 malignant hyperthermia of anesthesia 'malignant hyperthermia of anesthesia' SubClassOf 'muscular channelopathy' 'malignant hyperthermia of anesthesia' SubClassOf 'disease has major feature' some 'Malignant hyperthermia' 'malignant hyperthermia of anesthesia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Malignant hyperthermia' 'malignant hyperthermia of anesthesia' SubClassOf 'muscular channelopathy' http://purl.obolibrary.org/obo/MONDO_0008905 predisposition to invasive fungal disease due to CARD9 deficiency 'predisposition to invasive fungal disease due to CARD9 deficiency' SubClassOf 'inherited disease susceptibility' 'predisposition to invasive fungal disease due to CARD9 deficiency' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0008903 lung cancer 'lung cancer' SubClassOf 'lung neoplasm' 'lung cancer' SubClassOf 'thoracic cancer' 'lung cancer' SubClassOf 'respiratory system cancer' 'lung cancer' SubClassOf 'lung neoplasm' 'lung cancer' SubClassOf 'thoracic cancer' 'lung cancer' SubClassOf 'respiratory system cancer' http://purl.obolibrary.org/obo/MONDO_0008901 Tel Hashomer camptodactyly syndrome 'Tel Hashomer camptodactyly syndrome' SubClassOf 'skeletal muscle disorder' 'Tel Hashomer camptodactyly syndrome' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0008908 MGAT2-congenital disorder of glycosylation 'MGAT2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'MGAT2-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'MGAT2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'MGAT2-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0008907 PMM2-congenital disorder of glycosylation 'PMM2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'PMM2-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'PMM2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'PMM2-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'male reproductive system disease' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'endocrine system disease' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Hypergonadotropic hypogonadism' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypergonadotropic hypogonadism' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'male reproductive system disease' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0008913 cardiac valvular defect, developmental 'cardiac valvular defect, developmental' SubClassOf 'cardiac valvular defect' 'cardiac valvular defect, developmental' SubClassOf 'disorder of development or morphogenesis' 'cardiac valvular defect, developmental' SubClassOf 'cardiac valvular defect' 'cardiac valvular defect, developmental' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008919 systemic primary carnitine deficiency disease 'systemic primary carnitine deficiency disease' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'systemic primary carnitine deficiency disease' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' 'systemic primary carnitine deficiency disease' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'systemic primary carnitine deficiency disease' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' http://purl.obolibrary.org/obo/MONDO_0008918 carnitine-acylcarnitine translocase deficiency 'carnitine-acylcarnitine translocase deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'carnitine-acylcarnitine translocase deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' http://purl.obolibrary.org/obo/MONDO_0008917 heart defects-limb shortening syndrome 'heart defects-limb shortening syndrome' SubClassOf 'congenital heart disease' 'heart defects-limb shortening syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart defects-limb shortening syndrome' SubClassOf 'autosomal recessive disease' 'heart defects-limb shortening syndrome' SubClassOf 'congenital heart disease' 'heart defects-limb shortening syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart defects-limb shortening syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008926 COFS syndrome 'COFS syndrome' SubClassOf 'syndromic microphthalmia' 'COFS syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0008925 cataract 46 juvenile-onset 'cataract 46 juvenile-onset' SubClassOf 'early-onset non-syndromic cataract' 'cataract 46 juvenile-onset' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0008924 congenital cataract-ichthyosis syndrome 'congenital cataract-ichthyosis syndrome' SubClassOf 'syndromic disease' 'congenital cataract-ichthyosis syndrome' SubClassOf 'inherited ichthyosis' 'congenital cataract-ichthyosis syndrome' SubClassOf 'syndromic disease' 'congenital cataract-ichthyosis syndrome' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'diffuse palmoplantar keratoderma' 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0008922 Sengers syndrome 'Sengers syndrome' SubClassOf 'mitochondrial DNA depletion syndrome' 'Sengers syndrome' SubClassOf 'mitochondrial substrate carrier disorder' 'Sengers syndrome' SubClassOf 'mitochondrial DNA depletion syndrome' 'Sengers syndrome' SubClassOf 'mitochondrial substrate carrier disorder' http://purl.obolibrary.org/obo/MONDO_0008928 cataract-ataxia-deafness syndrome 'cataract-ataxia-deafness syndrome' SubClassOf 'hereditary ataxia' 'cataract-ataxia-deafness syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0008938 early-onset cerebellar ataxia with retained tendon reflexes 'early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'early-onset cerebellar ataxia with retained tendon reflexes' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0008935 cerebellar ataxia-hypogonadism syndrome 'cerebellar ataxia-hypogonadism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'cerebellar ataxia-hypogonadism syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0008934 cerebellar ataxia-ectodermal dysplasia syndrome 'cerebellar ataxia-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cerebellar ataxia-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008931 Cenani-Lenz syndactyly syndrome 'Cenani-Lenz syndactyly syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Cenani-Lenz syndactyly syndrome' SubClassOf 'congenital limb malformation' 'Cenani-Lenz syndactyly syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Cenani-Lenz syndactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008939 isolated cerebellar hypoplasia/agenesis 'isolated cerebellar hypoplasia/agenesis' SubClassOf 'congenital nervous system disorder' 'isolated cerebellar hypoplasia/agenesis' SubClassOf 'disorder of development or morphogenesis' 'isolated cerebellar hypoplasia/agenesis' SubClassOf 'congenital nervous system disorder' 'isolated cerebellar hypoplasia/agenesis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008948 cerebrotendinous xanthomatosis 'cerebrotendinous xanthomatosis' SubClassOf 'syndromic dyslipidemia' 'cerebrotendinous xanthomatosis' SubClassOf 'leukodystrophy' 'cerebrotendinous xanthomatosis' SubClassOf 'xanthomatosis' 'cerebrotendinous xanthomatosis' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'cerebrotendinous xanthomatosis' SubClassOf 'cerebral lipidosis with dementia' 'cerebrotendinous xanthomatosis' SubClassOf 'subcutaneous tissue disorder' 'cerebrotendinous xanthomatosis' SubClassOf 'hereditary peripheral neuropathy' 'cerebrotendinous xanthomatosis' SubClassOf 'syndromic dyslipidemia' 'cerebrotendinous xanthomatosis' SubClassOf 'leukodystrophy' 'cerebrotendinous xanthomatosis' SubClassOf 'xanthomatosis' 'cerebrotendinous xanthomatosis' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'cerebrotendinous xanthomatosis' SubClassOf 'cerebral lipidosis with dementia' 'cerebrotendinous xanthomatosis' SubClassOf 'subcutaneous tissue disorder' 'cerebrotendinous xanthomatosis' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0008947 bilateral striopallidodentate calcinosis 'bilateral striopallidodentate calcinosis' SubClassOf 'hereditary dementia' 'bilateral striopallidodentate calcinosis' SubClassOf 'basal ganglia disease' 'bilateral striopallidodentate calcinosis' SubClassOf 'hereditary dementia' 'bilateral striopallidodentate calcinosis' SubClassOf 'basal ganglia disease' http://purl.obolibrary.org/obo/MONDO_0008944 Joubert syndrome 1 'Joubert syndrome 1' SubClassOf 'Joubert syndrome' 'Joubert syndrome 1' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0008943 autosomal recessive spinocerebellar ataxia 2 'autosomal recessive spinocerebellar ataxia 2' SubClassOf 'autosomal recessive congenital cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 2' SubClassOf 'autosomal recessive congenital cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'syndromic disease' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008959 CHAND syndrome 'CHAND syndrome' SubClassOf 'genetic disorder' 'CHAND syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008958 Klippel-Feil syndrome 2, autosomal recessive 'Klippel-Feil syndrome 2, autosomal recessive' SubClassOf 'Klippel-Feil syndrome' 'Klippel-Feil syndrome 2, autosomal recessive' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0008955 cerebrooculofacioskeletal syndrome 1 'cerebrooculofacioskeletal syndrome 1' SubClassOf 'COFS syndrome' 'cerebrooculofacioskeletal syndrome 1' SubClassOf 'COFS syndrome' http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger) 'peroxisome biogenesis disorder 2A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX5 defect' 'peroxisome biogenesis disorder 2A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX5 defect' http://purl.obolibrary.org/obo/MONDO_0008953 peroxisome biogenesis disorder 1A (Zellweger) 'peroxisome biogenesis disorder 1A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX1 defect' 'peroxisome biogenesis disorder 1A (Zellweger)' SubClassOf 'peroxisome biogenesis disorder due to PEX1 defect' http://purl.obolibrary.org/obo/MONDO_0008967 congenital bile acid synthesis defect 4 'congenital bile acid synthesis defect 4' SubClassOf 'Congenital bile acid synthesis defect' 'congenital bile acid synthesis defect 4' SubClassOf 'Alpha-methylacyl-CoA racemase deficiency' 'congenital bile acid synthesis defect 4' SubClassOf 'Congenital bile acid synthesis defect' 'congenital bile acid synthesis defect 4' SubClassOf 'Alpha-methylacyl-CoA racemase deficiency' http://purl.obolibrary.org/obo/MONDO_0008966 Aagenaes syndrome 'Aagenaes syndrome' SubClassOf 'primary lymphedema' 'Aagenaes syndrome' SubClassOf 'liver disease' 'Aagenaes syndrome' SubClassOf 'syndromic disease' 'Aagenaes syndrome' SubClassOf 'primary lymphedema' 'Aagenaes syndrome' SubClassOf 'liver disease' 'Aagenaes syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'neurocristopathy' 'CHARGE syndrome' SubClassOf 'syndromic disease' 'CHARGE syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'CHARGE syndrome' SubClassOf 'neurocristopathy' 'CHARGE syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'CHARGE syndrome' SubClassOf 'syndromic disease' 'CHARGE syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008963 Chediak-Higashi syndrome 'Chediak-Higashi syndrome' SubClassOf 'syndromic oculocutaneous albinism' 'Chediak-Higashi syndrome' SubClassOf 'inherited neurodegenerative disorder' 'Chediak-Higashi syndrome' SubClassOf 'disorder of lysosomal-related organelles' 'Chediak-Higashi syndrome' SubClassOf 'hereditary peripheral neuropathy' 'Chediak-Higashi syndrome' SubClassOf 'constitutional neutropenia' 'Chediak-Higashi syndrome' SubClassOf 'syndromic oculocutaneous albinism' 'Chediak-Higashi syndrome' SubClassOf 'inherited neurodegenerative disorder' 'Chediak-Higashi syndrome' SubClassOf 'disorder of lysosomal-related organelles' 'Chediak-Higashi syndrome' SubClassOf 'hereditary peripheral neuropathy' 'Chediak-Higashi syndrome' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0008962 Griscelli syndrome type 1 'Griscelli syndrome type 1' SubClassOf 'Griscelli syndrome' 'Griscelli syndrome type 1' SubClassOf 'Griscelli syndrome' http://purl.obolibrary.org/obo/MONDO_0008961 Charcot-Marie-Tooth disease type 4A 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4A' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'syndromic disease' 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'genetic disorder' 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'syndromic disease' 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008979 chorea, benign familial 'chorea, benign familial' SubClassOf 'chorea' 'chorea, benign familial' SubClassOf 'chorea' http://purl.obolibrary.org/obo/MONDO_0008978 chordoma 'chordoma' SubClassOf 'notochordal tumor' 'chordoma' SubClassOf 'notochordal tumor' http://purl.obolibrary.org/obo/MONDO_0008975 otospondylomegaepiphyseal dysplasia 'otospondylomegaepiphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'otospondylomegaepiphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008974 Greenberg dysplasia 'Greenberg dysplasia' SubClassOf 'laminopathy' 'Greenberg dysplasia' SubClassOf 'sterol biosynthesis disorder' 'Greenberg dysplasia' SubClassOf 'chondrodysplasia punctata' 'Greenberg dysplasia' SubClassOf 'laminopathy' 'Greenberg dysplasia' SubClassOf 'sterol biosynthesis disorder' 'Greenberg dysplasia' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0008973 chondrodysplasia punctata, Toriello type 'chondrodysplasia punctata, Toriello type' SubClassOf 'non-rhizomelic chondrodysplasia punctata' 'chondrodysplasia punctata, Toriello type' SubClassOf 'non-rhizomelic chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0008972 rhizomelic chondrodysplasia punctata type 1 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'peroxisome biogenesis disorder due to PEX7 defect' 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'peroxisome biogenesis disorder due to PEX7 defect' http://purl.obolibrary.org/obo/MONDO_0008970 chondrodysplasia Blomstrand type 'chondrodysplasia Blomstrand type' SubClassOf 'neonatal osteosclerotic dysplasia' 'chondrodysplasia Blomstrand type' SubClassOf 'neonatal osteosclerotic dysplasia' http://purl.obolibrary.org/obo/MONDO_0033946 hereditary angioedema with C1Inh deficiency 'hereditary angioedema with C1Inh deficiency' SubClassOf 'hereditary angioedema' 'hereditary angioedema with C1Inh deficiency' SubClassOf 'hereditary angioedema' http://purl.obolibrary.org/obo/MONDO_0008988 citrullinemia type I 'citrullinemia type I' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'citrullinemia type I' SubClassOf 'citrullinemia' 'citrullinemia type I' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'citrullinemia type I' SubClassOf 'citrullinemia' http://purl.obolibrary.org/obo/MONDO_0008982 central areolar choroidal dystrophy 'central areolar choroidal dystrophy' SubClassOf 'optic choroid disorder' 'central areolar choroidal dystrophy' SubClassOf 'optic choroid disorder' http://purl.obolibrary.org/obo/MONDO_0008980 ataxia-hypogonadism-choroidal dystrophy syndrome 'ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf 'hereditary ataxia' 'ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'ataxia-hypogonadism-choroidal dystrophy syndrome' SubClassOf 'hereditary ataxia' http://www.ebi.ac.uk/efo/EFO_0002610 cocaine dependence 'cocaine dependence' SubClassOf 'drug dependence' 'cocaine dependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0002613 iatrogenic Kaposi's sarcoma 'iatrogenic Kaposi's sarcoma' SubClassOf 'Kaposi's sarcoma' 'iatrogenic Kaposi's sarcoma' SubClassOf 'Kaposi's sarcoma' http://purl.obolibrary.org/obo/MONDO_0018308 liver mesenchymal hamartoma 'liver mesenchymal hamartoma' SubClassOf 'mesenchymal hamartoma' 'liver mesenchymal hamartoma' SubClassOf 'mesenchymal hamartoma' http://www.ebi.ac.uk/efo/EFO_0002615 internal carotid artery stenosis 'internal carotid artery stenosis' SubClassOf 'cerebrovascular disorder' 'internal carotid artery stenosis' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0018307 neurodegeneration with brain iron accumulation 'neurodegeneration with brain iron accumulation' SubClassOf 'iron metabolism disease' 'neurodegeneration with brain iron accumulation' SubClassOf 'neuroaxonal dystrophy' 'neurodegeneration with brain iron accumulation' SubClassOf 'hereditary dementia' 'neurodegeneration with brain iron accumulation' SubClassOf 'disease has major feature' some 'dementia' 'neurodegeneration with brain iron accumulation' SubClassOf 'inherited neurodegenerative disorder' 'neurodegeneration with brain iron accumulation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' 'neurodegeneration with brain iron accumulation' SubClassOf 'iron metabolism disease' 'neurodegeneration with brain iron accumulation' SubClassOf 'neuroaxonal dystrophy' 'neurodegeneration with brain iron accumulation' SubClassOf 'hereditary dementia' 'neurodegeneration with brain iron accumulation' SubClassOf 'inherited neurodegenerative disorder' http://www.ebi.ac.uk/efo/EFO_0002617 metastatic melanoma 'metastatic melanoma' SubClassOf 'melanoma' 'metastatic melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/MONDO_0018309 Hirschsprung disease 'Hirschsprung disease' SubClassOf 'neurocristopathy' 'Hirschsprung disease' SubClassOf 'intestinal motility disease' 'Hirschsprung disease' SubClassOf 'neurocristopathy' 'Hirschsprung disease' SubClassOf 'intestinal motility disease' http://www.ebi.ac.uk/efo/EFO_0002618 pancreatic carcinoma 'pancreatic carcinoma' SubClassOf 'Digestive System Carcinoma' 'pancreatic carcinoma' SubClassOf 'malignant exocrine pancreas neoplasm' 'pancreatic carcinoma' SubClassOf 'Digestive System Carcinoma' 'pancreatic carcinoma' SubClassOf 'malignant exocrine pancreas neoplasm' http://purl.obolibrary.org/obo/MONDO_0018306 Griscelli syndrome 'Griscelli syndrome' SubClassOf 'syndromic oculocutaneous albinism' 'Griscelli syndrome' SubClassOf 'syndromic oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0018305 chronic granulomatous disease 'chronic granulomatous disease' SubClassOf 'phagocyte bactericidal dysfunction' 'chronic granulomatous disease' SubClassOf 'disease has basis in dysfunction of' some 'NADPH oxidase complex' 'chronic granulomatous disease' SubClassOf 'phagocyte bactericidal dysfunction' 'chronic granulomatous disease' SubClassOf 'disease has basis in dysfunction of' some 'NADPH oxidase complex' http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome 'Cohen syndrome' SubClassOf 'constitutional neutropenia' 'Cohen syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cohen syndrome' SubClassOf 'syndromic intellectual disability' 'Cohen syndrome' SubClassOf 'constitutional neutropenia' 'Cohen syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Cohen syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008998 Cockayne syndrome type 3 'Cockayne syndrome type 3' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 3' SubClassOf 'Cockayne syndrome' http://purl.obolibrary.org/obo/MONDO_0008995 Yunis-Varon syndrome 'Yunis-Varon syndrome' SubClassOf 'syndromic disease' 'Yunis-Varon syndrome' SubClassOf 'skeletal dysplasia' 'Yunis-Varon syndrome' SubClassOf 'syndromic disease' 'Yunis-Varon syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008993 cleft palate-stapes fixation-oligodontia syndrome 'cleft palate-stapes fixation-oligodontia syndrome' SubClassOf 'disorder of development or morphogenesis' 'cleft palate-stapes fixation-oligodontia syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008992 Juberg-Hayward syndrome 'Juberg-Hayward syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Juberg-Hayward syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008991 Verloove Vanhorick-Brubakk syndrome 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008990 cleft larynx, posterior 'cleft larynx, posterior' SubClassOf 'laryngotracheoesophageal cleft' 'cleft larynx, posterior' SubClassOf 'laryngotracheoesophageal cleft' http://purl.obolibrary.org/obo/MONDO_0018319 familial episodic pain syndrome 'familial episodic pain syndrome' SubClassOf 'hereditary peripheral neuropathy' 'familial episodic pain syndrome' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018315 X-linked osteoporosis with fractures 'X-linked osteoporosis with fractures' SubClassOf 'osteoporosis' 'X-linked osteoporosis with fractures' SubClassOf 'osteoporosis' http://purl.obolibrary.org/obo/MONDO_0018314 infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 'infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'monogenic epilepsy' 'infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'infantile epilepsy syndrome' 'infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'monogenic epilepsy' 'infantile-onset mesial temporal lobe epilepsy with severe cognitive regression' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'syndromic disease' 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'digestive system disease' 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'genetic disorder' 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'syndromic disease' 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'digestive system disease' 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018316 fatal post-viral neurodegenerative disorder 'fatal post-viral neurodegenerative disorder' SubClassOf 'inherited neurodegenerative disorder' 'fatal post-viral neurodegenerative disorder' SubClassOf 'inherited neurodegenerative disorder' http://www.ebi.ac.uk/efo/EFO_0002609 juvenile idiopathic arthritis 'juvenile idiopathic arthritis' SubClassOf 'rheumatic disease' 'juvenile idiopathic arthritis' SubClassOf 'arthritis' 'juvenile idiopathic arthritis' SubClassOf 'rheumatic disease' 'juvenile idiopathic arthritis' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_0002630 restrictive cardiomyopathy 'restrictive cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' 'restrictive cardiomyopathy' SubClassOf 'intrinsic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0018325 juvenile myasthenia gravis 'juvenile myasthenia gravis' SubClassOf 'Myasthenia gravis' 'juvenile myasthenia gravis' SubClassOf 'Myasthenia gravis' http://purl.obolibrary.org/obo/MONDO_0018328 homozygous familial hypercholesterolemia 'homozygous familial hypercholesterolemia' SubClassOf 'familial hypercholesterolemia' 'homozygous familial hypercholesterolemia' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0018327 glomus tumor 'glomus tumor' SubClassOf 'Soft Tissue Neoplasm' 'glomus tumor' SubClassOf 'pericytic neoplasm' 'glomus tumor' SubClassOf 'Soft Tissue Neoplasm' 'glomus tumor' SubClassOf 'pericytic neoplasm' http://purl.obolibrary.org/obo/MONDO_0018322 HSD10 disease, infantile type 'HSD10 disease, infantile type' SubClassOf 'HSD10 mitochondrial disease' 'HSD10 disease, infantile type' SubClassOf 'HSD10 mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0018321 atypical juvenile parkinsonism 'atypical juvenile parkinsonism' SubClassOf 'parkinsonian disorder' 'atypical juvenile parkinsonism' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0018323 HSD10 disease, neonatal type 'HSD10 disease, neonatal type' SubClassOf 'HSD10 mitochondrial disease' 'HSD10 disease, neonatal type' SubClassOf 'HSD10 mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 'primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'syndromic disease' 'primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0002622 rotavirus infection 'rotavirus infection' SubClassOf 'disease has location' some 'digestive system' 'rotavirus infection' SubClassOf 'disease has location' some 'digestive system' http://www.ebi.ac.uk/efo/EFO_0002621 prostate intraepithelial neoplasia 'prostate intraepithelial neoplasia' SubClassOf 'prostate neoplasm' 'prostate intraepithelial neoplasia' SubClassOf 'prostate neoplasm' http://www.ebi.ac.uk/efo/EFO_0002623 septic peritonitis 'septic peritonitis' SubClassOf 'disease has location' some 'digestive system' 'septic peritonitis' SubClassOf 'bacterial disease' 'septic peritonitis' SubClassOf 'disease has location' some 'digestive system' 'septic peritonitis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0002628 peripartum cardiomyopathy 'peripartum cardiomyopathy' SubClassOf 'pregnancy disorder' 'peripartum cardiomyopathy' SubClassOf 'non-familial dilated cardiomyopathy' 'peripartum cardiomyopathy' SubClassOf 'pregnancy disorder' 'peripartum cardiomyopathy' SubClassOf 'non-familial dilated cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0002627 vulvar intraepithelial neoplasia 'vulvar intraepithelial neoplasia' SubClassOf 'vulvar squamous neoplasm' 'vulvar intraepithelial neoplasia' SubClassOf 'vulvar squamous neoplasm' http://www.ebi.ac.uk/efo/EFO_0002629 viral cardiomyopathy 'viral cardiomyopathy' SubClassOf 'dilated cardiomyopathy' 'viral cardiomyopathy' SubClassOf 'dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0018339 PrP systemic amyloidosis 'PrP systemic amyloidosis' SubClassOf 'prion disease' 'PrP systemic amyloidosis' SubClassOf 'prion disease' http://purl.obolibrary.org/obo/MONDO_0018338 activated PI3K-delta syndrome 'activated PI3K-delta syndrome' SubClassOf 'agammaglobulinemia' 'activated PI3K-delta syndrome' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0018333 multiple acyl-CoA dehydrogenase deficiency, mild type 'multiple acyl-CoA dehydrogenase deficiency, mild type' SubClassOf 'multiple acyl-CoA dehydrogenase deficiency' 'multiple acyl-CoA dehydrogenase deficiency, mild type' SubClassOf 'multiple acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0018332 multiple acyl-CoA dehydrogenase deficiency, severe neonatal type 'multiple acyl-CoA dehydrogenase deficiency, severe neonatal type' SubClassOf 'multiple acyl-CoA dehydrogenase deficiency' 'multiple acyl-CoA dehydrogenase deficiency, severe neonatal type' SubClassOf 'multiple acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0018330 mucinous adenocarcinoma of the appendix 'mucinous adenocarcinoma of the appendix' SubClassOf 'Appendix Adenocarcinoma' 'mucinous adenocarcinoma of the appendix' SubClassOf 'Appendix Adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0018349 MAN1B1-congenital disorder of glycosylation 'MAN1B1-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'MAN1B1-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0018346 ferro-cerebro-cutaneous syndrome 'ferro-cerebro-cutaneous syndrome' SubClassOf 'syndromic disease' 'ferro-cerebro-cutaneous syndrome' SubClassOf 'inherited neurodegenerative disorder' 'ferro-cerebro-cutaneous syndrome' SubClassOf 'syndromic disease' 'ferro-cerebro-cutaneous syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'short rib-polydactyly syndrome' 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' SubClassOf 'short rib-polydactyly syndrome' http://purl.obolibrary.org/obo/MONDO_0018341 3q27.3 microdeletion syndrome '3q27.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '3q27.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '3q27.3 microdeletion syndrome' SubClassOf 'syndromic intellectual disability' '3q27.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018355 SIM1-related Prader-Willi-like syndrome 'SIM1-related Prader-Willi-like syndrome' SubClassOf 'Prader-Willi-like syndrome' 'SIM1-related Prader-Willi-like syndrome' SubClassOf 'Prader-Willi-like syndrome' http://purl.obolibrary.org/obo/MONDO_0018354 Prader-Willi-like syndrome 'Prader-Willi-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi-like syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Prader-Willi-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi-like syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0018356 secondary neonatal autoimmune disease 'secondary neonatal autoimmune disease' SubClassOf 'type II hypersensitivity reaction disease' 'secondary neonatal autoimmune disease' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0018352 squamous cell carcinoma of penis 'squamous cell carcinoma of penis' SubClassOf 'squamous cell carcinoma' 'squamous cell carcinoma of penis' SubClassOf 'Penile Carcinoma' 'squamous cell carcinoma of penis' SubClassOf 'squamous cell carcinoma' 'squamous cell carcinoma of penis' SubClassOf 'Penile Carcinoma' http://purl.obolibrary.org/obo/MONDO_0018371 nebulin-related early-onset distal myopathy 'nebulin-related early-onset distal myopathy' SubClassOf 'distal myopathy' 'nebulin-related early-onset distal myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0018370 KLHL9-related early-onset distal myopathy 'KLHL9-related early-onset distal myopathy' SubClassOf 'autosomal dominant distal myopathy' 'KLHL9-related early-onset distal myopathy' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0018369 immature ovarian teratoma 'immature ovarian teratoma' SubClassOf 'ovarian biphasic or triphasic teratoma' 'immature ovarian teratoma' SubClassOf 'malignant teratoma' 'immature ovarian teratoma' SubClassOf 'ovarian biphasic or triphasic teratoma' 'immature ovarian teratoma' SubClassOf 'malignant teratoma' http://purl.obolibrary.org/obo/MONDO_0018365 malignant non-epithelial tumor of ovary 'malignant non-epithelial tumor of ovary' SubClassOf 'ovarian cancer' 'malignant non-epithelial tumor of ovary' SubClassOf 'ovarian cancer' http://purl.obolibrary.org/obo/MONDO_0018364 malignant epithelial tumor of ovary 'malignant epithelial tumor of ovary' SubClassOf 'ovarian cancer' 'malignant epithelial tumor of ovary' SubClassOf 'ovarian epithelial tumor' 'malignant epithelial tumor of ovary' SubClassOf 'ovarian cancer' 'malignant epithelial tumor of ovary' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0018363 focal facial dermal dysplasia 'focal facial dermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'focal facial dermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0018379 primary avascular necrosis 'primary avascular necrosis' SubClassOf 'avascular necrosis' 'primary avascular necrosis' SubClassOf 'avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0018373 avascular necrosis 'avascular necrosis' SubClassOf 'osteonecrosis' 'avascular necrosis' SubClassOf 'osteonecrosis' http://purl.obolibrary.org/obo/MONDO_0018374 secondary avascular necrosis 'secondary avascular necrosis' SubClassOf 'avascular necrosis' 'secondary avascular necrosis' SubClassOf 'avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0018394 male infertility with teratozoospermia due to single gene mutation 'male infertility with teratozoospermia due to single gene mutation' SubClassOf 'male infertility' 'male infertility with teratozoospermia due to single gene mutation' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0043364 eosinophil peroxidase deficiency 'eosinophil peroxidase deficiency' SubClassOf 'leukocyte disorder' 'eosinophil peroxidase deficiency' SubClassOf 'leukocyte disorder' http://purl.obolibrary.org/obo/MONDO_0008806 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome' SubClassOf 'genetic disorder' 'Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008803 Antley-Bixler syndrome 'Antley-Bixler syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Antley-Bixler syndrome' SubClassOf 'syndromic craniosynostosis' 'Antley-Bixler syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Antley-Bixler syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0008800 microphthalmia with limb anomalies 'microphthalmia with limb anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'microphthalmia with limb anomalies' SubClassOf 'autosomal recessive disease' 'microphthalmia with limb anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'microphthalmia with limb anomalies' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008809 polyneuropathy-hand defect syndrome 'polyneuropathy-hand defect syndrome' SubClassOf 'hereditary sensory and autonomic neuropathy' 'polyneuropathy-hand defect syndrome' SubClassOf 'hereditary motor and sensory neuropathy' 'polyneuropathy-hand defect syndrome' SubClassOf 'hereditary sensory and autonomic neuropathy' 'polyneuropathy-hand defect syndrome' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0008808 aplasia cutis congenita-intestinal lymphangiectasia syndrome 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'syndromic disease' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'primary lymphedema' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'intestinal disease' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'mixed dermis disorder' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'syndromic disease' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'intestinal disease' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'primary lymphedema' 'aplasia cutis congenita-intestinal lymphangiectasia syndrome' SubClassOf 'mixed dermis disorder' http://purl.obolibrary.org/obo/MONDO_0008817 arterial calcification, generalized, of infancy, 1 'arterial calcification, generalized, of infancy, 1' SubClassOf 'arterial calcification of infancy' 'arterial calcification, generalized, of infancy, 1' SubClassOf 'arterial calcification of infancy' http://purl.obolibrary.org/obo/MONDO_0008816 Chiari malformation type II 'Chiari malformation type II' SubClassOf 'Chiari malformation' 'Chiari malformation type II' SubClassOf 'spina bifida cystica' 'Chiari malformation type II' SubClassOf 'Chiari malformation' 'Chiari malformation type II' SubClassOf 'spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0008815 argininosuccinic aciduria 'argininosuccinic aciduria' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'argininosuccinic aciduria' SubClassOf 'urea cycle disorder or inherited hyperammonemia' http://purl.obolibrary.org/obo/MONDO_0008814 hyperargininemia 'hyperargininemia' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'hyperargininemia' SubClassOf 'urea cycle disorder or inherited hyperammonemia' http://purl.obolibrary.org/obo/MONDO_0008813 arachnoid cyst 'arachnoid cyst' SubClassOf 'central nervous system malformation' 'arachnoid cyst' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0008812 AREDYLD syndrome 'AREDYLD syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'AREDYLD syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008810 familial apolipoprotein C-II deficiency 'familial apolipoprotein C-II deficiency' SubClassOf 'familial chylomicronemia syndrome' 'familial apolipoprotein C-II deficiency' SubClassOf 'familial hyperlipidemia' 'familial apolipoprotein C-II deficiency' SubClassOf 'familial chylomicronemia syndrome' 'familial apolipoprotein C-II deficiency' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0008818 arterial tortuosity syndrome 'arterial tortuosity syndrome' SubClassOf 'inherited cutis laxa' 'arterial tortuosity syndrome' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0008827 progressive pseudorheumatoid arthropathy of childhood 'progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'spondyloepiphyseal dysplasia' 'progressive pseudorheumatoid arthropathy of childhood' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008826 arthrogryposis-hyperkeratosis syndrome, lethal form 'arthrogryposis-hyperkeratosis syndrome, lethal form' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis-hyperkeratosis syndrome, lethal form' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0008825 arthrogryposis multiplex congenita-whistling face syndrome 'arthrogryposis multiplex congenita-whistling face syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita-whistling face syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0008824 fetal akinesia deformation sequence 'fetal akinesia deformation sequence' SubClassOf 'arthrogryposis multiplex congenita' 'fetal akinesia deformation sequence' SubClassOf 'syndromic disease' 'fetal akinesia deformation sequence' SubClassOf 'thoracic malformation' 'fetal akinesia deformation sequence' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'fetal akinesia deformation sequence' SubClassOf 'arthrogryposis multiplex congenita' 'fetal akinesia deformation sequence' SubClassOf 'syndromic disease' 'fetal akinesia deformation sequence' SubClassOf 'thoracic malformation' 'fetal akinesia deformation sequence' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008823 arthrogryposis multiplex congenita 2, neurogenic type 'arthrogryposis multiplex congenita 2, neurogenic type' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita 2, neurogenic type' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0008838 ataxia - deafness - intellectual disability syndrome 'ataxia - deafness - intellectual disability syndrome' SubClassOf 'X-linked cerebellar ataxia' 'ataxia - deafness - intellectual disability syndrome' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0008834 asthma, nasal polyps, and aspirin intolerance 'asthma, nasal polyps, and aspirin intolerance' SubClassOf 'genetic disorder' 'asthma, nasal polyps, and aspirin intolerance' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008833 renal-hepatic-pancreatic dysplasia 1 'renal-hepatic-pancreatic dysplasia 1' SubClassOf 'renal-hepatic-pancreatic dysplasia' 'renal-hepatic-pancreatic dysplasia 1' SubClassOf 'renal-hepatic-pancreatic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008832 right atrial isomerism 'right atrial isomerism' SubClassOf 'visceral heterotaxy' 'right atrial isomerism' SubClassOf 'visceral heterotaxy' http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria 'aspartylglucosaminuria' SubClassOf 'oligosaccharidosis' 'aspartylglucosaminuria' SubClassOf 'lysosomal storage disease with skeletal involvement' 'aspartylglucosaminuria' SubClassOf 'oligosaccharidosis' 'aspartylglucosaminuria' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0008849 atrophoderma vermiculata 'atrophoderma vermiculata' SubClassOf 'keratosis pilaris atrophicans' 'atrophoderma vermiculata' SubClassOf 'keratosis pilaris atrophicans' http://purl.obolibrary.org/obo/MONDO_0008848 atrioventricular dissociation 'atrioventricular dissociation' SubClassOf 'genetic disorder' 'atrioventricular dissociation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008847 atrichia with papular lesions 'atrichia with papular lesions' SubClassOf 'alopecia' 'atrichia with papular lesions' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0008846 atransferrinemia 'atransferrinemia' SubClassOf 'disorder of iron metabolism and transport' 'atransferrinemia' SubClassOf 'inborn metal metabolism disorder' 'atransferrinemia' SubClassOf 'disorder of iron metabolism and transport' 'atransferrinemia' SubClassOf 'inborn metal metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf 'genetic disorder' 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 'ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia' SubClassOf 'DNA repair deficiency' 'ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia 'ataxia telangiectasia' SubClassOf 'combined immunodeficiency' 'ataxia telangiectasia' SubClassOf 'inherited primary ovarian failure' 'ataxia telangiectasia' SubClassOf 'combined immunodeficiency' 'ataxia telangiectasia' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0008858 Behr syndrome 'Behr syndrome' SubClassOf 'OPA1-related optic atrophy with or without extraocular features' 'Behr syndrome' SubClassOf 'OPA1-related optic atrophy with or without extraocular features' http://purl.obolibrary.org/obo/MONDO_0008857 Beemer-Ertbruggen syndrome 'Beemer-Ertbruggen syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Beemer-Ertbruggen syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008855 MHC class II deficiency 'MHC class II deficiency' SubClassOf 'familial severe combined immunodeficiency' 'MHC class II deficiency' SubClassOf 'familial severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0008853 Barber-Say syndrome 'Barber-Say syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Barber-Say syndrome' SubClassOf 'congenital entropion' 'Barber-Say syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Barber-Say syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Barber-Say syndrome' SubClassOf 'congenital entropion' 'Barber-Say syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008850 Cooper-Jabs syndrome 'Cooper-Jabs syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cooper-Jabs syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008869 Seckel syndrome 1 'Seckel syndrome 1' SubClassOf 'Seckel syndrome' 'Seckel syndrome 1' SubClassOf 'Seckel syndrome' http://purl.obolibrary.org/obo/MONDO_0008867 biliary atresia 'biliary atresia' SubClassOf 'cholestasis' 'biliary atresia' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'biliary atresia' SubClassOf 'cholestasis' 'biliary atresia' SubClassOf 'Non-Neoplastic Bile Duct Disorder' http://purl.obolibrary.org/obo/MONDO_0008866 bifid nose, autosomal recessive 'bifid nose, autosomal recessive' SubClassOf 'bifid nose' 'bifid nose, autosomal recessive' SubClassOf 'bifid nose' http://purl.obolibrary.org/obo/MONDO_0008865 Bietti crystalline corneoretinal dystrophy 'Bietti crystalline corneoretinal dystrophy' SubClassOf 'familial flecked retinopathy' 'Bietti crystalline corneoretinal dystrophy' SubClassOf 'familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0008864 Biemond syndrome type 2 'Biemond syndrome type 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Biemond syndrome type 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008863 sitosterolemia 'sitosterolemia' SubClassOf 'syndromic dyslipidemia' 'sitosterolemia' SubClassOf 'syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency '3-methylcrotonyl-CoA carboxylase 2 deficiency' SubClassOf '3-methylcrotonyl-CoA carboxylase deficiency' '3-methylcrotonyl-CoA carboxylase 2 deficiency' SubClassOf '3-methylcrotonyl-CoA carboxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0008860 beta-aminoisobutyric acid, urinary excretion of 'beta-aminoisobutyric acid, urinary excretion of' SubClassOf 'genetic disorder' 'beta-aminoisobutyric acid, urinary excretion of' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008879 Bowen-Conradi syndrome 'Bowen-Conradi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bowen-Conradi syndrome' SubClassOf 'autosomal recessive disease' 'Bowen-Conradi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bowen-Conradi syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008878 bone dysplasia, lethal Holmgren type 'bone dysplasia, lethal Holmgren type' SubClassOf 'osteochondrodysplasia' 'bone dysplasia, lethal Holmgren type' SubClassOf 'skeletal dysplasia' 'bone dysplasia, lethal Holmgren type' SubClassOf 'osteochondrodysplasia' 'bone dysplasia, lethal Holmgren type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008877 blue diaper syndrome 'blue diaper syndrome' SubClassOf 'inborn disorder of amino acid transport' 'blue diaper syndrome' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome 'Bloom syndrome' SubClassOf 'syndromic disease' 'Bloom syndrome' SubClassOf 'autosomal recessive disease' 'Bloom syndrome' SubClassOf 'disorder of development or morphogenesis' 'Bloom syndrome' SubClassOf 'chromosomal disorder' 'Bloom syndrome' SubClassOf 'microcephaly, growth restriction and increased sister chromatid exchange' 'Bloom syndrome' SubClassOf 'hereditary photodermatosis' 'Bloom syndrome' SubClassOf 'hematologic disease' 'Bloom syndrome' SubClassOf 'syndromic disease' 'Bloom syndrome' SubClassOf 'autosomal recessive disease' 'Bloom syndrome' SubClassOf 'disorder of development or morphogenesis' 'Bloom syndrome' SubClassOf 'chromosomal disorder' 'Bloom syndrome' SubClassOf 'microcephaly, growth restriction and increased sister chromatid exchange' 'Bloom syndrome' SubClassOf 'hereditary photodermatosis' 'Bloom syndrome' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf 'syndromic disease' 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf 'syndromic disease' 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008874 Bangstad syndrome 'Bangstad syndrome' SubClassOf 'polyendocrinopathy' 'Bangstad syndrome' SubClassOf 'polyendocrinopathy' http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'osteochondrodysplasia' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'microcephalic osteodysplastic primordial dwarfism' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'osteochondrodysplasia' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf 'microcephalic osteodysplastic primordial dwarfism' http://purl.obolibrary.org/obo/MONDO_0008871 microcephalic osteodysplastic primordial dwarfism type I 'microcephalic osteodysplastic primordial dwarfism type I' SubClassOf 'RNU4ATAC spectrum disorder' 'microcephalic osteodysplastic primordial dwarfism type I' SubClassOf 'microcephalic osteodysplastic primordial dwarfism' 'microcephalic osteodysplastic primordial dwarfism type I' SubClassOf 'microcephalic osteodysplastic primordial dwarfism types I and III' 'microcephalic osteodysplastic primordial dwarfism type I' SubClassOf 'osteochondrodysplasia' 'microcephalic osteodysplastic primordial dwarfism type I' SubClassOf 'microcephalic osteodysplastic primordial dwarfism' 'microcephalic osteodysplastic primordial dwarfism type I' SubClassOf 'RNU4ATAC spectrum disorder' 'microcephalic osteodysplastic primordial dwarfism type I' SubClassOf 'microcephalic osteodysplastic primordial dwarfism types I and III' 'microcephalic osteodysplastic primordial dwarfism type I' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0008870 bird headed-dwarfism, Montreal type 'bird headed-dwarfism, Montreal type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'bird headed-dwarfism, Montreal type' SubClassOf 'skeletal dysplasia' 'bird headed-dwarfism, Montreal type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'bird headed-dwarfism, Montreal type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008887 bronchiectasis with or without elevated sweat chloride 1 'bronchiectasis with or without elevated sweat chloride 1' SubClassOf 'idiopathic bronchiectasis' 'bronchiectasis with or without elevated sweat chloride 1' SubClassOf 'idiopathic bronchiectasis' http://purl.obolibrary.org/obo/MONDO_0008885 Elsahy-Waters syndrome 'Elsahy-Waters syndrome' SubClassOf 'genetic disorder' 'Elsahy-Waters syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Elsahy-Waters syndrome' SubClassOf 'syndromic disease' 'Elsahy-Waters syndrome' SubClassOf 'genetic disorder' 'Elsahy-Waters syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Elsahy-Waters syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0002510 serous cystadenofibroma 'serous cystadenofibroma' SubClassOf 'fibroma' 'serous cystadenofibroma' SubClassOf 'fibroma' http://purl.obolibrary.org/obo/MONDO_0008884 oculoosteocutaneous syndrome 'oculoosteocutaneous syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'oculoosteocutaneous syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008882 congenital bowing of long bones 'congenital bowing of long bones' SubClassOf 'bent bone dysplasia' 'congenital bowing of long bones' SubClassOf 'congenital deformities of limbs' 'congenital bowing of long bones' SubClassOf 'bent bone dysplasia' 'congenital bowing of long bones' SubClassOf 'congenital deformities of limbs' http://www.ebi.ac.uk/efo/EFO_0002511 simple cystadenoma 'simple cystadenoma' SubClassOf 'cystadenoma' 'simple cystadenoma' SubClassOf 'cystadenoma' http://purl.obolibrary.org/obo/MONDO_0008881 kyphomelic dysplasia 'kyphomelic dysplasia' SubClassOf 'bent bone dysplasia' 'kyphomelic dysplasia' SubClassOf 'bent bone dysplasia' http://purl.obolibrary.org/obo/MONDO_0018209 Alexander disease type I 'Alexander disease type I' SubClassOf 'Alexander disease' 'Alexander disease type I' SubClassOf 'Alexander disease' http://purl.obolibrary.org/obo/MONDO_0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 'neurofibromatosis type 1 due to NF1 mutation or intragenic deletion' SubClassOf 'neurofibromatosis type 1' 'neurofibromatosis type 1 due to NF1 mutation or intragenic deletion' SubClassOf 'neurofibromatosis type 1' http://purl.obolibrary.org/obo/MONDO_0018205 distal monosomy 1q 'distal monosomy 1q' SubClassOf 'chromosome 1q deletion' 'distal monosomy 1q' SubClassOf 'chromosome 1q deletion' http://purl.obolibrary.org/obo/MONDO_0018204 20q11.2 microduplication syndrome '20q11.2 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20q11.2 microduplication syndrome' SubClassOf 'partial trisomy of the long arm of chromosome 20' '20q11.2 microduplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '20q11.2 microduplication syndrome' SubClassOf 'partial trisomy of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0018207 2p13.2 microdeletion syndrome '2p13.2 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' '2p13.2 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '2p13.2 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' '2p13.2 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia 'childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'hereditary inclusion-body myopathy' 'childhood-onset autosomal recessive myopathy with external ophthalmoplegia' SubClassOf 'hereditary inclusion-body myopathy' http://purl.obolibrary.org/obo/MONDO_0018201 extragonadal germ cell tumor 'extragonadal germ cell tumor' SubClassOf 'germ cell tumor' 'extragonadal germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0018203 LMNA-related cardiocutaneous progeria syndrome 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'premature aging syndrome' 'LMNA-related cardiocutaneous progeria syndrome' SubClassOf 'premature aging syndrome' http://purl.obolibrary.org/obo/MONDO_0018202 gonadal germ cell tumor 'gonadal germ cell tumor' SubClassOf 'germ cell tumor' 'gonadal germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0033838 radiation-induced plexopathy 'radiation-induced plexopathy' SubClassOf 'acquired peripheral neuropathy' 'radiation-induced plexopathy' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0008899 camptodactyly syndrome, Guadalajara type 2 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'camptodactyly syndrome, Guadalajara' 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'camptodactyly syndrome, Guadalajara' 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008898 camptodactyly syndrome, Guadalajara type 1 'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'camptodactyly syndrome, Guadalajara' 'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'camptodactyly syndrome, Guadalajara' http://purl.obolibrary.org/obo/MONDO_0008896 campomelia, Cumming type 'campomelia, Cumming type' SubClassOf 'syndromic disease' 'campomelia, Cumming type' SubClassOf 'bent bone dysplasia' 'campomelia, Cumming type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'campomelia, Cumming type' SubClassOf 'syndromic disease' 'campomelia, Cumming type' SubClassOf 'bent bone dysplasia' 'campomelia, Cumming type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008895 hereditary arterial and articular multiple calcification syndrome 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'vascular disease' 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0008894 cataract-hypertrichosis-intellectual disability syndrome 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'hypertrichosis' 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0008893 C syndrome 'C syndrome' SubClassOf 'syndromic craniosynostosis' 'C syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'C syndrome' SubClassOf 'syndromic craniosynostosis' 'C syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_0002501 anaplastic oligodendroglioma 'anaplastic oligodendroglioma' SubClassOf 'oligodendroglial tumor' 'anaplastic oligodendroglioma' SubClassOf 'grade III glioma' 'anaplastic oligodendroglioma' SubClassOf 'oligodendroglial tumor' 'anaplastic oligodendroglioma' SubClassOf 'grade III glioma' http://purl.obolibrary.org/obo/MONDO_0008892 progressive familial intrahepatic cholestasis type 1 'progressive familial intrahepatic cholestasis type 1' SubClassOf 'progressive familial intrahepatic cholestasis' 'progressive familial intrahepatic cholestasis type 1' SubClassOf 'progressive familial intrahepatic cholestasis' http://www.ebi.ac.uk/efo/EFO_0002500 anaplastic oligoastrocytoma 'anaplastic oligoastrocytoma' SubClassOf 'grade III glioma' 'anaplastic oligoastrocytoma' SubClassOf 'anaplastic cancer' 'anaplastic oligoastrocytoma' SubClassOf 'grade III glioma' 'anaplastic oligoastrocytoma' SubClassOf 'anaplastic cancer' http://purl.obolibrary.org/obo/MONDO_0008891 riboflavin transporter deficiency 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'Sensorineural hearing impairment' 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'bulbospinal muscular atrophy' 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'bulbospinal muscular atrophy' 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Sensorineural hearing impairment' http://www.ebi.ac.uk/efo/EFO_0002502 benign insulitis 'benign insulitis' SubClassOf 'immune system disease' 'benign insulitis' SubClassOf 'disease has location' some 'islet of Langerhans' 'benign insulitis' SubClassOf 'immune system disease' 'benign insulitis' SubClassOf 'disease has location' some 'islet of Langerhans' http://www.ebi.ac.uk/efo/EFO_0002504 serous cystadenoma 'serous cystadenoma' SubClassOf 'cystadenoma' 'serous cystadenoma' SubClassOf 'cystadenoma' http://www.ebi.ac.uk/efo/EFO_0002507 ovarian adenoma benign 'ovarian adenoma benign' SubClassOf 'adenoma' 'ovarian adenoma benign' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_0002509 progressive external ophthalmoplegia 'progressive external ophthalmoplegia' SubClassOf 'inborn mitochondrial myopathy' 'progressive external ophthalmoplegia' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome 'Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome' SubClassOf 'Koolen-de Vries syndrome' 'Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 17' 'Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome' SubClassOf 'Koolen-de Vries syndrome' 'Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0018215 paraneoplastic neurologic syndrome 'paraneoplastic neurologic syndrome' SubClassOf 'nervous system disease' 'paraneoplastic neurologic syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic neurologic syndrome' SubClassOf 'nervous system disease' 'paraneoplastic neurologic syndrome' SubClassOf 'paraneoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0018218 autosomal recessive cerebral atrophy 'autosomal recessive cerebral atrophy' SubClassOf 'inherited neurodegenerative disorder' 'autosomal recessive cerebral atrophy' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0018217 Koolen-de Vries syndrome due to a point mutation 'Koolen-de Vries syndrome due to a point mutation' SubClassOf 'Koolen-de Vries syndrome' 'Koolen-de Vries syndrome due to a point mutation' SubClassOf 'Koolen-de Vries syndrome' http://purl.obolibrary.org/obo/MONDO_0018212 familial cervical artery dissection 'familial cervical artery dissection' SubClassOf 'cervical artery dissection' 'familial cervical artery dissection' SubClassOf 'cervical artery dissection' http://purl.obolibrary.org/obo/MONDO_0018214 generalized epilepsy with febrile seizures plus 'generalized epilepsy with febrile seizures plus' SubClassOf 'epilepsy' 'generalized epilepsy with febrile seizures plus' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0018213 hereditary sensory and autonomic neuropathy type 1 'hereditary sensory and autonomic neuropathy type 1' SubClassOf 'hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 1' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0018210 Alexander disease type II 'Alexander disease type II' SubClassOf 'Alexander disease' 'Alexander disease type II' SubClassOf 'Alexander disease' http://purl.obolibrary.org/obo/MONDO_0018226 infantile epileptic-dyskinetic encephalopathy 'infantile epileptic-dyskinetic encephalopathy' SubClassOf 'combined dystonia' 'infantile epileptic-dyskinetic encephalopathy' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0018228 bipartite talus 'bipartite talus' SubClassOf 'genetic disorder' 'bipartite talus' SubClassOf 'dysostosis' 'bipartite talus' SubClassOf 'genetic disorder' 'bipartite talus' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'syndromic disease' 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'movement disorder' 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'syndromic disease' 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0018237 acrofacial dysostosis 'acrofacial dysostosis' SubClassOf 'dysostosis' 'acrofacial dysostosis' SubClassOf 'genetic disorder' 'acrofacial dysostosis' SubClassOf 'dysostosis' 'acrofacial dysostosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis 'dysostosis' SubClassOf 'bone development disease' 'dysostosis' SubClassOf 'bone development disease' http://purl.obolibrary.org/obo/MONDO_0018233 otopalatodigital syndrome spectrum disorder 'otopalatodigital syndrome spectrum disorder' SubClassOf 'filamin-related bone disorder' 'otopalatodigital syndrome spectrum disorder' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0018230 skeletal dysplasia 'skeletal dysplasia' SubClassOf 'bone disease' 'skeletal dysplasia' SubClassOf 'genetic disorder' 'skeletal dysplasia' SubClassOf 'bone disease' 'skeletal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018250 diffuse palmoplantar keratoderma with painful fissures 'diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'diffuse palmoplantar keratoderma' 'diffuse palmoplantar keratoderma with painful fissures' SubClassOf 'diffuse palmoplantar keratoderma' http://www.ebi.ac.uk/efo/EFO_0002431 tumour of cranial and spinal nerves 'tumour of cranial and spinal nerves' SubClassOf 'peripheral nervous system disease' 'tumour of cranial and spinal nerves' SubClassOf 'nervous system neoplasm' 'tumour of cranial and spinal nerves' SubClassOf 'nervous system neoplasm' 'tumour of cranial and spinal nerves' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_0002430 primary myelofibrosis 'primary myelofibrosis' SubClassOf 'chronic myeloproliferative disorder' 'primary myelofibrosis' SubClassOf 'chronic myeloproliferative disorder' http://purl.obolibrary.org/obo/MONDO_0018249 finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome 'finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome' SubClassOf 'syndromic disease' 'finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018248 intellectual disability-seizures-macrocephaly-obesity syndrome 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disorder 'neurovascular disorder' SubClassOf 'nervous system disease' 'neurovascular disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0033885 mitochondrial complex IV deficiency, nuclear-type 'mitochondrial complex IV deficiency, nuclear-type' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex IV deficiency, nuclear-type' SubClassOf 'mitochondrial complex deficiency' http://purl.obolibrary.org/obo/MONDO_0018247 CADDS 'CADDS' SubClassOf 'leukodystrophy' 'CADDS' SubClassOf 'peroxisomal disease' 'CADDS' SubClassOf 'syndromic disease' 'CADDS' SubClassOf 'developmental anomaly of metabolic origin' 'CADDS' SubClassOf 'peroxisomal disease' 'CADDS' SubClassOf 'leukodystrophy' 'CADDS' SubClassOf 'syndromic disease' 'CADDS' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0018240 TRPV4-related bone disorder 'TRPV4-related bone disorder' SubClassOf 'skeletal dysplasia' 'TRPV4-related bone disorder' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 'intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'movement disorder' 'intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0018242 autoimmune hypoparathyroidism 'autoimmune hypoparathyroidism' SubClassOf 'hypoparathyroidism' 'autoimmune hypoparathyroidism' SubClassOf 'hypoparathyroidism' http://www.ebi.ac.uk/efo/EFO_0002422 benign neoplasm 'benign neoplasm' SubClassOf 'neoplasm' 'benign neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0043224 multi-infarct dementia 'multi-infarct dementia' SubClassOf 'vascular dementia' 'multi-infarct dementia' SubClassOf 'cerebral infarction' 'multi-infarct dementia' SubClassOf 'vascular dementia' 'multi-infarct dementia' SubClassOf 'cerebral infarction' http://www.ebi.ac.uk/efo/EFO_0002424 fibroma 'fibroma' SubClassOf 'Fibroblastic Neoplasm' 'fibroma' SubClassOf 'Fibroblastic Neoplasm' http://www.ebi.ac.uk/efo/EFO_0002423 osteoma 'osteoma' SubClassOf 'bone benign neoplasm' 'osteoma' SubClassOf 'bone benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0002426 neoplasm of mature T-cells or NK-cells 'neoplasm of mature T-cells or NK-cells' SubClassOf 'T-cell and NK-cell neoplasm' 'neoplasm of mature T-cells or NK-cells' SubClassOf 'T-cell and NK-cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0002425 neoplasm of immature B and T cells 'neoplasm of immature B and T cells' SubClassOf 'lymphoid neoplasm' 'neoplasm of immature B and T cells' SubClassOf 'lymphoid neoplasm' http://www.ebi.ac.uk/efo/EFO_0002428 chronic myeloproliferative disorder 'chronic myeloproliferative disorder' SubClassOf 'myeloid hemopathy' 'chronic myeloproliferative disorder' SubClassOf 'bone marrow cancer' 'chronic myeloproliferative disorder' SubClassOf 'myeloid neoplasm' 'chronic myeloproliferative disorder' SubClassOf 'myeloid hemopathy' 'chronic myeloproliferative disorder' SubClassOf 'bone marrow cancer' 'chronic myeloproliferative disorder' SubClassOf 'myeloid neoplasm' http://www.ebi.ac.uk/efo/EFO_0002427 myeloid neoplasm 'myeloid neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'myeloid neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0002429 polycythemia vera 'polycythemia vera' SubClassOf 'erythroid neoplasm' 'polycythemia vera' SubClassOf 'polycythemia' 'polycythemia vera' SubClassOf 'erythroid neoplasm' 'polycythemia vera' SubClassOf 'polycythemia' http://purl.obolibrary.org/obo/MONDO_0018255 spondylometaphyseal dysplasia, Czarny-Ratajczak type 'spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Czarny-Ratajczak type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0018257 familial syringomyelia 'familial syringomyelia' SubClassOf 'primary syringomyelia' 'familial syringomyelia' SubClassOf 'primary syringomyelia' http://purl.obolibrary.org/obo/MONDO_0018252 focal palmoplantar keratoderma with joint keratoses 'focal palmoplantar keratoderma with joint keratoses' SubClassOf 'focal palmoplantar keratoderma' 'focal palmoplantar keratoderma with joint keratoses' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0018254 spondyloepimetaphyseal dysplasia, Isidor type 'spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome 'intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-facial dysmorphism-hand anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018271 peripheral primitive neuroectodermal tumor 'peripheral primitive neuroectodermal tumor' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'peripheral primitive neuroectodermal tumor' SubClassOf 'primitive neuroectodermal tumor' 'peripheral primitive neuroectodermal tumor' SubClassOf 'peripheral nervous system cancer' 'peripheral primitive neuroectodermal tumor' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' 'peripheral primitive neuroectodermal tumor' SubClassOf 'primitive neuroectodermal tumor' 'peripheral primitive neuroectodermal tumor' SubClassOf 'peripheral nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0018267 combined cervical dystonia 'combined cervical dystonia' SubClassOf 'combined dystonia' 'combined cervical dystonia' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0018266 ataxia - telangiectasia variant 'ataxia - telangiectasia variant' SubClassOf 'syndromic disease' 'ataxia - telangiectasia variant' SubClassOf 'disease shares features of' some 'ataxia telangiectasia' 'ataxia - telangiectasia variant' SubClassOf 'combined dystonia' 'ataxia - telangiectasia variant' SubClassOf 'syndromic disease' 'ataxia - telangiectasia variant' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'ataxia telangiectasia' 'ataxia - telangiectasia variant' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0018269 white platelet syndrome 'white platelet syndrome' SubClassOf 'alpha granule disease' 'white platelet syndrome' SubClassOf 'alpha granule disease' http://purl.obolibrary.org/obo/MONDO_0018268 Medich giant platelet syndrome 'Medich giant platelet syndrome' SubClassOf 'alpha granule disease' 'Medich giant platelet syndrome' SubClassOf 'alpha granule disease' http://purl.obolibrary.org/obo/MONDO_0018264 oculocutaneous albinism type 6 'oculocutaneous albinism type 6' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 6' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0018281 congenital muscular dystrophy with hyperlaxity 'congenital muscular dystrophy with hyperlaxity' SubClassOf 'congenital muscular dystrophy' 'congenital muscular dystrophy with hyperlaxity' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy 'muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'cobblestone lissencephaly' 'muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'cobblestone lissencephaly' http://purl.obolibrary.org/obo/MONDO_0018282 qualitative or quantitative defects of alpha-dystroglycan 'qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' 'qualitative or quantitative defects of alpha-dystroglycan' SubClassOf 'qualitative or quantitative protein defects in neuromuscular diseases' http://purl.obolibrary.org/obo/MONDO_0043209 albinism 'albinism' SubClassOf 'inborn disorder of amino acid metabolism' 'albinism' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0018278 congenital muscular dystrophy with intellectual disability 'congenital muscular dystrophy with intellectual disability' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'congenital muscular dystrophy with intellectual disability' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0018274 GM3 synthase deficiency 'GM3 synthase deficiency' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'GM3 synthase deficiency' SubClassOf 'autosomal recessive disease' 'GM3 synthase deficiency' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'GM3 synthase deficiency' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0018273 XYLT1-congenital disorder of glycosylation 'XYLT1-congenital disorder of glycosylation' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'XYLT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation' 'XYLT1-congenital disorder of glycosylation' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'XYLT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0018276 muscular dystrophy-dystroglycanopathy 'muscular dystrophy-dystroglycanopathy' SubClassOf 'congenital muscular dystrophy' 'muscular dystrophy-dystroglycanopathy' SubClassOf 'congenital muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0002461 skeletal system disease 'skeletal system disease' SubClassOf 'musculoskeletal system disease' 'skeletal system disease' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0018298 multicentric osteolysis-nodulosis-arthropathy spectrum 'multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'primary osteolysis' 'multicentric osteolysis-nodulosis-arthropathy spectrum' SubClassOf 'primary osteolysis' http://www.ebi.ac.uk/efo/EFO_0002497 acute hypotension 'acute hypotension' SubClassOf 'hypotension' 'acute hypotension' SubClassOf 'hypotension' http://www.ebi.ac.uk/efo/EFO_0002496 actinic keratosis 'actinic keratosis' SubClassOf 'skin neoplasm' 'actinic keratosis' SubClassOf 'pre-malignant neoplasm' 'actinic keratosis' SubClassOf 'skin neoplasm' 'actinic keratosis' SubClassOf 'pre-malignant neoplasm' http://www.ebi.ac.uk/efo/EFO_0002499 anaplastic astrocytoma 'anaplastic astrocytoma' SubClassOf 'astrocytoma' 'anaplastic astrocytoma' SubClassOf 'high grade astrocytic tumor' 'anaplastic astrocytoma' SubClassOf 'astrocytoma' 'anaplastic astrocytoma' SubClassOf 'high grade astrocytic tumor' http://www.ebi.ac.uk/efo/EFO_0002498 aggressive insulitis 'aggressive insulitis' SubClassOf 'immune system disease' 'aggressive insulitis' SubClassOf 'disease has location' some 'islet of Langerhans' 'aggressive insulitis' SubClassOf 'immune system disease' 'aggressive insulitis' SubClassOf 'disease has location' some 'islet of Langerhans' http://purl.obolibrary.org/obo/MONDO_0043237 glossodynia 'glossodynia' SubClassOf 'tongue disorder' 'glossodynia' SubClassOf 'neurological pain disorder' 'glossodynia' SubClassOf 'tongue disorder' 'glossodynia' SubClassOf 'neurological pain disorder' http://purl.obolibrary.org/obo/MONDO_0043243 leukoplakia 'leukoplakia' SubClassOf 'precancerous condition' 'leukoplakia' SubClassOf 'precancerous condition' http://purl.obolibrary.org/obo/MONDO_0008707 acro-renal-mandibular syndrome 'acro-renal-mandibular syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acro-renal-mandibular syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008706 Ackerman syndrome 'Ackerman syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Ackerman syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ackerman syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Ackerman syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008705 lysosomal acid phosphatase deficiency 'lysosomal acid phosphatase deficiency' SubClassOf 'lysosomal storage disease' 'lysosomal acid phosphatase deficiency' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0008704 short-limb skeletal dysplasia with severe combined immunodeficiency 'short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'short-limb skeletal dysplasia with severe combined immunodeficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0008703 acromesomelic dysplasia 2A 'acromesomelic dysplasia 2A' SubClassOf 'achondrogenesis' 'acromesomelic dysplasia 2A' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 2A' SubClassOf 'achondrogenesis' 'acromesomelic dysplasia 2A' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008702 achondrogenesis type II 'achondrogenesis type II' SubClassOf 'achondrogenesis' 'achondrogenesis type II' SubClassOf 'type 2 collagenopathy' 'achondrogenesis type II' SubClassOf 'achondrogenesis' 'achondrogenesis type II' SubClassOf 'type 2 collagenopathy' http://purl.obolibrary.org/obo/MONDO_0008701 achondrogenesis type IA 'achondrogenesis type IA' SubClassOf 'severe spondylodysplastic dysplasia' 'achondrogenesis type IA' SubClassOf 'achondrogenesis' 'achondrogenesis type IA' SubClassOf 'severe spondylodysplastic dysplasia' 'achondrogenesis type IA' SubClassOf 'achondrogenesis' http://purl.obolibrary.org/obo/MONDO_0008700 acheiropody 'acheiropody' SubClassOf 'non-syndromic limb reduction defect' 'acheiropody' SubClassOf 'osteochondrodysplasia' 'acheiropody' SubClassOf 'non-syndromic limb reduction defect' 'acheiropody' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0008709 acrocephalopolydactyly 'acrocephalopolydactyly' SubClassOf 'syndromic craniosynostosis' 'acrocephalopolydactyly' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome 'acrocallosal syndrome' SubClassOf 'KIF7-related ciliopathy' 'acrocallosal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'acrocallosal syndrome' SubClassOf 'syndromic disease' 'acrocallosal syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'acrocallosal syndrome' SubClassOf 'KIF7-related ciliopathy' 'acrocallosal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'acrocallosal syndrome' SubClassOf 'syndromic disease' 'acrocallosal syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' http://purl.obolibrary.org/obo/MONDO_0008717 acromesomelic dysplasia 2C, Hunter-Thompson type 'acromesomelic dysplasia 2C, Hunter-Thompson type' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 2C, Hunter-Thompson type' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008716 acrogeria 'acrogeria' SubClassOf 'premature aging syndrome' 'acrogeria' SubClassOf 'premature aging syndrome' http://purl.obolibrary.org/obo/MONDO_0008715 acrofrontofacionasal dysostosis 'acrofrontofacionasal dysostosis' SubClassOf 'acrofacial dysostosis' 'acrofrontofacionasal dysostosis' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0008714 acrofacial dysostosis Rodriguez type 'acrofacial dysostosis Rodriguez type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'acrofacial dysostosis Rodriguez type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis Rodriguez type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'acrofacial dysostosis Rodriguez type' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0008713 acrodermatitis enteropathica 'acrodermatitis enteropathica' SubClassOf 'inborn metal metabolism disorder' 'acrodermatitis enteropathica' SubClassOf 'disorder of zinc metabolism' 'acrodermatitis enteropathica' SubClassOf 'inborn metal metabolism disorder' 'acrodermatitis enteropathica' SubClassOf 'disorder of zinc metabolism' http://purl.obolibrary.org/obo/MONDO_0008712 acrocraniofacial dysostosis 'acrocraniofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'acrocraniofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acrocraniofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'acrocraniofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008711 Goodman syndrome 'Goodman syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Goodman syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Goodman syndrome' SubClassOf 'disease shares features of' some 'Carpenter syndrome' 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Carpenter syndrome' 'Goodman syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Goodman syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008710 RAB23-related Carpenter syndrome 'RAB23-related Carpenter syndrome' SubClassOf 'Carpenter syndrome' 'RAB23-related Carpenter syndrome' SubClassOf 'Carpenter syndrome' http://purl.obolibrary.org/obo/MONDO_0008719 acrorenal syndrome, autosomal recessive 'acrorenal syndrome, autosomal recessive' SubClassOf 'acrorenal syndrome' 'acrorenal syndrome, autosomal recessive' SubClassOf 'acrorenal syndrome' http://purl.obolibrary.org/obo/MONDO_0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'reproductive system disease' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'reproductive system disease' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'reproductive system disease' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'reproductive system disease' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'reproductive system disease' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'reproductive system disease' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008725 congenital lipoid adrenal hyperplasia due to STAR deficency 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'inherited primary ovarian failure' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital adrenal hyperplasia' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'inherited primary ovarian failure' 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008724 adducted thumbs-arthrogryposis syndrome, Christian type 'adducted thumbs-arthrogryposis syndrome, Christian type' SubClassOf 'arthrogryposis multiplex congenita' 'adducted thumbs-arthrogryposis syndrome, Christian type' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0008722 short chain acyl-CoA dehydrogenase deficiency 'short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' 'short chain acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0008721 medium chain acyl-CoA dehydrogenase deficiency 'medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' 'medium chain acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0008738 aganglionosis, total intestinal 'aganglionosis, total intestinal' SubClassOf 'genetic disorder' 'aganglionosis, total intestinal' SubClassOf 'disease shares features of' some 'Hirschsprung disease' 'aganglionosis, total intestinal' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Hirschsprung disease' 'aganglionosis, total intestinal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008734 adrenocortical carcinoma, hereditary 'adrenocortical carcinoma, hereditary' SubClassOf 'adrenal cortex carcinoma' 'adrenocortical carcinoma, hereditary' SubClassOf 'adrenal cortex carcinoma' http://purl.obolibrary.org/obo/MONDO_0008733 familial glucocorticoid deficiency 'familial glucocorticoid deficiency' SubClassOf 'chronic primary adrenal insufficiency' 'familial glucocorticoid deficiency' SubClassOf 'chronic primary adrenal insufficiency' http://purl.obolibrary.org/obo/MONDO_0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'chronic primary adrenal insufficiency' 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'congenital hypogonadotropic hypogonadism' 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'chronic primary adrenal insufficiency' 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'reproductive system disease' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'reproductive system disease' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008749 pseudohypoparathyroidism type 2 'pseudohypoparathyroidism type 2' SubClassOf 'pseudohypoparathyroidism' 'pseudohypoparathyroidism type 2' SubClassOf 'pseudohypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0008747 oculocutaneous albinism type 3 'oculocutaneous albinism type 3' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 3' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 'oculocutaneous albinism type 2' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 2' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0008745 oculocutaneous albinism type 1A 'oculocutaneous albinism type 1A' SubClassOf 'oculocutaneous albinism type 1' 'oculocutaneous albinism type 1A' SubClassOf 'oculocutaneous albinism type 1' http://purl.obolibrary.org/obo/MONDO_0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome 'alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008743 Stimmler syndrome 'Stimmler syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Stimmler syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008742 autosomal dominant severe congenital neutropenia 'autosomal dominant severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' 'autosomal dominant severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0008741 PAGOD syndrome 'PAGOD syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PAGOD syndrome' SubClassOf 'syndromic disease' 'PAGOD syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PAGOD syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008740 agnathia-otocephaly complex 'agnathia-otocephaly complex' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'agnathia-otocephaly complex' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008759 oxoglutaricaciduria 'oxoglutaricaciduria' SubClassOf 'tricarboxylic acid cycle disorder' 'oxoglutaricaciduria' SubClassOf 'tricarboxylic acid cycle disorder' http://purl.obolibrary.org/obo/MONDO_0008758 mitochondrial DNA depletion syndrome 4a 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'inherited neurodegenerative disorder' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'syndromic disease' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'inherited neurodegenerative disorder' 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008757 alopecia universalis congenita 'alopecia universalis congenita' SubClassOf 'alopecia, isolated' 'alopecia universalis congenita' SubClassOf 'alopecia, isolated' http://purl.obolibrary.org/obo/MONDO_0008756 alopecia - intellectual disability syndrome 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic disease' 'alopecia - intellectual disability syndrome' SubClassOf 'genetic disorder' 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic disease' 'alopecia - intellectual disability syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008755 Moynahan syndrome 'Moynahan syndrome' SubClassOf 'epilepsy syndrome' 'Moynahan syndrome' SubClassOf 'hyperpigmentation of the skin' 'Moynahan syndrome' SubClassOf 'epilepsy syndrome' 'Moynahan syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0008754 alopecia - contractures - dwarfism - intellectual disability syndrome 'alopecia - contractures - dwarfism - intellectual disability syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'alopecia - contractures - dwarfism - intellectual disability syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008753 alkaptonuria 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0008752 Alexander disease 'Alexander disease' SubClassOf 'leukodystrophy' 'Alexander disease' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0008750 microcephaly-albinism-digital anomalies syndrome 'microcephaly-albinism-digital anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'microcephaly-albinism-digital anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008769 neuronal ceroid lipofuscinosis 2 'neuronal ceroid lipofuscinosis 2' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 2' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 2' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 2' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0008768 ceroid lipofuscinosis, neuronal, 6B (Kufs type) 'ceroid lipofuscinosis, neuronal, 6B (Kufs type)' SubClassOf 'adult neuronal ceroid lipofuscinosis' 'ceroid lipofuscinosis, neuronal, 6B (Kufs type)' SubClassOf 'adult neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0008767 neuronal ceroid lipofuscinosis 3 'neuronal ceroid lipofuscinosis 3' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 3' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0008766 amaurosis-hypertrichosis syndrome 'amaurosis-hypertrichosis syndrome' SubClassOf 'inherited retinal dystrophy' 'amaurosis-hypertrichosis syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0008765 Leber congenital amaurosis 2 'Leber congenital amaurosis 2' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 2' SubClassOf 'RPE65-related recessive retinopathy' 'Leber congenital amaurosis 2' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 2' SubClassOf 'RPE65-related recessive retinopathy' http://purl.obolibrary.org/obo/MONDO_0008764 Leber congenital amaurosis 1 'Leber congenital amaurosis 1' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 1' SubClassOf 'GUCY2D-related recessive retinopathy' 'Leber congenital amaurosis 1' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 1' SubClassOf 'GUCY2D-related recessive retinopathy' http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome 'Alstrom syndrome' SubClassOf 'ciliopathy' 'Alstrom syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'Alstrom syndrome' SubClassOf 'syndromic disease' 'Alstrom syndrome' SubClassOf 'autosomal recessive disease' 'Alstrom syndrome' SubClassOf 'ciliopathy' 'Alstrom syndrome' SubClassOf 'syndromic disease' 'Alstrom syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' 'Alstrom syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008762 autosomal recessive Alport syndrome 'autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' 'autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' 'autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008760 beta-ketothiolase deficiency 'beta-ketothiolase deficiency' SubClassOf 'autosomal recessive disease' 'beta-ketothiolase deficiency' SubClassOf 'inborn disorder of ketolysis' 'beta-ketothiolase deficiency' SubClassOf 'classic organic aciduria' 'beta-ketothiolase deficiency' SubClassOf 'autosomal recessive disease' 'beta-ketothiolase deficiency' SubClassOf 'inborn disorder of ketolysis' 'beta-ketothiolase deficiency' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0008777 gelatinous drop-like corneal dystrophy 'gelatinous drop-like corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'gelatinous drop-like corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'gelatinous drop-like corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'gelatinous drop-like corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0008774 2-aminoadipic 2-oxoadipic aciduria '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' '2-aminoadipic 2-oxoadipic aciduria' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G 'amelogenesis imperfecta type 1G' SubClassOf 'disorder of development or morphogenesis' 'amelogenesis imperfecta type 1G' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta type 1G' SubClassOf 'disorder of development or morphogenesis' 'amelogenesis imperfecta type 1G' SubClassOf 'amelogenesis imperfecta' http://www.ebi.ac.uk/efo/EFO_0002890 renal carcinoma 'renal carcinoma' SubClassOf 'kidney cancer' 'renal carcinoma' SubClassOf 'carcinoma' 'renal carcinoma' SubClassOf 'kidney cancer' 'renal carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0002893 choriocarcinoma 'choriocarcinoma' SubClassOf 'trophoblastic neoplasm' 'choriocarcinoma' SubClassOf 'germ cell tumor' 'choriocarcinoma' SubClassOf 'trophoblastic neoplasm' 'choriocarcinoma' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0008787 microcytic anemia with liver iron overload 'microcytic anemia with liver iron overload' SubClassOf 'disorder of iron metabolism and transport' 'microcytic anemia with liver iron overload' SubClassOf 'anemia, hypochromic microcytic with iron overload' 'microcytic anemia with liver iron overload' SubClassOf 'disorder of iron metabolism and transport' 'microcytic anemia with liver iron overload' SubClassOf 'anemia, hypochromic microcytic with iron overload' http://www.ebi.ac.uk/efo/EFO_0002892 thyroid carcinoma 'thyroid carcinoma' SubClassOf 'carcinoma' 'thyroid carcinoma' SubClassOf 'thyroid cancer' 'thyroid carcinoma' SubClassOf 'carcinoma' 'thyroid carcinoma' SubClassOf 'thyroid cancer' http://www.ebi.ac.uk/efo/EFO_0002894 amelanotic skin melanoma 'amelanotic skin melanoma' SubClassOf 'amelanotic melanoma' 'amelanotic skin melanoma' SubClassOf 'cutaneous melanoma' 'amelanotic skin melanoma' SubClassOf 'amelanotic melanoma' 'amelanotic skin melanoma' SubClassOf 'cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0008783 Tangier disease 'Tangier disease' SubClassOf 'hypoalphalipoproteinemia' 'Tangier disease' SubClassOf 'hypolipoproteinemia' 'Tangier disease' SubClassOf 'hypoalphalipoproteinemia' 'Tangier disease' SubClassOf 'hypolipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0008780 amyotrophic lateral sclerosis type 2, juvenile 'amyotrophic lateral sclerosis type 2, juvenile' SubClassOf 'juvenile amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis type 2, juvenile' SubClassOf 'juvenile amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria 'hereditary xanthinuria' SubClassOf 'inborn disorder of purine metabolism' 'hereditary xanthinuria' SubClassOf 'xanthinuria' 'hereditary xanthinuria' SubClassOf 'inborn disorder of purine metabolism' 'hereditary xanthinuria' SubClassOf 'xanthinuria' http://purl.obolibrary.org/obo/MONDO_0018105 Wolfram syndrome 'Wolfram syndrome' SubClassOf 'syndromic disease' 'Wolfram syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018102 corneal dystrophy 'corneal dystrophy' SubClassOf 'corneal disease' 'corneal dystrophy' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0018101 familial primary hypomagnesemia with normocalciuria and normocalcemia 'familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'familial primary hypomagnesemia with normocalcuria' 'familial primary hypomagnesemia with normocalciuria and normocalcemia' SubClassOf 'familial primary hypomagnesemia with normocalcuria' http://purl.obolibrary.org/obo/MONDO_0018100 familial primary hypomagnesemia 'familial primary hypomagnesemia' SubClassOf 'inherited renal tubular disease' 'familial primary hypomagnesemia' SubClassOf 'inborn metal metabolism disorder' 'familial primary hypomagnesemia' SubClassOf 'disorder of magnesium transport' 'familial primary hypomagnesemia' SubClassOf 'inherited renal tubular disease' 'familial primary hypomagnesemia' SubClassOf 'disorder of magnesium transport' 'familial primary hypomagnesemia' SubClassOf 'inborn metal metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0008799 anophthalmia/microphthalmia-esophageal atresia syndrome 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'syndromic microphthalmia' 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0008798 nonsyndromic congenital nail disorder 4 'nonsyndromic congenital nail disorder 4' SubClassOf 'isolated congenital anonychia' 'nonsyndromic congenital nail disorder 4' SubClassOf 'isolated congenital anonychia' http://purl.obolibrary.org/obo/MONDO_0008797 anodontia 'anodontia' SubClassOf 'genetic disorder' 'anodontia' SubClassOf 'tooth disease' 'anodontia' SubClassOf 'genetic disorder' 'anodontia' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0008796 aniridia-renal agenesis-psychomotor retardation syndrome 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic disease' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'disorder of visual system' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'genetic disorder' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic disease' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'disorder of visual system' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008795 aniridia-cerebellar ataxia-intellectual disability syndrome 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic disease' 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'iridogoniodysgenesis' 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic disease' 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'iridogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0008792 familial angiolipomatosis 'familial angiolipomatosis' SubClassOf 'subcutaneous tissue disorder' 'familial angiolipomatosis' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0008791 anencephaly 1 'anencephaly 1' SubClassOf 'anencephaly' 'anencephaly 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'anencephaly 1' SubClassOf 'anencephaly' 'anencephaly 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018117 disorder of phospholipids, sphingolipids and fatty acids biosynthesis 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'inherited lipid metabolism disorder' 'disorder of phospholipids, sphingolipids and fatty acids biosynthesis' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia 'galactosemia' SubClassOf 'disorder of galactose metabolism' 'galactosemia' SubClassOf 'disorder of galactose metabolism' http://purl.obolibrary.org/obo/MONDO_0018115 epidermal nevus syndrome 'epidermal nevus syndrome' SubClassOf 'syndromic disease' 'epidermal nevus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018128 phalangeal microgeodic syndrome 'phalangeal microgeodic syndrome' SubClassOf 'primary osteolysis' 'phalangeal microgeodic syndrome' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0018127 16q24.1 microdeletion syndrome '16q24.1 microdeletion syndrome' SubClassOf 'respiratory system disease' '16q24.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 16' '16q24.1 microdeletion syndrome' SubClassOf 'respiratory system disease' '16q24.1 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0018129 autosomal recessive cerebellar ataxia with late-onset spasticity 'autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'sphingolipidosis' 'autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'autosomal recessive cerebellar ataxia with late-onset spasticity' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 'intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf 'syndromic disease' 'intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018126 progressive myoclonic epilepsy with dystonia 'progressive myoclonic epilepsy with dystonia' SubClassOf 'infantile epilepsy syndrome' 'progressive myoclonic epilepsy with dystonia' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0018125 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 'focal epilepsy-intellectual disability-cerebro-cerebellar malformation' SubClassOf 'monogenic epilepsy' 'focal epilepsy-intellectual disability-cerebro-cerebellar malformation' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0018122 digital anomalies-intellectual disability-short stature syndrome 'digital anomalies-intellectual disability-short stature syndrome' SubClassOf 'syndromic disease' 'digital anomalies-intellectual disability-short stature syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018121 mitochondrial DNA maintenance syndrome 'mitochondrial DNA maintenance syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'mitochondrial DNA maintenance syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0018135 oculocutaneous albinism type 1 'oculocutaneous albinism type 1' SubClassOf 'disorder of tyrosine metabolism' 'oculocutaneous albinism type 1' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 1' SubClassOf 'disorder of tyrosine metabolism' 'oculocutaneous albinism type 1' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0018134 disorder of melanin metabolism 'disorder of melanin metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'disorder of melanin metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0018137 temperature-sensitive oculocutaneous albinism type 1 'temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'oculocutaneous albinism type 1' 'temperature-sensitive oculocutaneous albinism type 1' SubClassOf 'oculocutaneous albinism type 1' http://purl.obolibrary.org/obo/MONDO_0018136 minimal pigment oculocutaneous albinism type 1 'minimal pigment oculocutaneous albinism type 1' SubClassOf 'oculocutaneous albinism type 1' 'minimal pigment oculocutaneous albinism type 1' SubClassOf 'oculocutaneous albinism type 1' http://purl.obolibrary.org/obo/MONDO_0018131 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion' SubClassOf 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion' SubClassOf 'partial monosomy of the long arm of chromosome 9' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion' SubClassOf 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion' SubClassOf 'partial monosomy of the long arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0018130 brain dopamine-serotonin vesicular transport disease 'brain dopamine-serotonin vesicular transport disease' SubClassOf 'parkinsonism-dystonia, infantile' 'brain dopamine-serotonin vesicular transport disease' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' 'brain dopamine-serotonin vesicular transport disease' SubClassOf 'parkinsonism-dystonia, infantile' 'brain dopamine-serotonin vesicular transport disease' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0018133 attenuated Chédiak-Higashi syndrome 'attenuated Chédiak-Higashi syndrome' SubClassOf 'inherited neurodegenerative disorder' 'attenuated Chédiak-Higashi syndrome' SubClassOf 'hereditary peripheral neuropathy' 'attenuated Chédiak-Higashi syndrome' SubClassOf 'inherited neurodegenerative disorder' 'attenuated Chédiak-Higashi syndrome' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018150 Gaucher disease 'Gaucher disease' SubClassOf 'sphingolipidosis' 'Gaucher disease' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0018149 GM1 gangliosidosis 'GM1 gangliosidosis' SubClassOf 'gangliosidosis' 'GM1 gangliosidosis' SubClassOf 'gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0018142 pyruvate carboxylase deficiency, severe neonatal type 'pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'pyruvate carboxylase deficiency disease' 'pyruvate carboxylase deficiency, severe neonatal type' SubClassOf 'pyruvate carboxylase deficiency disease' http://purl.obolibrary.org/obo/MONDO_0018141 pyruvate carboxylase deficiency, infantile form 'pyruvate carboxylase deficiency, infantile form' SubClassOf 'pyruvate carboxylase deficiency disease' 'pyruvate carboxylase deficiency, infantile form' SubClassOf 'pyruvate carboxylase deficiency disease' http://purl.obolibrary.org/obo/MONDO_0018143 pyruvate carboxylase deficiency, benign type 'pyruvate carboxylase deficiency, benign type' SubClassOf 'pyruvate carboxylase deficiency disease' 'pyruvate carboxylase deficiency, benign type' SubClassOf 'pyruvate carboxylase deficiency disease' http://purl.obolibrary.org/obo/MONDO_0018160 hereditary retinoblastoma 'hereditary retinoblastoma' SubClassOf 'retinoblastoma' 'hereditary retinoblastoma' SubClassOf 'hereditary neoplastic syndrome' 'hereditary retinoblastoma' SubClassOf 'retinoblastoma' 'hereditary retinoblastoma' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0018156 3q26q27 microdeletion syndrome '3q26q27 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' '3q26q27 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0018159 atypical hemolytic-uremic syndrome with DGKE deficiency 'atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'atypical hemolytic-uremic syndrome' 'atypical hemolytic-uremic syndrome with DGKE deficiency' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0018158 mitochondrial DNA depletion syndrome 'mitochondrial DNA depletion syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'mitochondrial DNA depletion syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0018171 malignant germ cell tumor of ovary 'malignant germ cell tumor of ovary' SubClassOf 'malignant non-epithelial tumor of ovary' 'malignant germ cell tumor of ovary' SubClassOf 'Malignant Germ Cell Tumor' 'malignant germ cell tumor of ovary' SubClassOf 'Ovarian Germ Cell Tumor' 'malignant germ cell tumor of ovary' SubClassOf 'gonadal germ cell tumor' 'malignant germ cell tumor of ovary' SubClassOf 'malignant non-epithelial tumor of ovary' 'malignant germ cell tumor of ovary' SubClassOf 'Malignant Germ Cell Tumor' 'malignant germ cell tumor of ovary' SubClassOf 'Ovarian Germ Cell Tumor' 'malignant germ cell tumor of ovary' SubClassOf 'gonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome 'idiopathic nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'idiopathic nephrotic syndrome' SubClassOf 'nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0018172 malignant sex cord stromal tumor of ovary 'malignant sex cord stromal tumor of ovary' SubClassOf 'malignant non-epithelial tumor of ovary' 'malignant sex cord stromal tumor of ovary' SubClassOf 'ovarian sex cord-stromal tumor' 'malignant sex cord stromal tumor of ovary' SubClassOf 'malignant non-epithelial tumor of ovary' 'malignant sex cord stromal tumor of ovary' SubClassOf 'ovarian sex cord-stromal tumor' http://purl.obolibrary.org/obo/MONDO_0043137 isolated microcephaly 'isolated microcephaly' SubClassOf 'microcephaly' 'isolated microcephaly' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0018168 primary non-essential cutis verticis gyrata 'primary non-essential cutis verticis gyrata' SubClassOf 'primary cutis verticis gyrata' 'primary non-essential cutis verticis gyrata' SubClassOf 'primary cutis verticis gyrata' http://purl.obolibrary.org/obo/MONDO_0018169 morning glory syndrome 'morning glory syndrome' SubClassOf 'hereditary optic neuropathy' 'morning glory syndrome' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0018163 autosomal recessive cutis laxa type 2A 'autosomal recessive cutis laxa type 2A' SubClassOf 'autosomal recessive cutis laxa type 2' 'autosomal recessive cutis laxa type 2A' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'autosomal recessive cutis laxa type 2A' SubClassOf 'autosomal recessive cutis laxa type 2' 'autosomal recessive cutis laxa type 2A' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0018178 intestinal lymphangiectasia 'intestinal lymphangiectasia' SubClassOf 'intestinal disease' 'intestinal lymphangiectasia' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0018175 combined deficiency of factor V and factor VIII 'combined deficiency of factor V and factor VIII' SubClassOf 'coagulation protein disease' 'combined deficiency of factor V and factor VIII' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0018174 hereditary glaucoma 'hereditary glaucoma' SubClassOf 'glaucoma' 'hereditary glaucoma' SubClassOf 'glaucoma' http://purl.obolibrary.org/obo/MONDO_0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy 'autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'proximal spinal muscular atrophy' 'autosomal dominant childhood-onset proximal spinal muscular atrophy' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0018189 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' SubClassOf 'inborn disorder of amino acid transport' 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form 'mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'inherited renal tubular disease' 'mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'inherited renal tubular disease' 'mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' http://purl.obolibrary.org/obo/MONDO_0043195 Rubinstein Taybi like syndrome 'Rubinstein Taybi like syndrome' SubClassOf 'disease shares features of' some 'Rubinstein-Taybi syndrome' 'Rubinstein Taybi like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Rubinstein-Taybi syndrome' http://purl.obolibrary.org/obo/MONDO_0008607 triphalangeal thumbs-brachyectrodactyly syndrome 'triphalangeal thumbs-brachyectrodactyly syndrome' SubClassOf 'congenital limb malformation' 'triphalangeal thumbs-brachyectrodactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008606 Say-field-Coldwell syndrome 'Say-field-Coldwell syndrome' SubClassOf 'congenital limb malformation' 'Say-field-Coldwell syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0008603 trigonocephaly 1 'trigonocephaly 1' SubClassOf 'isolated trigonocephaly' 'trigonocephaly 1' SubClassOf 'isolated trigonocephaly' http://purl.obolibrary.org/obo/MONDO_0008619 ulna metaphyseal dysplasia syndrome 'ulna metaphyseal dysplasia syndrome' SubClassOf 'skeletal dysplasia' 'ulna metaphyseal dysplasia syndrome' SubClassOf 'osteochondrodysplasia' 'ulna metaphyseal dysplasia syndrome' SubClassOf 'skeletal dysplasia' 'ulna metaphyseal dysplasia syndrome' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0008618 mesomelic dwarfism, Reinhardt-Pfeiffer type 'mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'mesomelic dysplasia' 'mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'skeletal dysplasia' 'mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'mesomelic dysplasia' 'mesomelic dwarfism, Reinhardt-Pfeiffer type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008611 humerus trochlea aplasia 'humerus trochlea aplasia' SubClassOf 'genetic disorder' 'humerus trochlea aplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008610 blue color blindness 'blue color blindness' SubClassOf 'color vision disorder' 'blue color blindness' SubClassOf 'color vision disorder' http://purl.obolibrary.org/obo/MONDO_0008627 ureter cancer 'ureter cancer' SubClassOf 'ureteral neoplasm' 'ureter cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'ureter cancer' SubClassOf 'ureteral neoplasm' 'ureter cancer' SubClassOf 'Malignant Urinary System Neoplasm' http://purl.obolibrary.org/obo/MONDO_0008624 Upington disease 'Upington disease' SubClassOf 'genetic disorder' 'Upington disease' SubClassOf 'musculoskeletal system disease' 'Upington disease' SubClassOf 'genetic disorder' 'Upington disease' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0008622 tricho-retino-dento-digital syndrome 'tricho-retino-dento-digital syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'tricho-retino-dento-digital syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008621 uncombable hair syndrome 'uncombable hair syndrome' SubClassOf 'hair anomaly' 'uncombable hair syndrome' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0008620 upper limb mesomelic dysplasia 'upper limb mesomelic dysplasia' SubClassOf 'mesomelic dysplasia' 'upper limb mesomelic dysplasia' SubClassOf 'skeletal dysplasia' 'upper limb mesomelic dysplasia' SubClassOf 'mesomelic dysplasia' 'upper limb mesomelic dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008638 varicose disease 'varicose disease' SubClassOf 'vein disorder' 'varicose disease' SubClassOf 'vein disorder' http://purl.obolibrary.org/obo/MONDO_0008637 bifid uvula 'bifid uvula' SubClassOf 'cleft palate' 'bifid uvula' SubClassOf 'cleft palate' http://purl.obolibrary.org/obo/MONDO_0008636 double uterus-hemivagina-renal agenesis syndrome 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'syndromic disease' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'reproductive system disease' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'disorder of development or morphogenesis' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'syndromic disease' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'reproductive system disease' 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008633 Muckle-Wells syndrome 'Muckle-Wells syndrome' SubClassOf 'autosomal dominant disease' 'Muckle-Wells syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' 'Muckle-Wells syndrome' SubClassOf 'autosomal dominant disease' 'Muckle-Wells syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' http://purl.obolibrary.org/obo/MONDO_0008630 urinary bladder, atony of 'urinary bladder, atony of' SubClassOf 'genetic disorder' 'urinary bladder, atony of' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008648 ventricular tachycardia, familial 'ventricular tachycardia, familial' SubClassOf 'ventricular tachycardia' 'ventricular tachycardia, familial' SubClassOf 'ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0008647 hypertrophic cardiomyopathy 1 'hypertrophic cardiomyopathy 1' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 1' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome 'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008642 VACTERL/vater association 'VACTERL/vater association' SubClassOf 'syndromic disease' 'VACTERL/vater association' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'TREX1-related type 1 interferonopathy' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'inherited retinal dystrophy' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'type 1 interferonopathy of childhood' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'TREX1-related type 1 interferonopathy' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'inherited retinal dystrophy' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'type 1 interferonopathy of childhood' http://purl.obolibrary.org/obo/MONDO_0008659 transcobalamin I deficiency 'transcobalamin I deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'transcobalamin I deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0008654 spinocerebellar ataxia 27A 'spinocerebellar ataxia 27A' SubClassOf 'autosomal dominant cerebellar ataxia' 'spinocerebellar ataxia 27A' SubClassOf 'congenital nystagmus' 'spinocerebellar ataxia 27A' SubClassOf 'autosomal dominant cerebellar ataxia' 'spinocerebellar ataxia 27A' SubClassOf 'congenital nystagmus' http://purl.obolibrary.org/obo/MONDO_0008652 congenital vertical talus 'congenital vertical talus' SubClassOf 'congenital deformities of limbs' 'congenital vertical talus' SubClassOf 'congenital deformities of limbs' http://purl.obolibrary.org/obo/MONDO_0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'syndromic disease' 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008668 von Willebrand disease 1 'von Willebrand disease 1' SubClassOf 'hereditary von Willebrand disease' 'von Willebrand disease 1' SubClassOf 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease 'von Hippel-Lindau disease' SubClassOf 'neurocutaneous syndrome' 'von Hippel-Lindau disease' SubClassOf 'neurocutaneous syndrome' http://purl.obolibrary.org/obo/MONDO_0008666 volvulus of midgut 'volvulus of midgut' SubClassOf 'genetic disorder' 'volvulus of midgut' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008665 ptosis-vocal cord paralysis syndrome 'ptosis-vocal cord paralysis syndrome' SubClassOf 'syndromic disease' 'ptosis-vocal cord paralysis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008663 snowflake vitreoretinal degeneration 'snowflake vitreoretinal degeneration' SubClassOf 'vitreoretinal degeneration' 'snowflake vitreoretinal degeneration' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0008662 autosomal dominant vitreoretinochoroidopathy 'autosomal dominant vitreoretinochoroidopathy' SubClassOf 'BEST1-related vitreoretinochoroidopathy' 'autosomal dominant vitreoretinochoroidopathy' SubClassOf 'BEST1-related vitreoretinochoroidopathy' http://purl.obolibrary.org/obo/MONDO_0008660 autosomal dominant hypophosphatemic rickets 'autosomal dominant hypophosphatemic rickets' SubClassOf 'autosomal dominant disease' 'autosomal dominant hypophosphatemic rickets' SubClassOf 'abnormal mineralization disorder' 'autosomal dominant hypophosphatemic rickets' SubClassOf 'hereditary hypophosphatemic rickets' 'autosomal dominant hypophosphatemic rickets' SubClassOf 'autosomal dominant disease' 'autosomal dominant hypophosphatemic rickets' SubClassOf 'abnormal mineralization disorder' 'autosomal dominant hypophosphatemic rickets' SubClassOf 'hereditary hypophosphatemic rickets' http://purl.obolibrary.org/obo/MONDO_0033622 spermatogenic failure 44 'spermatogenic failure 44' SubClassOf 'azoospermia' 'spermatogenic failure 44' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0033621 spinal muscular atrophy, infantile, James type 'spinal muscular atrophy, infantile, James type' SubClassOf 'genetic disorder' 'spinal muscular atrophy, infantile, James type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033620 myofibrillar myopathy 10 'myofibrillar myopathy 10' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 10' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0033619 myopathy, epilepsy, and progressive cerebral atrophy 'myopathy, epilepsy, and progressive cerebral atrophy' SubClassOf 'ALG14-congenital disorder of glycosylation' 'myopathy, epilepsy, and progressive cerebral atrophy' SubClassOf 'ALG14-congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0033618 Vissers-Bodmer syndrome 'Vissers-Bodmer syndrome' SubClassOf 'genetic disorder' 'Vissers-Bodmer syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033615 coenzyme q10 deficiency, primary, 9 'coenzyme q10 deficiency, primary, 9' SubClassOf 'coenzyme Q10 deficiency' 'coenzyme q10 deficiency, primary, 9' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0033614 spastic paraplegia 83, autosomal recessive 'spastic paraplegia 83, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 83, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008679 Wilms tumor 1 'Wilms tumor 1' SubClassOf 'hereditary Wilms tumor' 'Wilms tumor 1' SubClassOf 'hereditary Wilms tumor' http://purl.obolibrary.org/obo/MONDO_0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 'neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities' SubClassOf 'spastic quadriplegic cerebral palsy' 'neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities' SubClassOf 'spastic quadriplegic cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0008678 Williams syndrome 'Williams syndrome' SubClassOf 'Neurodevelopmental disorder' 'Williams syndrome' SubClassOf 'syndromic disease' 'Williams syndrome' SubClassOf 'partial deletion of the long arm of chromosome 7' 'Williams syndrome' SubClassOf 'syndromic disease' 'Williams syndrome' SubClassOf 'Neurodevelopmental disorder' 'Williams syndrome' SubClassOf 'partial deletion of the long arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0008676 white sponge nevus 1 'white sponge nevus 1' SubClassOf 'hereditary mucosal leukokeratosis' 'white sponge nevus 1' SubClassOf 'hereditary mucosal leukokeratosis' http://purl.obolibrary.org/obo/MONDO_0008673 acrofacial dysostosis, Weyers type 'acrofacial dysostosis, Weyers type' SubClassOf 'ectodermal dysplasia syndrome' 'acrofacial dysostosis, Weyers type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Weyers type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acrofacial dysostosis, Weyers type' SubClassOf 'ectodermal dysplasia syndrome' 'acrofacial dysostosis, Weyers type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Weyers type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008671 Waardenburg syndrome type 2A 'Waardenburg syndrome type 2A' SubClassOf 'Waardenburg syndrome type 2' 'Waardenburg syndrome type 2A' SubClassOf 'Waardenburg syndrome type 2' http://purl.obolibrary.org/obo/MONDO_0008670 Waardenburg syndrome type 1 'Waardenburg syndrome type 1' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 1' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0033649 mitochondrial complex 4 deficiency, nuclear type 14 'mitochondrial complex 4 deficiency, nuclear type 14' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 14' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033646 mitochondrial complex 4 deficiency, nuclear type 12 'mitochondrial complex 4 deficiency, nuclear type 12' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 12' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'dehydrated hereditary stomatocytosis' 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'dehydrated hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0033645 mitochondrial complex 4 deficiency, nuclear type 11 'mitochondrial complex 4 deficiency, nuclear type 11' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 11' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0008688 WT limb-blood syndrome 'WT limb-blood syndrome' SubClassOf 'inherited aplastic anemia' 'WT limb-blood syndrome' SubClassOf 'inherited aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0008686 isolated familial wooly hair disorder 'isolated familial wooly hair disorder' SubClassOf 'hair anomaly' 'isolated familial wooly hair disorder' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0008684 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic disease' 'Wolf-Hirschhorn syndrome' SubClassOf 'chromosome 4 short arm deletion' 'Wolf-Hirschhorn syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wolf-Hirschhorn syndrome' SubClassOf 'syndromic disease' 'Wolf-Hirschhorn syndrome' SubClassOf 'chromosome 4 short arm deletion' 'Wolf-Hirschhorn syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008682 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'syndromic disease' 'Denys-Drash syndrome' SubClassOf 'autosomal dominant disease' 'Denys-Drash syndrome' SubClassOf 'syndromic disease' 'Denys-Drash syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome 'WAGR syndrome' SubClassOf 'hereditary neoplastic syndrome' 'WAGR syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' 'WAGR syndrome' SubClassOf 'hereditary neoplastic syndrome' 'WAGR syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0008691 zinc, elevated plasma 'zinc, elevated plasma' SubClassOf 'genetic disorder' 'zinc, elevated plasma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018007 mosaic genome-wide paternal uniparental disomy 'mosaic genome-wide paternal uniparental disomy' SubClassOf 'uniparental disomy' 'mosaic genome-wide paternal uniparental disomy' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0018006 adult-onset distal myopathy due to VCP mutation 'adult-onset distal myopathy due to VCP mutation' SubClassOf 'autosomal dominant distal myopathy' 'adult-onset distal myopathy due to VCP mutation' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'inborn mitochondrial myopathy' 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0033643 inflammatory bowel disease 30 'inflammatory bowel disease 30' SubClassOf 'inflammatory bowel disease' 'inflammatory bowel disease 30' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0018005 spastic paraplegia-Paget disease of bone syndrome 'spastic paraplegia-Paget disease of bone syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' 'spastic paraplegia-Paget disease of bone syndrome' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0033642 neurodevelopmental disorder with alopecia and brain abnormalities 'neurodevelopmental disorder with alopecia and brain abnormalities' SubClassOf 'disorder of polyamine metabolism' 'neurodevelopmental disorder with alopecia and brain abnormalities' SubClassOf 'disorder of polyamine metabolism' http://purl.obolibrary.org/obo/MONDO_0018004 acute megakaryoblastic leukemia without down syndrome 'acute megakaryoblastic leukemia without down syndrome' SubClassOf 'acute megakaryoblastic leukaemia' 'acute megakaryoblastic leukemia without down syndrome' SubClassOf 'acute megakaryoblastic leukaemia' http://purl.obolibrary.org/obo/MONDO_0033641 cleft palate, proliferative retinopathy, and developmental delay 'cleft palate, proliferative retinopathy, and developmental delay' SubClassOf 'genetic disorder' 'cleft palate, proliferative retinopathy, and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018000 hereditary thrombocytosis with transverse limb defect 'hereditary thrombocytosis with transverse limb defect' SubClassOf 'inherited blood coagulation disorder' 'hereditary thrombocytosis with transverse limb defect' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0033639 mitochondrial complex 4 deficiency, nuclear type 10 'mitochondrial complex 4 deficiency, nuclear type 10' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 10' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033638 mitochondrial complex 4 deficiency, nuclear type 8 'mitochondrial complex 4 deficiency, nuclear type 8' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 8' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033637 mitochondrial complex 4 deficiency, nuclear type 7 'mitochondrial complex 4 deficiency, nuclear type 7' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 7' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033636 mitochondrial complex 4 deficiency, nuclear type 4 'mitochondrial complex 4 deficiency, nuclear type 4' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 4' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033635 mitochondrial complex 4 deficiency, nuclear type 3 'mitochondrial complex 4 deficiency, nuclear type 3' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 3' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0008699 achalasia microcephaly syndrome 'achalasia microcephaly syndrome' SubClassOf 'autosomal recessive disease' 'achalasia microcephaly syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008696 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome 'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf 'acanthosis nigricans' 'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf 'epidermal disease' 'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf 'acanthosis nigricans' 'acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis 'chorea-acanthocytosis' SubClassOf 'neuroacanthocytosis' 'chorea-acanthocytosis' SubClassOf 'hereditary peripheral neuropathy' 'chorea-acanthocytosis' SubClassOf 'epidermal disease' 'chorea-acanthocytosis' SubClassOf 'neuroacanthocytosis' 'chorea-acanthocytosis' SubClassOf 'epidermal disease' 'chorea-acanthocytosis' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0008694 pseudoprogeria syndrome 'pseudoprogeria syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'pseudoprogeria syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008693 ablepharon macrostomia syndrome 'ablepharon macrostomia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'ablepharon macrostomia syndrome' SubClassOf 'syndromic disease' 'ablepharon macrostomia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'ablepharon macrostomia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008692 abetalipoproteinemia 'abetalipoproteinemia' SubClassOf 'hypobetalipoproteinemia' 'abetalipoproteinemia' SubClassOf 'intestinal disease' 'abetalipoproteinemia' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'abetalipoproteinemia' SubClassOf 'hereditary peripheral neuropathy' 'abetalipoproteinemia' SubClassOf 'hypobetalipoproteinemia' 'abetalipoproteinemia' SubClassOf 'intestinal disease' 'abetalipoproteinemia' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'abetalipoproteinemia' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018017 goblet cell carcinoma 'goblet cell carcinoma' SubClassOf 'combined carcinoid and adenocarcinoma' 'goblet cell carcinoma' SubClassOf 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' 'goblet cell carcinoma' SubClassOf 'combined carcinoid and adenocarcinoma' 'goblet cell carcinoma' SubClassOf 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' http://purl.obolibrary.org/obo/MONDO_0018014 transient neonatal multiple acyl-CoA dehydrogenase deficiency 'transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' 'transient neonatal multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0018013 non-immunoglobulin-mediated membranoproliferative glomerulonephritis 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'primary membranoproliferative glomerulonephritis' 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'primary membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0033631 combined oxidative phosphorylation deficiency 51 'combined oxidative phosphorylation deficiency 51' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 51' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0018015 intermittent hydrarthrosis 'intermittent hydrarthrosis' SubClassOf 'rheumatic disease' 'intermittent hydrarthrosis' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0018010 juvenile idiopathic inflammatory myopathy 'juvenile idiopathic inflammatory myopathy' SubClassOf 'acquired idiopathic inflammatory myopathy' 'juvenile idiopathic inflammatory myopathy' SubClassOf 'acquired idiopathic inflammatory myopathy' http://purl.obolibrary.org/obo/MONDO_0018030 tetrasomy 9p 'tetrasomy 9p' SubClassOf 'syndrome caused by partial chromosomal duplication of the short arm of chromosome 9' 'tetrasomy 9p' SubClassOf 'syndrome caused by partial chromosomal duplication of the short arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0033668 hearing loss, autosomal dominant 79 'hearing loss, autosomal dominant 79' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 79' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0033667 Delpire-McNeill syndrome 'Delpire-McNeill syndrome' SubClassOf 'genetic disorder' 'Delpire-McNeill syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018029 congenital factor XIII deficiency 'congenital factor XIII deficiency' SubClassOf 'hemorrhagic disease' 'congenital factor XIII deficiency' SubClassOf 'factor XIII deficiency' 'congenital factor XIII deficiency' SubClassOf 'hemorrhagic disease' 'congenital factor XIII deficiency' SubClassOf 'factor XIII deficiency' http://purl.obolibrary.org/obo/MONDO_0018028 tetrasomy 5p 'tetrasomy 5p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 5' 'tetrasomy 5p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0033665 hearing loss, autosomal dominant 78 'hearing loss, autosomal dominant 78' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 78' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0018027 duplication/inversion 15q11 'duplication/inversion 15q11' SubClassOf 'chromosomal disorder' 'duplication/inversion 15q11' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0033664 Kilquist syndrome 'Kilquist syndrome' SubClassOf 'genetic disorder' 'Kilquist syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018026 tetraploidy syndrome 'tetraploidy syndrome' SubClassOf 'polyploidy' 'tetraploidy syndrome' SubClassOf 'polyploidy' http://purl.obolibrary.org/obo/MONDO_0018021 hypotrichosis-deafness syndrome 'hypotrichosis-deafness syndrome' SubClassOf 'syndromic disease' 'hypotrichosis-deafness syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018023 hemoglobin M disease 'hemoglobin M disease' SubClassOf 'hereditary methemoglobinemia' 'hemoglobin M disease' SubClassOf 'hereditary methemoglobinemia' http://purl.obolibrary.org/obo/MONDO_0018022 hemoglobin Lepore-beta-thalassemia syndrome 'hemoglobin Lepore-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' 'hemoglobin Lepore-beta-thalassemia syndrome' SubClassOf 'beta-thalassemia and related diseases' http://purl.obolibrary.org/obo/MONDO_0033657 leukodystrophy, hypomyelinating, 20 'leukodystrophy, hypomyelinating, 20' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 20' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0033656 mitochondrial complex 4 deficiency, nuclear type 21 'mitochondrial complex 4 deficiency, nuclear type 21' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 21' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://www.ebi.ac.uk/efo/EFO_0002686 atopy 'atopy' SubClassOf 'allergic disease' 'atopy' SubClassOf 'allergic disease' http://www.ebi.ac.uk/efo/EFO_0002687 ischemia reperfusion injury 'ischemia reperfusion injury' SubClassOf 'injury' 'ischemia reperfusion injury' SubClassOf 'injury' http://www.ebi.ac.uk/efo/EFO_0002689 antiphospholipid syndrome 'antiphospholipid syndrome' SubClassOf 'syndromic disease' 'antiphospholipid syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'antiphospholipid syndrome' SubClassOf 'syndromic disease' 'antiphospholipid syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0018039 selective IgM deficiency 'selective IgM deficiency' SubClassOf 'dysgammaglobulinemia' 'selective IgM deficiency' SubClassOf 'dysgammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0033655 mitochondrial complex 4 deficiency, nuclear type 20 'mitochondrial complex 4 deficiency, nuclear type 20' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 20' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0851095 KINSSHIP syndrome 'KINSSHIP syndrome' SubClassOf 'autosomal dominant disease' 'KINSSHIP syndrome' SubClassOf 'syndromic disease' 'KINSSHIP syndrome' SubClassOf 'autosomal dominant disease' 'KINSSHIP syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0033654 mitochondrial complex 4 deficiency, nuclear type 19 'mitochondrial complex 4 deficiency, nuclear type 19' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 19' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033653 mitochondrial complex 4 deficiency, nuclear type 18 'mitochondrial complex 4 deficiency, nuclear type 18' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 18' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0018037 hyper-IgE syndrome 'hyper-IgE syndrome' SubClassOf 'hyperimmunoglobulin syndrome' 'hyper-IgE syndrome' SubClassOf 'hyperimmunoglobulin syndrome' http://purl.obolibrary.org/obo/MONDO_0033652 mitochondrial complex 4 deficiency, nuclear type 17 'mitochondrial complex 4 deficiency, nuclear type 17' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 17' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033651 mitochondrial complex 4 deficiency, nuclear type 16 'mitochondrial complex 4 deficiency, nuclear type 16' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 16' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0033650 mitochondrial complex 4 deficiency, nuclear type 15 'mitochondrial complex 4 deficiency, nuclear type 15' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' 'mitochondrial complex 4 deficiency, nuclear type 15' SubClassOf 'mitochondrial complex IV deficiency, nuclear-type' http://purl.obolibrary.org/obo/MONDO_0018050 tibial aplasia-ectrodactyly syndrome 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'congenital limb malformation' 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'genetic disorder' 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'congenital limb malformation' 'tibial aplasia-ectrodactyly syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018047 familial thrombomodulin anomalies 'familial thrombomodulin anomalies' SubClassOf 'inherited blood coagulation disorder' 'familial thrombomodulin anomalies' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0018046 thrombocytopenia-Robin sequence syndrome 'thrombocytopenia-Robin sequence syndrome' SubClassOf 'genetic disorder' 'thrombocytopenia-Robin sequence syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018043 Thomas syndrome 'Thomas syndrome' SubClassOf 'heart disease' 'Thomas syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thomas syndrome' SubClassOf 'heart disease' 'Thomas syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'immuno-osseous dysplasia' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'myelodysplastic syndrome with multilineage dysplasia' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'immuno-osseous dysplasia' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'myelodysplastic syndrome with multilineage dysplasia' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018045 Hoyeraal-Hreidarsson syndrome 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018044 idiopathic hypersomnia 'idiopathic hypersomnia' SubClassOf 'hypersomnia' 'idiopathic hypersomnia' SubClassOf 'hypersomnia' http://purl.obolibrary.org/obo/MONDO_0018061 trichodermodysplasia-dental alterations syndrome 'trichodermodysplasia-dental alterations syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'trichodermodysplasia-dental alterations syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0018060 congenital fibrinogen deficiency 'congenital fibrinogen deficiency' SubClassOf 'coagulation protein disease' 'congenital fibrinogen deficiency' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0018062 autosomal dominant trichoodontoonychodysplasia-syndactyly 'autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'ectodermal dysplasia syndrome' 'autosomal dominant trichoodontoonychodysplasia-syndactyly' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0018054 familial atrial fibrillation 'familial atrial fibrillation' SubClassOf 'atrial fibrillation' 'familial atrial fibrillation' SubClassOf 'atrial fibrillation' http://purl.obolibrary.org/obo/MONDO_0033673 spermatogenic failure 46 'spermatogenic failure 46' SubClassOf 'azoospermia' 'spermatogenic failure 46' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0018053 trichothiodystrophy 'trichothiodystrophy' SubClassOf 'ectodermal dysplasia syndrome' 'trichothiodystrophy' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0033671 spermatogenic failure 45 'spermatogenic failure 45' SubClassOf 'azoospermia' 'spermatogenic failure 45' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0018055 pediatric hepatocellular carcinoma 'pediatric hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' 'pediatric hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' http://purl.obolibrary.org/obo/MONDO_0033670 hearing loss, autosomal recessive 116 'hearing loss, autosomal recessive 116' SubClassOf 'hearing loss, autosomal recessive' 'hearing loss, autosomal recessive 116' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0018072 persistent truncus arteriosus 'persistent truncus arteriosus' SubClassOf 'conotruncal heart malformations' 'persistent truncus arteriosus' SubClassOf 'congenital heart disease' 'persistent truncus arteriosus' SubClassOf 'conotruncal heart malformations' 'persistent truncus arteriosus' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0018071 trisomy 18 'trisomy 18' SubClassOf 'syndromic disease' 'trisomy 18' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018070 familial multiple fibrofolliculoma 'familial multiple fibrofolliculoma' SubClassOf 'hereditary skin disorder' 'familial multiple fibrofolliculoma' SubClassOf 'hereditary neoplastic syndrome' 'familial multiple fibrofolliculoma' SubClassOf 'hereditary skin disorder' 'familial multiple fibrofolliculoma' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0018069 distal trisomy 17q 'distal trisomy 17q' SubClassOf 'partial duplication of the long arm of chromosome 17' 'distal trisomy 17q' SubClassOf 'partial duplication of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0018068 trisomy 13 'trisomy 13' SubClassOf 'syndromic disease' 'trisomy 13' SubClassOf 'congenital vitreoretinal dysplasia' 'trisomy 13' SubClassOf 'syndromic disease' 'trisomy 13' SubClassOf 'congenital vitreoretinal dysplasia' http://purl.obolibrary.org/obo/MONDO_0018065 isolated trigonocephaly 'isolated trigonocephaly' SubClassOf 'isolated craniosynostosis' 'isolated trigonocephaly' SubClassOf 'isolated craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0018064 trigonocephaly-broad thumbs syndrome 'trigonocephaly-broad thumbs syndrome' SubClassOf 'syndromic craniosynostosis' 'trigonocephaly-broad thumbs syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0018067 triploidy 'triploidy' SubClassOf 'polyploidy' 'triploidy' SubClassOf 'polyploidy' http://purl.obolibrary.org/obo/MONDO_0018066 trisomy X 'trisomy X' SubClassOf 'inherited primary ovarian failure' 'trisomy X' SubClassOf 'syndromic disease' 'trisomy X' SubClassOf 'trisomy' 'trisomy X' SubClassOf 'inherited primary ovarian failure' 'trisomy X' SubClassOf 'syndromic disease' 'trisomy X' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0018083 transient tyrosinemia of the newborn 'transient tyrosinemia of the newborn' SubClassOf 'tyrosinemia' 'transient tyrosinemia of the newborn' SubClassOf 'tyrosinemia' http://purl.obolibrary.org/obo/MONDO_0018085 umbilical cord ulceration-intestinal atresia syndrome 'umbilical cord ulceration-intestinal atresia syndrome' SubClassOf 'syndromic disease' 'umbilical cord ulceration-intestinal atresia syndrome' SubClassOf 'digestive system disease' 'umbilical cord ulceration-intestinal atresia syndrome' SubClassOf 'syndromic disease' 'umbilical cord ulceration-intestinal atresia syndrome' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0043003 familial acanthosis nigricans 'familial acanthosis nigricans' SubClassOf 'acanthosis nigricans' 'familial acanthosis nigricans' SubClassOf 'acanthosis nigricans' http://purl.obolibrary.org/obo/MONDO_0043004 Weil's disease 'Weil's disease' SubClassOf 'leptospirosis' 'Weil's disease' SubClassOf 'leptospirosis' http://purl.obolibrary.org/obo/MONDO_0043009 hereditary lethal multiple congenital anomalies/dysmorphic syndrome 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'disorder of development or morphogenesis' 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0018079 thymic epithelial neoplasm 'thymic epithelial neoplasm' SubClassOf 'epithelial neoplasm' 'thymic epithelial neoplasm' SubClassOf 'thymus neoplasm' 'thymic epithelial neoplasm' SubClassOf 'epithelial neoplasm' 'thymic epithelial neoplasm' SubClassOf 'thymus neoplasm' http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis 'tuberculosis' SubClassOf 'primary bacterial infectious disease' 'tuberculosis' SubClassOf 'primary bacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0018075 neural tube defect 'neural tube defect' SubClassOf 'central nervous system malformation' 'neural tube defect' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018094 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Waardenburg syndrome' SubClassOf 'autosomal dominant disease' 'Waardenburg syndrome' SubClassOf 'syndromic disease' 'Waardenburg syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Waardenburg syndrome' SubClassOf 'autosomal dominant disease' 'Waardenburg syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018096 Weill-Marchesani syndrome 'Weill-Marchesani syndrome' SubClassOf 'autosomal genetic disease' 'Weill-Marchesani syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' 'Weill-Marchesani syndrome' SubClassOf 'acromelic dysplasia' 'Weill-Marchesani syndrome' SubClassOf 'autosomal genetic disease' 'Weill-Marchesani syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' 'Weill-Marchesani syndrome' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0018095 Weaver-Williams syndrome 'Weaver-Williams syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver-Williams syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018092 Vogt-Koyanagi-Harada disease 'Vogt-Koyanagi-Harada disease' SubClassOf 'panuveitis' 'Vogt-Koyanagi-Harada disease' SubClassOf 'panuveitis' http://purl.obolibrary.org/obo/MONDO_0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'syndromic disease' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'genetic disorder' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'skeletal system disease' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'syndromic disease' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'genetic disorder' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'skeletal system disease' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018087 viral hemorrhagic fever 'viral hemorrhagic fever' SubClassOf 'hemorrhagic fever' 'viral hemorrhagic fever' SubClassOf 'hemorrhagic fever' http://purl.obolibrary.org/obo/MONDO_0018086 ulerythema ophryogenesis 'ulerythema ophryogenesis' SubClassOf 'keratosis pilaris atrophicans' 'ulerythema ophryogenesis' SubClassOf 'keratosis pilaris atrophicans' http://purl.obolibrary.org/obo/MONDO_0018089 double outlet right ventricle 'double outlet right ventricle' SubClassOf 'ventricular septal defect' 'double outlet right ventricle' SubClassOf 'conotruncal heart malformations' 'double outlet right ventricle' SubClassOf 'ventricular septal defect' 'double outlet right ventricle' SubClassOf 'conotruncal heart malformations' http://purl.obolibrary.org/obo/MONDO_0018088 familial Mediterranean fever 'familial Mediterranean fever' SubClassOf 'immune system disease' 'familial Mediterranean fever' SubClassOf 'hereditary periodic fever syndrome' 'familial Mediterranean fever' SubClassOf 'immune system disease' 'familial Mediterranean fever' SubClassOf 'hereditary periodic fever syndrome' http://purl.obolibrary.org/obo/MONDO_0018098 autosomal dominant limb-girdle muscular dystrophy type 1E (DES) 'autosomal dominant limb-girdle muscular dystrophy type 1E (DES)' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'autosomal dominant limb-girdle muscular dystrophy type 1E (DES)' SubClassOf 'qualitative or quantitative defects of desmin' 'autosomal dominant limb-girdle muscular dystrophy type 1E (DES)' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'autosomal dominant limb-girdle muscular dystrophy type 1E (DES)' SubClassOf 'qualitative or quantitative defects of desmin' http://purl.obolibrary.org/obo/MONDO_0018097 West syndrome 'West syndrome' SubClassOf 'neonatal/infantile epilepsy syndrome' 'West syndrome' SubClassOf 'infancy electroclinical syndrome' 'West syndrome' SubClassOf 'syndromic disease' 'West syndrome' SubClassOf 'neonatal/infantile epilepsy syndrome' 'West syndrome' SubClassOf 'syndromic disease' 'West syndrome' SubClassOf 'infancy electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0014328 developmental and epileptic encephalopathy, 19 'developmental and epileptic encephalopathy, 19' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 19' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014327 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 'palmoplantar keratoderma, nonepidermolytic, focal or diffuse' SubClassOf 'hereditary palmoplantar keratoderma' 'palmoplantar keratoderma, nonepidermolytic, focal or diffuse' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014326 nemaline myopathy 9 'nemaline myopathy 9' SubClassOf 'childhood-onset nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'typical nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'intermediate nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'severe congenital nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'childhood-onset nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'typical nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'intermediate nemaline myopathy' 'nemaline myopathy 9' SubClassOf 'severe congenital nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'syndromic intellectual disability' 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 'diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome' SubClassOf 'syndromic disease' 'diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014334 severe combined immunodeficiency due to LCK deficiency 'severe combined immunodeficiency due to LCK deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'severe combined immunodeficiency due to LCK deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 'hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'disorder of gluconeogenesis' 'hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'disorder of gluconeogenesis' 'hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'urea cycle disorder or inherited hyperammonemia' http://purl.obolibrary.org/obo/MONDO_0014339 autosomal recessive spinocerebellar ataxia 16 'autosomal recessive spinocerebellar ataxia 16' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 16' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014337 complex cortical dysplasia with other brain malformations 5 'complex cortical dysplasia with other brain malformations 5' SubClassOf 'complex cortical dysplasia with other brain malformations' 'complex cortical dysplasia with other brain malformations 5' SubClassOf 'complex cortical dysplasia with other brain malformations' http://purl.obolibrary.org/obo/MONDO_0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 'intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014331 Moyamoya disease with early-onset achalasia 'Moyamoya disease with early-onset achalasia' SubClassOf 'digestive system disease' 'Moyamoya disease with early-onset achalasia' SubClassOf 'Moyamoya disease' 'Moyamoya disease with early-onset achalasia' SubClassOf 'digestive system disease' 'Moyamoya disease with early-onset achalasia' SubClassOf 'Moyamoya disease' http://purl.obolibrary.org/obo/MONDO_0014343 Desbuquois dysplasia 2 'Desbuquois dysplasia 2' SubClassOf 'Desbuquois dysplasia' 'Desbuquois dysplasia 2' SubClassOf 'Desbuquois dysplasia' http://purl.obolibrary.org/obo/MONDO_0014349 pontocerebellar hypoplasia type 10 'pontocerebellar hypoplasia type 10' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 10' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0014347 short stature with microcephaly and distinctive facies 'short stature with microcephaly and distinctive facies' SubClassOf 'primordial dwarfism and slender bone disorder' 'short stature with microcephaly and distinctive facies' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0014342 female infertility due to zona pellucida defect 'female infertility due to zona pellucida defect' SubClassOf 'inherited oocyte maturation defect' 'female infertility due to zona pellucida defect' SubClassOf 'female infertility' 'female infertility due to zona pellucida defect' SubClassOf 'inherited oocyte maturation defect' 'female infertility due to zona pellucida defect' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0014341 complex cortical dysplasia with other brain malformations 6 'complex cortical dysplasia with other brain malformations 6' SubClassOf 'complex cortical dysplasia with other brain malformations' 'complex cortical dysplasia with other brain malformations 6' SubClassOf 'complex cortical dysplasia with other brain malformations' http://purl.obolibrary.org/obo/MONDO_0014357 intellectual disability, autosomal dominant 24 'intellectual disability, autosomal dominant 24' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 24' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 'cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis' SubClassOf 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' 'cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis' SubClassOf 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' http://purl.obolibrary.org/obo/MONDO_0014353 immunodeficiency 23 'immunodeficiency 23' SubClassOf 'disorder of multiple glycosylation' 'immunodeficiency 23' SubClassOf 'immunodeficiency disease' 'immunodeficiency 23' SubClassOf 'disorder of multiple glycosylation' 'immunodeficiency 23' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014351 pontocerebellar hypoplasia type 9 'pontocerebellar hypoplasia type 9' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 9' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0014350 Seckel syndrome 8 'Seckel syndrome 8' SubClassOf 'Seckel syndrome' 'Seckel syndrome 8' SubClassOf 'primordial dwarfism and slender bone disorder' 'Seckel syndrome 8' SubClassOf 'Seckel syndrome' 'Seckel syndrome 8' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0014368 tumor predisposition syndrome 3 'tumor predisposition syndrome 3' SubClassOf 'susceptibility to familial cutaneous melanoma' 'tumor predisposition syndrome 3' SubClassOf 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 'Aicardi-Goutieres syndrome 7' SubClassOf 'Aicardi-Goutieres syndrome' 'Aicardi-Goutieres syndrome 7' SubClassOf 'IFIH1-related type 1 interferonopathy' 'Aicardi-Goutieres syndrome 7' SubClassOf 'Aicardi-Goutieres syndrome' 'Aicardi-Goutieres syndrome 7' SubClassOf 'IFIH1-related type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0014366 spermatogenic failure 14 'spermatogenic failure 14' SubClassOf 'azoospermia' 'spermatogenic failure 14' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0014365 spermatogenic failure 13 'spermatogenic failure 13' SubClassOf 'azoospermia' 'spermatogenic failure 13' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0014369 postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'dysostosis' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'autosomal dominant disease' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'syndromic disease' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'dysostosis' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'autosomal dominant disease' 'postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014361 autism spectrum disorder due to AUTS2 deficiency 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'syndromic intellectual disability' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'syndromic intellectual disability' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014370 pontocerebellar hypoplasia type 2E 'pontocerebellar hypoplasia type 2E' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 2E' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0014375 congenital diarrhea 7 with exudative enteropathy 'congenital diarrhea 7 with exudative enteropathy' SubClassOf 'congenital diarrhea' 'congenital diarrhea 7 with exudative enteropathy' SubClassOf 'intestinal disease' 'congenital diarrhea 7 with exudative enteropathy' SubClassOf 'congenital diarrhea' 'congenital diarrhea 7 with exudative enteropathy' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0014389 polyglucosan body myopathy 1 with or without immunodeficiency 'polyglucosan body myopathy 1 with or without immunodeficiency' SubClassOf 'polyglucosan body myopathy' 'polyglucosan body myopathy 1 with or without immunodeficiency' SubClassOf 'disorder of glycogen metabolism' 'polyglucosan body myopathy 1 with or without immunodeficiency' SubClassOf 'polyglucosan body myopathy' 'polyglucosan body myopathy 1 with or without immunodeficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0014388 familial median cleft of the upper and lower lips 'familial median cleft of the upper and lower lips' SubClassOf 'orofacial cleft' 'familial median cleft of the upper and lower lips' SubClassOf 'disorder of development or morphogenesis' 'familial median cleft of the upper and lower lips' SubClassOf 'orofacial cleft' 'familial median cleft of the upper and lower lips' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0014387 leukoencephalopathy, progressive, with ovarian failure 'leukoencephalopathy, progressive, with ovarian failure' SubClassOf 'leukoencephalopathy with vanishing white matter' 'leukoencephalopathy, progressive, with ovarian failure' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0014382 Tatton-Brown-Rahman overgrowth syndrome 'Tatton-Brown-Rahman overgrowth syndrome' SubClassOf 'skeletal dysplasia' 'Tatton-Brown-Rahman overgrowth syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Tatton-Brown-Rahman overgrowth syndrome' SubClassOf 'skeletal dysplasia' 'Tatton-Brown-Rahman overgrowth syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome 'colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf 'syndromic microphthalmia' 'colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf 'skeletal dysplasia' 'colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf 'syndromic microphthalmia' 'colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014386 platelet-type bleeding disorder 18 'platelet-type bleeding disorder 18' SubClassOf 'inherited blood coagulation disorder' 'platelet-type bleeding disorder 18' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 18' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 18' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0014383 myopathy, tubular aggregate, 2 'myopathy, tubular aggregate, 2' SubClassOf 'tubular aggregate myopathy' 'myopathy, tubular aggregate, 2' SubClassOf 'tubular aggregate myopathy' http://purl.obolibrary.org/obo/MONDO_0014391 severe combined immunodeficiency due to CTPS1 deficiency 'severe combined immunodeficiency due to CTPS1 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' 'severe combined immunodeficiency due to CTPS1 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014397 combined oxidative phosphorylation defect type 20 'combined oxidative phosphorylation defect type 20' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 20' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014408 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 'megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3' SubClassOf 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' 'megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3' SubClassOf 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' http://purl.obolibrary.org/obo/MONDO_0014407 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 'megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2' SubClassOf 'AKT3-related overgrowth spectrum' 'megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2' SubClassOf 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' 'megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2' SubClassOf 'AKT3-related overgrowth spectrum' 'megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2' SubClassOf 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' http://purl.obolibrary.org/obo/MONDO_0014406 pancreatic agenesis 2 'pancreatic agenesis 2' SubClassOf 'pancreatic agenesis' 'pancreatic agenesis 2' SubClassOf 'pancreatic agenesis' http://purl.obolibrary.org/obo/MONDO_0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome 'tall stature-scoliosis-macrodactyly of the great toes syndrome' SubClassOf 'skeletal dysplasia' 'tall stature-scoliosis-macrodactyly of the great toes syndrome' SubClassOf 'syndromic disease' 'tall stature-scoliosis-macrodactyly of the great toes syndrome' SubClassOf 'skeletal dysplasia' 'tall stature-scoliosis-macrodactyly of the great toes syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014405 STING-associated vasculopathy with onset in infancy 'STING-associated vasculopathy with onset in infancy' SubClassOf 'inflammatory disease' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'type 1 interferonopathy of childhood' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'vascular disease' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'inflammatory disease' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'type 1 interferonopathy of childhood' 'STING-associated vasculopathy with onset in infancy' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0014404 Webb-Dattani syndrome 'Webb-Dattani syndrome' SubClassOf 'genetic disorder' 'Webb-Dattani syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014403 short stature due to GHSR deficiency 'short stature due to GHSR deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' 'short stature due to GHSR deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0014402 severe neurodegenerative syndrome with lipodystrophy 'severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'inherited neurodegenerative disorder' 'severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'hereditary lipodystrophy' 'severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Mendelian encephalopathy' 'severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'inherited neurodegenerative disorder' 'severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'hereditary lipodystrophy' 'severe neurodegenerative syndrome with lipodystrophy' SubClassOf 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0014418 myopathy, centronuclear, 5 'myopathy, centronuclear, 5' SubClassOf 'autosomal recessive centronuclear myopathy' 'myopathy, centronuclear, 5' SubClassOf 'autosomal recessive centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0014410 spinocerebellar ataxia type 37 'spinocerebellar ataxia type 37' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 37' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0014415 kallikrein, decreased urinary activity of 'kallikrein, decreased urinary activity of' SubClassOf 'genetic disorder' 'kallikrein, decreased urinary activity of' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014413 orofaciodigital syndrome type 14 'orofaciodigital syndrome type 14' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'orofaciodigital syndrome type 14' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 14' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 14' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' 'autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0014428 autosomal recessive nonsyndromic hearing loss 102 'autosomal recessive nonsyndromic hearing loss 102' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 102' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0014423 severe combined immunodeficiency due to DNA-PKcs deficiency 'severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'severe combined immunodeficiency due to DNA-PKcs deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014422 vesicoureteral reflux 8 'vesicoureteral reflux 8' SubClassOf 'familial vesicoureteral reflux' 'vesicoureteral reflux 8' SubClassOf 'familial vesicoureteral reflux' http://purl.obolibrary.org/obo/MONDO_0014421 glucocorticoid resistance 'glucocorticoid resistance' SubClassOf 'adrenogenital syndrome' 'glucocorticoid resistance' SubClassOf 'adrenogenital syndrome' http://purl.obolibrary.org/obo/MONDO_0014420 short stature due to primary acid-labile subunit deficiency 'short stature due to primary acid-labile subunit deficiency' SubClassOf 'growth hormone insensitivity syndrome' 'short stature due to primary acid-labile subunit deficiency' SubClassOf 'growth hormone insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0014439 Bardet-Biedl syndrome 11 'Bardet-Biedl syndrome 11' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 11' SubClassOf 'Bardet-Biedl syndrome' http://purl.obolibrary.org/obo/MONDO_0014431 LIPE-related familial partial lipodystrophy 'LIPE-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'LIPE-related familial partial lipodystrophy' SubClassOf 'abdominal obesity-metabolic syndrome' 'LIPE-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'LIPE-related familial partial lipodystrophy' SubClassOf 'abdominal obesity-metabolic syndrome' http://purl.obolibrary.org/obo/MONDO_0004884 eye degenerative disorder 'eye degenerative disorder' SubClassOf 'eye disease' 'eye degenerative disorder' SubClassOf 'neurodegenerative disease' 'eye degenerative disorder' SubClassOf 'eye disease' 'eye degenerative disorder' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0004885 choroidal sclerosis 'choroidal sclerosis' SubClassOf 'eye degenerative disorder' 'choroidal sclerosis' SubClassOf 'optic choroid disorder' 'choroidal sclerosis' SubClassOf 'eye degenerative disorder' 'choroidal sclerosis' SubClassOf 'optic choroid disorder' http://purl.obolibrary.org/obo/MONDO_0004880 bowel dysfunction 'bowel dysfunction' SubClassOf 'intestinal disease' 'bowel dysfunction' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0004882 angioid streaks of choroid 'angioid streaks of choroid' SubClassOf 'angioid streaks' 'angioid streaks of choroid' SubClassOf 'choroidal sclerosis' 'angioid streaks of choroid' SubClassOf 'angioid streaks' 'angioid streaks of choroid' SubClassOf 'choroidal sclerosis' http://purl.obolibrary.org/obo/MONDO_0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'hereditary spastic paraplegia' 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014208 Charcot-Marie-Tooth disease type 2R 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014201 developmental and epileptic encephalopathy, 18 'developmental and epileptic encephalopathy, 18' SubClassOf 'infantile epilepsy syndrome' 'developmental and epileptic encephalopathy, 18' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'developmental and epileptic encephalopathy, 18' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 18' SubClassOf 'infantile epilepsy syndrome' 'developmental and epileptic encephalopathy, 18' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'developmental and epileptic encephalopathy, 18' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014200 aldosterone-producing adenoma with seizures and neurological abnormalities 'aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'familial hyperaldosteronism' 'aldosterone-producing adenoma with seizures and neurological abnormalities' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0004891 hyperopia 'hyperopia' SubClassOf 'refractive error' 'hyperopia' SubClassOf 'refractive error' http://purl.obolibrary.org/obo/MONDO_0004892 refractive error 'refractive error' SubClassOf 'eye disease' 'refractive error' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type C' SubClassOf 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://purl.obolibrary.org/obo/MONDO_0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'syndromic disease' 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014225 hemochromatosis type 5 'hemochromatosis type 5' SubClassOf 'hereditary hemochromatosis' 'hemochromatosis type 5' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0014227 hypopigmentation-punctate palmoplantar keratoderma syndrome 'hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'autosomal dominant disease' 'hypopigmentation-punctate palmoplantar keratoderma syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0014226 idiopathic CD4 lymphocytopenia 'idiopathic CD4 lymphocytopenia' SubClassOf 'immunodeficiency disease' 'idiopathic CD4 lymphocytopenia' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014221 triosephosphate isomerase deficiency 'triosephosphate isomerase deficiency' SubClassOf 'glucose metabolism disease' 'triosephosphate isomerase deficiency' SubClassOf 'disorder of glycolysis' 'triosephosphate isomerase deficiency' SubClassOf 'glucose metabolism disease' 'triosephosphate isomerase deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0014234 reticulate acropigmentation of Kitamura 'reticulate acropigmentation of Kitamura' SubClassOf 'reticulate pigment disorder' 'reticulate acropigmentation of Kitamura' SubClassOf 'hyperpigmentation of the skin' 'reticulate acropigmentation of Kitamura' SubClassOf 'reticulate pigment disorder' 'reticulate acropigmentation of Kitamura' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014232 craniosynostosis 5, susceptibility to 'craniosynostosis 5, susceptibility to' SubClassOf 'predisposes towards' some 'craniosynostosis' 'craniosynostosis 5, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0014247 familial episodic pain syndrome with predominantly lower limb involvement 'familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'syndromic disease' 'familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'familial episodic pain syndrome' 'familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'syndromic disease' 'familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0014246 episodic pain syndrome, familial, 2 'episodic pain syndrome, familial, 2' SubClassOf 'familial episodic pain syndrome' 'episodic pain syndrome, familial, 2' SubClassOf 'familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0014244 hereditary sensory and autonomic neuropathy type 7 'hereditary sensory and autonomic neuropathy type 7' SubClassOf 'hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 7' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0014249 multiple fibroadenoma of the breast 'multiple fibroadenoma of the breast' SubClassOf 'breast benign neoplasm' 'multiple fibroadenoma of the breast' SubClassOf 'breast benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'distal arthrogryposis' 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'disorder of protein N-glycosylation' 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'distal arthrogryposis' 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0014243 Schaaf-Yang syndrome 'Schaaf-Yang syndrome' SubClassOf 'Prader-Willi syndrome' 'Schaaf-Yang syndrome' SubClassOf 'Prader-Willi syndrome' http://purl.obolibrary.org/obo/MONDO_0014242 van Maldergem syndrome 2 'van Maldergem syndrome 2' SubClassOf 'van Maldergem syndrome' 'van Maldergem syndrome 2' SubClassOf 'van Maldergem syndrome' http://purl.obolibrary.org/obo/MONDO_0014241 leukemia, acute lymphoblastic, susceptibility to, 3 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'predisposes towards' some 'acute lymphoblastic leukemia' 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'syndromic disease' 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014252 familial hypobetalipoproteinemia 1 'familial hypobetalipoproteinemia 1' SubClassOf 'hypobetalipoproteinemia' 'familial hypobetalipoproteinemia 1' SubClassOf 'hypobetalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0014269 combined oxidative phosphorylation deficiency 19 'combined oxidative phosphorylation deficiency 19' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 19' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014268 combined immunodeficiency due to OX40 deficiency 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014267 severe combined immunodeficiency due to IKK2 deficiency 'severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' 'severe combined immunodeficiency due to IKK2 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 'growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' 'growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014260 immunodeficiency, common variable, 10 'immunodeficiency, common variable, 10' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 10' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014265 Alzheimer disease 18 'Alzheimer disease 18' SubClassOf 'Alzheimer disease' 'Alzheimer disease 18' SubClassOf 'Alzheimer disease' http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome '8q24.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' '8q24.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' '8q24.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' '8q24.3 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014278 immunodeficiency 18 'immunodeficiency 18' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 18' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' 'immunodeficiency 18' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 18' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' http://purl.obolibrary.org/obo/MONDO_0014272 palmoplantar keratoderma, Nagashima type 'palmoplantar keratoderma, Nagashima type' SubClassOf 'diffuse palmoplantar keratoderma' 'palmoplantar keratoderma, Nagashima type' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014271 STT3B-congenital disorder of glycosylation 'STT3B-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'STT3B-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'STT3B-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'STT3B-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0014270 STT3A-congenital disorder of glycosylation 'STT3A-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'STT3A-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'STT3A-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'STT3A-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0014276 combined immunodeficiency due to CD3gamma deficiency 'combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to CD3gamma deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014274 L-ferritin deficiency 'L-ferritin deficiency' SubClassOf 'hematologic disease' 'L-ferritin deficiency' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0014273 microcephaly-thin corpus callosum-intellectual disability syndrome 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014290 neurodegeneration with brain iron accumulation 6 'neurodegeneration with brain iron accumulation 6' SubClassOf 'neurodegeneration with brain iron accumulation' 'neurodegeneration with brain iron accumulation 6' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0014289 macrocephaly-developmental delay syndrome 'macrocephaly-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'macrocephaly-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014282 hereditary spastic paraplegia 72 'hereditary spastic paraplegia 72' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 72' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014280 immunodeficiency 19 'immunodeficiency 19' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 19' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' 'immunodeficiency 19' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 19' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' http://purl.obolibrary.org/obo/MONDO_0014286 neuropathy, hereditary sensory, type 1F 'neuropathy, hereditary sensory, type 1F' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' 'neuropathy, hereditary sensory, type 1F' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' http://purl.obolibrary.org/obo/MONDO_0014284 short-rib thoracic dysplasia 10 with or without polydactyly 'short-rib thoracic dysplasia 10 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 10 with or without polydactyly' SubClassOf 'Jeune syndrome' http://purl.obolibrary.org/obo/MONDO_0014294 chromosome 15q11.2 deletion syndrome 'chromosome 15q11.2 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' 'chromosome 15q11.2 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' http://purl.obolibrary.org/obo/MONDO_0014292 leukoencephalopathy with mild cerebellar ataxia and white matter edema 'leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'leukodystrophy' 'leukoencephalopathy with mild cerebellar ataxia and white matter edema' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0014295 hereditary spastic paraplegia 57 'hereditary spastic paraplegia 57' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 57' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0004900 peripheral vertigo 'peripheral vertigo' SubClassOf 'vestibular disease' 'peripheral vertigo' SubClassOf 'vestibular disease' http://purl.obolibrary.org/obo/MONDO_0004907 alopecia 'alopecia' SubClassOf 'hair anomaly' 'alopecia' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0004910 mitral valve prolapse 'mitral valve prolapse' SubClassOf 'mitral valve disease' 'mitral valve prolapse' SubClassOf 'mitral valve disease' http://purl.obolibrary.org/obo/MONDO_0004917 internal hordeolum 'internal hordeolum' SubClassOf 'hordeolum' 'internal hordeolum' SubClassOf 'hordeolum' http://purl.obolibrary.org/obo/MONDO_0004923 chronic inflammation of lacrimal passage 'chronic inflammation of lacrimal passage' SubClassOf 'lacrimal apparatus disease' 'chronic inflammation of lacrimal passage' SubClassOf 'lacrimal apparatus disease' http://purl.obolibrary.org/obo/MONDO_0004928 lymph node disorder 'lymph node disorder' SubClassOf 'lymphatic system disease' 'lymph node disorder' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/MONDO_0004924 chronic canaliculitis 'chronic canaliculitis' SubClassOf 'chronic inflammation of lacrimal passage' 'chronic canaliculitis' SubClassOf 'chronic inflammation of lacrimal passage' http://purl.obolibrary.org/obo/MONDO_0004934 periostitis 'periostitis' SubClassOf 'bone disease' 'periostitis' SubClassOf 'inflammatory disease' 'periostitis' SubClassOf 'connective tissue disease' 'periostitis' SubClassOf 'bone disease' 'periostitis' SubClassOf 'inflammatory disease' 'periostitis' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/MONDO_0004933 hypoplastic left heart syndrome 'hypoplastic left heart syndrome' SubClassOf 'syndromic disease' 'hypoplastic left heart syndrome' SubClassOf 'congenital heart disease' 'hypoplastic left heart syndrome' SubClassOf 'univentricular cardiopathy' 'hypoplastic left heart syndrome' SubClassOf 'syndromic disease' 'hypoplastic left heart syndrome' SubClassOf 'congenital heart disease' 'hypoplastic left heart syndrome' SubClassOf 'univentricular cardiopathy' http://purl.obolibrary.org/obo/MONDO_0004938 substance dependence 'substance dependence' SubClassOf 'substance-related disorder' 'substance dependence' SubClassOf 'substance-related disorder' http://purl.obolibrary.org/obo/MONDO_0004943 orbit sarcoma 'orbit sarcoma' SubClassOf 'sarcoma' 'orbit sarcoma' SubClassOf 'orbital cancer' 'orbit sarcoma' SubClassOf 'sarcoma' 'orbit sarcoma' SubClassOf 'orbital cancer' http://purl.obolibrary.org/obo/MONDO_0004944 neurosyphilis 'neurosyphilis' SubClassOf 'tertiary syphilis' 'neurosyphilis' SubClassOf 'tertiary syphilis' http://purl.obolibrary.org/obo/MONDO_0004951 susceptibility to HIV infection 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'HIV infection') 'susceptibility to HIV infection' SubClassOf 'predisposes towards' some 'HIV infection' 'susceptibility to HIV infection' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'HIV infection' 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'HIV infection') http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis 'amyotrophic lateral sclerosis' SubClassOf 'anterior horn disorder' 'amyotrophic lateral sclerosis' SubClassOf 'motor neuron disease' 'amyotrophic lateral sclerosis' SubClassOf 'anterior horn disorder' 'amyotrophic lateral sclerosis' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0004975 Alzheimer disease 'Alzheimer disease' SubClassOf 'tauopathy' 'Alzheimer disease' SubClassOf 'dementia' 'Alzheimer disease' SubClassOf 'tauopathy' 'Alzheimer disease' SubClassOf 'dementia' http://purl.obolibrary.org/obo/MONDO_0004979 asthma 'asthma' SubClassOf 'bronchial disease' 'asthma' SubClassOf 'bronchial disease' http://purl.obolibrary.org/obo/MONDO_0004986 urinary bladder carcinoma 'urinary bladder carcinoma' SubClassOf 'urinary bladder cancer' 'urinary bladder carcinoma' SubClassOf 'carcinoma' 'urinary bladder carcinoma' SubClassOf 'urinary bladder cancer' 'urinary bladder carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0004985 bipolar disorder 'bipolar disorder' SubClassOf 'mood disorder' 'bipolar disorder' SubClassOf 'mood disorder' http://purl.obolibrary.org/obo/MONDO_0014302 hereditary spastic paraplegia 62 'hereditary spastic paraplegia 62' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 62' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014300 proximal myopathy with extrapyramidal signs 'proximal myopathy with extrapyramidal signs' SubClassOf 'myopathy' 'proximal myopathy with extrapyramidal signs' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0014306 vasculitis due to ADA2 deficiency 'vasculitis due to ADA2 deficiency' SubClassOf 'deficiency of adenosine deaminase 2' 'vasculitis due to ADA2 deficiency' SubClassOf 'vasculitis' 'vasculitis due to ADA2 deficiency' SubClassOf 'deficiency of adenosine deaminase 2' 'vasculitis due to ADA2 deficiency' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0014305 hereditary spastic paraplegia 63 'hereditary spastic paraplegia 63' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 63' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014304 hereditary spastic paraplegia 61 'hereditary spastic paraplegia 61' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 61' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014303 hereditary spastic paraplegia 64 'hereditary spastic paraplegia 64' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 64' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0004992 cancer 'cancer' SubClassOf 'neoplasm' 'cancer' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'inborn error of immunity' 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0014311 autosomal recessive spinocerebellar ataxia 15 'autosomal recessive spinocerebellar ataxia 15' SubClassOf 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' 'autosomal recessive spinocerebellar ataxia 15' SubClassOf 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'hereditary poikiloderma' 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'respiratory system disease' 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'hereditary poikiloderma' 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0014317 pancytopenia-developmental delay syndrome 'pancytopenia-developmental delay syndrome' SubClassOf 'bone marrow failure syndrome' 'pancytopenia-developmental delay syndrome' SubClassOf 'inherited aplastic anemia' 'pancytopenia-developmental delay syndrome' SubClassOf 'bone marrow failure syndrome' 'pancytopenia-developmental delay syndrome' SubClassOf 'inherited aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 'sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'neural tube defect' 'sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0004768 keratoconjunctivitis 'keratoconjunctivitis' SubClassOf 'conjunctivitis' 'keratoconjunctivitis' SubClassOf 'keratitis' 'keratoconjunctivitis' SubClassOf 'conjunctivitis' 'keratoconjunctivitis' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0004763 carotid artery dissection 'carotid artery dissection' SubClassOf 'carotid artery disease' 'carotid artery dissection' SubClassOf 'carotid artery disease' http://purl.obolibrary.org/obo/MONDO_0004777 acute laryngitis 'acute laryngitis' SubClassOf 'laryngitis' 'acute laryngitis' SubClassOf 'laryngitis' http://purl.obolibrary.org/obo/MONDO_0004773 iridocyclitis 'iridocyclitis' SubClassOf 'anterior uveitis' 'iridocyclitis' SubClassOf 'iritis' 'iridocyclitis' SubClassOf 'anterior uveitis' 'iridocyclitis' SubClassOf 'iritis' http://purl.obolibrary.org/obo/MONDO_0004789 cholangitis 'cholangitis' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'cholangitis' SubClassOf 'inflammatory disease' 'cholangitis' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'cholangitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0004788 cervix squamous papilloma 'cervix squamous papilloma' SubClassOf 'cervical benign neoplasm' 'cervix squamous papilloma' SubClassOf 'squamous papilloma' 'cervix squamous papilloma' SubClassOf 'cervical benign neoplasm' 'cervix squamous papilloma' SubClassOf 'squamous papilloma' http://purl.obolibrary.org/obo/MONDO_0004784 allergic asthma 'allergic asthma' SubClassOf 'asthma' 'allergic asthma' SubClassOf 'asthma' http://purl.obolibrary.org/obo/MONDO_0004786 chronic cholangitis 'chronic cholangitis' SubClassOf 'cholangitis' 'chronic cholangitis' SubClassOf 'cholangitis' http://purl.obolibrary.org/obo/MONDO_0004782 diabetes insipidus 'diabetes insipidus' SubClassOf 'kidney disease' 'diabetes insipidus' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0014101 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0014108 Fanconi anemia complementation group Q 'Fanconi anemia complementation group Q' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group Q' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0004790 fatty liver disease 'fatty liver disease' SubClassOf 'liver disease' 'fatty liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity 'hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'leukodystrophy' 'hypomyelination with brain stem and spinal cord involvement and leg spasticity' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0014119 intellectual disability-strabismus syndrome 'intellectual disability-strabismus syndrome' SubClassOf 'disorder of visual system' 'intellectual disability-strabismus syndrome' SubClassOf 'syndromic disease' 'intellectual disability-strabismus syndrome' SubClassOf 'disorder of visual system' 'intellectual disability-strabismus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014117 Charcot-Marie-Tooth disease type 4B3 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B3' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0014126 Perrault syndrome 4 'Perrault syndrome 4' SubClassOf 'Perrault syndrome' 'Perrault syndrome 4' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0014125 symphalangism, proximal, 1B 'symphalangism, proximal, 1B' SubClassOf 'proximal symphalangism' 'symphalangism, proximal, 1B' SubClassOf 'proximal symphalangism' http://purl.obolibrary.org/obo/MONDO_0014128 TCF12-related craniosynostosis 'TCF12-related craniosynostosis' SubClassOf 'syndromic craniosynostosis' 'TCF12-related craniosynostosis' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0014127 oculocutaneous albinism type 5 'oculocutaneous albinism type 5' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 5' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0014122 myofibromatosis, infantile, 2 'myofibromatosis, infantile, 2' SubClassOf 'infantile myofibromatosis' 'myofibromatosis, infantile, 2' SubClassOf 'infantile myofibromatosis' http://purl.obolibrary.org/obo/MONDO_0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0014120 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0014137 precocious puberty, central, 2 'precocious puberty, central, 2' SubClassOf 'Central precocious puberty' 'precocious puberty, central, 2' SubClassOf 'Central precocious puberty' http://purl.obolibrary.org/obo/MONDO_0014136 pulmonary hypertension, primary, 4 'pulmonary hypertension, primary, 4' SubClassOf 'heritable pulmonary arterial hypertension' 'pulmonary hypertension, primary, 4' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0014135 pulmonary hypertension, primary, 3 'pulmonary hypertension, primary, 3' SubClassOf 'heritable pulmonary arterial hypertension' 'pulmonary hypertension, primary, 3' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0014134 pulmonary hypertension, primary, 2 'pulmonary hypertension, primary, 2' SubClassOf 'heritable pulmonary arterial hypertension' 'pulmonary hypertension, primary, 2' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 'Ehlers-Danlos syndrome, spondylodysplastic type, 2' SubClassOf 'Ehlers-Danlos syndrome, spondylodysplastic type' 'Ehlers-Danlos syndrome, spondylodysplastic type, 2' SubClassOf 'Ehlers-Danlos syndrome, spondylodysplastic type' http://purl.obolibrary.org/obo/MONDO_0014138 nemaline myopathy 8 'nemaline myopathy 8' SubClassOf 'severe congenital nemaline myopathy' 'nemaline myopathy 8' SubClassOf 'severe congenital nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0014132 multiple mitochondrial dysfunctions syndrome 3 'multiple mitochondrial dysfunctions syndrome 3' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 3' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 'hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014147 neuronal ceroid lipofuscinosis 13 'neuronal ceroid lipofuscinosis 13' SubClassOf 'adult neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 13' SubClassOf 'adult neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0014145 Leber congenital amaurosis 17 'Leber congenital amaurosis 17' SubClassOf 'Leber congenital amaurosis' 'Leber congenital amaurosis 17' SubClassOf 'Leber congenital amaurosis' http://purl.obolibrary.org/obo/MONDO_0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome 'fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'lethal congenital contracture syndrome' 'fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'congenital myopathy' 'fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'lethal congenital contracture syndrome' 'fetal akinesia-cerebral and retinal hemorrhage syndrome' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0014140 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14' SubClassOf 'myopathy caused by variation in GMPPB' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14' SubClassOf 'myopathy caused by variation in GMPPB' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0014144 autosomal recessive limb-girdle muscular dystrophy type R18 'autosomal recessive limb-girdle muscular dystrophy type R18' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type R18' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014142 autosomal recessive limb-girdle muscular dystrophy type 2T 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'myopathy caused by variation in GMPPB' 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'myopathy caused by variation in GMPPB' http://purl.obolibrary.org/obo/MONDO_0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14' SubClassOf 'myopathy caused by variation in GMPPB' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14' SubClassOf 'myopathy caused by variation in GMPPB' http://purl.obolibrary.org/obo/MONDO_0014159 autosomal recessive spinocerebellar ataxia 14 'autosomal recessive spinocerebellar ataxia 14' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 14' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014158 nephronophthisis 16 'nephronophthisis 16' SubClassOf 'nephronophthisis' 'nephronophthisis 16' SubClassOf 'nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0014157 mandibular hypoplasia-deafness-progeroid syndrome 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'premature aging syndrome' 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'premature aging syndrome' http://purl.obolibrary.org/obo/MONDO_0014154 Charcot-Marie-Tooth disease recessive intermediate C 'Charcot-Marie-Tooth disease recessive intermediate C' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease recessive intermediate C' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0014169 dyschromatosis universalis hereditaria 3 'dyschromatosis universalis hereditaria 3' SubClassOf 'dyschromatosis universalis hereditaria' 'dyschromatosis universalis hereditaria 3' SubClassOf 'dyschromatosis universalis hereditaria' http://purl.obolibrary.org/obo/MONDO_0014168 severe combined immunodeficiency due to CORO1A deficiency 'severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'severe combined immunodeficiency due to CORO1A deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 'infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' 'infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014160 TCR-alpha-beta-positive T-cell deficiency 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'non-SCID combined immunodeficiency' 'TCR-alpha-beta-positive T-cell deficiency' SubClassOf 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria 2 'paroxysmal nocturnal hemoglobinuria 2' SubClassOf 'paroxysmal nocturnal hemoglobinuria' 'paroxysmal nocturnal hemoglobinuria 2' SubClassOf 'paroxysmal nocturnal hemoglobinuria' http://purl.obolibrary.org/obo/MONDO_0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'skeletal system disease' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'skeletal system disease' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' http://purl.obolibrary.org/obo/MONDO_0014163 left ventricular noncompaction 10 'left ventricular noncompaction 10' SubClassOf 'left ventricular noncompaction' 'left ventricular noncompaction 10' SubClassOf 'left ventricular noncompaction' http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 'epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'inherited neurodegenerative disorder' 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 'mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014190 combined oxidative phosphorylation defect type 17 'combined oxidative phosphorylation defect type 17' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 17' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014189 age related macular degeneration 13 'age related macular degeneration 13' SubClassOf 'predisposes towards' some 'age-related macular degeneration' 'age related macular degeneration 13' SubClassOf 'age related macular degeneration, susceptibility to' 'age related macular degeneration 13' SubClassOf 'age related macular degeneration, susceptibility to' 'age related macular degeneration 13' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0014185 chromosome 3q13.31 deletion syndrome 'chromosome 3q13.31 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' 'chromosome 3q13.31 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0014195 microcornea-myopic chorioretinal atrophy 'microcornea-myopic chorioretinal atrophy' SubClassOf 'inherited retinal dystrophy' 'microcornea-myopic chorioretinal atrophy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0014198 mitochondrial DNA depletion syndrome 13 'mitochondrial DNA depletion syndrome 13' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' 'mitochondrial DNA depletion syndrome 13' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' http://purl.obolibrary.org/obo/MONDO_0014197 combined immunodeficiency due to MALT1 deficiency 'combined immunodeficiency due to MALT1 deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to MALT1 deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014196 Hartsfield-Bixler-Demyer syndrome 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'syndromic disease' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'skeletal dysplasia' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'syndromic disease' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0004800 chronic dacryoadenitis 'chronic dacryoadenitis' SubClassOf 'dacryoadenitis' 'chronic dacryoadenitis' SubClassOf 'dacryoadenitis' http://purl.obolibrary.org/obo/MONDO_0004804 dacryoadenitis 'dacryoadenitis' SubClassOf 'inflammatory disease' 'dacryoadenitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0004806 chronic eosinophilic pneumonia 'chronic eosinophilic pneumonia' SubClassOf 'eosinophilic pneumonia' 'chronic eosinophilic pneumonia' SubClassOf 'eosinophilic pneumonia' http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disorder 'leukocyte disorder' SubClassOf 'hematologic disease' 'leukocyte disorder' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0004810 acute ethmoiditis 'acute ethmoiditis' SubClassOf 'ethmoid sinusitis' 'acute ethmoiditis' SubClassOf 'ethmoid sinusitis' http://purl.obolibrary.org/obo/MONDO_0004812 acute dacryoadenitis 'acute dacryoadenitis' SubClassOf 'dacryoadenitis' 'acute dacryoadenitis' SubClassOf 'dacryoadenitis' http://purl.obolibrary.org/obo/MONDO_0004816 refractory plasma cell neoplasm 'refractory plasma cell neoplasm' SubClassOf 'refractory hematologic cancer' 'refractory plasma cell neoplasm' SubClassOf 'plasma cell neoplasm' 'refractory plasma cell neoplasm' SubClassOf 'refractory hematologic cancer' 'refractory plasma cell neoplasm' SubClassOf 'plasma cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0004822 bronchiectasis 'bronchiectasis' SubClassOf 'chronic obstructive pulmonary disease' 'bronchiectasis' SubClassOf 'bronchial disease' 'bronchiectasis' SubClassOf 'chronic obstructive pulmonary disease' 'bronchiectasis' SubClassOf 'bronchial disease' http://purl.obolibrary.org/obo/MONDO_0004821 nasopharyngeal disorder 'nasopharyngeal disorder' SubClassOf 'upper respiratory tract disorder' 'nasopharyngeal disorder' SubClassOf 'upper respiratory tract disorder' http://purl.obolibrary.org/obo/MONDO_0004820 peripheral nerve schwannoma 'peripheral nerve schwannoma' SubClassOf 'schwannoma' 'peripheral nerve schwannoma' SubClassOf 'schwannoma' http://purl.obolibrary.org/obo/MONDO_0004826 urethral calculus 'urethral calculus' SubClassOf 'lower urinary tract calculus' 'urethral calculus' SubClassOf 'lower urinary tract calculus' http://purl.obolibrary.org/obo/MONDO_0004827 esophagus squamous cell papilloma 'esophagus squamous cell papilloma' SubClassOf 'squamous papilloma' 'esophagus squamous cell papilloma' SubClassOf 'benign neoplasm of esophagus' 'esophagus squamous cell papilloma' SubClassOf 'squamous papilloma' 'esophagus squamous cell papilloma' SubClassOf 'benign neoplasm of esophagus' http://purl.obolibrary.org/obo/MONDO_0004832 esophagus leiomyoma 'esophagus leiomyoma' SubClassOf 'leiomyoma' 'esophagus leiomyoma' SubClassOf 'benign neoplasm of esophagus' 'esophagus leiomyoma' SubClassOf 'leiomyoma' 'esophagus leiomyoma' SubClassOf 'benign neoplasm of esophagus' http://purl.obolibrary.org/obo/MONDO_0004830 fasciitis 'fasciitis' SubClassOf 'connective tissue disease' 'fasciitis' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/MONDO_0004844 oral mucosa leukoplakia 'oral mucosa leukoplakia' SubClassOf 'leukoplakia' 'oral mucosa leukoplakia' SubClassOf 'leukoplakia' http://purl.obolibrary.org/obo/MONDO_0004843 pathologic nystagmus 'pathologic nystagmus' SubClassOf 'ocular motility disease' 'pathologic nystagmus' SubClassOf 'ocular motility disease' http://purl.obolibrary.org/obo/MONDO_0004848 ulcerative stomatitis 'ulcerative stomatitis' SubClassOf 'stomatitis' 'ulcerative stomatitis' SubClassOf 'stomatitis' http://purl.obolibrary.org/obo/MONDO_0004847 senile cataract 'senile cataract' SubClassOf 'cataract' 'senile cataract' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0004857 tendinitis 'tendinitis' SubClassOf 'myositis' 'tendinitis' SubClassOf 'myositis' http://purl.obolibrary.org/obo/MONDO_0004853 gonococcal endophthalmia 'gonococcal endophthalmia' SubClassOf 'endophthalmitis' 'gonococcal endophthalmia' SubClassOf 'gonorrhea' 'gonococcal endophthalmia' SubClassOf 'endophthalmitis' 'gonococcal endophthalmia' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/MONDO_0004867 upper respiratory tract disorder 'upper respiratory tract disorder' SubClassOf 'respiratory system disease' 'upper respiratory tract disorder' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0004863 purulent endophthalmitis 'purulent endophthalmitis' SubClassOf 'endophthalmitis' 'purulent endophthalmitis' SubClassOf 'endophthalmitis' http://purl.obolibrary.org/obo/MONDO_0004869 pelvic varices 'pelvic varices' SubClassOf 'varicose disease' 'pelvic varices' SubClassOf 'varicose disease' http://purl.obolibrary.org/obo/MONDO_0004874 ganglion or cyst of synovium/tendon/bursa 'ganglion or cyst of synovium/tendon/bursa' SubClassOf 'joint disease' 'ganglion or cyst of synovium/tendon/bursa' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0004647 in situ carcinoma 'in situ carcinoma' SubClassOf 'carcinoma' 'in situ carcinoma' SubClassOf 'precancerous condition' 'in situ carcinoma' SubClassOf 'carcinoma' 'in situ carcinoma' SubClassOf 'precancerous condition' http://purl.obolibrary.org/obo/MONDO_0004641 skin carcinoma in situ 'skin carcinoma in situ' SubClassOf 'in situ carcinoma' 'skin carcinoma in situ' SubClassOf 'skin carcinoma' 'skin carcinoma in situ' SubClassOf 'in situ carcinoma' 'skin carcinoma in situ' SubClassOf 'skin carcinoma' http://purl.obolibrary.org/obo/MONDO_0004643 myeloid leukemia 'myeloid leukemia' SubClassOf 'leukemia' 'myeloid leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0004640 alcoholic gastritis 'alcoholic gastritis' SubClassOf 'gastritis' 'alcoholic gastritis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0004649 anaerobic pneumonia 'anaerobic pneumonia' SubClassOf 'bacterial pneumonia' 'anaerobic pneumonia' SubClassOf 'bacterial pneumonia' http://purl.obolibrary.org/obo/MONDO_0004657 disseminated chorioretinitis 'disseminated chorioretinitis' SubClassOf 'chorioretinitis' 'disseminated chorioretinitis' SubClassOf 'chorioretinitis' http://purl.obolibrary.org/obo/MONDO_0004659 eye carcinoma in situ 'eye carcinoma in situ' SubClassOf 'in situ carcinoma' 'eye carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004658 breast carcinoma in situ 'breast carcinoma in situ' SubClassOf 'in situ carcinoma' 'breast carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative 'atypical chronic myeloid leukemia, BCR-ABL1 negative' SubClassOf 'myelodysplastic/myeloproliferative disease' 'atypical chronic myeloid leukemia, BCR-ABL1 negative' SubClassOf 'myeloid leukemia' 'atypical chronic myeloid leukemia, BCR-ABL1 negative' SubClassOf 'Myelodysplastic/Myeloproliferative Neoplasm' 'atypical chronic myeloid leukemia, BCR-ABL1 negative' SubClassOf 'myelodysplastic/myeloproliferative disease' 'atypical chronic myeloid leukemia, BCR-ABL1 negative' SubClassOf 'myeloid leukemia' 'atypical chronic myeloid leukemia, BCR-ABL1 negative' SubClassOf 'Myelodysplastic/Myeloproliferative Neoplasm' http://purl.obolibrary.org/obo/MONDO_0004650 malignant carotid body paraganglioma 'malignant carotid body paraganglioma' SubClassOf 'carotid body paraganglioma' 'malignant carotid body paraganglioma' SubClassOf 'malignant endocrine neoplasm' 'malignant carotid body paraganglioma' SubClassOf 'head and neck malignant neoplasia' 'malignant carotid body paraganglioma' SubClassOf 'carotid body paraganglioma' 'malignant carotid body paraganglioma' SubClassOf 'malignant endocrine neoplasm' 'malignant carotid body paraganglioma' SubClassOf 'head and neck malignant neoplasia' http://purl.obolibrary.org/obo/MONDO_0004667 sublingual gland cancer 'sublingual gland cancer' SubClassOf 'Sublingual Gland Neoplasms' 'sublingual gland cancer' SubClassOf 'Sublingual Gland Neoplasms' http://purl.obolibrary.org/obo/MONDO_0004669 salivary gland cancer 'salivary gland cancer' SubClassOf 'Mixed Tumor of the Salivary Gland' 'salivary gland cancer' SubClassOf 'oral cavity cancer' 'salivary gland cancer' SubClassOf 'head and neck malignant neoplasia' 'salivary gland cancer' SubClassOf 'Mixed Tumor of the Salivary Gland' 'salivary gland cancer' SubClassOf 'oral cavity cancer' 'salivary gland cancer' SubClassOf 'head and neck malignant neoplasia' http://purl.obolibrary.org/obo/MONDO_0004663 colon carcinoma in situ 'colon carcinoma in situ' SubClassOf 'intestine carcinoma in situ' 'colon carcinoma in situ' SubClassOf 'intestine carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0004660 lung carcinoma in situ 'lung carcinoma in situ' SubClassOf 'lung carcinoma' 'lung carcinoma in situ' SubClassOf 'in situ carcinoma' 'lung carcinoma in situ' SubClassOf 'lung carcinoma' 'lung carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004661 trachea carcinoma in situ 'trachea carcinoma in situ' SubClassOf 'Tracheal Squamous Cell Carcinoma' 'trachea carcinoma in situ' SubClassOf 'squamous carcinoma in situ' 'trachea carcinoma in situ' SubClassOf 'Tracheal Squamous Cell Carcinoma' 'trachea carcinoma in situ' SubClassOf 'squamous carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0004679 leukoplakia of vagina 'leukoplakia of vagina' SubClassOf 'vaginal disorder' 'leukoplakia of vagina' SubClassOf 'vaginal disorder' http://purl.obolibrary.org/obo/MONDO_0004678 dermatophytosis 'dermatophytosis' SubClassOf 'superficial mycosis' 'dermatophytosis' SubClassOf 'superficial mycosis' http://purl.obolibrary.org/obo/MONDO_0004675 mitochondrial encephalomyopathy 'mitochondrial encephalomyopathy' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial encephalomyopathy' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0004674 chorioretinitis 'chorioretinitis' SubClassOf 'uveitis' 'chorioretinitis' SubClassOf 'uveitis' http://purl.obolibrary.org/obo/MONDO_0004671 penis carcinoma in situ 'penis carcinoma in situ' SubClassOf 'squamous cell carcinoma of penis' 'penis carcinoma in situ' SubClassOf 'squamous carcinoma in situ' 'penis carcinoma in situ' SubClassOf 'squamous cell carcinoma of penis' 'penis carcinoma in situ' SubClassOf 'squamous carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0004670 lupus erythematosus 'lupus erythematosus' SubClassOf 'rheumatic disease' 'lupus erythematosus' SubClassOf 'type II hypersensitivity reaction disease' 'lupus erythematosus' SubClassOf 'rheumatic disease' 'lupus erythematosus' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0004689 inborn metal metabolism disorder 'inborn metal metabolism disorder' SubClassOf 'inborn errors of metabolism' 'inborn metal metabolism disorder' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0004685 Waldeyer's ring cancer 'Waldeyer's ring cancer' SubClassOf 'oropharynx cancer' 'Waldeyer's ring cancer' SubClassOf 'oropharynx cancer' http://purl.obolibrary.org/obo/MONDO_0004681 learning disability 'learning disability' SubClassOf 'specific developmental disorder' 'learning disability' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0004680 primary thrombocytopenia 'primary thrombocytopenia' SubClassOf 'autoimmune disorder of blood' 'primary thrombocytopenia' SubClassOf 'autoimmune disorder of blood' http://purl.obolibrary.org/obo/MONDO_0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis 'immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'primary membranoproliferative glomerulonephritis' 'immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'familial nephrotic syndrome' 'immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'primary membranoproliferative glomerulonephritis' 'immunoglobulin-mediated membranoproliferative glomerulonephritis' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0014002 autosomal dominant nocturnal frontal lobe epilepsy 5 'autosomal dominant nocturnal frontal lobe epilepsy 5' SubClassOf 'autosomal dominant nocturnal frontal lobe epilepsy' 'autosomal dominant nocturnal frontal lobe epilepsy 5' SubClassOf 'sleep-related hypermotor epilepsy' 'autosomal dominant nocturnal frontal lobe epilepsy 5' SubClassOf 'autosomal dominant nocturnal frontal lobe epilepsy' 'autosomal dominant nocturnal frontal lobe epilepsy 5' SubClassOf 'sleep-related hypermotor epilepsy' http://purl.obolibrary.org/obo/MONDO_0014008 phosphohydroxylysinuria 'phosphohydroxylysinuria' SubClassOf 'genetic disorder' 'phosphohydroxylysinuria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014007 Aicardi-Goutieres syndrome 6 'Aicardi-Goutieres syndrome 6' SubClassOf 'ADAR-related type 1 interferonopathy' 'Aicardi-Goutieres syndrome 6' SubClassOf 'Aicardi-Goutieres syndrome' 'Aicardi-Goutieres syndrome 6' SubClassOf 'ADAR-related type 1 interferonopathy' 'Aicardi-Goutieres syndrome 6' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0014006 Schuurs-Hoeijmakers syndrome 'Schuurs-Hoeijmakers syndrome' SubClassOf 'syndromic intellectual disability' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'syndromic intellectual disability' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0004697 esophageal leukoplakia 'esophageal leukoplakia' SubClassOf 'leukoplakia' 'esophageal leukoplakia' SubClassOf 'esophageal disease' 'esophageal leukoplakia' SubClassOf 'leukoplakia' 'esophageal leukoplakia' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0004696 larynx carcinoma in situ 'larynx carcinoma in situ' SubClassOf 'in situ carcinoma' 'larynx carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004699 gastrointestinal lymphoma 'gastrointestinal lymphoma' SubClassOf 'digestive system cancer' 'gastrointestinal lymphoma' SubClassOf 'lymphoma' 'gastrointestinal lymphoma' SubClassOf 'digestive system cancer' 'gastrointestinal lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0004698 intestine carcinoma in situ 'intestine carcinoma in situ' SubClassOf 'in situ carcinoma' 'intestine carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004693 squamous carcinoma in situ 'squamous carcinoma in situ' EquivalentTo 'in situ carcinoma' and 'squamous cell carcinoma' 'squamous carcinoma in situ' SubClassOf 'squamous cell carcinoma' 'squamous carcinoma in situ' SubClassOf 'in situ carcinoma' 'squamous carcinoma in situ' EquivalentTo 'in situ carcinoma' and 'squamous cell carcinoma' 'squamous carcinoma in situ' SubClassOf 'squamous cell carcinoma' 'squamous carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004695 liver lymphoma 'liver lymphoma' SubClassOf 'liver cancer' 'liver lymphoma' SubClassOf 'gastrointestinal lymphoma' 'liver lymphoma' SubClassOf 'liver cancer' 'liver lymphoma' SubClassOf 'gastrointestinal lymphoma' http://purl.obolibrary.org/obo/MONDO_0014016 hereditary spastic paraplegia 49 'hereditary spastic paraplegia 49' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 49' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014015 hereditary spastic paraplegia 56 'hereditary spastic paraplegia 56' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 56' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 'epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0014013 maternal riboflavin deficiency 'maternal riboflavin deficiency' SubClassOf 'ariboflavinosis' 'maternal riboflavin deficiency' SubClassOf 'disorder of metabolite absorption and transport' 'maternal riboflavin deficiency' SubClassOf 'ariboflavinosis' 'maternal riboflavin deficiency' SubClassOf 'disorder of metabolite absorption and transport' http://purl.obolibrary.org/obo/MONDO_0014018 hereditary spastic paraplegia 54 'hereditary spastic paraplegia 54' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 54' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014017 intellectual developmental disorder with autism and macrocephaly 'intellectual developmental disorder with autism and macrocephaly' SubClassOf 'autism, susceptiblity to' 'intellectual developmental disorder with autism and macrocephaly' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0014012 Charcot-Marie-Tooth disease axonal type 2Q 'Charcot-Marie-Tooth disease axonal type 2Q' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2Q' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014025 lower motor neuron syndrome with late-adult onset 'lower motor neuron syndrome with late-adult onset' SubClassOf 'proximal spinal muscular atrophy' 'lower motor neuron syndrome with late-adult onset' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0014024 hereditary spastic paraplegia 43 'hereditary spastic paraplegia 43' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 43' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014028 distal arthrogryposis type 5D 'distal arthrogryposis type 5D' SubClassOf 'distal arthrogryposis' 'distal arthrogryposis type 5D' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'disorder of multiple glycosylation' 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'congenital disorder of glycosylation type I' 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'disorder of multiple glycosylation' 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10' SubClassOf 'muscle-eye-brain disease' http://purl.obolibrary.org/obo/MONDO_0014021 familial episodic pain syndrome with predominantly upper body involvement 'familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'familial episodic pain syndrome' 'familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0014020 hereditary spastic paraplegia 55 'hereditary spastic paraplegia 55' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 55' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014038 colorectal cancer, susceptibility to, 12 'colorectal cancer, susceptibility to, 12' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 12' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0014037 spermatogenic failure 11 'spermatogenic failure 11' SubClassOf 'azoospermia' 'spermatogenic failure 11' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0014035 severe intellectual disability-progressive spastic diplegia syndrome 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014039 mitochondrial DNA depletion syndrome 11 'mitochondrial DNA depletion syndrome 11' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 11' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'syndromic intellectual disability' 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014033 dystonia 25 'dystonia 25' SubClassOf 'focal, segmental or multifocal dystonia' 'dystonia 25' SubClassOf 'multifocal dystonia' 'dystonia 25' SubClassOf 'focal, segmental or multifocal dystonia' 'dystonia 25' SubClassOf 'multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0014031 microcephalic primordial dwarfism, Alazami type 'microcephalic primordial dwarfism, Alazami type' SubClassOf 'syndromic disease' 'microcephalic primordial dwarfism, Alazami type' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic primordial dwarfism, Alazami type' SubClassOf 'syndromic disease' 'microcephalic primordial dwarfism, Alazami type' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0014048 Cowden syndrome 6 'Cowden syndrome 6' SubClassOf 'Cowden disease' 'Cowden syndrome 6' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0014047 Cowden syndrome 5 'Cowden syndrome 5' SubClassOf 'Cowden disease' 'Cowden syndrome 5' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0014045 Cowden syndrome 3 'Cowden syndrome 3' SubClassOf 'Cowden disease' 'Cowden syndrome 3' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0014044 dysmorphism-conductive hearing loss-heart defect syndrome 'dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0014043 microcephalic primordial dwarfism due to ZNF335 deficiency 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'autosomal recessive primary microcephaly' 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'skeletal dysplasia' 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'autosomal recessive primary microcephaly' 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014058 facial dysmorphism-immunodeficiency-livedo-short stature syndrome 'facial dysmorphism-immunodeficiency-livedo-short stature syndrome' SubClassOf 'genetic disorder' 'facial dysmorphism-immunodeficiency-livedo-short stature syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014052 congenital myasthenic syndrome 8 'congenital myasthenic syndrome 8' SubClassOf 'postsynaptic congenital myasthenic syndrome' 'congenital myasthenic syndrome 8' SubClassOf 'postsynaptic congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_0014056 melanoma, cutaneous malignant, susceptibility to, 9 'melanoma, cutaneous malignant, susceptibility to, 9' SubClassOf 'glioma susceptibility' 'melanoma, cutaneous malignant, susceptibility to, 9' SubClassOf 'glioma susceptibility' http://purl.obolibrary.org/obo/MONDO_0014070 oculocutaneous albinism type 7 'oculocutaneous albinism type 7' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 7' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0014069 syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome 'syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome' SubClassOf 'congenital limb malformation' 'syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0014062 mitochondrial DNA deletion syndrome with progressive myopathy 'mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'mitochondrial DNA deletion syndrome with progressive myopathy' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014061 Steel syndrome 'Steel syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Steel syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014060 progressive retinal dystrophy due to retinol transport defect 'progressive retinal dystrophy due to retinol transport defect' SubClassOf 'inherited retinal dystrophy' 'progressive retinal dystrophy due to retinol transport defect' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome 'short ulna-dysmorphism-hypotonia-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'short ulna-dysmorphism-hypotonia-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014081 severe combined immunodeficiency due to CARD11 deficiency 'severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' 'severe combined immunodeficiency due to CARD11 deficiency' SubClassOf 'T+ B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014080 osteosclerotic metaphyseal dysplasia 'osteosclerotic metaphyseal dysplasia' SubClassOf 'osteopetrosis' 'osteosclerotic metaphyseal dysplasia' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0014074 Charcot-Marie-Tooth disease dominant intermediate F 'Charcot-Marie-Tooth disease dominant intermediate F' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease dominant intermediate F' SubClassOf 'autosomal dominant intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0014073 dilated cardiomyopathy 1II 'dilated cardiomyopathy 1II' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1II' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0014072 D,L-2-hydroxyglutaric aciduria 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0014078 platelet-type bleeding disorder 15 'platelet-type bleeding disorder 15' SubClassOf 'autosomal dominant macrothrombocytopenia' 'platelet-type bleeding disorder 15' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 15' SubClassOf 'autosomal dominant macrothrombocytopenia' 'platelet-type bleeding disorder 15' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0014077 cobblestone lissencephaly without muscular or ocular involvement 'cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'cobblestone lissencephaly' 'cobblestone lissencephaly without muscular or ocular involvement' SubClassOf 'cobblestone lissencephaly' http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 'dyskeratosis congenita, autosomal recessive 5' SubClassOf 'dyskeratosis congenita and related telomere biology disorder' 'dyskeratosis congenita, autosomal recessive 5' SubClassOf 'dyskeratosis congenita and related telomere biology disorder' http://purl.obolibrary.org/obo/MONDO_0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4B 'mitochondrial complex V (ATP synthase) deficiency nuclear type 4B' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency nuclear type 4B' SubClassOf 'mitochondrial complex deficiency' http://purl.obolibrary.org/obo/MONDO_0014090 polydactyly, postaxial, type A6 'polydactyly, postaxial, type A6' SubClassOf 'postaxial polydactyly type A' 'polydactyly, postaxial, type A6' SubClassOf 'postaxial polydactyly type A' http://purl.obolibrary.org/obo/MONDO_0014083 agammaglobulinemia 7, autosomal recessive 'agammaglobulinemia 7, autosomal recessive' SubClassOf 'autosomal agammaglobulinemia' 'agammaglobulinemia 7, autosomal recessive' SubClassOf 'autosomal agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome 'cryptosporidiosis-chronic cholangitis-liver disease syndrome' SubClassOf 'immunodeficiency disease' 'cryptosporidiosis-chronic cholangitis-liver disease syndrome' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 'corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf 'superficial corneal dystrophy' 'corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf 'superficial corneal dystrophy' 'corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 'microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014095 dilated cardiomyopathy 1JJ 'dilated cardiomyopathy 1JJ' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1JJ' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0014094 severe congenital hypochromic anemia with ringed sideroblasts 'severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'inherited sideroblastic anemia' 'severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'anemia, hypochromic microcytic with iron overload' 'severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'inherited sideroblastic anemia' 'severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'anemia, hypochromic microcytic with iron overload' http://purl.obolibrary.org/obo/MONDO_0014098 CIDEC-related familial partial lipodystrophy 'CIDEC-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'CIDEC-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0014097 congenital short bowel syndrome 'congenital short bowel syndrome' SubClassOf 'small intestine disorder' 'congenital short bowel syndrome' SubClassOf 'disorder of development or morphogenesis' 'congenital short bowel syndrome' SubClassOf 'small intestine disorder' 'congenital short bowel syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_0007940 chronic venous insufficiency 'chronic venous insufficiency' SubClassOf 'venous insufficiency' 'chronic venous insufficiency' SubClassOf 'venous insufficiency' http://purl.obolibrary.org/obo/MONDO_0004700 parotid gland cancer 'parotid gland cancer' SubClassOf 'parotid neoplasm' 'parotid gland cancer' SubClassOf 'parotid neoplasm' http://purl.obolibrary.org/obo/MONDO_0004703 bladder carcinoma in situ 'bladder carcinoma in situ' SubClassOf 'Bladder Flat Intraepithelial Lesion' 'bladder carcinoma in situ' SubClassOf 'non-invasive bladder urothelial carcinoma' 'bladder carcinoma in situ' SubClassOf 'in situ carcinoma' 'bladder carcinoma in situ' SubClassOf 'Bladder Flat Intraepithelial Lesion' 'bladder carcinoma in situ' SubClassOf 'non-invasive bladder urothelial carcinoma' 'bladder carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004702 uterine cervix leukoplakia 'uterine cervix leukoplakia' SubClassOf 'cervix disorder' 'uterine cervix leukoplakia' SubClassOf 'cervix disorder' http://purl.obolibrary.org/obo/MONDO_0004708 esophagus carcinoma in situ 'esophagus carcinoma in situ' SubClassOf 'in situ carcinoma' 'esophagus carcinoma in situ' SubClassOf 'esophageal carcinoma' 'esophagus carcinoma in situ' SubClassOf 'in situ carcinoma' 'esophagus carcinoma in situ' SubClassOf 'esophageal carcinoma' http://purl.obolibrary.org/obo/MONDO_0004705 liver solitary fibrous tumor 'liver solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' 'liver solitary fibrous tumor' SubClassOf 'fibroma' 'liver solitary fibrous tumor' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'liver solitary fibrous tumor' SubClassOf 'solitary fibrous tumor' 'liver solitary fibrous tumor' SubClassOf 'fibroma' 'liver solitary fibrous tumor' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0004707 anal canal carcinoma in situ 'anal canal carcinoma in situ' SubClassOf 'anal canal carcinoma' 'anal canal carcinoma in situ' SubClassOf 'anal canal carcinoma' http://purl.obolibrary.org/obo/MONDO_0004712 herpes simplex dermatitis 'herpes simplex dermatitis' SubClassOf 'skin infection' 'herpes simplex dermatitis' SubClassOf 'Herpes simplex infection' 'herpes simplex dermatitis' SubClassOf 'skin infection' 'herpes simplex dermatitis' SubClassOf 'Herpes simplex infection' http://purl.obolibrary.org/obo/MONDO_0004710 uterus carcinoma in situ 'uterus carcinoma in situ' SubClassOf 'in situ carcinoma' 'uterus carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004716 stomach carcinoma in situ 'stomach carcinoma in situ' SubClassOf 'in situ carcinoma' 'stomach carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004715 liver carcinoma in situ 'liver carcinoma in situ' SubClassOf 'in situ carcinoma' 'liver carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004723 liver leiomyoma 'liver leiomyoma' SubClassOf 'hepatobiliary benign neoplasm' 'liver leiomyoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'liver leiomyoma' SubClassOf 'leiomyoma' 'liver leiomyoma' SubClassOf 'hepatobiliary benign neoplasm' 'liver leiomyoma' SubClassOf 'leiomyoma' 'liver leiomyoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0004724 submandibular gland cancer 'submandibular gland cancer' SubClassOf 'submandibular gland neoplasm' 'submandibular gland cancer' SubClassOf 'Major Salivary Gland Carcinoma' 'submandibular gland cancer' SubClassOf 'submandibular gland neoplasm' 'submandibular gland cancer' SubClassOf 'Major Salivary Gland Carcinoma' http://purl.obolibrary.org/obo/MONDO_0004727 vestibule of mouth cancer 'vestibule of mouth cancer' SubClassOf 'oral cavity cancer' 'vestibule of mouth cancer' SubClassOf 'oral cavity cancer' http://purl.obolibrary.org/obo/MONDO_0004726 liver inflammatory myofibroblastic tumor 'liver inflammatory myofibroblastic tumor' EquivalentTo 'inflammatory myofibroblastic tumor' and ('disease has location' some 'liver') 'liver inflammatory myofibroblastic tumor' SubClassOf 'inflammatory myofibroblastic tumor' 'liver inflammatory myofibroblastic tumor' EquivalentTo 'inflammatory myofibroblastic tumor' and ('disease has location' some 'liver') 'liver inflammatory myofibroblastic tumor' SubClassOf 'inflammatory myofibroblastic tumor' http://purl.obolibrary.org/obo/MONDO_0004736 inborn disorder of amino acid metabolism 'inborn disorder of amino acid metabolism' SubClassOf 'inborn errors of metabolism' 'inborn disorder of amino acid metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0004730 speech disorder 'speech disorder' SubClassOf 'communication disorder' 'speech disorder' SubClassOf 'communication disorder' http://purl.obolibrary.org/obo/MONDO_0004732 kidney carcinoma in situ 'kidney carcinoma in situ' SubClassOf 'in situ carcinoma' 'kidney carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004731 central sleep apnea syndrome 'central sleep apnea syndrome' SubClassOf 'sleep apnea' 'central sleep apnea syndrome' SubClassOf 'syndromic disease' 'central sleep apnea syndrome' SubClassOf 'sleep apnea' 'central sleep apnea syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0004739 urea cycle disorder 'urea cycle disorder' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'urea cycle disorder' SubClassOf 'inborn disorder of amino acid metabolism' 'urea cycle disorder' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'urea cycle disorder' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0004746 myopathy of extraocular muscle 'myopathy of extraocular muscle' SubClassOf 'myopathy' 'myopathy of extraocular muscle' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0004741 tyrosinemia 'tyrosinemia' SubClassOf 'disorder of tyrosine metabolism' 'tyrosinemia' SubClassOf 'disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0004743 hyperhomocysteinemia 'hyperhomocysteinemia' SubClassOf 'homocystinuria' 'hyperhomocysteinemia' SubClassOf 'homocystinuria' http://purl.obolibrary.org/obo/MONDO_0004749 myocardium cancer 'myocardium cancer' SubClassOf 'neoplasm of myocardium' 'myocardium cancer' SubClassOf 'heart cancer' 'myocardium cancer' SubClassOf 'neoplasm of myocardium' 'myocardium cancer' SubClassOf 'heart cancer' http://purl.obolibrary.org/obo/MONDO_0004748 lip disorder 'lip disorder' SubClassOf 'mouth disease' 'lip disorder' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0004756 nasal cavity neoplasm 'nasal cavity neoplasm' SubClassOf 'nasal cavity disorder' 'nasal cavity neoplasm' SubClassOf 'head and neck neoplasia' 'nasal cavity neoplasm' SubClassOf 'nasal cavity disorder' 'nasal cavity neoplasm' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0004757 chronic ethmoidal sinusitis 'chronic ethmoidal sinusitis' SubClassOf 'ethmoid sinusitis' 'chronic ethmoidal sinusitis' SubClassOf 'chronic rhinosinusitis' 'chronic ethmoidal sinusitis' SubClassOf 'ethmoid sinusitis' 'chronic ethmoidal sinusitis' SubClassOf 'chronic rhinosinusitis' http://purl.obolibrary.org/obo/MONDO_0004751 disease of orbital part of eye adnexa 'disease of orbital part of eye adnexa' SubClassOf 'eye adnexa disease' 'disease of orbital part of eye adnexa' SubClassOf 'eye adnexa disease' http://purl.obolibrary.org/obo/MONDO_0004750 language disorder 'language disorder' SubClassOf 'communication disorder' 'language disorder' SubClassOf 'communication disorder' http://www.ebi.ac.uk/efo/EFO_0003083 pleomorphic liposarcoma 'pleomorphic liposarcoma' SubClassOf 'liposarcoma' 'pleomorphic liposarcoma' SubClassOf 'liposarcoma' http://www.ebi.ac.uk/efo/EFO_0003085 dedifferentiated liposarcoma 'dedifferentiated liposarcoma' SubClassOf 'liposarcoma' 'dedifferentiated liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0004526 mixed endometrial stromal and smooth muscle tumor 'mixed endometrial stromal and smooth muscle tumor' SubClassOf 'Soft Tissue Neoplasm' 'mixed endometrial stromal and smooth muscle tumor' SubClassOf 'corpus uteri neoplasm' 'mixed endometrial stromal and smooth muscle tumor' SubClassOf 'Soft Tissue Neoplasm' 'mixed endometrial stromal and smooth muscle tumor' SubClassOf 'corpus uteri neoplasm' http://purl.obolibrary.org/obo/MONDO_0004521 adult epithelioid sarcoma 'adult epithelioid sarcoma' SubClassOf 'epithelioid sarcoma' 'adult epithelioid sarcoma' SubClassOf 'epithelioid sarcoma' http://www.ebi.ac.uk/efo/EFO_0003086 kidney disease 'kidney disease' SubClassOf 'urinary system disease' 'kidney disease' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0004528 lymph node palisaded myofibroblastoma 'lymph node palisaded myofibroblastoma' EquivalentTo 'myofibroblastoma' and ('disease has location' some 'inguinal lymph node') 'lymph node palisaded myofibroblastoma' EquivalentTo 'myofibroblastoma' and ('disease has location' some 'inguinal lymph node') http://purl.obolibrary.org/obo/MONDO_0004535 childhood choriocarcinoma of the ovary 'childhood choriocarcinoma of the ovary' SubClassOf 'non-gestational ovarian choriocarcinoma' 'childhood choriocarcinoma of the ovary' SubClassOf 'non-gestational ovarian choriocarcinoma' http://www.ebi.ac.uk/efo/EFO_0003073 asymptomatic myeloma 'asymptomatic myeloma' SubClassOf 'multiple myeloma' 'asymptomatic myeloma' SubClassOf 'multiple myeloma' http://purl.obolibrary.org/obo/MONDO_0004532 auditory system cancer 'auditory system cancer' SubClassOf 'sensory system cancer' 'auditory system cancer' SubClassOf 'auditory system disease' 'auditory system cancer' SubClassOf 'sensory system cancer' 'auditory system cancer' SubClassOf 'auditory system disease' http://www.ebi.ac.uk/efo/EFO_0003075 xanthoma 'xanthoma' SubClassOf 'metabolic disease' 'xanthoma' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0004534 microglandular adenosis of breast 'microglandular adenosis of breast' SubClassOf 'breast adenosis' 'microglandular adenosis of breast' SubClassOf 'breast adenosis' http://purl.obolibrary.org/obo/MONDO_0004548 adult type testicular granulosa cell tumor 'adult type testicular granulosa cell tumor' SubClassOf 'testicular granulosa cell tumor' 'adult type testicular granulosa cell tumor' SubClassOf 'testicular granulosa cell tumor' http://purl.obolibrary.org/obo/MONDO_0004545 adult malignant schwannoma 'adult malignant schwannoma' SubClassOf 'malignant peripheral nerve sheath tumor' 'adult malignant schwannoma' SubClassOf 'malignant peripheral nerve sheath tumor' http://www.ebi.ac.uk/efo/EFO_0003094 ganglioglioma 'ganglioglioma' SubClassOf 'mixed neuronal-glial tumor' 'ganglioglioma' SubClassOf 'mixed neuronal-glial tumor' http://purl.obolibrary.org/obo/MONDO_0004557 congenital fibrosarcoma 'congenital fibrosarcoma' SubClassOf 'pediatric fibrosarcoma' 'congenital fibrosarcoma' SubClassOf 'conventional fibrosarcoma' 'congenital fibrosarcoma' SubClassOf 'conventional fibrosarcoma' 'congenital fibrosarcoma' SubClassOf 'pediatric fibrosarcoma' http://www.ebi.ac.uk/efo/EFO_0003096 Pick disease 'Pick disease' SubClassOf 'frontotemporal dementia' 'Pick disease' SubClassOf 'disease has location' some 'temporal lobe' 'Pick disease' SubClassOf 'disease has location' some 'frontal cortex' 'Pick disease' SubClassOf 'frontotemporal dementia' 'Pick disease' SubClassOf 'disease has location' some 'temporal lobe' 'Pick disease' SubClassOf 'disease has location' some 'frontal cortex' http://www.ebi.ac.uk/efo/EFO_0003095 non-alcoholic fatty liver disease 'non-alcoholic fatty liver disease' SubClassOf 'fatty liver disease' 'non-alcoholic fatty liver disease' SubClassOf 'fatty liver disease' http://purl.obolibrary.org/obo/MONDO_0004554 childhood kidney angiomyolipoma 'childhood kidney angiomyolipoma' SubClassOf 'kidney angiomyolipoma' 'childhood kidney angiomyolipoma' SubClassOf 'kidney angiomyolipoma' http://www.ebi.ac.uk/efo/EFO_0003097 empyema 'empyema' SubClassOf 'bacterial disease' 'empyema' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0004555 kidney angiomyolipoma 'kidney angiomyolipoma' SubClassOf 'kidney benign neoplasm' 'kidney angiomyolipoma' SubClassOf 'angiomyolipoma' 'kidney angiomyolipoma' SubClassOf 'kidney benign neoplasm' 'kidney angiomyolipoma' SubClassOf 'angiomyolipoma' http://www.ebi.ac.uk/efo/EFO_0003099 Cushing syndrome 'Cushing syndrome' SubClassOf 'syndromic disease' 'Cushing syndrome' SubClassOf 'adrenal gland disease' 'Cushing syndrome' SubClassOf 'syndromic disease' 'Cushing syndrome' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0004550 malignant cornea melanoma 'malignant cornea melanoma' SubClassOf 'cornea cancer' 'malignant cornea melanoma' SubClassOf 'Ocular Melanoma' 'malignant cornea melanoma' SubClassOf 'cornea cancer' 'malignant cornea melanoma' SubClassOf 'Ocular Melanoma' http://purl.obolibrary.org/obo/MONDO_0004569 brachial plexus neuropathy from injury 'brachial plexus neuropathy from injury' SubClassOf 'brachial plexus neuropathy' 'brachial plexus neuropathy from injury' SubClassOf 'brachial plexus neuropathy' http://purl.obolibrary.org/obo/MONDO_0004565 intestinal obstruction 'intestinal obstruction' SubClassOf 'intestinal disease' 'intestinal obstruction' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0004567 ileus 'ileus' SubClassOf 'intestinal obstruction' 'ileus' SubClassOf 'intestinal obstruction' http://purl.obolibrary.org/obo/MONDO_0004566 postgastrectomy syndrome 'postgastrectomy syndrome' SubClassOf 'functional gastric disease' 'postgastrectomy syndrome' SubClassOf 'intestinal disease' 'postgastrectomy syndrome' SubClassOf 'functional gastric disease' 'postgastrectomy syndrome' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0004561 retinal melanoma 'retinal melanoma' SubClassOf 'Ocular Melanoma' 'retinal melanoma' SubClassOf 'retinal cancer' 'retinal melanoma' SubClassOf 'Ocular Melanoma' 'retinal melanoma' SubClassOf 'retinal cancer' http://purl.obolibrary.org/obo/MONDO_0004579 retinoschisis 'retinoschisis' SubClassOf 'retinal degeneration' 'retinoschisis' SubClassOf 'retinal degeneration' http://purl.obolibrary.org/obo/MONDO_0004577 corneal ulcer 'corneal ulcer' SubClassOf 'keratitis' 'corneal ulcer' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0004571 intestinal impaction 'intestinal impaction' SubClassOf 'intestinal obstruction' 'intestinal impaction' SubClassOf 'intestinal obstruction' http://purl.obolibrary.org/obo/MONDO_0004573 ariboflavinosis 'ariboflavinosis' SubClassOf 'nutritional deficiency disease' 'ariboflavinosis' SubClassOf 'nutritional deficiency disease' http://purl.obolibrary.org/obo/MONDO_0004587 hereditary night blindness 'hereditary night blindness' SubClassOf 'night blindness' 'hereditary night blindness' SubClassOf 'night blindness' http://purl.obolibrary.org/obo/MONDO_0004586 rheumatoid lung disease 'rheumatoid lung disease' SubClassOf 'type II hypersensitivity reaction disease' 'rheumatoid lung disease' SubClassOf 'lung disease' 'rheumatoid lung disease' SubClassOf 'type II hypersensitivity reaction disease' 'rheumatoid lung disease' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/MONDO_0004588 night blindness 'night blindness' SubClassOf 'retinopathy' 'night blindness' SubClassOf 'blindness (disorder)' 'night blindness' SubClassOf 'retinopathy' 'night blindness' SubClassOf 'blindness (disorder)' http://purl.obolibrary.org/obo/MONDO_0004583 transient retinal arterial occlusion 'transient retinal arterial occlusion' SubClassOf 'retinal artery occlusion' 'transient retinal arterial occlusion' SubClassOf 'retinal artery occlusion' http://purl.obolibrary.org/obo/MONDO_0004582 rheumatic myocarditis 'rheumatic myocarditis' SubClassOf 'rheumatic heart disease' 'rheumatic myocarditis' SubClassOf 'rheumatic heart disease' http://purl.obolibrary.org/obo/MONDO_0004580 retinal degeneration 'retinal degeneration' SubClassOf 'retinopathy' 'retinal degeneration' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0004598 acute cor pulmonale 'acute cor pulmonale' SubClassOf 'cor pulmonale' 'acute cor pulmonale' SubClassOf 'cor pulmonale' http://purl.obolibrary.org/obo/MONDO_0004593 Bartholin duct cyst 'Bartholin duct cyst' SubClassOf 'female reproductive system disease' 'Bartholin duct cyst' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0004596 cor pulmonale 'cor pulmonale' SubClassOf 'congestive heart failure' 'cor pulmonale' SubClassOf 'congestive heart failure' http://www.ebi.ac.uk/efo/EFO_0003025 acute megakaryoblastic leukaemia 'acute megakaryoblastic leukaemia' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute megakaryoblastic leukaemia' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0003027 acute myeloblastic leukemia without maturation 'acute myeloblastic leukemia without maturation' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute myeloblastic leukemia without maturation' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0003026 minimally differentiated acute myeloblastic leukemia 'minimally differentiated acute myeloblastic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' 'minimally differentiated acute myeloblastic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0003029 acute basophilic leukemia 'acute basophilic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute basophilic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0003028 acute myeloblastic leukemia with maturation 'acute myeloblastic leukemia with maturation' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute myeloblastic leukemia with maturation' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0003016 collecting duct carcinoma 'collecting duct carcinoma' SubClassOf 'renal cell carcinoma' 'collecting duct carcinoma' SubClassOf 'renal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0003017 transitional cell carcinoma of kidney 'transitional cell carcinoma of kidney' SubClassOf 'renal pelvis carcinoma' 'transitional cell carcinoma of kidney' SubClassOf 'renal pelvis carcinoma' http://purl.obolibrary.org/obo/MONDO_0004603 collagenopathy 'collagenopathy' SubClassOf 'connective tissue disease' 'collagenopathy' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/MONDO_0004600 monocytic leukemia 'monocytic leukemia' SubClassOf 'leukemia' 'monocytic leukemia' SubClassOf 'leukemia' http://www.ebi.ac.uk/efo/EFO_0003047 hepatitis C virus infection 'hepatitis C virus infection' SubClassOf 'disease has primary infectious agent' some 'Hepatitis C virus' 'hepatitis C virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis C virus infection' SubClassOf 'viral human hepatitis infection' http://www.ebi.ac.uk/efo/EFO_0003030 abscess 'abscess' SubClassOf 'infectious disease' 'abscess' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_0004614 chronic monocytic leukemia 'chronic monocytic leukemia' SubClassOf 'monocytic leukemia' 'chronic monocytic leukemia' SubClassOf 'monocytic leukemia' http://www.ebi.ac.uk/efo/EFO_0003033 bacteriemia 'bacteriemia' SubClassOf 'bacterial disease' 'bacteriemia' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0004617 recurrent hypersomnia 'recurrent hypersomnia' SubClassOf 'sleep-wake disorder' 'recurrent hypersomnia' SubClassOf 'sleep-wake disorder' http://purl.obolibrary.org/obo/MONDO_0004616 herpetic whitlow 'herpetic whitlow' SubClassOf 'Herpes simplex infection' 'herpetic whitlow' SubClassOf 'paronychia' 'herpetic whitlow' SubClassOf 'Herpes simplex infection' 'herpetic whitlow' SubClassOf 'paronychia' http://purl.obolibrary.org/obo/MONDO_0004618 diplegia of upper limb 'diplegia of upper limb' SubClassOf 'nervous system disease' 'diplegia of upper limb' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0003060 non-small cell lung carcinoma 'non-small cell lung carcinoma' SubClassOf 'lung carcinoma' 'non-small cell lung carcinoma' SubClassOf 'lung carcinoma' http://www.ebi.ac.uk/efo/EFO_0003063 polymyositis 'polymyositis' SubClassOf 'acquired idiopathic inflammatory myopathy' 'polymyositis' SubClassOf 'acquired idiopathic inflammatory myopathy' http://purl.obolibrary.org/obo/MONDO_0004622 chronic intestinal vascular insufficiency 'chronic intestinal vascular insufficiency' SubClassOf 'intestinal disease' 'chronic intestinal vascular insufficiency' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0004628 gastroduodenitis 'gastroduodenitis' SubClassOf 'gastritis' 'gastroduodenitis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0004627 duodenitis 'duodenitis' SubClassOf 'duodenal disorder' 'duodenitis' SubClassOf 'duodenal disorder' http://www.ebi.ac.uk/efo/EFO_0003050 large cell lung carcinoma 'large cell lung carcinoma' SubClassOf 'non-small cell lung carcinoma' 'large cell lung carcinoma' SubClassOf 'large cell carcinoma' 'large cell lung carcinoma' SubClassOf 'non-small cell lung carcinoma' 'large cell lung carcinoma' SubClassOf 'large cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004634 vein disorder 'vein disorder' SubClassOf 'vascular disease' 'vein disorder' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0004636 lip carcinoma in situ 'lip carcinoma in situ' SubClassOf 'carcinoma of lip' 'lip carcinoma in situ' SubClassOf 'carcinoma of lip' http://purl.obolibrary.org/obo/MONDO_0004631 tongue cancer 'tongue cancer' SubClassOf 'tongue neoplasm' 'tongue cancer' SubClassOf 'oral cavity cancer' 'tongue cancer' SubClassOf 'tongue neoplasm' 'tongue cancer' SubClassOf 'oral cavity cancer' http://purl.obolibrary.org/obo/MONDO_0004630 substance-induced psychosis 'substance-induced psychosis' SubClassOf 'psychosis' 'substance-induced psychosis' SubClassOf 'psychosis' http://purl.obolibrary.org/obo/MONDO_0004404 refractory precursor T-lymphoblastic lymphoma/leukemia 'refractory precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'precursor T-lymphoblastic lymphoma/leukemia' 'refractory precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'refractory hematologic cancer' 'refractory precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'precursor T-lymphoblastic lymphoma/leukemia' 'refractory precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'refractory hematologic cancer' http://purl.obolibrary.org/obo/MONDO_0004403 childhood precursor T-lymphoblastic lymphoma/leukemia 'childhood precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'precursor T-lymphoblastic lymphoma/leukemia' 'childhood precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'childhood cancer' 'childhood precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'precursor T-lymphoblastic lymphoma/leukemia' 'childhood precursor T-lymphoblastic lymphoma/leukemia' SubClassOf 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0004406 adult central nervous system mixed germ cell tumor 'adult central nervous system mixed germ cell tumor' SubClassOf 'adult central nervous system germ cell tumor' 'adult central nervous system mixed germ cell tumor' SubClassOf 'mixed germ cell tumor of central nervous system' 'adult central nervous system mixed germ cell tumor' SubClassOf 'adult central nervous system germ cell tumor' 'adult central nervous system mixed germ cell tumor' SubClassOf 'mixed germ cell tumor of central nervous system' http://purl.obolibrary.org/obo/MONDO_0004401 testis refractory cancer 'testis refractory cancer' SubClassOf 'malignant testicular germ cell tumor' 'testis refractory cancer' SubClassOf 'malignant testicular germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0004411 duodenal gastrin-producing neuroendocrine tumor 'duodenal gastrin-producing neuroendocrine tumor' SubClassOf 'gastrin-producing neuroendocrine tumor' 'duodenal gastrin-producing neuroendocrine tumor' SubClassOf 'duodenal neuroendocrine tumor, well differentiated, low or intermediate grade' 'duodenal gastrin-producing neuroendocrine tumor' SubClassOf 'gastrin-producing neuroendocrine tumor' 'duodenal gastrin-producing neuroendocrine tumor' SubClassOf 'duodenal neuroendocrine tumor, well differentiated, low or intermediate grade' http://purl.obolibrary.org/obo/MONDO_0004410 sarcomatoid penile squamous cell carcinoma 'sarcomatoid penile squamous cell carcinoma' SubClassOf 'sarcomatoid squamous cell carcinoma' 'sarcomatoid penile squamous cell carcinoma' SubClassOf 'squamous cell carcinoma of penis' 'sarcomatoid penile squamous cell carcinoma' SubClassOf 'sarcomatoid squamous cell carcinoma' 'sarcomatoid penile squamous cell carcinoma' SubClassOf 'squamous cell carcinoma of penis' http://purl.obolibrary.org/obo/MONDO_0004427 supraglottis neoplasm 'supraglottis neoplasm' SubClassOf 'laryngeal neoplasm' 'supraglottis neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0004423 central nervous system extraskeletal osteosarcoma 'central nervous system extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'central nervous system extraskeletal osteosarcoma' SubClassOf 'central nervous system sarcoma' 'central nervous system extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'central nervous system extraskeletal osteosarcoma' SubClassOf 'central nervous system sarcoma' http://purl.obolibrary.org/obo/MONDO_0004429 skin meningioma 'skin meningioma' SubClassOf 'skin cancer' 'skin meningioma' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/MONDO_0004436 ovarian myxoid liposarcoma 'ovarian myxoid liposarcoma' SubClassOf 'myxoid liposarcoma' 'ovarian myxoid liposarcoma' SubClassOf 'liposarcoma of the ovary' 'ovarian myxoid liposarcoma' SubClassOf 'myxoid liposarcoma' 'ovarian myxoid liposarcoma' SubClassOf 'liposarcoma of the ovary' http://purl.obolibrary.org/obo/MONDO_0004433 papillary carcinoma of the penis 'papillary carcinoma of the penis' SubClassOf 'squamous cell carcinoma of penis' 'papillary carcinoma of the penis' SubClassOf 'papillary squamous carcinoma' 'papillary carcinoma of the penis' SubClassOf 'squamous cell carcinoma of penis' 'papillary carcinoma of the penis' SubClassOf 'papillary squamous carcinoma' http://purl.obolibrary.org/obo/MONDO_0004435 liver fibrosarcoma 'liver fibrosarcoma' SubClassOf 'liver sarcoma' 'liver fibrosarcoma' SubClassOf 'fibrosarcoma' 'liver fibrosarcoma' SubClassOf 'liver sarcoma' 'liver fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0004440 pineal region meningioma 'pineal region meningioma' SubClassOf 'pineal body neoplasm' 'pineal region meningioma' SubClassOf 'pineal body neoplasm' http://purl.obolibrary.org/obo/MONDO_0004441 childhood ovarian embryonal carcinoma 'childhood ovarian embryonal carcinoma' SubClassOf 'Ovarian Embryonal Carcinoma' 'childhood ovarian embryonal carcinoma' SubClassOf 'Ovarian Embryonal Carcinoma' http://purl.obolibrary.org/obo/MONDO_0004459 bladder hepatoid adenocarcinoma 'bladder hepatoid adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder hepatoid adenocarcinoma' SubClassOf 'Hepatoid Adenocarcinoma' 'bladder hepatoid adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder hepatoid adenocarcinoma' SubClassOf 'Hepatoid Adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004458 bladder mixed adenocarcinoma 'bladder mixed adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder mixed adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004457 maxillary sinus Schneiderian papilloma 'maxillary sinus Schneiderian papilloma' SubClassOf 'benign neoplasm of maxillary sinus' 'maxillary sinus Schneiderian papilloma' SubClassOf 'Paranasal Sinus Schneiderian Papilloma' 'maxillary sinus Schneiderian papilloma' SubClassOf 'benign neoplasm of maxillary sinus' 'maxillary sinus Schneiderian papilloma' SubClassOf 'Paranasal Sinus Schneiderian Papilloma' http://purl.obolibrary.org/obo/MONDO_0004456 cocaine abuse 'cocaine abuse' SubClassOf 'substance abuse' 'cocaine abuse' SubClassOf 'substance abuse' http://purl.obolibrary.org/obo/MONDO_0004450 carotid artery occlusion 'carotid artery occlusion' SubClassOf 'occlusion precerebral artery' 'carotid artery occlusion' SubClassOf 'occlusion precerebral artery' http://purl.obolibrary.org/obo/MONDO_0004452 childhood central nervous system germinoma 'childhood central nervous system germinoma' SubClassOf 'central nervous system germinoma' 'childhood central nervous system germinoma' SubClassOf 'central nervous system germinoma' http://purl.obolibrary.org/obo/MONDO_0004468 anal canal Paget disease 'anal canal Paget disease' SubClassOf 'anal Paget disease' 'anal canal Paget disease' SubClassOf 'anal canal adenocarcinoma' 'anal canal Paget disease' SubClassOf 'anal Paget disease' 'anal canal Paget disease' SubClassOf 'anal canal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004462 extrahepatic bile duct cystadenoma 'extrahepatic bile duct cystadenoma' SubClassOf 'bile duct cystadenoma' 'extrahepatic bile duct cystadenoma' SubClassOf 'extrahepatic bile duct adenoma' 'extrahepatic bile duct cystadenoma' SubClassOf 'bile duct cystadenoma' 'extrahepatic bile duct cystadenoma' SubClassOf 'extrahepatic bile duct adenoma' http://purl.obolibrary.org/obo/MONDO_0004461 vaginal tubulovillous adenoma 'vaginal tubulovillous adenoma' SubClassOf 'tubulovillous adenoma' 'vaginal tubulovillous adenoma' SubClassOf 'vaginal adenoma' 'vaginal tubulovillous adenoma' SubClassOf 'tubulovillous adenoma' 'vaginal tubulovillous adenoma' SubClassOf 'vaginal adenoma' http://purl.obolibrary.org/obo/MONDO_0004477 adrenal gland ganglioneuroblastoma 'adrenal gland ganglioneuroblastoma' SubClassOf 'Adrenal Gland Neuroblastoma' 'adrenal gland ganglioneuroblastoma' SubClassOf 'peripheral ganglioneuroblastoma' 'adrenal gland ganglioneuroblastoma' SubClassOf 'Adrenal Gland Neuroblastoma' 'adrenal gland ganglioneuroblastoma' SubClassOf 'peripheral ganglioneuroblastoma' http://purl.obolibrary.org/obo/MONDO_0004479 malignant childhood germ cell neoplasm 'malignant childhood germ cell neoplasm' SubClassOf 'childhood germ cell tumor' 'malignant childhood germ cell neoplasm' SubClassOf 'Malignant Germ Cell Tumor' 'malignant childhood germ cell neoplasm' SubClassOf 'childhood cancer' 'malignant childhood germ cell neoplasm' EquivalentTo 'Malignant Germ Cell Tumor' and 'childhood cancer' 'malignant childhood germ cell neoplasm' SubClassOf 'childhood germ cell tumor' 'malignant childhood germ cell neoplasm' SubClassOf 'Malignant Germ Cell Tumor' 'malignant childhood germ cell neoplasm' SubClassOf 'childhood cancer' 'malignant childhood germ cell neoplasm' EquivalentTo 'Malignant Germ Cell Tumor' and 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0004474 gallbladder lymphoma 'gallbladder lymphoma' SubClassOf 'gastrointestinal lymphoma' 'gallbladder lymphoma' SubClassOf 'gallbladder cancer' 'gallbladder lymphoma' SubClassOf 'gastrointestinal lymphoma' 'gallbladder lymphoma' SubClassOf 'gallbladder cancer' http://purl.obolibrary.org/obo/MONDO_0004489 fallopian tube gestational choriocarcinoma 'fallopian tube gestational choriocarcinoma' SubClassOf 'gestational choriocarcinoma' 'fallopian tube gestational choriocarcinoma' SubClassOf 'Fallopian Tube Carcinoma' 'fallopian tube gestational choriocarcinoma' SubClassOf 'gestational choriocarcinoma' 'fallopian tube gestational choriocarcinoma' SubClassOf 'Fallopian Tube Carcinoma' http://purl.obolibrary.org/obo/MONDO_0004484 gallbladder melanoma 'gallbladder melanoma' SubClassOf 'gallbladder cancer' 'gallbladder melanoma' SubClassOf 'gallbladder cancer' http://purl.obolibrary.org/obo/MONDO_0004483 thyroid gland oncocytic adenoma 'thyroid gland oncocytic adenoma' SubClassOf 'oxyphilic adenoma' 'thyroid gland oncocytic adenoma' SubClassOf 'follicular thyroid adenoma' 'thyroid gland oncocytic adenoma' SubClassOf 'oxyphilic adenoma' 'thyroid gland oncocytic adenoma' SubClassOf 'follicular thyroid adenoma' http://purl.obolibrary.org/obo/MONDO_0004497 tertiary syphilis 'tertiary syphilis' SubClassOf 'syphilis' 'tertiary syphilis' SubClassOf 'syphilis' http://purl.obolibrary.org/obo/MONDO_0004491 uterine corpus choriocarcinoma 'uterine corpus choriocarcinoma' SubClassOf 'gestational choriocarcinoma' 'uterine corpus choriocarcinoma' SubClassOf 'gestational choriocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004504 penile urethral cancer 'penile urethral cancer' SubClassOf 'male urethral cancer' 'penile urethral cancer' SubClassOf 'male urethral cancer' http://purl.obolibrary.org/obo/MONDO_0004501 fallopian tube cystadenofibroma 'fallopian tube cystadenofibroma' SubClassOf 'cystadenofibroma' 'fallopian tube cystadenofibroma' SubClassOf 'fallopian tube serous adenofibroma' 'fallopian tube cystadenofibroma' SubClassOf 'cystadenofibroma' 'fallopian tube cystadenofibroma' SubClassOf 'fallopian tube serous adenofibroma' http://purl.obolibrary.org/obo/MONDO_0004514 chronic rhinitis 'chronic rhinitis' SubClassOf 'rhinitis' 'chronic rhinitis' SubClassOf 'rhinitis' http://purl.obolibrary.org/obo/MONDO_0004513 adult pleomorphic rhabdomyosarcoma 'adult pleomorphic rhabdomyosarcoma' SubClassOf 'pleomorphic rhabdomyosarcoma' 'adult pleomorphic rhabdomyosarcoma' SubClassOf 'pleomorphic rhabdomyosarcoma' http://purl.obolibrary.org/obo/GO_0090407 organophosphate biosynthetic process 'organophosphate biosynthetic process' SubClassOf 'organic substance biosynthetic process' 'organophosphate biosynthetic process' SubClassOf 'biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0004517 ureter tuberculosis 'ureter tuberculosis' SubClassOf 'urogenital tuberculosis' 'ureter tuberculosis' SubClassOf 'urogenital tuberculosis' http://purl.obolibrary.org/obo/MONDO_0004519 synovial angioma 'synovial angioma' SubClassOf 'hemangioma' 'synovial angioma' SubClassOf 'benign synovial neoplasm' 'synovial angioma' SubClassOf 'hemangioma' 'synovial angioma' SubClassOf 'benign synovial neoplasm' http://purl.obolibrary.org/obo/MONDO_0018924 microphthalmia, Lenz type 'microphthalmia, Lenz type' SubClassOf 'syndromic microphthalmia' 'microphthalmia, Lenz type' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' '22q11.2 deletion syndrome' SubClassOf 'heart disease' '22q11.2 deletion syndrome' SubClassOf 'chromosome 22q deletion' '22q11.2 deletion syndrome' SubClassOf 'immune system disease' '22q11.2 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' '22q11.2 deletion syndrome' SubClassOf 'heart disease' '22q11.2 deletion syndrome' SubClassOf 'chromosome 22q deletion' '22q11.2 deletion syndrome' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0018926 human prion disease 'human prion disease' SubClassOf 'neurodegenerative disease' 'human prion disease' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0018922 cold agglutinin disease 'cold agglutinin disease' SubClassOf 'autoimmune hemolytic anemia, cold type' 'cold agglutinin disease' SubClassOf 'autoimmune hemolytic anemia, cold type' http://purl.obolibrary.org/obo/MONDO_0018921 Meckel syndrome 'Meckel syndrome' SubClassOf 'syndromic disease' 'Meckel syndrome' SubClassOf 'ciliopathy' 'Meckel syndrome' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' 'Meckel syndrome' SubClassOf 'syndromic disease' 'Meckel syndrome' SubClassOf 'ciliopathy' 'Meckel syndrome' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018939 muscle-eye-brain disease 'muscle-eye-brain disease' SubClassOf 'congenital muscular dystrophy' 'muscle-eye-brain disease' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0018938 mucopolysaccharidosis type 4 'mucopolysaccharidosis type 4' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 4' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 4' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 4' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0018937 mucopolysaccharidosis type 3 'mucopolysaccharidosis type 3' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 3' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 3' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 3' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0018931 mucolipidosis type III, alpha/beta 'mucolipidosis type III, alpha/beta' SubClassOf 'GNPTAB-mucolipidosis' 'mucolipidosis type III, alpha/beta' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucolipidosis type III, alpha/beta' SubClassOf 'familial mucolipidosis' 'mucolipidosis type III, alpha/beta' SubClassOf 'GNPTAB-mucolipidosis' 'mucolipidosis type III, alpha/beta' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucolipidosis type III, alpha/beta' SubClassOf 'familial mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0018933 Mazabraud syndrome 'Mazabraud syndrome' SubClassOf 'Soft Tissue Neoplasm' 'Mazabraud syndrome' SubClassOf 'genetic disorder' 'Mazabraud syndrome' SubClassOf 'Soft Tissue Neoplasm' 'Mazabraud syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0004305 parathyroid oncocytic adenoma 'parathyroid oncocytic adenoma' SubClassOf 'parathyroid adenoma' 'parathyroid oncocytic adenoma' SubClassOf 'oxyphilic adenoma' 'parathyroid oncocytic adenoma' SubClassOf 'parathyroid adenoma' 'parathyroid oncocytic adenoma' SubClassOf 'oxyphilic adenoma' http://purl.obolibrary.org/obo/MONDO_0004301 fibrosarcomatous osteosarcoma 'fibrosarcomatous osteosarcoma' SubClassOf 'conventional osteosarcoma' 'fibrosarcomatous osteosarcoma' SubClassOf 'conventional osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0018949 distal myopathy 'distal myopathy' SubClassOf 'muscular dystrophy' 'distal myopathy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0018945 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'neuroacanthocytosis' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'neuroacanthocytosis' http://purl.obolibrary.org/obo/MONDO_0018948 multiminicore myopathy 'multiminicore myopathy' SubClassOf 'qualitative or quantitative defects of selenoprotein N1' 'multiminicore myopathy' SubClassOf 'qualitative or quantitative defects of selenoprotein N1' http://purl.obolibrary.org/obo/MONDO_0018947 centronuclear myopathy 'centronuclear myopathy' SubClassOf 'congenital myopathy' 'centronuclear myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0018944 gestational trophoblastic neoplasm 'gestational trophoblastic neoplasm' SubClassOf 'female reproductive system neoplasm' 'gestational trophoblastic neoplasm' SubClassOf 'pregnancy disorder' 'gestational trophoblastic neoplasm' SubClassOf 'trophoblastic neoplasm' 'gestational trophoblastic neoplasm' SubClassOf 'female reproductive system neoplasm' 'gestational trophoblastic neoplasm' SubClassOf 'pregnancy disorder' 'gestational trophoblastic neoplasm' SubClassOf 'trophoblastic neoplasm' http://purl.obolibrary.org/obo/MONDO_0018943 myofibrillar myopathy 'myofibrillar myopathy' SubClassOf 'congenital structural myopathy' 'myofibrillar myopathy' SubClassOf 'congenital structural myopathy' http://purl.obolibrary.org/obo/MONDO_0018940 congenital myasthenic syndrome 'congenital myasthenic syndrome' SubClassOf 'neuromuscular junction disease' 'congenital myasthenic syndrome' SubClassOf 'syndromic disease' 'congenital myasthenic syndrome' SubClassOf 'neuromuscular junction disease' 'congenital myasthenic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0004308 meningeal sarcoma 'meningeal sarcoma' SubClassOf 'central nervous system sarcoma' 'meningeal sarcoma' SubClassOf 'malignant tumor of meninges' 'meningeal sarcoma' SubClassOf 'central nervous system sarcoma' 'meningeal sarcoma' SubClassOf 'malignant tumor of meninges' http://purl.obolibrary.org/obo/MONDO_0004314 malignant cutaneous granular cell skin tumor 'malignant cutaneous granular cell skin tumor' SubClassOf 'malignant dermis tumor' 'malignant cutaneous granular cell skin tumor' SubClassOf 'cutaneous granular cell tumor' 'malignant cutaneous granular cell skin tumor' SubClassOf 'granular cell cancer' 'malignant cutaneous granular cell skin tumor' SubClassOf 'malignant dermis tumor' 'malignant cutaneous granular cell skin tumor' SubClassOf 'cutaneous granular cell tumor' 'malignant cutaneous granular cell skin tumor' SubClassOf 'granular cell cancer' http://purl.obolibrary.org/obo/MONDO_0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered 'adult embryonal tumor with multilayered rosettes, c19mc-altered' SubClassOf 'ependymoblastoma' 'adult embryonal tumor with multilayered rosettes, c19mc-altered' SubClassOf 'ependymoblastoma' http://purl.obolibrary.org/obo/MONDO_0018956 idiopathic bronchiectasis 'idiopathic bronchiectasis' SubClassOf 'bronchiectasis' 'idiopathic bronchiectasis' SubClassOf 'bronchiectasis' http://purl.obolibrary.org/obo/MONDO_0018959 potassium-aggravated myotonia 'potassium-aggravated myotonia' SubClassOf 'myotonic syndrome' 'potassium-aggravated myotonia' SubClassOf 'myotonic syndrome' http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy 'nemaline myopathy' SubClassOf 'congenital structural myopathy' 'nemaline myopathy' SubClassOf 'congenital structural myopathy' http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina 'parietal foramina' SubClassOf 'skeletal dysplasia' 'parietal foramina' SubClassOf 'neural tube defect' 'parietal foramina' SubClassOf 'skeletal dysplasia' 'parietal foramina' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0018954 Loeys-Dietz syndrome 'Loeys-Dietz syndrome' SubClassOf 'syndromic disease' 'Loeys-Dietz syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Loeys-Dietz syndrome' SubClassOf 'autosomal dominant disease' 'Loeys-Dietz syndrome' SubClassOf 'syndromic disease' 'Loeys-Dietz syndrome' SubClassOf 'Marfan and Marfan-related disorder' 'Loeys-Dietz syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0018951 distal myopathy with vocal cord weakness 'distal myopathy with vocal cord weakness' SubClassOf 'autosomal dominant distal myopathy' 'distal myopathy with vocal cord weakness' SubClassOf 'autosomal dominant distal myopathy' http://purl.obolibrary.org/obo/MONDO_0018950 3-methylcrotonyl-CoA carboxylase deficiency '3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'classic organic aciduria' '3-methylcrotonyl-CoA carboxylase deficiency' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0004328 maxillary sinus adenocarcinoma 'maxillary sinus adenocarcinoma' SubClassOf 'adenocarcinoma' 'maxillary sinus adenocarcinoma' SubClassOf 'maxillary sinus carcinoma' 'maxillary sinus adenocarcinoma' SubClassOf 'adenocarcinoma' 'maxillary sinus adenocarcinoma' SubClassOf 'maxillary sinus carcinoma' http://purl.obolibrary.org/obo/MONDO_0004323 muscular atrophy 'muscular atrophy' SubClassOf 'myopathy' 'muscular atrophy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0004322 non-gestational ovarian choriocarcinoma 'non-gestational ovarian choriocarcinoma' SubClassOf 'ovarian primitive germ cell tumor' 'non-gestational ovarian choriocarcinoma' SubClassOf 'Ovarian Choriocarcinoma' 'non-gestational ovarian choriocarcinoma' SubClassOf 'ovarian primitive germ cell tumor' 'non-gestational ovarian choriocarcinoma' SubClassOf 'Ovarian Choriocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004324 testicular fibroma 'testicular fibroma' SubClassOf 'fibroma' 'testicular fibroma' SubClassOf 'testicular sex cord-stromal neoplasm' 'testicular fibroma' SubClassOf 'fibroma' 'testicular fibroma' SubClassOf 'testicular sex cord-stromal neoplasm' http://purl.obolibrary.org/obo/MONDO_0004321 endometrial mixed adenocarcinoma 'endometrial mixed adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' 'endometrial mixed adenocarcinoma' SubClassOf 'endometrium adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004320 adult infiltrating astrocytic neoplasm 'adult infiltrating astrocytic neoplasm' SubClassOf 'adult astrocytic tumor' 'adult infiltrating astrocytic neoplasm' SubClassOf 'adult astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0018968 iniencephaly 'iniencephaly' SubClassOf 'neural tube defect' 'iniencephaly' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 'short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'isolated growth hormone deficiency type III' 'short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia' SubClassOf 'isolated growth hormone deficiency type III' http://purl.obolibrary.org/obo/MONDO_0018969 craniorachischisis 'craniorachischisis' SubClassOf 'disorder of development or morphogenesis' 'craniorachischisis' SubClassOf 'congenital nervous system disorder' 'craniorachischisis' SubClassOf 'disorder of development or morphogenesis' 'craniorachischisis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria 'homocystinuria without methylmalonic aciduria' SubClassOf 'homocystinuria' 'homocystinuria without methylmalonic aciduria' SubClassOf 'autosomal recessive disease' 'homocystinuria without methylmalonic aciduria' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'homocystinuria without methylmalonic aciduria' SubClassOf 'autosomal recessive disease' 'homocystinuria without methylmalonic aciduria' SubClassOf 'homocystinuria' 'homocystinuria without methylmalonic aciduria' SubClassOf 'inborn disorder of cobalamin metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0018963 hereditary methemoglobinemia 'hereditary methemoglobinemia' SubClassOf 'inherited hemoglobinopathy' 'hereditary methemoglobinemia' SubClassOf 'methemoglobinemia' 'hereditary methemoglobinemia' SubClassOf 'anemia' 'hereditary methemoglobinemia' SubClassOf 'inherited hemoglobinopathy' 'hereditary methemoglobinemia' SubClassOf 'methemoglobinemia' 'hereditary methemoglobinemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome 'Alport syndrome' SubClassOf 'syndromic disease' 'Alport syndrome' SubClassOf 'hereditary nephritis' 'Alport syndrome' SubClassOf 'syndromic disease' 'Alport syndrome' SubClassOf 'hereditary nephritis' http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter 'congenital primary megaureter' SubClassOf 'kidney disease' 'congenital primary megaureter' SubClassOf 'disorder of development or morphogenesis' 'congenital primary megaureter' SubClassOf 'kidney disease' 'congenital primary megaureter' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0018962 common mesentery 'common mesentery' SubClassOf 'digestive system disease' 'common mesentery' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0004338 retinal cell cancer 'retinal cell cancer' SubClassOf 'retinal cancer' 'retinal cell cancer' SubClassOf 'retinal cancer' http://purl.obolibrary.org/obo/MONDO_0004334 non-functional pancreatic neuroendocrine tumor 'non-functional pancreatic neuroendocrine tumor' SubClassOf 'pancreatic neuroendocrine tumor' 'non-functional pancreatic neuroendocrine tumor' SubClassOf 'non-functioning endocrine neoplasm' 'non-functional pancreatic neuroendocrine tumor' SubClassOf 'pancreatic neuroendocrine tumor' 'non-functional pancreatic neuroendocrine tumor' SubClassOf 'non-functioning endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0004333 pancreatic ACTH-producing neuroendocrine tumor 'pancreatic ACTH-producing neuroendocrine tumor' SubClassOf 'functional pancreatic neuroendocrine tumor' 'pancreatic ACTH-producing neuroendocrine tumor' SubClassOf 'functional pancreatic neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0004336 rectal signet ring cell adenocarcinoma 'rectal signet ring cell adenocarcinoma' SubClassOf 'rectal adenocarcinoma' 'rectal signet ring cell adenocarcinoma' SubClassOf 'rectal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004330 leptomeningeal sarcoma 'leptomeningeal sarcoma' SubClassOf 'malignant leptomeningeal tumor' 'leptomeningeal sarcoma' SubClassOf 'meningeal sarcoma' 'leptomeningeal sarcoma' SubClassOf 'malignant leptomeningeal tumor' 'leptomeningeal sarcoma' SubClassOf 'meningeal sarcoma' http://purl.obolibrary.org/obo/MONDO_0004331 bladder urachal adenocarcinoma 'bladder urachal adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder urachal adenocarcinoma' SubClassOf 'bladder urachal carcinoma' 'bladder urachal adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder urachal adenocarcinoma' SubClassOf 'bladder urachal carcinoma' http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 'neurofibromatosis type 1' SubClassOf 'neurocristopathy' 'neurofibromatosis type 1' SubClassOf 'rasopathy' 'neurofibromatosis type 1' SubClassOf 'neurofibromatosis' 'neurofibromatosis type 1' SubClassOf 'neurocristopathy' 'neurofibromatosis type 1' SubClassOf 'rasopathy' 'neurofibromatosis type 1' SubClassOf 'neurofibromatosis' http://purl.obolibrary.org/obo/MONDO_0018971 isolated oxycephaly 'isolated oxycephaly' SubClassOf 'isolated craniosynostosis' 'isolated oxycephaly' SubClassOf 'isolated craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0018973 patterned dystrophy of the retinal pigment epithelium 'patterned dystrophy of the retinal pigment epithelium' SubClassOf 'hereditary macular dystrophy' 'patterned dystrophy of the retinal pigment epithelium' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0004349 retina lymphoma 'retina lymphoma' SubClassOf 'eye lymphoma' 'retina lymphoma' SubClassOf 'retinal cancer' 'retina lymphoma' SubClassOf 'eye lymphoma' 'retina lymphoma' SubClassOf 'retinal cancer' http://purl.obolibrary.org/obo/MONDO_0004348 retinal telangiectasia 'retinal telangiectasia' SubClassOf 'retinal vascular disorder' 'retinal telangiectasia' SubClassOf 'retinal vascular disorder' http://purl.obolibrary.org/obo/MONDO_0004346 signet ring cell intrahepatic cholangiocarcinoma 'signet ring cell intrahepatic cholangiocarcinoma' SubClassOf 'intrahepatic cholangiocarcinoma' 'signet ring cell intrahepatic cholangiocarcinoma' SubClassOf 'intrahepatic cholangiocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004343 pancreatic acinar cell cystadenocarcinoma 'pancreatic acinar cell cystadenocarcinoma' SubClassOf 'pancreatic cystadenocarcinoma' 'pancreatic acinar cell cystadenocarcinoma' SubClassOf 'Pancreatic Acinar Cell Carcinoma' 'pancreatic acinar cell cystadenocarcinoma' SubClassOf 'pancreatic cystadenocarcinoma' 'pancreatic acinar cell cystadenocarcinoma' SubClassOf 'Pancreatic Acinar Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0018988 iridocorneal endothelial syndrome 'iridocorneal endothelial syndrome' SubClassOf 'syndromic disease' 'iridocorneal endothelial syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018982 Niemann-Pick disease type C 'Niemann-Pick disease type C' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type C' SubClassOf 'Niemann-Pick disease' http://purl.obolibrary.org/obo/MONDO_0018983 Tolosa-Hunt syndrome 'Tolosa-Hunt syndrome' SubClassOf 'ocular motility disease' 'Tolosa-Hunt syndrome' SubClassOf 'nuclear oculomotor paralysis' 'Tolosa-Hunt syndrome' SubClassOf 'syndromic disease' 'Tolosa-Hunt syndrome' SubClassOf 'ocular motility disease' 'Tolosa-Hunt syndrome' SubClassOf 'nuclear oculomotor paralysis' 'Tolosa-Hunt syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018980 acrofacial dysostosis, Kennedy-Teebi type 'acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Kennedy-Teebi type' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0043919 radiation pneumonitis 'radiation pneumonitis' SubClassOf 'interstitial lung disease' 'radiation pneumonitis' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0004359 delusional disorder 'delusional disorder' SubClassOf 'psychosis' 'delusional disorder' SubClassOf 'psychosis' http://purl.obolibrary.org/obo/MONDO_0004355 childhood leukemia 'childhood leukemia' SubClassOf 'childhood cancer' 'childhood leukemia' SubClassOf 'leukemia' 'childhood leukemia' SubClassOf 'childhood cancer' 'childhood leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0004357 carcinoma of supraglottis 'carcinoma of supraglottis' SubClassOf 'laryngeal carcinoma' 'carcinoma of supraglottis' SubClassOf 'supraglottis cancer' 'carcinoma of supraglottis' SubClassOf 'laryngeal carcinoma' 'carcinoma of supraglottis' SubClassOf 'supraglottis cancer' http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome 'Noonan syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Noonan syndrome' SubClassOf 'syndromic disease' 'Noonan syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Noonan syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Noonan syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018996 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2' SubClassOf 'hereditary peripheral neuropathy' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2' SubClassOf 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2' SubClassOf 'hereditary peripheral neuropathy' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2' SubClassOf 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' http://purl.obolibrary.org/obo/MONDO_0018999 LCAT deficiency 'LCAT deficiency' SubClassOf 'hypoalphalipoproteinemia' 'LCAT deficiency' SubClassOf 'hypoalphalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0018998 Leber congenital amaurosis 'Leber congenital amaurosis' SubClassOf 'inherited retinal dystrophy' 'Leber congenital amaurosis' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0018993 Charcot-Marie-Tooth disease type 2 'Charcot-Marie-Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0018994 Charcot-Marie-Tooth disease type X 'Charcot-Marie-Tooth disease type X' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type X' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0004363 adult spinal cord glioblastoma 'adult spinal cord glioblastoma' SubClassOf 'adult glioblastoma' 'adult spinal cord glioblastoma' SubClassOf 'adult glioblastoma' http://purl.obolibrary.org/obo/MONDO_0004361 adult spinal cord ependymoma 'adult spinal cord ependymoma' SubClassOf 'spinal cord ependymoma' 'adult spinal cord ependymoma' SubClassOf 'spinal cord ependymoma' http://purl.obolibrary.org/obo/MONDO_0004360 breast extraskeletal osteosarcoma 'breast extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'breast extraskeletal osteosarcoma' SubClassOf 'breast sarcoma' 'breast extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'breast extraskeletal osteosarcoma' SubClassOf 'breast sarcoma' http://purl.obolibrary.org/obo/MONDO_0004378 pediatric cerebral ependymoblastoma 'pediatric cerebral ependymoblastoma' SubClassOf 'ependymoblastoma' 'pediatric cerebral ependymoblastoma' SubClassOf 'ependymoblastoma' http://purl.obolibrary.org/obo/MONDO_0004379 female breast carcinoma 'female breast carcinoma' SubClassOf 'breast carcinoma' 'female breast carcinoma' SubClassOf 'breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0004374 adult extraskeletal osteosarcoma 'adult extraskeletal osteosarcoma' SubClassOf 'Malignant Bone Neoplasm' 'adult extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'adult extraskeletal osteosarcoma' SubClassOf 'Malignant Bone Neoplasm' 'adult extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0004389 mite infestation 'mite infestation' SubClassOf 'parasitic ectoparasitic infectious disease' 'mite infestation' SubClassOf 'parasitic ectoparasitic infectious disease' http://purl.obolibrary.org/obo/MONDO_0004384 maxillary sinus inverted papilloma 'maxillary sinus inverted papilloma' SubClassOf 'inverted papilloma' 'maxillary sinus inverted papilloma' SubClassOf 'maxillary sinus Schneiderian papilloma' 'maxillary sinus inverted papilloma' SubClassOf 'inverted papilloma' 'maxillary sinus inverted papilloma' SubClassOf 'maxillary sinus Schneiderian papilloma' http://purl.obolibrary.org/obo/MONDO_0004386 uterine corpus atypical polypoid adenomyoma 'uterine corpus atypical polypoid adenomyoma' SubClassOf 'adenomyoma of uterine corpus' 'uterine corpus atypical polypoid adenomyoma' SubClassOf 'atypical polypoid adenomyoma' 'uterine corpus atypical polypoid adenomyoma' SubClassOf 'adenomyoma of uterine corpus' 'uterine corpus atypical polypoid adenomyoma' SubClassOf 'atypical polypoid adenomyoma' http://purl.obolibrary.org/obo/MONDO_0004380 dendritic cell sarcoma 'dendritic cell sarcoma' SubClassOf 'dendritic cell tumor' 'dendritic cell sarcoma' SubClassOf 'sarcoma' 'dendritic cell sarcoma' SubClassOf 'leukocyte disorder' 'dendritic cell sarcoma' SubClassOf 'dendritic cell tumor' 'dendritic cell sarcoma' SubClassOf 'sarcoma' 'dendritic cell sarcoma' SubClassOf 'leukocyte disorder' http://purl.obolibrary.org/obo/MONDO_0004383 adult central nervous system germinoma 'adult central nervous system germinoma' SubClassOf 'adult central nervous system germ cell tumor' 'adult central nervous system germinoma' SubClassOf 'central nervous system germinoma' 'adult central nervous system germinoma' SubClassOf 'adult central nervous system germ cell tumor' 'adult central nervous system germinoma' SubClassOf 'central nervous system germinoma' http://purl.obolibrary.org/obo/MONDO_0043953 burkholderia infectious disease 'burkholderia infectious disease' SubClassOf 'gram-negative bacterial infections' 'burkholderia infectious disease' SubClassOf 'gram-negative bacterial infections' http://purl.obolibrary.org/obo/MONDO_0004398 mediastinal schwannoma 'mediastinal schwannoma' SubClassOf 'peripheral nerve schwannoma' 'mediastinal schwannoma' SubClassOf 'mediastinal neural neoplasm' 'mediastinal schwannoma' SubClassOf 'benign neoplasm of mediastinum' 'mediastinal schwannoma' SubClassOf 'peripheral nerve schwannoma' 'mediastinal schwannoma' SubClassOf 'mediastinal neural neoplasm' 'mediastinal schwannoma' SubClassOf 'benign neoplasm of mediastinum' http://purl.obolibrary.org/obo/MONDO_0004392 intracranial extraskeletal myxoid chondrosarcoma 'intracranial extraskeletal myxoid chondrosarcoma' SubClassOf 'extraskeletal myxoid chondrosarcoma' 'intracranial extraskeletal myxoid chondrosarcoma' EquivalentTo 'central nervous system sarcoma' and 'extraskeletal myxoid chondrosarcoma' 'intracranial extraskeletal myxoid chondrosarcoma' SubClassOf 'central nervous system sarcoma' 'intracranial extraskeletal myxoid chondrosarcoma' EquivalentTo 'central nervous system sarcoma' and 'extraskeletal myxoid chondrosarcoma' 'intracranial extraskeletal myxoid chondrosarcoma' SubClassOf 'extraskeletal myxoid chondrosarcoma' 'intracranial extraskeletal myxoid chondrosarcoma' SubClassOf 'central nervous system sarcoma' http://purl.obolibrary.org/obo/MONDO_0004394 maxillary sinus squamous cell carcinoma 'maxillary sinus squamous cell carcinoma' SubClassOf 'maxillary sinus carcinoma' 'maxillary sinus squamous cell carcinoma' SubClassOf 'maxillary sinus carcinoma' http://purl.obolibrary.org/obo/MONDO_0018801 congenital bilateral absence of vas deferens 'congenital bilateral absence of vas deferens' SubClassOf 'male reproductive system disease' 'congenital bilateral absence of vas deferens' SubClassOf 'disorder of development or morphogenesis' 'congenital bilateral absence of vas deferens' SubClassOf 'male reproductive system disease' 'congenital bilateral absence of vas deferens' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0018800 Kallmann syndrome 'Kallmann syndrome' SubClassOf 'hypogonadotropic hypogonadism' 'Kallmann syndrome' SubClassOf 'syndromic disease' 'Kallmann syndrome' SubClassOf 'hypogonadotropic hypogonadism' 'Kallmann syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018814 non-SCID combined immunodeficiency 'non-SCID combined immunodeficiency' SubClassOf 'combined immunodeficiency' 'severe combined immunodeficiency' DisjointWith 'non-SCID combined immunodeficiency' 'non-SCID combined immunodeficiency' SubClassOf 'combined immunodeficiency' 'severe combined immunodeficiency' DisjointWith 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0018829 familial schizencephaly 'familial schizencephaly' SubClassOf 'COL4A1-related disorder' 'familial schizencephaly' SubClassOf 'schizencephaly' 'familial schizencephaly' SubClassOf 'COL4A1-related disorder' 'familial schizencephaly' SubClassOf 'schizencephaly' http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' SubClassOf 'type 1 interferonopathy of childhood' 'familial chilblain lupus' SubClassOf 'type 1 interferonopathy of childhood' http://purl.obolibrary.org/obo/MONDO_0018820 recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 'recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf 'inherited neurodegenerative disorder' 'recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'eye disease' 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'eye disease' 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018839 acquired schizencephaly 'acquired schizencephaly' SubClassOf 'schizencephaly' 'acquired schizencephaly' SubClassOf 'schizencephaly' http://purl.obolibrary.org/obo/MONDO_0018838 lissencephaly spectrum disorders 'lissencephaly spectrum disorders' SubClassOf 'disorder of development or morphogenesis' 'lissencephaly spectrum disorders' SubClassOf 'disease has major feature' some 'Lissencephaly' 'lissencephaly spectrum disorders' SubClassOf 'congenital nervous system disorder' 'lissencephaly spectrum disorders' SubClassOf 'disorder of development or morphogenesis' 'lissencephaly spectrum disorders' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Lissencephaly' 'lissencephaly spectrum disorders' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018837 postinfectious vasculitis 'postinfectious vasculitis' SubClassOf 'secondary vasculitis' 'postinfectious vasculitis' SubClassOf 'secondary vasculitis' http://purl.obolibrary.org/obo/MONDO_0018832 HTRA1-related autosomal dominant cerebral small vessel disease 'HTRA1-related autosomal dominant cerebral small vessel disease' SubClassOf 'cerebrovascular disorder' 'HTRA1-related autosomal dominant cerebral small vessel disease' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0004207 pulmonary artery leiomyosarcoma 'pulmonary artery leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'pulmonary artery leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0004202 adrenal medulla carcinoma 'adrenal medulla carcinoma' SubClassOf 'adrenal medulla cancer' 'adrenal medulla carcinoma' SubClassOf 'adrenal medulla cancer' http://purl.obolibrary.org/obo/MONDO_0004204 squamous cell skin papilloma 'squamous cell skin papilloma' SubClassOf 'skin papilloma' 'squamous cell skin papilloma' SubClassOf 'squamous papilloma' 'squamous cell skin papilloma' SubClassOf 'skin papilloma' 'squamous cell skin papilloma' SubClassOf 'squamous papilloma' http://purl.obolibrary.org/obo/MONDO_0018849 dentinogenesis imperfecta 'dentinogenesis imperfecta' SubClassOf 'tooth disease' 'dentinogenesis imperfecta' SubClassOf 'tooth disease' http://purl.obolibrary.org/obo/MONDO_0018848 IgG4-related retroperitoneal fibrosis 'IgG4-related retroperitoneal fibrosis' SubClassOf 'IgG4-related disease' 'IgG4-related retroperitoneal fibrosis' SubClassOf 'IgG4-related disease' http://purl.obolibrary.org/obo/MONDO_0018843 embryonal carcinoma of the central nervous system 'embryonal carcinoma of the central nervous system' SubClassOf 'central nervous system cancer' 'embryonal carcinoma of the central nervous system' SubClassOf 'embryonal carcinoma' 'embryonal carcinoma of the central nervous system' SubClassOf 'central nervous system cancer' 'embryonal carcinoma of the central nervous system' SubClassOf 'embryonal carcinoma' http://purl.obolibrary.org/obo/MONDO_0018844 urachal cyst 'urachal cyst' SubClassOf 'congenital urachal anomaly' 'urachal cyst' SubClassOf 'congenital urachal anomaly' http://purl.obolibrary.org/obo/MONDO_0004217 childhood brain germinoma 'childhood brain germinoma' SubClassOf 'brain germinoma' 'childhood brain germinoma' SubClassOf 'brain germinoma' http://purl.obolibrary.org/obo/MONDO_0004216 pineal region germinoma 'pineal region germinoma' SubClassOf 'brain germinoma' 'pineal region germinoma' SubClassOf 'malignant pineal area germ cell neoplasm' 'pineal region germinoma' SubClassOf 'brain germinoma' 'pineal region germinoma' SubClassOf 'malignant pineal area germ cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0004215 cutaneous anthrax 'cutaneous anthrax' SubClassOf 'anthrax infection' 'cutaneous anthrax' SubClassOf 'skin disease caused by bacterial infection' 'cutaneous anthrax' SubClassOf 'anthrax infection' 'cutaneous anthrax' SubClassOf 'skin disease caused by bacterial infection' http://purl.obolibrary.org/obo/MONDO_0018858 Graham Little-Piccardi-Lassueur syndrome 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'alopecia' 'Graham Little-Piccardi-Lassueur syndrome' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0018855 keratosis pilaris atrophicans 'keratosis pilaris atrophicans' SubClassOf 'keratosis pilaris' 'keratosis pilaris atrophicans' SubClassOf 'epidermal disease' 'keratosis pilaris atrophicans' SubClassOf 'keratosis pilaris' 'keratosis pilaris atrophicans' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia 'achromatopsia' SubClassOf 'color vision disorder' 'achromatopsia' SubClassOf 'retinopathy' 'achromatopsia' SubClassOf 'color vision disorder' 'achromatopsia' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0018851 familial keratoacanthoma 'familial keratoacanthoma' SubClassOf 'keratoacanthoma' 'familial keratoacanthoma' SubClassOf 'keratoacanthoma' http://purl.obolibrary.org/obo/MONDO_0004223 polyp of middle ear 'polyp of middle ear' SubClassOf 'polyp' 'polyp of middle ear' SubClassOf 'neoplasm of middle ear' 'polyp of middle ear' SubClassOf 'polyp' 'polyp of middle ear' SubClassOf 'neoplasm of middle ear' http://purl.obolibrary.org/obo/MONDO_0004222 ovarian clear cell cystadenocarcinoma 'ovarian clear cell cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian clear cell cystadenocarcinoma' SubClassOf 'ovarian clear cell adenocarcinoma' 'ovarian clear cell cystadenocarcinoma' EquivalentTo 'ovarian clear cell adenocarcinoma' and 'ovarian cystadenocarcinoma' 'ovarian clear cell cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian clear cell cystadenocarcinoma' SubClassOf 'ovarian clear cell adenocarcinoma' 'ovarian clear cell cystadenocarcinoma' EquivalentTo 'ovarian clear cell adenocarcinoma' and 'ovarian cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004221 uterine corpus perivascular epithelioid cell tumor 'uterine corpus perivascular epithelioid cell tumor' SubClassOf 'PEComa' 'uterine corpus perivascular epithelioid cell tumor' SubClassOf 'PEComa' http://purl.obolibrary.org/obo/MONDO_0018869 cobblestone lissencephaly 'cobblestone lissencephaly' SubClassOf 'lissencephaly spectrum disorders' 'cobblestone lissencephaly' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy 'metachromatic leukodystrophy' SubClassOf 'sphingolipidosis' 'metachromatic leukodystrophy' SubClassOf 'leukodystrophy' 'metachromatic leukodystrophy' SubClassOf 'hereditary peripheral neuropathy' 'metachromatic leukodystrophy' SubClassOf 'sphingolipidosis' 'metachromatic leukodystrophy' SubClassOf 'leukodystrophy' 'metachromatic leukodystrophy' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018865 striate palmoplantar keratoderma 'striate palmoplantar keratoderma' SubClassOf 'focal palmoplantar keratoderma' 'striate palmoplantar keratoderma' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0018866 Aicardi-Goutieres syndrome 'Aicardi-Goutieres syndrome' SubClassOf 'autosomal recessive disease' 'Aicardi-Goutieres syndrome' SubClassOf 'type 1 interferonopathy of childhood' 'Aicardi-Goutieres syndrome' SubClassOf 'inborn error of immunity' 'Aicardi-Goutieres syndrome' SubClassOf 'leukodystrophy' 'Aicardi-Goutieres syndrome' SubClassOf 'autosomal recessive disease' 'Aicardi-Goutieres syndrome' SubClassOf 'type 1 interferonopathy of childhood' 'Aicardi-Goutieres syndrome' SubClassOf 'inborn error of immunity' 'Aicardi-Goutieres syndrome' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0018861 Zellweger-like syndrome without peroxisomal anomalies 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease shares features of' some 'Zellweger spectrum disorders' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Zellweger spectrum disorders' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0018860 microlissencephaly-micromelia syndrome 'microlissencephaly-micromelia syndrome' SubClassOf 'syndromic disease' 'microlissencephaly-micromelia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0004239 cervical keratinizing squamous cell carcinoma 'cervical keratinizing squamous cell carcinoma' SubClassOf 'cervical squamous cell carcinoma' 'cervical keratinizing squamous cell carcinoma' SubClassOf 'keratinizing squamous cell carcinoma' 'cervical keratinizing squamous cell carcinoma' SubClassOf 'cervical squamous cell carcinoma' 'cervical keratinizing squamous cell carcinoma' SubClassOf 'keratinizing squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004235 diverticulitis 'diverticulitis' SubClassOf 'inflammatory disease' 'diverticulitis' SubClassOf 'intestinal disease' 'diverticulitis' SubClassOf 'inflammatory disease' 'diverticulitis' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0004231 spindle cell variant squamous cell breast carcinoma 'spindle cell variant squamous cell breast carcinoma' SubClassOf 'squamous cell breast carcinoma' 'spindle cell variant squamous cell breast carcinoma' SubClassOf 'sarcomatoid squamous cell carcinoma' 'spindle cell variant squamous cell breast carcinoma' SubClassOf 'squamous cell breast carcinoma' 'spindle cell variant squamous cell breast carcinoma' SubClassOf 'sarcomatoid squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004233 childhood pleomorphic rhabdomyosarcoma 'childhood pleomorphic rhabdomyosarcoma' SubClassOf 'pleomorphic rhabdomyosarcoma' 'childhood pleomorphic rhabdomyosarcoma' SubClassOf 'pleomorphic rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0018875 Li-Fraumeni syndrome 'Li-Fraumeni syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Li-Fraumeni syndrome' SubClassOf 'autosomal dominant disease' 'Li-Fraumeni syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Li-Fraumeni syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0018878 branchiootic syndrome 'branchiootic syndrome' SubClassOf 'syndromic disease' 'branchiootic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'branchiootic syndrome' SubClassOf 'syndromic disease' 'branchiootic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018870 arterial calcification of infancy 'arterial calcification of infancy' SubClassOf 'vascular disease' 'arterial calcification of infancy' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0004245 ependymal tumor of brain 'ependymal tumor of brain' SubClassOf 'ependymal neoplasm' 'ependymal tumor of brain' SubClassOf 'brain glioma' 'ependymal tumor of brain' SubClassOf 'ependymal neoplasm' 'ependymal tumor of brain' SubClassOf 'brain glioma' http://purl.obolibrary.org/obo/MONDO_0004247 peptic ulcer disease 'peptic ulcer disease' SubClassOf 'ulcer disease' 'peptic ulcer disease' SubClassOf 'digestive system disease' 'peptic ulcer disease' SubClassOf 'ulcer disease' 'peptic ulcer disease' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0018889 hyaline body myopathy 'hyaline body myopathy' SubClassOf 'congenital myopathy' 'hyaline body myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'hyaline body myopathy' SubClassOf 'congenital myopathy' 'hyaline body myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' http://purl.obolibrary.org/obo/MONDO_0018883 Berardinelli-Seip congenital lipodystrophy 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'disorder of development or morphogenesis' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'hereditary lipodystrophy' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'disorder of development or morphogenesis' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'hereditary lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0018884 Roch-Leri mesosomatous lipomatosis 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'subcutaneous tissue disorder' 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0004257 childhood central nervous system mixed germ cell tumor 'childhood central nervous system mixed germ cell tumor' SubClassOf 'childhood central nervous system germ cell tumor' 'childhood central nervous system mixed germ cell tumor' SubClassOf 'childhood central nervous system germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0004259 endocervical carcinoma 'endocervical carcinoma' SubClassOf 'malignant neoplasm of endocervix' 'endocervical carcinoma' SubClassOf 'cervical carcinoma' 'endocervical carcinoma' SubClassOf 'malignant neoplasm of endocervix' 'endocervical carcinoma' SubClassOf 'cervical carcinoma' http://purl.obolibrary.org/obo/MONDO_0004255 Wolffian adnexal tumor 'Wolffian adnexal tumor' SubClassOf 'epithelial neoplasm' 'Wolffian adnexal tumor' SubClassOf 'uterine ligament neoplasm' 'Wolffian adnexal tumor' SubClassOf 'epithelial neoplasm' 'Wolffian adnexal tumor' SubClassOf 'uterine ligament neoplasm' http://purl.obolibrary.org/obo/MONDO_0004251 small intestine neoplasm 'small intestine neoplasm' SubClassOf 'intestinal neoplasm' 'small intestine neoplasm' SubClassOf 'intestinal neoplasm' http://purl.obolibrary.org/obo/MONDO_0004250 extrahepatic bile duct papillary adenoma 'extrahepatic bile duct papillary adenoma' SubClassOf 'extrahepatic bile duct adenoma' 'extrahepatic bile duct papillary adenoma' SubClassOf 'bile duct papillary neoplasm' 'extrahepatic bile duct papillary adenoma' SubClassOf 'papillary adenoma' 'extrahepatic bile duct papillary adenoma' SubClassOf 'extrahepatic bile duct adenoma' 'extrahepatic bile duct papillary adenoma' SubClassOf 'bile duct papillary neoplasm' 'extrahepatic bile duct papillary adenoma' SubClassOf 'papillary adenoma' http://purl.obolibrary.org/obo/MONDO_0018898 primary cutaneous lymphoma 'primary cutaneous lymphoma' SubClassOf 'primary organ-specific lymphoma' 'primary cutaneous lymphoma' SubClassOf 'skin cancer' 'primary cutaneous lymphoma' SubClassOf 'primary organ-specific lymphoma' 'primary cutaneous lymphoma' SubClassOf 'skin cancer' http://purl.obolibrary.org/obo/MONDO_0018899 posterior cortical atrophy 'posterior cortical atrophy' SubClassOf 'inherited neurodegenerative disorder' 'posterior cortical atrophy' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0018894 distal hereditary motor neuropathy 'distal hereditary motor neuropathy' SubClassOf 'hereditary peripheral neuropathy' 'distal hereditary motor neuropathy' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0018896 thrombotic thrombocytopenic purpura 'thrombotic thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' 'thrombotic thrombocytopenic purpura' SubClassOf 'thrombophilia' 'thrombotic thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' 'thrombotic thrombocytopenic purpura' SubClassOf 'thrombophilia' http://purl.obolibrary.org/obo/MONDO_0018892 Wyburn-Mason syndrome 'Wyburn-Mason syndrome' SubClassOf 'cerebrofacial arteriovenous metameric syndrome' 'Wyburn-Mason syndrome' SubClassOf 'skin vascular disease' 'Wyburn-Mason syndrome' SubClassOf 'neurocutaneous syndrome' 'Wyburn-Mason syndrome' SubClassOf 'cerebrofacial arteriovenous metameric syndrome' 'Wyburn-Mason syndrome' SubClassOf 'skin vascular disease' 'Wyburn-Mason syndrome' SubClassOf 'neurocutaneous syndrome' http://purl.obolibrary.org/obo/MONDO_0004263 pediatric infratentorial ependymoblastoma 'pediatric infratentorial ependymoblastoma' SubClassOf 'ependymoblastoma' 'pediatric infratentorial ependymoblastoma' SubClassOf 'childhood infratentorial neoplasm' 'pediatric infratentorial ependymoblastoma' SubClassOf 'infratentorial cancer' 'pediatric infratentorial ependymoblastoma' SubClassOf 'ependymoblastoma' 'pediatric infratentorial ependymoblastoma' SubClassOf 'childhood infratentorial neoplasm' 'pediatric infratentorial ependymoblastoma' SubClassOf 'infratentorial cancer' http://purl.obolibrary.org/obo/MONDO_0004265 acute endometritis 'acute endometritis' SubClassOf 'Endometritis' 'acute endometritis' SubClassOf 'Endometritis' http://purl.obolibrary.org/obo/MONDO_0043836 tuberculosis, spinal 'tuberculosis, spinal' SubClassOf 'skeletal tuberculosis' 'tuberculosis, spinal' SubClassOf 'vertebral column disorder' 'tuberculosis, spinal' SubClassOf 'skeletal tuberculosis' 'tuberculosis, spinal' SubClassOf 'vertebral column disorder' http://purl.obolibrary.org/obo/MONDO_0028226 autosomal recessive severe congenital neutropenia 'autosomal recessive severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' 'autosomal recessive severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0004270 breast ductal adenoma 'breast ductal adenoma' SubClassOf 'breast adenoma' 'breast ductal adenoma' SubClassOf 'breast adenoma' http://purl.obolibrary.org/obo/MONDO_0004272 urinary bladder tuberculosis 'urinary bladder tuberculosis' SubClassOf 'urogenital tuberculosis' 'urinary bladder tuberculosis' SubClassOf 'bladder disease' 'urinary bladder tuberculosis' SubClassOf 'urogenital tuberculosis' 'urinary bladder tuberculosis' SubClassOf 'bladder disease' http://purl.obolibrary.org/obo/MONDO_0004289 glottis verrucous carcinoma 'glottis verrucous carcinoma' SubClassOf 'glottis squamous cell carcinoma' 'glottis verrucous carcinoma' SubClassOf 'larynx verrucous carcinoma' 'glottis verrucous carcinoma' SubClassOf 'glottis squamous cell carcinoma' 'glottis verrucous carcinoma' SubClassOf 'larynx verrucous carcinoma' http://purl.obolibrary.org/obo/MONDO_0004281 vulvar eccrine porocarcinoma 'vulvar eccrine porocarcinoma' SubClassOf 'Eccrine Porocarcinoma' 'vulvar eccrine porocarcinoma' SubClassOf 'vulvar eccrine adenocarcinoma' 'vulvar eccrine porocarcinoma' SubClassOf 'Eccrine Porocarcinoma' 'vulvar eccrine porocarcinoma' SubClassOf 'vulvar eccrine adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004293 supraglottis squamous cell carcinoma 'supraglottis squamous cell carcinoma' SubClassOf 'laryngeal squamous cell carcinoma' 'supraglottis squamous cell carcinoma' SubClassOf 'carcinoma of supraglottis' 'supraglottis squamous cell carcinoma' SubClassOf 'laryngeal squamous cell carcinoma' 'supraglottis squamous cell carcinoma' SubClassOf 'carcinoma of supraglottis' http://purl.obolibrary.org/obo/MONDO_0004292 supraglottis verrucous carcinoma 'supraglottis verrucous carcinoma' SubClassOf 'supraglottis squamous cell carcinoma' 'supraglottis verrucous carcinoma' SubClassOf 'supraglottis squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004295 asbestos-related lung carcinoma 'asbestos-related lung carcinoma' SubClassOf 'lung carcinoma' 'asbestos-related lung carcinoma' SubClassOf 'lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0004294 gestational ovarian choriocarcinoma 'gestational ovarian choriocarcinoma' SubClassOf 'gestational choriocarcinoma' 'gestational ovarian choriocarcinoma' SubClassOf 'Ovarian Choriocarcinoma' 'gestational ovarian choriocarcinoma' SubClassOf 'gestational choriocarcinoma' 'gestational ovarian choriocarcinoma' SubClassOf 'Ovarian Choriocarcinoma' http://purl.obolibrary.org/obo/MONDO_0043878 hereditary optic atrophy 'hereditary optic atrophy' SubClassOf 'inherited neurodegenerative disorder' 'hereditary optic atrophy' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0043885 eye infectious disorder 'eye infectious disorder' SubClassOf 'eye disease' 'eye infectious disorder' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0003100 peripheral neuropathy 'peripheral neuropathy' SubClassOf 'peripheral nervous system disease' 'peripheral neuropathy' SubClassOf 'neuromuscular disease' 'peripheral neuropathy' SubClassOf 'peripheral nervous system disease' 'peripheral neuropathy' SubClassOf 'neuromuscular disease' http://www.ebi.ac.uk/efo/EFO_0003102 osteomyelitis 'osteomyelitis' SubClassOf 'bone inflammation disease' 'osteomyelitis' SubClassOf 'bone inflammation disease' http://www.ebi.ac.uk/efo/EFO_0003101 testicular seminoma 'testicular seminoma' SubClassOf 'seminoma' 'testicular seminoma' SubClassOf 'malignant testicular germ cell tumor' 'testicular seminoma' SubClassOf 'testicular pure germ cell tumor' 'testicular seminoma' SubClassOf 'seminoma' 'testicular seminoma' SubClassOf 'malignant testicular germ cell tumor' 'testicular seminoma' SubClassOf 'testicular pure germ cell tumor' http://www.ebi.ac.uk/efo/EFO_0003104 adrenocortical adenoma 'adrenocortical adenoma' SubClassOf 'adenoma' 'adrenocortical adenoma' SubClassOf 'benign neoplasm of adrenal gland' 'adrenocortical adenoma' SubClassOf 'adenoma' 'adrenocortical adenoma' SubClassOf 'benign neoplasm of adrenal gland' http://www.ebi.ac.uk/efo/EFO_0003106 pneumonia 'pneumonia' SubClassOf 'pneumonitis' 'pneumonia' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_0003105 spina bifida 'spina bifida' SubClassOf 'disorder of development or morphogenesis' 'spina bifida' SubClassOf 'congenital nervous system disorder' 'spina bifida' SubClassOf 'disorder of development or morphogenesis' 'spina bifida' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0003108 essential tremor 'essential tremor' SubClassOf 'movement disorder' 'essential tremor' SubClassOf 'movement disorder' http://www.ebi.ac.uk/efo/EFO_0003144 heart failure 'heart failure' SubClassOf 'disease has location' some 'heart' 'heart failure' SubClassOf 'heart disease' 'heart failure' SubClassOf 'disease has location' some 'heart' 'heart failure' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_0003146 symptomatic heart failure 'symptomatic heart failure' SubClassOf 'heart failure' 'symptomatic heart failure' SubClassOf 'heart failure' http://www.ebi.ac.uk/efo/EFO_0003145 high output heart failure 'high output heart failure' SubClassOf 'heart failure' 'high output heart failure' SubClassOf 'heart failure' http://www.ebi.ac.uk/efo/EFO_0003148 moderate heart failure 'moderate heart failure' SubClassOf 'symptomatic heart failure' 'moderate heart failure' SubClassOf 'symptomatic heart failure' http://www.ebi.ac.uk/efo/EFO_0003147 mild heart failure 'mild heart failure' SubClassOf 'symptomatic heart failure' 'mild heart failure' SubClassOf 'symptomatic heart failure' http://www.ebi.ac.uk/efo/EFO_0003149 advanced heart failure 'advanced heart failure' SubClassOf 'symptomatic heart failure' 'advanced heart failure' SubClassOf 'symptomatic heart failure' http://purl.obolibrary.org/obo/MONDO_0018906 follicular lymphoma 'follicular lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' 'follicular lymphoma' SubClassOf 'neoplasm of mature B-cells' 'follicular lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' 'follicular lymphoma' SubClassOf 'neoplasm of mature B-cells' http://purl.obolibrary.org/obo/MONDO_0018901 left ventricular noncompaction 'left ventricular noncompaction' SubClassOf 'intrinsic cardiomyopathy' 'left ventricular noncompaction' SubClassOf 'syndromic disease' 'left ventricular noncompaction' SubClassOf 'congenital heart disease' 'left ventricular noncompaction' SubClassOf 'intrinsic cardiomyopathy' 'left ventricular noncompaction' SubClassOf 'syndromic disease' 'left ventricular noncompaction' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis 'primary membranoproliferative glomerulonephritis' SubClassOf 'glomerulonephritis' 'primary membranoproliferative glomerulonephritis' SubClassOf 'glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0018919 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'skeletal dysplasia' 'McCune-Albright syndrome' SubClassOf 'syndromic disease' 'McCune-Albright syndrome' SubClassOf 'skeletal dysplasia' 'McCune-Albright syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018918 carcinoma of gallbladder and extrahepatic biliary tract 'carcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'extrahepatic bile duct neoplasm' 'carcinoma of gallbladder and extrahepatic biliary tract' SubClassOf 'extrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0018914 hypotrichosis simplex 'hypotrichosis simplex' SubClassOf 'alopecia' 'hypotrichosis simplex' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0018911 maturity-onset diabetes of the young 'maturity-onset diabetes of the young' SubClassOf 'monogenic diabetes' 'maturity-onset diabetes of the young' SubClassOf 'disorder of glycolysis' 'maturity-onset diabetes of the young' SubClassOf 'monogenic diabetes' 'maturity-onset diabetes of the young' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0018910 oculocutaneous albinism 'oculocutaneous albinism' SubClassOf 'hypopigmentation of the skin' 'oculocutaneous albinism' SubClassOf 'disorder of melanin metabolism' 'oculocutaneous albinism' SubClassOf 'hypopigmentation of the skin' 'oculocutaneous albinism' SubClassOf 'disorder of melanin metabolism' http://purl.obolibrary.org/obo/MONDO_0000603 autoimmune disorder of cardiovascular system 'autoimmune disorder of cardiovascular system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of cardiovascular system' SubClassOf 'cardiovascular disease' 'autoimmune disorder of cardiovascular system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of cardiovascular system' SubClassOf 'cardiovascular disease' http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disorder of blood 'autoimmune disorder of blood' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of blood' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0000611 pre-malignant neoplasm 'pre-malignant neoplasm' SubClassOf 'precancerous condition' 'pre-malignant neoplasm' SubClassOf 'neoplasm' 'pre-malignant neoplasm' SubClassOf 'precancerous condition' 'pre-malignant neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0000612 lymphatic system cancer 'lymphatic system cancer' SubClassOf 'immune system cancer' 'lymphatic system cancer' SubClassOf 'lymphatic system disease' 'lymphatic system cancer' SubClassOf 'immune system cancer' 'lymphatic system cancer' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/GO_0006768 biotin metabolic process 'biotin metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000621 immune system cancer 'immune system cancer' SubClassOf 'immune system disease' 'immune system cancer' SubClassOf 'cancer' 'immune system cancer' SubClassOf 'immune system disease' 'immune system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0000620 breast benign neoplasm 'breast benign neoplasm' SubClassOf 'breast neoplasm' 'breast benign neoplasm' SubClassOf 'thoracic benign neoplasm' 'breast benign neoplasm' SubClassOf 'breast neoplasm' 'breast benign neoplasm' SubClassOf 'thoracic benign neoplasm' http://purl.obolibrary.org/obo/GO_0006772 thiamine metabolic process 'thiamine metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000625 benign male reproductive system neoplasm 'benign male reproductive system neoplasm' SubClassOf 'benign reproductive system neoplasm' 'benign male reproductive system neoplasm' SubClassOf 'benign reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000624 benign female reproductive system neoplasm 'benign female reproductive system neoplasm' SubClassOf 'female reproductive system neoplasm' 'benign female reproductive system neoplasm' SubClassOf 'benign reproductive system neoplasm' 'benign female reproductive system neoplasm' SubClassOf 'female reproductive system neoplasm' 'benign female reproductive system neoplasm' SubClassOf 'benign reproductive system neoplasm' http://purl.obolibrary.org/obo/GO_0006778 porphyrin-containing compound metabolic process 'porphyrin-containing compound metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000629 cardiovascular organ benign neoplasm 'cardiovascular organ benign neoplasm' SubClassOf 'benign neoplasm' 'cardiovascular organ benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000628 central nervous system organ benign neoplasm 'central nervous system organ benign neoplasm' SubClassOf 'nervous system benign neoplasm' 'central nervous system organ benign neoplasm' SubClassOf 'nervous system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000627 benign endocrine neoplasm 'benign endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'benign endocrine neoplasm' SubClassOf 'benign neoplasm' 'benign endocrine neoplasm' SubClassOf 'endocrine neoplasm' 'benign endocrine neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000633 sensory organ benign neoplasm 'sensory organ benign neoplasm' SubClassOf 'nervous system benign neoplasm' 'sensory organ benign neoplasm' SubClassOf 'nervous system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000632 uterine benign neoplasm 'uterine benign neoplasm' SubClassOf 'uterine neoplasm' 'uterine benign neoplasm' SubClassOf 'benign female reproductive system neoplasm' 'uterine benign neoplasm' SubClassOf 'uterine neoplasm' 'uterine benign neoplasm' SubClassOf 'benign female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000631 bone benign neoplasm 'bone benign neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' 'bone benign neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0000630 immune system organ benign neoplasm 'immune system organ benign neoplasm' SubClassOf 'benign neoplasm' 'immune system organ benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000637 musculoskeletal system cancer 'musculoskeletal system cancer' SubClassOf 'musculoskeletal system disease' 'musculoskeletal system cancer' SubClassOf 'cancer' 'musculoskeletal system cancer' SubClassOf 'musculoskeletal system disease' 'musculoskeletal system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0000636 musculoskeletal system benign neoplasm 'musculoskeletal system benign neoplasm' SubClassOf 'benign neoplasm' 'musculoskeletal system benign neoplasm' SubClassOf 'musculoskeletal system disease' 'musculoskeletal system benign neoplasm' SubClassOf 'musculoskeletal system disease' 'musculoskeletal system benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000634 thoracic benign neoplasm 'thoracic benign neoplasm' SubClassOf 'neoplasm of thorax' 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' 'thoracic benign neoplasm' SubClassOf 'neoplasm of thorax' 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000640 central nervous system primitive neuroectodermal neoplasm 'central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system cancer' 'central nervous system primitive neuroectodermal neoplasm' SubClassOf 'primitive neuroectodermal tumor' 'central nervous system primitive neuroectodermal neoplasm' SubClassOf 'central nervous system cancer' 'central nervous system primitive neuroectodermal neoplasm' SubClassOf 'primitive neuroectodermal tumor' http://purl.obolibrary.org/obo/MONDO_0000644 cervical benign neoplasm 'cervical benign neoplasm' SubClassOf 'uterine cervix neoplasm' 'cervical benign neoplasm' SubClassOf 'uterine benign neoplasm' 'cervical benign neoplasm' SubClassOf 'uterine cervix neoplasm' 'cervical benign neoplasm' SubClassOf 'uterine benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000643 vulvar benign neoplasm 'vulvar benign neoplasm' SubClassOf 'vulvar neoplasm' 'vulvar benign neoplasm' SubClassOf 'benign female reproductive system neoplasm' 'vulvar benign neoplasm' SubClassOf 'vulvar neoplasm' 'vulvar benign neoplasm' SubClassOf 'benign female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0024610 parasitic skin disorder 'parasitic skin disorder' SubClassOf 'parasitic infection' 'parasitic skin disorder' SubClassOf 'skin disorder caused by infection' 'parasitic skin disorder' SubClassOf 'parasitic infection' 'parasitic skin disorder' SubClassOf 'skin disorder caused by infection' http://purl.obolibrary.org/obo/MONDO_0000648 nervous system benign neoplasm 'nervous system benign neoplasm' SubClassOf 'nervous system neoplasm' 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' 'nervous system benign neoplasm' SubClassOf 'nervous system neoplasm' 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0024615 T-cell and NK-cell neoplasm 'T-cell and NK-cell neoplasm' SubClassOf 'lymphoid neoplasm' 'T-cell and NK-cell neoplasm' SubClassOf 'lymphoid neoplasm' http://purl.obolibrary.org/obo/MONDO_0000647 benign vaginal neoplasm 'benign vaginal neoplasm' SubClassOf 'Vaginal neoplasm' 'benign vaginal neoplasm' SubClassOf 'benign female reproductive system neoplasm' 'benign vaginal neoplasm' SubClassOf 'Vaginal neoplasm' 'benign vaginal neoplasm' SubClassOf 'benign female reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000645 fallopian tube benign neoplasm 'fallopian tube benign neoplasm' SubClassOf 'benign female reproductive system neoplasm' 'fallopian tube benign neoplasm' SubClassOf 'fallopian tube neoplasm' 'fallopian tube benign neoplasm' SubClassOf 'benign female reproductive system neoplasm' 'fallopian tube benign neoplasm' SubClassOf 'fallopian tube neoplasm' http://purl.obolibrary.org/obo/MONDO_0024618 poliovirus infection 'poliovirus infection' SubClassOf 'Enterovirus infectious disease' 'poliovirus infection' SubClassOf 'Enterovirus infectious disease' http://purl.obolibrary.org/obo/MONDO_0000649 sensory system cancer 'sensory system cancer' SubClassOf 'nervous system cancer' 'sensory system cancer' SubClassOf 'nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0000650 peritoneal benign neoplasm 'peritoneal benign neoplasm' SubClassOf 'benign neoplasm' 'peritoneal benign neoplasm' SubClassOf 'peritoneal neoplasm' 'peritoneal benign neoplasm' SubClassOf 'benign neoplasm' 'peritoneal benign neoplasm' SubClassOf 'peritoneal neoplasm' http://purl.obolibrary.org/obo/MONDO_0000654 benign connective and soft tissue neoplasm 'benign connective and soft tissue neoplasm' SubClassOf 'connective and soft tissue neoplasm' 'benign connective and soft tissue neoplasm' SubClassOf 'connective tissue disease' 'benign connective and soft tissue neoplasm' SubClassOf 'musculoskeletal system benign neoplasm' 'benign connective and soft tissue neoplasm' SubClassOf 'connective and soft tissue neoplasm' 'benign connective and soft tissue neoplasm' SubClassOf 'connective tissue disease' 'benign connective and soft tissue neoplasm' SubClassOf 'musculoskeletal system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000653 integumentary system cancer 'integumentary system cancer' SubClassOf 'cancer' 'integumentary system cancer' SubClassOf 'integumentary system disease' 'integumentary system cancer' SubClassOf 'cancer' 'integumentary system cancer' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0000652 integumentary system benign neoplasm 'integumentary system benign neoplasm' SubClassOf 'integumentary system disease' 'integumentary system benign neoplasm' SubClassOf 'benign neoplasm' 'integumentary system benign neoplasm' SubClassOf 'integumentary system disease' 'integumentary system benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000661 alexithymia 'alexithymia' SubClassOf 'agnosia' 'alexithymia' SubClassOf 'agnosia' http://purl.obolibrary.org/obo/MONDO_0000666 associative visual agnosia 'associative visual agnosia' SubClassOf 'visual agnosia' 'associative visual agnosia' SubClassOf 'visual agnosia' http://purl.obolibrary.org/obo/MONDO_0000665 apraxia 'apraxia' SubClassOf 'perceptual disorders' 'apraxia' SubClassOf 'perceptual disorders' http://purl.obolibrary.org/obo/MONDO_0024635 small intestine disorder 'small intestine disorder' SubClassOf 'intestinal disease' 'small intestine disorder' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0024634 large intestine disorder 'large intestine disorder' SubClassOf 'intestinal disease' 'large intestine disorder' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm 'malignant soft tissue neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'malignant soft tissue neoplasm' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0024636 inflammation of heart layer 'inflammation of heart layer' SubClassOf 'heart disease' 'inflammation of heart layer' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0000667 auditory agnosia 'auditory agnosia' SubClassOf 'agnosia' 'auditory agnosia' SubClassOf 'agnosia' http://purl.obolibrary.org/obo/MONDO_0024638 pancreatic gastrinoma 'pancreatic gastrinoma' SubClassOf 'pancreatic gastrin-producing neuroendocrine tumor' 'pancreatic gastrinoma' SubClassOf 'functional pancreatic neuroendocrine tumor' 'pancreatic gastrinoma' SubClassOf 'pancreatic gastrin-producing neuroendocrine tumor' 'pancreatic gastrinoma' SubClassOf 'functional pancreatic neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0024620 meningitis caused by poliovirus 'meningitis caused by poliovirus' SubClassOf 'infectious meningitis' 'meningitis caused by poliovirus' SubClassOf 'infectious meningitis' http://purl.obolibrary.org/obo/MONDO_0024622 thyroid gland adenocarcinoma 'thyroid gland adenocarcinoma' SubClassOf 'thyroid carcinoma' 'thyroid gland adenocarcinoma' SubClassOf 'adenocarcinoma' 'thyroid gland adenocarcinoma' SubClassOf 'thyroid carcinoma' 'thyroid gland adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0024621 serous cystadenocarcinoma 'serous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'serous cystadenocarcinoma' SubClassOf 'serous adenocarcinoma' 'serous cystadenocarcinoma' EquivalentTo 'serous adenocarcinoma' and 'cystadenocarcinoma' 'serous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'serous cystadenocarcinoma' SubClassOf 'serous adenocarcinoma' 'serous cystadenocarcinoma' EquivalentTo 'serous adenocarcinoma' and 'cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0009009 hypoplasminogenemia 'hypoplasminogenemia' SubClassOf 'coagulation protein disease' 'hypoplasminogenemia' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0009008 heart defect - tongue hamartoma - polysyndactyly syndrome 'heart defect - tongue hamartoma - polysyndactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart defect - tongue hamartoma - polysyndactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009007 Jalili syndrome 'Jalili syndrome' SubClassOf 'disorder of development or morphogenesis' 'Jalili syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009001 macular coloboma-cleft palate-hallux valgus syndrome 'macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf 'hereditary macular dystrophy' 'macular coloboma-cleft palate-hallux valgus syndrome' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009000 familial reactive perforating collagenosis 'familial reactive perforating collagenosis' SubClassOf 'dermis disorder' 'familial reactive perforating collagenosis' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0009010 aortic arch interruption 'aortic arch interruption' SubClassOf 'congenital anomaly of the great arteries' 'aortic arch interruption' SubClassOf 'congenital anomaly of the great arteries' http://purl.obolibrary.org/obo/MONDO_0024626 defective phagocytic cell engulfment 'defective phagocytic cell engulfment' SubClassOf 'phagocytic cell dysfunction' 'defective phagocytic cell engulfment' SubClassOf 'phagocytic cell dysfunction' http://purl.obolibrary.org/obo/MONDO_0024625 disorder of lacrimal gland 'disorder of lacrimal gland' SubClassOf 'lacrimal apparatus disease' 'disorder of lacrimal gland' SubClassOf 'lacrimal apparatus disease' http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction 'phagocytic cell dysfunction' SubClassOf 'immune system disease' 'phagocytic cell dysfunction' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0024653 skull neoplasm 'skull neoplasm' SubClassOf 'head and neck neoplasia' 'skull neoplasm' SubClassOf 'head and neck neoplasia' http://purl.obolibrary.org/obo/MONDO_0000688 inborn organic aciduria 'inborn organic aciduria' SubClassOf 'inborn disorder of amino acid metabolism' 'inborn organic aciduria' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0024655 rheumatic pericarditis 'rheumatic pericarditis' SubClassOf 'rheumatic heart disease' 'rheumatic pericarditis' SubClassOf 'pericarditis' 'rheumatic pericarditis' SubClassOf 'rheumatic heart disease' 'rheumatic pericarditis' SubClassOf 'pericarditis' http://purl.obolibrary.org/obo/MONDO_0000685 visual agnosia 'visual agnosia' SubClassOf 'vision disorder' 'visual agnosia' SubClassOf 'disease has major feature' some 'Visual agnosia' 'visual agnosia' SubClassOf 'agnosia' 'visual agnosia' SubClassOf 'vision disorder' 'visual agnosia' SubClassOf 'agnosia' 'visual agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Visual agnosia' http://purl.obolibrary.org/obo/MONDO_0024656 colorectal lymphoma 'colorectal lymphoma' SubClassOf 'gastrointestinal lymphoma' 'colorectal lymphoma' SubClassOf 'colorectal cancer' 'colorectal lymphoma' SubClassOf 'gastrointestinal lymphoma' 'colorectal lymphoma' SubClassOf 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0009019 congenital hereditary endothelial dystrophy of cornea 'congenital hereditary endothelial dystrophy of cornea' SubClassOf 'corneal endothelial dystrophy' 'congenital hereditary endothelial dystrophy of cornea' SubClassOf 'posterior corneal dystrophy' 'congenital hereditary endothelial dystrophy of cornea' SubClassOf 'corneal endothelial dystrophy' 'congenital hereditary endothelial dystrophy of cornea' SubClassOf 'posterior corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009018 central cloudy dystrophy of François 'central cloudy dystrophy of François' SubClassOf 'posterior corneal dystrophy' 'central cloudy dystrophy of François' SubClassOf 'stromal corneal dystrophy' 'central cloudy dystrophy of François' SubClassOf 'posterior corneal dystrophy' 'central cloudy dystrophy of François' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010007 microbrachycephaly-ptosis-cleft lip syndrome 'microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microbrachycephaly-ptosis-cleft lip syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010006 Sandhoff disease 'Sandhoff disease' SubClassOf 'cerebral lipidosis with dementia' 'Sandhoff disease' SubClassOf 'hereditary peripheral neuropathy' 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' 'Sandhoff disease' SubClassOf 'cerebral lipidosis with dementia' 'Sandhoff disease' SubClassOf 'hereditary peripheral neuropathy' 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0009015 corneal dystrophy-perceptive deafness syndrome 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic disease' 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010008 sarcosinemia 'sarcosinemia' SubClassOf 'disorder of methylamine metabolism' 'sarcosinemia' SubClassOf 'disorder of methylamine metabolism' http://purl.obolibrary.org/obo/MONDO_0009014 cornea plana 2 'cornea plana 2' SubClassOf 'cornea plana' 'cornea plana 2' SubClassOf 'cornea plana' http://purl.obolibrary.org/obo/MONDO_0009012 multiple pterygium-malignant hyperthermia syndrome 'multiple pterygium-malignant hyperthermia syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'multiple pterygium-malignant hyperthermia syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0009021 Toriello-Carey syndrome 'Toriello-Carey syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Toriello-Carey syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009020 macular corneal dystrophy 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010001 ectodermal dysplasia-blindness syndrome 'ectodermal dysplasia-blindness syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia-blindness syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction 'rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction' SubClassOf 'genetic disorder' 'rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010002 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'telomere syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'hereditary photodermatosis' 'Rothmund-Thomson syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'disorder of development or morphogenesis' 'Rothmund-Thomson syndrome' SubClassOf 'telomere syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'hereditary photodermatosis' 'Rothmund-Thomson syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Rothmund-Thomson syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010005 saccharopinuria 'saccharopinuria' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' 'saccharopinuria' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome 'EEC syndrome' SubClassOf 'disorder of visual system' 'EEC syndrome' SubClassOf 'autosomal dominant disease' 'EEC syndrome' SubClassOf 'syndromic disease' 'EEC syndrome' SubClassOf 'disorder of visual system' 'EEC syndrome' SubClassOf 'autosomal dominant disease' 'EEC syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0024659 colorectal Kaposi sarcoma 'colorectal Kaposi sarcoma' SubClassOf 'Kaposi's sarcoma' 'colorectal Kaposi sarcoma' SubClassOf 'Kaposi's sarcoma' http://purl.obolibrary.org/obo/MONDO_0024658 extrahepatic bile duct sarcoma 'extrahepatic bile duct sarcoma' SubClassOf 'malignant tumor of extrahepatic bile duct' 'extrahepatic bile duct sarcoma' SubClassOf 'malignant tumor of extrahepatic bile duct' http://purl.obolibrary.org/obo/MONDO_0024642 gastric neuroendocrine tumor G2 'gastric neuroendocrine tumor G2' SubClassOf 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' 'gastric neuroendocrine tumor G2' SubClassOf 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' http://purl.obolibrary.org/obo/MONDO_0000698 gamma-amino butyric acid metabolism disorder 'gamma-amino butyric acid metabolism disorder' SubClassOf 'inborn disorder of amino acid metabolism' 'gamma-amino butyric acid metabolism disorder' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0024643 myocardial disorder 'myocardial disorder' SubClassOf 'heart disease' 'myocardial disorder' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm 'retroperitoneal neoplasm' SubClassOf 'neoplasm' 'retroperitoneal neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0009028 Crane-Heise syndrome 'Crane-Heise syndrome' SubClassOf 'genetic disorder' 'Crane-Heise syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010017 sea-blue histiocyte syndrome 'sea-blue histiocyte syndrome' SubClassOf 'non-Langerhans cell histiocytosis' 'sea-blue histiocyte syndrome' SubClassOf 'sphingolipidosis' 'sea-blue histiocyte syndrome' SubClassOf 'non-Langerhans cell histiocytosis' 'sea-blue histiocyte syndrome' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome 'Costello syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Costello syndrome' SubClassOf 'autosomal dominant disease' 'Costello syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'Costello syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Costello syndrome' SubClassOf 'autosomal dominant disease' 'Costello syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' http://purl.obolibrary.org/obo/MONDO_0009025 apparent mineralocorticoid excess 'apparent mineralocorticoid excess' SubClassOf 'steroid inherited metabolic disorder' 'apparent mineralocorticoid excess' SubClassOf 'adrenal gland disease' 'apparent mineralocorticoid excess' SubClassOf 'steroid inherited metabolic disorder' 'apparent mineralocorticoid excess' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0009024 cortical blindness-intellectual disability-polydactyly syndrome 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'disorder of visual system' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'syndromic disease' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'disorder of visual system' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'syndromic disease' 'cortical blindness-intellectual disability-polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia 'cranioectodermal dysplasia' SubClassOf 'short rib-polydactyly syndrome' 'cranioectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'cranioectodermal dysplasia' SubClassOf 'inherited renal tubular disease' 'cranioectodermal dysplasia' SubClassOf 'syndromic craniosynostosis' 'cranioectodermal dysplasia' SubClassOf 'short rib-polydactyly syndrome' 'cranioectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'cranioectodermal dysplasia' SubClassOf 'inherited renal tubular disease' 'cranioectodermal dysplasia' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'syndromic intellectual disability' 'Schinzel-Giedion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009031 craniodiaphyseal dysplasia 'craniodiaphyseal dysplasia' SubClassOf 'hyperostosis' 'craniodiaphyseal dysplasia' SubClassOf 'disorder of development or morphogenesis' 'craniodiaphyseal dysplasia' SubClassOf 'hyperostosis' 'craniodiaphyseal dysplasia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010011 schizencephaly 'schizencephaly' SubClassOf 'encephaloclastic disorder' 'schizencephaly' SubClassOf 'congenital nervous system disorder' 'schizencephaly' SubClassOf 'encephaloclastic disorder' 'schizencephaly' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010014 craniometadiaphyseal dysplasia, wormian bone type 'craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'skeletal dysplasia' 'craniometadiaphyseal dysplasia, wormian bone type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010013 schneckenbecken dysplasia 'schneckenbecken dysplasia' SubClassOf 'osteochondrodysplasia' 'schneckenbecken dysplasia' SubClassOf 'severe spondylodysplastic dysplasia' 'schneckenbecken dysplasia' SubClassOf 'osteochondrodysplasia' 'schneckenbecken dysplasia' SubClassOf 'severe spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0010016 sclerosteosis 1 'sclerosteosis 1' SubClassOf 'sclerosteosis' 'sclerosteosis 1' SubClassOf 'sclerosteosis' http://purl.obolibrary.org/obo/MONDO_0010015 anterior segment dysgenesis 7 'anterior segment dysgenesis 7' SubClassOf 'anterior segment dysgenesis' 'anterior segment dysgenesis 7' SubClassOf 'sclerocornea' 'anterior segment dysgenesis 7' SubClassOf 'anterior segment dysgenesis' 'anterior segment dysgenesis 7' SubClassOf 'sclerocornea' http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis 'urolithiasis' SubClassOf 'urinary system disease' 'urolithiasis' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0024649 optic tract astrocytoma 'optic tract astrocytoma' SubClassOf 'optic pathway glioma' 'optic tract astrocytoma' SubClassOf 'optic pathway glioma' http://purl.obolibrary.org/obo/MONDO_0024673 skin lymphangioma 'skin lymphangioma' SubClassOf 'lymphangioma' 'skin lymphangioma' SubClassOf 'lymphangioma' http://purl.obolibrary.org/obo/MONDO_0024675 adult kidney Wilms tumor 'adult kidney Wilms tumor' SubClassOf 'kidney Wilms tumor' 'adult kidney Wilms tumor' SubClassOf 'kidney Wilms tumor' http://purl.obolibrary.org/obo/MONDO_0024677 pancreatic insulinoma 'pancreatic insulinoma' SubClassOf 'functional pancreatic neuroendocrine tumor' 'pancreatic insulinoma' SubClassOf 'disease has location' some 'insulin secreting cell' 'pancreatic insulinoma' SubClassOf 'insulinoma' 'pancreatic insulinoma' SubClassOf 'functional pancreatic neuroendocrine tumor' 'pancreatic insulinoma' SubClassOf 'disease has location' some 'insulin secreting cell' 'pancreatic insulinoma' SubClassOf 'insulinoma' http://purl.obolibrary.org/obo/MONDO_0010029 situs inversus 'situs inversus' SubClassOf 'visceral heterotaxy' 'situs inversus' SubClassOf 'visceral heterotaxy' http://purl.obolibrary.org/obo/MONDO_0009039 Baller-Gerold syndrome 'Baller-Gerold syndrome' SubClassOf 'syndromic craniosynostosis' 'Baller-Gerold syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0010028 sialuria 'sialuria' SubClassOf 'disorder of sialic acid metabolism' 'sialuria' SubClassOf 'disorder of sialic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009038 craniosynostosis-fibular aplasia syndrome 'craniosynostosis-fibular aplasia syndrome' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis-fibular aplasia syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0009036 cardiocranial syndrome, Pfeiffer type 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'syndromic craniosynostosis' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'syndromic craniosynostosis' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009035 craniometaphyseal dysplasia, autosomal recessive 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'craniometaphyseal dysplasia' 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'craniometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009034 craniofacial dyssynostosis 'craniofacial dyssynostosis' SubClassOf 'disorder of development or morphogenesis' 'craniofacial dyssynostosis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009033 temtamy syndrome 'temtamy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'temtamy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009043 generalized resistance to thyroid hormone 'generalized resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' 'generalized resistance to thyroid hormone' SubClassOf 'hyperthyroidism' 'generalized resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' 'generalized resistance to thyroid hormone' SubClassOf 'hyperthyroidism' http://purl.obolibrary.org/obo/MONDO_0009042 craniotelencephalic dysplasia 'craniotelencephalic dysplasia' SubClassOf 'syndromic craniosynostosis' 'craniotelencephalic dysplasia' SubClassOf 'lissencephaly spectrum disorders' 'craniotelencephalic dysplasia' SubClassOf 'syndromic craniosynostosis' 'craniotelencephalic dysplasia' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0010020 congenital generalized lipodystrophy type 2 'congenital generalized lipodystrophy type 2' SubClassOf 'congenital generalized lipodystrophy' 'congenital generalized lipodystrophy type 2' SubClassOf 'Berardinelli-Seip congenital lipodystrophy' 'congenital generalized lipodystrophy type 2' SubClassOf 'congenital generalized lipodystrophy' 'congenital generalized lipodystrophy type 2' SubClassOf 'Berardinelli-Seip congenital lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency 'combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0010024 Beemer-Langer syndrome 'Beemer-Langer syndrome' SubClassOf 'Jeune syndrome' 'Beemer-Langer syndrome' SubClassOf 'Jeune syndrome' http://purl.obolibrary.org/obo/MONDO_0010027 free sialic acid storage disease, infantile form 'free sialic acid storage disease, infantile form' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'free sialic acid storage disease, infantile form' SubClassOf 'free sialic acid storage disease' 'free sialic acid storage disease, infantile form' SubClassOf 'lysosomal storage disease with skeletal involvement' 'free sialic acid storage disease, infantile form' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'free sialic acid storage disease, infantile form' SubClassOf 'free sialic acid storage disease' 'free sialic acid storage disease, infantile form' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0010026 SHORT syndrome 'SHORT syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'SHORT syndrome' SubClassOf 'syndromic disease' 'SHORT syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'SHORT syndrome' SubClassOf 'hereditary lipodystrophy' 'SHORT syndrome' SubClassOf 'eye disease' 'SHORT syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'SHORT syndrome' SubClassOf 'syndromic disease' 'SHORT syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'SHORT syndrome' SubClassOf 'hereditary lipodystrophy' 'SHORT syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0024662 colorectal tubulovillous adenoma 'colorectal tubulovillous adenoma' SubClassOf 'colorectal adenoma' 'colorectal tubulovillous adenoma' EquivalentTo 'tubulovillous adenoma' and 'colorectal adenoma' 'colorectal tubulovillous adenoma' SubClassOf 'tubulovillous adenoma' 'colorectal tubulovillous adenoma' SubClassOf 'colorectal adenoma' 'colorectal tubulovillous adenoma' EquivalentTo 'tubulovillous adenoma' and 'colorectal adenoma' 'colorectal tubulovillous adenoma' SubClassOf 'tubulovillous adenoma' http://purl.obolibrary.org/obo/MONDO_0024661 tubulovillous adenoma 'tubulovillous adenoma' SubClassOf 'adenoma' 'tubulovillous adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0024664 hypertension, pregnancy-induced 'hypertension, pregnancy-induced' SubClassOf 'hypertension' 'hypertension, pregnancy-induced' SubClassOf 'pregnancy disorder' 'hypertension, pregnancy-induced' SubClassOf 'hypertension' 'hypertension, pregnancy-induced' SubClassOf 'pregnancy disorder' http://purl.obolibrary.org/obo/MONDO_0024666 benign epithelial skin neoplasm 'benign epithelial skin neoplasm' SubClassOf 'benign neoplasm of skin' 'benign epithelial skin neoplasm' SubClassOf 'epithelial skin neoplasm' 'benign epithelial skin neoplasm' SubClassOf 'benign neoplasm of skin' 'benign epithelial skin neoplasm' SubClassOf 'epithelial skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0024665 indeterminate sex and/or pseudohermaphroditism 'indeterminate sex and/or pseudohermaphroditism' SubClassOf 'disorder of sexual differentiation' 'indeterminate sex and/or pseudohermaphroditism' SubClassOf 'disorder of sexual differentiation' http://purl.obolibrary.org/obo/MONDO_0010039 congenital heart defect-round face-developmental delay syndrome 'congenital heart defect-round face-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'congenital heart defect-round face-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome 'Fraser syndrome' SubClassOf 'cryptophthalmia' 'Fraser syndrome' SubClassOf 'syndromic disease' 'Fraser syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fraser syndrome' SubClassOf 'autosomal recessive disease' 'Fraser syndrome' SubClassOf 'cryptophthalmia' 'Fraser syndrome' SubClassOf 'syndromic disease' 'Fraser syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fraser syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009045 cataract-nephropathy-encephalopathy syndrome 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'syndromic disease' 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0024660 tubular adenoma 'tubular adenoma' SubClassOf 'adenoma' 'tubular adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0009044 Crigler-Najjar syndrome 'Crigler-Najjar syndrome' SubClassOf 'syndromic disease' 'Crigler-Najjar syndrome' SubClassOf 'hereditary hyperbilirubinemia' 'Crigler-Najjar syndrome' SubClassOf 'syndromic disease' 'Crigler-Najjar syndrome' SubClassOf 'hereditary hyperbilirubinemia' http://purl.obolibrary.org/obo/MONDO_0009054 autosomal recessive cutis laxa type 2, classic type 'autosomal recessive cutis laxa type 2, classic type' SubClassOf 'inherited cutis laxa' 'autosomal recessive cutis laxa type 2, classic type' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0009053 ALDH18A1-related de Barsy syndrome 'ALDH18A1-related de Barsy syndrome' SubClassOf 'inherited cutis laxa' 'ALDH18A1-related de Barsy syndrome' SubClassOf 'de Barsy syndrome' 'ALDH18A1-related de Barsy syndrome' SubClassOf 'P5CS deficiency' 'ALDH18A1-related de Barsy syndrome' SubClassOf 'inherited cutis laxa' 'ALDH18A1-related de Barsy syndrome' SubClassOf 'de Barsy syndrome' 'ALDH18A1-related de Barsy syndrome' SubClassOf 'P5CS deficiency' http://purl.obolibrary.org/obo/MONDO_0010031 Sjogren-Larsson syndrome 'Sjogren-Larsson syndrome' SubClassOf 'autosomal recessive disease' 'Sjogren-Larsson syndrome' SubClassOf 'leukodystrophy' 'Sjogren-Larsson syndrome' SubClassOf 'integumentary system disease' 'Sjogren-Larsson syndrome' SubClassOf 'autosomal recessive disease' 'Sjogren-Larsson syndrome' SubClassOf 'leukodystrophy' 'Sjogren-Larsson syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0009052 cutis laxa, autosomal recessive, type 1A 'cutis laxa, autosomal recessive, type 1A' SubClassOf 'autosomal recessive cutis laxa type 1' 'cutis laxa, autosomal recessive, type 1A' SubClassOf 'autosomal recessive cutis laxa type 1' http://purl.obolibrary.org/obo/MONDO_0010033 generalized peeling skin syndrome 'generalized peeling skin syndrome' SubClassOf 'peeling skin syndrome' 'generalized peeling skin syndrome' SubClassOf 'peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0010035 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Smith-Lemli-Opitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010038 growth delay due to insulin-like growth factor I resistance 'growth delay due to insulin-like growth factor I resistance' SubClassOf 'growth hormone insensitivity syndrome' 'growth delay due to insulin-like growth factor I resistance' SubClassOf 'growth hormone insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0009058 cystathioninuria 'cystathioninuria' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'cystathioninuria' SubClassOf 'inborn disorder of amino acid metabolism' 'cystathioninuria' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'cystathioninuria' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0010043 hereditary spastic paraplegia 17 'hereditary spastic paraplegia 17' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'hereditary spastic paraplegia 17' SubClassOf 'autosomal dominant complex spastic paraplegia' 'hereditary spastic paraplegia 17' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'hereditary spastic paraplegia 17' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009064 ocular cystinosis 'ocular cystinosis' SubClassOf 'inborn disorder of amino acid transport' 'ocular cystinosis' SubClassOf 'cystinosis' 'ocular cystinosis' SubClassOf 'inborn disorder of amino acid transport' 'ocular cystinosis' SubClassOf 'cystinosis' http://purl.obolibrary.org/obo/MONDO_0009063 ventriculomegaly-cystic kidney disease 'ventriculomegaly-cystic kidney disease' SubClassOf 'genetic disorder' 'ventriculomegaly-cystic kidney disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009062 cystic fibrosis-gastritis-megaloblastic anemia syndrome 'cystic fibrosis-gastritis-megaloblastic anemia syndrome' SubClassOf 'syndromic disease' 'cystic fibrosis-gastritis-megaloblastic anemia syndrome' SubClassOf 'genetic disorder' 'cystic fibrosis-gastritis-megaloblastic anemia syndrome' SubClassOf 'syndromic disease' 'cystic fibrosis-gastritis-megaloblastic anemia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010044 hereditary spastic paraplegia 15 'hereditary spastic paraplegia 15' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 15' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis 'cystic fibrosis' SubClassOf 'autosomal recessive disease' 'cystic fibrosis' SubClassOf 'respiratory system disease' 'cystic fibrosis' SubClassOf 'autosomal recessive disease' 'cystic fibrosis' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010047 hereditary spastic paraplegia 5A 'hereditary spastic paraplegia 5A' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 5A' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010046 hereditary spastic paraplegia 23 'hereditary spastic paraplegia 23' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 23' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010049 spastic paraplegia-glaucoma-intellectual disability syndrome 'spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf 'complex hereditary spastic paraplegia' 'spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010041 Charlevoix-Saguenay spastic ataxia 'Charlevoix-Saguenay spastic ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' 'Charlevoix-Saguenay spastic ataxia' SubClassOf 'autosomal recessive spastic ataxia' 'Charlevoix-Saguenay spastic ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' 'Charlevoix-Saguenay spastic ataxia' SubClassOf 'autosomal recessive spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability 'ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability' SubClassOf 'genetic disorder' 'ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0024686 tenosynovial giant cell tumor, diffuse type 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'Tenosynovial Giant Cell Tumor' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'benign synovial neoplasm' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'rheumatic disease' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'synovitis' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'Tenosynovial Giant Cell Tumor' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'benign synovial neoplasm' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'rheumatic disease' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'synovitis' http://purl.obolibrary.org/obo/MONDO_0009069 congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 'congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'Leigh syndrome' 'congenital lactic acidosis, Saguenay-Lac-Saint-Jean type' SubClassOf 'Leigh syndrome' http://purl.obolibrary.org/obo/MONDO_0009068 cytochrome-c oxidase deficiency disease 'cytochrome-c oxidase deficiency disease' SubClassOf 'mitochondrial complex deficiency' 'cytochrome-c oxidase deficiency disease' SubClassOf 'mitochondrial complex deficiency' http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria 'cystinuria' SubClassOf 'inherited renal tubular disease' 'cystinuria' SubClassOf 'inborn disorder of amino acid transport' 'cystinuria' SubClassOf 'syndromic disease' 'cystinuria' SubClassOf 'inherited renal tubular disease' 'cystinuria' SubClassOf 'inborn disorder of amino acid transport' 'cystinuria' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009066 juvenile nephropathic cystinosis 'juvenile nephropathic cystinosis' SubClassOf 'nephropathic cystinosis' 'juvenile nephropathic cystinosis' SubClassOf 'inborn disorder of amino acid transport' 'juvenile nephropathic cystinosis' SubClassOf 'nephropathic cystinosis' 'juvenile nephropathic cystinosis' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0009075 Dandy-Walker malformation-postaxial polydactyly syndrome 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010053 hereditary spherocytosis type 3 'hereditary spherocytosis type 3' SubClassOf 'hereditary spherocytosis' 'hereditary spherocytosis type 3' SubClassOf 'hereditary spherocytosis' http://purl.obolibrary.org/obo/MONDO_0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010056 spinal muscular atrophy, type IV 'spinal muscular atrophy, type IV' SubClassOf 'proximal spinal muscular atrophy' 'spinal muscular atrophy, type IV' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009073 Ritscher-Schinzel syndrome 1 'Ritscher-Schinzel syndrome 1' SubClassOf 'Ritscher-Schinzel syndrome' 'Ritscher-Schinzel syndrome 1' SubClassOf 'Ritscher-Schinzel syndrome' http://purl.obolibrary.org/obo/MONDO_0009071 hereditary renal hypouricemia 'hereditary renal hypouricemia' SubClassOf 'inherited renal tubular disease' 'hereditary renal hypouricemia' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0009070 D-glyceric aciduria 'D-glyceric aciduria' SubClassOf 'disorder of galactose and fructose metabolism' 'D-glyceric aciduria' SubClassOf 'disorder of galactose and fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'genetic disorder' 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'syndromic disease' 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'genetic disorder' 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009079 DOORS syndrome 'DOORS syndrome' SubClassOf 'syndromic disease' 'DOORS syndrome' SubClassOf 'genetic disorder' 'DOORS syndrome' SubClassOf 'syndromic disease' 'DOORS syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009086 deafness-small bowel diverticulosis-neuropathy syndrome 'deafness-small bowel diverticulosis-neuropathy syndrome' SubClassOf 'genetic disorder' 'deafness-small bowel diverticulosis-neuropathy syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010064 spastic ataxia-corneal dystrophy syndrome 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'autosomal recessive spastic ataxia' 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'disorder of visual system' 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'syndromic disease' 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'autosomal recessive spastic ataxia' 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'disorder of visual system' 'spastic ataxia-corneal dystrophy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009085 deafness-vitiligo-achalasia syndrome 'deafness-vitiligo-achalasia syndrome' SubClassOf 'genetic disorder' 'deafness-vitiligo-achalasia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009084 conductive deafness-ptosis-skeletal anomalies syndrome 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf 'disease has major feature' some 'Conductive hearing impairment' 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Conductive hearing impairment' 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010066 familial isolated congenital asplenia 'familial isolated congenital asplenia' SubClassOf 'inborn error of immunity' 'familial isolated congenital asplenia' SubClassOf 'disorder of development or morphogenesis' 'familial isolated congenital asplenia' SubClassOf 'inborn error of immunity' 'familial isolated congenital asplenia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'dysostosis' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'reproductive system disease' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'genetic disorder' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic disease' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'dysostosis' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'reproductive system disease' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'genetic disorder' 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009082 high myopia-sensorineural deafness syndrome 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic disease' 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010068 spondyloepimetaphyseal dysplasia, sponastrime type 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009080 split hand-foot malformation 1 with sensorineural hearing loss 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'disease has major feature' some 'Ectrodactyly' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'skeletal dysplasia' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Ectrodactyly' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010061 autosomal recessive cerebellar ataxia-blindness-deafness syndrome 'autosomal recessive cerebellar ataxia-blindness-deafness syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' 'autosomal recessive cerebellar ataxia-blindness-deafness syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010060 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 'mitochondrial DNA depletion syndrome 7 (hepatocerebral type)' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'mitochondrial DNA depletion syndrome 7 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome 7 (hepatocerebral type)' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'mitochondrial DNA depletion syndrome 7 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' http://purl.obolibrary.org/obo/MONDO_0010063 corneal-cerebellar syndrome 'corneal-cerebellar syndrome' SubClassOf 'syndromic disease' 'corneal-cerebellar syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010062 spinocerebellar ataxia-dysmorphism syndrome 'spinocerebellar ataxia-dysmorphism syndrome' SubClassOf 'hereditary ataxia' 'spinocerebellar ataxia-dysmorphism syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0009089 deafness-oligodontia syndrome 'deafness-oligodontia syndrome' SubClassOf 'disorder of development or morphogenesis' 'deafness-oligodontia syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010076 spondyloepimetaphyseal dysplasia, Irapa type 'spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009097 persistent hyperplastic primary vitreous, autosomal recessive 'persistent hyperplastic primary vitreous, autosomal recessive' SubClassOf 'persistent hyperplastic primary vitreous' 'persistent hyperplastic primary vitreous, autosomal recessive' SubClassOf 'persistent hyperplastic primary vitreous' http://purl.obolibrary.org/obo/MONDO_0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' http://purl.obolibrary.org/obo/MONDO_0010078 spondyloperipheral dysplasia 'spondyloperipheral dysplasia' SubClassOf 'type 2 collagenopathy' 'spondyloperipheral dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloperipheral dysplasia' SubClassOf 'type 2 collagenopathy' 'spondyloperipheral dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009095 dermatoosteolysis, Kirghizian type 'dermatoosteolysis, Kirghizian type' SubClassOf 'ectodermal dysplasia syndrome' 'dermatoosteolysis, Kirghizian type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009094 dermochondrocorneal dystrophy 'dermochondrocorneal dystrophy' SubClassOf 'syndromic disease' 'dermochondrocorneal dystrophy' SubClassOf 'dermis disorder' 'dermochondrocorneal dystrophy' SubClassOf 'syndromic disease' 'dermochondrocorneal dystrophy' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0010079 Canavan disease 'Canavan disease' SubClassOf 'leukodystrophy' 'Canavan disease' SubClassOf 'inborn aminoacylase deficiency' 'Canavan disease' SubClassOf 'leukodystrophy' 'Canavan disease' SubClassOf 'inborn aminoacylase deficiency' http://purl.obolibrary.org/obo/MONDO_0009092 polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'autosomal recessive disease' 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'leukodystrophy' 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'primary osteolysis' 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'autosomal recessive disease' 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'leukodystrophy' 'polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0009091 non-acquired combined pituitary hormone deficiency with spine abnormalities 'non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'non-acquired combined pituitary hormone deficiency' 'non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'combined pituitary hormone deficiencies, genetic form' 'non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'non-acquired combined pituitary hormone deficiency' 'non-acquired combined pituitary hormone deficiency with spine abnormalities' SubClassOf 'combined pituitary hormone deficiencies, genetic form' http://purl.obolibrary.org/obo/MONDO_0009090 hearing loss, sensorineural, autosomal-mitochondrial type 'hearing loss, sensorineural, autosomal-mitochondrial type' SubClassOf 'mitochondrial non-syndromic sensorineural hearing loss' 'hearing loss, sensorineural, autosomal-mitochondrial type' SubClassOf 'mitochondrial non-syndromic sensorineural hearing loss' http://purl.obolibrary.org/obo/MONDO_0010070 brachyolmia type 1, Hobaek type 'brachyolmia type 1, Hobaek type' SubClassOf 'autosomal recessive brachyolmia' 'brachyolmia type 1, Hobaek type' SubClassOf 'autosomal recessive brachyolmia' http://purl.obolibrary.org/obo/MONDO_0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive 'spondyloepiphyseal dysplasia tarda, autosomal recessive' SubClassOf 'spondyloepiphyseal dysplasia tarda' 'spondyloepiphyseal dysplasia tarda, autosomal recessive' SubClassOf 'spondyloepiphyseal dysplasia tarda' http://purl.obolibrary.org/obo/MONDO_0010074 brachyolmia type 1, toledo type 'brachyolmia type 1, toledo type' SubClassOf 'autosomal recessive brachyolmia' 'brachyolmia type 1, toledo type' SubClassOf 'autosomal recessive brachyolmia' http://purl.obolibrary.org/obo/MONDO_0010073 spondyloepiphyseal dysplasia tarda, Kohn type 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'spondyloepiphyseal dysplasia tarda' 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'spondyloepiphyseal dysplasia tarda' http://purl.obolibrary.org/obo/MONDO_0034022 Bethlem myopathy 2 'Bethlem myopathy 2' SubClassOf 'Ehlers-Danlos syndrome' 'Bethlem myopathy 2' SubClassOf 'Bethlem myopathy' 'Bethlem myopathy 2' SubClassOf 'Ehlers-Danlos syndrome' 'Bethlem myopathy 2' SubClassOf 'Bethlem myopathy' http://purl.obolibrary.org/obo/MONDO_0024497 tumor grade 3 or 4, general grading system 'tumor grade 3 or 4, general grading system' SubClassOf 'general tumor grading characteristic' 'tumor grade 3 or 4, general grading system' SubClassOf 'general tumor grading characteristic' http://purl.obolibrary.org/obo/MONDO_0024496 tumor grade 2 or 3, general grading system 'tumor grade 2 or 3, general grading system' SubClassOf 'general tumor grading characteristic' 'tumor grade 2 or 3, general grading system' SubClassOf 'general tumor grading characteristic' http://purl.obolibrary.org/obo/MONDO_0024499 vascular bone neoplasm 'vascular bone neoplasm' SubClassOf 'vascular neoplasm' 'vascular bone neoplasm' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0024498 glioma susceptibility 1 'glioma susceptibility 1' SubClassOf 'glioma susceptibility' 'glioma susceptibility 1' SubClassOf 'glioma susceptibility' http://purl.obolibrary.org/obo/MONDO_0024489 general tumor grading characteristic 'general tumor grading characteristic' SubClassOf 'tumor grading characteristic' 'general tumor grading characteristic' SubClassOf 'tumor grading characteristic' http://purl.obolibrary.org/obo/MONDO_0024482 eccrine sweat gland hamartoma 'eccrine sweat gland hamartoma' SubClassOf 'hamartoma of skin appendage' 'eccrine sweat gland hamartoma' SubClassOf 'hamartoma of skin appendage' http://purl.obolibrary.org/obo/MONDO_0024483 urothelial hyperplasia 'urothelial hyperplasia' SubClassOf 'hyperplasia' 'urothelial hyperplasia' SubClassOf 'hyperplasia' http://purl.obolibrary.org/obo/GO_0006744 ubiquinone biosynthetic process 'ubiquinone biosynthetic process' SubClassOf 'organic substance biosynthetic process' http://purl.obolibrary.org/obo/GO_0006629 lipid metabolic process 'lipid metabolic process' SubClassOf 'organic substance metabolic process' http://purl.obolibrary.org/obo/MONDO_0000503 lung adenocarcinoma in situ 'lung adenocarcinoma in situ' SubClassOf 'lung carcinoma in situ' 'lung adenocarcinoma in situ' SubClassOf 'adenocarcinoma in situ' 'lung adenocarcinoma in situ' SubClassOf 'lung adenocarcinoma' 'lung adenocarcinoma in situ' SubClassOf 'lung carcinoma in situ' 'lung adenocarcinoma in situ' SubClassOf 'adenocarcinoma in situ' 'lung adenocarcinoma in situ' SubClassOf 'lung adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0000502 villous adenoma 'villous adenoma' SubClassOf 'adenoma' 'villous adenoma' SubClassOf 'glandular cell neoplasm' 'villous adenoma' SubClassOf 'adenoma' 'villous adenoma' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'hereditary inclusion-body myopathy' 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'frontotemporal dementia' 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'syndromic disease' 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'hereditary inclusion-body myopathy' 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'syndromic disease' 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' SubClassOf 'frontotemporal dementia' http://purl.obolibrary.org/obo/MONDO_0000515 bone chondrosarcoma 'bone chondrosarcoma' SubClassOf 'chondrosarcoma' 'bone chondrosarcoma' SubClassOf 'chondrosarcoma' http://purl.obolibrary.org/obo/MONDO_0000514 bone squamous cell carcinoma 'bone squamous cell carcinoma' SubClassOf 'bone carcinoma' 'bone squamous cell carcinoma' SubClassOf 'bone carcinoma' http://purl.obolibrary.org/obo/MONDO_0000513 bone ameloblastoma 'bone ameloblastoma' SubClassOf 'bone benign neoplasm' 'bone ameloblastoma' SubClassOf 'bone benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000517 brain stem medulloblastoma 'brain stem medulloblastoma' SubClassOf 'medulloblastoma' 'brain stem medulloblastoma' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/MONDO_0000521 salivary gland carcinoma 'salivary gland carcinoma' SubClassOf 'salivary gland cancer' 'salivary gland carcinoma' SubClassOf 'salivary gland cancer' http://purl.obolibrary.org/obo/MONDO_0000527 colon adenoma 'colon adenoma' SubClassOf 'colorectal adenoma' 'colon adenoma' SubClassOf 'colorectal adenoma' http://purl.obolibrary.org/obo/MONDO_0000524 mixed extragonadal germ cell cancer 'mixed extragonadal germ cell cancer' SubClassOf 'mixed germ cell tumor' 'mixed extragonadal germ cell cancer' SubClassOf 'mixed germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0000530 rectum adenoma 'rectum adenoma' SubClassOf 'colorectal adenoma' 'rectum adenoma' SubClassOf 'colorectal adenoma' http://purl.obolibrary.org/obo/MONDO_0000534 trachea mucoepidermoid carcinoma 'trachea mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'trachea mucoepidermoid carcinoma' SubClassOf 'Tracheal Carcinoma' 'trachea mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'trachea mucoepidermoid carcinoma' SubClassOf 'Tracheal Carcinoma' http://purl.obolibrary.org/obo/MONDO_0000532 lung combined type small cell adenocarcinoma 'lung combined type small cell adenocarcinoma' SubClassOf 'combined small cell lung carcinoma' 'lung combined type small cell adenocarcinoma' SubClassOf 'combined small cell lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0000531 bronchus mucoepidermoid carcinoma 'bronchus mucoepidermoid carcinoma' SubClassOf 'bronchogenic carcinoma' 'bronchus mucoepidermoid carcinoma' SubClassOf 'bronchogenic carcinoma' http://purl.obolibrary.org/obo/MONDO_0000540 small intestinal neuroendocrine tumor G1 'small intestinal neuroendocrine tumor G1' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' 'small intestinal neuroendocrine tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' 'small intestinal neuroendocrine tumor G1' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' 'small intestinal neuroendocrine tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' http://purl.obolibrary.org/obo/MONDO_0024512 spondyloarthropathy, susceptibility to 'spondyloarthropathy, susceptibility to' SubClassOf 'predisposes towards' some 'spondyloarthropathy' 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'spondyloarthropathy') 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'spondyloarthropathy') 'spondyloarthropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'spondyloarthropathy' http://purl.obolibrary.org/obo/MONDO_0000544 mucosal melanoma 'mucosal melanoma' SubClassOf 'Non-Cutaneous Melanoma' 'mucosal melanoma' SubClassOf 'Non-Cutaneous Melanoma' http://purl.obolibrary.org/obo/GO_0006694 steroid biosynthetic process 'steroid biosynthetic process' SubClassOf 'organic cyclic compound biosynthetic process' 'steroid biosynthetic process' SubClassOf 'biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0000549 cervical neuroblastoma 'cervical neuroblastoma' SubClassOf 'extracranial neuroblastoma' 'cervical neuroblastoma' SubClassOf 'extracranial neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0024516 familial acne inversa 'familial acne inversa' SubClassOf 'hidradenitis suppurativa' 'familial acne inversa' SubClassOf 'hidradenitis suppurativa' http://purl.obolibrary.org/obo/MONDO_0000548 ovarian clear cell cancer 'ovarian clear cell cancer' SubClassOf 'ovarian clear cell tumor' 'ovarian clear cell cancer' SubClassOf 'malignant epithelial tumor of ovary' 'ovarian clear cell cancer' SubClassOf 'ovarian clear cell tumor' 'ovarian clear cell cancer' SubClassOf 'malignant epithelial tumor of ovary' http://purl.obolibrary.org/obo/MONDO_0024519 renal hypodysplasia/aplasia 1 'renal hypodysplasia/aplasia 1' SubClassOf 'renal agenesis' 'renal hypodysplasia/aplasia 1' SubClassOf 'renal agenesis' http://purl.obolibrary.org/obo/MONDO_0024501 appendix neuroendocrine neoplasm 'appendix neuroendocrine neoplasm' SubClassOf 'appendiceal neoplasm' 'appendix neuroendocrine neoplasm' SubClassOf 'appendiceal neoplasm' http://purl.obolibrary.org/obo/MONDO_0024503 digestive system neuroendocrine neoplasm 'digestive system neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'digestive system neuroendocrine neoplasm' SubClassOf 'digestive system neoplasm' 'digestive system neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'digestive system neuroendocrine neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000554 endocervical adenocarcinoma 'endocervical adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'endocervical adenocarcinoma' SubClassOf 'endocervical carcinoma' 'endocervical adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'endocervical adenocarcinoma' SubClassOf 'endocervical carcinoma' http://purl.obolibrary.org/obo/MONDO_0000553 uterine corpus endometrial carcinoma 'uterine corpus endometrial carcinoma' SubClassOf 'uterine corpus cancer' 'uterine corpus endometrial carcinoma' SubClassOf 'uterine corpus cancer' http://purl.obolibrary.org/obo/MONDO_0024502 gallbladder neuroendocrine neoplasm 'gallbladder neuroendocrine neoplasm' SubClassOf 'gallbladder neoplasm' 'gallbladder neuroendocrine neoplasm' SubClassOf 'gallbladder neoplasm' http://purl.obolibrary.org/obo/MONDO_0024531 myopathy, tubular aggregate, 1 'myopathy, tubular aggregate, 1' SubClassOf 'tubular aggregate myopathy' 'myopathy, tubular aggregate, 1' SubClassOf 'tubular aggregate myopathy' http://purl.obolibrary.org/obo/MONDO_0024534 Dowling-Degos disease 1 'Dowling-Degos disease 1' SubClassOf 'Dowling-Degos disease' 'Dowling-Degos disease 1' SubClassOf 'Dowling-Degos disease' http://purl.obolibrary.org/obo/MONDO_0024533 pulmonary hypertension, primary, 1 'pulmonary hypertension, primary, 1' SubClassOf 'heritable pulmonary arterial hypertension' 'pulmonary hypertension, primary, 1' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0000565 infective endocarditis 'infective endocarditis' SubClassOf 'endocarditis' 'infective endocarditis' SubClassOf 'endocarditis' http://purl.obolibrary.org/obo/MONDO_0024535 Singleton-Merten syndrome 1 'Singleton-Merten syndrome 1' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'Singleton-Merten syndrome 1' SubClassOf 'Singleton-Merten dysplasia' 'Singleton-Merten syndrome 1' SubClassOf 'IFIH1-related type 1 interferonopathy' 'Singleton-Merten syndrome 1' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'Singleton-Merten syndrome 1' SubClassOf 'Singleton-Merten dysplasia' 'Singleton-Merten syndrome 1' SubClassOf 'IFIH1-related type 1 interferonopathy' http://www.ebi.ac.uk/efo/EFO_1002003 hypersensitivity reaction disease 'hypersensitivity reaction disease' SubClassOf 'immune system disease' 'hypersensitivity reaction disease' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_1002000 Takotsubo cardiomyopathy 'Takotsubo cardiomyopathy' SubClassOf 'cardiomyopathy' 'Takotsubo cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1002008 atypical teratoid rhabdoid tumor 'atypical teratoid rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' 'atypical teratoid rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' http://purl.obolibrary.org/obo/MONDO_0024537 Brown-Vialetto-van Laere syndrome 1 'Brown-Vialetto-van Laere syndrome 1' SubClassOf 'riboflavin transporter deficiency' 'Brown-Vialetto-van Laere syndrome 1' SubClassOf 'riboflavin transporter deficiency' http://purl.obolibrary.org/obo/MONDO_0000569 autoimmune disorder of endocrine system 'autoimmune disorder of endocrine system' SubClassOf 'endocrine system disease' 'autoimmune disorder of endocrine system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of endocrine system' SubClassOf 'endocrine system disease' 'autoimmune disorder of endocrine system' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0024539 choroidal dystrophy, central areolar, 1 'choroidal dystrophy, central areolar, 1' SubClassOf 'central areolar choroidal dystrophy' 'choroidal dystrophy, central areolar, 1' SubClassOf 'GUCY2D-related dominant retinopathy' 'choroidal dystrophy, central areolar, 1' SubClassOf 'central areolar choroidal dystrophy' 'choroidal dystrophy, central areolar, 1' SubClassOf 'GUCY2D-related dominant retinopathy' http://purl.obolibrary.org/obo/MONDO_0000573 recombinase activating gene 2 deficiency 'recombinase activating gene 2 deficiency' SubClassOf 'severe combined immunodeficiency' 'recombinase activating gene 2 deficiency' SubClassOf 'severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0000572 recombinase activating gene 1 deficiency 'recombinase activating gene 1 deficiency' SubClassOf 'severe combined immunodeficiency' 'recombinase activating gene 1 deficiency' SubClassOf 'severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0024521 aortic aneurysm, familial abdominal, 1 'aortic aneurysm, familial abdominal, 1' SubClassOf 'familial abdominal aortic aneurysm' 'aortic aneurysm, familial abdominal, 1' SubClassOf 'familial abdominal aortic aneurysm' http://purl.obolibrary.org/obo/MONDO_0000577 congenital anemia 'congenital anemia' SubClassOf 'congenital hematological disorder' 'congenital anemia' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0024522 amyloidosis, primary localized cutaneous, 1 'amyloidosis, primary localized cutaneous, 1' SubClassOf 'familial primary localized cutaneous amyloidosis' 'amyloidosis, primary localized cutaneous, 1' SubClassOf 'familial primary localized cutaneous amyloidosis' http://www.ebi.ac.uk/efo/EFO_1002018 bronchial disease 'bronchial disease' SubClassOf 'lower respiratory tract disease' 'bronchial disease' SubClassOf 'lower respiratory tract disease' http://www.ebi.ac.uk/efo/EFO_1002017 differentiated thyroid carcinoma 'differentiated thyroid carcinoma' SubClassOf 'thyroid carcinoma' 'differentiated thyroid carcinoma' SubClassOf 'thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_1002014 melancholia 'melancholia' SubClassOf 'depressive disorder' 'melancholia' SubClassOf 'depressive disorder' http://www.ebi.ac.uk/efo/EFO_1002013 alcoholic pancreatitis 'alcoholic pancreatitis' SubClassOf 'pancreatitis' 'alcoholic pancreatitis' SubClassOf 'alcohol-induced disorders' 'alcoholic pancreatitis' SubClassOf 'pancreatitis' 'alcoholic pancreatitis' SubClassOf 'alcohol-induced disorders' http://www.ebi.ac.uk/efo/EFO_1002019 oligoarticular juvenile idiopathic arthritis 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://purl.obolibrary.org/obo/MONDO_0024526 Zimmermann-Laband syndrome 1 'Zimmermann-Laband syndrome 1' SubClassOf 'Zimmermann-Laband syndrome' 'Zimmermann-Laband syndrome 1' SubClassOf 'KCNH1 associated disorder' 'Zimmermann-Laband syndrome 1' SubClassOf 'Zimmermann-Laband syndrome' 'Zimmermann-Laband syndrome 1' SubClassOf 'KCNH1 associated disorder' http://purl.obolibrary.org/obo/MONDO_0024528 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' http://www.ebi.ac.uk/efo/EFO_1002020 polyarticular juvenile idiopathic arthritis, rheumatoid factor negative 'polyarticular juvenile idiopathic arthritis, rheumatoid factor negative' SubClassOf 'polyarticular juvenile idiopathic arthritis' 'polyarticular juvenile idiopathic arthritis, rheumatoid factor negative' SubClassOf 'polyarticular juvenile idiopathic arthritis' http://purl.obolibrary.org/obo/MONDO_0000589 autoimmune disorder of musculoskeletal system 'autoimmune disorder of musculoskeletal system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of musculoskeletal system' SubClassOf 'musculoskeletal system disease' 'autoimmune disorder of musculoskeletal system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of musculoskeletal system' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0000588 autoimmune disorder of gastrointestinal tract 'autoimmune disorder of gastrointestinal tract' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of gastrointestinal tract' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0000587 autoimmune disease of ear, nose and throat 'autoimmune disease of ear, nose and throat' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disease of ear, nose and throat' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0000586 autoimmune disorder of exocrine system 'autoimmune disorder of exocrine system' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune disorder of exocrine system' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0024550 frontometaphyseal dysplasia 1 'frontometaphyseal dysplasia 1' SubClassOf 'frontometaphyseal dysplasia' 'frontometaphyseal dysplasia 1' SubClassOf 'frontometaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_1002023 plantar wart 'plantar wart' SubClassOf 'benign epithelial skin neoplasm' 'plantar wart' SubClassOf 'benign epithelial skin neoplasm' http://www.ebi.ac.uk/efo/EFO_1002022 Herpes simplex infection 'Herpes simplex infection' SubClassOf 'Herpesviridae infectious disease' 'Herpes simplex infection' SubClassOf 'Herpesviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0000595 sexual and gender identity disorders 'sexual and gender identity disorders' SubClassOf 'psychiatric disorder' 'sexual and gender identity disorders' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0024540 Jervell and Lange-Nielsen syndrome 1 'Jervell and Lange-Nielsen syndrome 1' SubClassOf 'Jervell and Lange-Nielsen syndrome' 'Jervell and Lange-Nielsen syndrome 1' SubClassOf 'Jervell and Lange-Nielsen syndrome' http://www.ebi.ac.uk/efo/EFO_1002031 Hodgkins lymphoma, mixed cellularity 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'classic Hodgkin lymphoma' 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'classic Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0000594 pervasive developmental disorder 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' 'pervasive developmental disorder' SubClassOf 'developmental disorder of mental health' 'pervasive developmental disorder' SubClassOf 'complex neurodevelopmental disorder' 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' 'pervasive developmental disorder' SubClassOf 'developmental disorder of mental health' 'pervasive developmental disorder' SubClassOf 'complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0024545 Miyoshi muscular dystrophy 1 'Miyoshi muscular dystrophy 1' SubClassOf 'Miyoshi myopathy' 'Miyoshi muscular dystrophy 1' SubClassOf 'Miyoshi myopathy' http://purl.obolibrary.org/obo/MONDO_0024547 pancreatic agenesis 1 'pancreatic agenesis 1' SubClassOf 'pancreatic agenesis' 'pancreatic agenesis 1' SubClassOf 'pancreatic agenesis' http://purl.obolibrary.org/obo/MONDO_0024546 hypertrophic osteoarthropathy, primary, autosomal recessive, 1 'hypertrophic osteoarthropathy, primary, autosomal recessive, 1' SubClassOf 'primary hypertrophic osteoarthropathy' 'hypertrophic osteoarthropathy, primary, autosomal recessive, 1' SubClassOf 'primary hypertrophic osteoarthropathy' http://www.ebi.ac.uk/efo/EFO_1002039 renal hypertension 'renal hypertension' SubClassOf 'kidney disease' 'renal hypertension' SubClassOf 'secondary hypertension' 'renal hypertension' SubClassOf 'kidney disease' 'renal hypertension' SubClassOf 'secondary hypertension' http://purl.obolibrary.org/obo/MONDO_0000592 specific developmental disorder 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' 'specific developmental disorder' SubClassOf 'developmental disorder of mental health' 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' 'specific developmental disorder' SubClassOf 'developmental disorder of mental health' http://purl.obolibrary.org/obo/MONDO_0000591 intrinsic cardiomyopathy 'intrinsic cardiomyopathy' SubClassOf 'cardiomyopathy' 'intrinsic cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0000590 autoimmune disorder of peripheral nervous system 'autoimmune disorder of peripheral nervous system' SubClassOf 'autoimmune disorder of the nervous system' 'autoimmune disorder of peripheral nervous system' SubClassOf 'peripheral nervous system disease' 'autoimmune disorder of peripheral nervous system' SubClassOf 'autoimmune disorder of the nervous system' 'autoimmune disorder of peripheral nervous system' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_1002034 secondary hypertension 'secondary hypertension' SubClassOf 'hypertension' 'secondary hypertension' SubClassOf 'hypertension' http://purl.obolibrary.org/obo/MONDO_0024548 peeling skin syndrome 1 'peeling skin syndrome 1' SubClassOf 'generalized peeling skin syndrome' 'peeling skin syndrome 1' SubClassOf 'generalized peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0024574 von Willebrand disease (hereditary or acquired) 'von Willebrand disease (hereditary or acquired)' SubClassOf 'coagulation protein disease' 'von Willebrand disease (hereditary or acquired)' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy 'familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' 'familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1002049 glomerular disease 'glomerular disease' SubClassOf 'kidney disease' 'glomerular disease' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1002048 kidney failure 'kidney failure' SubClassOf 'kidney disease' 'kidney failure' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0024570 hyperparathyroidism 4 'hyperparathyroidism 4' SubClassOf 'familial isolated hyperparathyroidism' 'hyperparathyroidism 4' SubClassOf 'abnormal mineralization disorder' 'hyperparathyroidism 4' SubClassOf 'familial isolated hyperparathyroidism' 'hyperparathyroidism 4' SubClassOf 'abnormal mineralization disorder' http://www.ebi.ac.uk/efo/EFO_1002047 spotted fever 'spotted fever' SubClassOf 'vector-borne disease' 'spotted fever' SubClassOf 'vector-borne disease' http://purl.obolibrary.org/obo/MONDO_0024562 sick sinus syndrome 1 'sick sinus syndrome 1' SubClassOf 'familial sick sinus syndrome' 'sick sinus syndrome 1' SubClassOf 'familial sick sinus syndrome' http://www.ebi.ac.uk/efo/EFO_1002051 facial nerve disease 'facial nerve disease' SubClassOf 'cranial nerve neuropathy' 'facial nerve disease' SubClassOf 'peripheral nervous system disease' 'facial nerve disease' SubClassOf 'cranial nerve neuropathy' 'facial nerve disease' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_1002050 nephritis 'nephritis' SubClassOf 'inflammatory disease' 'nephritis' SubClassOf 'kidney disease' 'nephritis' SubClassOf 'inflammatory disease' 'nephritis' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0024567 hypotonia, infantile, with psychomotor retardation and characteristic facies 1 'hypotonia, infantile, with psychomotor retardation and characteristic facies 1' SubClassOf 'hypotonia, infantile, with psychomotor retardation and characteristic facies' 'hypotonia, infantile, with psychomotor retardation and characteristic facies 1' SubClassOf 'hypotonia, infantile, with psychomotor retardation and characteristic facies' http://purl.obolibrary.org/obo/MONDO_0024568 infantile liver failure syndrome 1 'infantile liver failure syndrome 1' SubClassOf 'infantile liver failure' 'infantile liver failure syndrome 1' SubClassOf 'infantile liver failure' http://purl.obolibrary.org/obo/MONDO_0024582 male reproductive system neoplasm 'male reproductive system neoplasm' SubClassOf 'reproductive system neoplasm' 'male reproductive system neoplasm' SubClassOf 'male reproductive system disease' 'male reproductive system neoplasm' SubClassOf 'reproductive system neoplasm' 'male reproductive system neoplasm' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0007203 cervicofacial actinomycosis 'cervicofacial actinomycosis' SubClassOf 'actinomycosis' 'cervicofacial actinomycosis' SubClassOf 'actinomycosis' http://www.ebi.ac.uk/efo/EFO_0007202 cervical incompetence 'cervical incompetence' SubClassOf 'cervix disorder' 'cervical incompetence' SubClassOf 'cervix disorder' http://www.ebi.ac.uk/efo/EFO_0007200 cerebral toxoplasmosis 'cerebral toxoplasmosis' SubClassOf 'toxoplasmosis' 'cerebral toxoplasmosis' SubClassOf 'toxoplasmosis' http://www.ebi.ac.uk/efo/EFO_0007207 chromoblastomycosis 'chromoblastomycosis' SubClassOf 'subcutaneous mycosis' 'chromoblastomycosis' SubClassOf 'dermatomycosis' 'chromoblastomycosis' SubClassOf 'subcutaneous mycosis' 'chromoblastomycosis' SubClassOf 'dermatomycosis' http://www.ebi.ac.uk/efo/EFO_0007206 choroid plexus cancer 'choroid plexus cancer' SubClassOf 'choroid plexus neoplasm' 'choroid plexus cancer' SubClassOf 'choroid plexus neoplasm' http://www.ebi.ac.uk/efo/EFO_0007205 Chlamydia trachomatis infectious disease 'Chlamydia trachomatis infectious disease' SubClassOf 'commensal bacterial infectious disease' 'Chlamydia trachomatis infectious disease' SubClassOf 'commensal bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007204 chickenpox 'chickenpox' SubClassOf 'Varicella Zoster infection' 'chickenpox' SubClassOf 'Varicella Zoster infection' http://www.ebi.ac.uk/efo/EFO_0007209 Ciliophora infectious disease 'Ciliophora infectious disease' SubClassOf 'infectious disease' 'Ciliophora infectious disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0007208 Churg-Strauss syndrome 'Churg-Strauss syndrome' SubClassOf 'Granulomatosis with Polyangiitis' 'Churg-Strauss syndrome' SubClassOf 'syndromic disease' 'Churg-Strauss syndrome' SubClassOf 'Granulomatosis with Polyangiitis' 'Churg-Strauss syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0024361 circadian rhythm sleep disorder 'circadian rhythm sleep disorder' SubClassOf 'sleep-wake disorder' 'circadian rhythm sleep disorder' SubClassOf 'sleep-wake disorder' http://purl.obolibrary.org/obo/MONDO_0024363 rapid eye movement sleep disorder 'rapid eye movement sleep disorder' SubClassOf 'circadian rhythm sleep disorder' 'rapid eye movement sleep disorder' SubClassOf 'circadian rhythm sleep disorder' http://www.ebi.ac.uk/efo/EFO_0007221 contagious pleuropneumonia 'contagious pleuropneumonia' SubClassOf 'pneumonia' 'contagious pleuropneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007220 congenital toxoplasmosis 'congenital toxoplasmosis' SubClassOf 'central nervous system infection' 'congenital toxoplasmosis' SubClassOf 'infectious embryofetopathy' 'congenital toxoplasmosis' SubClassOf 'toxoplasmosis' 'congenital toxoplasmosis' SubClassOf 'central nervous system infection' 'congenital toxoplasmosis' SubClassOf 'infectious embryofetopathy' 'congenital toxoplasmosis' SubClassOf 'toxoplasmosis' http://www.ebi.ac.uk/efo/EFO_0007222 contagious pustular dermatitis 'contagious pustular dermatitis' SubClassOf 'viral disease' 'contagious pustular dermatitis' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007229 cryptococcosis 'cryptococcosis' SubClassOf 'opportunistic mycosis' 'cryptococcosis' SubClassOf 'parasitic infection' 'cryptococcosis' SubClassOf 'opportunistic mycosis' 'cryptococcosis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0007228 cryptococcal meningitis 'cryptococcal meningitis' SubClassOf 'fungal meningitis' 'cryptococcal meningitis' SubClassOf 'fungal meningitis' http://purl.obolibrary.org/obo/MONDO_0024392 anaerobic balanitis 'anaerobic balanitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic balanitis' SubClassOf 'anaerobic bacteria infectious disease' http://www.ebi.ac.uk/efo/EFO_0007227 croup 'croup' SubClassOf 'acute laryngitis' 'croup' SubClassOf 'acute laryngitis' http://purl.obolibrary.org/obo/MONDO_0024387 benign ovarian sex cord-stromal tumor 'benign ovarian sex cord-stromal tumor' SubClassOf 'Benign Ovarian Neoplasm' 'benign ovarian sex cord-stromal tumor' SubClassOf 'ovarian sex cord-stromal tumor' 'benign ovarian sex cord-stromal tumor' SubClassOf 'Benign Ovarian Neoplasm' 'benign ovarian sex cord-stromal tumor' SubClassOf 'ovarian sex cord-stromal tumor' http://www.ebi.ac.uk/efo/EFO_0007210 clonorchiasis 'clonorchiasis' SubClassOf 'Helminthiasis' 'clonorchiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007214 common cold 'common cold' SubClassOf 'nasopharyngitis' 'common cold' SubClassOf 'nasopharyngitis' http://www.ebi.ac.uk/efo/EFO_0007213 Colorado tick fever 'Colorado tick fever' SubClassOf 'viral encephalitis' 'Colorado tick fever' SubClassOf 'viral encephalitis' http://www.ebi.ac.uk/efo/EFO_0007212 coccidiosis 'coccidiosis' SubClassOf 'protozoa infectious disease' 'coccidiosis' SubClassOf 'protozoa infectious disease' http://www.ebi.ac.uk/efo/EFO_0007211 coccidioidomycosis 'coccidioidomycosis' SubClassOf 'parasitic infection' 'coccidioidomycosis' SubClassOf 'primary systemic mycosis' 'coccidioidomycosis' SubClassOf 'parasitic infection' 'coccidioidomycosis' SubClassOf 'primary systemic mycosis' http://www.ebi.ac.uk/efo/EFO_0007218 congenital rubella 'congenital rubella' SubClassOf 'infectious embryofetopathy' 'congenital rubella' SubClassOf 'rubella' 'congenital rubella' SubClassOf 'infectious embryofetopathy' 'congenital rubella' SubClassOf 'rubella' http://www.ebi.ac.uk/efo/EFO_0007217 congenital nystagmus 'congenital nystagmus' SubClassOf 'pathologic nystagmus' 'congenital nystagmus' SubClassOf 'pathologic nystagmus' http://www.ebi.ac.uk/efo/EFO_0007216 congenital diaphragmatic hernia 'congenital diaphragmatic hernia' SubClassOf 'diaphragm disease' 'congenital diaphragmatic hernia' SubClassOf 'diaphragm disease' http://www.ebi.ac.uk/efo/EFO_0007215 composite lymphoma 'composite lymphoma' SubClassOf 'lymphoma' 'composite lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0007219 congenital syphilis 'congenital syphilis' SubClassOf 'syphilis' 'congenital syphilis' SubClassOf 'infectious embryofetopathy' 'congenital syphilis' SubClassOf 'syphilis' 'congenital syphilis' SubClassOf 'infectious embryofetopathy' http://www.ebi.ac.uk/efo/EFO_0007243 Ebola hemorrhagic fever 'Ebola hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' 'Ebola hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' http://www.ebi.ac.uk/efo/EFO_0007242 Eastern equine encephalitis 'Eastern equine encephalitis' SubClassOf 'viral encephalitis' 'Eastern equine encephalitis' SubClassOf 'viral encephalitis' http://www.ebi.ac.uk/efo/EFO_0007241 dracunculiasis 'dracunculiasis' SubClassOf 'filariasis' 'dracunculiasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007247 echovirus infectious disease 'echovirus infectious disease' SubClassOf 'Enterovirus infectious disease' 'echovirus infectious disease' SubClassOf 'Enterovirus infectious disease' http://www.ebi.ac.uk/efo/EFO_0007246 echinostomiasis 'echinostomiasis' SubClassOf 'Helminthiasis' 'echinostomiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007244 Ebstein anomaly 'Ebstein anomaly' SubClassOf 'congenital tricuspid malformation' 'Ebstein anomaly' SubClassOf 'congenital tricuspid malformation' http://www.ebi.ac.uk/efo/EFO_0007249 emphysematous cholecystitis 'emphysematous cholecystitis' SubClassOf 'cystitis' 'emphysematous cholecystitis' SubClassOf 'cystitis' http://www.ebi.ac.uk/efo/EFO_0007250 encephalitozoonosis 'encephalitozoonosis' SubClassOf 'microsporidiosis' 'encephalitozoonosis' SubClassOf 'microsporidiosis' http://www.ebi.ac.uk/efo/EFO_0007232 cystoisosporiasis 'cystoisosporiasis' SubClassOf 'coccidiosis' 'cystoisosporiasis' SubClassOf 'coccidiosis' http://www.ebi.ac.uk/efo/EFO_0007231 cysticercosis 'cysticercosis' SubClassOf 'Taeniasis' 'cysticercosis' SubClassOf 'Taeniasis' http://www.ebi.ac.uk/efo/EFO_0007230 cyclosporiasis 'cyclosporiasis' SubClassOf 'coccidiosis' 'cyclosporiasis' SubClassOf 'coccidiosis' http://www.ebi.ac.uk/efo/EFO_0007236 diffuse idiopathic skeletal hyperostosis 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'hyperostosis' 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'genetic disorder' 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'hyperostosis' 'diffuse idiopathic skeletal hyperostosis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007235 Dictyocaulus infectious disease 'Dictyocaulus infectious disease' SubClassOf 'trichostrongyloidiasis, non-human animal' 'Dictyocaulus infectious disease' SubClassOf 'trichostrongyloidiasis, non-human animal' http://www.ebi.ac.uk/efo/EFO_0007234 dicrocoeliasis 'dicrocoeliasis' SubClassOf 'Helminthiasis' 'dicrocoeliasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007233 diaphragm disease 'diaphragm disease' SubClassOf 'skeletal muscle disorder' 'diaphragm disease' SubClassOf 'respiratory system disease' 'diaphragm disease' SubClassOf 'respiratory system disease' 'diaphragm disease' SubClassOf 'skeletal muscle disorder' http://www.ebi.ac.uk/efo/EFO_0007239 dirofilariasis 'dirofilariasis' SubClassOf 'filariasis' 'dirofilariasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007237 dipetalonemiasis 'dipetalonemiasis' SubClassOf 'filariasis' 'dipetalonemiasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007265 eumycotic mycetoma 'eumycotic mycetoma' SubClassOf 'dermatomycosis' 'eumycotic mycetoma' SubClassOf 'dermatomycosis' http://www.ebi.ac.uk/efo/EFO_0007264 ethmoid sinusitis 'ethmoid sinusitis' SubClassOf 'sinusitis' 'ethmoid sinusitis' SubClassOf 'sinusitis' http://www.ebi.ac.uk/efo/EFO_0007263 equine infectious anemia 'equine infectious anemia' SubClassOf 'equine neoplasm' 'equine infectious anemia' SubClassOf 'viral infectious disease, non-human animal' 'equine infectious anemia' SubClassOf 'equine neoplasm' 'equine infectious anemia' SubClassOf 'viral infectious disease, non-human animal' http://www.ebi.ac.uk/efo/EFO_0007262 epilepsy with generalized tonic-clonic seizures 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'adolescence-adult electroclinical syndrome' 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'adolescence-adult electroclinical syndrome' 'epilepsy with generalized tonic-clonic seizures' SubClassOf 'adolescent/adult-onset epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_0007269 Felty's syndrome 'Felty's syndrome' SubClassOf 'rheumatoid arthritis' 'Felty's syndrome' SubClassOf 'syndromic disease' 'Felty's syndrome' SubClassOf 'syndromic disease' 'Felty's syndrome' SubClassOf 'rheumatoid arthritis' http://www.ebi.ac.uk/efo/EFO_0007268 fascioloidiasis 'fascioloidiasis' SubClassOf 'Helminthiasis' 'fascioloidiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007266 eunuchism 'eunuchism' SubClassOf 'hypogonadism' 'eunuchism' SubClassOf 'hypogonadism' http://www.ebi.ac.uk/efo/EFO_0007272 filarial elephantiasis 'filarial elephantiasis' SubClassOf 'filariasis' 'filarial elephantiasis' SubClassOf 'vector-borne disease' 'filarial elephantiasis' SubClassOf 'elephantiasis' 'filarial elephantiasis' SubClassOf 'filariasis' 'filarial elephantiasis' SubClassOf 'vector-borne disease' 'filarial elephantiasis' SubClassOf 'elephantiasis' http://www.ebi.ac.uk/efo/EFO_0007271 fibroepithelial neoplasm 'fibroepithelial neoplasm' SubClassOf 'mixed neoplasm' 'fibroepithelial neoplasm' SubClassOf 'mixed neoplasm' http://www.ebi.ac.uk/efo/EFO_0007251 endocardial fibroelastosis 'endocardial fibroelastosis' SubClassOf 'endocardium disorder' 'endocardial fibroelastosis' SubClassOf 'endocardium disorder' http://www.ebi.ac.uk/efo/EFO_0007257 eosinophilic pneumonia 'eosinophilic pneumonia' SubClassOf 'pneumonia' 'eosinophilic pneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007259 epidemic pleurodynia 'epidemic pleurodynia' SubClassOf 'viral disease' 'epidemic pleurodynia' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007261 epiglottitis 'epiglottitis' SubClassOf 'upper respiratory tract disorder' 'epiglottitis' SubClassOf 'upper respiratory tract disorder' http://www.ebi.ac.uk/efo/EFO_0007260 epidural abscess 'epidural abscess' SubClassOf 'Central Nervous System Neoplasm' 'epidural abscess' SubClassOf 'abscess' 'epidural abscess' SubClassOf 'Central Nervous System Neoplasm' 'epidural abscess' SubClassOf 'abscess' http://www.ebi.ac.uk/efo/EFO_0007287 glucosephosphate dehydrogenase deficiency 'glucosephosphate dehydrogenase deficiency' SubClassOf 'inborn carbohydrate metabolic disorder' 'glucosephosphate dehydrogenase deficiency' SubClassOf 'inborn carbohydrate metabolic disorder' http://www.ebi.ac.uk/efo/EFO_0007286 glanders 'glanders' SubClassOf 'primary bacterial infectious disease' 'glanders' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007285 Gerstmann syndrome 'Gerstmann syndrome' SubClassOf 'nervous system disease' 'Gerstmann syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0007284 geotrichosis 'geotrichosis' SubClassOf 'opportunistic mycosis' 'geotrichosis' SubClassOf 'opportunistic mycosis' http://www.ebi.ac.uk/efo/EFO_0007289 gnathomiasis 'gnathomiasis' SubClassOf 'Helminthiasis' 'gnathomiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007290 Goodpasture syndrome 'Goodpasture syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Goodpasture syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_0007294 hand, foot and mouth disease 'hand, foot and mouth disease' SubClassOf 'coxsackievirus infectious disease' 'hand, foot and mouth disease' SubClassOf 'coxsackievirus infectious disease' http://www.ebi.ac.uk/efo/EFO_0007293 haemonchiasis 'haemonchiasis' SubClassOf 'trichostrongyloidiasis' 'haemonchiasis' SubClassOf 'trichostrongyloidiasis' http://www.ebi.ac.uk/efo/EFO_0007292 Guillain-Barre syndrome 'Guillain-Barre syndrome' SubClassOf 'autoimmune disorder of peripheral nervous system' 'Guillain-Barre syndrome' SubClassOf 'syndromic disease' 'Guillain-Barre syndrome' SubClassOf 'autoimmune disorder of peripheral nervous system' 'Guillain-Barre syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007291 granuloma inguinale 'granuloma inguinale' SubClassOf 'primary bacterial infectious disease' 'granuloma inguinale' SubClassOf 'bacterial sexually transmitted disease' 'granuloma inguinale' SubClassOf 'primary bacterial infectious disease' 'granuloma inguinale' SubClassOf 'bacterial sexually transmitted disease' http://www.ebi.ac.uk/efo/EFO_0007276 follicular dendritic cell sarcoma 'follicular dendritic cell sarcoma' SubClassOf 'Epstein-Barr virus-associated mesenchymal tumor' 'follicular dendritic cell sarcoma' SubClassOf 'dendritic cell sarcoma' 'follicular dendritic cell sarcoma' SubClassOf 'Epstein-Barr virus-associated mesenchymal tumor' 'follicular dendritic cell sarcoma' SubClassOf 'dendritic cell sarcoma' http://www.ebi.ac.uk/efo/EFO_0007275 focal epithelial hyperplasia 'focal epithelial hyperplasia' SubClassOf 'genetic disorder' 'focal epithelial hyperplasia' SubClassOf 'viral disease' 'focal epithelial hyperplasia' SubClassOf 'hyperplasia' 'focal epithelial hyperplasia' SubClassOf 'genetic disorder' 'focal epithelial hyperplasia' SubClassOf 'viral disease' 'focal epithelial hyperplasia' SubClassOf 'hyperplasia' http://www.ebi.ac.uk/efo/EFO_0007279 gas gangrene 'gas gangrene' SubClassOf 'commensal bacterial infectious disease' 'gas gangrene' SubClassOf 'commensal bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007278 fungal lung infectious disease 'fungal lung infectious disease' SubClassOf 'lung disease' 'fungal lung infectious disease' SubClassOf 'respiratory tract infectious disorder' 'fungal lung infectious disease' SubClassOf 'fungal infectious disease' 'fungal lung infectious disease' SubClassOf 'lung disease' 'fungal lung infectious disease' SubClassOf 'respiratory tract infectious disorder' 'fungal lung infectious disease' SubClassOf 'fungal infectious disease' http://www.ebi.ac.uk/efo/EFO_0007277 foot and mouth disease 'foot and mouth disease' SubClassOf 'viral infectious disease, non-human animal' 'foot and mouth disease' SubClassOf 'viral infectious disease, non-human animal' http://www.ebi.ac.uk/efo/EFO_0007283 geographic tongue 'geographic tongue' SubClassOf 'atrophic glossitis' 'geographic tongue' SubClassOf 'atrophic glossitis' http://www.ebi.ac.uk/efo/EFO_0007282 genital herpes 'genital herpes' SubClassOf 'viral sexually transmitted disease' 'genital herpes' SubClassOf 'Herpes simplex infection' 'genital herpes' SubClassOf 'viral sexually transmitted disease' 'genital herpes' SubClassOf 'Herpes simplex infection' http://www.ebi.ac.uk/efo/EFO_0007281 geniculate herpes zoster 'geniculate herpes zoster' SubClassOf 'ear infection' 'geniculate herpes zoster' SubClassOf 'Herpes Zoster' 'geniculate herpes zoster' SubClassOf 'ear infection' 'geniculate herpes zoster' SubClassOf 'Herpes Zoster' http://www.ebi.ac.uk/efo/EFO_0007280 gastrointestinal tuberculosis 'gastrointestinal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'gastrointestinal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007298 hemopericardium 'hemopericardium' SubClassOf 'pericardial effusion' 'hemopericardium' SubClassOf 'pericardial effusion' http://www.ebi.ac.uk/efo/EFO_0007297 HELLP syndrome 'HELLP syndrome' SubClassOf 'syndromic disease' 'HELLP syndrome' SubClassOf 'severe pre-eclampsia' 'HELLP syndrome' SubClassOf 'syndromic disease' 'HELLP syndrome' SubClassOf 'severe pre-eclampsia' http://www.ebi.ac.uk/efo/EFO_0007296 hantavirus pulmonary syndrome 'hantavirus pulmonary syndrome' SubClassOf 'Hantavirus infectious disease' 'hantavirus pulmonary syndrome' SubClassOf 'syndromic disease' 'hantavirus pulmonary syndrome' SubClassOf 'viral hemorrhagic fever' 'hantavirus pulmonary syndrome' SubClassOf 'Hantavirus infectious disease' 'hantavirus pulmonary syndrome' SubClassOf 'syndromic disease' 'hantavirus pulmonary syndrome' SubClassOf 'viral hemorrhagic fever' http://www.ebi.ac.uk/efo/EFO_0007295 Hantavirus infectious disease 'Hantavirus infectious disease' SubClassOf 'Bunyaviridae infectious disease' 'Hantavirus infectious disease' SubClassOf 'Bunyaviridae infectious disease' http://purl.obolibrary.org/obo/GO_0006520 amino acid metabolic process 'amino acid metabolic process' SubClassOf 'organic substance metabolic process' http://purl.obolibrary.org/obo/GO_0006547 histidine metabolic process 'histidine metabolic process' SubClassOf 'amino acid metabolic process' http://purl.obolibrary.org/obo/GO_0006558 L-phenylalanine metabolic process 'L-phenylalanine metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000407 malignant pleural solitary fibrous tumor 'malignant pleural solitary fibrous tumor' SubClassOf 'pleural solitary fibrous tumor' 'malignant pleural solitary fibrous tumor' SubClassOf 'Malignant Pleural Neoplasm' 'malignant pleural solitary fibrous tumor' SubClassOf 'pleural solitary fibrous tumor' 'malignant pleural solitary fibrous tumor' SubClassOf 'Malignant Pleural Neoplasm' http://purl.obolibrary.org/obo/MONDO_0000413 infancy electroclinical syndrome 'infancy electroclinical syndrome' SubClassOf 'electroclinical syndrome' 'infancy electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000412 neonatal period electroclinical syndrome 'neonatal period electroclinical syndrome' SubClassOf 'electroclinical syndrome' 'neonatal period electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000411 electroclinical syndrome 'electroclinical syndrome' SubClassOf 'epilepsy' 'electroclinical syndrome' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/GO_0006568 tryptophan metabolic process 'tryptophan metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000415 adolescence-adult electroclinical syndrome 'adolescence-adult electroclinical syndrome' SubClassOf 'electroclinical syndrome' 'adolescence-adult electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000414 childhood electroclinical syndrome 'childhood electroclinical syndrome' SubClassOf 'electroclinical syndrome' 'childhood electroclinical syndrome' SubClassOf 'electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0000424 inborn vitamin B12 deficiency 'inborn vitamin B12 deficiency' SubClassOf 'vitamin metabolic disorder' 'inborn vitamin B12 deficiency' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/GO_0006570 tyrosine metabolic process 'tyrosine metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000426 autosomal dominant disease 'autosomal dominant disease' SubClassOf 'autosomal genetic disease' 'autosomal dominant disease' SubClassOf 'autosomal genetic disease' http://purl.obolibrary.org/obo/MONDO_0000425 X-linked disease 'X-linked disease' SubClassOf 'genetic disorder' 'X-linked disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000429 autosomal genetic disease 'autosomal genetic disease' SubClassOf 'genetic disorder' 'autosomal genetic disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000430 mature T-cell and NK-cell non-Hodgkin lymphoma 'mature T-cell and NK-cell non-Hodgkin lymphoma' EquivalentTo 'T-cell non-Hodgkin lymphoma' and 'neoplasm of mature T-cells or NK-cells' 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'neoplasm of mature T-cells or NK-cells' 'mature T-cell and NK-cell non-Hodgkin lymphoma' EquivalentTo 'T-cell non-Hodgkin lymphoma' and 'neoplasm of mature T-cells or NK-cells' 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'neoplasm of mature T-cells or NK-cells' http://purl.obolibrary.org/obo/MONDO_0000432 lymphoplasmacytic lymphoma 'lymphoplasmacytic lymphoma' SubClassOf 'B-cell neoplasm' 'lymphoplasmacytic lymphoma' SubClassOf 'B-cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia 'cerebellar ataxia' SubClassOf 'movement disorder' 'cerebellar ataxia' SubClassOf 'atactic disorder' 'cerebellar ataxia' SubClassOf 'cerebellar disorder' 'cerebellar ataxia' SubClassOf 'movement disorder' 'cerebellar ataxia' SubClassOf 'atactic disorder' 'cerebellar ataxia' SubClassOf 'cerebellar disorder' http://purl.obolibrary.org/obo/MONDO_0000440 metabolic acidosis 'metabolic acidosis' SubClassOf 'acidosis' 'metabolic acidosis' SubClassOf 'acidosis' http://purl.obolibrary.org/obo/MONDO_0024414 anaerobic cellulitis 'anaerobic cellulitis' SubClassOf 'anaerobic bacteria infectious disease' 'anaerobic cellulitis' SubClassOf 'anaerobic bacteria infectious disease' http://purl.obolibrary.org/obo/MONDO_0024419 enthesitis 'enthesitis' SubClassOf 'enthesopathy' 'enthesitis' SubClassOf 'enthesopathy' http://purl.obolibrary.org/obo/MONDO_0000447 autosomal dominant polycystic liver disease 'autosomal dominant polycystic liver disease' SubClassOf 'autosomal dominant disease' 'autosomal dominant polycystic liver disease' SubClassOf 'liver disease' 'autosomal dominant polycystic liver disease' SubClassOf 'autosomal dominant disease' 'autosomal dominant polycystic liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0000453 short QT syndrome 'short QT syndrome' SubClassOf 'heart conduction disease' 'short QT syndrome' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0000456 cerebral creatine deficiency syndrome 'cerebral creatine deficiency syndrome' SubClassOf 'inborn disorder of amino acid metabolism' 'cerebral creatine deficiency syndrome' SubClassOf 'metabolic epilepsy' 'cerebral creatine deficiency syndrome' SubClassOf 'inborn disorder of energy metabolism' 'cerebral creatine deficiency syndrome' SubClassOf 'inborn disorder of amino acid metabolism' 'cerebral creatine deficiency syndrome' SubClassOf 'metabolic epilepsy' 'cerebral creatine deficiency syndrome' SubClassOf 'inborn disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0000455 cone dystrophy 'cone dystrophy' SubClassOf 'hereditary macular dystrophy' 'cone dystrophy' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome 'Ochoa syndrome' SubClassOf 'autosomal recessive disease' 'Ochoa syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0000461 nutritional biotin deficiency 'nutritional biotin deficiency' SubClassOf 'vitamin deficiency disorder' 'nutritional biotin deficiency' SubClassOf 'vitamin deficiency disorder' http://purl.obolibrary.org/obo/MONDO_0000468 third-degree atrioventricular block 'third-degree atrioventricular block' SubClassOf 'cardiac rhythm disease' 'third-degree atrioventricular block' SubClassOf 'atrioventricular block' 'third-degree atrioventricular block' SubClassOf 'cardiac rhythm disease' 'third-degree atrioventricular block' SubClassOf 'atrioventricular block' http://purl.obolibrary.org/obo/MONDO_0000465 atrioventricular block 'atrioventricular block' SubClassOf 'atrioventricular dissociation' 'atrioventricular block' SubClassOf 'heart conduction disease' 'atrioventricular block' SubClassOf 'atrioventricular dissociation' 'atrioventricular block' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0000469 sinoatrial node disorder 'sinoatrial node disorder' SubClassOf 'heart conduction disease' 'sinoatrial node disorder' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder 'arterial disorder' SubClassOf 'vascular disease' 'arterial disorder' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0000478 multifocal dystonia 'multifocal dystonia' SubClassOf 'dystonic disorder' 'multifocal dystonia' SubClassOf 'dystonic disorder' http://purl.obolibrary.org/obo/MONDO_0000477 focal dystonia 'focal dystonia' SubClassOf 'dystonic disorder' 'focal dystonia' SubClassOf 'dystonic disorder' http://purl.obolibrary.org/obo/MONDO_0000476 generalized dystonia 'generalized dystonia' SubClassOf 'isolated dystonia' 'generalized dystonia' SubClassOf 'isolated dystonia' http://purl.obolibrary.org/obo/MONDO_0000470 endocardium disorder 'endocardium disorder' SubClassOf 'heart disease' 'endocardium disorder' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0000486 craniofacial dystonia 'craniofacial dystonia' SubClassOf 'focal dystonia' 'craniofacial dystonia' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0000485 spasmodic dystonia 'spasmodic dystonia' SubClassOf 'focal dystonia' 'spasmodic dystonia' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0000483 oculogyric crisis 'oculogyric crisis' SubClassOf 'focal dystonia' 'oculogyric crisis' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0024457 neurodegeneration with brain iron accumulation 2A 'neurodegeneration with brain iron accumulation 2A' SubClassOf 'PLA2G6-associated neurodegeneration' 'neurodegeneration with brain iron accumulation 2A' SubClassOf 'hereditary peripheral neuropathy' 'neurodegeneration with brain iron accumulation 2A' SubClassOf 'PLA2G6-associated neurodegeneration' 'neurodegeneration with brain iron accumulation 2A' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0000489 diabetic encephalopathy 'diabetic encephalopathy' SubClassOf 'brain disease' 'diabetic encephalopathy' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0000481 cervical dystonia 'cervical dystonia' SubClassOf 'focal dystonia' 'cervical dystonia' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0000497 pyometritis 'pyometritis' SubClassOf 'inflammatory disease' 'pyometritis' SubClassOf 'uterine disorder' 'pyometritis' SubClassOf 'inflammatory disease' 'pyometritis' SubClassOf 'uterine disorder' http://purl.obolibrary.org/obo/MONDO_0000496 hemorrhagic cystitis 'hemorrhagic cystitis' SubClassOf 'cystitis' 'hemorrhagic cystitis' SubClassOf 'cystitis' http://purl.obolibrary.org/obo/MONDO_0000491 limb ischemia 'limb ischemia' SubClassOf 'ischemic disease' 'limb ischemia' SubClassOf 'ischemic disease' http://purl.obolibrary.org/obo/MONDO_0000490 glomerulosclerosis 'glomerulosclerosis' SubClassOf 'glomerular disease' 'glomerulosclerosis' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/MONDO_0024475 squamous cell intraepithelial neoplasia 'squamous cell intraepithelial neoplasia' SubClassOf 'squamous cell neoplasm' 'squamous cell intraepithelial neoplasia' SubClassOf 'intraepithelial neoplasia' 'squamous cell intraepithelial neoplasia' SubClassOf 'squamous cell neoplasm' 'squamous cell intraepithelial neoplasia' SubClassOf 'intraepithelial neoplasia' http://purl.obolibrary.org/obo/MONDO_0024474 intraepithelial neoplasia 'intraepithelial neoplasia' SubClassOf 'precancerous condition' 'intraepithelial neoplasia' SubClassOf 'epithelial neoplasm' 'intraepithelial neoplasia' SubClassOf 'precancerous condition' 'intraepithelial neoplasia' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0024477 liver and intrahepatic bile duct neoplasm 'liver and intrahepatic bile duct neoplasm' SubClassOf 'Hepatobiliary Neoplasm' 'liver and intrahepatic bile duct neoplasm' SubClassOf 'Hepatobiliary Neoplasm' http://purl.obolibrary.org/obo/MONDO_0024478 mesenchymal hamartoma 'mesenchymal hamartoma' SubClassOf 'hamartoma' 'mesenchymal hamartoma' SubClassOf 'hamartoma' http://purl.obolibrary.org/obo/MONDO_0024470 benign chondrogenic neoplasm 'benign chondrogenic neoplasm' SubClassOf 'chondrogenic neoplasm' 'benign chondrogenic neoplasm' SubClassOf 'chondrogenic neoplasm' http://purl.obolibrary.org/obo/MONDO_0024464 pituitary hormone deficiency, combined, 1 'pituitary hormone deficiency, combined, 1' SubClassOf 'combined pituitary hormone deficiencies, genetic form' 'pituitary hormone deficiency, combined, 1' SubClassOf 'combined pituitary hormone deficiencies, genetic form' http://purl.obolibrary.org/obo/MONDO_0024468 anterior pituitary gland disorder 'anterior pituitary gland disorder' SubClassOf 'pituitary gland disease' 'anterior pituitary gland disorder' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0024469 chondrogenic neoplasm 'chondrogenic neoplasm' SubClassOf 'mesenchymal cell neoplasm' 'chondrogenic neoplasm' SubClassOf 'mesenchymal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0024462 susceptibility to familial cutaneous melanoma 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'cutaneous melanoma') 'susceptibility to familial cutaneous melanoma' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'cutaneous melanoma') 'susceptibility to familial cutaneous melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0024257 hereditary motor neuron disease 'hereditary motor neuron disease' SubClassOf 'motor neuron disease' 'hereditary motor neuron disease' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0000286 Epstein-Barr virus hepatitis 'Epstein-Barr virus hepatitis' SubClassOf 'viral human hepatitis infection' 'Epstein-Barr virus hepatitis' SubClassOf 'viral human hepatitis infection' http://purl.obolibrary.org/obo/MONDO_0024252 global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf 'monogenic epilepsy' 'global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0024247 benign eccrine neoplasm 'benign eccrine neoplasm' SubClassOf 'benign neoplasm of sweat gland' 'benign eccrine neoplasm' SubClassOf 'eccrine sweat gland neoplasm' 'benign eccrine neoplasm' SubClassOf 'benign neoplasm of sweat gland' 'benign eccrine neoplasm' SubClassOf 'eccrine sweat gland neoplasm' http://purl.obolibrary.org/obo/MONDO_0024240 eccrine carcinoma 'eccrine carcinoma' SubClassOf 'eccrine sweat gland cancer' 'eccrine carcinoma' SubClassOf 'sweat gland carcinoma' 'eccrine carcinoma' SubClassOf 'eccrine sweat gland cancer' 'eccrine carcinoma' SubClassOf 'sweat gland carcinoma' http://purl.obolibrary.org/obo/MONDO_0024276 glandular cell neoplasm 'glandular cell neoplasm' SubClassOf 'epithelial neoplasm' 'glandular cell neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0024279 chronic endometritis 'chronic endometritis' SubClassOf 'Endometritis' 'chronic endometritis' SubClassOf 'Endometritis' http://purl.obolibrary.org/obo/MONDO_0024278 proctocolitis 'proctocolitis' SubClassOf 'colitis' 'proctocolitis' SubClassOf 'proctitis' 'proctocolitis' SubClassOf 'colitis' 'proctocolitis' SubClassOf 'proctitis' http://purl.obolibrary.org/obo/MONDO_0024271 intestinal helminthiasis 'intestinal helminthiasis' SubClassOf 'Helminthiasis' 'intestinal helminthiasis' SubClassOf 'parasitic intestinal disease' 'intestinal helminthiasis' SubClassOf 'Helminthiasis' 'intestinal helminthiasis' SubClassOf 'parasitic intestinal disease' http://purl.obolibrary.org/obo/MONDO_0024275 amebic dysentery 'amebic dysentery' SubClassOf 'amebiasis' 'amebic dysentery' SubClassOf 'amebiasis' http://purl.obolibrary.org/obo/MONDO_0024268 superficial mycosis 'superficial mycosis' SubClassOf 'disease has location' some 'stratum corneum of epidermis' 'superficial mycosis' SubClassOf 'disease has location' some 'stratum corneum of epidermis' http://purl.obolibrary.org/obo/MONDO_0024263 neonatal aspiration syndrome 'neonatal aspiration syndrome' SubClassOf 'syndromic disease' 'neonatal aspiration syndrome' SubClassOf 'lung disease' 'neonatal aspiration syndrome' SubClassOf 'syndromic disease' 'neonatal aspiration syndrome' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/MONDO_0024298 vitamin deficiency disorder 'vitamin deficiency disorder' SubClassOf 'nutritional deficiency disease' 'vitamin deficiency disorder' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_0007126 Acanthamoeba keratitis 'Acanthamoeba keratitis' SubClassOf 'protozoa infectious disease' 'Acanthamoeba keratitis' SubClassOf 'protozoa infectious disease' http://www.ebi.ac.uk/efo/EFO_0007129 acute chest syndrome 'acute chest syndrome' SubClassOf 'lung disease' 'acute chest syndrome' SubClassOf 'syndromic disease' 'acute chest syndrome' SubClassOf 'lung disease' 'acute chest syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007128 actinomycosis 'actinomycosis' SubClassOf 'commensal bacterial infectious disease' 'actinomycosis' SubClassOf 'commensal bacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0024292 gastrointestinal polyp 'gastrointestinal polyp' SubClassOf 'polyp' 'gastrointestinal polyp' SubClassOf 'digestive system disease' 'gastrointestinal polyp' SubClassOf 'polyp' 'gastrointestinal polyp' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0024295 skin disease caused by bacterial infection 'skin disease caused by bacterial infection' SubClassOf 'bacterial disease' 'skin disease caused by bacterial infection' SubClassOf 'skin disorder caused by infection' 'skin disease caused by bacterial infection' SubClassOf 'bacterial disease' 'skin disease caused by bacterial infection' SubClassOf 'skin disorder caused by infection' http://purl.obolibrary.org/obo/MONDO_0024294 skin disorder caused by infection 'skin disorder caused by infection' SubClassOf 'skin disease' 'skin disorder caused by infection' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0024280 polyarticular arthritis 'polyarticular arthritis' SubClassOf 'arthritis' 'polyarticular arthritis' SubClassOf 'arthritis' http://purl.obolibrary.org/obo/MONDO_0024282 mucinous ovarian cancer 'mucinous ovarian cancer' SubClassOf 'ovarian mucinous neoplasm' 'mucinous ovarian cancer' SubClassOf 'malignant epithelial tumor of ovary' 'mucinous ovarian cancer' SubClassOf 'ovarian mucinous neoplasm' 'mucinous ovarian cancer' SubClassOf 'malignant epithelial tumor of ovary' http://purl.obolibrary.org/obo/MONDO_0024286 benign blood vessel neoplasm 'benign blood vessel neoplasm' SubClassOf 'blood vessel neoplasm' 'benign blood vessel neoplasm' SubClassOf 'blood vessel neoplasm' http://www.ebi.ac.uk/efo/EFO_0007144 amebiasis 'amebiasis' SubClassOf 'protozoa infectious disease' 'amebiasis' SubClassOf 'protozoa infectious disease' http://www.ebi.ac.uk/efo/EFO_0007143 alveolar soft part sarcoma 'alveolar soft part sarcoma' SubClassOf 'soft tissue sarcoma' 'alveolar soft part sarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_0007141 allergic conjunctivitis 'allergic conjunctivitis' SubClassOf 'chronic conjunctivitis' 'allergic conjunctivitis' SubClassOf 'chronic conjunctivitis' http://www.ebi.ac.uk/efo/EFO_0007148 aortic valve insufficiency 'aortic valve insufficiency' SubClassOf 'aortic valve disease' 'aortic valve insufficiency' SubClassOf 'aortic valve disease' http://www.ebi.ac.uk/efo/EFO_0007147 anogenital venereal wart 'anogenital venereal wart' SubClassOf 'viral sexually transmitted disease' 'anogenital venereal wart' SubClassOf 'human papilloma virus infection' 'anogenital venereal wart' SubClassOf 'viral sexually transmitted disease' 'anogenital venereal wart' SubClassOf 'human papilloma virus infection' http://www.ebi.ac.uk/efo/EFO_0007149 appendicitis 'appendicitis' SubClassOf 'cecal disorder' 'appendicitis' SubClassOf 'cecal disorder' http://www.ebi.ac.uk/efo/EFO_0007151 Arenavirus hemorrhagic fever 'Arenavirus hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' 'Arenavirus hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' http://www.ebi.ac.uk/efo/EFO_0007133 adenomyoma 'adenomyoma' SubClassOf 'benign female reproductive system neoplasm' 'adenomyoma' SubClassOf 'benign female reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0007132 acute hemorrhagic leukoencephalitis 'acute hemorrhagic leukoencephalitis' SubClassOf 'acute hemorrhagic encephalitis' 'acute hemorrhagic leukoencephalitis' SubClassOf 'acute disseminated encephalomyelitis' 'acute hemorrhagic leukoencephalitis' SubClassOf 'acute hemorrhagic encephalitis' 'acute hemorrhagic leukoencephalitis' SubClassOf 'acute disseminated encephalomyelitis' http://www.ebi.ac.uk/efo/EFO_0007131 acute hemorrhagic conjunctivitis 'acute hemorrhagic conjunctivitis' SubClassOf 'acute conjunctivitis' 'acute hemorrhagic conjunctivitis' SubClassOf 'acute conjunctivitis' http://www.ebi.ac.uk/efo/EFO_0007130 acute disseminated encephalomyelitis 'acute disseminated encephalomyelitis' SubClassOf 'postinfectious encephalitis' 'acute disseminated encephalomyelitis' SubClassOf 'demyelinating disease' 'acute disseminated encephalomyelitis' SubClassOf 'postinfectious encephalitis' 'acute disseminated encephalomyelitis' SubClassOf 'demyelinating disease' http://www.ebi.ac.uk/efo/EFO_0007137 AIDS related complex 'AIDS related complex' SubClassOf 'HIV infection' 'AIDS related complex' SubClassOf 'HIV infection' http://www.ebi.ac.uk/efo/EFO_0007136 agnosia 'agnosia' SubClassOf 'perceptual disorders' 'agnosia' EquivalentTo 'perceptual disorders' and ('disease has major feature' some 'Disturbed sensory perception') 'agnosia' SubClassOf 'disease has major feature' some 'Disturbed sensory perception' 'agnosia' SubClassOf 'perceptual disorders' 'agnosia' EquivalentTo 'perceptual disorders' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Disturbed sensory perception') 'agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Disturbed sensory perception' http://www.ebi.ac.uk/efo/EFO_0007135 adult-onset Still's disease 'adult-onset Still's disease' SubClassOf 'autoinflammatory syndrome' 'adult-onset Still's disease' SubClassOf 'arthritis' 'adult-onset Still's disease' SubClassOf 'autoinflammatory syndrome' 'adult-onset Still's disease' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_0007134 adenosarcoma 'adenosarcoma' SubClassOf 'Genital neoplasm, female' 'adenosarcoma' SubClassOf 'Malignant Mixed Neoplasm' 'adenosarcoma' SubClassOf 'Genital neoplasm, female' 'adenosarcoma' SubClassOf 'Malignant Mixed Neoplasm' http://www.ebi.ac.uk/efo/EFO_0007139 aleutian mink disease 'aleutian mink disease' SubClassOf 'Parvoviridae infectious disease, non-human animal' 'aleutian mink disease' SubClassOf 'Parvoviridae infectious disease, non-human animal' http://www.ebi.ac.uk/efo/EFO_0007138 akinetic mutism 'akinetic mutism' SubClassOf 'brain disease' 'akinetic mutism' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0007140 allergic bronchopulmonary aspergillosis 'allergic bronchopulmonary aspergillosis' SubClassOf 'allergic respiratory disease' 'allergic bronchopulmonary aspergillosis' SubClassOf 'aspergillosis' 'allergic bronchopulmonary aspergillosis' SubClassOf 'allergic respiratory disease' 'allergic bronchopulmonary aspergillosis' SubClassOf 'aspergillosis' http://www.ebi.ac.uk/efo/EFO_0007166 bartonellosis 'bartonellosis' SubClassOf 'primary bacterial infectious disease' 'bartonellosis' SubClassOf 'primary Bartonellaceae infectious disease' 'bartonellosis' SubClassOf 'primary bacterial infectious disease' 'bartonellosis' SubClassOf 'primary Bartonellaceae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007165 Barre-Lieou syndrome 'Barre-Lieou syndrome' SubClassOf 'syndromic disease' 'Barre-Lieou syndrome' SubClassOf 'nervous system disease' 'Barre-Lieou syndrome' SubClassOf 'syndromic disease' 'Barre-Lieou syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0007164 Balkan nephropathy 'Balkan nephropathy' SubClassOf 'interstitial nephritis' 'Balkan nephropathy' SubClassOf 'interstitial nephritis' http://www.ebi.ac.uk/efo/EFO_0007163 balantidiasis 'balantidiasis' SubClassOf 'parasitic intestinal disease' 'balantidiasis' SubClassOf 'protozoa infectious disease' 'balantidiasis' SubClassOf 'parasitic intestinal disease' 'balantidiasis' SubClassOf 'protozoa infectious disease' http://www.ebi.ac.uk/efo/EFO_0007169 biliary dyskinesia 'biliary dyskinesia' SubClassOf 'common bile duct disorder' 'biliary dyskinesia' SubClassOf 'gallbladder disease' 'biliary dyskinesia' SubClassOf 'common bile duct disorder' 'biliary dyskinesia' SubClassOf 'gallbladder disease' http://www.ebi.ac.uk/efo/EFO_0007168 berylliosis 'berylliosis' SubClassOf 'pneumoconiosis' 'berylliosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_0007167 Bell's palsy 'Bell's palsy' SubClassOf 'cranial nerve palsy' 'Bell's palsy' SubClassOf 'facial paralysis' 'Bell's palsy' SubClassOf 'facial nerve disease' 'Bell's palsy' SubClassOf 'facial paralysis' 'Bell's palsy' SubClassOf 'cranial nerve palsy' 'Bell's palsy' SubClassOf 'facial nerve disease' http://www.ebi.ac.uk/efo/EFO_0007173 Blastocystis hominis infectious disease 'Blastocystis hominis infectious disease' SubClassOf 'amebiasis' 'Blastocystis hominis infectious disease' SubClassOf 'parasitic intestinal disease' 'Blastocystis hominis infectious disease' SubClassOf 'amebiasis' 'Blastocystis hominis infectious disease' SubClassOf 'parasitic intestinal disease' http://www.ebi.ac.uk/efo/EFO_0007172 blackwater fever 'blackwater fever' SubClassOf 'malaria' 'blackwater fever' SubClassOf 'malaria' http://www.ebi.ac.uk/efo/EFO_0007171 black piedra 'black piedra' SubClassOf 'piedra' 'black piedra' SubClassOf 'piedra' http://www.ebi.ac.uk/efo/EFO_0007170 bird fancier's lung 'bird fancier's lung' SubClassOf 'hypersensitivity pneumonitis' 'bird fancier's lung' SubClassOf 'hypersensitivity pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007153 asbestosis 'asbestosis' SubClassOf 'pneumoconiosis' 'asbestosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_0007159 atrophic rhinitis 'atrophic rhinitis' SubClassOf 'rhinitis' 'atrophic rhinitis' SubClassOf 'rhinitis' http://www.ebi.ac.uk/efo/EFO_0007157 aspergillosis 'aspergillosis' SubClassOf 'opportunistic mycosis' 'aspergillosis' SubClassOf 'opportunistic mycosis' http://www.ebi.ac.uk/efo/EFO_0007162 babesiosis 'babesiosis' SubClassOf 'protozoa infectious disease' 'babesiosis' SubClassOf 'protozoa infectious disease' http://www.ebi.ac.uk/efo/EFO_0007160 autoimmune thrombocytopenic purpura 'autoimmune thrombocytopenic purpura' SubClassOf 'disease has location' some 'platelet' 'autoimmune thrombocytopenic purpura' SubClassOf 'primary thrombocytopenia' 'autoimmune thrombocytopenic purpura' SubClassOf 'autoimmune thrombocytopenia' 'autoimmune thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' 'autoimmune thrombocytopenic purpura' SubClassOf 'disease has location' some 'platelet' 'autoimmune thrombocytopenic purpura' SubClassOf 'primary thrombocytopenia' 'autoimmune thrombocytopenic purpura' SubClassOf 'autoimmune thrombocytopenia' 'autoimmune thrombocytopenic purpura' SubClassOf 'thrombocytopenic purpura' http://www.ebi.ac.uk/efo/EFO_0007187 bullous pemphigoid 'bullous pemphigoid' SubClassOf 'autoimmune bullous skin disease' 'bullous pemphigoid' SubClassOf 'autoimmune bullous skin disease' http://www.ebi.ac.uk/efo/EFO_0007186 bulbar polio 'bulbar polio' SubClassOf 'paralytic poliomyelitis' 'bulbar polio' SubClassOf 'paralytic poliomyelitis' http://www.ebi.ac.uk/efo/EFO_0007185 brucellosis 'brucellosis' SubClassOf 'primary bacterial infectious disease' 'brucellosis' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007191 cannabis dependence 'cannabis dependence' SubClassOf 'drug dependence' 'cannabis dependence' SubClassOf 'drug dependence' http://www.ebi.ac.uk/efo/EFO_0007190 campylobacteriosis 'campylobacteriosis' SubClassOf 'primary bacterial infectious disease' 'campylobacteriosis' SubClassOf 'gastroenteritis' 'campylobacteriosis' SubClassOf 'primary bacterial infectious disease' 'campylobacteriosis' SubClassOf 'gastroenteritis' http://www.ebi.ac.uk/efo/EFO_0007195 cat-scratch disease 'cat-scratch disease' SubClassOf 'lymphadenitis' 'cat-scratch disease' SubClassOf 'bartonellosis' 'cat-scratch disease' SubClassOf 'lymphadenitis' 'cat-scratch disease' SubClassOf 'bartonellosis' http://www.ebi.ac.uk/efo/EFO_0007193 carbamoyl phosphate synthetase I deficiency disease 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf 'urea cycle disorder or inherited hyperammonemia' http://www.ebi.ac.uk/efo/EFO_0007192 Caplan's syndrome 'Caplan's syndrome' SubClassOf 'pneumoconiosis' 'Caplan's syndrome' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_0007176 bone giant cell tumor 'bone giant cell tumor' SubClassOf 'bone sarcoma' 'bone giant cell tumor' SubClassOf 'bone sarcoma' http://www.ebi.ac.uk/efo/EFO_0007174 blastomycosis 'blastomycosis' SubClassOf 'primary systemic mycosis' 'blastomycosis' SubClassOf 'primary systemic mycosis' http://www.ebi.ac.uk/efo/EFO_0007178 borna disease 'borna disease' SubClassOf 'nervous system disorder, non-human animal' 'borna disease' SubClassOf 'viral infectious disease, non-human animal' 'borna disease' SubClassOf 'inflammatory disease, non-human animal' 'borna disease' SubClassOf 'acute disease, non-human animal' 'borna disease' SubClassOf 'viral infectious disease, non-human animal' 'borna disease' SubClassOf 'nervous system disorder, non-human animal' http://www.ebi.ac.uk/efo/EFO_0007180 bovine respiratory disease complex 'bovine respiratory disease complex' SubClassOf 'cattle disease' 'bovine respiratory disease complex' SubClassOf 'in taxon' some 'Bos taurus' 'bovine respiratory disease complex' SubClassOf 'cattle disease' 'bovine respiratory disease complex' SubClassOf 'in taxon' some 'Bos taurus' http://www.ebi.ac.uk/efo/EFO_0007184 bronchopneumonia 'bronchopneumonia' SubClassOf 'pneumonia' 'bronchopneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007183 bronchiolitis obliterans 'bronchiolitis obliterans' SubClassOf 'bronchiolitis' 'bronchiolitis obliterans' SubClassOf 'interstitial lung disease' 'bronchiolitis obliterans' SubClassOf 'bronchiolitis' 'bronchiolitis obliterans' SubClassOf 'interstitial lung disease' http://www.ebi.ac.uk/efo/EFO_0007182 Brill-Zinsser disease 'Brill-Zinsser disease' SubClassOf 'epidemic louse-borne typhus' 'Brill-Zinsser disease' SubClassOf 'epidemic louse-borne typhus' http://www.ebi.ac.uk/efo/EFO_0007181 bovine virus diarrhea-mucosal disease 'bovine virus diarrhea-mucosal disease' SubClassOf 'in taxon' some 'Bos taurus' 'bovine virus diarrhea-mucosal disease' SubClassOf 'cattle disease' 'bovine virus diarrhea-mucosal disease' SubClassOf 'pestivirus infectious disease, non-human animal' 'bovine virus diarrhea-mucosal disease' SubClassOf 'in taxon' some 'Bos taurus' 'bovine virus diarrhea-mucosal disease' SubClassOf 'cattle disease' 'bovine virus diarrhea-mucosal disease' SubClassOf 'pestivirus infectious disease, non-human animal' http://www.ebi.ac.uk/efo/EFO_0007199 central nervous system tuberculosis 'central nervous system tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'central nervous system tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007198 central nervous system AIDS arteritis 'central nervous system AIDS arteritis' SubClassOf 'HIV infection' 'central nervous system AIDS arteritis' SubClassOf 'central nervous system vasculitis' 'central nervous system AIDS arteritis' SubClassOf 'HIV infection' 'central nervous system AIDS arteritis' SubClassOf 'central nervous system vasculitis' http://www.ebi.ac.uk/efo/EFO_0007196 Cauda equina syndrome 'Cauda equina syndrome' SubClassOf 'syndromic disease' 'Cauda equina syndrome' SubClassOf 'peripheral nervous system disease' 'Cauda equina syndrome' SubClassOf 'syndromic disease' 'Cauda equina syndrome' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/MONDO_0014903 seizures, benign familial infantile, 5 'seizures, benign familial infantile, 5' SubClassOf 'benign familial infantile epilepsy' 'seizures, benign familial infantile, 5' SubClassOf 'benign familial infantile epilepsy' http://purl.obolibrary.org/obo/MONDO_0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 'Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y 'autosomal recessive limb-girdle muscular dystrophy type 2Y' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2Y' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014914 Dias-Logan syndrome 'Dias-Logan syndrome' SubClassOf 'BAFopathy' 'Dias-Logan syndrome' SubClassOf 'BAFopathy' http://purl.obolibrary.org/obo/MONDO_0014912 infantile-onset periodic fever-panniculitis-dermatosis syndrome 'infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'hereditary periodic fever syndrome' 'infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'immune system disease' 'infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'hereditary periodic fever syndrome' 'infantile-onset periodic fever-panniculitis-dermatosis syndrome' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0014919 sessile serrated polyposis cancer syndrome 'sessile serrated polyposis cancer syndrome' SubClassOf 'hyperplastic polyposis syndrome' 'sessile serrated polyposis cancer syndrome' SubClassOf 'hyperplastic polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0014918 tall stature-intellectual disability-renal anomalies syndrome 'tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'genetic disorder' 'tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014917 developmental and epileptic encephalopathy, 42 'developmental and epileptic encephalopathy, 42' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 42' SubClassOf 'CACNA1A-related complex neurodevelopmental disorder' 'developmental and epileptic encephalopathy, 42' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 42' SubClassOf 'CACNA1A-related complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0014916 developmental and epileptic encephalopathy, 41 'developmental and epileptic encephalopathy, 41' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 41' SubClassOf 'early myoclonic encephalopathy' 'developmental and epileptic encephalopathy, 41' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 41' SubClassOf 'early myoclonic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014929 retinitis pigmentosa 76 'retinitis pigmentosa 76' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 76' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0014922 myofibrillar myopathy 7 'myofibrillar myopathy 7' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 7' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0014921 developmental and epileptic encephalopathy, 43 'developmental and epileptic encephalopathy, 43' SubClassOf 'Lennox-Gastaut syndrome' 'developmental and epileptic encephalopathy, 43' SubClassOf 'Lennox-Gastaut syndrome' http://purl.obolibrary.org/obo/MONDO_0014920 patterned macular dystrophy 3 'patterned macular dystrophy 3' SubClassOf 'patterned macular dystrophy' 'patterned macular dystrophy 3' SubClassOf 'patterned macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014935 frontometaphyseal dysplasia 2 'frontometaphyseal dysplasia 2' SubClassOf 'frontometaphyseal dysplasia' 'frontometaphyseal dysplasia 2' SubClassOf 'frontometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014934 spinocerebellar ataxia, autosomal recessive 24 'spinocerebellar ataxia, autosomal recessive 24' SubClassOf 'autosomal dominant cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive 24' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014933 developmental and epileptic encephalopathy, 44 'developmental and epileptic encephalopathy, 44' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 44' SubClassOf 'undetermined early-onset epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014931 Alazami-Yuan syndrome 'Alazami-Yuan syndrome' SubClassOf 'genetic disorder' 'Alazami-Yuan syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014930 intellectual disability, autosomal recessive 56 'intellectual disability, autosomal recessive 56' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 56' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay 'short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay' SubClassOf 'genetic disorder' 'short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014947 developmental and epileptic encephalopathy, 46 'developmental and epileptic encephalopathy, 46' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 46' SubClassOf 'undetermined early-onset epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014946 Sifrim-Hitz-Weiss syndrome 'Sifrim-Hitz-Weiss syndrome' SubClassOf 'genetic disorder' 'Sifrim-Hitz-Weiss syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 'neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset' SubClassOf 'genetic disorder' 'neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014944 short stature-brachydactyly-obesity-global developmental delay syndrome 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'acromelic dysplasia' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'syndromic intellectual disability' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'acromelic dysplasia' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 'mitochondrial DNA depletion syndrome 15 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 15 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014942 developmental and epileptic encephalopathy, 45 'developmental and epileptic encephalopathy, 45' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 45' SubClassOf 'undetermined early-onset epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0000307 parasitic Ichthyosporea infectious disease 'parasitic Ichthyosporea infectious disease' SubClassOf 'parasitic infection' 'parasitic Ichthyosporea infectious disease' SubClassOf 'parasitic infection' http://purl.obolibrary.org/obo/MONDO_0000308 primary systemic mycosis 'primary systemic mycosis' SubClassOf 'systemic mycosis' 'primary systemic mycosis' SubClassOf 'systemic mycosis' http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease 'primary bacterial infectious disease' SubClassOf 'bacterial disease' 'primary bacterial infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0000313 hypophosphatemia 'hypophosphatemia' SubClassOf 'phosphorus metabolism disease' 'hypophosphatemia' SubClassOf 'phosphorus metabolism disease' http://purl.obolibrary.org/obo/MONDO_0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 'mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014957 language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia 'language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia' SubClassOf 'genetic disorder' 'language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014956 Chitayat syndrome 'Chitayat syndrome' SubClassOf 'genetic disorder' 'Chitayat syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014951 intellectual developmental disorder, autosomal recessive 74 'intellectual developmental disorder, autosomal recessive 74' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual developmental disorder, autosomal recessive 74' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014954 Ehlers-Danlos syndrome, periodontal type 2 'Ehlers-Danlos syndrome, periodontal type 2' SubClassOf 'Ehlers-Danlos syndrome, periodontitis type' 'Ehlers-Danlos syndrome, periodontal type 2' SubClassOf 'Ehlers-Danlos syndrome, periodontitis type' http://purl.obolibrary.org/obo/MONDO_0014952 intellectual disability-epilepsy-extrapyramidal syndrome 'intellectual disability-epilepsy-extrapyramidal syndrome' SubClassOf 'syndromic disease' 'intellectual disability-epilepsy-extrapyramidal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0000316 opportunistic bacterial infectious disease 'opportunistic bacterial infectious disease' SubClassOf 'bacterial disease' 'opportunistic bacterial infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0000315 commensal bacterial infectious disease 'commensal bacterial infectious disease' SubClassOf 'bacterial disease' 'commensal bacterial infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0000320 glandular tularemia 'glandular tularemia' SubClassOf 'lymph node disorder' 'glandular tularemia' SubClassOf 'Tularemia' 'glandular tularemia' SubClassOf 'lymph node disorder' 'glandular tularemia' SubClassOf 'Tularemia' http://purl.obolibrary.org/obo/MONDO_0014969 isolated sedoheptulokinase deficiency 'isolated sedoheptulokinase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'isolated sedoheptulokinase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0014968 encephalopathy, progressive, with amyotrophy and optic atrophy 'encephalopathy, progressive, with amyotrophy and optic atrophy' SubClassOf 'Mendelian encephalopathy' 'encephalopathy, progressive, with amyotrophy and optic atrophy' SubClassOf 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014962 intellectual disability, autosomal recessive 57 'intellectual disability, autosomal recessive 57' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 57' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014963 Shashi-Pena syndrome 'Shashi-Pena syndrome' SubClassOf 'genetic disorder' 'Shashi-Pena syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000328 hyperphosphatemia 'hyperphosphatemia' SubClassOf 'phosphorus metabolism disease' 'hyperphosphatemia' SubClassOf 'phosphorus metabolism disease' http://purl.obolibrary.org/obo/MONDO_0000327 Buruli ulcer disease 'Buruli ulcer disease' SubClassOf 'primary bacterial infectious disease' 'Buruli ulcer disease' SubClassOf 'primary bacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0000334 multinodular goiter 'multinodular goiter' SubClassOf 'nodular goiter' 'multinodular goiter' SubClassOf 'nodular goiter' http://purl.obolibrary.org/obo/MONDO_0014975 autosomal recessive spastic paraplegia type 78 'autosomal recessive spastic paraplegia type 78' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal recessive spastic paraplegia type 78' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0000341 paralytic poliomyelitis 'paralytic poliomyelitis' SubClassOf 'poliomyelitis' 'paralytic poliomyelitis' SubClassOf 'poliomyelitis' http://purl.obolibrary.org/obo/MONDO_0024311 cancer affecting bone of limb skeleton 'cancer affecting bone of limb skeleton' SubClassOf 'Malignant Bone Neoplasm' 'cancer affecting bone of limb skeleton' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/MONDO_0024315 parasitic endophthalmitis 'parasitic endophthalmitis' SubClassOf 'endophthalmitis' 'parasitic endophthalmitis' SubClassOf 'endophthalmitis' http://purl.obolibrary.org/obo/MONDO_0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; 'lung disease, immunodeficiency, and chromosome breakage syndrome;' SubClassOf 'genetic disorder' 'lung disease, immunodeficiency, and chromosome breakage syndrome;' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014981 immunodeficiency 49 'immunodeficiency 49' SubClassOf 'inborn error of immunity' 'immunodeficiency 49' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 49' SubClassOf 'inborn error of immunity' 'immunodeficiency 49' SubClassOf 'familial severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014987 Fanconi anemia complementation group U 'Fanconi anemia complementation group U' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group U' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0014986 Fanconi anemia complementation group R 'Fanconi anemia complementation group R' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group R' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0014985 Fanconi anemia complementation group V 'Fanconi anemia complementation group V' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group V' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0024301 acquired mineral metabolism disease 'acquired mineral metabolism disease' SubClassOf 'acquired metabolic disease' 'acquired mineral metabolism disease' SubClassOf 'acquired metabolic disease' http://purl.obolibrary.org/obo/MONDO_0024300 hypophosphatemic rickets 'hypophosphatemic rickets' SubClassOf 'rickets' 'hypophosphatemic rickets' SubClassOf 'rickets' http://purl.obolibrary.org/obo/MONDO_0000351 disorder of methionine catabolism 'disorder of methionine catabolism' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'disorder of methionine catabolism' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft 'orofacial cleft' SubClassOf 'disease_has_basis_in_development_of' some 'embryonic facial prominence' 'orofacial cleft' SubClassOf 'disease has major feature' some 'Orofacial cleft' 'orofacial cleft' SubClassOf 'disorder of facial skeleton' 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Orofacial cleft' 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_basis_in_development_of some 'embryonic facial prominence' 'orofacial cleft' SubClassOf 'disorder of facial skeleton' http://purl.obolibrary.org/obo/MONDO_0024305 acquired hyperprolactinemia 'acquired hyperprolactinemia' SubClassOf 'acquired metabolic disease' 'acquired hyperprolactinemia' SubClassOf 'acquired metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000355 Ullrich congenital muscular dystrophy 'Ullrich congenital muscular dystrophy' SubClassOf 'congenital myopathy' 'Ullrich congenital muscular dystrophy' SubClassOf 'congenital muscular dystrophy' 'Ullrich congenital muscular dystrophy' SubClassOf 'congenital myopathy' 'Ullrich congenital muscular dystrophy' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0024304 ichthyosis vulgaris 'ichthyosis vulgaris' SubClassOf 'inherited ichthyosis' 'ichthyosis vulgaris' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0014994 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 'global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies' SubClassOf 'genetic disorder' 'global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014993 myofibrillar myopathy 8 'myofibrillar myopathy 8' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 8' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0014996 intellectual disability, autosomal recessive 58 'intellectual disability, autosomal recessive 58' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 58' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0024307 prothrombin deficiency 'prothrombin deficiency' SubClassOf 'hemorrhagic disease' 'prothrombin deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0024306 acquired lactic acidosis 'acquired lactic acidosis' SubClassOf 'acquired metabolic disease' 'acquired lactic acidosis' SubClassOf 'acquired metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000359 spondylocostal dysostosis 'spondylocostal dysostosis' SubClassOf 'genetic disorder' 'spondylocostal dysostosis' SubClassOf 'dysostosis' 'spondylocostal dysostosis' SubClassOf 'genetic disorder' 'spondylocostal dysostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0000365 primary congenital glaucoma 'primary congenital glaucoma' SubClassOf 'congenital glaucoma' 'primary congenital glaucoma' SubClassOf 'congenital glaucoma' http://purl.obolibrary.org/obo/MONDO_0000369 abdominal tuberculosis 'abdominal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'abdominal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://purl.obolibrary.org/obo/MONDO_0024336 vulvar adenocarcinoma 'vulvar adenocarcinoma' SubClassOf 'vulvar carcinoma' 'vulvar adenocarcinoma' SubClassOf 'adenocarcinoma' 'vulvar adenocarcinoma' SubClassOf 'vulvar glandular neoplasm' 'vulvar adenocarcinoma' SubClassOf 'adenocarcinoma' 'vulvar adenocarcinoma' SubClassOf 'vulvar carcinoma' 'vulvar adenocarcinoma' SubClassOf 'vulvar glandular neoplasm' http://purl.obolibrary.org/obo/MONDO_0000368 extrapulmonary tuberculosis 'extrapulmonary tuberculosis' SubClassOf 'tuberculosis' 'extrapulmonary tuberculosis' SubClassOf 'tuberculosis' http://purl.obolibrary.org/obo/MONDO_0024338 mucinous neoplasm 'mucinous neoplasm' SubClassOf 'glandular cell neoplasm' 'mucinous neoplasm' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm 'urothelial neoplasm' SubClassOf 'transitional cell neoplasm' 'urothelial neoplasm' SubClassOf 'urinary system neoplasm' 'urothelial neoplasm' SubClassOf 'transitional cell neoplasm' 'urothelial neoplasm' SubClassOf 'urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0024330 infectious otitis media 'infectious otitis media' SubClassOf 'Otitis media' 'infectious otitis media' SubClassOf 'ear infection' 'infectious otitis media' SubClassOf 'Otitis media' 'infectious otitis media' SubClassOf 'ear infection' http://purl.obolibrary.org/obo/MONDO_0024339 lymph node neoplasm 'lymph node neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'lymph node neoplasm' SubClassOf 'lymph node disorder' 'lymph node neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'lymph node neoplasm' SubClassOf 'lymph node disorder' http://purl.obolibrary.org/obo/MONDO_0000376 respiratory system cancer 'respiratory system cancer' SubClassOf 'respiratory system disease' 'respiratory system cancer' SubClassOf 'cancer' 'respiratory system cancer' SubClassOf 'respiratory system disease' 'respiratory system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0024321 disorder of GPI anchor biosynthesis 'disorder of GPI anchor biosynthesis' SubClassOf 'disorder of glycosylation' 'disorder of GPI anchor biosynthesis' SubClassOf 'disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0024320 inner ear neoplasm 'inner ear neoplasm' SubClassOf 'ear neoplasm' 'inner ear neoplasm' SubClassOf 'inner ear disease' 'inner ear neoplasm' SubClassOf 'ear neoplasm' 'inner ear neoplasm' SubClassOf 'inner ear disease' http://purl.obolibrary.org/obo/MONDO_0000373 gall bladder carcinoma in situ 'gall bladder carcinoma in situ' SubClassOf 'in situ carcinoma' 'gall bladder carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0024327 chronic renal failure syndrome 'chronic renal failure syndrome' SubClassOf 'chronic kidney disease' 'chronic renal failure syndrome' SubClassOf 'kidney failure' 'chronic renal failure syndrome' SubClassOf 'chronic kidney disease' 'chronic renal failure syndrome' SubClassOf 'kidney failure' http://purl.obolibrary.org/obo/MONDO_0000377 malignant Leydig cell tumor 'malignant Leydig cell tumor' SubClassOf 'Leydig Cell Tumor' 'malignant Leydig cell tumor' SubClassOf 'Leydig Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0000372 pharynx carcinoma in situ 'pharynx carcinoma in situ' SubClassOf 'in situ carcinoma' 'pharynx carcinoma in situ' SubClassOf 'carcinoma of pharynx' 'pharynx carcinoma in situ' SubClassOf 'in situ carcinoma' 'pharynx carcinoma in situ' SubClassOf 'carcinoma of pharynx' http://purl.obolibrary.org/obo/MONDO_0000371 oral cavity carcinoma in situ 'oral cavity carcinoma in situ' SubClassOf 'oral cavity carcinoma' 'oral cavity carcinoma in situ' SubClassOf 'in situ carcinoma' 'oral cavity carcinoma in situ' SubClassOf 'oral cavity carcinoma' 'oral cavity carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0000387 hypochromic microcytic anemia 'hypochromic microcytic anemia' SubClassOf 'hypochromic anemia' 'hypochromic microcytic anemia' SubClassOf 'microcytic anemia' 'hypochromic microcytic anemia' SubClassOf 'hypochromic anemia' 'hypochromic microcytic anemia' SubClassOf 'microcytic anemia' http://purl.obolibrary.org/obo/MONDO_0024354 cytomegalovirus pneumonia 'cytomegalovirus pneumonia' SubClassOf 'cytomegalovirus infection' 'cytomegalovirus pneumonia' SubClassOf 'cytomegalovirus infection' http://purl.obolibrary.org/obo/MONDO_0000385 benign digestive system neoplasm 'benign digestive system neoplasm' SubClassOf 'digestive system disease' 'benign digestive system neoplasm' SubClassOf 'digestive system neoplasm' 'benign digestive system neoplasm' SubClassOf 'benign neoplasm' 'benign digestive system neoplasm' SubClassOf 'digestive system disease' 'benign digestive system neoplasm' SubClassOf 'digestive system neoplasm' 'benign digestive system neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000384 bladder benign neoplasm 'bladder benign neoplasm' SubClassOf 'bladder tumor' 'bladder benign neoplasm' SubClassOf 'benign urinary system neoplasm' 'bladder benign neoplasm' SubClassOf 'bladder tumor' 'bladder benign neoplasm' SubClassOf 'benign urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0024358 complex sleep apnea 'complex sleep apnea' SubClassOf 'obstructive sleep apnea' 'complex sleep apnea' SubClassOf 'central sleep apnea syndrome' 'complex sleep apnea' SubClassOf 'obstructive sleep apnea' 'complex sleep apnea' SubClassOf 'central sleep apnea syndrome' http://purl.obolibrary.org/obo/MONDO_0000389 atelosteogenesis 'atelosteogenesis' SubClassOf 'osteochondrodysplasia' 'atelosteogenesis' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0000383 benign reproductive system neoplasm 'benign reproductive system neoplasm' SubClassOf 'benign neoplasm' 'benign reproductive system neoplasm' SubClassOf 'reproductive system neoplasm' 'benign reproductive system neoplasm' SubClassOf 'benign neoplasm' 'benign reproductive system neoplasm' SubClassOf 'reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0000382 respiratory system benign neoplasm 'respiratory system benign neoplasm' SubClassOf 'benign neoplasm' 'respiratory system benign neoplasm' SubClassOf 'respiratory system disease' 'respiratory system benign neoplasm' SubClassOf 'benign neoplasm' 'respiratory system benign neoplasm' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0000381 infiltrating renal pelvis transitional cell carcinoma 'infiltrating renal pelvis transitional cell carcinoma' SubClassOf 'transitional cell carcinoma of kidney' 'infiltrating renal pelvis transitional cell carcinoma' SubClassOf 'transitional cell carcinoma of kidney' http://purl.obolibrary.org/obo/MONDO_0024352 viral respiratory tract infection 'viral respiratory tract infection' SubClassOf 'viral disease' 'viral respiratory tract infection' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0000380 paranasal sinus carcinoma 'paranasal sinus carcinoma' SubClassOf 'nasal cavity and paranasal sinus carcinoma' 'paranasal sinus carcinoma' SubClassOf 'nasal cavity and paranasal sinus carcinoma' http://purl.obolibrary.org/obo/MONDO_0000397 ataxic cerebral palsy 'ataxic cerebral palsy' SubClassOf 'cerebral palsy' 'ataxic cerebral palsy' SubClassOf 'cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0000396 spastic cerebral palsy 'spastic cerebral palsy' SubClassOf 'cerebral palsy' 'spastic cerebral palsy' SubClassOf 'cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0000390 vitelliform macular dystrophy 'vitelliform macular dystrophy' SubClassOf 'hereditary macular dystrophy' 'vitelliform macular dystrophy' SubClassOf 'macular degeneration' 'vitelliform macular dystrophy' SubClassOf 'hereditary macular dystrophy' 'vitelliform macular dystrophy' SubClassOf 'macular degeneration' http://purl.obolibrary.org/obo/MONDO_0024341 retinal cell neoplasm 'retinal cell neoplasm' SubClassOf 'Retinal Neoplasm' 'retinal cell neoplasm' SubClassOf 'Retinal Neoplasm' http://purl.obolibrary.org/obo/MONDO_0024340 retinal neuroblastoma 'retinal neuroblastoma' SubClassOf 'neuroblastoma' 'retinal neuroblastoma' EquivalentTo 'neuroblastoma' and ('disease has location' some 'retina') 'retinal neuroblastoma' SubClassOf 'neuroblastoma' 'retinal neuroblastoma' EquivalentTo 'neuroblastoma' and ('disease has location' some 'retina') http://www.ebi.ac.uk/efo/EFO_0007441 placenta disease 'placenta disease' SubClassOf 'pregnancy disorder' 'placenta disease' SubClassOf 'uterine disorder' 'placenta disease' SubClassOf 'pregnancy disorder' 'placenta disease' SubClassOf 'uterine disorder' http://www.ebi.ac.uk/efo/EFO_0007440 placenta accreta 'placenta accreta' SubClassOf 'placenta disease' 'placenta accreta' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_0007445 Plasmodium vivax malaria 'Plasmodium vivax malaria' SubClassOf 'malaria' 'Plasmodium vivax malaria' SubClassOf 'malaria' http://www.ebi.ac.uk/efo/EFO_0007444 Plasmodium falciparum malaria 'Plasmodium falciparum malaria' SubClassOf 'malaria' 'Plasmodium falciparum malaria' SubClassOf 'malaria' http://purl.obolibrary.org/obo/MONDO_0000169 microphthalmia, isolated, with cataract 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' http://www.ebi.ac.uk/efo/EFO_0007443 placental insufficiency 'placental insufficiency' SubClassOf 'placenta disease' 'placental insufficiency' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_0007442 placenta praevia 'placenta praevia' SubClassOf 'placenta disease' 'placenta praevia' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_0007449 pneumonic pasteurellosis 'pneumonic pasteurellosis' SubClassOf 'bacterial disease' 'pneumonic pasteurellosis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0007448 pneumocystosis 'pneumocystosis' SubClassOf 'pneumonia' 'pneumocystosis' SubClassOf 'opportunistic mycosis' 'pneumocystosis' SubClassOf 'pneumonia' 'pneumocystosis' SubClassOf 'opportunistic mycosis' http://www.ebi.ac.uk/efo/EFO_0007446 pleural tuberculosis 'pleural tuberculosis' SubClassOf 'pleurisy' 'pleural tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'pleural tuberculosis' SubClassOf 'pleurisy' 'pleural tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://purl.obolibrary.org/obo/MONDO_0000162 autoimmune thyroid disease, susceptibility to 'autoimmune thyroid disease, susceptibility to' SubClassOf 'predisposes towards' some 'autoimmune thyroid disease' 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autoimmune thyroid disease') 'autoimmune thyroid disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autoimmune thyroid disease' 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autoimmune thyroid disease') http://purl.obolibrary.org/obo/MONDO_0700127 mosaic trisomy 21 'mosaic trisomy 21' SubClassOf 'trisomy 21' 'mosaic trisomy 21' SubClassOf 'trisomy 21' http://purl.obolibrary.org/obo/MONDO_0700123 SMARCC1-associated developmental dysgenesis syndrome 'SMARCC1-associated developmental dysgenesis syndrome' SubClassOf 'BAFopathy' 'SMARCC1-associated developmental dysgenesis syndrome' SubClassOf 'BAFopathy' http://purl.obolibrary.org/obo/MONDO_0700120 BAFopathy 'BAFopathy' SubClassOf 'genetic disorder' 'BAFopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700122 PBRM1-related BAFopathy 'PBRM1-related BAFopathy' SubClassOf 'BAFopathy' 'PBRM1-related BAFopathy' SubClassOf 'BAFopathy' http://purl.obolibrary.org/obo/MONDO_0700121 ACTL6A-related BAFopathy 'ACTL6A-related BAFopathy' SubClassOf 'BAFopathy' 'ACTL6A-related BAFopathy' SubClassOf 'BAFopathy' http://www.ebi.ac.uk/efo/EFO_0007430 persian gulf syndrome 'persian gulf syndrome' SubClassOf 'syndromic disease' 'persian gulf syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007434 pharyngoconjunctival fever 'pharyngoconjunctival fever' SubClassOf 'viral disease' 'pharyngoconjunctival fever' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007433 phagocyte bactericidal dysfunction 'phagocyte bactericidal dysfunction' SubClassOf 'leukocyte disorder' 'phagocyte bactericidal dysfunction' SubClassOf 'inborn error of immunity' 'phagocyte bactericidal dysfunction' SubClassOf 'leukocyte disorder' 'phagocyte bactericidal dysfunction' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome 'Neu-Laxova syndrome' SubClassOf 'lissencephaly type 3' 'Neu-Laxova syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neu-Laxova syndrome' SubClassOf 'syndromic disease' 'Neu-Laxova syndrome' SubClassOf '3-phosphoglycerate dehydrogenase deficiency' 'Neu-Laxova syndrome' SubClassOf 'integumentary system disease' 'Neu-Laxova syndrome' SubClassOf 'lissencephaly type 3' 'Neu-Laxova syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Neu-Laxova syndrome' SubClassOf 'syndromic disease' 'Neu-Laxova syndrome' SubClassOf '3-phosphoglycerate dehydrogenase deficiency' 'Neu-Laxova syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0000170 microphthalmia, isolated, with coloboma 'microphthalmia, isolated, with coloboma' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' 'microphthalmia, isolated, with coloboma' SubClassOf 'isolated microphthalmia' 'microphthalmia, isolated, with coloboma' SubClassOf 'coloboma' 'microphthalmia, isolated, with coloboma' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' 'microphthalmia, isolated, with coloboma' SubClassOf 'isolated microphthalmia' 'microphthalmia, isolated, with coloboma' SubClassOf 'coloboma' http://www.ebi.ac.uk/efo/EFO_0007437 Phlebotomus fever 'Phlebotomus fever' SubClassOf 'vector-borne disease' 'Phlebotomus fever' SubClassOf 'vector-borne disease' http://www.ebi.ac.uk/efo/EFO_0007436 phencyclidine abuse 'phencyclidine abuse' SubClassOf 'substance abuse' 'phencyclidine abuse' SubClassOf 'drug dependence' 'phencyclidine abuse' SubClassOf 'substance abuse' 'phencyclidine abuse' SubClassOf 'drug dependence' http://purl.obolibrary.org/obo/MONDO_0000173 muscular dystrophy-dystroglycanopathy, type C 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0000172 muscular dystrophy-dystroglycanopathy, type B 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://www.ebi.ac.uk/efo/EFO_0007439 pityriasis versicolor 'pityriasis versicolor' SubClassOf 'superficial mycosis' 'pityriasis versicolor' SubClassOf 'exanthem' 'pityriasis versicolor' SubClassOf 'superficial mycosis' 'pityriasis versicolor' SubClassOf 'exanthem' http://purl.obolibrary.org/obo/MONDO_0700117 SLC6A3-related dopamine transporter deficiency syndrome 'SLC6A3-related dopamine transporter deficiency syndrome' SubClassOf 'movement disorder' 'SLC6A3-related dopamine transporter deficiency syndrome' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0700116 microcephaly with lissencephaly and/or hydranencephaly 'microcephaly with lissencephaly and/or hydranencephaly' SubClassOf 'microcephaly' 'microcephaly with lissencephaly and/or hydranencephaly' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0700112 heterotaxy, visceral, 5, autosomal 'heterotaxy, visceral, 5, autosomal' SubClassOf 'visceral heterotaxy' 'heterotaxy, visceral, 5, autosomal' SubClassOf 'visceral heterotaxy' http://www.ebi.ac.uk/efo/EFO_0007463 renal tuberculosis 'renal tuberculosis' SubClassOf 'kidney disease' 'renal tuberculosis' SubClassOf 'urogenital tuberculosis' 'renal tuberculosis' SubClassOf 'kidney disease' 'renal tuberculosis' SubClassOf 'urogenital tuberculosis' http://purl.obolibrary.org/obo/MONDO_0000188 GLUT1 deficiency syndrome 'GLUT1 deficiency syndrome' SubClassOf 'metabolic epilepsy' 'GLUT1 deficiency syndrome' SubClassOf 'metabolic epilepsy' http://www.ebi.ac.uk/efo/EFO_0007462 REM sleep behavior disorder 'REM sleep behavior disorder' SubClassOf 'sleep-wake disorder' 'REM sleep behavior disorder' SubClassOf 'sleep-wake disorder' http://www.ebi.ac.uk/efo/EFO_0007461 recurrent pneumonia 'recurrent pneumonia' SubClassOf 'pneumonia' 'recurrent pneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007460 reactive arthritis 'reactive arthritis' SubClassOf 'rheumatic disease' 'reactive arthritis' SubClassOf 'arthritis' 'reactive arthritis' SubClassOf 'rheumatic disease' 'reactive arthritis' SubClassOf 'arthritis' http://www.ebi.ac.uk/efo/EFO_0007467 Reye syndrome 'Reye syndrome' SubClassOf 'rheumatic disease' 'Reye syndrome' SubClassOf 'syndromic disease' 'Reye syndrome' SubClassOf 'brain disease' 'Reye syndrome' SubClassOf 'rheumatic disease' 'Reye syndrome' SubClassOf 'syndromic disease' 'Reye syndrome' SubClassOf 'brain disease' http://www.ebi.ac.uk/efo/EFO_0007466 retroperitoneal cancer 'retroperitoneal cancer' SubClassOf 'cancer' 'retroperitoneal cancer' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_0007464 Reoviridae infectious disease 'Reoviridae infectious disease' SubClassOf 'viral disease' 'Reoviridae infectious disease' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0000181 microcephaly and chorioretinopathy 'microcephaly and chorioretinopathy' SubClassOf 'microcephaly' 'microcephaly and chorioretinopathy' SubClassOf 'microcephaly' http://www.ebi.ac.uk/efo/EFO_0007470 rhinoscleroma 'rhinoscleroma' SubClassOf 'primary bacterial infectious disease' 'rhinoscleroma' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007452 post-thrombotic syndrome 'post-thrombotic syndrome' SubClassOf 'venous insufficiency' 'post-thrombotic syndrome' SubClassOf 'venous insufficiency' http://www.ebi.ac.uk/efo/EFO_0007450 poliomyelitis 'poliomyelitis' SubClassOf 'poliovirus infection' 'poliomyelitis' SubClassOf 'Myelitis' 'poliomyelitis' SubClassOf 'acquired motor neuron disease' 'poliomyelitis' SubClassOf 'viral infection of central nervous system' 'poliomyelitis' SubClassOf 'anterior horn disorder' 'poliomyelitis' SubClassOf 'poliovirus infection' 'poliomyelitis' SubClassOf 'Myelitis' 'poliomyelitis' SubClassOf 'acquired motor neuron disease' 'poliomyelitis' SubClassOf 'viral infection of central nervous system' 'poliomyelitis' SubClassOf 'anterior horn disorder' http://www.ebi.ac.uk/efo/EFO_0007455 progressive multifocal leukoencephalopathy 'progressive multifocal leukoencephalopathy' SubClassOf 'infectious encephalitis' 'progressive multifocal leukoencephalopathy' SubClassOf 'infectious encephalitis' http://www.ebi.ac.uk/efo/EFO_0007454 postpoliomyelitis syndrome 'postpoliomyelitis syndrome' SubClassOf 'disease has location' some 'muscle cell' 'postpoliomyelitis syndrome' SubClassOf 'poliomyelitis' 'postpoliomyelitis syndrome' SubClassOf 'disease has location' some 'muscle cell' 'postpoliomyelitis syndrome' SubClassOf 'poliomyelitis' http://www.ebi.ac.uk/efo/EFO_0007453 postpartum depression 'postpartum depression' SubClassOf 'depressive disorder' 'postpartum depression' SubClassOf 'depressive disorder' http://purl.obolibrary.org/obo/MONDO_0000192 polyglucosan body myopathy 'polyglucosan body myopathy' SubClassOf 'myopathy' 'polyglucosan body myopathy' SubClassOf 'myopathy' http://www.ebi.ac.uk/efo/EFO_0007458 pulmonary blastoma 'pulmonary blastoma' SubClassOf 'blastoma' 'pulmonary blastoma' SubClassOf 'Lung Sarcomatoid Carcinoma' 'pulmonary blastoma' SubClassOf 'blastoma' 'pulmonary blastoma' SubClassOf 'Lung Sarcomatoid Carcinoma' http://www.ebi.ac.uk/efo/EFO_0007457 pseudorabies 'pseudorabies' SubClassOf 'viral disease' 'pseudorabies' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0000193 cortisone reductase deficiency 'cortisone reductase deficiency' SubClassOf 'reproductive system disease' 'cortisone reductase deficiency' SubClassOf 'adrenogenital syndrome' 'cortisone reductase deficiency' SubClassOf 'disease disrupts' some '11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity' 'cortisone reductase deficiency' SubClassOf 'adrenogenital syndrome' 'cortisone reductase deficiency' SubClassOf 'reproductive system disease' 'cortisone reductase deficiency' SubClassOf 'disease disrupts' some '11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity' http://www.ebi.ac.uk/efo/EFO_0007485 silicosis 'silicosis' SubClassOf 'pneumoconiosis' 'silicosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_0007484 sick building syndrome 'sick building syndrome' SubClassOf 'hypersensitivity pneumonitis' 'sick building syndrome' SubClassOf 'hypersensitivity pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007482 setariasis 'setariasis' SubClassOf 'filariasis' 'setariasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007489 sphenoid sinusitis 'sphenoid sinusitis' SubClassOf 'sinusitis' 'sphenoid sinusitis' SubClassOf 'sinusitis' http://www.ebi.ac.uk/efo/EFO_0007487 skeletal tuberculosis 'skeletal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'skeletal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007486 sinusitis 'sinusitis' SubClassOf 'paranasal sinus disease' 'sinusitis' SubClassOf 'paranasal sinus disease' http://www.ebi.ac.uk/efo/EFO_0007491 spleen cancer 'spleen cancer' SubClassOf 'lymphatic system cancer' 'spleen cancer' SubClassOf 'digestive system cancer' 'spleen cancer' SubClassOf 'lymphatic system cancer' 'spleen cancer' SubClassOf 'digestive system cancer' http://www.ebi.ac.uk/efo/EFO_0007490 spinal stenosis 'spinal stenosis' SubClassOf 'disease of bone structure' 'spinal stenosis' SubClassOf 'disease of bone structure' http://www.ebi.ac.uk/efo/EFO_0007473 Ritter's disease 'Ritter's disease' SubClassOf 'staphylococcal toxemia' 'Ritter's disease' SubClassOf 'commensal bacterial infectious disease' 'Ritter's disease' SubClassOf 'staphylococcal toxemia' 'Ritter's disease' SubClassOf 'commensal bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007471 rhinosporidiosis 'rhinosporidiosis' SubClassOf 'parasitic Ichthyosporea infectious disease' 'rhinosporidiosis' SubClassOf 'parasitic Ichthyosporea infectious disease' http://www.ebi.ac.uk/efo/EFO_0007478 scirrhous adenocarcinoma 'scirrhous adenocarcinoma' SubClassOf 'adenocarcinoma' 'scirrhous adenocarcinoma' SubClassOf 'disease has location' some 'stromal cell' 'scirrhous adenocarcinoma' SubClassOf 'adenocarcinoma' 'scirrhous adenocarcinoma' SubClassOf 'disease has location' some 'stromal cell' http://www.ebi.ac.uk/efo/EFO_0007476 sarcocystosis 'sarcocystosis' SubClassOf 'coccidiosis' 'sarcocystosis' SubClassOf 'coccidiosis' http://www.ebi.ac.uk/efo/EFO_0007479 screw worm infectious disease 'screw worm infectious disease' SubClassOf 'myiasis' 'screw worm infectious disease' SubClassOf 'myiasis' http://www.ebi.ac.uk/efo/EFO_0007481 septicemic plague 'septicemic plague' SubClassOf 'Yersinia pestis infectious disease' 'septicemic plague' SubClassOf 'Yersinia pestis infectious disease' http://www.ebi.ac.uk/efo/EFO_0007480 scrub typhus 'scrub typhus' SubClassOf 'bacterial hemorrhagic fever' 'scrub typhus' SubClassOf 'typhus' 'scrub typhus' SubClassOf 'bacterial hemorrhagic fever' 'scrub typhus' SubClassOf 'typhus' http://purl.obolibrary.org/obo/MONDO_0024189 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset' SubClassOf 'genetic disorder' 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007495 St. Louis encephalitis 'St. Louis encephalitis' SubClassOf 'Flaviviridae infectious disease' 'St. Louis encephalitis' SubClassOf 'Flaviviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007494 sporotrichosis 'sporotrichosis' SubClassOf 'fungal infectious disease' 'sporotrichosis' SubClassOf 'fungal infectious disease' http://www.ebi.ac.uk/efo/EFO_0007493 spondylolisthesis 'spondylolisthesis' SubClassOf 'disease of bone structure' 'spondylolisthesis' SubClassOf 'genetic disorder' 'spondylolisthesis' SubClassOf 'disease of bone structure' 'spondylolisthesis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007499 streptococcal pneumonia 'streptococcal pneumonia' SubClassOf 'bacterial pneumonia' 'streptococcal pneumonia' SubClassOf 'pneumococcal infection' 'streptococcal pneumonia' SubClassOf 'bacterial pneumonia' 'streptococcal pneumonia' SubClassOf 'pneumococcal infection' http://www.ebi.ac.uk/efo/EFO_0007498 Stiff-Person syndrome 'Stiff-Person syndrome' SubClassOf 'syndromic disease' 'Stiff-Person syndrome' SubClassOf 'nervous system disease' 'Stiff-Person syndrome' SubClassOf 'syndromic disease' 'Stiff-Person syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0007497 staphyloenterotoxemia 'staphyloenterotoxemia' SubClassOf 'primary bacterial infectious disease' 'staphyloenterotoxemia' SubClassOf 'staphylococcal skin infections' 'staphyloenterotoxemia' SubClassOf 'primary bacterial infectious disease' 'staphyloenterotoxemia' SubClassOf 'staphylococcal skin infections' http://purl.obolibrary.org/obo/MONDO_0024183 wet beriberi 'wet beriberi' SubClassOf 'beriberi' 'wet beriberi' SubClassOf 'beriberi' http://purl.obolibrary.org/obo/MONDO_0014805 Hao-Fountain syndrome 'Hao-Fountain syndrome' SubClassOf 'Neurodevelopmental disorder' 'Hao-Fountain syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0014804 sideroblastic anemia 3 'sideroblastic anemia 3' SubClassOf 'mitochondrial substrate carrier disorder' 'sideroblastic anemia 3' SubClassOf 'mitochondrial substrate carrier disorder' http://purl.obolibrary.org/obo/MONDO_0014803 spasticity-ataxia-gait anomalies syndrome 'spasticity-ataxia-gait anomalies syndrome' SubClassOf 'inherited lipoic acid biosynthesis defect' 'spasticity-ataxia-gait anomalies syndrome' SubClassOf 'spastic ataxia' 'spasticity-ataxia-gait anomalies syndrome' SubClassOf 'inherited lipoic acid biosynthesis defect' 'spasticity-ataxia-gait anomalies syndrome' SubClassOf 'spastic ataxia' http://purl.obolibrary.org/obo/MONDO_0014802 Cowden syndrome 7 'Cowden syndrome 7' SubClassOf 'Cowden disease' 'Cowden syndrome 7' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0014809 DDX41-related hematologic malignancy predisposition syndrome 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'hereditary neoplastic syndrome' 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'predisposes towards' some 'Myelodysplastic/Myeloproliferative Neoplasm' 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'hereditary neoplastic syndrome' 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Myelodysplastic/Myeloproliferative Neoplasm' http://purl.obolibrary.org/obo/MONDO_0014807 spinal muscular atrophy with congenital bone fractures 2 'spinal muscular atrophy with congenital bone fractures 2' SubClassOf 'prenatal-onset spinal muscular atrophy with congenital bone fractures' 'spinal muscular atrophy with congenital bone fractures 2' SubClassOf 'prenatal-onset spinal muscular atrophy with congenital bone fractures' http://purl.obolibrary.org/obo/MONDO_0014806 spinal muscular atrophy with congenital bone fractures 1 'spinal muscular atrophy with congenital bone fractures 1' SubClassOf 'prenatal-onset spinal muscular atrophy with congenital bone fractures' 'spinal muscular atrophy with congenital bone fractures 1' SubClassOf 'prenatal-onset spinal muscular atrophy with congenital bone fractures' http://purl.obolibrary.org/obo/MONDO_0014801 even-plus syndrome 'even-plus syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'even-plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'even-plus syndrome' SubClassOf 'syndromic disease' 'even-plus syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'even-plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'even-plus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014800 progressive scapulohumeroperoneal distal myopathy 'progressive scapulohumeroperoneal distal myopathy' SubClassOf 'alpha-actinopathy' 'progressive scapulohumeroperoneal distal myopathy' SubClassOf 'progressive muscular dystrophy' 'progressive scapulohumeroperoneal distal myopathy' SubClassOf 'alpha-actinopathy' 'progressive scapulohumeroperoneal distal myopathy' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014816 split-foot malformation-mesoaxial polydactyly syndrome 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'genetic disorder' 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'genetic disorder' 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014813 hypomyelinating leukodystrophy 13 'hypomyelinating leukodystrophy 13' SubClassOf 'leukodystrophy' 'hypomyelinating leukodystrophy 13' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; 'cerebellar atrophy, visual impairment, and psychomotor retardation;' SubClassOf 'complex neurodevelopmental disorder with motor features' 'cerebellar atrophy, visual impairment, and psychomotor retardation;' SubClassOf 'complex neurodevelopmental disorder with motor features' http://purl.obolibrary.org/obo/MONDO_0014810 pancytopenia due to IKZF1 mutations 'pancytopenia due to IKZF1 mutations' SubClassOf 'common variable immunodeficiency' 'pancytopenia due to IKZF1 mutations' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014822 15q14 microdeletion syndrome '15q14 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' '15q14 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 15' http://purl.obolibrary.org/obo/MONDO_0014821 complex lethal osteochondrodysplasia 'complex lethal osteochondrodysplasia' SubClassOf 'skeletal dysplasia' 'complex lethal osteochondrodysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 'mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014836 Charcot-Marie-Tooth disease axonal type 2CC 'Charcot-Marie-Tooth disease axonal type 2CC' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2CC' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014835 striatal degeneration, autosomal dominant 2 'striatal degeneration, autosomal dominant 2' SubClassOf 'striatal degeneration, autosomal dominant' 'striatal degeneration, autosomal dominant 2' SubClassOf 'striatal degeneration, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0014839 chorea, childhood-onset, with psychomotor retardation 'chorea, childhood-onset, with psychomotor retardation' SubClassOf 'genetic disorder' 'chorea, childhood-onset, with psychomotor retardation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014832 intellectual disability, autosomal recessive 53 'intellectual disability, autosomal recessive 53' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'intellectual disability, autosomal recessive 53' SubClassOf 'syndromic intellectual disability' 'intellectual disability, autosomal recessive 53' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'intellectual disability, autosomal recessive 53' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014831 progeroid and marfanoid aspect-lipodystrophy syndrome 'progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'hereditary disorder of connective tissue' 'progeroid and marfanoid aspect-lipodystrophy syndrome' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0000200 Zimmermann-Laband syndrome 'Zimmermann-Laband syndrome' SubClassOf 'genetic disorder' 'Zimmermann-Laband syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014847 spermatogenic failure 15 'spermatogenic failure 15' SubClassOf 'azoospermia' 'spermatogenic failure 15' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0014846 spinocerebellar ataxia, autosomal recessive 23 'spinocerebellar ataxia, autosomal recessive 23' SubClassOf 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' 'spinocerebellar ataxia, autosomal recessive 23' SubClassOf 'autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0014844 premature ovarian failure 12 'premature ovarian failure 12' SubClassOf 'inherited primary ovarian failure' 'premature ovarian failure 12' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0014843 premature ovarian failure 11 'premature ovarian failure 11' SubClassOf 'inherited primary ovarian failure' 'premature ovarian failure 11' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0014842 intellectual disability, autosomal dominant 41 'intellectual disability, autosomal dominant 41' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 41' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0700087 Usher syndrome type 1B 'Usher syndrome type 1B' SubClassOf 'Usher syndrome type 1' 'Usher syndrome type 1B' SubClassOf 'Usher syndrome type 1' http://purl.obolibrary.org/obo/MONDO_0700086 uniparental disomy 'uniparental disomy' SubClassOf 'chromosomal disorder' 'uniparental disomy' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0700089 paroxysmal nonkinesigenic dyskinesia 1 'paroxysmal nonkinesigenic dyskinesia 1' SubClassOf 'paroxysmal nonkinesigenic dyskinesia' 'paroxysmal nonkinesigenic dyskinesia 1' SubClassOf 'paroxysmal nonkinesigenic dyskinesia' http://purl.obolibrary.org/obo/MONDO_0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures 'prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf 'arthrogryposis multiplex congenita' 'prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf 'hereditary motor neuron disease' 'prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf 'arthrogryposis multiplex congenita' 'prenatal-onset spinal muscular atrophy with congenital bone fractures' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0700088 paroxysmal nonkinesigenic dyskinesia 'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'paroxysmal dyskinesia' 'paroxysmal nonkinesigenic dyskinesia' SubClassOf 'paroxysmal dyskinesia' http://purl.obolibrary.org/obo/MONDO_0000211 striatal degeneration, autosomal dominant 'striatal degeneration, autosomal dominant' SubClassOf 'striatonigral degeneration' 'striatal degeneration, autosomal dominant' SubClassOf 'striatonigral degeneration' http://purl.obolibrary.org/obo/MONDO_0700085 pentasomy 'pentasomy' SubClassOf 'aneuploidy' 'pentasomy' SubClassOf 'aneuploidy' http://purl.obolibrary.org/obo/MONDO_0700084 myopathy caused by variation in GMPPB 'myopathy caused by variation in GMPPB' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in GMPPB' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0700080 EPHB4-associated vascular malformation spectrum 'EPHB4-associated vascular malformation spectrum' SubClassOf 'vascular malformation' 'EPHB4-associated vascular malformation spectrum' SubClassOf 'vascular malformation' http://purl.obolibrary.org/obo/MONDO_0014858 intellectual disability, autosomal dominant 43 'intellectual disability, autosomal dominant 43' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 43' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile, 2 'hypercalcemia, infantile, 2' SubClassOf 'hypercalcemia, infantile' 'hypercalcemia, infantile, 2' SubClassOf 'hypercalcemia, infantile' http://purl.obolibrary.org/obo/MONDO_0014850 retinitis pigmentosa and erythrocytic microcytosis 'retinitis pigmentosa and erythrocytic microcytosis' SubClassOf 'genetic disorder' 'retinitis pigmentosa and erythrocytic microcytosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014855 intellectual disability, autosomal dominant 42 'intellectual disability, autosomal dominant 42' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 42' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0014853 autosomal dominant nonsyndromic hearing loss 70 'autosomal dominant nonsyndromic hearing loss 70' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 70' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0700075 congenital muscular dystrophy caused by variation in POMGNT2 'congenital muscular dystrophy caused by variation in POMGNT2' SubClassOf 'myopathy caused by variation in POMGNT2' 'congenital muscular dystrophy caused by variation in POMGNT2' SubClassOf 'myopathy caused by variation in POMGNT2' http://purl.obolibrary.org/obo/MONDO_0700071 myopathy caused by variation in POMT2 'myopathy caused by variation in POMT2' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in POMT2' SubClassOf 'myopathy' 'myopathy caused by variation in POMT2' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in POMT2' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0700070 myopathy caused by variation in POMT1 'myopathy caused by variation in POMT1' SubClassOf 'myopathy' 'myopathy caused by variation in POMT1' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in POMT1' SubClassOf 'myopathy' 'myopathy caused by variation in POMT1' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0014863 macrocephaly, dysmorphic facies, and psychomotor retardation 'macrocephaly, dysmorphic facies, and psychomotor retardation' SubClassOf 'genetic disorder' 'macrocephaly, dysmorphic facies, and psychomotor retardation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014867 spinocerebellar ataxia 43 'spinocerebellar ataxia 43' SubClassOf 'autosomal dominant cerebellar ataxia' 'spinocerebellar ataxia 43' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014866 Charcot-Marie-Tooth disease axonal type 2T 'Charcot-Marie-Tooth disease axonal type 2T' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2T' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014864 hypermanganesemia with dystonia 2 'hypermanganesemia with dystonia 2' SubClassOf 'hypermanganesemia with dystonia' 'hypermanganesemia with dystonia 2' SubClassOf 'disorder of manganese transport' 'hypermanganesemia with dystonia 2' SubClassOf 'hypermanganesemia with dystonia' 'hypermanganesemia with dystonia 2' SubClassOf 'disorder of manganese transport' http://purl.obolibrary.org/obo/MONDO_0700065 trisomy 'trisomy' SubClassOf 'aneuploidy' 'trisomy' SubClassOf 'aneuploidy' http://purl.obolibrary.org/obo/MONDO_0700067 myopathy caused by variation in FKTN 'myopathy caused by variation in FKTN' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in FKTN' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0700060 leukemia, acute, X-linked 'leukemia, acute, X-linked' SubClassOf 'Acute Leukemia' 'leukemia, acute, X-linked' SubClassOf 'Acute Leukemia' http://purl.obolibrary.org/obo/MONDO_0014873 nevus comedonicus syndrome 'nevus comedonicus syndrome' SubClassOf 'melanocytic nevus' 'nevus comedonicus syndrome' SubClassOf 'hereditary skin disorder' 'nevus comedonicus syndrome' SubClassOf 'melanocytic nevus' 'nevus comedonicus syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0014872 congenital stationary night blindness 1H 'congenital stationary night blindness 1H' SubClassOf 'congenital stationary night blindness' 'congenital stationary night blindness 1H' SubClassOf 'congenital stationary night blindness' http://purl.obolibrary.org/obo/MONDO_0700057 neurological pain disorder 'neurological pain disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Pain') 'neurological pain disorder' SubClassOf 'realized in' some 'sensory perception of pain' 'neurological pain disorder' SubClassOf 'disease has major feature' some 'Pain' 'neurological pain disorder' SubClassOf 'nervous system disease' 'neurological pain disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Pain' 'neurological pain disorder' SubClassOf 'realized in' some 'sensory perception of pain' 'neurological pain disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Pain') 'neurological pain disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0014870 NEK9-related lethal skeletal dysplasia 'NEK9-related lethal skeletal dysplasia' SubClassOf 'short rib dysplasia' 'NEK9-related lethal skeletal dysplasia' SubClassOf 'lethal congenital contracture syndrome' 'NEK9-related lethal skeletal dysplasia' SubClassOf 'thoracic malformation' 'NEK9-related lethal skeletal dysplasia' SubClassOf 'short rib dysplasia' 'NEK9-related lethal skeletal dysplasia' SubClassOf 'lethal congenital contracture syndrome' 'NEK9-related lethal skeletal dysplasia' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0700053 viral infectious disease, non-human animal 'viral infectious disease, non-human animal' SubClassOf 'infectious disease, non-human animal' 'viral infectious disease, non-human animal' SubClassOf 'infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0700055 KIF1A related neurological disorder 'KIF1A related neurological disorder' SubClassOf 'nervous system disease' 'KIF1A related neurological disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0700051 liver abscess (disease) 'liver abscess (disease)' SubClassOf 'abscess' 'liver abscess (disease)' SubClassOf 'abscess' http://www.ebi.ac.uk/efo/EFO_0007401 oligohydramnios 'oligohydramnios' SubClassOf 'placenta disease' 'oligohydramnios' SubClassOf 'placenta disease' http://www.ebi.ac.uk/efo/EFO_0007405 optic neuritis 'optic neuritis' SubClassOf 'eye disease' 'optic neuritis' SubClassOf 'optic nerve disorder' 'optic neuritis' SubClassOf 'eye disease' 'optic neuritis' SubClassOf 'optic nerve disorder' http://www.ebi.ac.uk/efo/EFO_0007404 opisthorchiasis 'opisthorchiasis' SubClassOf 'Helminthiasis' 'opisthorchiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007403 ophthalmic herpes zoster 'ophthalmic herpes zoster' SubClassOf 'Herpes Zoster' 'ophthalmic herpes zoster' SubClassOf 'infectious disorder of the nervous system' 'ophthalmic herpes zoster' SubClassOf 'Herpes Zoster' 'ophthalmic herpes zoster' SubClassOf 'infectious disorder of the nervous system' http://www.ebi.ac.uk/efo/EFO_0007402 onchocerciasis 'onchocerciasis' SubClassOf 'vector-borne disease' 'onchocerciasis' SubClassOf 'filariasis' 'onchocerciasis' SubClassOf 'vector-borne disease' 'onchocerciasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007409 Ornithine transcarbamylase deficiency ornithine carbamoyltransferase deficiency 'Ornithine transcarbamylase deficiency' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'Ornithine transcarbamylase deficiency' SubClassOf 'urea cycle disorder or inherited hyperammonemia' http://www.ebi.ac.uk/efo/EFO_0007407 oral tuberculosis 'oral tuberculosis' SubClassOf 'gastrointestinal tuberculosis' 'oral tuberculosis' SubClassOf 'gastrointestinal tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007406 oral candidiasis 'oral candidiasis' SubClassOf 'candidiasis' 'oral candidiasis' SubClassOf 'mouth disease' 'oral candidiasis' SubClassOf 'candidiasis' 'oral candidiasis' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0014885 Hermansky-Pudlak syndrome 10 'Hermansky-Pudlak syndrome 10' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome 10' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0014883 hypertrophic cardiomyopathy 26 'hypertrophic cardiomyopathy 26' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 26' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0014882 hereditary spastic paraplegia 77 'hereditary spastic paraplegia 77' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 77' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014889 striatonigral degeneration, childhood-onset 'striatonigral degeneration, childhood-onset' SubClassOf 'striatonigral degeneration' 'striatonigral degeneration, childhood-onset' SubClassOf 'inherited dystonia' 'striatonigral degeneration, childhood-onset' SubClassOf 'striatonigral degeneration' 'striatonigral degeneration, childhood-onset' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0014888 MIRAGE syndrome 'MIRAGE syndrome' SubClassOf 'syndromic disease' 'MIRAGE syndrome' SubClassOf 'genetic disorder' 'MIRAGE syndrome' SubClassOf 'syndromic disease' 'MIRAGE syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 'severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf 'hyperpigmentation of the skin' 'severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf 'hyperpigmentation of the skin' 'severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014881 transketolase deficiency 'transketolase deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'transketolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'transketolase deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'transketolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0700043 syndrome caused by partial chromosomal duplication of the short arm of chromosome 9 'syndrome caused by partial chromosomal duplication of the short arm of chromosome 9' SubClassOf 'partial trisomy/tetrasomy of chromosome 9' 'syndrome caused by partial chromosomal duplication of the short arm of chromosome 9' SubClassOf 'partial trisomy/tetrasomy of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0014880 Duane retraction syndrome 3 with or without deafness 'Duane retraction syndrome 3 with or without deafness' SubClassOf 'Duane retraction syndrome' 'Duane retraction syndrome 3 with or without deafness' SubClassOf 'Duane retraction syndrome' http://purl.obolibrary.org/obo/MONDO_0700044 TUBB2A-related tubulinopathy 'TUBB2A-related tubulinopathy' SubClassOf 'tubulinopathy' 'TUBB2A-related tubulinopathy' SubClassOf 'complex neurodevelopmental disorder with motor features' 'TUBB2A-related tubulinopathy' SubClassOf 'tubulinopathy' 'TUBB2A-related tubulinopathy' SubClassOf 'complex neurodevelopmental disorder with motor features' http://purl.obolibrary.org/obo/MONDO_0000254 cutaneous mycosis 'cutaneous mycosis' SubClassOf 'fungal infectious disease' 'cutaneous mycosis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0000253 piedra 'piedra' SubClassOf 'disorder of pilosebaceous unit' 'piedra' SubClassOf 'superficial mycosis' 'piedra' SubClassOf 'disorder of pilosebaceous unit' 'piedra' SubClassOf 'superficial mycosis' http://purl.obolibrary.org/obo/MONDO_0700041 neuroblastoma, susceptibility to, 2 'neuroblastoma, susceptibility to, 2' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0000257 acute diarrhea 'acute diarrhea' SubClassOf 'diarrheal disease' 'acute diarrhea' SubClassOf 'diarrheal disease' http://purl.obolibrary.org/obo/MONDO_0000256 systemic mycosis 'systemic mycosis' SubClassOf 'fungal infectious disease' 'systemic mycosis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome 'congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome' SubClassOf 'congenital muscular dystrophy' 'congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014899 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' http://purl.obolibrary.org/obo/MONDO_0014898 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3' SubClassOf 'autosomal recessive progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3' SubClassOf 'autosomal recessive progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' http://purl.obolibrary.org/obo/MONDO_0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014891 hyperuricemic nephropathy, familial juvenile type 4 'hyperuricemic nephropathy, familial juvenile type 4' SubClassOf 'familial juvenile hyperuricemic nephropathy' 'hyperuricemic nephropathy, familial juvenile type 4' SubClassOf 'familial juvenile hyperuricemic nephropathy' http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder 'inherited neurodegenerative disorder' SubClassOf 'neurodegenerative disease' 'inherited neurodegenerative disorder' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0007423 parotitis 'parotitis' SubClassOf 'parotid disease' 'parotitis' SubClassOf 'inflammatory disease' 'parotitis' SubClassOf 'parotid disease' 'parotitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_0007422 parotid disease 'parotid disease' SubClassOf 'salivary gland disease' 'parotid disease' SubClassOf 'salivary gland disease' http://www.ebi.ac.uk/efo/EFO_0007421 paronychia 'paronychia' SubClassOf 'skin disease' 'paronychia' SubClassOf 'nail disorder' 'paronychia' SubClassOf 'skin disease' 'paronychia' SubClassOf 'nail disorder' http://purl.obolibrary.org/obo/MONDO_0024239 congenital anomaly of cardiovascular system 'congenital anomaly of cardiovascular system' SubClassOf 'cardiovascular disease' 'congenital anomaly of cardiovascular system' SubClassOf 'cardiovascular disease' http://www.ebi.ac.uk/efo/EFO_0007420 paratyphoid fever 'paratyphoid fever' SubClassOf 'salmonellosis' 'paratyphoid fever' SubClassOf 'salmonellosis' http://www.ebi.ac.uk/efo/EFO_0007427 pericarditis 'pericarditis' SubClassOf 'pericardium disorder' 'pericarditis' SubClassOf 'pericardium disorder' http://www.ebi.ac.uk/efo/EFO_0007426 pericardial tuberculosis 'pericardial tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'pericardial tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007424 pasteurellosis 'pasteurellosis' SubClassOf 'bacterial disease' 'pasteurellosis' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0000262 otomycosis 'otomycosis' SubClassOf 'otitis externa' 'otomycosis' SubClassOf 'otitis externa' http://www.ebi.ac.uk/efo/EFO_0007429 peritonsillar abscess 'peritonsillar abscess' SubClassOf 'bacterial disease' 'peritonsillar abscess' SubClassOf 'abscess' 'peritonsillar abscess' SubClassOf 'bacterial disease' 'peritonsillar abscess' SubClassOf 'abscess' http://www.ebi.ac.uk/efo/EFO_0007428 periodic limb movement disorder 'periodic limb movement disorder' SubClassOf 'sleep-wake disorder' 'periodic limb movement disorder' SubClassOf 'sleep-wake disorder' http://www.ebi.ac.uk/efo/EFO_0007410 ornithosis 'ornithosis' SubClassOf 'primary bacterial infectious disease' 'ornithosis' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007416 pancreatic endocrine carcinoma 'pancreatic endocrine carcinoma' SubClassOf 'Malignant Pancreatic Neoplasm' 'pancreatic endocrine carcinoma' SubClassOf 'Digestive System Carcinoma' 'pancreatic endocrine carcinoma' SubClassOf 'islet cell tumor' 'pancreatic endocrine carcinoma' SubClassOf 'Malignant Pancreatic Neoplasm' 'pancreatic endocrine carcinoma' SubClassOf 'Digestive System Carcinoma' 'pancreatic endocrine carcinoma' SubClassOf 'islet cell tumor' http://www.ebi.ac.uk/efo/EFO_0007414 ostertagiasis 'ostertagiasis' SubClassOf 'trichostrongyloidiasis' 'ostertagiasis' SubClassOf 'trichostrongyloidiasis' http://www.ebi.ac.uk/efo/EFO_0007413 osteitis fibrosa 'osteitis fibrosa' SubClassOf 'bone resorption disease' 'osteitis fibrosa' SubClassOf 'bone resorption disease' http://purl.obolibrary.org/obo/MONDO_0000271 tuberculous salpingitis 'tuberculous salpingitis' SubClassOf 'urogenital tuberculosis' 'tuberculous salpingitis' SubClassOf 'salpingitis' 'tuberculous salpingitis' SubClassOf 'urogenital tuberculosis' 'tuberculous salpingitis' SubClassOf 'salpingitis' http://www.ebi.ac.uk/efo/EFO_0007418 paragonimiasis 'paragonimiasis' SubClassOf 'Helminthiasis' 'paragonimiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007417 paracoccidioidomycosis 'paracoccidioidomycosis' SubClassOf 'primary systemic mycosis' 'paracoccidioidomycosis' SubClassOf 'primary systemic mycosis' http://www.ebi.ac.uk/efo/EFO_0007320 hypodermyiasis 'hypodermyiasis' SubClassOf 'myiasis' 'hypodermyiasis' SubClassOf 'myiasis' http://purl.obolibrary.org/obo/MONDO_0000045 hypothyroidism, congenital, nongoitrous 'hypothyroidism, congenital, nongoitrous' SubClassOf 'congenital hypothyroidism' 'hypothyroidism, congenital, nongoitrous' SubClassOf 'congenital hypothyroidism' http://www.ebi.ac.uk/efo/EFO_0007324 inclusion conjunctivitis 'inclusion conjunctivitis' SubClassOf 'bacterial conjunctivitis' 'inclusion conjunctivitis' SubClassOf 'bacterial conjunctivitis' http://www.ebi.ac.uk/efo/EFO_0007323 inclusion body myositis 'inclusion body myositis' SubClassOf 'myositis' 'inclusion body myositis' SubClassOf 'myositis' http://www.ebi.ac.uk/efo/EFO_0007322 idiopathic CD4-positive T-lymphocytopenia 'idiopathic CD4-positive T-lymphocytopenia' SubClassOf 'lymphopenia' 'idiopathic CD4-positive T-lymphocytopenia' SubClassOf 'T-cell immunodeficiency' 'idiopathic CD4-positive T-lymphocytopenia' SubClassOf 'T-cell immunodeficiency' 'idiopathic CD4-positive T-lymphocytopenia' SubClassOf 'lymphopenia' http://www.ebi.ac.uk/efo/EFO_0007321 hypopharynx cancer 'hypopharynx cancer' SubClassOf 'pharynx cancer' 'hypopharynx cancer' SubClassOf 'pharynx cancer' http://www.ebi.ac.uk/efo/EFO_0007327 infectious myxomatosis 'infectious myxomatosis' SubClassOf 'in taxon' some 'Oryctolagus cuniculus' 'infectious myxomatosis' SubClassOf 'viral infectious disease, non-human animal' 'infectious myxomatosis' SubClassOf 'in taxon' some 'Oryctolagus cuniculus' 'infectious myxomatosis' SubClassOf 'viral infectious disease, non-human animal' http://www.ebi.ac.uk/efo/EFO_0007326 infectious mononucleosis 'infectious mononucleosis' SubClassOf 'Epstein-Barr virus infection' 'infectious mononucleosis' SubClassOf 'Epstein-Barr virus infection' http://www.ebi.ac.uk/efo/EFO_0007325 infectious ectromelia 'infectious ectromelia' SubClassOf 'in taxon' some 'Mus musculus' 'infectious ectromelia' SubClassOf 'viral infectious disease, non-human animal' 'infectious ectromelia' SubClassOf 'in taxon' some 'Mus musculus' 'infectious ectromelia' SubClassOf 'viral infectious disease, non-human animal' http://www.ebi.ac.uk/efo/EFO_0007329 interdigitating dendritic cell sarcoma 'interdigitating dendritic cell sarcoma' SubClassOf 'dendritic cell sarcoma' 'interdigitating dendritic cell sarcoma' SubClassOf 'dendritic cell sarcoma' http://purl.obolibrary.org/obo/MONDO_0014687 retinitis pigmentosa 73 'retinitis pigmentosa 73' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 73' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'congenital myopathy' 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Klippel-Feil syndrome' 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'congenital myopathy' 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0014688 short-rib thoracic dysplasia 14 with polydactyly 'short-rib thoracic dysplasia 14 with polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 14 with polydactyly' SubClassOf 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' 'short-rib thoracic dysplasia 14 with polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 14 with polydactyly' SubClassOf 'Joubert syndrome with Jeune asphyxiating thoracic dystrophy' http://purl.obolibrary.org/obo/MONDO_0700005 idiopathic 'idiopathic' SubClassOf 'idiopathic vs non-idiopathic' 'idiopathic' SubClassOf 'idiopathic vs non-idiopathic' http://purl.obolibrary.org/obo/MONDO_0700004 idiopathic vs non-idiopathic 'idiopathic vs non-idiopathic' SubClassOf 'disease characteristic' 'idiopathic vs non-idiopathic' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0014683 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0014682 thyroid cancer, nonmedullary, 5 'thyroid cancer, nonmedullary, 5' SubClassOf 'familial papillary or follicular thyroid carcinoma' 'thyroid cancer, nonmedullary, 5' SubClassOf 'familial papillary or follicular thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0014681 thyroid cancer, nonmedullary, 4 'thyroid cancer, nonmedullary, 4' SubClassOf 'familial papillary or follicular thyroid carcinoma' 'thyroid cancer, nonmedullary, 4' SubClassOf 'familial papillary or follicular thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0700000 ALG9-associated autosomal dominant polycystic kidney disease 'ALG9-associated autosomal dominant polycystic kidney disease' SubClassOf 'Autosomal dominant polycystic kidney disease' 'ALG9-associated autosomal dominant polycystic kidney disease' SubClassOf 'Autosomal dominant polycystic kidney disease' http://www.ebi.ac.uk/efo/EFO_0007313 HIV-associated nephropathy 'HIV-associated nephropathy' SubClassOf 'inherited focal segmental glomerulosclerosis' 'HIV-associated nephropathy' SubClassOf 'inherited focal segmental glomerulosclerosis' http://www.ebi.ac.uk/efo/EFO_0007312 HIV wasting syndrome 'HIV wasting syndrome' SubClassOf 'HIV infection' 'HIV wasting syndrome' SubClassOf 'HIV infection' http://www.ebi.ac.uk/efo/EFO_0007310 histoplasmosis 'histoplasmosis' SubClassOf 'primary systemic mycosis' 'histoplasmosis' SubClassOf 'primary systemic mycosis' http://www.ebi.ac.uk/efo/EFO_0007317 hymenolepiasis 'hymenolepiasis' SubClassOf 'Helminthiasis' 'hymenolepiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007316 Human T-lymphotropic virus 1 infectious disease 'Human T-lymphotropic virus 1 infectious disease' SubClassOf 'viral disease' 'Human T-lymphotropic virus 1 infectious disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007314 hookworm infectious disease 'hookworm infectious disease' SubClassOf 'infectious disease' 'hookworm infectious disease' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0007319 hyperprolactinemia 'hyperprolactinemia' SubClassOf 'disease has major feature' some 'Increased circulating prolactin concentration' 'hyperprolactinemia' SubClassOf 'hyperpituitarism' 'hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Increased circulating prolactin concentration' 'hyperprolactinemia' SubClassOf 'hyperpituitarism' http://www.ebi.ac.uk/efo/EFO_0007318 hyperinsulinemic hypoglycemia 'hyperinsulinemic hypoglycemia' SubClassOf 'inborn carbohydrate metabolic disorder' 'hyperinsulinemic hypoglycemia' SubClassOf 'endocrine system disease' 'hyperinsulinemic hypoglycemia' SubClassOf 'inborn carbohydrate metabolic disorder' 'hyperinsulinemic hypoglycemia' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0014699 intellectual disability, autosomal dominant 40 'intellectual disability, autosomal dominant 40' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 40' SubClassOf 'intellectual disability, autosomal dominant' http://www.ebi.ac.uk/efo/EFO_0007342 legionellosis 'legionellosis' SubClassOf 'primary bacterial infectious disease' 'legionellosis' SubClassOf 'primary bacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0000066 mitochondrial complex deficiency 'mitochondrial complex deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'mitochondrial complex deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' http://www.ebi.ac.uk/efo/EFO_0007340 latent syphilis 'latent syphilis' SubClassOf 'syphilis' 'latent syphilis' SubClassOf 'syphilis' http://purl.obolibrary.org/obo/MONDO_0000065 microvascular complications of diabetes, susceptibility 'microvascular complications of diabetes, susceptibility' SubClassOf 'predisposes towards' some 'diabetic retinopathy' 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'diabetic retinopathy') 'microvascular complications of diabetes, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'diabetic retinopathy' 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'diabetic retinopathy') http://www.ebi.ac.uk/efo/EFO_0007346 lipoatrophic diabetes 'lipoatrophic diabetes' SubClassOf 'type 2 diabetes mellitus' 'lipoatrophic diabetes' SubClassOf 'type 2 diabetes mellitus' http://www.ebi.ac.uk/efo/EFO_0007345 lipid pneumonia 'lipid pneumonia' SubClassOf 'Pneumonia, Aspiration' 'lipid pneumonia' SubClassOf 'Pneumonia, Aspiration' http://www.ebi.ac.uk/efo/EFO_0007344 leptospirosis 'leptospirosis' SubClassOf 'primary bacterial infectious disease' 'leptospirosis' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007343 Legionnaires' disease 'Legionnaires' disease' SubClassOf 'legionellosis' 'Legionnaires' disease' SubClassOf 'bacterial pneumonia' 'Legionnaires' disease' SubClassOf 'legionellosis' 'Legionnaires' disease' SubClassOf 'bacterial pneumonia' http://purl.obolibrary.org/obo/MONDO_0000060 microcephalic osteodysplastic primordial dwarfism 'microcephalic osteodysplastic primordial dwarfism' SubClassOf 'microcephaly' 'microcephalic osteodysplastic primordial dwarfism' SubClassOf 'microcephaly' http://www.ebi.ac.uk/efo/EFO_0007349 lumpy skin disease 'lumpy skin disease' SubClassOf 'viral disease' 'lumpy skin disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007348 louping ill 'louping ill' SubClassOf 'viral infectious disease, non-human animal' 'louping ill' SubClassOf 'viral infectious disease, non-human animal' http://www.ebi.ac.uk/efo/EFO_0007347 listeriosis 'listeriosis' SubClassOf 'primary bacterial infectious disease' 'listeriosis' SubClassOf 'primary bacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0000062 isolated microphthalmia 'isolated microphthalmia' SubClassOf 'microphthalmia' 'isolated microphthalmia' SubClassOf 'microphthalmia' http://purl.obolibrary.org/obo/MONDO_0000079 nephrolithiasis/osteoporosis, hypophosphatemic 'nephrolithiasis/osteoporosis, hypophosphatemic' SubClassOf 'osteoporosis' 'nephrolithiasis/osteoporosis, hypophosphatemic' SubClassOf 'osteoporosis' http://www.ebi.ac.uk/efo/EFO_0007331 islet cell tumor 'islet cell tumor' SubClassOf 'pancreatic neoplasm' 'islet cell tumor' SubClassOf 'digestive system neuroendocrine neoplasm' 'islet cell tumor' SubClassOf 'endocrine pancreas disorder' 'islet cell tumor' SubClassOf 'pancreatic neoplasm' 'islet cell tumor' SubClassOf 'digestive system neuroendocrine neoplasm' 'islet cell tumor' SubClassOf 'endocrine pancreas disorder' http://purl.obolibrary.org/obo/MONDO_0000078 acrocephalopolysyndactyly 'acrocephalopolysyndactyly' SubClassOf 'acrocephalosyndactyly' 'acrocephalopolysyndactyly' SubClassOf 'acrocephalosyndactyly' http://www.ebi.ac.uk/efo/EFO_0007330 intestinal cancer 'intestinal cancer' SubClassOf 'intestinal neoplasm' 'intestinal cancer' SubClassOf 'digestive system cancer' 'intestinal cancer' SubClassOf 'intestinal neoplasm' 'intestinal cancer' SubClassOf 'digestive system cancer' http://www.ebi.ac.uk/efo/EFO_0007335 Kluver-Bucy syndrome 'Kluver-Bucy syndrome' SubClassOf 'impulse control disorder' 'Kluver-Bucy syndrome' SubClassOf 'infectious encephalitis' 'Kluver-Bucy syndrome' SubClassOf 'syndromic disease' 'Kluver-Bucy syndrome' SubClassOf 'impulse control disorder' 'Kluver-Bucy syndrome' SubClassOf 'infectious encephalitis' 'Kluver-Bucy syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007339 late congenital syphilis 'late congenital syphilis' SubClassOf 'congenital syphilis' 'late congenital syphilis' SubClassOf 'congenital syphilis' http://purl.obolibrary.org/obo/MONDO_0000070 Mycobacterium tuberculosis, susceptibility 'Mycobacterium tuberculosis, susceptibility' SubClassOf 'predisposes towards' some 'tuberculosis' 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'tuberculosis') 'Mycobacterium tuberculosis, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'tuberculosis' 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'tuberculosis') http://www.ebi.ac.uk/efo/EFO_0007338 Lassa fever 'Lassa fever' EquivalentTo 'viral hemorrhagic fever' and ('disease has primary infectious agent' some 'Lassa virus') http://www.ebi.ac.uk/efo/EFO_0007337 laryngeal tuberculosis 'laryngeal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'laryngeal tuberculosis' SubClassOf 'laryngitis' 'laryngeal tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'laryngeal tuberculosis' SubClassOf 'laryngitis' http://www.ebi.ac.uk/efo/EFO_0007336 Langerhans cell sarcoma 'Langerhans cell sarcoma' SubClassOf 'dendritic cell sarcoma' 'Langerhans cell sarcoma' SubClassOf 'disease has location' some 'Langerhans cell' 'Langerhans cell sarcoma' SubClassOf 'dendritic cell sarcoma' 'Langerhans cell sarcoma' SubClassOf 'disease has location' some 'Langerhans cell' http://www.ebi.ac.uk/efo/EFO_0007364 meningoencephalitis 'meningoencephalitis' SubClassOf 'encephalitis' 'meningoencephalitis' SubClassOf 'encephalitis' http://purl.obolibrary.org/obo/MONDO_0000088 precocious puberty 'precocious puberty' SubClassOf 'gonadal disorder' 'precocious puberty' SubClassOf 'gonadal disorder' http://www.ebi.ac.uk/efo/EFO_0007362 mediastinal cancer 'mediastinal cancer' SubClassOf 'thoracic cancer' 'mediastinal cancer' SubClassOf 'neoplasm of mediastinum' 'mediastinal cancer' SubClassOf 'thoracic cancer' 'mediastinal cancer' SubClassOf 'neoplasm of mediastinum' http://purl.obolibrary.org/obo/MONDO_0000087 polymicrogyria 'polymicrogyria' SubClassOf 'congenital nervous system disorder' 'polymicrogyria' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007361 maxillary sinusitis 'maxillary sinusitis' SubClassOf 'sinusitis' 'maxillary sinusitis' SubClassOf 'sinusitis' http://www.ebi.ac.uk/efo/EFO_0007368 miliary tuberculosis 'miliary tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'miliary tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007367 middle lobe syndrome 'middle lobe syndrome' SubClassOf 'lung disease' 'middle lobe syndrome' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_0007366 microsporidiosis 'microsporidiosis' SubClassOf 'opportunistic mycosis' 'microsporidiosis' SubClassOf 'parasitic infection' 'microsporidiosis' SubClassOf 'opportunistic mycosis' 'microsporidiosis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0007365 mesoblastic nephroma 'mesoblastic nephroma' SubClassOf 'kidney cancer' 'mesoblastic nephroma' SubClassOf 'kidney cancer' http://www.ebi.ac.uk/efo/EFO_0007371 Miller Fisher syndrome 'Miller Fisher syndrome' SubClassOf 'syndromic disease' 'Miller Fisher syndrome' SubClassOf 'cerebellar disorder' 'Miller Fisher syndrome' SubClassOf 'syndromic disease' 'Miller Fisher syndrome' SubClassOf 'cerebellar disorder' http://www.ebi.ac.uk/efo/EFO_0007370 milker's nodule 'milker's nodule' SubClassOf 'viral disease' 'milker's nodule' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007353 lymphogranuloma venereum 'lymphogranuloma venereum' SubClassOf 'granuloma inguinale' 'lymphogranuloma venereum' SubClassOf 'Chlamydia trachomatis infectious disease' 'lymphogranuloma venereum' SubClassOf 'granuloma inguinale' 'lymphogranuloma venereum' SubClassOf 'Chlamydia trachomatis infectious disease' http://www.ebi.ac.uk/efo/EFO_0007351 lymphangitis 'lymphangitis' SubClassOf 'lymphatic system disease' 'lymphangitis' SubClassOf 'lymphatic system disease' http://www.ebi.ac.uk/efo/EFO_0007350 lymph node tuberculosis 'lymph node tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'lymph node tuberculosis' SubClassOf 'lymph node disorder' 'lymph node tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'lymph node tuberculosis' SubClassOf 'lymph node disorder' http://www.ebi.ac.uk/efo/EFO_0007357 mansonelliasis 'mansonelliasis' SubClassOf 'filariasis' 'mansonelliasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007356 mandibular cancer 'mandibular cancer' SubClassOf 'jaw cancer' 'mandibular cancer' SubClassOf 'jaw cancer' http://www.ebi.ac.uk/efo/EFO_0007355 male reproductive organ cancer 'male reproductive organ cancer' SubClassOf 'male reproductive system neoplasm' 'male reproductive organ cancer' SubClassOf 'reproductive system cancer' 'male reproductive organ cancer' SubClassOf 'male reproductive system neoplasm' 'male reproductive organ cancer' SubClassOf 'reproductive system cancer' http://www.ebi.ac.uk/efo/EFO_0007359 mast-cell leukemia 'mast-cell leukemia' SubClassOf 'leukemia' 'mast-cell leukemia' SubClassOf 'systemic mastocytosis' 'mast-cell leukemia' SubClassOf 'leukemia' 'mast-cell leukemia' SubClassOf 'systemic mastocytosis' http://purl.obolibrary.org/obo/MONDO_0000090 progressive external ophthalmoplegia with mitochondrial DNA deletions 'progressive external ophthalmoplegia with mitochondrial DNA deletions' SubClassOf 'progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions' SubClassOf 'progressive external ophthalmoplegia' http://www.ebi.ac.uk/efo/EFO_0007358 Marburg hemorrhagic fever 'Marburg hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' 'Marburg hemorrhagic fever' SubClassOf 'viral hemorrhagic fever' http://www.ebi.ac.uk/efo/EFO_0007386 Mycobacterium avium complex disease 'Mycobacterium avium complex disease' SubClassOf 'primary bacterial infectious disease' 'Mycobacterium avium complex disease' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007385 mushroom workers' lung 'mushroom workers' lung' SubClassOf 'hypersensitivity pneumonitis' 'mushroom workers' lung' SubClassOf 'hypersensitivity pneumonitis' http://www.ebi.ac.uk/efo/EFO_0007384 muscle cancer 'muscle cancer' SubClassOf 'musculoskeletal system cancer' 'muscle cancer' SubClassOf 'musculoskeletal system cancer' http://www.ebi.ac.uk/efo/EFO_0007389 myiasis 'myiasis' SubClassOf 'parasitic ectoparasitic infectious disease' 'myiasis' SubClassOf 'parasitic ectoparasitic infectious disease' http://www.ebi.ac.uk/efo/EFO_0007388 myelophthisic anemia 'myelophthisic anemia' SubClassOf 'idiopathic aplastic anemia' 'myelophthisic anemia' SubClassOf 'idiopathic aplastic anemia' http://www.ebi.ac.uk/efo/EFO_0007387 Mycoplasma pneumoniae pneumonia 'Mycoplasma pneumoniae pneumonia' SubClassOf 'bacterial pneumonia' 'Mycoplasma pneumoniae pneumonia' SubClassOf 'bacterial pneumonia' http://www.ebi.ac.uk/efo/EFO_0007393 neuroaspergillosis 'neuroaspergillosis' SubClassOf 'aspergillosis' 'neuroaspergillosis' SubClassOf 'aspergillosis' http://www.ebi.ac.uk/efo/EFO_0007392 nervous system cancer 'nervous system cancer' SubClassOf 'cancer' 'nervous system cancer' SubClassOf 'nervous system neoplasm' 'nervous system cancer' SubClassOf 'cancer' 'nervous system cancer' SubClassOf 'nervous system neoplasm' http://www.ebi.ac.uk/efo/EFO_0007391 Nematoda infectious disease 'Nematoda infectious disease' SubClassOf 'Helminthiasis' 'Nematoda infectious disease' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007390 necatoriasis 'necatoriasis' SubClassOf 'Helminthiasis' 'necatoriasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007375 molluscum contagiosum 'molluscum contagiosum' SubClassOf 'viral disease' 'molluscum contagiosum' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007374 mixed connective tissue disease 'mixed connective tissue disease' SubClassOf 'overlapping connective tissue disease' 'mixed connective tissue disease' SubClassOf 'rheumatic disease' 'mixed connective tissue disease' SubClassOf 'overlapping connective tissue disease' 'mixed connective tissue disease' SubClassOf 'rheumatic disease' http://www.ebi.ac.uk/efo/EFO_0007372 mitral valve stenosis 'mitral valve stenosis' SubClassOf 'mitral valve disease' 'mitral valve stenosis' SubClassOf 'mitral valve disease' http://www.ebi.ac.uk/efo/EFO_0007379 mucocutaneous Leishmaniasis 'mucocutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' 'mucocutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0007378 mucinous cystadenocarcinoma 'mucinous cystadenocarcinoma' SubClassOf 'mucinous carcinoma' 'mucinous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'mucinous cystadenocarcinoma' SubClassOf 'mucinous carcinoma' 'mucinous cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0007381 multidrug-resistant tuberculosis 'multidrug-resistant tuberculosis' SubClassOf 'drug-resistant tuberculosis' 'multidrug-resistant tuberculosis' SubClassOf 'drug-resistant tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007397 nocardiosis 'nocardiosis' SubClassOf 'opportunistic bacterial infectious disease' 'nocardiosis' SubClassOf 'opportunistic bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007395 Newcastle disease 'Newcastle disease' SubClassOf 'viral disease' 'Newcastle disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007394 neuroschistosomiasis 'neuroschistosomiasis' SubClassOf 'schistosomiasis' 'neuroschistosomiasis' SubClassOf 'schistosomiasis' http://www.ebi.ac.uk/efo/EFO_0007398 ocular onchocerciasis 'ocular onchocerciasis' SubClassOf 'onchocerciasis' 'ocular onchocerciasis' SubClassOf 'onchocerciasis' http://purl.obolibrary.org/obo/MONDO_0014706 cutis laxa, autosomal dominant 3 'cutis laxa, autosomal dominant 3' SubClassOf 'P5CS deficiency' 'cutis laxa, autosomal dominant 3' SubClassOf 'autosomal dominant cutis laxa' 'cutis laxa, autosomal dominant 3' SubClassOf 'P5CS deficiency' 'cutis laxa, autosomal dominant 3' SubClassOf 'autosomal dominant cutis laxa' http://purl.obolibrary.org/obo/MONDO_0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 'skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome' SubClassOf 'skeletal dysplasia' 'skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014702 autosomal recessive complex spastic paraplegia type 9B 'autosomal recessive complex spastic paraplegia type 9B' SubClassOf 'P5CS deficiency' 'autosomal recessive complex spastic paraplegia type 9B' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal recessive complex spastic paraplegia type 9B' SubClassOf 'P5CS deficiency' 'autosomal recessive complex spastic paraplegia type 9B' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014701 spondyloepiphyseal dysplasia, Stanescu type 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'type 2 collagenopathy' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'type 2 collagenopathy' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014700 Au-Kline syndrome 'Au-Kline syndrome' SubClassOf 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' 'Au-Kline syndrome' SubClassOf 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0014717 early-onset Lafora body disease 'early-onset Lafora body disease' SubClassOf 'progressive myoclonus epilepsy' 'early-onset Lafora body disease' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 'primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection' SubClassOf 'inborn error of immunity' 'primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'syndromic disease' 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014719 developmental and epileptic encephalopathy, 35 'developmental and epileptic encephalopathy, 35' SubClassOf 'inherited neurodegenerative disorder' 'developmental and epileptic encephalopathy, 35' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 35' SubClassOf 'inborn disorder of purine metabolism' 'developmental and epileptic encephalopathy, 35' SubClassOf 'inherited neurodegenerative disorder' 'developmental and epileptic encephalopathy, 35' SubClassOf 'inborn disorder of purine metabolism' 'developmental and epileptic encephalopathy, 35' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014711 autosomal dominant Charcot-Marie-Tooth disease type 2W 'autosomal dominant Charcot-Marie-Tooth disease type 2W' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'autosomal dominant Charcot-Marie-Tooth disease type 2W' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014727 immunodeficiency 45 'immunodeficiency 45' SubClassOf 'immunodeficiency disease' 'immunodeficiency 45' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 'spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome' SubClassOf 'neurometabolic disorder due to serine deficiency' 'spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome' SubClassOf 'neurometabolic disorder due to serine deficiency' http://purl.obolibrary.org/obo/MONDO_0014720 autosomal dominant optic atrophy plus syndrome 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'mitochondrial disease' 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'autosomal dominant optic atrophy' 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'mitochondrial disease' 'autosomal dominant optic atrophy plus syndrome' SubClassOf 'autosomal dominant optic atrophy' http://purl.obolibrary.org/obo/MONDO_0014723 PMP22-RAI1 contiguous gene duplication syndrome 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'genetic disorder' 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'syndromic disease' 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'genetic disorder' 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014722 Roifman syndrome 'Roifman syndrome' SubClassOf 'immune system disease' 'Roifman syndrome' SubClassOf 'RNU4ATAC spectrum disorder' 'Roifman syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Roifman syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'Roifman syndrome' SubClassOf 'immune system disease' 'Roifman syndrome' SubClassOf 'RNU4ATAC spectrum disorder' 'Roifman syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Roifman syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0014738 autosomal dominant nonsyndromic hearing loss 69 'autosomal dominant nonsyndromic hearing loss 69' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 69' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0014736 Charcot-Marie-Tooth disease axonal type 2Z 'Charcot-Marie-Tooth disease axonal type 2Z' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2Z' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014735 Charcot-Marie-Tooth disease type 2Y 'Charcot-Marie-Tooth disease type 2Y' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2Y' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014733 Charcot-Marie-Tooth disease type 4K 'Charcot-Marie-Tooth disease type 4K' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4K' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0014732 hypomyelinating leukodystrophy 12 'hypomyelinating leukodystrophy 12' SubClassOf 'leukodystrophy' 'hypomyelinating leukodystrophy 12' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0000105 anemia, nonspherocytic hemolytic 'anemia, nonspherocytic hemolytic' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'anemia, nonspherocytic hemolytic' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0000104 anemia, hypochromic microcytic with iron overload 'anemia, hypochromic microcytic with iron overload' SubClassOf 'hypochromic microcytic anemia' 'anemia, hypochromic microcytic with iron overload' SubClassOf 'hypochromic microcytic anemia' http://purl.obolibrary.org/obo/MONDO_0014749 tooth agenesis, selective, 7 'tooth agenesis, selective, 7' SubClassOf 'tooth agenesis' 'tooth agenesis, selective, 7' SubClassOf 'tooth agenesis' http://purl.obolibrary.org/obo/MONDO_0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 'progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'syndromic disease' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'genetic disorder' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'disorder of visual system' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'syndromic disease' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'genetic disorder' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0014741 DeSanto-Shinawi syndrome due to WAC point mutation 'DeSanto-Shinawi syndrome due to WAC point mutation' SubClassOf 'DeSanto-Shinawi syndrome' 'DeSanto-Shinawi syndrome due to WAC point mutation' SubClassOf 'DeSanto-Shinawi syndrome' http://purl.obolibrary.org/obo/MONDO_0014746 SLC39A8-CDG 'SLC39A8-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'SLC39A8-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC39A8-CDG' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SLC39A8-CDG' SubClassOf 'disorder of protein N-glycosylation' 'SLC39A8-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC39A8-CDG' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'SLC39A8-CDG' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 'acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf 'syndromic disease' 'acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' 'acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf 'syndromic disease' 'acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014743 rhizomelic chondrodysplasia punctata type 5 'rhizomelic chondrodysplasia punctata type 5' SubClassOf 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' 'rhizomelic chondrodysplasia punctata type 5' SubClassOf 'peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain' http://purl.obolibrary.org/obo/MONDO_0000108 bacteremia, susceptibility 'bacteremia, susceptibility' SubClassOf 'inherited disease susceptibility' 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'bacteriemia') 'bacteremia, susceptibility' SubClassOf 'predisposes towards' some 'bacteriemia' 'bacteremia, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'bacteriemia' 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'bacteriemia') 'bacteremia, susceptibility' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0000107 auriculocondylar syndrome 'auriculocondylar syndrome' SubClassOf 'ear malformation' 'auriculocondylar syndrome' SubClassOf 'ear malformation' http://purl.obolibrary.org/obo/MONDO_0000110 bifid nose 'bifid nose' SubClassOf 'otorhinolaryngologic disease' 'bifid nose' SubClassOf 'facial cleft' 'bifid nose' SubClassOf 'otorhinolaryngologic disease' 'bifid nose' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0000115 Chiari malformation 'Chiari malformation' SubClassOf 'genetic disorder' 'Chiari malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 'palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'syndromic disease' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'syndromic disease' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0014754 primary coenzyme Q10 deficiency 8 'primary coenzyme Q10 deficiency 8' SubClassOf 'coenzyme Q10 deficiency' 'primary coenzyme Q10 deficiency 8' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0000119 congenital heart defects, multiple types 'congenital heart defects, multiple types' SubClassOf 'congenital heart disease' 'congenital heart defects, multiple types' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0000118 reticulate pigment disorder 'reticulate pigment disorder' SubClassOf 'skin pigmentation disorder' 'reticulate pigment disorder' SubClassOf 'skin pigmentation disorder' http://purl.obolibrary.org/obo/MONDO_0000127 geleophysic dysplasia 'geleophysic dysplasia' SubClassOf 'acromelic dysplasia' 'geleophysic dysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0014769 inherited oocyte maturation defect 'inherited oocyte maturation defect' SubClassOf 'infertility' 'inherited oocyte maturation defect' SubClassOf 'genetic disorder' 'inherited oocyte maturation defect' SubClassOf 'infertility' 'inherited oocyte maturation defect' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'complex hereditary spastic paraplegia' 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'monogenic epilepsy' 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'complex hereditary spastic paraplegia' 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0014768 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 'cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2' SubClassOf 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' 'cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2' SubClassOf 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' http://purl.obolibrary.org/obo/MONDO_0014766 leukodystrophy and acquired microcephaly with or without dystonia; 'leukodystrophy and acquired microcephaly with or without dystonia;' SubClassOf 'genetic disorder' 'leukodystrophy and acquired microcephaly with or without dystonia;' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014765 wooly hair, autosomal recessive 3 'wooly hair, autosomal recessive 3' SubClassOf 'isolated familial wooly hair disorder' 'wooly hair, autosomal recessive 3' SubClassOf 'isolated familial wooly hair disorder' http://purl.obolibrary.org/obo/MONDO_0000128 giant axonal neuropathy 'giant axonal neuropathy' SubClassOf 'axonal neuropathy' 'giant axonal neuropathy' SubClassOf 'axonal neuropathy' http://purl.obolibrary.org/obo/MONDO_0014760 TFRC-related combined immunodeficiency 'TFRC-related combined immunodeficiency' SubClassOf 'immunodeficiency disease' 'TFRC-related combined immunodeficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0000133 immunodeficiency-centromeric instability-facial anomalies syndrome 'immunodeficiency-centromeric instability-facial anomalies syndrome' SubClassOf 'telomere syndrome' 'immunodeficiency-centromeric instability-facial anomalies syndrome' SubClassOf 'autosomal recessive disease' 'immunodeficiency-centromeric instability-facial anomalies syndrome' SubClassOf 'telomere syndrome' 'immunodeficiency-centromeric instability-facial anomalies syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0000136 keratosis follicularis spinulosa decalvans 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis pilaris atrophicans' 'keratosis follicularis spinulosa decalvans' SubClassOf 'disorder of polyamine metabolism' 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis pilaris atrophicans' 'keratosis follicularis spinulosa decalvans' SubClassOf 'disorder of polyamine metabolism' 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis' http://purl.obolibrary.org/obo/MONDO_0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014772 orofacial cleft 15 'orofacial cleft 15' SubClassOf 'cleft lip/palate' 'orofacial cleft 15' SubClassOf 'cleft lip/palate' http://www.ebi.ac.uk/efo/EFO_0007302 hepatic tuberculosis 'hepatic tuberculosis' SubClassOf 'gastrointestinal tuberculosis' 'hepatic tuberculosis' SubClassOf 'gastrointestinal tuberculosis' http://purl.obolibrary.org/obo/MONDO_0000148 pulmonary fibrosis and/or bone marrow failure, telomere-related 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'telomere syndrome' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'pulmonary fibrosis' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'telomere syndrome' 'pulmonary fibrosis and/or bone marrow failure, telomere-related' SubClassOf 'pulmonary fibrosis' http://purl.obolibrary.org/obo/MONDO_0000147 polyposis 'polyposis' SubClassOf 'neoplastic polyp' 'polyposis' SubClassOf 'neoplastic polyp' http://www.ebi.ac.uk/efo/EFO_0007306 herpangina 'herpangina' SubClassOf 'viral disease' 'herpangina' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007305 hepatitis A virus infection 'hepatitis A virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis A virus infection' SubClassOf 'viral human hepatitis infection' http://www.ebi.ac.uk/efo/EFO_0007303 hepatitis E virus infection 'hepatitis E virus infection' SubClassOf 'viral human hepatitis infection' 'hepatitis E virus infection' SubClassOf 'viral human hepatitis infection' http://purl.obolibrary.org/obo/MONDO_0000141 mosaic variegated aneuploidy syndrome 'mosaic variegated aneuploidy syndrome' SubClassOf 'chromosomal disorder' 'mosaic variegated aneuploidy syndrome' SubClassOf 'hereditary neoplastic syndrome' 'mosaic variegated aneuploidy syndrome' SubClassOf 'chromosomal disorder' 'mosaic variegated aneuploidy syndrome' SubClassOf 'hereditary neoplastic syndrome' http://www.ebi.ac.uk/efo/EFO_0007307 Herpes simplex virus gingivostomatitis 'Herpes simplex virus gingivostomatitis' SubClassOf 'stomatitis' 'Herpes simplex virus gingivostomatitis' SubClassOf 'Herpes simplex infection' 'Herpes simplex virus gingivostomatitis' SubClassOf 'stomatitis' 'Herpes simplex virus gingivostomatitis' SubClassOf 'Herpes simplex infection' http://purl.obolibrary.org/obo/MONDO_0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 'severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome' SubClassOf 'congenital myopathy' 'severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0014789 CCDC115-CDG 'CCDC115-CDG' SubClassOf 'disorder of multiple glycosylation' 'CCDC115-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'CCDC115-CDG' SubClassOf 'disorder of multiple glycosylation' 'CCDC115-CDG' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0014788 autosomal recessive limb-girdle muscular dystrophy type 2W 'autosomal recessive limb-girdle muscular dystrophy type 2W' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2W' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0014782 autosomal recessive limb-girdle muscular dystrophy type 2X 'autosomal recessive limb-girdle muscular dystrophy type 2X' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2X' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0000156 trigonocephaly 'trigonocephaly' SubClassOf 'disease has major feature' some 'Trigonocephaly' 'trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Trigonocephaly' http://purl.obolibrary.org/obo/MONDO_0000153 transposition of the great arteries 'transposition of the great arteries' SubClassOf 'congenital heart malformation' 'transposition of the great arteries' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0000159 bone marrow failure syndrome 'bone marrow failure syndrome' SubClassOf 'bone marrow disorder' 'bone marrow failure syndrome' SubClassOf 'bone marrow disorder' http://purl.obolibrary.org/obo/MONDO_0000152 thiamine-responsive dysfunction syndrome 'thiamine-responsive dysfunction syndrome' SubClassOf 'disorder of thiamine metabolism and transport' 'thiamine-responsive dysfunction syndrome' SubClassOf 'disease responds to' some 'vitamin B1' 'thiamine-responsive dysfunction syndrome' SubClassOf 'disorder of thiamine metabolism and transport' 'thiamine-responsive dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'vitamin B1' http://purl.obolibrary.org/obo/MONDO_0014795 exercise intolerance, riboflavin-responsive 'exercise intolerance, riboflavin-responsive' SubClassOf 'genetic disorder' 'exercise intolerance, riboflavin-responsive' SubClassOf 'disease responds to' some 'riboflavin' 'exercise intolerance, riboflavin-responsive' SubClassOf 'genetic disorder' 'exercise intolerance, riboflavin-responsive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'riboflavin' http://purl.obolibrary.org/obo/MONDO_0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome 'microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf 'sterol biosynthesis disorder' 'microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf 'sterol biosynthesis disorder' http://purl.obolibrary.org/obo/MONDO_0014791 Luscan-Lumish syndrome 'Luscan-Lumish syndrome' SubClassOf 'syndromic disease' 'Luscan-Lumish syndrome' SubClassOf 'genetic disorder' 'Luscan-Lumish syndrome' SubClassOf 'syndromic disease' 'Luscan-Lumish syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014790 TMEM199-CDG 'TMEM199-CDG' SubClassOf 'disorder of multiple glycosylation' 'TMEM199-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'TMEM199-CDG' SubClassOf 'disorder of multiple glycosylation' 'TMEM199-CDG' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0014566 Charcot-Marie-Tooth disease axonal type 2U 'Charcot-Marie-Tooth disease axonal type 2U' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2U' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014564 congenital bile acid synthesis defect 5 'congenital bile acid synthesis defect 5' SubClassOf 'disorder of peroxisomal transporter' 'congenital bile acid synthesis defect 5' SubClassOf 'Congenital bile acid synthesis defect' 'congenital bile acid synthesis defect 5' SubClassOf 'disorder of peroxisomal transporter' 'congenital bile acid synthesis defect 5' SubClassOf 'Congenital bile acid synthesis defect' http://purl.obolibrary.org/obo/MONDO_0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency 'mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency' SubClassOf 'mitochondrial disease' 'mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0014568 hereditary spastic paraplegia 73 'hereditary spastic paraplegia 73' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 73' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014567 glutamate pyruvate transaminase 2 deficiency 'glutamate pyruvate transaminase 2 deficiency' SubClassOf 'complex hereditary spastic paraplegia' 'glutamate pyruvate transaminase 2 deficiency' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 'neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf 'coenzyme Q10 deficiency' 'neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0014561 3-methylglutaconic aciduria, type VIIB '3-methylglutaconic aciduria, type VIIB' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria, type VIIB' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0014576 lipoyl transferase 1 deficiency 'lipoyl transferase 1 deficiency' SubClassOf 'inherited lipoic acid biosynthesis defect' 'lipoyl transferase 1 deficiency' SubClassOf 'inherited lipoic acid biosynthesis defect' http://purl.obolibrary.org/obo/MONDO_0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'genetic disorder' 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'syndromic disease' 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'integumentary system disease' 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'genetic disorder' 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'syndromic disease' 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0014578 congenital myasthenic syndrome 17 'congenital myasthenic syndrome 17' SubClassOf 'postsynaptic congenital myasthenic syndrome' 'congenital myasthenic syndrome 17' SubClassOf 'postsynaptic congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_0014572 Lichtenstein-Knorr syndrome 'Lichtenstein-Knorr syndrome' SubClassOf 'autosomal recessive cerebellar ataxia' 'Lichtenstein-Knorr syndrome' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014587 congenital myasthenic syndrome 9 'congenital myasthenic syndrome 9' SubClassOf 'postsynaptic congenital myasthenic syndrome' 'congenital myasthenic syndrome 9' SubClassOf 'postsynaptic congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_0014589 maturity-onset diabetes of the young type 13 'maturity-onset diabetes of the young type 13' SubClassOf 'maturity-onset diabetes of the young' 'maturity-onset diabetes of the young type 13' SubClassOf 'maturity-onset diabetes of the young' http://purl.obolibrary.org/obo/MONDO_0014597 immunodeficiency 39 'immunodeficiency 39' SubClassOf 'inborn error of immunity' 'immunodeficiency 39' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0014593 developmental and epileptic encephalopathy, 29 'developmental and epileptic encephalopathy, 29' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 29' SubClassOf 'undetermined early-onset epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014592 microcephaly and chorioretinopathy 3 'microcephaly and chorioretinopathy 3' SubClassOf 'microcephaly and chorioretinopathy' 'microcephaly and chorioretinopathy 3' SubClassOf 'microcephaly and chorioretinopathy' http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014605 Houge-Janssens syndrome 2 'Houge-Janssens syndrome 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Houge-Janssens syndrome 2' SubClassOf 'Houge-Janssens syndrome' 'Houge-Janssens syndrome 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Houge-Janssens syndrome 2' SubClassOf 'Houge-Janssens syndrome' http://purl.obolibrary.org/obo/MONDO_0014608 mandibulofacial dysostosis with alopecia 'mandibulofacial dysostosis with alopecia' SubClassOf 'integumentary system disease' 'mandibulofacial dysostosis with alopecia' SubClassOf 'syndromic disease' 'mandibulofacial dysostosis with alopecia' SubClassOf 'dysostosis' 'mandibulofacial dysostosis with alopecia' SubClassOf 'mandibulofacial dysostosis' 'mandibulofacial dysostosis with alopecia' SubClassOf 'integumentary system disease' 'mandibulofacial dysostosis with alopecia' SubClassOf 'syndromic disease' 'mandibulofacial dysostosis with alopecia' SubClassOf 'dysostosis' 'mandibulofacial dysostosis with alopecia' SubClassOf 'mandibulofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0014603 autosomal dominant nonsyndromic hearing loss 40 'autosomal dominant nonsyndromic hearing loss 40' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 40' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0014602 Hogue-Janssens syndrome 1 'Hogue-Janssens syndrome 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hogue-Janssens syndrome 1' SubClassOf 'Houge-Janssens syndrome' 'Hogue-Janssens syndrome 1' SubClassOf 'syndromic intellectual disability' 'Hogue-Janssens syndrome 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hogue-Janssens syndrome 1' SubClassOf 'Houge-Janssens syndrome' 'Hogue-Janssens syndrome 1' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014601 autosomal recessive spinocerebellar ataxia 20 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014618 retinitis pigmentosa 71 'retinitis pigmentosa 71' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 71' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0014615 trichothiodystrophy 2, photosensitive 'trichothiodystrophy 2, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' 'trichothiodystrophy 2, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' http://purl.obolibrary.org/obo/MONDO_0014619 trichothiodystrophy 3, photosensitive 'trichothiodystrophy 3, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' 'trichothiodystrophy 3, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' http://purl.obolibrary.org/obo/MONDO_0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 'pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3' SubClassOf 'dyskeratosis congenita and related telomere biology disorder' 'pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' 'pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3' SubClassOf 'dyskeratosis congenita and related telomere biology disorder' 'pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' http://purl.obolibrary.org/obo/MONDO_0014611 multiple mitochondrial dysfunctions syndrome 4 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'eye degenerative disorder' 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'leukodystrophy' 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'eye degenerative disorder' 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'respiratory system disease' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'type 1 interferonopathy of childhood' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'respiratory system disease' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'type 1 interferonopathy of childhood' http://purl.obolibrary.org/obo/MONDO_0014628 basal ganglia calcification, idiopathic, 6 'basal ganglia calcification, idiopathic, 6' SubClassOf 'bilateral striopallidodentate calcinosis' 'basal ganglia calcification, idiopathic, 6' SubClassOf 'bilateral striopallidodentate calcinosis' http://purl.obolibrary.org/obo/MONDO_0014621 Brugada syndrome 9 'Brugada syndrome 9' SubClassOf 'Brugada syndrome' 'Brugada syndrome 9' SubClassOf 'Brugada syndrome' http://purl.obolibrary.org/obo/MONDO_0014620 myoclonic dystonia 26 'myoclonic dystonia 26' SubClassOf 'myoclonus-dystonia syndrome' 'myoclonic dystonia 26' SubClassOf 'myoclonus-dystonia syndrome' http://purl.obolibrary.org/obo/GO_0006139 nucleobase-containing compound metabolic process 'nucleobase-containing compound metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy 7 'familial temporal lobe epilepsy 7' SubClassOf 'temporal lobe epilepsy' 'familial temporal lobe epilepsy 7' SubClassOf 'temporal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0014637 DOCK2 deficiency 'DOCK2 deficiency' SubClassOf 'immunodeficiency disease' 'DOCK2 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014632 hypomyelinating leukodystrophy 10 'hypomyelinating leukodystrophy 10' SubClassOf 'leukodystrophy' 'hypomyelinating leukodystrophy 10' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability 'hypomagnesemia, seizures, and intellectual disability' SubClassOf 'familial primary hypomagnesemia with normocalciuria and normocalcemia' 'hypomagnesemia, seizures, and intellectual disability' SubClassOf 'familial primary hypomagnesemia with normocalciuria and normocalcemia' http://purl.obolibrary.org/obo/MONDO_0014636 combined oxidative phosphorylation defect type 25 'combined oxidative phosphorylation defect type 25' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 25' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014635 microphthalmia, isolated, with coloboma 10 'microphthalmia, isolated, with coloboma 10' SubClassOf 'microphthalmia, isolated, with coloboma' 'microphthalmia, isolated, with coloboma 10' SubClassOf 'microphthalmia, isolated, with coloboma' http://purl.obolibrary.org/obo/MONDO_0000005 alopecia, isolated 'alopecia, isolated' SubClassOf 'hereditary skin disorder' 'alopecia, isolated' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014641 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'frontotemporal dementia and/or amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'familial amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'frontotemporal dementia with motor neuron disease' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'frontotemporal dementia and/or amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'familial amyotrophic lateral sclerosis' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'frontotemporal dementia with motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0014646 Zimmermann-Laband syndrome 2 'Zimmermann-Laband syndrome 2' SubClassOf 'Zimmermann-Laband syndrome' 'Zimmermann-Laband syndrome 2' SubClassOf 'Zimmermann-Laband syndrome' http://purl.obolibrary.org/obo/MONDO_0014645 BENTA disease 'BENTA disease' SubClassOf 'inborn error of immunity' 'BENTA disease' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0014644 hereditary spastic paraplegia 74 'hereditary spastic paraplegia 74' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 74' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type 'inherited bleeding disorder, platelet-type' SubClassOf 'blood platelet disease' 'inherited bleeding disorder, platelet-type' SubClassOf 'hemorrhagic disease' 'inherited bleeding disorder, platelet-type' SubClassOf 'blood platelet disease' 'inherited bleeding disorder, platelet-type' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0000015 classic complement early component deficiency 'classic complement early component deficiency' SubClassOf 'complement deficiency' 'classic complement early component deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0000014 colorblindness, partial 'colorblindness, partial' SubClassOf 'color vision disorder' 'colorblindness, partial' SubClassOf 'color vision disorder' http://purl.obolibrary.org/obo/MONDO_0014659 infantile liver failure syndrome 2 'infantile liver failure syndrome 2' SubClassOf 'infantile liver failure' 'infantile liver failure syndrome 2' SubClassOf 'infantile liver failure' http://purl.obolibrary.org/obo/MONDO_0014654 Ullrich congenital muscular dystrophy 2 'Ullrich congenital muscular dystrophy 2' SubClassOf 'Ullrich congenital muscular dystrophy' 'Ullrich congenital muscular dystrophy 2' SubClassOf 'Ullrich congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'FGFR3-related chondrodysplasia' 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'autosomal dominant disease' 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'FGFR3-related chondrodysplasia' 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2' SubClassOf 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2' SubClassOf 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0700270 ATM-related cancer predisposition 'ATM-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' 'ATM-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0000023 infantile liver failure 'infantile liver failure' SubClassOf 'genetic disorder' 'infantile liver failure' SubClassOf 'liver failure' 'infantile liver failure' SubClassOf 'genetic disorder' 'infantile liver failure' SubClassOf 'liver failure' http://purl.obolibrary.org/obo/MONDO_0700272 PALB2-related cancer predisposition 'PALB2-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' 'PALB2-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0014665 Charcot-Marie-Tooth disease axonal type 2V 'Charcot-Marie-Tooth disease axonal type 2V' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2V' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014664 Joubert syndrome 23 'Joubert syndrome 23' SubClassOf 'Joubert syndrome' 'Joubert syndrome 23' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0014662 congenital insensitivity to pain-hypohidrosis syndrome 'congenital insensitivity to pain-hypohidrosis syndrome' SubClassOf 'hereditary sensory and autonomic neuropathy' 'congenital insensitivity to pain-hypohidrosis syndrome' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0700266 paraneoplastic cutaneous syndrome 'paraneoplastic cutaneous syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic cutaneous syndrome' SubClassOf 'paraneoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0700269 BRCA2-related cancer predisposition 'BRCA2-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' 'BRCA2-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0700268 BRCA1-related cancer predisposition 'BRCA1-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' 'BRCA1-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0014661 epidermolysis bullosa simplex with nail dystrophy 'epidermolysis bullosa simplex with nail dystrophy' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex with nail dystrophy' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0700263 RNU7-1-related type 1 interferonopathy 'RNU7-1-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' 'RNU7-1-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0700262 IFIH1-related type 1 interferonopathy 'IFIH1-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' 'IFIH1-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0700261 ADAR-related type 1 interferonopathy 'ADAR-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' 'ADAR-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0000032 febrile seizures, familial 'febrile seizures, familial' SubClassOf 'genetic disorder' 'febrile seizures, familial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014678 intellectual disability, autosomal dominant 39 'intellectual disability, autosomal dominant 39' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability, autosomal dominant 39' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0700256 TREX1-related type 1 interferonopathy 'TREX1-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' 'TREX1-related type 1 interferonopathy' SubClassOf 'type 1 interferonopathy' http://purl.obolibrary.org/obo/MONDO_0700255 paraneoplastic renal syndrome 'paraneoplastic renal syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic renal syndrome' SubClassOf 'paraneoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0700252 parneoplastic endocrine syndrome 'parneoplastic endocrine syndrome' SubClassOf 'paraneoplastic syndrome' 'parneoplastic endocrine syndrome' SubClassOf 'paraneoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0014671 neuropathy, hereditary motor and sensory, type 6B 'neuropathy, hereditary motor and sensory, type 6B' SubClassOf 'motor peripheral neuropathy' 'neuropathy, hereditary motor and sensory, type 6B' SubClassOf 'hereditary motor and sensory neuropathy type 6' 'neuropathy, hereditary motor and sensory, type 6B' SubClassOf 'motor peripheral neuropathy' 'neuropathy, hereditary motor and sensory, type 6B' SubClassOf 'hereditary motor and sensory neuropathy type 6' http://purl.obolibrary.org/obo/MONDO_0700254 paraneoplastic gastrointestinal syndrome 'paraneoplastic gastrointestinal syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic gastrointestinal syndrome' SubClassOf 'paraneoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0700253 paraneoplastic hematological syndrome 'paraneoplastic hematological syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic hematological syndrome' SubClassOf 'paraneoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0014444 Bardet-Biedl syndrome 16 'Bardet-Biedl syndrome 16' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 16' SubClassOf 'Bardet-Biedl syndrome' http://purl.obolibrary.org/obo/MONDO_0014443 Bardet-Biedl syndrome 15 'Bardet-Biedl syndrome 15' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 15' SubClassOf 'Bardet-Biedl syndrome' http://purl.obolibrary.org/obo/MONDO_0014442 Bardet-Biedl syndrome 14 'Bardet-Biedl syndrome 14' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 14' SubClassOf 'CEP290-related ciliopathy' 'Bardet-Biedl syndrome 14' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 14' SubClassOf 'CEP290-related ciliopathy' http://purl.obolibrary.org/obo/MONDO_0700249 epidermolytic hyperkeratosis 1 'epidermolytic hyperkeratosis 1' SubClassOf 'epidermolytic ichthyosis' 'epidermolytic hyperkeratosis 1' SubClassOf 'epidermolytic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0700247 RAB18 deficiency 'RAB18 deficiency' SubClassOf 'syndromic microphthalmia' 'RAB18 deficiency' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0700240 BEST1-related vitreoretinochoroidopathy 'BEST1-related vitreoretinochoroidopathy' SubClassOf 'vitreoretinal degeneration' 'BEST1-related vitreoretinochoroidopathy' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0700243 CACNA1F-related retinopathy 'CACNA1F-related retinopathy' SubClassOf 'inherited retinal dystrophy' 'CACNA1F-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process 'organic acid metabolic process' SubClassOf 'organic substance metabolic process' http://purl.obolibrary.org/obo/MONDO_0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'hereditary endocrine growth disease' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'hereditary peripheral neuropathy' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'hereditary endocrine growth disease' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'hereditary peripheral neuropathy' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 'Hennekam lymphangiectasia-lymphedema syndrome 2' SubClassOf 'Hennekam syndrome' 'Hennekam lymphangiectasia-lymphedema syndrome 2' SubClassOf 'Hennekam syndrome' http://purl.obolibrary.org/obo/MONDO_0014453 immunodeficiency 36 'immunodeficiency 36' SubClassOf 'activated PI3K-delta syndrome' 'immunodeficiency 36' SubClassOf 'activated PI3K-delta syndrome' http://purl.obolibrary.org/obo/MONDO_0700238 BEST1-related dominant retinopathy 'BEST1-related dominant retinopathy' SubClassOf 'inherited retinal dystrophy' 'BEST1-related dominant retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0700239 BEST1-related recessive retinopathy 'BEST1-related recessive retinopathy' SubClassOf 'inherited retinal dystrophy' 'BEST1-related recessive retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0014452 familial dysfibrinogenemia 'familial dysfibrinogenemia' SubClassOf 'congenital fibrinogen deficiency' 'familial dysfibrinogenemia' SubClassOf 'congenital fibrinogen deficiency' http://purl.obolibrary.org/obo/MONDO_0700230 GPR143-related foveal hypoplasia 'GPR143-related foveal hypoplasia' SubClassOf 'foveal hypoplasia' 'GPR143-related foveal hypoplasia' SubClassOf 'foveal hypoplasia' http://purl.obolibrary.org/obo/MONDO_0968951 hypouricemia, renal 'hypouricemia, renal' SubClassOf 'hereditary renal hypouricemia' 'hypouricemia, renal' SubClassOf 'hereditary renal hypouricemia' http://purl.obolibrary.org/obo/MONDO_0014451 focal segmental glomerulosclerosis 7 'focal segmental glomerulosclerosis 7' SubClassOf 'inherited focal segmental glomerulosclerosis' 'focal segmental glomerulosclerosis 7' SubClassOf 'inherited focal segmental glomerulosclerosis' http://purl.obolibrary.org/obo/MONDO_0014450 breasts and/or nipples, aplasia or hypoplasia of, 2 'breasts and/or nipples, aplasia or hypoplasia of, 2' SubClassOf 'isolated congenital breast hypoplasia/aplasia' 'breasts and/or nipples, aplasia or hypoplasia of, 2' SubClassOf 'isolated congenital breast hypoplasia/aplasia' http://purl.obolibrary.org/obo/GO_0006094 gluconeogenesis 'gluconeogenesis' SubClassOf 'organic substance biosynthetic process' 'gluconeogenesis' SubClassOf 'biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0014467 Charcot-Marie-Tooth disease recessive intermediate D 'Charcot-Marie-Tooth disease recessive intermediate D' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease recessive intermediate D' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0014466 Neu-Laxova syndrome 2 'Neu-Laxova syndrome 2' SubClassOf 'Neu-Laxova syndrome' 'Neu-Laxova syndrome 2' SubClassOf 'Neu-Laxova syndrome' http://purl.obolibrary.org/obo/MONDO_0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf 'leukodystrophy' 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0700228 LRP5-related exudative vitreoretinopathy 'LRP5-related exudative vitreoretinopathy' SubClassOf 'exudative vitreoretinopathy' 'LRP5-related exudative vitreoretinopathy' SubClassOf 'exudative vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_0700223 hereditary skeletal muscle disorder 'hereditary skeletal muscle disorder' SubClassOf 'genetic disorder' 'hereditary skeletal muscle disorder' SubClassOf 'skeletal muscle disorder' 'hereditary skeletal muscle disorder' SubClassOf 'genetic disorder' 'hereditary skeletal muscle disorder' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0700222 disease related to hematopoietic stem cell transplant 'disease related to hematopoietic stem cell transplant' SubClassOf 'disease related to transplantation' 'disease related to hematopoietic stem cell transplant' SubClassOf 'disease related to transplantation' http://purl.obolibrary.org/obo/MONDO_0700225 hereditary gallbladder disorder 'hereditary gallbladder disorder' SubClassOf 'gallbladder disease' 'hereditary gallbladder disorder' SubClassOf 'gallbladder disease' http://purl.obolibrary.org/obo/MONDO_0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 'nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf 'hyperpigmentation of the skin' 'nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf 'focal palmoplantar keratoderma' 'nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf 'hyperpigmentation of the skin' 'nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014478 mirror movements 3 'mirror movements 3' SubClassOf 'familial congenital mirror movements' 'mirror movements 3' SubClassOf 'familial congenital mirror movements' http://purl.obolibrary.org/obo/MONDO_0014476 episodic ataxia type 8 'episodic ataxia type 8' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 8' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0014470 autosomal dominant nonsyndromic hearing loss 65 'autosomal dominant nonsyndromic hearing loss 65' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 65' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0014474 autosomal recessive limb-girdle muscular dystrophy type 2U 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014472 periodic fever-infantile enterocolitis-autoinflammatory syndrome 'periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf 'hereditary periodic fever syndrome' 'periodic fever-infantile enterocolitis-autoinflammatory syndrome' SubClassOf 'hereditary periodic fever syndrome' http://purl.obolibrary.org/obo/MONDO_0014471 mitochondrial proton-transporting ATP synthase complex deficiency 'mitochondrial proton-transporting ATP synthase complex deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' 'mitochondrial proton-transporting ATP synthase complex deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014489 limb-girdle muscular dystrophy due to POMK deficiency 'limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'limb-girdle muscular dystrophy due to POMK deficiency' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014487 congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'inherited sideroblastic anemia' 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'immune system disease' 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'syndromic disease' 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'inherited sideroblastic anemia' 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'immune system disease' 'congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0700204 trichostrongyloidiasis, non-human animal 'trichostrongyloidiasis, non-human animal' SubClassOf 'infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0700206 Parvoviridae infectious disease, non-human animal 'Parvoviridae infectious disease, non-human animal' SubClassOf 'infectious disease, non-human animal' 'Parvoviridae infectious disease, non-human animal' SubClassOf 'viral infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0014481 inflammatory skin and bowel disease, neonatal, 2 'inflammatory skin and bowel disease, neonatal, 2' SubClassOf 'neonatal inflammatory skin and bowel disease' 'inflammatory skin and bowel disease, neonatal, 2' SubClassOf 'neonatal inflammatory skin and bowel disease' http://purl.obolibrary.org/obo/MONDO_0700203 pestivirus infectious disease, non-human animal 'pestivirus infectious disease, non-human animal' SubClassOf 'infectious disease, non-human animal' 'pestivirus infectious disease, non-human animal' SubClassOf 'viral infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0014483 retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 'retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'inherited retinal dystrophy' 'retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0014482 intellectual disability, autosomal dominant 29 'intellectual disability, autosomal dominant 29' SubClassOf 'syndromic disease' 'intellectual disability, autosomal dominant 29' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014498 familial cold autoinflammatory syndrome 4 'familial cold autoinflammatory syndrome 4' SubClassOf 'familial cold autoinflammatory syndrome' 'familial cold autoinflammatory syndrome 4' SubClassOf 'familial cold autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0014497 polyendocrine-polyneuropathy syndrome 'polyendocrine-polyneuropathy syndrome' SubClassOf 'syndromic disease' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'syndromic disease' 'polyendocrine-polyneuropathy syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0014492 wooly hair-palmoplantar keratoderma syndrome 'wooly hair-palmoplantar keratoderma syndrome' SubClassOf 'focal palmoplantar keratoderma' 'wooly hair-palmoplantar keratoderma syndrome' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014491 immunodeficiency 37 'immunodeficiency 37' SubClassOf 'inborn error of immunity' 'immunodeficiency 37' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency 'ketoacidosis due to monocarboxylate transporter-1 deficiency' SubClassOf 'disorder of fatty acid and ketone body metabolism' 'ketoacidosis due to monocarboxylate transporter-1 deficiency' SubClassOf 'disorder of fatty acid and ketone body metabolism' http://purl.obolibrary.org/obo/MONDO_0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 'autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency' SubClassOf 'autoimmune lymphoproliferative syndrome' 'autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency' SubClassOf 'autoimmune lymphoproliferative syndrome' http://www.ebi.ac.uk/efo/EFO_0007500 Strongylida infectious disease 'Strongylida infectious disease' SubClassOf 'parasitic infection' 'Strongylida infectious disease' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_0007504 syphilis 'syphilis' SubClassOf 'Treponema infectious disease' 'syphilis' SubClassOf 'primary bacterial infectious disease' 'syphilis' SubClassOf 'Treponema infectious disease' 'syphilis' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0007503 suppurative otitis media 'suppurative otitis media' SubClassOf 'Otitis media' 'suppurative otitis media' SubClassOf 'Otitis media' http://purl.obolibrary.org/obo/MONDO_0014507 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Catel-Manzke syndrome' SubClassOf 'skeletal dysplasia' 'Catel-Manzke syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Catel-Manzke syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014506 hypomyelinating leukodystrophy 9 'hypomyelinating leukodystrophy 9' SubClassOf 'leukodystrophy' 'hypomyelinating leukodystrophy 9' SubClassOf 'leukodystrophy' http://www.ebi.ac.uk/efo/EFO_0007502 subacute sclerosing panencephalitis 'subacute sclerosing panencephalitis' SubClassOf 'viral encephalitis' 'subacute sclerosing panencephalitis' SubClassOf 'viral encephalitis' http://www.ebi.ac.uk/efo/EFO_0007501 strongyloidiasis 'strongyloidiasis' SubClassOf 'Rhabditida infectious disease' 'strongyloidiasis' SubClassOf 'Rhabditida infectious disease' http://www.ebi.ac.uk/efo/EFO_0007508 tick infestation 'tick infestation' SubClassOf 'parasitic ectoparasitic infectious disease' 'tick infestation' SubClassOf 'parasitic ectoparasitic infectious disease' http://www.ebi.ac.uk/efo/EFO_0007507 thoracic outlet syndrome 'thoracic outlet syndrome' SubClassOf 'syndromic disease' 'thoracic outlet syndrome' SubClassOf 'vascular disease' 'thoracic outlet syndrome' SubClassOf 'syndromic disease' 'thoracic outlet syndrome' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0007506 theileriasis 'theileriasis' SubClassOf 'protozoa infectious disease' 'theileriasis' SubClassOf 'protozoa infectious disease' http://www.ebi.ac.uk/efo/EFO_0007505 tabes dorsalis 'tabes dorsalis' SubClassOf 'infectious disorder of the nervous system' 'tabes dorsalis' SubClassOf 'neurosyphilis' 'tabes dorsalis' SubClassOf 'infectious disorder of the nervous system' 'tabes dorsalis' SubClassOf 'neurosyphilis' http://www.ebi.ac.uk/efo/EFO_0007509 tick paralysis 'tick paralysis' SubClassOf 'tick infestation' 'tick paralysis' SubClassOf 'tick infestation' http://purl.obolibrary.org/obo/MONDO_0014504 Perrault syndrome 5 'Perrault syndrome 5' SubClassOf 'Perrault syndrome' 'Perrault syndrome 5' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0014503 autosomal recessive spinocerebellar ataxia 17 'autosomal recessive spinocerebellar ataxia 17' SubClassOf 'autosomal recessive congenital cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 17' SubClassOf 'autosomal recessive congenital cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014518 platelet-type bleeding disorder 19 'platelet-type bleeding disorder 19' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 19' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0014511 Charcot-Marie-Tooth disease axonal type 2S 'Charcot-Marie-Tooth disease axonal type 2S' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease axonal type 2S' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0014510 fatty acyl-CoA reductase 1 deficiency 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'fatty acyl-CoA reductase defects' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'chondrodysplasia punctata' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'fatty acyl-CoA reductase defects' 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0700170 equine neoplasm 'equine neoplasm' SubClassOf 'horse disease' 'equine neoplasm' SubClassOf 'horse disease' http://www.ebi.ac.uk/efo/EFO_0007522 trichostrongyloidiasis 'trichostrongyloidiasis' SubClassOf 'Helminthiasis' 'trichostrongyloidiasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_0007521 Trichomonas vaginitis 'Trichomonas vaginitis' SubClassOf 'sexually transmitted disease' 'Trichomonas vaginitis' SubClassOf 'trichomoniasis' 'Trichomonas vaginitis' SubClassOf 'sexually transmitted disease' 'Trichomonas vaginitis' SubClassOf 'trichomoniasis' http://www.ebi.ac.uk/efo/EFO_0007526 trombiculiasis 'trombiculiasis' SubClassOf 'mite infestation' 'trombiculiasis' SubClassOf 'mite infestation' http://www.ebi.ac.uk/efo/EFO_0007525 tricuspid valve stenosis 'tricuspid valve stenosis' SubClassOf 'tricuspid valve disease' 'tricuspid valve stenosis' SubClassOf 'aortic disease' 'tricuspid valve stenosis' SubClassOf 'tricuspid valve disease' 'tricuspid valve stenosis' SubClassOf 'aortic disease' http://purl.obolibrary.org/obo/MONDO_0014528 chronic atrial and intestinal dysrhythmia 'chronic atrial and intestinal dysrhythmia' SubClassOf 'syndromic disease' 'chronic atrial and intestinal dysrhythmia' SubClassOf 'genetic disorder' 'chronic atrial and intestinal dysrhythmia' SubClassOf 'intestinal disease' 'chronic atrial and intestinal dysrhythmia' SubClassOf 'syndromic disease' 'chronic atrial and intestinal dysrhythmia' SubClassOf 'genetic disorder' 'chronic atrial and intestinal dysrhythmia' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0014527 progeroid features-hepatocellular carcinoma predisposition syndrome 'progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf 'hereditary neoplastic syndrome' 'progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf 'disorder of development or morphogenesis' 'progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf 'hereditary neoplastic syndrome' 'progeroid features-hepatocellular carcinoma predisposition syndrome' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_0007523 trichostrongylosis 'trichostrongylosis' SubClassOf 'trichostrongyloidiasis' 'trichostrongylosis' SubClassOf 'trichostrongyloidiasis' http://www.ebi.ac.uk/efo/EFO_0007529 tuberculous peritonitis 'tuberculous peritonitis' SubClassOf 'gastrointestinal tuberculosis' 'tuberculous peritonitis' SubClassOf 'gastrointestinal tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007528 tuberculous empyema 'tuberculous empyema' SubClassOf 'pleural empyema' 'tuberculous empyema' SubClassOf 'pleural tuberculosis' 'tuberculous empyema' SubClassOf 'empyema' 'tuberculous empyema' SubClassOf 'pleural empyema' 'tuberculous empyema' SubClassOf 'pleural tuberculosis' 'tuberculous empyema' SubClassOf 'empyema' http://www.ebi.ac.uk/efo/EFO_0007527 tropical spastic paraparesis 'tropical spastic paraparesis' SubClassOf 'infectious disorder of the nervous system' 'tropical spastic paraparesis' SubClassOf 'infectious disorder of the nervous system' http://purl.obolibrary.org/obo/MONDO_0014526 polyglucosan body myopathy type 2 'polyglucosan body myopathy type 2' SubClassOf 'GYG1-related disorder of glycogen metabolism' 'polyglucosan body myopathy type 2' SubClassOf 'polyglucosan body myopathy' 'polyglucosan body myopathy type 2' SubClassOf 'GYG1-related disorder of glycogen metabolism' 'polyglucosan body myopathy type 2' SubClassOf 'polyglucosan body myopathy' http://purl.obolibrary.org/obo/MONDO_0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 'juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome' SubClassOf 'hereditary ataxia' 'juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome' SubClassOf 'hereditary ataxia' http://www.ebi.ac.uk/efo/EFO_0007510 tinea 'tinea' SubClassOf 'skin infection' 'tinea' SubClassOf 'skin infection' http://purl.obolibrary.org/obo/MONDO_0014539 focal segmental glomerulosclerosis 9 'focal segmental glomerulosclerosis 9' SubClassOf 'inherited focal segmental glomerulosclerosis' 'focal segmental glomerulosclerosis 9' SubClassOf 'inherited focal segmental glomerulosclerosis' http://www.ebi.ac.uk/efo/EFO_0007512 tinea pedis 'tinea pedis' SubClassOf 'dermatophytosis' 'tinea pedis' SubClassOf 'dermatophytosis' http://www.ebi.ac.uk/efo/EFO_0007519 trench fever 'trench fever' SubClassOf 'bartonellosis' 'trench fever' SubClassOf 'bartonellosis' http://www.ebi.ac.uk/efo/EFO_0007518 tracheitis 'tracheitis' SubClassOf 'bacterial disease' 'tracheitis' SubClassOf 'tracheal disorder' 'tracheitis' SubClassOf 'bacterial disease' 'tracheitis' SubClassOf 'tracheal disorder' http://www.ebi.ac.uk/efo/EFO_0007517 toxoplasmosis 'toxoplasmosis' SubClassOf 'coccidiosis' 'toxoplasmosis' SubClassOf 'coccidiosis' http://purl.obolibrary.org/obo/MONDO_0014533 developmental and epileptic encephalopathy, 28 'developmental and epileptic encephalopathy, 28' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 28' SubClassOf 'undetermined early-onset epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014532 autosomal dominant mitochondrial myopathy with exercise intolerance 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'metabolic myopathy' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'metabolic myopathy' http://purl.obolibrary.org/obo/MONDO_0014530 autosomal recessive spinocerebellar ataxia 18 'autosomal recessive spinocerebellar ataxia 18' SubClassOf 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' 'autosomal recessive spinocerebellar ataxia 18' SubClassOf 'autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome' http://purl.obolibrary.org/obo/MONDO_0014536 thrombocytopenia 5 'thrombocytopenia 5' SubClassOf 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' 'thrombocytopenia 5' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia 5' SubClassOf 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' 'thrombocytopenia 5' SubClassOf 'inherited thrombocytopenia' http://www.ebi.ac.uk/efo/EFO_0007544 Waterhouse-Friderichsen syndrome 'Waterhouse-Friderichsen syndrome' SubClassOf 'acute adrenal insufficiency' 'Waterhouse-Friderichsen syndrome' SubClassOf 'syndromic disease' 'Waterhouse-Friderichsen syndrome' SubClassOf 'acute adrenal insufficiency' 'Waterhouse-Friderichsen syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007541 viral pneumonia 'viral pneumonia' SubClassOf 'pneumonia' 'viral pneumonia' SubClassOf 'pneumonia' http://www.ebi.ac.uk/efo/EFO_0007547 Wissler's syndrome 'Wissler's syndrome' SubClassOf 'rheumatic disease' 'Wissler's syndrome' SubClassOf 'syndromic disease' 'Wissler's syndrome' SubClassOf 'rheumatic disease' 'Wissler's syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0007549 Zollinger-Ellison Syndrome 'Zollinger-Ellison Syndrome' SubClassOf 'neoplastic syndrome' 'Zollinger-Ellison Syndrome' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0014542 congenital myasthenic syndrome 15 'congenital myasthenic syndrome 15' SubClassOf 'ALG14-congenital disorder of glycosylation' 'congenital myasthenic syndrome 15' SubClassOf 'congenital myasthenic syndrome' 'congenital myasthenic syndrome 15' SubClassOf 'ALG14-congenital disorder of glycosylation' 'congenital myasthenic syndrome 15' SubClassOf 'congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic disease' 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014548 long QT syndrome 14 'long QT syndrome 14' SubClassOf 'familial long QT syndrome' 'long QT syndrome 14' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0014546 myopathy due to calsequestrin and SERCA1 protein overload 'myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'qualitative or quantitative defects of protein SERCA1' 'myopathy due to calsequestrin and SERCA1 protein overload' SubClassOf 'qualitative or quantitative defects of protein SERCA1' http://www.ebi.ac.uk/efo/EFO_0007533 vasomotor rhinitis 'vasomotor rhinitis' SubClassOf 'allergic rhinitis' 'vasomotor rhinitis' SubClassOf 'allergic rhinitis' http://www.ebi.ac.uk/efo/EFO_0007532 uterine corpus cancer 'uterine corpus cancer' SubClassOf 'corpus uteri neoplasm' 'uterine corpus cancer' SubClassOf 'uterine cancer' 'uterine corpus cancer' SubClassOf 'corpus uteri neoplasm' 'uterine corpus cancer' SubClassOf 'uterine cancer' http://www.ebi.ac.uk/efo/EFO_0007531 urogenital tuberculosis 'urogenital tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'urogenital tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007530 urinary schistosomiasis 'urinary schistosomiasis' SubClassOf 'bladder disease' 'urinary schistosomiasis' SubClassOf 'schistosomiasis' 'urinary schistosomiasis' SubClassOf 'bladder disease' 'urinary schistosomiasis' SubClassOf 'schistosomiasis' http://www.ebi.ac.uk/efo/EFO_0007537 vestibular neuronitis 'vestibular neuronitis' SubClassOf 'vestibulocochlear nerve disorder' 'vestibular neuronitis' SubClassOf 'vestibulocochlear nerve disorder' http://www.ebi.ac.uk/efo/EFO_0007536 vesicoureteral reflux 'vesicoureteral reflux' SubClassOf 'ureteral disorder' 'vesicoureteral reflux' SubClassOf 'bladder disease' 'vesicoureteral reflux' SubClassOf 'ureteral disorder' 'vesicoureteral reflux' SubClassOf 'bladder disease' http://www.ebi.ac.uk/efo/EFO_0007535 verrucous carcinoma 'verrucous carcinoma' SubClassOf 'papillary squamous carcinoma' 'verrucous carcinoma' SubClassOf 'papillary squamous carcinoma' http://www.ebi.ac.uk/efo/EFO_0007534 Venezuelan equine encephalitis 'Venezuelan equine encephalitis' SubClassOf 'viral hemorrhagic fever' 'Venezuelan equine encephalitis' SubClassOf 'encephalomyelitis' 'Venezuelan equine encephalitis' SubClassOf 'viral hemorrhagic fever' 'Venezuelan equine encephalitis' SubClassOf 'encephalomyelitis' http://www.ebi.ac.uk/efo/EFO_0007539 viral hemorrhagic septicemia 'viral hemorrhagic septicemia' SubClassOf 'fish disease' 'viral hemorrhagic septicemia' SubClassOf 'Rhabdoviridae infectious disease, non-human animal' 'viral hemorrhagic septicemia' SubClassOf 'fish disease' 'viral hemorrhagic septicemia' SubClassOf 'Rhabdoviridae infectious disease, non-human animal' http://www.ebi.ac.uk/efo/EFO_0007538 viral encephalitis 'viral encephalitis' SubClassOf 'infectious encephalitis' 'viral encephalitis' SubClassOf 'infectious encephalitis' http://purl.obolibrary.org/obo/MONDO_0014555 peeling skin syndrome type A 'peeling skin syndrome type A' SubClassOf 'generalized peeling skin syndrome' 'peeling skin syndrome type A' SubClassOf 'generalized peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0014553 Tenorio syndrome 'Tenorio syndrome' SubClassOf 'genetic disorder' 'Tenorio syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'Meckel syndrome' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'Meckel syndrome' http://purl.obolibrary.org/obo/MONDO_0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 'progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf 'inborn disorder of amino acid transport' 'progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf 'movement disorder' 'progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf 'inborn disorder of amino acid transport' 'progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf 'syndromic craniosynostosis' 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf 'syndromic intellectual disability' 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf 'syndromic intellectual disability' 'autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0014550 long QT syndrome 15 'long QT syndrome 15' SubClassOf 'familial long QT syndrome' 'long QT syndrome 15' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0009804 osteogenesis imperfecta type 3 'osteogenesis imperfecta type 3' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'osteogenesis imperfecta type 3' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 'congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf 'genetic disorder' 'congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009801 familial osteodysplasia, Anderson type 'familial osteodysplasia, Anderson type' SubClassOf 'disorder of development or morphogenesis' 'familial osteodysplasia, Anderson type' SubClassOf 'syndromic disease' 'familial osteodysplasia, Anderson type' SubClassOf 'skeletal dysplasia' 'familial osteodysplasia, Anderson type' SubClassOf 'disorder of development or morphogenesis' 'familial osteodysplasia, Anderson type' SubClassOf 'syndromic disease' 'familial osteodysplasia, Anderson type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010807 autosomal recessive nonsyndromic hearing loss 2 'autosomal recessive nonsyndromic hearing loss 2' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 2' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0009816 autosomal recessive osteopetrosis 2 'autosomal recessive osteopetrosis 2' SubClassOf 'autosomal recessive osteopetrosis' 'autosomal recessive osteopetrosis 2' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0009815 autosomal recessive osteopetrosis 1 'autosomal recessive osteopetrosis 1' SubClassOf 'autosomal recessive osteopetrosis' 'autosomal recessive osteopetrosis 1' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0010808 fatal familial insomnia 'fatal familial insomnia' SubClassOf 'inherited neurodegenerative disorder' 'fatal familial insomnia' SubClassOf 'insomnia' 'fatal familial insomnia' SubClassOf 'prion disease' 'fatal familial insomnia' SubClassOf 'inherited neurodegenerative disorder' 'fatal familial insomnia' SubClassOf 'insomnia' 'fatal familial insomnia' SubClassOf 'prion disease' http://purl.obolibrary.org/obo/MONDO_0009814 osteopenia-intellectual disability-sparse hair syndrome 'osteopenia-intellectual disability-sparse hair syndrome' SubClassOf 'syndromic disease' 'osteopenia-intellectual disability-sparse hair syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009813 chronic recurrent multifocal osteomyelitis 'chronic recurrent multifocal osteomyelitis' SubClassOf 'osteomyelitis' 'chronic recurrent multifocal osteomyelitis' SubClassOf 'osteomyelitis' http://purl.obolibrary.org/obo/MONDO_0009810 autosomal recessive distal osteolysis syndrome 'autosomal recessive distal osteolysis syndrome' SubClassOf 'primary osteolysis' 'autosomal recessive distal osteolysis syndrome' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0010801 spondylocamptodactyly syndrome 'spondylocamptodactyly syndrome' SubClassOf 'spondylodysplastic dysplasia' 'spondylocamptodactyly syndrome' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0010803 Eiken syndrome 'Eiken syndrome' SubClassOf 'skeletal dysplasia' 'Eiken syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'syndromic disease' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010805 bladder exstrophy 'bladder exstrophy' SubClassOf 'exstrophy-epispadias complex' 'bladder exstrophy' SubClassOf 'exstrophy-epispadias complex' http://purl.obolibrary.org/obo/MONDO_0010818 retinitis pigmentosa 12 'retinitis pigmentosa 12' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 12' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0010817 autosomal dominant nonsyndromic hearing loss 2A 'autosomal dominant nonsyndromic hearing loss 2A' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 2A' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009825 5-oxoprolinase deficiency '5-oxoprolinase deficiency' SubClassOf 'inherited glutathione metabolism disease' '5-oxoprolinase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0009824 primary hyperoxaluria type 2 'primary hyperoxaluria type 2' SubClassOf 'primary hyperoxaluria' 'primary hyperoxaluria type 2' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0009823 primary hyperoxaluria type 1 'primary hyperoxaluria type 1' SubClassOf 'alanine glyoxylate aminotransferase deficiency' 'primary hyperoxaluria type 1' SubClassOf 'primary hyperoxaluria' 'primary hyperoxaluria type 1' SubClassOf 'alanine glyoxylate aminotransferase deficiency' 'primary hyperoxaluria type 1' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0009821 lethal osteosclerotic bone dysplasia 'lethal osteosclerotic bone dysplasia' SubClassOf 'neonatal osteosclerotic dysplasia' 'lethal osteosclerotic bone dysplasia' SubClassOf 'neonatal osteosclerotic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009820 osteoporosis-pseudoglioma syndrome 'osteoporosis-pseudoglioma syndrome' SubClassOf 'syndromic disease' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'congenital vitreoretinal dysplasia' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'autosomal recessive disease' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'LRP5-related exudative vitreoretinopathy' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'syndromic disease' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'congenital vitreoretinal dysplasia' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'autosomal recessive disease' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'LRP5-related exudative vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_0010814 chondrodysplasia-pseudohermaphroditism syndrome 'chondrodysplasia-pseudohermaphroditism syndrome' SubClassOf 'syndromic disease' 'chondrodysplasia-pseudohermaphroditism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010813 pancreatic beta cell agenesis with neonatal diabetes mellitus 'pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'genetic disorder' 'pancreatic beta cell agenesis with neonatal diabetes mellitus' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010816 Qazi Markouizos syndrome 'Qazi Markouizos syndrome' SubClassOf 'syndromic disease' 'Qazi Markouizos syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009839 progressive supranuclear palsy-parkinsonism syndrome 'progressive supranuclear palsy-parkinsonism syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' 'progressive supranuclear palsy-parkinsonism syndrome' SubClassOf 'atypical progressive supranuclear palsy syndrome' http://purl.obolibrary.org/obo/MONDO_0009838 Parana hard-skin syndrome 'Parana hard-skin syndrome' SubClassOf 'syndromic disease' 'Parana hard-skin syndrome' SubClassOf 'skin disease' 'Parana hard-skin syndrome' SubClassOf 'syndromic disease' 'Parana hard-skin syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0009837 choroid plexus papilloma 'choroid plexus papilloma' SubClassOf 'papilloma' 'choroid plexus papilloma' SubClassOf 'benign choroid plexus neoplasm' 'choroid plexus papilloma' SubClassOf 'papilloma' 'choroid plexus papilloma' SubClassOf 'benign choroid plexus neoplasm' http://purl.obolibrary.org/obo/MONDO_0009833 Shwachman-Diamond syndrome 'Shwachman-Diamond syndrome' SubClassOf 'autosomal recessive disease' 'Shwachman-Diamond syndrome' SubClassOf 'syndromic disease' 'Shwachman-Diamond syndrome' SubClassOf 'autosomal recessive disease' 'Shwachman-Diamond syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009832 pancreatic agenesis 'pancreatic agenesis' SubClassOf 'disorder of development or morphogenesis' 'pancreatic agenesis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009830 parkinsonian-pyramidal syndrome 'parkinsonian-pyramidal syndrome' SubClassOf 'Parkinson disease' 'parkinsonian-pyramidal syndrome' SubClassOf 'predisposes towards' some 'young-onset Parkinson disease' 'parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'young-onset Parkinson disease' 'parkinsonian-pyramidal syndrome' SubClassOf 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0010823 rhizomelic chondrodysplasia punctata type 3 'rhizomelic chondrodysplasia punctata type 3' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 3' SubClassOf 'alkylglycerone-phosphate synthase deficiency' 'rhizomelic chondrodysplasia punctata type 3' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 3' SubClassOf 'alkylglycerone-phosphate synthase deficiency' http://purl.obolibrary.org/obo/MONDO_0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'heart disease' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'syndromic disease' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'disorder of visual system' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'heart disease' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'syndromic disease' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0010826 childhood absence epilepsy 'childhood absence epilepsy' SubClassOf 'childhood electroclinical syndrome' 'childhood absence epilepsy' SubClassOf 'absence epilepsy' 'childhood absence epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'childhood absence epilepsy' SubClassOf 'childhood electroclinical syndrome' 'childhood absence epilepsy' SubClassOf 'absence epilepsy' 'childhood absence epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 'neuronopathy, distal hereditary motor, autosomal dominant 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'neuronopathy, distal hereditary motor, autosomal dominant 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0009849 hyperimmunoglobulinemia D with periodic fever 'hyperimmunoglobulinemia D with periodic fever' SubClassOf 'immune system disease' 'hyperimmunoglobulinemia D with periodic fever' SubClassOf 'mevalonate kinase deficiency' 'hyperimmunoglobulinemia D with periodic fever' SubClassOf 'immune system disease' 'hyperimmunoglobulinemia D with periodic fever' SubClassOf 'mevalonate kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0009846 pentosuria 'pentosuria' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'pentosuria' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0009845 pelviscapular dysplasia 'pelviscapular dysplasia' SubClassOf 'non-syndromic limb reduction defect' 'pelviscapular dysplasia' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0009844 pellagra-like syndrome 'pellagra-like syndrome' SubClassOf 'genetic disorder' 'pellagra-like syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009843 hypomyelinating leukodystrophy 3 'hypomyelinating leukodystrophy 3' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'hypomyelinating leukodystrophy 3' SubClassOf 'Pelizaeus-Merzbacher-like disease' http://www.ebi.ac.uk/efo/EFO_1001501 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' 'pulmonary fibrosis and/or bone marrow failure, telomere-related, 1' SubClassOf 'pulmonary fibrosis and/or bone marrow failure, telomere-related' http://purl.obolibrary.org/obo/MONDO_0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain 'Pelger-Huet-like anomaly and episodic fever with abdominal pain' SubClassOf 'autoinflammatory syndrome' 'Pelger-Huet-like anomaly and episodic fever with abdominal pain' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0010831 familial caudal dysgenesis 'familial caudal dysgenesis' SubClassOf 'caudal regression-sirenomelia spectrum' 'familial caudal dysgenesis' SubClassOf 'caudal regression-sirenomelia spectrum' http://purl.obolibrary.org/obo/MONDO_0009841 PEHO syndrome 'PEHO syndrome' SubClassOf 'syndromic disease' 'PEHO syndrome' SubClassOf 'inherited neurodegenerative disorder' 'PEHO syndrome' SubClassOf 'syndromic disease' 'PEHO syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0010835 pterygium colli-intellectual disability-digital anomalies syndrome 'pterygium colli-intellectual disability-digital anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'pterygium colli-intellectual disability-digital anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010838 gonadal agenesis 'gonadal agenesis' SubClassOf 'genetic disorder' 'gonadal agenesis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001506 primary angle closure glaucoma 'primary angle closure glaucoma' SubClassOf 'angle-closure glaucoma' 'primary angle closure glaucoma' SubClassOf 'angle-closure glaucoma' http://purl.obolibrary.org/obo/MONDO_0010830 neuronal ceroid lipofuscinosis 8 'neuronal ceroid lipofuscinosis 8' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 8' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 8' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 8' SubClassOf 'juvenile neuronal ceroid lipofuscinosis' http://www.ebi.ac.uk/efo/EFO_1001502 rasopathy 'rasopathy' SubClassOf 'genetic disorder' 'rasopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009859 PHAVER syndrome 'PHAVER syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PHAVER syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009858 Pfeiffer-Palm-Teller syndrome 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pfeiffer-Palm-Teller syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009857 persistent Mullerian duct syndrome 'persistent Mullerian duct syndrome' SubClassOf 'pseudohermaphroditism' 'persistent Mullerian duct syndrome' SubClassOf 'pseudohermaphroditism' http://purl.obolibrary.org/obo/MONDO_0009856 Peters plus syndrome 'Peters plus syndrome' SubClassOf 'syndromic disease' 'Peters plus syndrome' SubClassOf 'disorder of fucoglycosan synthesis' 'Peters plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Peters plus syndrome' SubClassOf 'eye disease' 'Peters plus syndrome' SubClassOf 'syndromic disease' 'Peters plus syndrome' SubClassOf 'disorder of fucoglycosan synthesis' 'Peters plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Peters plus syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009855 d-bifunctional protein deficiency 'd-bifunctional protein deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' 'd-bifunctional protein deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' http://www.ebi.ac.uk/efo/EFO_1001512 endometrial carcinoma 'endometrial carcinoma' SubClassOf 'endometrial cancer' 'endometrial carcinoma' SubClassOf 'endometrial cancer' http://purl.obolibrary.org/obo/MONDO_0009853 Imerslund-Grasbeck syndrome 'Imerslund-Grasbeck syndrome' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'Imerslund-Grasbeck syndrome' SubClassOf 'megaloblastic anemia' 'Imerslund-Grasbeck syndrome' SubClassOf 'syndromic disease' 'Imerslund-Grasbeck syndrome' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'Imerslund-Grasbeck syndrome' SubClassOf 'megaloblastic anemia' 'Imerslund-Grasbeck syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010842 multiple cutaneous and mucosal venous malformations 'multiple cutaneous and mucosal venous malformations' SubClassOf 'vascular disease' 'multiple cutaneous and mucosal venous malformations' SubClassOf 'autosomal dominant disease' 'multiple cutaneous and mucosal venous malformations' SubClassOf 'vascular disease' 'multiple cutaneous and mucosal venous malformations' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0009852 hereditary intrinsic factor deficiency 'hereditary intrinsic factor deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'hereditary intrinsic factor deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'hereditary intrinsic factor deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'hereditary intrinsic factor deficiency' SubClassOf 'inborn vitamin B12 deficiency' http://www.ebi.ac.uk/efo/EFO_1001510 specific language impairment 'specific language impairment' SubClassOf 'language disorder' 'specific language impairment' SubClassOf 'language disorder' http://purl.obolibrary.org/obo/MONDO_0010847 spinocerebellar ataxia type 4 'spinocerebellar ataxia type 4' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'spinocerebellar ataxia type 4' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0010848 spinocerebellar ataxia type 5 'spinocerebellar ataxia type 5' SubClassOf 'autosomal dominant cerebellar ataxia type III' 'spinocerebellar ataxia type 5' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://www.ebi.ac.uk/efo/EFO_1001518 heavy metal poisoning 'heavy metal poisoning' SubClassOf 'poisoning' 'heavy metal poisoning' SubClassOf 'poisoning' http://www.ebi.ac.uk/efo/EFO_1001517 renal fibrosis 'renal fibrosis' SubClassOf 'glomerulosclerosis' 'renal fibrosis' SubClassOf 'glomerulosclerosis' http://purl.obolibrary.org/obo/MONDO_0010840 pachygyria-intellectual disability-epilepsy syndrome 'pachygyria-intellectual disability-epilepsy syndrome' SubClassOf 'nervous system disease' 'pachygyria-intellectual disability-epilepsy syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0009869 isolated Pierre-Robin syndrome 'isolated Pierre-Robin syndrome' SubClassOf 'eye disease' 'isolated Pierre-Robin syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009868 glycogen storage disease IXb 'glycogen storage disease IXb' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease IXb' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart 'lethal congenital glycogen storage disease of heart' SubClassOf 'PRKAG2-related cardiomyopathy' 'lethal congenital glycogen storage disease of heart' SubClassOf 'disorder of glycogen metabolism' 'lethal congenital glycogen storage disease of heart' SubClassOf 'PRKAG2-related cardiomyopathy' 'lethal congenital glycogen storage disease of heart' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009866 phosphoenolpyruvate carboxykinase deficiency, cytosolic 'phosphoenolpyruvate carboxykinase deficiency, cytosolic' SubClassOf 'phosphoenolpyruvate carboxykinase deficiency' 'phosphoenolpyruvate carboxykinase deficiency, cytosolic' SubClassOf 'phosphoenolpyruvate carboxykinase deficiency' http://purl.obolibrary.org/obo/MONDO_0009865 glycogen storage disease due to phosphoglycerate mutase deficiency 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disorder of glycolysis' 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disorder of glycolysis' 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0010854 Toriello-Lacassie-Droste syndrome 'Toriello-Lacassie-Droste syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Toriello-Lacassie-Droste syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial 'phosphoenolpyruvate carboxykinase deficiency, mitochondrial' SubClassOf 'phosphoenolpyruvate carboxykinase deficiency' 'phosphoenolpyruvate carboxykinase deficiency, mitochondrial' SubClassOf 'phosphoenolpyruvate carboxykinase deficiency' http://purl.obolibrary.org/obo/MONDO_0010853 Helicobacter pylori infection, susceptibility to 'Helicobacter pylori infection, susceptibility to' SubClassOf 'predisposes towards' some 'Helicobacter pylori infectious disease' 'Helicobacter pylori infection, susceptibility to' SubClassOf 'inherited disease susceptibility' 'Helicobacter pylori infection, susceptibility to' SubClassOf 'inherited disease susceptibility' 'Helicobacter pylori infection, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Helicobacter pylori infectious disease' http://purl.obolibrary.org/obo/MONDO_0009863 BH4-deficient hyperphenylalaninemia A 'BH4-deficient hyperphenylalaninemia A' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' 'BH4-deficient hyperphenylalaninemia A' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' http://purl.obolibrary.org/obo/MONDO_0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'partial deletion of the short arm of chromosome 16' 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'familial cystic renal disease' 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'partial deletion of the short arm of chromosome 16' 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0009862 dihydropteridine reductase deficiency 'dihydropteridine reductase deficiency' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' 'dihydropteridine reductase deficiency' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' http://purl.obolibrary.org/obo/MONDO_0010855 short tarsus-absence of lower eyelashes syndrome 'short tarsus-absence of lower eyelashes syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short tarsus-absence of lower eyelashes syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009861 phenylketonuria 'phenylketonuria' SubClassOf 'disorder of phenylalanine metabolism' 'phenylketonuria' SubClassOf 'autosomal recessive disease' 'phenylketonuria' SubClassOf 'disorder of phenylalanine metabolism' 'phenylketonuria' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'hereditary spastic paraplegia' 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'hereditary spastic paraplegia' 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010851 Lowry-MacLean syndrome 'Lowry-MacLean syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lowry-MacLean syndrome' SubClassOf 'syndromic craniosynostosis' 'Lowry-MacLean syndrome' SubClassOf 'eye disease' 'Lowry-MacLean syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lowry-MacLean syndrome' SubClassOf 'syndromic craniosynostosis' 'Lowry-MacLean syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009879 short stature due to growth hormone qualitative anomaly 'short stature due to growth hormone qualitative anomaly' SubClassOf 'isolated congenital growth hormone deficiency' 'short stature due to growth hormone qualitative anomaly' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0009877 Laron syndrome 'Laron syndrome' SubClassOf 'autosomal recessive disease' 'Laron syndrome' SubClassOf 'growth hormone insensitivity syndrome' 'Laron syndrome' SubClassOf 'autosomal recessive disease' 'Laron syndrome' SubClassOf 'growth hormone insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0009876 isolated growth hormone deficiency type IA 'isolated growth hormone deficiency type IA' SubClassOf 'isolated congenital growth hormone deficiency' 'isolated growth hormone deficiency type IA' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0010865 pseudoaminopterin syndrome 'pseudoaminopterin syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'pseudoaminopterin syndrome' SubClassOf 'syndromic craniosynostosis' 'pseudoaminopterin syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'pseudoaminopterin syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome 'Rabson-Mendenhall syndrome' SubClassOf 'syndromic disease' 'Rabson-Mendenhall syndrome' SubClassOf 'hypertrichosis' 'Rabson-Mendenhall syndrome' SubClassOf 'syndromic disease' 'Rabson-Mendenhall syndrome' SubClassOf 'hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0010867 PARC syndrome 'PARC syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PARC syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009873 pilodental dysplasia-refractive errors syndrome 'pilodental dysplasia-refractive errors syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'pilodental dysplasia-refractive errors syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010866 infantile osteopetrosis with neuroaxonal dysplasia 'infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'osteopetrosis' 'infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0009872 Bjornstad syndrome 'Bjornstad syndrome' SubClassOf 'autosomal recessive disease' 'Bjornstad syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009871 pili torti-developmental delay-neurological abnormalities syndrome 'pili torti-developmental delay-neurological abnormalities syndrome' SubClassOf 'syndromic disease' 'pili torti-developmental delay-neurological abnormalities syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009870 pili torti 'pili torti' SubClassOf 'hair anomaly' 'pili torti' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease 'autosomal recessive polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' 'autosomal recessive polycystic kidney disease' SubClassOf 'autosomal recessive disease' 'autosomal recessive polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' 'autosomal recessive polycystic kidney disease' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010876 recessive aplasia cutis congenita of limbs 'recessive aplasia cutis congenita of limbs' SubClassOf 'mixed dermis disorder' 'recessive aplasia cutis congenita of limbs' SubClassOf 'mixed dermis disorder' http://purl.obolibrary.org/obo/MONDO_0009885 Scott syndrome 'Scott syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Scott syndrome' SubClassOf 'inherited blood coagulation disorder' 'Scott syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Scott syndrome' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0010878 hereditary spastic paraplegia 6 'hereditary spastic paraplegia 6' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 6' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010877 Charcot-Marie-Tooth disease type 5 'Charcot-Marie-Tooth disease type 5' SubClassOf 'motor peripheral neuropathy' 'Charcot-Marie-Tooth disease type 5' SubClassOf 'motor peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0009883 alpha-2-plasmin inhibitor deficiency 'alpha-2-plasmin inhibitor deficiency' SubClassOf 'coagulation protein disease' 'alpha-2-plasmin inhibitor deficiency' SubClassOf 'hemorrhagic disease' 'alpha-2-plasmin inhibitor deficiency' SubClassOf 'coagulation protein disease' 'alpha-2-plasmin inhibitor deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0010879 CODAS syndrome 'CODAS syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'CODAS syndrome' SubClassOf 'syndromic disease' 'CODAS syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CODAS syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'CODAS syndrome' SubClassOf 'syndromic disease' 'CODAS syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009880 short stature-pituitary and cerebellar defects-small sella turcica syndrome 'short stature-pituitary and cerebellar defects-small sella turcica syndrome' SubClassOf 'combined pituitary hormone deficiencies, genetic form' 'short stature-pituitary and cerebellar defects-small sella turcica syndrome' SubClassOf 'combined pituitary hormone deficiencies, genetic form' http://purl.obolibrary.org/obo/MONDO_0010870 tibial muscular dystrophy 'tibial muscular dystrophy' SubClassOf 'autosomal dominant distal myopathy' 'tibial muscular dystrophy' SubClassOf 'autosomal dominant titinopathy' 'tibial muscular dystrophy' SubClassOf 'autosomal dominant distal myopathy' 'tibial muscular dystrophy' SubClassOf 'autosomal dominant titinopathy' http://purl.obolibrary.org/obo/MONDO_0019205 trichodysplasia-amelogenesis imperfecta syndrome 'trichodysplasia-amelogenesis imperfecta syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'trichodysplasia-amelogenesis imperfecta syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0019202 myxofibrosarcoma 'myxofibrosarcoma' SubClassOf 'soft tissue sarcoma' 'myxofibrosarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa 'retinitis pigmentosa' SubClassOf 'inborn disorder of amino acid transport' 'retinitis pigmentosa' SubClassOf 'inherited retinal dystrophy' 'retinitis pigmentosa' SubClassOf 'inborn disorder of amino acid transport' 'retinitis pigmentosa' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020213 stromal corneal dystrophy 'stromal corneal dystrophy' SubClassOf 'corneal dystrophy' 'stromal corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010887 isolated anterior cervical hypertrichosis 'isolated anterior cervical hypertrichosis' SubClassOf 'hypertrichosis' 'isolated anterior cervical hypertrichosis' SubClassOf 'hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0020212 superficial corneal dystrophy 'superficial corneal dystrophy' SubClassOf 'corneal dystrophy' 'superficial corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009897 adult polyglucosan body disease 'adult polyglucosan body disease' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'adult polyglucosan body disease' SubClassOf 'hereditary peripheral neuropathy' 'adult polyglucosan body disease' SubClassOf 'glycogen storage disease due to glycogen branching enzyme deficiency' 'adult polyglucosan body disease' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0010886 2q37 microdeletion syndrome '2q37 microdeletion syndrome' SubClassOf 'skeletal dysplasia' '2q37 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' '2q37 microdeletion syndrome' SubClassOf 'skeletal dysplasia' '2q37 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0009895 postaxial polydactyly-dental and vertebral anomalies syndrome 'postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010888 adenomyosis 'adenomyosis' SubClassOf 'endometrial disorder' 'adenomyosis' SubClassOf 'endometrial disorder' http://purl.obolibrary.org/obo/MONDO_0009894 short-rib thoracic dysplasia 6 with or without polydactyly 'short-rib thoracic dysplasia 6 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 6 with or without polydactyly' SubClassOf 'short rib-polydactyly syndrome, Majewski type' 'short-rib thoracic dysplasia 6 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 6 with or without polydactyly' SubClassOf 'short rib-polydactyly syndrome, Majewski type' http://purl.obolibrary.org/obo/MONDO_0009892 Chuvash polycythemia 'Chuvash polycythemia' SubClassOf 'congenital secondary polycythemia' 'Chuvash polycythemia' SubClassOf 'familial polycythemia' 'Chuvash polycythemia' SubClassOf 'congenital secondary polycythemia' 'Chuvash polycythemia' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0010881 mesomelia-synostoses syndrome 'mesomelia-synostoses syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' 'mesomelia-synostoses syndrome' SubClassOf 'osteochondrodysplasia' 'mesomelia-synostoses syndrome' SubClassOf 'skeletal dysplasia' 'mesomelia-synostoses syndrome' SubClassOf 'partial deletion of the long arm of chromosome 8' 'mesomelia-synostoses syndrome' SubClassOf 'osteochondrodysplasia' 'mesomelia-synostoses syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid transport 'inborn disorder of amino acid transport' SubClassOf 'inborn disorder of amino acid metabolism' 'inborn disorder of amino acid transport' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019219 inborn disorder of neurotransmitter metabolism and transport 'inborn disorder of neurotransmitter metabolism and transport' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' 'inborn disorder of neurotransmitter metabolism and transport' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0010885 angiokeratoma corporis diffusum with arteriovenous fistulas 'angiokeratoma corporis diffusum with arteriovenous fistulas' SubClassOf 'genetic disorder' 'angiokeratoma corporis diffusum with arteriovenous fistulas' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020214 posterior corneal dystrophy 'posterior corneal dystrophy' SubClassOf 'corneal dystrophy' 'posterior corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0019218 inborn disorder of bile acid synthesis 'inborn disorder of bile acid synthesis' SubClassOf 'sterol metabolism disorder' 'inborn disorder of bile acid synthesis' SubClassOf 'sterol metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0019212 disseminated superficial actinic porokeratosis 'disseminated superficial actinic porokeratosis' SubClassOf 'porokeratosis' 'disseminated superficial actinic porokeratosis' SubClassOf 'porokeratosis' http://purl.obolibrary.org/obo/MONDO_0019215 classic organic aciduria 'classic organic aciduria' SubClassOf 'inborn organic aciduria' 'classic organic aciduria' SubClassOf 'inborn organic aciduria' http://purl.obolibrary.org/obo/MONDO_0019214 inborn carbohydrate metabolic disorder 'inborn carbohydrate metabolic disorder' SubClassOf 'inborn errors of metabolism' 'inborn carbohydrate metabolic disorder' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019211 isolated congenital anonychia 'isolated congenital anonychia' SubClassOf 'inherited isolated nail anomaly' 'isolated congenital anonychia' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0010898 autosomal dominant epilepsy with auditory features 'autosomal dominant epilepsy with auditory features' SubClassOf 'temporal lobe epilepsy' 'autosomal dominant epilepsy with auditory features' SubClassOf 'temporal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0010890 acrocardiofacial syndrome 'acrocardiofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'acrocardiofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010891 lethal hemolytic anemia-genital anomalies syndrome 'lethal hemolytic anemia-genital anomalies syndrome' SubClassOf 'syndromic disease' 'lethal hemolytic anemia-genital anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019228 inborn disorder of histidine metabolism 'inborn disorder of histidine metabolism' SubClassOf 'inborn disorder of amino acid metabolism' 'inborn disorder of histidine metabolism' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0010894 maturity-onset diabetes of the young type 3 'maturity-onset diabetes of the young type 3' SubClassOf 'maturity-onset diabetes of the young' 'maturity-onset diabetes of the young type 3' SubClassOf 'maturity-onset diabetes of the young' http://purl.obolibrary.org/obo/MONDO_0020204 conjunctival tumor 'conjunctival tumor' SubClassOf 'Conjunctival Disorder' 'conjunctival tumor' SubClassOf 'eye neoplasm' 'conjunctival tumor' SubClassOf 'Conjunctival Disorder' 'conjunctival tumor' SubClassOf 'eye neoplasm' http://purl.obolibrary.org/obo/MONDO_0010896 pigment dispersion syndrome 'pigment dispersion syndrome' SubClassOf 'genetic disorder' 'pigment dispersion syndrome' SubClassOf 'eye disease' 'pigment dispersion syndrome' SubClassOf 'genetic disorder' 'pigment dispersion syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0019229 inborn disorder of ketolysis 'inborn disorder of ketolysis' SubClassOf 'disorder of fatty acid and ketone body metabolism' 'inborn disorder of ketolysis' SubClassOf 'disorder of fatty acid and ketone body metabolism' http://purl.obolibrary.org/obo/MONDO_0010895 ABCD syndrome 'ABCD syndrome' SubClassOf 'autosomal recessive disease' 'ABCD syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0019223 disorder of fatty acid and ketone body metabolism 'disorder of fatty acid and ketone body metabolism' SubClassOf 'inborn disorder of energy metabolism' 'disorder of fatty acid and ketone body metabolism' SubClassOf 'inborn disorder of energy metabolism' http://purl.obolibrary.org/obo/MONDO_0019226 glucose transport disorder 'glucose transport disorder' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'glucose transport disorder' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0019225 disorder of gluconeogenesis 'disorder of gluconeogenesis' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorder of gluconeogenesis' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0019220 inborn disorder of cobalamin metabolism and transport 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism 'inborn disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019240 sterol biosynthesis disorder 'sterol biosynthesis disorder' SubClassOf 'developmental anomaly of metabolic origin' 'sterol biosynthesis disorder' SubClassOf 'sterol metabolism disorder' 'sterol biosynthesis disorder' SubClassOf 'developmental anomaly of metabolic origin' 'sterol biosynthesis disorder' SubClassOf 'sterol metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0019239 inborn disorder of serine family metabolism 'inborn disorder of serine family metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of serine family metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019238 inborn disorder of pyrimidine metabolism 'inborn disorder of pyrimidine metabolism' SubClassOf 'inborn disorder of purine or pyrimidine metabolism' 'inborn disorder of pyrimidine metabolism' SubClassOf 'inborn disorder of purine or pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanine and tyrosine metabolism 'inborn disorder of phenylalanine and tyrosine metabolism' SubClassOf 'inborn disorder of amino acid metabolism' 'inborn disorder of phenylalanine and tyrosine metabolism' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder 'peroxisome biogenesis disorder' SubClassOf 'leukodystrophy' 'peroxisome biogenesis disorder' SubClassOf 'peroxisomal disease' 'peroxisome biogenesis disorder' SubClassOf 'hereditary peripheral neuropathy' 'peroxisome biogenesis disorder' SubClassOf 'syndromic disease' 'peroxisome biogenesis disorder' SubClassOf 'leukodystrophy' 'peroxisome biogenesis disorder' SubClassOf 'peroxisomal disease' 'peroxisome biogenesis disorder' SubClassOf 'hereditary peripheral neuropathy' 'peroxisome biogenesis disorder' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019237 inborn disorder of pyridoxine metabolism 'inborn disorder of pyridoxine metabolism' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' 'inborn disorder of pyridoxine metabolism' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0019236 inborn disorder of purine metabolism 'inborn disorder of purine metabolism' SubClassOf 'inborn disorder of purine or pyrimidine metabolism' 'inborn disorder of purine metabolism' SubClassOf 'inborn disorder of purine or pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0019231 inborn disorder of pentose phosphate metabolism 'inborn disorder of pentose phosphate metabolism' SubClassOf 'disorders of pentose/polyol metabolism' 'inborn disorder of pentose phosphate metabolism' SubClassOf 'disorders of pentose/polyol metabolism' http://purl.obolibrary.org/obo/MONDO_0019230 inborn disorder of ornithine or proline metabolism 'inborn disorder of ornithine or proline metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of ornithine or proline metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019233 disorder of peroxisomal beta oxidation 'disorder of peroxisomal beta oxidation' SubClassOf 'peroxisomal single enzyme/protein defect' 'disorder of peroxisomal beta oxidation' SubClassOf 'peroxisomal single enzyme/protein defect' http://purl.obolibrary.org/obo/MONDO_0019232 inborn disorder of peptide metabolism 'inborn disorder of peptide metabolism' SubClassOf 'disorder of peptide and amine metabolism' 'inborn disorder of peptide metabolism' SubClassOf 'disorder of peptide and amine metabolism' http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis 'oligosaccharidosis' SubClassOf 'developmental anomaly of metabolic origin' 'oligosaccharidosis' SubClassOf 'glycoproteinosis' 'oligosaccharidosis' SubClassOf 'developmental anomaly of metabolic origin' 'oligosaccharidosis' SubClassOf 'glycoproteinosis' http://purl.obolibrary.org/obo/MONDO_0019250 inborn disorder of biogenic amine metabolism and transport 'inborn disorder of biogenic amine metabolism and transport' SubClassOf 'inborn errors of metabolism' 'inborn disorder of biogenic amine metabolism and transport' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019249 mucopolysaccharidosis 'mucopolysaccharidosis' SubClassOf 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' 'mucopolysaccharidosis' SubClassOf 'lysosomal storage disease' 'mucopolysaccharidosis' SubClassOf 'inborn carbohydrate metabolic disorder' 'mucopolysaccharidosis' SubClassOf 'developmental anomaly of metabolic origin' 'mucopolysaccharidosis' SubClassOf 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' 'mucopolysaccharidosis' SubClassOf 'lysosomal storage disease' 'mucopolysaccharidosis' SubClassOf 'inborn carbohydrate metabolic disorder' 'mucopolysaccharidosis' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0019246 inborn disorder of lysosomal amino acid transport 'inborn disorder of lysosomal amino acid transport' SubClassOf 'lysosomal storage disease' 'inborn disorder of lysosomal amino acid transport' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder 'lysosomal lipid storage disorder' SubClassOf 'lysosomal storage disease' 'lysosomal lipid storage disorder' SubClassOf 'inherited lipid metabolism disorder' 'lysosomal lipid storage disorder' SubClassOf 'disease disrupts' some 'lipid catabolic process' 'lysosomal lipid storage disorder' SubClassOf 'lysosomal storage disease' 'lysosomal lipid storage disorder' SubClassOf 'inherited lipid metabolism disorder' 'lysosomal lipid storage disorder' SubClassOf 'disease disrupts' some 'lipid catabolic process' http://purl.obolibrary.org/obo/MONDO_0019248 mucolipidosis 'mucolipidosis' SubClassOf 'glycoproteinosis' 'mucolipidosis' SubClassOf 'developmental anomaly of metabolic origin' 'mucolipidosis' SubClassOf 'developmental anomaly of metabolic origin' 'mucolipidosis' SubClassOf 'glycoproteinosis' http://purl.obolibrary.org/obo/MONDO_0019242 inborn disorder of branched-chain amino acid metabolism 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inborn disorder of amino acid metabolism' 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019241 inborn disorder of the gamma-glutamyl cycle 'inborn disorder of the gamma-glutamyl cycle' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of the gamma-glutamyl cycle' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019243 inborn disorder of energy metabolism 'inborn disorder of energy metabolism' SubClassOf 'inborn errors of metabolism' 'inborn disorder of energy metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019260 adult neuronal ceroid lipofuscinosis 'adult neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'adult neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'adult neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'adult neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' http://purl.obolibrary.org/obo/MONDO_0019262 juvenile neuronal ceroid lipofuscinosis 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0019261 infantile neuronal ceroid lipofuscinosis 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'cerebral lipidosis with dementia' http://purl.obolibrary.org/obo/MONDO_0020257 supranuclear oculomotor palsy 'supranuclear oculomotor palsy' SubClassOf 'oculomotor nerve paralysis' 'supranuclear oculomotor palsy' SubClassOf 'oculomotor nerve paralysis' http://purl.obolibrary.org/obo/MONDO_8000011 visceral neuropathy, familial, 1, autosomal recessive 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'neuronal intestinal dysplasia' 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'visceral neuropathy, familial' 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'chronic intestinal pseudoobstruction' 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'neuronal intestinal dysplasia' 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'visceral neuropathy, familial' 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'chronic intestinal pseudoobstruction' http://purl.obolibrary.org/obo/MONDO_0020252 essential strabismus 'essential strabismus' SubClassOf 'eye disease' 'essential strabismus' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0020250 autosomal dominant optic atrophy 'autosomal dominant optic atrophy' SubClassOf 'autosomal dominant disease' 'autosomal dominant optic atrophy' SubClassOf 'hereditary optic atrophy' 'autosomal dominant optic atrophy' SubClassOf 'hereditary optic neuropathy' 'autosomal dominant optic atrophy' SubClassOf 'autosomal dominant disease' 'autosomal dominant optic atrophy' SubClassOf 'hereditary optic neuropathy' 'autosomal dominant optic atrophy' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1' SubClassOf 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset' 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1' SubClassOf 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset' http://purl.obolibrary.org/obo/MONDO_0019257 hemochromatosis type 2 'hemochromatosis type 2' SubClassOf 'hereditary hemochromatosis' 'hemochromatosis type 2' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0019256 sterol metabolism disorder 'sterol metabolism disorder' SubClassOf 'inherited lipid metabolism disorder' 'sterol metabolism disorder' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0019259 classic phenylketonuria 'classic phenylketonuria' SubClassOf 'phenylketonuria' 'classic phenylketonuria' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0019258 mild phenylketonuria 'mild phenylketonuria' SubClassOf 'phenylketonuria' 'mild phenylketonuria' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0019253 metabolic disease involving other neurotransmitter deficiency 'metabolic disease involving other neurotransmitter deficiency' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' 'metabolic disease involving other neurotransmitter deficiency' SubClassOf 'inborn disorder of biogenic amine metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0019255 sphingolipidosis 'sphingolipidosis' SubClassOf 'lysosomal lipid storage disorder' 'sphingolipidosis' SubClassOf 'lysosomal lipid storage disorder' http://purl.obolibrary.org/obo/MONDO_0019254 inborn disorder of purine or pyrimidine metabolism 'inborn disorder of purine or pyrimidine metabolism' SubClassOf 'inborn errors of metabolism' 'inborn disorder of purine or pyrimidine metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019270 erythrokeratoderma 'erythrokeratoderma' SubClassOf 'epidermal disease' 'erythrokeratoderma' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0019272 hereditary palmoplantar keratoderma 'hereditary palmoplantar keratoderma' SubClassOf 'epidermal disease' 'hereditary palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' 'hereditary palmoplantar keratoderma' SubClassOf 'epidermal disease' 'hereditary palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and ('disease has major feature' some 'Vitreoretinopathy') 'inherited vitreoretinopathy' SubClassOf 'disease has major feature' some 'Vitreoretinopathy' 'inherited vitreoretinopathy' SubClassOf 'retinopathy' 'inherited vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Vitreoretinopathy' 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Vitreoretinopathy') 'inherited vitreoretinopathy' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_8000004 salmonella discitis 'salmonella discitis' SubClassOf 'discitis' 'salmonella discitis' SubClassOf 'discitis' http://purl.obolibrary.org/obo/MONDO_8000003 streptococcus pneumoniae discitis 'streptococcus pneumoniae discitis' SubClassOf 'discitis' 'streptococcus pneumoniae discitis' SubClassOf 'discitis' http://purl.obolibrary.org/obo/MONDO_8000005 fungal discitis 'fungal discitis' SubClassOf 'discitis' 'fungal discitis' SubClassOf 'discitis' http://purl.obolibrary.org/obo/MONDO_0020242 hereditary macular dystrophy 'hereditary macular dystrophy' SubClassOf 'inherited retinal dystrophy' 'hereditary macular dystrophy' SubClassOf 'disease has major feature' some 'Macular dystrophy' 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and ('disease has major feature' some 'Macular dystrophy') 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Macular dystrophy') 'hereditary macular dystrophy' SubClassOf 'inherited retinal dystrophy' 'hereditary macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Macular dystrophy' http://purl.obolibrary.org/obo/MONDO_8000002 escherichia coli discitis 'escherichia coli discitis' SubClassOf 'discitis' 'escherichia coli discitis' SubClassOf 'discitis' http://purl.obolibrary.org/obo/MONDO_8000001 staphylococcus discitis 'staphylococcus discitis' SubClassOf 'discitis' 'staphylococcus discitis' SubClassOf 'discitis' http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy 'hereditary optic neuropathy' SubClassOf 'eye disease' 'hereditary optic neuropathy' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0020248 vitreoretinal degeneration 'vitreoretinal degeneration' SubClassOf 'inherited vitreoretinopathy' 'vitreoretinal degeneration' SubClassOf 'inherited vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_0020247 congenital vitreoretinal dysplasia 'congenital vitreoretinal dysplasia' SubClassOf 'inherited vitreoretinopathy' 'congenital vitreoretinal dysplasia' SubClassOf 'inherited vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease 'epidermal disease' SubClassOf 'skin disease' 'epidermal disease' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- 'vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' 'vitamin B12-unresponsive methylmalonic acidemia type mut-' SubClassOf 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' http://purl.obolibrary.org/obo/MONDO_0019269 ichthyosis 'ichthyosis' SubClassOf 'epidermal disease' 'ichthyosis' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0019264 alpha-N-acetylgalactosaminidase deficiency type 3 'alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' 'alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria 'autosomal erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' 'autosomal erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' http://purl.obolibrary.org/obo/MONDO_0019265 diazoxide-resistant focal hyperinsulinism 'diazoxide-resistant focal hyperinsulinism' SubClassOf 'diazoxide-resistant hyperinsulinism' 'diazoxide-resistant focal hyperinsulinism' SubClassOf 'diazoxide-resistant hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0019283 nail anomaly 'nail anomaly' SubClassOf 'nail disorder' 'nail anomaly' SubClassOf 'nail disorder' http://purl.obolibrary.org/obo/MONDO_0019280 hypertrichosis 'hypertrichosis' SubClassOf 'disorder of pilosebaceous unit' 'hypertrichosis' SubClassOf 'disorder of pilosebaceous unit' http://purl.obolibrary.org/obo/MONDO_0044202 episodic kinesigenic dyskinesia 'episodic kinesigenic dyskinesia' SubClassOf 'paroxysmal dyskinesia' 'episodic kinesigenic dyskinesia' SubClassOf 'paroxysmal dyskinesia' http://purl.obolibrary.org/obo/MONDO_0044201 T+ B+ severe combined immunodeficiency 'T+ B+ severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' 'T+ B+ severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0044203 foveal hypoplasia 'foveal hypoplasia' SubClassOf 'genetic disorder' 'foveal hypoplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044200 T-B+ severe combined immunodeficiency 'T-B+ severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency' SubClassOf 'severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0044206 otospondylomegaepiphyseal dysplasia, autosomal recessive 'otospondylomegaepiphyseal dysplasia, autosomal recessive' SubClassOf 'otospondylomegaepiphyseal dysplasia' 'otospondylomegaepiphyseal dysplasia, autosomal recessive' SubClassOf 'otospondylomegaepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019276 inherited epidermolysis bullosa 'inherited epidermolysis bullosa' SubClassOf 'epidermal disease' 'inherited epidermolysis bullosa' SubClassOf 'epidermolysis bullosa' 'inherited epidermolysis bullosa' SubClassOf 'epidermolysis bullosa' 'inherited epidermolysis bullosa' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease 'skin vascular disease' SubClassOf 'skin disease' 'skin vascular disease' SubClassOf 'vascular disease' 'skin vascular disease' SubClassOf 'skin disease' 'skin vascular disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0019294 mixed dermis disorder 'mixed dermis disorder' SubClassOf 'dermis disorder' 'mixed dermis disorder' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0019290 hypopigmentation of the skin 'hypopigmentation of the skin' SubClassOf 'skin pigmentation disorder' 'hypopigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hypopigmentation of the skin') 'hypopigmentation of the skin' SubClassOf 'disease has major feature' some 'Hypopigmentation of the skin' 'hypopigmentation of the skin' SubClassOf 'skin pigmentation disorder' 'hypopigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypopigmentation of the skin' 'hypopigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypopigmentation of the skin') http://purl.obolibrary.org/obo/MONDO_0044212 chronic idiopathic urticaria 'chronic idiopathic urticaria' SubClassOf 'idiopathic urticaria' 'chronic idiopathic urticaria' SubClassOf 'idiopathic urticaria' http://purl.obolibrary.org/obo/MONDO_0044211 idiopathic urticaria 'idiopathic urticaria' SubClassOf 'urticaria' 'idiopathic urticaria' SubClassOf 'urticaria' http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin 'hyperpigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hyperpigmentation of the skin') 'hyperpigmentation of the skin' SubClassOf 'skin pigmentation disorder' 'hyperpigmentation of the skin' SubClassOf 'disease has major feature' some 'Hyperpigmentation of the skin' 'hyperpigmentation of the skin' SubClassOf 'skin pigmentation disorder' 'hyperpigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperpigmentation of the skin' 'hyperpigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperpigmentation of the skin') http://purl.obolibrary.org/obo/MONDO_0019288 skin pigmentation disorder 'skin pigmentation disorder' SubClassOf 'skin disease' 'skin pigmentation disorder' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome 'ectodermal dysplasia syndrome' SubClassOf 'syndromic disease' 'ectodermal dysplasia syndrome' SubClassOf 'disease_has_basis_in_development_of' some 'ectoderm' 'ectodermal dysplasia syndrome' SubClassOf 'hereditary epidermal appendage anomaly' 'ectodermal dysplasia syndrome' SubClassOf 'syndromic disease' 'ectodermal dysplasia syndrome' SubClassOf 'hereditary epidermal appendage anomaly' 'ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_basis_in_development_of some 'ectoderm' http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries 'congenital anomaly of the great arteries' SubClassOf 'congenital heart malformation' 'congenital anomaly of the great arteries' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020290 familial atrioventricular septal defect 'familial atrioventricular septal defect' SubClassOf 'heart septal defect' 'familial atrioventricular septal defect' SubClassOf 'heart septal defect' http://purl.obolibrary.org/obo/MONDO_0020298 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'uniparental disomy' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0020297 Noonan syndrome and Noonan-related syndrome 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'rasopathy' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'disorder of development or morphogenesis' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'rasopathy' 'Noonan syndrome and Noonan-related syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0020295 congenital pulmonary veins anomaly 'congenital pulmonary veins anomaly' SubClassOf 'congenital heart disease' 'congenital pulmonary veins anomaly' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0019297 lymphedema 'lymphedema' SubClassOf 'lymphatic system disease' 'lymphedema' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/MONDO_0020289 congenital tricuspid malformation 'congenital tricuspid malformation' SubClassOf 'disease has major feature' some 'Abnormal tricuspid valve morphology' 'congenital tricuspid malformation' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormal tricuspid valve morphology') 'congenital tricuspid malformation' SubClassOf 'disorder of development or morphogenesis' 'congenital tricuspid malformation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal tricuspid valve morphology' 'congenital tricuspid malformation' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal tricuspid valve morphology') 'congenital tricuspid malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency 'hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'metabolic myopathy' 'hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'metabolic myopathy' http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency 'carnitine palmitoyl transferase 1A deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'carnitine palmitoyl transferase 1A deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' http://purl.obolibrary.org/obo/MONDO_0009704 carnitine palmitoyl transferase II deficiency, myopathic form 'carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'carnitine palmitoyltransferase II deficiency' 'carnitine palmitoyl transferase II deficiency, myopathic form' SubClassOf 'carnitine palmitoyltransferase II deficiency' http://purl.obolibrary.org/obo/MONDO_0009703 myopathy with abnormal lipid metabolism 'myopathy with abnormal lipid metabolism' SubClassOf 'myopathy' 'myopathy with abnormal lipid metabolism' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0009709 myopathy, centronuclear, 2 'myopathy, centronuclear, 2' SubClassOf 'autosomal recessive centronuclear myopathy' 'myopathy, centronuclear, 2' SubClassOf 'autosomal recessive centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0009719 familial atrial myxoma 'familial atrial myxoma' SubClassOf 'Heart neoplasm' 'familial atrial myxoma' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0010708 Pallister-W syndrome 'Pallister-W syndrome' SubClassOf 'syndromic disease' 'Pallister-W syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome 'Schwartz-Jampel syndrome' SubClassOf 'autosomal recessive disease' 'Schwartz-Jampel syndrome' SubClassOf 'qualitative or quantitative defects of perlecan' 'Schwartz-Jampel syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Schwartz-Jampel syndrome' SubClassOf 'syndromic disease' 'Schwartz-Jampel syndrome' SubClassOf 'autosomal recessive disease' 'Schwartz-Jampel syndrome' SubClassOf 'qualitative or quantitative defects of perlecan' 'Schwartz-Jampel syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Schwartz-Jampel syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009716 Richieri Costa-da Silva syndrome 'Richieri Costa-da Silva syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Richieri Costa-da Silva syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-da Silva syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Richieri Costa-da Silva syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010709 early-onset parkinsonism-intellectual disability syndrome 'early-onset parkinsonism-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'early-onset parkinsonism-intellectual disability syndrome' SubClassOf 'parkinsonian disorder' 'early-onset parkinsonism-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'early-onset parkinsonism-intellectual disability syndrome' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0009715 myotonia congenita, autosomal recessive 'myotonia congenita, autosomal recessive' SubClassOf 'Thomsen and Becker disease' 'myotonia congenita, autosomal recessive' SubClassOf 'Thomsen and Becker disease' http://purl.obolibrary.org/obo/MONDO_0009714 myosclerosis 'myosclerosis' SubClassOf 'collagen 6-related myopathy' 'myosclerosis' SubClassOf 'collagen 6-related myopathy' http://purl.obolibrary.org/obo/MONDO_0009712 congenital multicore myopathy with external ophthalmoplegia 'congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'multiminicore myopathy' 'congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'RYR1-related myopathy' 'congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'multiminicore myopathy' 'congenital multicore myopathy with external ophthalmoplegia' SubClassOf 'RYR1-related myopathy' http://purl.obolibrary.org/obo/MONDO_0009711 congenital fiber-type disproportion myopathy 'congenital fiber-type disproportion myopathy' SubClassOf 'TPM3-related myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'RYR1-related myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'congenital structural myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'TPM2-related myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'TPM3-related myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'RYR1-related myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'congenital structural myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'TPM2-related myopathy' http://purl.obolibrary.org/obo/MONDO_0009710 Thomsen and Becker disease 'Thomsen and Becker disease' SubClassOf 'muscular channelopathy' 'Thomsen and Becker disease' SubClassOf 'muscular channelopathy' http://purl.obolibrary.org/obo/MONDO_0010702 orofaciodigital syndrome I 'orofaciodigital syndrome I' SubClassOf 'syndromic disease' 'orofaciodigital syndrome I' SubClassOf 'ciliopathy' 'orofaciodigital syndrome I' SubClassOf 'syndromic disease' 'orofaciodigital syndrome I' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0010704 otopalatodigital syndrome type 1 'otopalatodigital syndrome type 1' SubClassOf 'otopalatodigital syndrome' 'otopalatodigital syndrome type 1' SubClassOf 'syndromic disease' 'otopalatodigital syndrome type 1' SubClassOf 'otopalatodigital syndrome' 'otopalatodigital syndrome type 1' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0001642 lymphoid neoplasm 'lymphoid neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'lymphoid neoplasm' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0001645 coronary artery disease 'coronary artery disease' SubClassOf 'disease has location' some 'heart' 'coronary artery disease' SubClassOf 'arterial disorder' 'coronary artery disease' SubClassOf 'heart disease' 'coronary artery disease' SubClassOf 'disease has location' some 'heart' 'coronary artery disease' SubClassOf 'arterial disorder' 'coronary artery disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0010706 premature ovarian failure 1 'premature ovarian failure 1' SubClassOf 'inherited primary ovarian failure' 'premature ovarian failure 1' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0009729 nephropathy - deafness - hyperparathyroidism syndrome 'nephropathy - deafness - hyperparathyroidism syndrome' SubClassOf 'syndromic disease' 'nephropathy - deafness - hyperparathyroidism syndrome' SubClassOf 'genetic disorder' 'nephropathy - deafness - hyperparathyroidism syndrome' SubClassOf 'syndromic disease' 'nephropathy - deafness - hyperparathyroidism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010718 absent radius-anogenital anomalies syndrome 'absent radius-anogenital anomalies syndrome' SubClassOf 'genetic disorder' 'absent radius-anogenital anomalies syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009728 nephronophthisis 1 'nephronophthisis 1' SubClassOf 'syndromic disease' 'nephronophthisis 1' SubClassOf 'ciliopathy' 'nephronophthisis 1' SubClassOf 'nephronophthisis' 'nephronophthisis 1' SubClassOf 'syndromic disease' 'nephronophthisis 1' SubClassOf 'ciliopathy' 'nephronophthisis 1' SubClassOf 'nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0009727 atelosteogenesis type II 'atelosteogenesis type II' SubClassOf 'mineral metabolism disease' 'atelosteogenesis type II' SubClassOf 'atelosteogenesis' 'atelosteogenesis type II' SubClassOf 'mineral metabolism disease' 'atelosteogenesis type II' SubClassOf 'atelosteogenesis' http://purl.obolibrary.org/obo/MONDO_0009726 proteosome-associated autoinflammatory syndrome 'proteosome-associated autoinflammatory syndrome' SubClassOf 'immune system disease' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'autosomal recessive disease' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'type 1 interferonopathy of childhood' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'immune system disease' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'autosomal recessive disease' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'type 1 interferonopathy of childhood' http://purl.obolibrary.org/obo/MONDO_0009724 nail-patella-like renal disease 'nail-patella-like renal disease' SubClassOf 'kidney disease' 'nail-patella-like renal disease' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0009722 Bailey-Bloch congenital myopathy 'Bailey-Bloch congenital myopathy' SubClassOf 'congenital myopathy' 'Bailey-Bloch congenital myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0009721 Nathalie syndrome 'Nathalie syndrome' SubClassOf 'syndromic disease' 'Nathalie syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010710 Pierre Robin syndrome-faciodigital anomaly syndrome 'Pierre Robin syndrome-faciodigital anomaly syndrome' SubClassOf 'genetic disorder' 'Pierre Robin syndrome-faciodigital anomaly syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009720 Keipert syndrome 'Keipert syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Keipert syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010713 properdin deficiency, X-linked 'properdin deficiency, X-linked' SubClassOf 'inborn error of immunity' 'properdin deficiency, X-linked' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0010714 Pelizeaus-Merzbacher spectrum disorder 'Pelizeaus-Merzbacher spectrum disorder' SubClassOf 'leukodystrophy' 'Pelizeaus-Merzbacher spectrum disorder' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0010717 pyruvate dehydrogenase E1-alpha deficiency 'pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'pyruvate dehydrogenase E1-alpha deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0010729 X-linked intellectual disability, Schimke type 'X-linked intellectual disability, Schimke type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Schimke type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 'sialidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' 'sialidosis type 2' SubClassOf 'sialidosis' 'sialidosis type 2' SubClassOf 'familial mucolipidosis' 'sialidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' 'sialidosis type 2' SubClassOf 'sialidosis' 'sialidosis type 2' SubClassOf 'familial mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0009737 galactosialidosis 'galactosialidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'galactosialidosis' SubClassOf 'oligosaccharidosis' 'galactosialidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'galactosialidosis' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0009736 Neu-Laxova syndrome 1 'Neu-Laxova syndrome 1' SubClassOf 'Neu-Laxova syndrome' 'Neu-Laxova syndrome 1' SubClassOf 'Neu-Laxova syndrome' http://purl.obolibrary.org/obo/MONDO_0009735 Netherton syndrome 'Netherton syndrome' SubClassOf 'autosomal recessive disease' 'Netherton syndrome' SubClassOf 'hyper-IgE syndrome' 'Netherton syndrome' SubClassOf 'syndromic disease' 'Netherton syndrome' SubClassOf 'autosomal recessive disease' 'Netherton syndrome' SubClassOf 'hyper-IgE syndrome' 'Netherton syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 'hyperinsulinemic hypoglycemia, familial, 1' SubClassOf 'hyperinsulinemic hypoglycemia' 'hyperinsulinemic hypoglycemia, familial, 1' SubClassOf 'hyperinsulinemic hypoglycemia' http://purl.obolibrary.org/obo/MONDO_0009733 nephrotic syndrome, type 4 'nephrotic syndrome, type 4' SubClassOf 'familial nephrotic syndrome' 'nephrotic syndrome, type 4' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0010722 X-linked retinal dysplasia 'X-linked retinal dysplasia' SubClassOf 'inherited retinal dystrophy' 'X-linked retinal dysplasia' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009732 congenital nephrotic syndrome, Finnish type 'congenital nephrotic syndrome, Finnish type' SubClassOf 'familial nephrotic syndrome' 'congenital nephrotic syndrome, Finnish type' SubClassOf 'familial nephrotic syndrome' http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma 'prostate carcinoma' SubClassOf 'prostate cancer' 'prostate carcinoma' SubClassOf 'carcinoma' 'prostate carcinoma' SubClassOf 'prostate cancer' 'prostate carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0009731 nephrosis-deafness-urinary tract-digital malformations syndrome 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'syndromic disease' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome 'Rett syndrome' SubClassOf 'syndromic disease' 'Rett syndrome' SubClassOf 'pervasive developmental disorder' 'Rett syndrome' SubClassOf 'syndromic disease' 'Rett syndrome' SubClassOf 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0010725 X-linked retinoschisis 'X-linked retinoschisis' SubClassOf 'vitreoretinal degeneration' 'X-linked retinoschisis' SubClassOf 'retinoschisis' 'X-linked retinoschisis' SubClassOf 'vitreoretinal degeneration' 'X-linked retinoschisis' SubClassOf 'retinoschisis' http://purl.obolibrary.org/obo/MONDO_0010728 SCARF syndrome 'SCARF syndrome' SubClassOf 'syndromic disease' 'SCARF syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0001666 aortic aneurysm 'aortic aneurysm' SubClassOf 'aortic disease' 'aortic aneurysm' SubClassOf 'aortic disease' http://purl.obolibrary.org/obo/MONDO_0010720 partial androgen insensitivity syndrome 'partial androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' 'partial androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0009748 hereditary sensory and autonomic neuropathy with spastic paraplegia 'hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary sensory and autonomic neuropathy with spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) 'mitochondrial DNA depletion syndrome 6 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome 6 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 'hereditary sensory and autonomic neuropathy type 4' SubClassOf 'hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 4' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0009745 neuronal ceroid lipofuscinosis 5 'neuronal ceroid lipofuscinosis 5' SubClassOf 'neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 5' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 5' SubClassOf 'neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 5' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0009744 neuronal ceroid lipofuscinosis 1 'neuronal ceroid lipofuscinosis 1' SubClassOf 'neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 1' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0010733 hereditary spastic paraplegia 2 'hereditary spastic paraplegia 2' SubClassOf 'leukodystrophy' 'hereditary spastic paraplegia 2' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 2' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 2' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0010732 spastic paraparesis-deafness syndrome 'spastic paraparesis-deafness syndrome' SubClassOf 'genetic disorder' 'spastic paraparesis-deafness syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009742 neuroectodermal melanolysosomal disease 'neuroectodermal melanolysosomal disease' SubClassOf 'genetic disorder' 'neuroectodermal melanolysosomal disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010735 Kennedy disease 'Kennedy disease' SubClassOf 'inherited neurodegenerative disorder' 'Kennedy disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0009741 neuroblastoma, susceptibility to, 1 'neuroblastoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0009740 neurofaciodigitorenal syndrome 'neurofaciodigitorenal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'neurofaciodigitorenal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010737 spondyloepiphyseal dysplasia tarda, X-linked 'spondyloepiphyseal dysplasia tarda, X-linked' SubClassOf 'spondyloepiphyseal dysplasia tarda' 'spondyloepiphyseal dysplasia tarda, X-linked' SubClassOf 'spondyloepiphyseal dysplasia tarda' http://purl.obolibrary.org/obo/MONDO_0010738 spondylometaphyseal dysplasia, Golden type 'spondylometaphyseal dysplasia, Golden type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Golden type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome 'Simpson-Golabi-Behmel syndrome' SubClassOf 'syndromic disease' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'overgrowth syndrome' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'syndromic disease' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'acid sphingomyelinase deficiency' 'Niemann-Pick disease type A' SubClassOf 'acid sphingomyelinase deficiency' http://purl.obolibrary.org/obo/MONDO_0010743 thrombocytopenia 1 'thrombocytopenia 1' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia 1' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0010745 beta-thalassemia-X-linked thrombocytopenia syndrome 'beta-thalassemia-X-linked thrombocytopenia syndrome' SubClassOf 'GATA1-Related X-Linked Cytopenia' 'beta-thalassemia-X-linked thrombocytopenia syndrome' SubClassOf 'GATA1-Related X-Linked Cytopenia' http://purl.obolibrary.org/obo/MONDO_0010748 torticollis-keloids-cryptorchidism-renal dysplasia syndrome 'torticollis-keloids-cryptorchidism-renal dysplasia syndrome' SubClassOf 'disorder of development or morphogenesis' 'torticollis-keloids-cryptorchidism-renal dysplasia syndrome' SubClassOf 'syndromic disease' 'torticollis-keloids-cryptorchidism-renal dysplasia syndrome' SubClassOf 'disorder of development or morphogenesis' 'torticollis-keloids-cryptorchidism-renal dysplasia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010747 X-linked dystonia-parkinsonism 'X-linked dystonia-parkinsonism' SubClassOf 'focal dystonia' 'X-linked dystonia-parkinsonism' SubClassOf 'parkinsonian disorder' 'X-linked dystonia-parkinsonism' SubClassOf 'combined dystonia' 'X-linked dystonia-parkinsonism' SubClassOf 'focal dystonia' 'X-linked dystonia-parkinsonism' SubClassOf 'parkinsonian disorder' 'X-linked dystonia-parkinsonism' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0010749 trigonocephaly-short stature-developmental delay syndrome 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'syndromic disease' 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010740 taurodontism, microdontia, and dens invaginatus 'taurodontism, microdontia, and dens invaginatus' SubClassOf 'genetic disorder' 'taurodontism, microdontia, and dens invaginatus' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010742 pentalogy of Cantrell 'pentalogy of Cantrell' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'pentalogy of Cantrell' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010741 tooth agenesis, selective, X-linked, 1 'tooth agenesis, selective, X-linked, 1' SubClassOf 'tooth agenesis' 'tooth agenesis, selective, X-linked, 1' SubClassOf 'tooth agenesis' http://purl.obolibrary.org/obo/MONDO_0009769 oculo-palato-cerebral syndrome 'oculo-palato-cerebral syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'oculo-palato-cerebral syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009768 oculodentodigital dysplasia, autosomal recessive 'oculodentodigital dysplasia, autosomal recessive' SubClassOf 'oculodentodigital dysplasia' 'oculodentodigital dysplasia, autosomal recessive' SubClassOf 'oculodentodigital dysplasia' http://purl.obolibrary.org/obo/MONDO_0009767 oculocerebral hypopigmentation syndrome, Cross type 'oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'syndromic oculocutaneous albinism' 'oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'disorder of development or morphogenesis' 'oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'syndromic oculocutaneous albinism' 'oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010754 van den Bosch syndrome 'van den Bosch syndrome' SubClassOf 'syndromic disease' 'van den Bosch syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009764 ocular motor apraxia, Cogan type 'ocular motor apraxia, Cogan type' SubClassOf 'eye disease' 'ocular motor apraxia, Cogan type' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009762 nystagmus, congenital, autosomal recessive 'nystagmus, congenital, autosomal recessive' SubClassOf 'congenital nystagmus' 'nystagmus, congenital, autosomal recessive' SubClassOf 'congenital nystagmus' http://purl.obolibrary.org/obo/MONDO_0010759 Wildervanck syndrome 'Wildervanck syndrome' SubClassOf 'Klippel-Feil syndrome' 'Wildervanck syndrome' SubClassOf 'syndromic disease' 'Wildervanck syndrome' SubClassOf 'Klippel-Feil syndrome' 'Wildervanck syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0001675 simian immunodeficiency virus infection 'simian immunodeficiency virus infection' SubClassOf 'viral infectious disease, non-human animal' 'simian immunodeficiency virus infection' SubClassOf 'viral infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0009760 Norman-Roberts syndrome 'Norman-Roberts syndrome' SubClassOf 'syndromic disease' 'Norman-Roberts syndrome' SubClassOf 'microlissencephaly' 'Norman-Roberts syndrome' SubClassOf 'syndromic disease' 'Norman-Roberts syndrome' SubClassOf 'microlissencephaly' http://purl.obolibrary.org/obo/MONDO_0010750 ulnar hypoplasia-split foot syndrome 'ulnar hypoplasia-split foot syndrome' SubClassOf 'dysostosis' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'congenital limb malformation' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'genetic disorder' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'syndromic disease' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'dysostosis' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'congenital limb malformation' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'genetic disorder' 'ulnar hypoplasia-split foot syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010753 cardiac valvular dysplasia, X-linked 'cardiac valvular dysplasia, X-linked' SubClassOf 'congenital tricuspid malformation' 'cardiac valvular dysplasia, X-linked' SubClassOf 'congenital tricuspid malformation' http://purl.obolibrary.org/obo/MONDO_0010752 VACTERL association, X-linked, with or without hydrocephalus 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf 'VACTERL/vater association' 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf 'VACTERL with hydrocephalus' 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf 'VACTERL/vater association' 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf 'VACTERL with hydrocephalus' http://purl.obolibrary.org/obo/MONDO_0009779 autosomal recessive omodysplasia 'autosomal recessive omodysplasia' SubClassOf 'omodysplasia' 'autosomal recessive omodysplasia' SubClassOf 'omodysplasia' http://purl.obolibrary.org/obo/MONDO_0009777 Oliver syndrome 'Oliver syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Oliver syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010765 46,XY complete gonadal dysgenesis '46,XY complete gonadal dysgenesis' SubClassOf 'disorder of development or morphogenesis' '46,XY complete gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '46,XY complete gonadal dysgenesis' SubClassOf 'disorder of development or morphogenesis' '46,XY complete gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0009776 spermatogenic failure 1 'spermatogenic failure 1' SubClassOf 'azoospermia' 'spermatogenic failure 1' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0010768 gonadoblastoma 'gonadoblastoma' SubClassOf 'mixed germ cell-sex cord-stromal tumor' 'gonadoblastoma' SubClassOf 'sex cord-stromal tumor' 'gonadoblastoma' SubClassOf 'gonadal disorder' 'gonadoblastoma' SubClassOf 'blastoma' 'gonadoblastoma' SubClassOf 'mixed germ cell-sex cord-stromal tumor' 'gonadoblastoma' SubClassOf 'sex cord-stromal tumor' 'gonadoblastoma' SubClassOf 'gonadal disorder' 'gonadoblastoma' SubClassOf 'blastoma' http://purl.obolibrary.org/obo/MONDO_0009774 cloacal exstrophy 'cloacal exstrophy' SubClassOf 'exstrophy-epispadias complex' 'cloacal exstrophy' SubClassOf 'syndromic disease' 'cloacal exstrophy' SubClassOf 'exstrophy-epispadias complex' 'cloacal exstrophy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009773 odonto-onycho-dermal dysplasia 'odonto-onycho-dermal dysplasia' SubClassOf 'diffuse palmoplantar keratoderma' 'odonto-onycho-dermal dysplasia' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0009771 oculotrichodysplasia 'oculotrichodysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'oculotrichodysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009780 lethal omphalocele-cleft palate syndrome 'lethal omphalocele-cleft palate syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'lethal omphalocele-cleft palate syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009787 3-methylglutaconic aciduria type 3 '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial 'hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial' SubClassOf 'genetic disorder' 'hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010779 mitochondrial non-syndromic sensorineural hearing loss 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009786 optic atrophy 6 'optic atrophy 6' SubClassOf 'hereditary optic atrophy' 'optic atrophy 6' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0009785 opsismodysplasia 'opsismodysplasia' SubClassOf 'severe spondylodysplastic dysplasia' 'opsismodysplasia' SubClassOf 'severe spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009783 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1' SubClassOf 'autosomal recessive progressive external ophthalmoplegia' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1' SubClassOf 'autosomal recessive progressive external ophthalmoplegia' http://purl.obolibrary.org/obo/MONDO_0010773 mitochondrial myopathy with diabetes 'mitochondrial myopathy with diabetes' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial myopathy with diabetes' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0019107 Rh deficiency syndrome 'Rh deficiency syndrome' SubClassOf 'hereditary stomatocytosis' 'Rh deficiency syndrome' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 'dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'disorder of development or morphogenesis' 'dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019101 retinal capillary malformation 'retinal capillary malformation' SubClassOf 'congenital vitreoretinal dysplasia' 'retinal capillary malformation' SubClassOf 'vascular neoplasm' 'retinal capillary malformation' SubClassOf 'congenital vitreoretinal dysplasia' 'retinal capillary malformation' SubClassOf 'vascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0010788 Leber hereditary optic neuropathy 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic atrophy' 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic neuropathy' 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic atrophy' 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0009798 Primrose syndrome 'Primrose syndrome' SubClassOf 'syndromic disease' 'Primrose syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010787 Kearns-Sayre syndrome 'Kearns-Sayre syndrome' SubClassOf 'syndromic disease' 'Kearns-Sayre syndrome' SubClassOf 'progressive external ophthalmoplegia' 'Kearns-Sayre syndrome' SubClassOf 'disorder of visual system' 'Kearns-Sayre syndrome' SubClassOf 'syndromic disease' 'Kearns-Sayre syndrome' SubClassOf 'disorder of visual system' 'Kearns-Sayre syndrome' SubClassOf 'progressive external ophthalmoplegia' http://purl.obolibrary.org/obo/MONDO_0020112 vitamin B12- and folate-independent constitutional megaloblastic anemia 'vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'megaloblastic anemia' 'vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'inherited deficiency anemia' 'vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'megaloblastic anemia' 'vitamin B12- and folate-independent constitutional megaloblastic anemia' SubClassOf 'inherited deficiency anemia' http://purl.obolibrary.org/obo/MONDO_0009797 orotic aciduria 'orotic aciduria' SubClassOf 'vitamin B12- and folate-independent constitutional megaloblastic anemia' 'orotic aciduria' SubClassOf 'inborn disorder of pyrimidine metabolism' 'orotic aciduria' SubClassOf 'vitamin B12- and folate-independent constitutional megaloblastic anemia' 'orotic aciduria' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009796 ornithine aminotransferase deficiency 'ornithine aminotransferase deficiency' SubClassOf 'hereditary peripheral neuropathy' 'ornithine aminotransferase deficiency' SubClassOf 'optic choroid disorder' 'ornithine aminotransferase deficiency' SubClassOf 'inborn disorder of ornithine metabolism' 'ornithine aminotransferase deficiency' SubClassOf 'inherited retinal dystrophy' 'ornithine aminotransferase deficiency' SubClassOf 'hereditary peripheral neuropathy' 'ornithine aminotransferase deficiency' SubClassOf 'optic choroid disorder' 'ornithine aminotransferase deficiency' SubClassOf 'inborn disorder of ornithine metabolism' 'ornithine aminotransferase deficiency' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010789 MELAS syndrome 'MELAS syndrome' SubClassOf 'syndromic disease' 'MELAS syndrome' SubClassOf 'mitochondrial encephalomyopathy' 'MELAS syndrome' SubClassOf 'syndromic disease' 'MELAS syndrome' SubClassOf 'mitochondrial encephalomyopathy' http://purl.obolibrary.org/obo/MONDO_0009795 orofaciodigital syndrome IX 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009794 orofaciodigital syndrome IV 'orofaciodigital syndrome IV' SubClassOf 'thoracic malformation' 'orofaciodigital syndrome IV' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome IV' SubClassOf 'short rib dysplasia' 'orofaciodigital syndrome IV' SubClassOf 'thoracic malformation' 'orofaciodigital syndrome IV' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome IV' SubClassOf 'short rib dysplasia' http://purl.obolibrary.org/obo/MONDO_0009793 orofaciodigital syndrome III 'orofaciodigital syndrome III' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome III' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009792 ichthyosis-oral and digital anomalies syndrome 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'syndromic disease' 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'inherited ichthyosis' 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'syndromic disease' 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'inherited ichthyosis' 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency 'mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial myopathy with reversible cytochrome C oxidase deficiency' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0020119 X-linked syndromic intellectual disability 'X-linked syndromic intellectual disability' SubClassOf 'X-linked intellectual disability' 'X-linked syndromic intellectual disability' SubClassOf 'X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020117 alpha granule disease 'alpha granule disease' SubClassOf 'inherited thrombocytopenia' 'alpha granule disease' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0010786 chronic diarrhea with villous atrophy 'chronic diarrhea with villous atrophy' SubClassOf 'intestinal disease' 'chronic diarrhea with villous atrophy' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0020115 secondary polycythemia 'secondary polycythemia' SubClassOf 'polycythemia' 'secondary polycythemia' SubClassOf 'polycythemia' http://purl.obolibrary.org/obo/MONDO_0019113 benign paroxysmal torticollis of infancy 'benign paroxysmal torticollis of infancy' SubClassOf 'paroxysmal dystonia' 'benign paroxysmal torticollis of infancy' SubClassOf 'paroxysmal dystonia' http://purl.obolibrary.org/obo/MONDO_0019112 cancer-associated retinopathy 'cancer-associated retinopathy' SubClassOf 'paraneoplastic neurologic syndrome' 'cancer-associated retinopathy' SubClassOf 'paraneoplastic neurologic syndrome' http://purl.obolibrary.org/obo/MONDO_0019111 familial thrombocytosis 'familial thrombocytosis' SubClassOf 'thrombocytosis disease' 'familial thrombocytosis' SubClassOf 'thrombocytosis disease' http://purl.obolibrary.org/obo/MONDO_0019130 tubular renal disease-cardiomyopathy syndrome 'tubular renal disease-cardiomyopathy syndrome' SubClassOf 'syndromic disease' 'tubular renal disease-cardiomyopathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010799 deafness, aminoglycoside-induced 'deafness, aminoglycoside-induced' SubClassOf 'postlingual non-syndromic genetic hearing loss' 'deafness, aminoglycoside-induced' SubClassOf 'postlingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010798 proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome 'proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome' SubClassOf 'syndromic disease' 'proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010791 myoglobinuria, recurrent 'myoglobinuria, recurrent' SubClassOf 'hereditary myoglobinuria' 'myoglobinuria, recurrent' SubClassOf 'hereditary recurrent myoglobinuria' 'myoglobinuria, recurrent' SubClassOf 'hereditary myoglobinuria' 'myoglobinuria, recurrent' SubClassOf 'hereditary recurrent myoglobinuria' http://purl.obolibrary.org/obo/MONDO_0010790 MERRF syndrome 'MERRF syndrome' SubClassOf 'mitochondrial encephalomyopathy' 'MERRF syndrome' SubClassOf 'metabolic epilepsy' 'MERRF syndrome' SubClassOf 'syndromic disease' 'MERRF syndrome' SubClassOf 'mitochondrial encephalomyopathy' 'MERRF syndrome' SubClassOf 'syndromic disease' 'MERRF syndrome' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0010793 nephropathy, chronic tubulointerstitial 'nephropathy, chronic tubulointerstitial' SubClassOf 'genetic disorder' 'nephropathy, chronic tubulointerstitial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010792 lethal infantile mitochondrial myopathy 'lethal infantile mitochondrial myopathy' SubClassOf 'inborn mitochondrial myopathy' 'lethal infantile mitochondrial myopathy' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0010795 oncocytic neoplasm 'oncocytic neoplasm' SubClassOf 'glandular cell neoplasm' 'oncocytic neoplasm' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0019129 global developmental delay-osteopenia-ectodermal defect syndrome 'global developmental delay-osteopenia-ectodermal defect syndrome' SubClassOf 'syndromic disease' 'global developmental delay-osteopenia-ectodermal defect syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia 'mullerian aplasia' SubClassOf 'female reproductive system disease' 'mullerian aplasia' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0010797 Pearson syndrome 'Pearson syndrome' SubClassOf 'syndromic disease' 'Pearson syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010796 Parkinson disease, mitochondrial 'Parkinson disease, mitochondrial' SubClassOf 'Parkinson disease' 'Parkinson disease, mitochondrial' SubClassOf 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0019120 pili bifurcati 'pili bifurcati' SubClassOf 'hair anomaly' 'pili bifurcati' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0019141 porokeratosis of Mibelli 'porokeratosis of Mibelli' SubClassOf 'porokeratosis' 'porokeratosis of Mibelli' SubClassOf 'porokeratosis' http://purl.obolibrary.org/obo/MONDO_0020135 pontocerebellar hypoplasia 'pontocerebellar hypoplasia' SubClassOf 'central nervous system malformation' 'pontocerebellar hypoplasia' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0020134 cystic malformation of the posterior fossa 'cystic malformation of the posterior fossa' SubClassOf 'central nervous system malformation' 'cystic malformation of the posterior fossa' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0019139 acquired hemophilia 'acquired hemophilia' SubClassOf 'hemorrhagic disease' 'acquired hemophilia' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0019131 ossification anomalies-psychomotor developmental delay syndrome 'ossification anomalies-psychomotor developmental delay syndrome' SubClassOf 'thoracic malformation' 'ossification anomalies-psychomotor developmental delay syndrome' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 'visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019152 Oguchi disease 'Oguchi disease' SubClassOf 'inherited retinal dystrophy' 'Oguchi disease' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0019151 oligocone trichromacy 'oligocone trichromacy' SubClassOf 'inherited retinal dystrophy' 'oligocone trichromacy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020124 neuromuscular junction disease 'neuromuscular junction disease' SubClassOf 'neuromuscular disease' 'neuromuscular junction disease' SubClassOf 'neuromuscular disease' http://purl.obolibrary.org/obo/MONDO_0020123 metabolic myopathy 'metabolic myopathy' SubClassOf 'myopathy' 'metabolic myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0020122 acquired idiopathic inflammatory myopathy 'acquired idiopathic inflammatory myopathy' SubClassOf 'acquired skeletal muscle disease' 'acquired idiopathic inflammatory myopathy' SubClassOf 'idiopathic inflammatory myopathy' 'acquired idiopathic inflammatory myopathy' SubClassOf 'idiopathic inflammatory myopathy' 'acquired idiopathic inflammatory myopathy' SubClassOf 'acquired skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0020121 muscular dystrophy 'muscular dystrophy' SubClassOf 'myopathy' 'muscular dystrophy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0020129 acquired motor neuron disease 'acquired motor neuron disease' SubClassOf 'motor neuron disease' 'acquired motor neuron disease' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0020127 hereditary peripheral neuropathy 'hereditary peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'hereditary peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0019149 cholesteryl ester storage disease 'cholesteryl ester storage disease' SubClassOf 'lysosomal acid lipase deficiency' 'cholesteryl ester storage disease' SubClassOf 'lysosomal acid lipase deficiency' http://purl.obolibrary.org/obo/MONDO_0019148 Wolman disease 'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency' 'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency' http://purl.obolibrary.org/obo/MONDO_0019142 inherited porphyria 'inherited porphyria' SubClassOf 'inborn disorder of porphyrin metabolism' 'inherited porphyria' SubClassOf 'hereditary photodermatosis' 'inherited porphyria' SubClassOf 'inborn disorder of porphyrin metabolism' 'inherited porphyria' SubClassOf 'hereditary photodermatosis' http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency 'hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'inherited thrombophilia' 'hereditary thrombophilia due to congenital protein C deficiency' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0019144 hereditary thrombophilia due to congenital protein S deficiency 'hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'protein S deficiency' 'hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'inherited thrombophilia' 'hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'protein S deficiency' 'hereditary thrombophilia due to congenital protein S deficiency' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 'pseudohypoaldosteronism type 1' SubClassOf 'inherited renal tubular disease' 'pseudohypoaldosteronism type 1' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0020153 cryptophthalmia 'cryptophthalmia' SubClassOf 'eyelid disease' 'cryptophthalmia' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion 'congenital entropion' SubClassOf 'entropion' 'congenital entropion' SubClassOf 'entropion' http://purl.obolibrary.org/obo/MONDO_0019154 androgen insensitivity syndrome 'androgen insensitivity syndrome' SubClassOf '46,XY disorder of sex development' 'androgen insensitivity syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'brain malformation-congenital heart disease-postaxial polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019156 angioosteohypotrophic syndrome 'angioosteohypotrophic syndrome' SubClassOf 'syndromic disease' 'angioosteohypotrophic syndrome' SubClassOf 'bone development disease' 'angioosteohypotrophic syndrome' SubClassOf 'syndromic disease' 'angioosteohypotrophic syndrome' SubClassOf 'bone development disease' http://purl.obolibrary.org/obo/MONDO_0019155 Leydig cell hypoplasia 'Leydig cell hypoplasia' SubClassOf 'endocrine system disease' 'Leydig cell hypoplasia' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0019172 aniridia 'aniridia' SubClassOf 'iris disorder' 'aniridia' SubClassOf 'disorder of development or morphogenesis' 'aniridia' SubClassOf 'iris disorder' 'aniridia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019170 polyarteritis nodosa 'polyarteritis nodosa' SubClassOf 'Arteritis' 'polyarteritis nodosa' SubClassOf 'Arteritis' http://purl.obolibrary.org/obo/MONDO_0020143 cerebral lipidosis with dementia 'cerebral lipidosis with dementia' SubClassOf 'brain disease' 'cerebral lipidosis with dementia' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0019169 pyruvate dehydrogenase deficiency 'pyruvate dehydrogenase deficiency' SubClassOf 'pyruvate metabolism disorder' 'pyruvate dehydrogenase deficiency' SubClassOf 'inborn carbohydrate metabolic disorder' 'pyruvate dehydrogenase deficiency' SubClassOf 'pyruvate metabolism disorder' 'pyruvate dehydrogenase deficiency' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0019164 6q terminal deletion syndrome '6q terminal deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' '6q terminal deletion syndrome' SubClassOf 'syndromic disease' '6q terminal deletion syndrome' SubClassOf 'syndromic disease' '6q terminal deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0020172 palpebral epidermal tumor 'palpebral epidermal tumor' SubClassOf 'eyelid neoplasm' 'palpebral epidermal tumor' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0019182 inherited obesity 'inherited obesity' SubClassOf 'endocrine system disease' 'inherited obesity' SubClassOf 'obesity' 'inherited obesity' SubClassOf 'endocrine system disease' 'inherited obesity' SubClassOf 'obesity' http://purl.obolibrary.org/obo/MONDO_0019181 non-syndromic X-linked intellectual disability 'non-syndromic X-linked intellectual disability' SubClassOf 'non-syndromic intellectual disability' 'non-syndromic X-linked intellectual disability' SubClassOf 'X-linked intellectual disability' 'non-syndromic X-linked intellectual disability' SubClassOf 'non-syndromic intellectual disability' 'non-syndromic X-linked intellectual disability' SubClassOf 'X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia 'hereditary hemorrhagic telangiectasia' SubClassOf 'capillary malformation' 'hereditary hemorrhagic telangiectasia' SubClassOf 'telangiectasis' 'hereditary hemorrhagic telangiectasia' SubClassOf 'autosomal dominant disease' 'hereditary hemorrhagic telangiectasia' SubClassOf 'capillary malformation' 'hereditary hemorrhagic telangiectasia' SubClassOf 'telangiectasis' 'hereditary hemorrhagic telangiectasia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0020179 palpebral nevus 'palpebral nevus' SubClassOf 'melanocytic nevus' 'palpebral nevus' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0020175 malignant tumor of palpebral epidermis 'malignant tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' 'malignant tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' http://purl.obolibrary.org/obo/MONDO_0020173 benign tumor of palpebral epidermis 'benign tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' 'benign tumor of palpebral epidermis' SubClassOf 'palpebral epidermal tumor' http://purl.obolibrary.org/obo/MONDO_0019179 monosomy 9q22.3 'monosomy 9q22.3' SubClassOf 'partial monosomy of the long arm of chromosome 9' 'monosomy 9q22.3' SubClassOf 'partial monosomy of the long arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0019175 primary lymphedema 'primary lymphedema' SubClassOf 'lymphedema' 'primary lymphedema' SubClassOf 'lymphedema' http://purl.obolibrary.org/obo/MONDO_0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 'auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019177 odontoleukodystrophy 'odontoleukodystrophy' SubClassOf 'leukodystrophy' 'odontoleukodystrophy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0020161 congenital ectropion 'congenital ectropion' SubClassOf 'ectropion' 'congenital ectropion' SubClassOf 'ectropion' http://purl.obolibrary.org/obo/MONDO_0019193 acquired generalized lipodystrophy 'acquired generalized lipodystrophy' SubClassOf 'acquired lipodystrophy' 'acquired generalized lipodystrophy' SubClassOf 'acquired lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0019195 hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 'hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf 'hereditary inclusion-body myopathy' 'hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome' SubClassOf 'hereditary inclusion-body myopathy' http://purl.obolibrary.org/obo/MONDO_0019190 juvenile polyposis of infancy 'juvenile polyposis of infancy' SubClassOf 'juvenile polyposis syndrome' 'juvenile polyposis of infancy' SubClassOf 'juvenile polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0019192 AKT2-related familial partial lipodystrophy 'AKT2-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'AKT2-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0019191 IgG4-related dacryoadenitis and sialadenitis 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'lacrimal apparatus disease' 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'lacrimal apparatus disease' http://purl.obolibrary.org/obo/MONDO_0019187 Axenfeld-Rieger syndrome 'Axenfeld-Rieger syndrome' SubClassOf 'neurocristopathy' 'Axenfeld-Rieger syndrome' SubClassOf 'syndromic disease' 'Axenfeld-Rieger syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Axenfeld-Rieger syndrome' SubClassOf 'neurocristopathy' 'Axenfeld-Rieger syndrome' SubClassOf 'syndromic disease' 'Axenfeld-Rieger syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019189 inborn disorder of amino acid and other organic acid metabolism 'inborn disorder of amino acid and other organic acid metabolism' SubClassOf 'inborn errors of metabolism' 'inborn disorder of amino acid and other organic acid metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic intellectual disability' 'Rubinstein-Taybi syndrome' SubClassOf 'dysostosis' 'Rubinstein-Taybi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic intellectual disability' 'Rubinstein-Taybi syndrome' SubClassOf 'dysostosis' 'Rubinstein-Taybi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019197 folinic acid-responsive seizures 'folinic acid-responsive seizures' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' 'folinic acid-responsive seizures' SubClassOf 'metabolic epilepsy' 'folinic acid-responsive seizures' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' 'folinic acid-responsive seizures' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0020183 neurogenic palpebral tumor 'neurogenic palpebral tumor' SubClassOf 'eyelid neoplasm' 'neurogenic palpebral tumor' SubClassOf 'eyelid neoplasm' http://www.ebi.ac.uk/efo/EFO_1001312 Endometritis 'Endometritis' SubClassOf 'endometrial disorder' 'Endometritis' SubClassOf 'endometrial disorder' http://www.ebi.ac.uk/efo/EFO_1001318 Escherichia coli Infections 'Escherichia coli Infections' SubClassOf 'bacterial disease' 'Escherichia coli Infections' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001316 Eosinophilia-Myalgia Syndrome 'Eosinophilia-Myalgia Syndrome' SubClassOf 'Hypereosinophilic syndrome' 'Eosinophilia-Myalgia Syndrome' SubClassOf 'Hypereosinophilic syndrome' http://www.ebi.ac.uk/efo/EFO_1001324 Fascioliasis 'Fascioliasis' SubClassOf 'Helminthiasis' 'Fascioliasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_1001320 Exanthema Subitum 'Exanthema Subitum' SubClassOf 'viral disease' 'Exanthema Subitum' SubClassOf 'exanthem' 'Exanthema Subitum' SubClassOf 'viral disease' 'Exanthema Subitum' SubClassOf 'exanthem' http://www.ebi.ac.uk/efo/EFO_1001335 Gynatresia 'Gynatresia' SubClassOf 'female reproductive system disease' 'Gynatresia' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1001333 Glycogen Storage Disease Type 2b 'Glycogen Storage Disease Type 2b' SubClassOf 'lysosomal glycogen storage disease' 'Glycogen Storage Disease Type 2b' SubClassOf 'disorder of glycogen metabolism' 'Glycogen Storage Disease Type 2b' SubClassOf 'lysosomal glycogen storage disease' 'Glycogen Storage Disease Type 2b' SubClassOf 'disorder of glycogen metabolism' http://www.ebi.ac.uk/efo/EFO_1001331 Genital neoplasm, female 'Genital neoplasm, female' SubClassOf 'female reproductive system neoplasm' 'Genital neoplasm, female' SubClassOf 'reproductive system cancer' 'Genital neoplasm, female' SubClassOf 'female reproductive system neoplasm' 'Genital neoplasm, female' SubClassOf 'reproductive system cancer' http://www.ebi.ac.uk/efo/EFO_1001330 Foster-Kennedy syndrome 'Foster-Kennedy syndrome' SubClassOf 'papilledema' 'Foster-Kennedy syndrome' SubClassOf 'eye disease' 'Foster-Kennedy syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001339 Heart neoplasm 'Heart neoplasm' SubClassOf 'neoplasm of thorax' 'Heart neoplasm' SubClassOf 'heart disease' 'Heart neoplasm' SubClassOf 'neoplasm of thorax' 'Heart neoplasm' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_1001346 Hepatopulmonary Syndrome 'Hepatopulmonary Syndrome' SubClassOf 'liver disease' 'Hepatopulmonary Syndrome' SubClassOf 'liver disease' http://www.ebi.ac.uk/efo/EFO_1001345 Hepatitis, Alcoholic 'Hepatitis, Alcoholic' SubClassOf 'alcoholic liver disease' 'Hepatitis, Alcoholic' SubClassOf 'alcoholic liver disease' http://www.ebi.ac.uk/efo/EFO_1001344 Hemarthrosis 'Hemarthrosis' SubClassOf 'joint disease' 'Hemarthrosis' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1001342 Helminthiasis 'Helminthiasis' SubClassOf 'parasitic infection' 'Helminthiasis' SubClassOf 'parasitic infection' http://www.ebi.ac.uk/efo/EFO_1001341 Heavy Chain Disease 'Heavy Chain Disease' SubClassOf 'plasma cell neoplasm' 'Heavy Chain Disease' SubClassOf 'plasma cell neoplasm' http://www.ebi.ac.uk/efo/EFO_1001349 Human T-lymphotropic virus 2 infectious disease 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'Deltaretrovirus Infections' 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'Deltaretrovirus Infections' http://www.ebi.ac.uk/efo/EFO_1001354 Kleine-Levin Syndrome 'Kleine-Levin Syndrome' SubClassOf 'syndromic disease' 'Kleine-Levin Syndrome' SubClassOf 'recurrent hypersomnia' 'Kleine-Levin Syndrome' SubClassOf 'syndromic disease' 'Kleine-Levin Syndrome' SubClassOf 'recurrent hypersomnia' http://www.ebi.ac.uk/efo/EFO_1001361 localised scleroderma 'localised scleroderma' SubClassOf 'scleroderma' 'localised scleroderma' SubClassOf 'scleroderma' http://www.ebi.ac.uk/efo/EFO_1001362 Lung Abscess 'Lung Abscess' SubClassOf 'lung disease' 'Lung Abscess' SubClassOf 'abscess' 'Lung Abscess' SubClassOf 'lung disease' 'Lung Abscess' SubClassOf 'abscess' http://www.ebi.ac.uk/efo/EFO_1001372 Monieziasis 'Monieziasis' SubClassOf 'Helminthiasis' 'Monieziasis' SubClassOf 'Helminthiasis' http://www.ebi.ac.uk/efo/EFO_1001379 neuroleptic malignant syndrome 'neuroleptic malignant syndrome' SubClassOf 'nervous system disease' 'neuroleptic malignant syndrome' SubClassOf 'syndromic disease' 'neuroleptic malignant syndrome' SubClassOf 'nervous system disease' 'neuroleptic malignant syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001378 neurogenic arthropathy 'neurogenic arthropathy' SubClassOf 'joint disease' 'neurogenic arthropathy' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1001376 Necrobiotic Xanthogranuloma 'Necrobiotic Xanthogranuloma' SubClassOf 'non-Langerhans cell histiocytosis' 'Necrobiotic Xanthogranuloma' SubClassOf 'non-Langerhans cell histiocytosis' http://www.ebi.ac.uk/efo/EFO_1001375 Myocardial Ischemia 'Myocardial Ischemia' SubClassOf 'myocardial disorder' 'Myocardial Ischemia' SubClassOf 'myocardial disorder' http://www.ebi.ac.uk/efo/EFO_1001383 Opsoclonus-Myoclonus Syndrome 'Opsoclonus-Myoclonus Syndrome' SubClassOf 'paraneoplastic neurologic syndrome' 'Opsoclonus-Myoclonus Syndrome' SubClassOf 'movement disorder' 'Opsoclonus-Myoclonus Syndrome' SubClassOf 'paraneoplastic neurologic syndrome' 'Opsoclonus-Myoclonus Syndrome' SubClassOf 'movement disorder' http://www.ebi.ac.uk/efo/EFO_1001382 Obesity Hypoventilation Syndrome 'Obesity Hypoventilation Syndrome' SubClassOf 'genetic disorder' 'Obesity Hypoventilation Syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001380 Niemann-Pick disease 'Niemann-Pick disease' SubClassOf 'sphingolipidosis' 'Niemann-Pick disease' SubClassOf 'non-Langerhans cell histiocytosis' 'Niemann-Pick disease' SubClassOf 'sphingolipidosis' 'Niemann-Pick disease' SubClassOf 'non-Langerhans cell histiocytosis' http://www.ebi.ac.uk/efo/EFO_1001389 Peptic ulcer perforation 'Peptic ulcer perforation' SubClassOf 'peptic ulcer disease' 'Peptic ulcer perforation' SubClassOf 'peptic ulcer disease' http://www.ebi.ac.uk/efo/EFO_1001388 Pelvic Inflammatory Disease 'Pelvic Inflammatory Disease' SubClassOf 'female reproductive system disease' 'Pelvic Inflammatory Disease' SubClassOf 'female reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1001387 Peliosis Hepatis 'Peliosis Hepatis' SubClassOf 'hepatic vascular disorder' 'Peliosis Hepatis' SubClassOf 'hepatic vascular disorder' http://purl.obolibrary.org/obo/MONDO_0009609 methylcobalamin deficiency type cblG 'methylcobalamin deficiency type cblG' SubClassOf 'homocystinuria without methylmalonic aciduria' 'methylcobalamin deficiency type cblG' SubClassOf 'homocystinuria without methylmalonic aciduria' http://purl.obolibrary.org/obo/MONDO_0009607 methionine adenosyltransferase deficiency 'methionine adenosyltransferase deficiency' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'methionine adenosyltransferase deficiency' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'classic organic aciduria' '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009619 microcephaly-micromelia syndrome 'microcephaly-micromelia syndrome' SubClassOf 'genetic disorder' 'microcephaly-micromelia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009618 microcephaly-cardiomyopathy syndrome 'microcephaly-cardiomyopathy syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'microcephaly-cardiomyopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' 'microcephaly-cardiomyopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009617 microcephaly 1, primary, autosomal recessive 'microcephaly 1, primary, autosomal recessive' SubClassOf 'autosomal recessive primary microcephaly' 'microcephaly 1, primary, autosomal recessive' SubClassOf 'microcephaly with intellectual disability' 'microcephaly 1, primary, autosomal recessive' SubClassOf 'autosomal recessive primary microcephaly' 'microcephaly 1, primary, autosomal recessive' SubClassOf 'microcephaly with intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009616 microcephalic primordial dwarfism, Toriello type 'microcephalic primordial dwarfism, Toriello type' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic primordial dwarfism, Toriello type' SubClassOf 'syndromic disease' 'microcephalic primordial dwarfism, Toriello type' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic primordial dwarfism, Toriello type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009615 methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 'methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'methylmalonic acidemia' 'methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0009614 methylmalonic aciduria, cblB type 'methylmalonic aciduria, cblB type' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' 'methylmalonic aciduria, cblB type' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0009613 methylmalonic aciduria, cblA type 'methylmalonic aciduria, cblA type' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' 'methylmalonic aciduria, cblA type' SubClassOf 'vitamin B12-responsive methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'methylmalonic acidemia' 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0009611 3-methylglutaconic aciduria type 4 '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0009610 3-methylglutaconic aciduria type 1 '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0010602 hemophilia A 'hemophilia A' SubClassOf 'hemophilia' 'hemophilia A' SubClassOf 'hemorrhagic disease' 'hemophilia A' SubClassOf 'inherited blood coagulation disorder' 'hemophilia A' SubClassOf 'X-linked disease' 'hemophilia A' SubClassOf 'hemophilia' 'hemophilia A' SubClassOf 'hemorrhagic disease' 'hemophilia A' SubClassOf 'inherited blood coagulation disorder' 'hemophilia A' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010604 hemophilia B 'hemophilia B' SubClassOf 'hemorrhagic disease' 'hemophilia B' SubClassOf 'hemophilia' 'hemophilia B' SubClassOf 'hemorrhagic disease' 'hemophilia B' SubClassOf 'hemophilia' http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets 'X-linked dominant hypophosphatemic rickets' SubClassOf 'abnormal mineralization disorder' 'X-linked dominant hypophosphatemic rickets' SubClassOf 'abnormal mineralization disorder' http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome 'Galloway-Mowat syndrome' SubClassOf 'syndromic disease' 'Galloway-Mowat syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009626 pseudo-TORCH syndrome 'pseudo-TORCH syndrome' SubClassOf 'autosomal recessive disease' 'pseudo-TORCH syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009624 microcephaly and chorioretinopathy 1 'microcephaly and chorioretinopathy 1' SubClassOf 'syndromic disease' 'microcephaly and chorioretinopathy 1' SubClassOf 'inherited retinal dystrophy' 'microcephaly and chorioretinopathy 1' SubClassOf 'microcephaly and chorioretinopathy' 'microcephaly and chorioretinopathy 1' SubClassOf 'syndromic disease' 'microcephaly and chorioretinopathy 1' SubClassOf 'inherited retinal dystrophy' 'microcephaly and chorioretinopathy 1' SubClassOf 'microcephaly and chorioretinopathy' http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome 'Nijmegen breakage syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome' SubClassOf 'DNA repair deficiency' 'Nijmegen breakage syndrome' SubClassOf 'autosomal recessive disease' 'Nijmegen breakage syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome' SubClassOf 'DNA repair deficiency' 'Nijmegen breakage syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010612 hydrocephaly-cerebellar agenesis syndrome 'hydrocephaly-cerebellar agenesis syndrome' SubClassOf 'syndromic disease' 'hydrocephaly-cerebellar agenesis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009622 Jawad syndrome 'Jawad syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Jawad syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'L1 syndrome' 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'L1 syndrome' http://purl.obolibrary.org/obo/MONDO_0009621 microcephaly-cervical spine fusion anomalies syndrome 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010614 X-linked congenital generalized hypertrichosis 'X-linked congenital generalized hypertrichosis' SubClassOf 'hypertrichosis lanuginosa congenita' 'X-linked congenital generalized hypertrichosis' SubClassOf 'hypertrichosis lanuginosa congenita' http://purl.obolibrary.org/obo/MONDO_0009620 Say-Barber-Miller syndrome 'Say-Barber-Miller syndrome' SubClassOf 'inborn error of immunity' 'Say-Barber-Miller syndrome' SubClassOf 'syndromic disease' 'Say-Barber-Miller syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Say-Barber-Miller syndrome' SubClassOf 'inborn error of immunity' 'Say-Barber-Miller syndrome' SubClassOf 'syndromic disease' 'Say-Barber-Miller syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010615 isolated growth hormone deficiency type III 'isolated growth hormone deficiency type III' SubClassOf 'isolated congenital growth hormone deficiency' 'isolated growth hormone deficiency type III' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 'male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009637 inborn mitochondrial myopathy 'inborn mitochondrial myopathy' SubClassOf 'congenital structural myopathy' 'inborn mitochondrial myopathy' SubClassOf 'inborn mitochondrial metabolism disorder' 'inborn mitochondrial myopathy' SubClassOf 'congenital structural myopathy' 'inborn mitochondrial myopathy' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 'mitochondrial DNA depletion syndrome 3 (hepatocerebral type)' SubClassOf 'inborn disorder of purine metabolism' 'mitochondrial DNA depletion syndrome 3 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' 'mitochondrial DNA depletion syndrome 3 (hepatocerebral type)' SubClassOf 'inborn disorder of purine metabolism' 'mitochondrial DNA depletion syndrome 3 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome, hepatocerebral form' http://purl.obolibrary.org/obo/MONDO_0009633 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 'microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma' SubClassOf 'LTBP2-related ocular dysgenesis' 'microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma' SubClassOf 'LTBP2-related ocular dysgenesis' http://purl.obolibrary.org/obo/MONDO_0010622 recessive X-linked ichthyosis 'recessive X-linked ichthyosis' SubClassOf 'inherited ichthyosis' 'recessive X-linked ichthyosis' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0010627 X-linked lymphoproliferative syndrome 'X-linked lymphoproliferative syndrome' SubClassOf 'hereditary hemophagocytic lymphohistiocytosis' 'X-linked lymphoproliferative syndrome' SubClassOf 'lymphoproliferative syndrome' 'X-linked lymphoproliferative syndrome' SubClassOf 'X-linked disease' 'X-linked lymphoproliferative syndrome' SubClassOf 'immunodeficiency disease' 'X-linked lymphoproliferative syndrome' SubClassOf 'lymphoproliferative syndrome' 'X-linked lymphoproliferative syndrome' SubClassOf 'X-linked disease' 'X-linked lymphoproliferative syndrome' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0010621 CHILD syndrome 'CHILD syndrome' SubClassOf 'melanocytic nevus' 'CHILD syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CHILD syndrome' SubClassOf 'chondrodysplasia punctata' 'CHILD syndrome' SubClassOf 'sterol biosynthesis disorder' 'CHILD syndrome' SubClassOf 'X-linked ichthyosis syndrome' 'CHILD syndrome' SubClassOf 'melanocytic nevus' 'CHILD syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CHILD syndrome' SubClassOf 'chondrodysplasia punctata' 'CHILD syndrome' SubClassOf 'sterol biosynthesis disorder' 'CHILD syndrome' SubClassOf 'X-linked ichthyosis syndrome' http://purl.obolibrary.org/obo/MONDO_0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 'monosomy 7 myelodysplasia and leukemia syndrome 1' SubClassOf 'familial monosomy 7 syndrome' 'monosomy 7 myelodysplasia and leukemia syndrome 1' SubClassOf 'familial monosomy 7 syndrome' http://purl.obolibrary.org/obo/MONDO_0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type B' SubClassOf 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://www.ebi.ac.uk/efo/EFO_1001302 Cytomegalovirus Retinitis 'Cytomegalovirus Retinitis' SubClassOf 'retinitis' 'Cytomegalovirus Retinitis' SubClassOf 'cytomegalovirus infection' 'Cytomegalovirus Retinitis' SubClassOf 'retinitis' 'Cytomegalovirus Retinitis' SubClassOf 'cytomegalovirus infection' http://purl.obolibrary.org/obo/MONDO_0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' 'sulfite oxidase deficiency due to molybdenum cofactor deficiency type A' SubClassOf 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' http://purl.obolibrary.org/obo/MONDO_0009642 orofaciodigital syndrome type II 'orofaciodigital syndrome type II' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type II' SubClassOf 'short rib dysplasia' 'orofaciodigital syndrome type II' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type II' SubClassOf 'short rib dysplasia' http://purl.obolibrary.org/obo/MONDO_0010635 hypogonadotropic hypogonadism 1 with or without anosmia 'hypogonadotropic hypogonadism 1 with or without anosmia' SubClassOf 'Kallmann syndrome' 'hypogonadotropic hypogonadism 1 with or without anosmia' SubClassOf 'Kallmann syndrome' http://www.ebi.ac.uk/efo/EFO_1001300 Cryptogenic Organizing Pneumonia 'Cryptogenic Organizing Pneumonia' SubClassOf 'idiopathic interstitial pneumonia' 'Cryptogenic Organizing Pneumonia' SubClassOf 'idiopathic interstitial pneumonia' http://purl.obolibrary.org/obo/MONDO_0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome 'keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf 'syndromic disease' 'keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010639 laryngeal abductor paralysis-intellectual disability syndrome 'laryngeal abductor paralysis-intellectual disability syndrome' SubClassOf 'syndromic disease' 'laryngeal abductor paralysis-intellectual disability syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001309 Encephalitis, Tick-Borne 'Encephalitis, Tick-Borne' SubClassOf 'viral encephalitis' 'Encephalitis, Tick-Borne' SubClassOf 'viral encephalitis' http://www.ebi.ac.uk/efo/EFO_1001307 dumping syndrome 'dumping syndrome' SubClassOf 'syndromic disease' 'dumping syndrome' SubClassOf 'postgastrectomy syndrome' 'dumping syndrome' SubClassOf 'syndromic disease' 'dumping syndrome' SubClassOf 'postgastrectomy syndrome' http://purl.obolibrary.org/obo/MONDO_0010632 developmental and epileptic encephalopathy, 1 'developmental and epileptic encephalopathy, 1' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 1' SubClassOf 'West syndrome' 'developmental and epileptic encephalopathy, 1' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 1' SubClassOf 'West syndrome' http://purl.obolibrary.org/obo/MONDO_0010631 incontinentia pigmenti 'incontinentia pigmenti' SubClassOf 'ectodermal dysplasia syndrome' 'incontinentia pigmenti' SubClassOf 'congenital vitreoretinal dysplasia' 'incontinentia pigmenti' SubClassOf 'ectodermal dysplasia syndrome' 'incontinentia pigmenti' SubClassOf 'congenital vitreoretinal dysplasia' http://www.ebi.ac.uk/efo/EFO_1001304 Dental enamel hypoplasia 'Dental enamel hypoplasia' SubClassOf 'tooth hard tissue disease' 'Dental enamel hypoplasia' SubClassOf 'tooth hard tissue disease' http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A 'mucopolysaccharidosis type 4A' SubClassOf 'mucopolysaccharidosis type 4' 'mucopolysaccharidosis type 4A' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 4A' SubClassOf 'mucopolysaccharidosis type 4' 'mucopolysaccharidosis type 4A' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0009658 mucopolysaccharidosis type 3D 'mucopolysaccharidosis type 3D' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3D' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 3D' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3D' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C 'mucopolysaccharidosis type 3C' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3C' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 3C' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3C' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0009656 mucopolysaccharidosis type 3B 'mucopolysaccharidosis type 3B' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3B' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 3B' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3B' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0010645 oculocerebrorenal syndrome 'oculocerebrorenal syndrome' SubClassOf 'inborn disorder of amino acid transport' 'oculocerebrorenal syndrome' SubClassOf 'syndromic disease' 'oculocerebrorenal syndrome' SubClassOf 'eye disease' 'oculocerebrorenal syndrome' SubClassOf 'inherited renal tubular disease' 'oculocerebrorenal syndrome' SubClassOf 'inborn disorder of amino acid transport' 'oculocerebrorenal syndrome' SubClassOf 'syndromic disease' 'oculocerebrorenal syndrome' SubClassOf 'eye disease' 'oculocerebrorenal syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0009655 mucopolysaccharidosis type 3A 'mucopolysaccharidosis type 3A' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3A' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 3A' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3A' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0010647 spermatogenic failure, X-linked, 2 'spermatogenic failure, X-linked, 2' SubClassOf 'azoospermia' 'spermatogenic failure, X-linked, 2' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0009653 mucolipidosis type IV 'mucolipidosis type IV' SubClassOf 'familial mucolipidosis' 'mucolipidosis type IV' SubClassOf 'familial mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0009652 GNPTG-mucolipidosis 'GNPTG-mucolipidosis' SubClassOf 'familial mucolipidosis' 'GNPTG-mucolipidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'GNPTG-mucolipidosis' SubClassOf 'familial mucolipidosis' 'GNPTG-mucolipidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0010649 isolated congenital megalocornea 'isolated congenital megalocornea' SubClassOf 'megalocornea' 'isolated congenital megalocornea' SubClassOf 'megalocornea' http://purl.obolibrary.org/obo/MONDO_0009650 mucolipidosis type II 'mucolipidosis type II' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucolipidosis type II' SubClassOf 'GNPTAB-mucolipidosis' 'mucolipidosis type II' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucolipidosis type II' SubClassOf 'GNPTAB-mucolipidosis' http://purl.obolibrary.org/obo/MONDO_0010641 X-linked diffuse leiomyomatosis-Alport syndrome 'X-linked diffuse leiomyomatosis-Alport syndrome' SubClassOf 'partial deletion of the long arm of chromosome X' 'X-linked diffuse leiomyomatosis-Alport syndrome' SubClassOf 'kidney disease' 'X-linked diffuse leiomyomatosis-Alport syndrome' SubClassOf 'partial deletion of the long arm of chromosome X' 'X-linked diffuse leiomyomatosis-Alport syndrome' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0009669 spinal muscular atrophy, type 1 'spinal muscular atrophy, type 1' SubClassOf 'proximal spinal muscular atrophy' 'spinal muscular atrophy, type 1' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009668 lethal multiple pterygium syndrome 'lethal multiple pterygium syndrome' SubClassOf 'syndromic disease' 'lethal multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' 'lethal multiple pterygium syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'lethal multiple pterygium syndrome' SubClassOf 'syndromic disease' 'lethal multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' 'lethal multiple pterygium syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009667 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'myopathy caused by variation in POMGNT1' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'myopathy caused by variation in POMGNT1' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0009666 holocarboxylase synthetase deficiency 'holocarboxylase synthetase deficiency' SubClassOf 'metabolic epilepsy' 'holocarboxylase synthetase deficiency' SubClassOf 'multiple carboxylase deficiency' 'holocarboxylase synthetase deficiency' SubClassOf 'metabolic epilepsy' 'holocarboxylase synthetase deficiency' SubClassOf 'multiple carboxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0010655 X-linked intellectual disability with marfanoid habitus 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'MED12-related intellectual disability syndrome' 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'MED12-related intellectual disability syndrome' 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009665 biotinidase deficiency 'biotinidase deficiency' SubClassOf 'metabolic epilepsy' 'biotinidase deficiency' SubClassOf 'multiple carboxylase deficiency' 'biotinidase deficiency' SubClassOf 'hereditary peripheral neuropathy' 'biotinidase deficiency' SubClassOf 'metabolic epilepsy' 'biotinidase deficiency' SubClassOf 'multiple carboxylase deficiency' 'biotinidase deficiency' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0010658 syndromic X-linked intellectual disability 12 'syndromic X-linked intellectual disability 12' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 12' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009664 mulibrey nanism 'mulibrey nanism' SubClassOf 'disorder of development or morphogenesis' 'mulibrey nanism' SubClassOf 'syndromic disease' 'mulibrey nanism' SubClassOf 'autosomal recessive disease' 'mulibrey nanism' SubClassOf 'disorder of defective peroxisome oxidative status' 'mulibrey nanism' SubClassOf 'disorder of development or morphogenesis' 'mulibrey nanism' SubClassOf 'syndromic disease' 'mulibrey nanism' SubClassOf 'autosomal recessive disease' 'mulibrey nanism' SubClassOf 'disorder of defective peroxisome oxidative status' http://purl.obolibrary.org/obo/MONDO_0010657 methylmalonic acidemia with homocystinuria, type cblX 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'non-syndromic X-linked intellectual disability' 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 'mucopolysaccharidosis type 7' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 7' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0010659 FRAXE intellectual disability 'FRAXE intellectual disability' SubClassOf 'non-syndromic X-linked intellectual disability' 'FRAXE intellectual disability' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 'mucopolysaccharidosis type 6' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 6' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 6' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 6' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 6' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 6' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0009660 mucopolysaccharidosis type 4B 'mucopolysaccharidosis type 4B' SubClassOf 'mucopolysaccharidosis type 4' 'mucopolysaccharidosis type 4B' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 4B' SubClassOf 'mucopolysaccharidosis type 4' 'mucopolysaccharidosis type 4B' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0009670 lethal congenital contracture syndrome 1 'lethal congenital contracture syndrome 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 1' SubClassOf 'syndromic disease' 'lethal congenital contracture syndrome 1' SubClassOf 'lethal congenital contracture syndrome' 'lethal congenital contracture syndrome 1' SubClassOf 'thoracic malformation' 'lethal congenital contracture syndrome 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 1' SubClassOf 'syndromic disease' 'lethal congenital contracture syndrome 1' SubClassOf 'lethal congenital contracture syndrome' 'lethal congenital contracture syndrome 1' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0010650 Melnick-Needles syndrome 'Melnick-Needles syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Melnick-Needles syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'Melnick-Needles syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Melnick-Needles syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0010652 X-linked intellectual disability-seizures-psoriasis syndrome 'X-linked intellectual disability-seizures-psoriasis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-seizures-psoriasis syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease 'Menkes disease' SubClassOf 'disorder of copper metabolism' 'Menkes disease' SubClassOf 'syndromic disease' 'Menkes disease' SubClassOf 'inborn metal metabolism disorder' 'Menkes disease' SubClassOf 'disorder of copper metabolism' 'Menkes disease' SubClassOf 'syndromic disease' 'Menkes disease' SubClassOf 'inborn metal metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0010654 Partington syndrome 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010653 Renpenning syndrome 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009679 arthrogryposis due to muscular dystrophy 'arthrogryposis due to muscular dystrophy' SubClassOf 'congenital muscular dystrophy' 'arthrogryposis due to muscular dystrophy' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis due to muscular dystrophy' SubClassOf 'congenital muscular dystrophy' 'arthrogryposis due to muscular dystrophy' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0009678 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4' SubClassOf 'myopathy caused by variation in FKTN' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4' SubClassOf 'myopathy caused by variation in FKTN' http://purl.obolibrary.org/obo/MONDO_0010667 Prieto syndrome 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009677 autosomal recessive limb-girdle muscular dystrophy type 2C 'autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'qualitative or quantitative defects of gamma-sarcoglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2C' SubClassOf 'qualitative or quantitative defects of gamma-sarcoglycan' http://purl.obolibrary.org/obo/MONDO_0009676 autosomal recessive limb-girdle muscular dystrophy type 2B 'autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'qualitative or quantitative defects of dysferlin' 'autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2B' SubClassOf 'qualitative or quantitative defects of dysferlin' http://purl.obolibrary.org/obo/MONDO_0010669 syndactyly type 8 'syndactyly type 8' SubClassOf 'non-syndromic syndactyly' 'syndactyly type 8' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0009675 autosomal recessive limb-girdle muscular dystrophy type 2A 'autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2A' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010668 skeletal dysplasia-intellectual disability syndrome 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'spondylodysplastic dysplasia' 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009673 spinal muscular atrophy, type II 'spinal muscular atrophy, type II' SubClassOf 'proximal spinal muscular atrophy' 'spinal muscular atrophy, type II' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009672 spinal muscular atrophy, type III 'spinal muscular atrophy, type III' SubClassOf 'proximal spinal muscular atrophy' 'spinal muscular atrophy, type III' SubClassOf 'proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome 'intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf 'congenital myopathy' 'intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0009680 congenital muscular dystrophy-infantile cataract-hypogonadism syndrome 'congenital muscular dystrophy-infantile cataract-hypogonadism syndrome' SubClassOf 'congenital muscular dystrophy' 'congenital muscular dystrophy-infantile cataract-hypogonadism syndrome' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010661 severe X-linked intellectual disability, Gustavson type 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010663 intellectual disability-hypotonic facies syndrome, X-linked, 1 'intellectual disability-hypotonic facies syndrome, X-linked, 1' SubClassOf 'ATR-X-related syndrome' 'intellectual disability-hypotonic facies syndrome, X-linked, 1' SubClassOf 'ATR-X-related syndrome' http://purl.obolibrary.org/obo/MONDO_0010662 paraplegia-intellectual disability-hyperkeratosis syndrome 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'syndromic disease' 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010665 Wilson-Turner syndrome 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010664 syndromic X-linked intellectual disability Snyder type 'syndromic X-linked intellectual disability Snyder type' SubClassOf 'disorder of polyamine metabolism' 'syndromic X-linked intellectual disability Snyder type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Snyder type' SubClassOf 'disorder of polyamine metabolism' 'syndromic X-linked intellectual disability Snyder type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy 'Duchenne muscular dystrophy' SubClassOf 'muscular dystrophy' 'Duchenne muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009685 Miyoshi myopathy 'Miyoshi myopathy' SubClassOf 'distal myopathy' 'Miyoshi myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0009683 autosomal recessive limb-girdle muscular dystrophy type 2H 'autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'qualitative or quantitative defects of TRIM32' 'autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2H' SubClassOf 'qualitative or quantitative defects of TRIM32' http://purl.obolibrary.org/obo/MONDO_0010670 X-linked intellectual disability-spastic quadriparesis syndrome 'X-linked intellectual disability-spastic quadriparesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-spastic quadriparesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010672 linear skin defects with multiple congenital anomalies 'linear skin defects with multiple congenital anomalies' SubClassOf 'mixed dermis disorder' 'linear skin defects with multiple congenital anomalies' SubClassOf 'syndromic microphthalmia' 'linear skin defects with multiple congenital anomalies' SubClassOf 'mixed dermis disorder' 'linear skin defects with multiple congenital anomalies' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0019008 benign recurrent intrahepatic cholestasis 'benign recurrent intrahepatic cholestasis' SubClassOf 'familial intrahepatic cholestasis' 'benign recurrent intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' 'benign recurrent intrahepatic cholestasis' SubClassOf 'familial intrahepatic cholestasis' 'benign recurrent intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' http://purl.obolibrary.org/obo/MONDO_0010674 mucopolysaccharidosis type 2 'mucopolysaccharidosis type 2' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 2' SubClassOf 'syndromic disease' 'mucopolysaccharidosis type 2' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 2' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019009 isolated focal cortical dysplasia 'isolated focal cortical dysplasia' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'isolated focal cortical dysplasia' SubClassOf 'cerebral cortical dysplasia' 'isolated focal cortical dysplasia' SubClassOf 'cerebral cortical dysplasia' 'isolated focal cortical dysplasia' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor 'kidney Wilms tumor' SubClassOf 'Wilms tumor' 'kidney Wilms tumor' SubClassOf 'Wilms tumor' http://purl.obolibrary.org/obo/MONDO_0019003 multiple endocrine neoplasia type 2 'multiple endocrine neoplasia type 2' SubClassOf 'thyroid carcinoma' 'multiple endocrine neoplasia type 2' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 2' SubClassOf 'thyroid carcinoma' 'multiple endocrine neoplasia type 2' SubClassOf 'multiple endocrine neoplasia' http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome 'familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'idiopathic nephrotic syndrome' 'familial idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'idiopathic nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0019005 nephronophthisis 'nephronophthisis' SubClassOf 'autosomal recessive disease' 'nephronophthisis' SubClassOf 'inherited renal tubular disease' 'nephronophthisis' SubClassOf 'autosomal recessive disease' 'nephronophthisis' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0019002 Lhermitte-Duclos disease 'Lhermitte-Duclos disease' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Lhermitte-Duclos disease' SubClassOf 'mixed neuronal-glial tumor' 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'Lhermitte-Duclos disease' SubClassOf 'mixed neuronal-glial tumor' http://purl.obolibrary.org/obo/MONDO_0010689 Charcot-Marie-Tooth disease X-linked recessive 4 'Charcot-Marie-Tooth disease X-linked recessive 4' SubClassOf 'Charcot-Marie-Tooth disease type X' 'Charcot-Marie-Tooth disease X-linked recessive 4' SubClassOf 'Charcot-Marie-Tooth disease type X' http://purl.obolibrary.org/obo/MONDO_0009699 action myoclonus-renal failure syndrome 'action myoclonus-renal failure syndrome' SubClassOf 'progressive myoclonus epilepsy' 'action myoclonus-renal failure syndrome' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0009698 Unverricht-Lundborg syndrome 'Unverricht-Lundborg syndrome' SubClassOf 'progressive myoclonus epilepsy' 'Unverricht-Lundborg syndrome' SubClassOf 'movement disorder' 'Unverricht-Lundborg syndrome' SubClassOf 'progressive myoclonus epilepsy' 'Unverricht-Lundborg syndrome' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease 'Lafora disease' SubClassOf 'movement disorder' 'Lafora disease' SubClassOf 'disorder of glycogen metabolism' 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' 'Lafora disease' SubClassOf 'movement disorder' 'Lafora disease' SubClassOf 'disorder of glycogen metabolism' 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0009696 juvenile myoclonic epilepsy 'juvenile myoclonic epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'juvenile myoclonic epilepsy' SubClassOf 'movement disorder' 'juvenile myoclonic epilepsy' SubClassOf 'familial partial epilepsy' 'juvenile myoclonic epilepsy' SubClassOf 'adolescence-adult electroclinical syndrome' 'juvenile myoclonic epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' 'juvenile myoclonic epilepsy' SubClassOf 'movement disorder' 'juvenile myoclonic epilepsy' SubClassOf 'familial partial epilepsy' 'juvenile myoclonic epilepsy' SubClassOf 'adolescence-adult electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0020010 infectious disorder of the nervous system 'infectious disorder of the nervous system' SubClassOf 'nervous system disease' 'infectious disorder of the nervous system' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0009694 myeloperoxidase deficiency 'myeloperoxidase deficiency' SubClassOf 'functional neutrophil defect' 'myeloperoxidase deficiency' SubClassOf 'functional neutrophil defect' http://purl.obolibrary.org/obo/HP_0003236 Elevated circulating creatine kinase concentration 'Elevated circulating creatine kinase concentration' SubClassOf http://purl.obolibrary.org/obo/HP_0011021 http://purl.obolibrary.org/obo/MONDO_0010680 X-linked Emery-Dreifuss muscular dystrophy 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'laminopathy' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'laminopathy' 'X-linked Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010683 X-linked myotubular myopathy 'X-linked myotubular myopathy' SubClassOf 'centronuclear myopathy' 'X-linked myotubular myopathy' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0019019 osteogenesis imperfecta 'osteogenesis imperfecta' SubClassOf 'osteochondrodysplasia' 'osteogenesis imperfecta' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0010684 X-linked myopathy with excessive autophagy 'X-linked myopathy with excessive autophagy' SubClassOf 'progressive muscular dystrophy' 'X-linked myopathy with excessive autophagy' SubClassOf 'hereditary inclusion-body myopathy' 'X-linked myopathy with excessive autophagy' SubClassOf 'progressive muscular dystrophy' 'X-linked myopathy with excessive autophagy' SubClassOf 'hereditary inclusion-body myopathy' http://purl.obolibrary.org/obo/MONDO_0010686 N syndrome 'N syndrome' SubClassOf 'hereditary neoplastic syndrome' 'N syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'N syndrome' SubClassOf 'hereditary neoplastic syndrome' 'N syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019017 short fifth metacarpals-insulin resistance syndrome 'short fifth metacarpals-insulin resistance syndrome' SubClassOf 'syndromic disease' 'short fifth metacarpals-insulin resistance syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019016 maternally-inherited progressive external ophthalmoplegia 'maternally-inherited progressive external ophthalmoplegia' SubClassOf 'inborn mitochondrial myopathy' 'maternally-inherited progressive external ophthalmoplegia' SubClassOf 'disorder of visual system' 'maternally-inherited progressive external ophthalmoplegia' SubClassOf 'inborn mitochondrial myopathy' 'maternally-inherited progressive external ophthalmoplegia' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0019011 Charcot-Marie-Tooth disease type 1 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0019010 congenital isolated hyperinsulinism 'congenital isolated hyperinsulinism' SubClassOf 'islet cell adenomatosis' 'congenital isolated hyperinsulinism' SubClassOf 'overgrowth syndrome' 'congenital isolated hyperinsulinism' SubClassOf 'familial hyperinsulinism' 'congenital isolated hyperinsulinism' SubClassOf 'islet cell adenomatosis' 'congenital isolated hyperinsulinism' SubClassOf 'overgrowth syndrome' 'congenital isolated hyperinsulinism' SubClassOf 'familial hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0019012 Carpenter syndrome 'Carpenter syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Carpenter syndrome' SubClassOf 'acrocephalopolysyndactyly' 'Carpenter syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Carpenter syndrome' SubClassOf 'acrocephalopolysyndactyly' http://purl.obolibrary.org/obo/MONDO_0019031 thrombocytopenia with congenital dyserythropoietic anemia 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'GATA1-Related X-Linked Cytopenia' 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'congenital dyserythropoietic anemia' 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'GATA1-Related X-Linked Cytopenia' 'thrombocytopenia with congenital dyserythropoietic anemia' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0010699 Charcot-Marie-Tooth disease X-linked recessive 5 'Charcot-Marie-Tooth disease X-linked recessive 5' SubClassOf 'Charcot-Marie-Tooth disease type X' 'Charcot-Marie-Tooth disease X-linked recessive 5' SubClassOf 'inborn disorder of purine metabolism' 'Charcot-Marie-Tooth disease X-linked recessive 5' SubClassOf 'Charcot-Marie-Tooth disease type X' 'Charcot-Marie-Tooth disease X-linked recessive 5' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation 'respiratory or thoracic malformation' SubClassOf 'respiratory system disease' 'respiratory or thoracic malformation' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010691 Norrie disease 'Norrie disease' SubClassOf 'congenital vitreoretinal dysplasia' 'Norrie disease' SubClassOf 'congenital vitreoretinal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010693 nystagmus 1, congenital, X-linked 'nystagmus 1, congenital, X-linked' SubClassOf 'congenital nystagmus' 'nystagmus 1, congenital, X-linked' SubClassOf 'congenital nystagmus' http://purl.obolibrary.org/obo/MONDO_0010698 optic atrophy 2 'optic atrophy 2' SubClassOf 'hereditary optic atrophy' 'optic atrophy 2' SubClassOf 'hereditary optic atrophy' http://purl.obolibrary.org/obo/MONDO_0019026 autosomal recessive osteopetrosis 'autosomal recessive osteopetrosis' SubClassOf 'hereditary optic neuropathy' 'autosomal recessive osteopetrosis' SubClassOf 'osteopetrosis' 'autosomal recessive osteopetrosis' SubClassOf 'hereditary optic neuropathy' 'autosomal recessive osteopetrosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0019027 otopalatodigital syndrome 'otopalatodigital syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'otopalatodigital syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0019022 sensorineural hearing loss-early graying-essential tremor syndrome 'sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf 'movement disorder' 'sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome 'multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'developmental defect during embryogenesis' 'multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0019037 progressive supranuclear palsy 'progressive supranuclear palsy' SubClassOf 'supranuclear oculomotor palsy' 'progressive supranuclear palsy' SubClassOf 'syndromic disease' 'progressive supranuclear palsy' SubClassOf 'supranuclear oculomotor palsy' 'progressive supranuclear palsy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019033 primary cutis verticis gyrata 'primary cutis verticis gyrata' SubClassOf 'dermis disorder' 'primary cutis verticis gyrata' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0019032 X-linked intellectual disability with isolated growth hormone deficiency 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability with isolated growth hormone deficiency' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019034 accessory pancreas 'accessory pancreas' SubClassOf 'pancreas disease' 'accessory pancreas' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy 'inherited hemoglobinopathy' SubClassOf 'hemoglobinopathy' 'inherited hemoglobinopathy' SubClassOf 'hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease 'peroxisomal disease' SubClassOf 'inborn errors of metabolism' 'peroxisomal disease' SubClassOf 'metabolic epilepsy' 'peroxisomal disease' SubClassOf 'inborn errors of metabolism' 'peroxisomal disease' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism 'inborn errors of metabolism' SubClassOf 'genetic disorder' 'inborn errors of metabolism' SubClassOf 'metabolic disease' 'inborn errors of metabolism' SubClassOf 'genetic disorder' 'inborn errors of metabolism' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation 'central nervous system malformation' SubClassOf 'developmental defect during embryogenesis' 'central nervous system malformation' SubClassOf 'nervous system disease' 'central nervous system malformation' SubClassOf 'developmental defect during embryogenesis' 'central nervous system malformation' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy 'leukodystrophy' SubClassOf 'disease has major feature' some 'CNS hypomyelination' 'leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'CNS hypomyelination' http://www.ebi.ac.uk/efo/EFO_1001272 bacterial pneumonia 'bacterial pneumonia' SubClassOf 'bacterial disease' 'bacterial pneumonia' SubClassOf 'pneumonia' 'bacterial pneumonia' SubClassOf 'bacterial disease' 'bacterial pneumonia' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/MONDO_0019064 hereditary spastic paraplegia 'hereditary spastic paraplegia' SubClassOf 'hereditary neuromuscular disease' 'hereditary spastic paraplegia' SubClassOf 'inherited neurodegenerative disorder' 'hereditary spastic paraplegia' SubClassOf 'paraplegia' 'hereditary spastic paraplegia' SubClassOf 'hereditary neuromuscular disease' 'hereditary spastic paraplegia' SubClassOf 'inherited neurodegenerative disorder' 'hereditary spastic paraplegia' SubClassOf 'paraplegia' http://purl.obolibrary.org/obo/MONDO_0020058 gonosome anomaly 'gonosome anomaly' SubClassOf 'chromosomal disorder' 'gonosome anomaly' SubClassOf 'chromosomal disorder' http://www.ebi.ac.uk/efo/EFO_1001279 Brown-Sequard Syndrome 'Brown-Sequard Syndrome' SubClassOf 'syndromic disease' 'Brown-Sequard Syndrome' SubClassOf 'paraplegia' 'Brown-Sequard Syndrome' SubClassOf 'syndromic disease' 'Brown-Sequard Syndrome' SubClassOf 'paraplegia' http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation 'congenital limb malformation' SubClassOf 'developmental defect during embryogenesis' 'congenital limb malformation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0020040 46,XY disorder of sex development '46,XY disorder of sex development' SubClassOf 'disorder of sexual differentiation' '46,XY disorder of sex development' SubClassOf 'disorder of sexual differentiation' http://www.ebi.ac.uk/efo/EFO_1001284 capillary leak syndrome 'capillary leak syndrome' SubClassOf 'syndromic disease' 'capillary leak syndrome' SubClassOf 'capillary disorder' 'capillary leak syndrome' SubClassOf 'syndromic disease' 'capillary leak syndrome' SubClassOf 'capillary disorder' http://purl.obolibrary.org/obo/MONDO_0019072 intrahepatic cholestasis 'intrahepatic cholestasis' SubClassOf 'cholestasis' 'intrahepatic cholestasis' SubClassOf 'cholestasis' http://purl.obolibrary.org/obo/MONDO_0019075 Bosley-Salih-Alorainy syndrome 'Bosley-Salih-Alorainy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0019071 pure hair and nail ectodermal dysplasia 'pure hair and nail ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'pure hair and nail ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0020047 autosomal recessive syndromic cerebellar ataxia 'autosomal recessive syndromic cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive syndromic cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0020046 autosomal recessive degenerative and progressive cerebellar ataxia 'autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive degenerative and progressive cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0020044 autosomal recessive metabolic cerebellar ataxia 'autosomal recessive metabolic cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive metabolic cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_1001288 Chlamydiaceae Infections 'Chlamydiaceae Infections' SubClassOf 'gram-negative bacterial infections' 'Chlamydiaceae Infections' SubClassOf 'gram-negative bacterial infections' http://purl.obolibrary.org/obo/MONDO_0020043 autosomal recessive congenital cerebellar ataxia 'autosomal recessive congenital cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive congenital cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_1001286 Caroli Disease 'Caroli Disease' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'Caroli Disease' SubClassOf 'Non-Neoplastic Bile Duct Disorder' http://www.ebi.ac.uk/efo/EFO_1001285 Cardiac Tamponade 'Cardiac Tamponade' SubClassOf 'pericardial effusion' 'Cardiac Tamponade' SubClassOf 'pericardial effusion' http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly 'autosomal anomaly' SubClassOf 'chromosomal disorder' 'autosomal anomaly' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization 'congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'glomerular disease' 'congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/MONDO_0020073 adolescent-onset epilepsy syndrome 'adolescent-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' 'adolescent-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_1001295 microscopic colitis 'microscopic colitis' SubClassOf 'colitis' 'microscopic colitis' SubClassOf 'colitis' http://purl.obolibrary.org/obo/MONDO_0020072 childhood-onset epilepsy syndrome 'childhood-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' 'childhood-onset epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019083 Leigh syndrome with cardiomyopathy 'Leigh syndrome with cardiomyopathy' SubClassOf 'Leigh syndrome' 'Leigh syndrome with cardiomyopathy' SubClassOf 'Leigh syndrome' http://www.ebi.ac.uk/efo/EFO_1001294 lymphocytic colitis 'lymphocytic colitis' SubClassOf 'microscopic colitis' 'lymphocytic colitis' SubClassOf 'microscopic colitis' http://purl.obolibrary.org/obo/MONDO_0020071 infantile epilepsy syndrome 'infantile epilepsy syndrome' SubClassOf 'epilepsy syndrome' 'infantile epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_1001293 collagenous colitis 'collagenous colitis' SubClassOf 'microscopic colitis' 'collagenous colitis' SubClassOf 'microscopic colitis' http://purl.obolibrary.org/obo/MONDO_0020070 neonatal epilepsy syndrome 'neonatal epilepsy syndrome' SubClassOf 'epilepsy syndrome' 'neonatal epilepsy syndrome' SubClassOf 'epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019080 alopecia totalis 'alopecia totalis' SubClassOf 'alopecia' 'alopecia totalis' SubClassOf 'alopecia' http://www.ebi.ac.uk/efo/EFO_1001291 ciguatera poisoning 'ciguatera poisoning' SubClassOf 'poisoning' 'ciguatera poisoning' SubClassOf 'poisoning' http://www.ebi.ac.uk/efo/EFO_1001290 chorea gravidarum 'chorea gravidarum' SubClassOf 'chorea' 'chorea gravidarum' SubClassOf 'chorea' http://purl.obolibrary.org/obo/MONDO_0020077 myelodysplastic/myeloproliferative disease 'myelodysplastic/myeloproliferative disease' SubClassOf 'myeloid hemopathy' 'myelodysplastic/myeloproliferative disease' SubClassOf 'myeloid hemopathy' http://www.ebi.ac.uk/efo/EFO_1001298 Coxa Vara 'Coxa Vara' SubClassOf 'genetic disorder' 'Coxa Vara' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy 'progressive myoclonus epilepsy' SubClassOf 'variable age onset epilepsy' 'progressive myoclonus epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'progressive myoclonus epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' 'progressive myoclonus epilepsy' SubClassOf 'variable age onset epilepsy' 'progressive myoclonus epilepsy' SubClassOf 'childhood-onset epilepsy syndrome' 'progressive myoclonus epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0044001 hearing loss, mixed conductive-sensorineural 'hearing loss, mixed conductive-sensorineural' SubClassOf 'hearing loss' 'hearing loss, mixed conductive-sensorineural' SubClassOf 'hearing loss' http://purl.obolibrary.org/obo/MONDO_0019079 proximal spinal muscular atrophy 'proximal spinal muscular atrophy' SubClassOf 'hereditary peripheral neuropathy' 'proximal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'proximal spinal muscular atrophy' SubClassOf 'hereditary peripheral neuropathy' 'proximal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0019078 Ritscher-Schinzel syndrome 'Ritscher-Schinzel syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Ritscher-Schinzel syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ritscher-Schinzel syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'Ritscher-Schinzel syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019091 bronchopulmonary dysplasia 'bronchopulmonary dysplasia' SubClassOf 'respiratory system disease' 'bronchopulmonary dysplasia' SubClassOf 'disorder of development or morphogenesis' 'bronchopulmonary dysplasia' SubClassOf 'respiratory system disease' 'bronchopulmonary dysplasia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency 'immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'immunodeficiency disease' 'immunodeficiency due to selective anti-polysaccharide antibody deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0020067 infectious encephalitis 'infectious encephalitis' SubClassOf 'encephalitis' 'infectious encephalitis' SubClassOf 'central nervous system infection' 'infectious encephalitis' SubClassOf 'encephalitis' 'infectious encephalitis' SubClassOf 'central nervous system infection' http://purl.obolibrary.org/obo/MONDO_0020066 Ehlers-Danlos syndrome 'Ehlers-Danlos syndrome' SubClassOf 'syndromic disease' 'Ehlers-Danlos syndrome' SubClassOf 'developmental defect during embryogenesis' 'Ehlers-Danlos syndrome' SubClassOf 'syndromic disease' 'Ehlers-Danlos syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0020065 combined dystonia 'combined dystonia' SubClassOf 'inherited dystonia' 'combined dystonia' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0019088 post-transplant lymphoproliferative disease 'post-transplant lymphoproliferative disease' SubClassOf 'disease related to transplantation' 'post-transplant lymphoproliferative disease' SubClassOf 'disease related to transplantation' http://purl.obolibrary.org/obo/MONDO_0020099 inherited sideroblastic anemia 'inherited sideroblastic anemia' SubClassOf 'sideroblastic anemia' 'inherited sideroblastic anemia' SubClassOf 'sideroblastic anemia' http://purl.obolibrary.org/obo/MONDO_0019098 autoimmune thrombocytopenia 'autoimmune thrombocytopenia' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune thrombocytopenia' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0020082 dendritic cell tumor 'dendritic cell tumor' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' 'dendritic cell tumor' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' http://purl.obolibrary.org/obo/MONDO_0020088 familial partial lipodystrophy 'familial partial lipodystrophy' SubClassOf 'hereditary lipodystrophy' 'familial partial lipodystrophy' SubClassOf 'laminopathy' 'familial partial lipodystrophy' SubClassOf 'partial lipodystrophy' 'familial partial lipodystrophy' SubClassOf 'hereditary lipodystrophy' 'familial partial lipodystrophy' SubClassOf 'laminopathy' 'familial partial lipodystrophy' SubClassOf 'partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0020087 hereditary lipodystrophy 'hereditary lipodystrophy' SubClassOf 'lipodystrophy' 'hereditary lipodystrophy' SubClassOf 'lipodystrophy' http://www.ebi.ac.uk/efo/EFO_1001435 tenosynovitis 'tenosynovitis' SubClassOf 'joint disease' 'tenosynovitis' SubClassOf 'tendinitis' 'tenosynovitis' SubClassOf 'joint disease' 'tenosynovitis' SubClassOf 'tendinitis' http://www.ebi.ac.uk/efo/EFO_1001434 Tendinopathy 'Tendinopathy' SubClassOf 'connective tissue disease' 'Tendinopathy' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_1001431 suppurative thyroiditis 'suppurative thyroiditis' SubClassOf 'thyroiditis' 'suppurative thyroiditis' SubClassOf 'thyroiditis' http://www.ebi.ac.uk/efo/EFO_1001430 Sublingual Gland Neoplasms 'Sublingual Gland Neoplasms' SubClassOf 'neoplasm of major salivary gland' 'Sublingual Gland Neoplasms' SubClassOf 'neoplasm of major salivary gland' http://www.ebi.ac.uk/efo/EFO_1001437 Tracheal neoplasm 'Tracheal neoplasm' SubClassOf 'tracheal disorder' 'Tracheal neoplasm' SubClassOf 'tracheal disorder' http://www.ebi.ac.uk/efo/EFO_1001446 Uterine Inversion 'Uterine Inversion' SubClassOf 'uterine disorder' 'Uterine Inversion' SubClassOf 'uterine disorder' http://www.ebi.ac.uk/efo/EFO_1001445 Tungiasis 'Tungiasis' SubClassOf 'parasitic ectoparasitic infectious disease' 'Tungiasis' SubClassOf 'vector-borne disease' 'Tungiasis' SubClassOf 'parasitic ectoparasitic infectious disease' 'Tungiasis' SubClassOf 'vector-borne disease' http://www.ebi.ac.uk/efo/EFO_1001444 Tularemia 'Tularemia' SubClassOf 'vector-borne disease' 'Tularemia' SubClassOf 'primary bacterial infectious disease' 'Tularemia' SubClassOf 'vector-borne disease' 'Tularemia' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_1001443 Tuberculosis, Cutaneous 'Tuberculosis, Cutaneous' SubClassOf 'placenta neoplasm' 'Tuberculosis, Cutaneous' SubClassOf 'placenta neoplasm' http://www.ebi.ac.uk/efo/EFO_1001442 cardiac tuberculosis 'cardiac tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'cardiac tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_1001447 Vaginal neoplasm 'Vaginal neoplasm' SubClassOf 'female reproductive system neoplasm' 'Vaginal neoplasm' SubClassOf 'vaginal disorder' 'Vaginal neoplasm' SubClassOf 'female reproductive system neoplasm' 'Vaginal neoplasm' SubClassOf 'vaginal disorder' http://www.ebi.ac.uk/efo/EFO_1001456 central nervous system infection 'central nervous system infection' SubClassOf 'infectious disorder of the nervous system' 'central nervous system infection' SubClassOf 'central nervous system disease' 'central nervous system infection' SubClassOf 'infectious disorder of the nervous system' 'central nervous system infection' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001452 Yellow Nail Syndrome 'Yellow Nail Syndrome' SubClassOf 'primary lymphedema' 'Yellow Nail Syndrome' SubClassOf 'syndromic disease' 'Yellow Nail Syndrome' SubClassOf 'primary lymphedema' 'Yellow Nail Syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001451 X-Linked Combined Immunodeficiency Diseases 'X-Linked Combined Immunodeficiency Diseases' SubClassOf 'T-B+ severe combined immunodeficiency' 'X-Linked Combined Immunodeficiency Diseases' SubClassOf 'T-B+ severe combined immunodeficiency' http://www.ebi.ac.uk/efo/EFO_1001450 Wolff-Parkinson-White Syndrome 'Wolff-Parkinson-White Syndrome' SubClassOf 'heart conduction disease' 'Wolff-Parkinson-White Syndrome' SubClassOf 'PRKAG2-related cardiomyopathy' 'Wolff-Parkinson-White Syndrome' SubClassOf 'heart conduction disease' 'Wolff-Parkinson-White Syndrome' SubClassOf 'PRKAG2-related cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1001467 Hypereosinophilic syndrome 'Hypereosinophilic syndrome' SubClassOf 'Non-familial restrictive cardiomyopathy' 'Hypereosinophilic syndrome' SubClassOf 'disease has major feature' some 'Eosinophilia' 'Hypereosinophilic syndrome' SubClassOf 'syndromic disease' 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Eosinophilia') 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Eosinophilia') 'Hypereosinophilic syndrome' SubClassOf 'Non-familial restrictive cardiomyopathy' 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Eosinophilia' 'Hypereosinophilic syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001463 gastroenteritis 'gastroenteritis' SubClassOf 'intestinal disease' 'gastroenteritis' SubClassOf 'inflammatory disease' 'gastroenteritis' SubClassOf 'intestinal disease' 'gastroenteritis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001462 erysipelas 'erysipelas' SubClassOf 'skin infection' 'erysipelas' SubClassOf 'skin infection' http://www.ebi.ac.uk/efo/EFO_1001469 Mantle cell lymphoma 'Mantle cell lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' 'Mantle cell lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' http://www.ebi.ac.uk/efo/EFO_1001476 streptococcal infection 'streptococcal infection' SubClassOf 'gram-positive bacterial infections' 'streptococcal infection' SubClassOf 'gram-positive bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001475 schistosomiasis 'schistosomiasis' SubClassOf 'Helminthiasis' 'schistosomiasis' SubClassOf 'vector-borne disease' 'schistosomiasis' SubClassOf 'Helminthiasis' 'schistosomiasis' SubClassOf 'vector-borne disease' http://www.ebi.ac.uk/efo/EFO_1001473 Non-familial restrictive cardiomyopathy 'Non-familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' 'Non-familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1001472 Myelitis 'Myelitis' SubClassOf 'spinal cord disease' 'Myelitis' SubClassOf 'spinal cord disease' http://www.ebi.ac.uk/efo/EFO_1001481 enterocolitis 'enterocolitis' SubClassOf 'genetic disorder' 'enterocolitis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001486 primary biliary cirrhosis 'primary biliary cirrhosis' SubClassOf 'biliary tract disease' 'primary biliary cirrhosis' SubClassOf 'biliary tract disease' http://www.ebi.ac.uk/efo/EFO_1001485 acromegaly 'acromegaly' SubClassOf 'hyperpituitarism' 'acromegaly' SubClassOf 'hyperpituitarism' http://www.ebi.ac.uk/efo/EFO_1001484 pain agnosia 'pain agnosia' SubClassOf 'agnosia' 'pain agnosia' SubClassOf 'agnosia' http://www.ebi.ac.uk/efo/EFO_1001490 late-onset myasthenia gravis 'late-onset myasthenia gravis' SubClassOf 'Myasthenia gravis' 'late-onset myasthenia gravis' SubClassOf 'Myasthenia gravis' http://www.ebi.ac.uk/efo/EFO_1001496 Autosomal dominant polycystic kidney disease 'Autosomal dominant polycystic kidney disease' SubClassOf 'autosomal dominant disease' 'Autosomal dominant polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' 'Autosomal dominant polycystic kidney disease' SubClassOf 'autosomal dominant disease' 'Autosomal dominant polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' http://purl.obolibrary.org/obo/MONDO_0009507 Lambert syndrome 'Lambert syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Lambert syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009506 specific granule deficiency 'specific granule deficiency' SubClassOf 'functional neutrophil defect' 'specific granule deficiency' SubClassOf 'functional neutrophil defect' http://purl.obolibrary.org/obo/MONDO_0009505 lactic aciduria due to D-lactic acid 'lactic aciduria due to D-lactic acid' SubClassOf 'disorder of glycolysis' 'lactic aciduria due to D-lactic acid' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0009504 mitochondrial DNA depletion syndrome 9 'mitochondrial DNA depletion syndrome 9' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' 'mitochondrial DNA depletion syndrome 9' SubClassOf 'lactic acidosis' 'mitochondrial DNA depletion syndrome 9' SubClassOf 'mitochondrial DNA depletion syndrome, encephalomyopathic form' 'mitochondrial DNA depletion syndrome 9' SubClassOf 'lactic acidosis' http://purl.obolibrary.org/obo/MONDO_0009503 pyruvate dehydrogenase E3-binding protein deficiency 'pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'pyruvate dehydrogenase E3-binding protein deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0009502 pyruvate dehydrogenase E2 deficiency 'pyruvate dehydrogenase E2 deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'pyruvate dehydrogenase E2 deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://www.ebi.ac.uk/efo/EFO_1001402 postencephalitic Parkinson disease 'postencephalitic Parkinson disease' SubClassOf 'parkinsonian disorder' 'postencephalitic Parkinson disease' SubClassOf 'disease has major feature' some 'dementia' 'postencephalitic Parkinson disease' SubClassOf 'secondary Parkinson disease' 'postencephalitic Parkinson disease' SubClassOf 'parkinsonian disorder' 'postencephalitic Parkinson disease' SubClassOf 'secondary Parkinson disease' 'postencephalitic Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0009501 metabolic myopathy due to lactate transporter defect 'metabolic myopathy due to lactate transporter defect' SubClassOf 'metabolic myopathy' 'metabolic myopathy due to lactate transporter defect' SubClassOf 'metabolic myopathy' http://purl.obolibrary.org/obo/MONDO_0009500 kuru, susceptibility to 'kuru, susceptibility to' SubClassOf 'predisposes towards' some 'kuru' 'kuru, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'kuru' http://www.ebi.ac.uk/efo/EFO_1001403 postpartum thyroiditis 'postpartum thyroiditis' SubClassOf 'autoimmune thyroid disease' 'postpartum thyroiditis' SubClassOf 'autoimmune thyroid disease' http://purl.obolibrary.org/obo/MONDO_0009517 Donohue syndrome 'Donohue syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Donohue syndrome' SubClassOf 'syndromic disease' 'Donohue syndrome' SubClassOf 'autosomal recessive disease' 'Donohue syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Donohue syndrome' SubClassOf 'syndromic disease' 'Donohue syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009516 absence deformity of leg-cataract syndrome 'absence deformity of leg-cataract syndrome' SubClassOf 'genetic disorder' 'absence deformity of leg-cataract syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009515 Norum disease 'Norum disease' SubClassOf 'LCAT deficiency' 'Norum disease' SubClassOf 'hypolipoproteinemia' 'Norum disease' SubClassOf 'LCAT deficiency' 'Norum disease' SubClassOf 'hypolipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0009514 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'syndromic disease' 'Laurence-Moon syndrome' SubClassOf 'autosomal recessive disease' 'Laurence-Moon syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Laurence-Moon syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Laurence-Moon syndrome' SubClassOf 'syndromic disease' 'Laurence-Moon syndrome' SubClassOf 'autosomal recessive disease' 'Laurence-Moon syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Laurence-Moon syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0009513 laryngo-onycho-cutaneous syndrome 'laryngo-onycho-cutaneous syndrome' SubClassOf 'syndromic disease' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'junctional epidermolysis bullosa' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'respiratory system disease' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'syndromic disease' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'junctional epidermolysis bullosa' 'laryngo-onycho-cutaneous syndrome' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010502 intellectual disability, X-linked 99, syndromic, female-restricted 'intellectual disability, X-linked 99, syndromic, female-restricted' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked 99, syndromic, female-restricted' SubClassOf 'X-linked syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001413 Respiratory Syncytial Virus Infection 'Respiratory Syncytial Virus Infection' SubClassOf 'viral respiratory tract infection' 'Respiratory Syncytial Virus Infection' SubClassOf 'viral respiratory tract infection' http://purl.obolibrary.org/obo/MONDO_0009512 lethal Larsen-like syndrome 'lethal Larsen-like syndrome' SubClassOf 'developmental defect during embryogenesis' 'lethal Larsen-like syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0010501 syndromic X-linked intellectual disability 34 'syndromic X-linked intellectual disability 34' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability 34' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 34' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability 34' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009511 Larsen-like syndrome, B3GAT3 type 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'skeletal dysplasia' 'Larsen-like syndrome, B3GAT3 type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010504 immunodeficiency 47 'immunodeficiency 47' SubClassOf 'inborn error of immunity' 'immunodeficiency 47' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0010505 intellectual disability-balding-patella luxation-acromicria syndrome 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'acromelic dysplasia' 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0010507 Xq25 microduplication syndrome 'Xq25 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome X' 'Xq25 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome X' http://www.ebi.ac.uk/efo/EFO_1001417 Rhinitis, Allergic, Perennial 'Rhinitis, Allergic, Perennial' SubClassOf 'allergic rhinitis' 'Rhinitis, Allergic, Perennial' SubClassOf 'allergic rhinitis' http://purl.obolibrary.org/obo/MONDO_0010500 intellectual disability, X-linked, syndromic 33 'intellectual disability, X-linked, syndromic 33' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked, syndromic 33' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009529 pyruvate dehydrogenase E3 deficiency 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'maple syrup urine disease' 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'inherited lipoic acid biosynthesis defect' 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'maple syrup urine disease' 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'inherited lipoic acid biosynthesis defect' http://purl.obolibrary.org/obo/MONDO_0009528 chylomicron retention disease 'chylomicron retention disease' SubClassOf 'hypobetalipoproteinemia' 'chylomicron retention disease' SubClassOf 'hypobetalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0009525 split hand-foot malformation 3 'split hand-foot malformation 3' SubClassOf 'partial duplication of the long arm of chromosome 10' 'split hand-foot malformation 3' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'split hand-foot malformation 3' SubClassOf 'split hand-foot malformation' 'split hand-foot malformation 3' SubClassOf 'partial duplication of the long arm of chromosome 10' 'split hand-foot malformation 3' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'split hand-foot malformation 3' SubClassOf 'split hand-foot malformation' http://purl.obolibrary.org/obo/MONDO_0009524 intellectual disability-spasticity-ectrodactyly syndrome 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-spasticity-ectrodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001424 skin epithelioid hemangioma 'skin epithelioid hemangioma' SubClassOf 'skin hemangioma' 'skin epithelioid hemangioma' SubClassOf 'epithelioid hemangioma' 'skin epithelioid hemangioma' SubClassOf 'skin hemangioma' 'skin epithelioid hemangioma' SubClassOf 'epithelioid hemangioma' http://purl.obolibrary.org/obo/MONDO_0009523 Lichtenstein syndrome 'Lichtenstein syndrome' SubClassOf 'constitutional neutropenia' 'Lichtenstein syndrome' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0010512 intellectual disability, X-linked, syndromic, Bain type 'intellectual disability, X-linked, syndromic, Bain type' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked, syndromic, Bain type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009522 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 'Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://www.ebi.ac.uk/efo/EFO_1001422 Sertoli Cell-Only Syndrome 'Sertoli Cell-Only Syndrome' SubClassOf 'azoospermia' 'Sertoli Cell-Only Syndrome' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0010514 combined immunodeficiency due to moesin deficiency 'combined immunodeficiency due to moesin deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to moesin deficiency' SubClassOf 'inborn error of immunity' 'combined immunodeficiency due to moesin deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to moesin deficiency' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0009520 3-hydroxy-3-methylglutaric aciduria '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'classic organic aciduria' '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'disorder of fatty acid oxidation and ketogenesis' '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0010519 alpha thalassemia-X-linked intellectual disability syndrome 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'ATR-X-related syndrome' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'ATR-X-related syndrome' http://purl.obolibrary.org/obo/MONDO_0010518 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Wiskott-Aldrich syndrome' SubClassOf 'X-linked disease' 'Wiskott-Aldrich syndrome' SubClassOf 'combined immunodeficiency' 'Wiskott-Aldrich syndrome' SubClassOf 'inherited blood coagulation disorder' 'Wiskott-Aldrich syndrome' SubClassOf 'hereditary neoplastic syndrome' 'Wiskott-Aldrich syndrome' SubClassOf 'X-linked disease' 'Wiskott-Aldrich syndrome' SubClassOf 'combined immunodeficiency' 'Wiskott-Aldrich syndrome' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0010524 X-linked sideroblastic anemia with ataxia 'X-linked sideroblastic anemia with ataxia' SubClassOf 'mitochondrial disease' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'inherited sideroblastic anemia' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'mitochondrial disease' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'inherited sideroblastic anemia' 'X-linked sideroblastic anemia with ataxia' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010523 X-linked reticulate pigmentary disorder 'X-linked reticulate pigmentary disorder' SubClassOf 'type 1 interferonopathy of childhood' 'X-linked reticulate pigmentary disorder' SubClassOf 'type 1 interferonopathy of childhood' http://purl.obolibrary.org/obo/MONDO_0009533 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease 'Fabry disease' SubClassOf 'sphingolipidosis' 'Fabry disease' SubClassOf 'developmental anomaly of metabolic origin' 'Fabry disease' SubClassOf 'sphingolipidosis' 'Fabry disease' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0009532 Miller-Dieker lissencephaly syndrome 'Miller-Dieker lissencephaly syndrome' SubClassOf 'syndromic disease' 'Miller-Dieker lissencephaly syndrome' SubClassOf 'chromosome 17p deletion' 'Miller-Dieker lissencephaly syndrome' SubClassOf 'classic lissencephaly' 'Miller-Dieker lissencephaly syndrome' SubClassOf 'syndromic disease' 'Miller-Dieker lissencephaly syndrome' SubClassOf 'chromosome 17p deletion' 'Miller-Dieker lissencephaly syndrome' SubClassOf 'classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0009530 lipoid proteinosis 'lipoid proteinosis' SubClassOf 'dermis disorder' 'lipoid proteinosis' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0010529 X-linked spinocerebellar ataxia type 3 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked cerebellar ataxia' 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010520 X-linked Alport syndrome 'X-linked Alport syndrome' SubClassOf 'Alport syndrome' 'X-linked Alport syndrome' SubClassOf 'X-linked disease' 'X-linked Alport syndrome' SubClassOf 'Alport syndrome' 'X-linked Alport syndrome' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0009549 severe early-childhood-onset retinal dystrophy 'severe early-childhood-onset retinal dystrophy' SubClassOf 'ABCA4-related retinopathy' 'severe early-childhood-onset retinal dystrophy' SubClassOf 'Stargardt disease' 'severe early-childhood-onset retinal dystrophy' SubClassOf 'ABCA4-related retinopathy' 'severe early-childhood-onset retinal dystrophy' SubClassOf 'Stargardt disease' http://purl.obolibrary.org/obo/MONDO_0009548 renal hypomagnesemia 5 with ocular involvement 'renal hypomagnesemia 5 with ocular involvement' SubClassOf 'familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' 'renal hypomagnesemia 5 with ocular involvement' SubClassOf 'hereditary macular dystrophy' 'renal hypomagnesemia 5 with ocular involvement' SubClassOf 'familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' 'renal hypomagnesemia 5 with ocular involvement' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009547 macrosomia-microphthalmia-cleft palate syndrome 'macrosomia-microphthalmia-cleft palate syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'macrosomia-microphthalmia-cleft palate syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010535 Bazex-Dupre-Christol syndrome 'Bazex-Dupre-Christol syndrome' SubClassOf 'skin disease' 'Bazex-Dupre-Christol syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0010534 X-linked spinocerebellar ataxia type 4 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked cerebellar ataxia' 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0009544 macrocephaly/megalencephaly syndrome, autosomal recessive 'macrocephaly/megalencephaly syndrome, autosomal recessive' SubClassOf 'megalencephaly' 'macrocephaly/megalencephaly syndrome, autosomal recessive' SubClassOf 'megalencephaly' http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009543 prominent glabella-microcephaly-hypogenitalism syndrome 'prominent glabella-microcephaly-hypogenitalism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'prominent glabella-microcephaly-hypogenitalism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010539 X-linked mandibulofacial dysostosis 'X-linked mandibulofacial dysostosis' SubClassOf 'syndromic disease' 'X-linked mandibulofacial dysostosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010538 Mononen-Karnes-Senac syndrome 'Mononen-Karnes-Senac syndrome' SubClassOf 'congenital limb malformation' 'Mononen-Karnes-Senac syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome 'contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010533 Arts syndrome 'Arts syndrome' SubClassOf 'syndromic disease' 'Arts syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010532 infantile-onset X-linked spinal muscular atrophy 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'arthrogryposis multiplex congenita' 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0009559 mandibulofacial dysostosis with mental deficiency 'mandibulofacial dysostosis with mental deficiency' SubClassOf 'genetic disorder' 'mandibulofacial dysostosis with mental deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009557 mandibuloacral dysplasia with type A lipodystrophy 'mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'mandibuloacral dysplasia' 'mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'laminopathy' 'mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'mandibuloacral dysplasia' 'mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'laminopathy' http://purl.obolibrary.org/obo/MONDO_0009556 malonic aciduria 'malonic aciduria' SubClassOf 'inborn organic aciduria' 'malonic aciduria' SubClassOf 'inborn organic aciduria' http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'disorder of development or morphogenesis' 'Nance-Horan syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010547 X-linked progressive cerebellar ataxia 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0009552 mal de Meleda 'mal de Meleda' SubClassOf 'diffuse palmoplantar keratoderma' 'mal de Meleda' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0010549 Charcot-Marie-Tooth disease X-linked dominant 1 'Charcot-Marie-Tooth disease X-linked dominant 1' SubClassOf 'Charcot-Marie-Tooth disease type X' 'Charcot-Marie-Tooth disease X-linked dominant 1' SubClassOf 'Charcot-Marie-Tooth disease type X' http://purl.obolibrary.org/obo/MONDO_0009550 renal hypomagnesemia 3 'renal hypomagnesemia 3' SubClassOf 'nephrocalcinosis' 'renal hypomagnesemia 3' SubClassOf 'renal tubular transport disease' 'renal hypomagnesemia 3' SubClassOf 'familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' 'renal hypomagnesemia 3' SubClassOf 'nephrocalcinosis' 'renal hypomagnesemia 3' SubClassOf 'renal tubular transport disease' 'renal hypomagnesemia 3' SubClassOf 'familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis' http://purl.obolibrary.org/obo/MONDO_0009560 oculotrichoanal syndrome 'oculotrichoanal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'oculotrichoanal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010540 bullous dystrophy, macular type 'bullous dystrophy, macular type' SubClassOf 'genetic disorder' 'bullous dystrophy, macular type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010542 dilated cardiomyopathy 3B 'dilated cardiomyopathy 3B' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 3B' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0010541 X-linked calvarial hyperostosis 'X-linked calvarial hyperostosis' SubClassOf 'hyperostosis' 'X-linked calvarial hyperostosis' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0010544 cataract 40 'cataract 40' SubClassOf 'early-onset non-syndromic cataract' 'cataract 40' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0010543 Barth syndrome 'Barth syndrome' SubClassOf 'inborn mitochondrial myopathy' 'Barth syndrome' SubClassOf 'constitutional neutropenia' 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' 'Barth syndrome' SubClassOf 'inborn mitochondrial myopathy' 'Barth syndrome' SubClassOf 'constitutional neutropenia' 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0009569 Hennekam-Beemer syndrome 'Hennekam-Beemer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Hennekam-Beemer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009568 mast syndrome 'mast syndrome' SubClassOf 'hereditary spastic paraplegia' 'mast syndrome' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010557 choroideremia 'choroideremia' SubClassOf 'X-linked disease' 'choroideremia' SubClassOf 'optic choroid disorder' 'choroideremia' SubClassOf 'X-linked disease' 'choroideremia' SubClassOf 'optic choroid disorder' http://purl.obolibrary.org/obo/MONDO_0009567 Marinesco-Sjogren syndrome 'Marinesco-Sjogren syndrome' SubClassOf 'syndromic disease' 'Marinesco-Sjogren syndrome' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' 'Marinesco-Sjogren syndrome' SubClassOf 'syndromic disease' 'Marinesco-Sjogren syndrome' SubClassOf 'autosomal recessive degenerative and progressive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010556 X-linked chondrodysplasia punctata 'X-linked chondrodysplasia punctata' SubClassOf 'non-rhizomelic chondrodysplasia punctata' 'X-linked chondrodysplasia punctata' SubClassOf 'sterol biosynthesis disorder' 'X-linked chondrodysplasia punctata' SubClassOf 'non-rhizomelic chondrodysplasia punctata' 'X-linked chondrodysplasia punctata' SubClassOf 'sterol biosynthesis disorder' http://purl.obolibrary.org/obo/MONDO_0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome 'marfanoid habitus-autosomal recessive intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'marfanoid habitus-autosomal recessive intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010559 MASA syndrome 'MASA syndrome' SubClassOf 'L1 syndrome' 'MASA syndrome' SubClassOf 'L1 syndrome' http://purl.obolibrary.org/obo/MONDO_0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome 'microcephaly-glomerulonephritis-marfanoid habitus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-glomerulonephritis-marfanoid habitus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010558 choroideremia-deafness-obesity syndrome 'choroideremia-deafness-obesity syndrome' SubClassOf 'inherited retinal dystrophy' 'choroideremia-deafness-obesity syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009564 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'Marden-Walker syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Marden-Walker syndrome' SubClassOf 'ciliopathy' 'Marden-Walker syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'Marden-Walker syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Marden-Walker syndrome' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0009563 maple syrup urine disease 'maple syrup urine disease' SubClassOf 'inborn organic aciduria' 'maple syrup urine disease' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' 'maple syrup urine disease' SubClassOf 'inborn organic aciduria' 'maple syrup urine disease' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009562 beta-mannosidosis 'beta-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'beta-mannosidosis' SubClassOf 'oligosaccharidosis' 'beta-mannosidosis' SubClassOf 'hereditary peripheral neuropathy' 'beta-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'beta-mannosidosis' SubClassOf 'oligosaccharidosis' 'beta-mannosidosis' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0009561 alpha-mannosidosis 'alpha-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'alpha-mannosidosis' SubClassOf 'oligosaccharidosis' 'alpha-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'alpha-mannosidosis' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0009570 McDonough syndrome 'McDonough syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'McDonough syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010551 Charcot-Marie-Tooth disease X-linked recessive 3 'Charcot-Marie-Tooth disease X-linked recessive 3' SubClassOf 'Charcot-Marie-Tooth disease type X' 'Charcot-Marie-Tooth disease X-linked recessive 3' SubClassOf 'Charcot-Marie-Tooth disease type X' http://purl.obolibrary.org/obo/MONDO_0010550 Charcot-Marie-Tooth disease X-linked recessive 2 'Charcot-Marie-Tooth disease X-linked recessive 2' SubClassOf 'Charcot-Marie-Tooth disease type X' 'Charcot-Marie-Tooth disease X-linked recessive 2' SubClassOf 'Charcot-Marie-Tooth disease type X' http://purl.obolibrary.org/obo/MONDO_0010555 X-linked chondrodysplasia punctata 1 'X-linked chondrodysplasia punctata 1' SubClassOf 'X-linked chondrodysplasia punctata' 'X-linked chondrodysplasia punctata 1' SubClassOf 'X-linked chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0010554 Abruzzo-Erickson syndrome 'Abruzzo-Erickson syndrome' SubClassOf 'syndromic disease' 'Abruzzo-Erickson syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Abruzzo-Erickson syndrome' SubClassOf 'syndromic disease' 'Abruzzo-Erickson syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009579 Frank-Ter Haar syndrome 'Frank-Ter Haar syndrome' SubClassOf 'filamin-related bone disorder' 'Frank-Ter Haar syndrome' SubClassOf 'syndromic disease' 'Frank-Ter Haar syndrome' SubClassOf 'filamin-related bone disorder' 'Frank-Ter Haar syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010568 Aicardi syndrome 'Aicardi syndrome' SubClassOf 'disorder of development or morphogenesis' 'Aicardi syndrome' SubClassOf 'syndromic disease' 'Aicardi syndrome' SubClassOf 'Neurodevelopmental disorder' 'Aicardi syndrome' SubClassOf 'disorder of development or morphogenesis' 'Aicardi syndrome' SubClassOf 'syndromic disease' 'Aicardi syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0009578 neurocutaneous melanocytosis 'neurocutaneous melanocytosis' SubClassOf 'neurocutaneous syndrome' 'neurocutaneous melanocytosis' SubClassOf 'melanocytic nevus' 'neurocutaneous melanocytosis' SubClassOf 'neurocutaneous syndrome' 'neurocutaneous melanocytosis' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0009577 megalocornea-intellectual disability syndrome 'megalocornea-intellectual disability syndrome' SubClassOf 'eye disease' 'megalocornea-intellectual disability syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009576 megalocornea 'megalocornea' SubClassOf 'genetic disorder' 'megalocornea' SubClassOf 'corneal disease' 'megalocornea' SubClassOf 'genetic disorder' 'megalocornea' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0010569 X-linked complicated corpus callosum dysgenesis 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'L1 syndrome' 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'L1 syndrome' http://purl.obolibrary.org/obo/MONDO_0009575 thiamine-responsive megaloblastic anemia syndrome 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'thiamine-responsive dysfunction syndrome' 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'vitamin B12- and folate-independent constitutional megaloblastic anemia' 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'thiamine-responsive dysfunction syndrome' 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'vitamin B12- and folate-independent constitutional megaloblastic anemia' http://purl.obolibrary.org/obo/MONDO_0009572 autosomal recessive familial Mediterranean fever 'autosomal recessive familial Mediterranean fever' SubClassOf 'familial Mediterranean fever' 'autosomal recessive familial Mediterranean fever' SubClassOf 'familial Mediterranean fever' http://purl.obolibrary.org/obo/MONDO_0009582 Mietens syndrome 'Mietens syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Mietens syndrome' SubClassOf 'syndromic disease' 'Mietens syndrome' SubClassOf 'disorder of visual system' 'Mietens syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Mietens syndrome' SubClassOf 'syndromic disease' 'Mietens syndrome' SubClassOf 'disorder of visual system' http://purl.obolibrary.org/obo/MONDO_0010560 cleft palate with or without ankyloglossia, X-linked 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'cleft palate' 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'cleft palate' http://purl.obolibrary.org/obo/MONDO_0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 'intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009580 intellectual disability, autosomal recessive 1 'intellectual disability, autosomal recessive 1' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 1' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010562 colonic atresia 'colonic atresia' SubClassOf 'disorder of development or morphogenesis' 'colonic atresia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010561 Coffin-Lowry syndrome 'Coffin-Lowry syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Coffin-Lowry syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010563 blue cone monochromacy 'blue cone monochromacy' SubClassOf 'achromatopsia' 'blue cone monochromacy' SubClassOf 'achromatopsia' http://purl.obolibrary.org/obo/MONDO_0010579 X-linked corneal dermoid 'X-linked corneal dermoid' SubClassOf 'corneal disease' 'X-linked corneal dermoid' SubClassOf 'syndromic disease' 'X-linked corneal dermoid' SubClassOf 'corneal disease' 'X-linked corneal dermoid' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'syndromic disease' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'skeletal dysplasia' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'skeletal dysplasia' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'syndromic disease' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010578 deafness dystonia syndrome 'deafness dystonia syndrome' SubClassOf 'inherited neurodegenerative disorder' 'deafness dystonia syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0009588 Langer mesomelic dysplasia 'Langer mesomelic dysplasia' SubClassOf 'skeletal dysplasia' 'Langer mesomelic dysplasia' SubClassOf 'mesomelic dysplasia' 'Langer mesomelic dysplasia' SubClassOf 'skeletal dysplasia' 'Langer mesomelic dysplasia' SubClassOf 'mesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria 'encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'inherited neurodegenerative disorder' 'encephalopathy due to beta-mercaptolactate-cysteine disulfiduria' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0009584 intellectual disability, Buenos-Aires type 'intellectual disability, Buenos-Aires type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability, Buenos-Aires type' SubClassOf 'syndromic intellectual disability' 'intellectual disability, Buenos-Aires type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability, Buenos-Aires type' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009583 blepharophimosis - intellectual disability syndrome, Ohdo type 'blepharophimosis - intellectual disability syndrome, Ohdo type' SubClassOf 'Ohdo syndrome and variants' 'blepharophimosis - intellectual disability syndrome, Ohdo type' SubClassOf 'Ohdo syndrome and variants' http://purl.obolibrary.org/obo/MONDO_0009593 spondylometaphyseal dysplasia, Sedaghatian type 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'inherited glutathione metabolism disease' 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'severe spondylodysplastic dysplasia' 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'inherited glutathione metabolism disease' 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'severe spondylodysplastic dysplasia' 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 'otopalatodigital syndrome type 2' SubClassOf 'otopalatodigital syndrome' 'otopalatodigital syndrome type 2' SubClassOf 'otopalatodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009592 metaphyseal acroscyphodysplasia 'metaphyseal acroscyphodysplasia' SubClassOf 'skeletal dysplasia' 'metaphyseal acroscyphodysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010570 craniofrontonasal syndrome 'craniofrontonasal syndrome' SubClassOf 'skeletal dysplasia' 'craniofrontonasal syndrome' SubClassOf 'syndromic disease' 'craniofrontonasal syndrome' SubClassOf 'neurocristopathy' 'craniofrontonasal syndrome' SubClassOf 'skeletal dysplasia' 'craniofrontonasal syndrome' SubClassOf 'syndromic disease' 'craniofrontonasal syndrome' SubClassOf 'neurocristopathy' http://purl.obolibrary.org/obo/MONDO_0009591 metachromatic leukodystrophy, juvenile form 'metachromatic leukodystrophy, juvenile form' SubClassOf 'metachromatic leukodystrophy' 'metachromatic leukodystrophy, juvenile form' SubClassOf 'metachromatic leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome 'occipital horn syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'occipital horn syndrome' SubClassOf 'disorder of copper metabolism' 'occipital horn syndrome' SubClassOf 'inherited cutis laxa' 'occipital horn syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'occipital horn syndrome' SubClassOf 'disorder of copper metabolism' 'occipital horn syndrome' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0010575 deafness-hypogonadism syndrome 'deafness-hypogonadism syndrome' SubClassOf 'syndromic disease' 'deafness-hypogonadism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010574 syndromic X-linked intellectual disability 5 'syndromic X-linked intellectual disability 5' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 5' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'syndromic X-linked intellectual disability 5' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'syndromic X-linked intellectual disability 5' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 5' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010576 X-linked mixed hearing loss with perilymphatic gusher 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'inner ear disease' 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'X-linked nonsyndromic hearing loss' 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'inner ear disease' 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'X-linked nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010589 Aarskog-Scott syndrome, X-linked 'Aarskog-Scott syndrome, X-linked' SubClassOf 'X-linked disease' 'Aarskog-Scott syndrome, X-linked' SubClassOf 'fg syndrome' 'Aarskog-Scott syndrome, X-linked' SubClassOf 'X-linked disease' 'Aarskog-Scott syndrome, X-linked' SubClassOf 'fg syndrome' http://purl.obolibrary.org/obo/MONDO_0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'syndromic disease' 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'skeletal dysplasia' 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'syndromic disease' 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'osteochondrodysplasia' 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'skeletal dysplasia' 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'osteochondrodysplasia' 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'skeletal dysplasia' 'metaphyseal chondrodysplasia-retinitis pigmentosa syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009597 metaphyseal chondrodysplasia, Spahr type 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'skeletal dysplasia' 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'osteochondrodysplasia' 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'skeletal dysplasia' 'metaphyseal chondrodysplasia, Spahr type' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia 'cartilage-hair hypoplasia' SubClassOf 'immuno-osseous dysplasia' 'cartilage-hair hypoplasia' SubClassOf 'skeletal system disease' 'cartilage-hair hypoplasia' SubClassOf 'ectodermal dysplasia syndrome' 'cartilage-hair hypoplasia' SubClassOf 'autosomal recessive disease' 'cartilage-hair hypoplasia' SubClassOf 'immuno-osseous dysplasia' 'cartilage-hair hypoplasia' SubClassOf 'skeletal system disease' 'cartilage-hair hypoplasia' SubClassOf 'ectodermal dysplasia syndrome' 'cartilage-hair hypoplasia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009594 metaphyseal chondrodysplasia, Kaitila type 'metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'osteochondrodysplasia' 'metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'skeletal dysplasia' 'metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'osteochondrodysplasia' 'metaphyseal chondrodysplasia, Kaitila type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010584 dyskeratosis congenita, X-linked 'dyskeratosis congenita, X-linked' SubClassOf 'DKC1-related disorder' 'dyskeratosis congenita, X-linked' SubClassOf 'DKC1-related disorder' http://purl.obolibrary.org/obo/MONDO_0010583 Dyggve-Melchior-Clausen syndrome, X-linked 'Dyggve-Melchior-Clausen syndrome, X-linked' SubClassOf 'Dyggve-Melchior-Clausen disease' 'Dyggve-Melchior-Clausen syndrome, X-linked' SubClassOf 'Dyggve-Melchior-Clausen disease' http://purl.obolibrary.org/obo/MONDO_0010586 X-linked Ehlers-Danlos syndrome 'X-linked Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'X-linked Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0010585 X-linked hypohidrotic ectodermal dysplasia 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010588 exudative vitreoretinopathy 2, X-linked 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'exudative vitreoretinopathy' 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'exudative vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_0010587 epidermodysplasia verruciformis, X-linked 'epidermodysplasia verruciformis, X-linked' SubClassOf 'epidermodysplasia verruciformis' 'epidermodysplasia verruciformis, X-linked' SubClassOf 'epidermodysplasia verruciformis' http://purl.obolibrary.org/obo/MONDO_0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'polyendocrinopathy' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'autoimmune enteropathy' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'hypersensitivity reaction disease' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'syndromic disease' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'polyendocrinopathy' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'autoimmune enteropathy' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'hypersensitivity reaction disease' 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010592 focal dermal hypoplasia 'focal dermal hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' 'focal dermal hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010598 glycogen storage disease IXa1 'glycogen storage disease IXa1' SubClassOf 'glycogen storage disease due to liver phosphorylase kinase deficiency' 'glycogen storage disease IXa1' SubClassOf 'glycogen storage disease due to liver phosphorylase kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0010591 fingerprint body myopathy 'fingerprint body myopathy' SubClassOf 'congenital myopathy' 'fingerprint body myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0010590 FG syndrome 1 'FG syndrome 1' SubClassOf 'fg syndrome' 'FG syndrome 1' SubClassOf 'MED12-related intellectual disability syndrome' 'FG syndrome 1' SubClassOf 'fg syndrome' 'FG syndrome 1' SubClassOf 'MED12-related intellectual disability syndrome' http://www.ebi.ac.uk/efo/EFO_1001391 Periapical Periodontitis 'Periapical Periodontitis' SubClassOf 'periodontitis' 'Periapical Periodontitis' SubClassOf 'periodontitis' http://www.ebi.ac.uk/efo/EFO_1001399 Pneumonia, Aspiration 'Pneumonia, Aspiration' SubClassOf 'pneumonitis' 'Pneumonia, Aspiration' SubClassOf 'pneumonitis' http://www.ebi.ac.uk/efo/EFO_1001395 Phlebitis 'Phlebitis' SubClassOf 'vein disorder' 'Phlebitis' SubClassOf 'vein disorder' http://purl.obolibrary.org/obo/GO_0008202 steroid metabolic process 'steroid metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://www.ebi.ac.uk/efo/EFO_1001105 pigmented spindle cell nevus 'pigmented spindle cell nevus' SubClassOf 'melanocytic nevus' 'pigmented spindle cell nevus' SubClassOf 'melanocytic nevus' http://www.ebi.ac.uk/efo/EFO_1001104 phimosis 'phimosis' SubClassOf 'penile disorder' 'phimosis' SubClassOf 'penile disorder' http://www.ebi.ac.uk/efo/EFO_1001102 peroneal nerve paralysis 'peroneal nerve paralysis' SubClassOf 'peripheral nervous system disease' 'peroneal nerve paralysis' SubClassOf 'peripheral nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001101 periventricular leukomalacia 'periventricular leukomalacia' SubClassOf 'encephalomalacia' 'periventricular leukomalacia' SubClassOf 'encephalomalacia' http://www.ebi.ac.uk/efo/EFO_1001100 peritoneal neoplasm 'peritoneal neoplasm' SubClassOf 'neoplasm' 'peritoneal neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1001109 pituitary dwarfism 'pituitary dwarfism' SubClassOf 'adrenal gland disease' 'pituitary dwarfism' SubClassOf 'adrenal gland disease' http://www.ebi.ac.uk/efo/EFO_1001108 pituitary apoplexy 'pituitary apoplexy' SubClassOf 'pituitary gland infarction' 'pituitary apoplexy' SubClassOf 'acquired pituitary hormone deficiency' 'pituitary apoplexy' SubClassOf 'pituitary gland infarction' 'pituitary apoplexy' SubClassOf 'acquired pituitary hormone deficiency' http://www.ebi.ac.uk/efo/EFO_1001107 pilar sheath acanthoma 'pilar sheath acanthoma' SubClassOf 'acanthoma' 'pilar sheath acanthoma' SubClassOf 'acanthoma' http://www.ebi.ac.uk/efo/EFO_1001116 polyradiculoneuropathy 'polyradiculoneuropathy' SubClassOf 'demyelinating disease' 'polyradiculoneuropathy' SubClassOf 'polyneuropathy' 'polyradiculoneuropathy' SubClassOf 'demyelinating disease' 'polyradiculoneuropathy' SubClassOf 'polyneuropathy' http://www.ebi.ac.uk/efo/EFO_1001115 POEMS syndrome 'POEMS syndrome' SubClassOf 'disease has location' some 'plasma cell' 'POEMS syndrome' SubClassOf 'acquired peripheral neuropathy' 'POEMS syndrome' SubClassOf 'paraneoplastic neurologic syndrome' 'POEMS syndrome' SubClassOf 'parneoplastic endocrine syndrome' 'POEMS syndrome' SubClassOf 'disease has location' some 'plasma cell' 'POEMS syndrome' SubClassOf 'acquired peripheral neuropathy' 'POEMS syndrome' SubClassOf 'paraneoplastic neurologic syndrome' 'POEMS syndrome' SubClassOf 'parneoplastic endocrine syndrome' http://www.ebi.ac.uk/efo/EFO_1001113 pneumatosis cystoides intestinalis 'pneumatosis cystoides intestinalis' SubClassOf 'intestinal disease' 'pneumatosis cystoides intestinalis' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_1001112 platelet storage pool deficiency 'platelet storage pool deficiency' SubClassOf 'disease has location' some 'platelet' 'platelet storage pool deficiency' SubClassOf 'syndromic constitutional thrombocytopenia' 'platelet storage pool deficiency' SubClassOf 'disease has location' some 'platelet' 'platelet storage pool deficiency' SubClassOf 'syndromic constitutional thrombocytopenia' http://www.ebi.ac.uk/efo/EFO_1001111 placental site trophoblastic tumor 'placental site trophoblastic tumor' SubClassOf 'choriocarcinoma' 'placental site trophoblastic tumor' SubClassOf 'gestational trophoblastic neoplasm' 'placental site trophoblastic tumor' SubClassOf 'choriocarcinoma' 'placental site trophoblastic tumor' SubClassOf 'gestational trophoblastic neoplasm' http://www.ebi.ac.uk/efo/EFO_1001110 pituitary-dependent Cushing's disease 'pituitary-dependent Cushing's disease' SubClassOf 'hyperpituitarism' 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' 'pituitary-dependent Cushing's disease' SubClassOf 'hyperpituitarism' 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' http://www.ebi.ac.uk/efo/EFO_1001119 posterior uveitis 'posterior uveitis' SubClassOf 'uveitis' 'posterior uveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1001118 posterior cerebral artery infarction 'posterior cerebral artery infarction' SubClassOf 'cerebral arterial disease' 'posterior cerebral artery infarction' SubClassOf 'cerebral infarction' 'posterior cerebral artery infarction' SubClassOf 'cerebral arterial disease' 'posterior cerebral artery infarction' SubClassOf 'cerebral infarction' http://www.ebi.ac.uk/efo/EFO_1001117 postcholecystectomy syndrome 'postcholecystectomy syndrome' SubClassOf 'bladder disease' 'postcholecystectomy syndrome' SubClassOf 'biliary tract disease' 'postcholecystectomy syndrome' SubClassOf 'bladder disease' 'postcholecystectomy syndrome' SubClassOf 'biliary tract disease' http://www.ebi.ac.uk/efo/EFO_1001127 primary Haemophilus infectious disease 'primary Haemophilus infectious disease' SubClassOf 'bacterial disease' 'primary Haemophilus infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001126 primary Fusobacteriaceae infectious disease 'primary Fusobacteriaceae infectious disease' SubClassOf 'gram-negative bacterial infections' 'primary Fusobacteriaceae infectious disease' SubClassOf 'gram-negative bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001125 primary Bartonellaceae infectious disease 'primary Bartonellaceae infectious disease' SubClassOf 'gram-negative bacterial infections' 'primary Bartonellaceae infectious disease' SubClassOf 'gram-negative bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001124 primary Bacillaceae infectious disease 'primary Bacillaceae infectious disease' SubClassOf 'gram-positive bacterial infections' 'primary Bacillaceae infectious disease' SubClassOf 'gram-positive bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001123 primary Anaplasmataceae infectious disease 'primary Anaplasmataceae infectious disease' SubClassOf 'gram-negative bacterial infections' 'primary Anaplasmataceae infectious disease' SubClassOf 'gram-negative bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001122 primary Actinomycetales infectious disease 'primary Actinomycetales infectious disease' SubClassOf 'gram-positive bacterial infections' 'primary Actinomycetales infectious disease' SubClassOf 'gram-positive bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001121 prediabetes syndrome 'prediabetes syndrome' SubClassOf 'glucose metabolism disease' 'prediabetes syndrome' SubClassOf 'glucose metabolism disease' http://www.ebi.ac.uk/efo/EFO_1001120 potassium deficiency 'potassium deficiency' SubClassOf 'nutritional deficiency disease' 'potassium deficiency' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_1001128 Rickettsiaceae infectious disease 'Rickettsiaceae infectious disease' SubClassOf 'gram-negative bacterial infections' 'Rickettsiaceae infectious disease' SubClassOf 'gram-negative bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001130 Proteus infectious disease 'Proteus infectious disease' SubClassOf 'bacterial disease' 'Proteus infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001138 pulmonary valve stenosis 'pulmonary valve stenosis' SubClassOf 'pulmonary valve disease' 'pulmonary valve stenosis' SubClassOf 'pulmonary valve disease' http://www.ebi.ac.uk/efo/EFO_1001137 pulmonary subvalvular stenosis 'pulmonary subvalvular stenosis' SubClassOf 'pulmonary valve stenosis' 'pulmonary subvalvular stenosis' SubClassOf 'pulmonary valve stenosis' http://www.ebi.ac.uk/efo/EFO_1001135 pulmonary plasma cell granuloma 'pulmonary plasma cell granuloma' SubClassOf 'lung disease' 'pulmonary plasma cell granuloma' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_1001134 pulmonary edema 'pulmonary edema' SubClassOf 'acute respiratory failure' 'pulmonary edema' SubClassOf 'acute respiratory failure' http://www.ebi.ac.uk/efo/EFO_1001133 pulmonary coin lesion 'pulmonary coin lesion' SubClassOf 'lung disease' 'pulmonary coin lesion' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_1001132 pseudotumor cerebri 'pseudotumor cerebri' SubClassOf 'intracranial hypertension' 'pseudotumor cerebri' SubClassOf 'cerebrovascular disorder' 'pseudotumor cerebri' SubClassOf 'intracranial hypertension' 'pseudotumor cerebri' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1001131 pseudobulbar palsy 'pseudobulbar palsy' SubClassOf 'cranial nerve neuropathy' 'pseudobulbar palsy' SubClassOf 'cranial nerve neuropathy' http://www.ebi.ac.uk/efo/EFO_1001139 pulpitis 'pulpitis' SubClassOf 'bacterial disease' 'pulpitis' SubClassOf 'dental pulp disease' 'pulpitis' SubClassOf 'bacterial disease' 'pulpitis' SubClassOf 'dental pulp disease' http://www.ebi.ac.uk/efo/EFO_1001141 pyelonephritis 'pyelonephritis' SubClassOf 'bacterial urinary tract infection' 'pyelonephritis' SubClassOf 'uterine inflammatory disease' 'pyelonephritis' SubClassOf 'pyelitis' 'pyelonephritis' SubClassOf 'bacterial urinary tract infection' 'pyelonephritis' SubClassOf 'uterine inflammatory disease' 'pyelonephritis' SubClassOf 'pyelitis' http://www.ebi.ac.uk/efo/EFO_1001149 renal aminoaciduria 'renal aminoaciduria' SubClassOf 'kidney disease' 'renal aminoaciduria' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001148 relapsing polychondritis 'relapsing polychondritis' SubClassOf 'chondromalacia' 'relapsing polychondritis' SubClassOf 'chondromalacia' http://www.ebi.ac.uk/efo/EFO_1001147 reflex sympathetic dystrophy 'reflex sympathetic dystrophy' SubClassOf 'syndromic disease' 'reflex sympathetic dystrophy' SubClassOf 'complex regional pain syndrome' 'reflex sympathetic dystrophy' SubClassOf 'syndromic disease' 'reflex sympathetic dystrophy' SubClassOf 'complex regional pain syndrome' http://www.ebi.ac.uk/efo/EFO_1001146 reflex epilepsy 'reflex epilepsy' SubClassOf 'variable age onset epilepsy' 'reflex epilepsy' SubClassOf 'variable age onset epilepsy' http://www.ebi.ac.uk/efo/EFO_1001145 Raynaud disease 'Raynaud disease' SubClassOf 'genetic disorder' 'Raynaud disease' SubClassOf 'peripheral vascular disease' 'Raynaud disease' SubClassOf 'genetic disorder' 'Raynaud disease' SubClassOf 'peripheral vascular disease' http://www.ebi.ac.uk/efo/EFO_1001144 rat-bite fever 'rat-bite fever' SubClassOf 'bacterial disease' 'rat-bite fever' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001143 radial nerve lesion 'radial nerve lesion' SubClassOf 'neuritis of upper limb' 'radial nerve lesion' SubClassOf 'radial neuropathy' 'radial nerve lesion' SubClassOf 'neuritis of upper limb' 'radial nerve lesion' SubClassOf 'radial neuropathy' http://www.ebi.ac.uk/efo/EFO_1001142 pyruvate carboxylase deficiency disease 'pyruvate carboxylase deficiency disease' SubClassOf 'disorder of gluconeogenesis' 'pyruvate carboxylase deficiency disease' SubClassOf 'disorder of gluconeogenesis' http://purl.obolibrary.org/obo/MONDO_0009406 hypertrichotic osteochondrodysplasia Cantu type 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'genetic disorder' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'osteochondrodysplasia' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'syndromic disease' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'genetic disorder' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'syndromic disease' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0009405 cervical hypertrichosis-peripheral neuropathy syndrome 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'hypertrichosis' 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'hypertrichosis' http://purl.obolibrary.org/obo/MONDO_0009404 hypertelorism, microtia, facial clefting syndrome 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'autosomal recessive disease' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009403 hypertelorism and tetralogy of fallot 'hypertelorism and tetralogy of fallot' SubClassOf 'genetic disorder' 'hypertelorism and tetralogy of fallot' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009402 acrofrontofacionasal dysostosis 2 'acrofrontofacionasal dysostosis 2' SubClassOf 'syndromic disease' 'acrofrontofacionasal dysostosis 2' SubClassOf 'acrofrontofacionasal dysostosis' 'acrofrontofacionasal dysostosis 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acrofrontofacionasal dysostosis 2' SubClassOf 'syndromic disease' 'acrofrontofacionasal dysostosis 2' SubClassOf 'acrofrontofacionasal dysostosis' 'acrofrontofacionasal dysostosis 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009401 hyperprolinemia type 2 'hyperprolinemia type 2' SubClassOf 'hyperprolinemia' 'hyperprolinemia type 2' SubClassOf 'hyperprolinemia' http://purl.obolibrary.org/obo/MONDO_0009400 hyperprolinemia type 1 'hyperprolinemia type 1' SubClassOf 'hyperprolinemia' 'hyperprolinemia type 1' SubClassOf 'hyperprolinemia' http://purl.obolibrary.org/obo/MONDO_0009419 Woodhouse-Sakati syndrome 'Woodhouse-Sakati syndrome' SubClassOf 'inherited dystonia' 'Woodhouse-Sakati syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Woodhouse-Sakati syndrome' SubClassOf 'neurodegeneration with brain iron accumulation' 'Woodhouse-Sakati syndrome' SubClassOf 'inherited dystonia' 'Woodhouse-Sakati syndrome' SubClassOf 'congenital hypogonadotropic hypogonadism' 'Woodhouse-Sakati syndrome' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0009417 hypergonadotropic hypogonadism-cataract syndrome 'hypergonadotropic hypogonadism-cataract syndrome' SubClassOf 'syndromic disease' 'hypergonadotropic hypogonadism-cataract syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy 'hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'overgrowth syndrome' 'hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'endocrine system disease' 'hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'overgrowth syndrome' 'hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency 'glycogen storage disorder due to hepatic glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disorder due to hepatic glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0010403 albinism-hearing loss syndrome 'albinism-hearing loss syndrome' SubClassOf 'albinism' 'albinism-hearing loss syndrome' SubClassOf 'hypopigmentation of the skin' 'albinism-hearing loss syndrome' SubClassOf 'albinism' 'albinism-hearing loss syndrome' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0009413 immunodeficiency, common variable, 2 'immunodeficiency, common variable, 2' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 2' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0010402 syndromic X-linked intellectual disability 94 'syndromic X-linked intellectual disability 94' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 94' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009411 autoimmune polyendocrine syndrome type 1 'autoimmune polyendocrine syndrome type 1' SubClassOf 'autoimmune polyendocrinopathy' 'autoimmune polyendocrine syndrome type 1' SubClassOf 'adrenal gland disease' 'autoimmune polyendocrine syndrome type 1' SubClassOf 'hereditary hypoparathyroidism' 'autoimmune polyendocrine syndrome type 1' SubClassOf 'autoimmune polyendocrinopathy' 'autoimmune polyendocrine syndrome type 1' SubClassOf 'adrenal gland disease' 'autoimmune polyendocrine syndrome type 1' SubClassOf 'hereditary hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0010404 X-linked non progressive cerebellar ataxia 'X-linked non progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked non progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010407 intellectual disability, X-linked syndromic, Turner type 'intellectual disability, X-linked syndromic, Turner type' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked syndromic, Turner type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010406 chromosome Xp11.22 duplication syndrome 'chromosome Xp11.22 duplication syndrome' SubClassOf 'non-syndromic X-linked intellectual disability' 'chromosome Xp11.22 duplication syndrome' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010409 syndromic X-linked intellectual disability Shrimpton type 'syndromic X-linked intellectual disability Shrimpton type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Shrimpton type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'syndromic disease' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'syndromic disease' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010401 X-linked myopathy with postural muscle atrophy 'X-linked myopathy with postural muscle atrophy' SubClassOf 'X-linked Emery-Dreifuss muscular dystrophy' 'X-linked myopathy with postural muscle atrophy' SubClassOf 'X-linked Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009426 hypoparathyroidism-retardation-dysmorphism syndrome 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'syndromic disease' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'autosomal recessive disease' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'syndromic disease' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009425 hypomandibular faciocranial dysostosis 'hypomandibular faciocranial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hypomandibular faciocranial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010418 hereditary spastic paraplegia 34 'hereditary spastic paraplegia 34' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 34' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'syndromic disease' 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010417 syndromic X-linked intellectual disability Najm type 'syndromic X-linked intellectual disability Najm type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Najm type' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'syndromic X-linked intellectual disability Najm type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Najm type' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010412 X-linked intellectual disability-craniofacioskeletal syndrome 'X-linked intellectual disability-craniofacioskeletal syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-craniofacioskeletal syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009437 Bamforth-Lazarus syndrome 'Bamforth-Lazarus syndrome' SubClassOf 'syndromic disease' 'Bamforth-Lazarus syndrome' SubClassOf 'endocrine system disease' 'Bamforth-Lazarus syndrome' SubClassOf 'syndromic disease' 'Bamforth-Lazarus syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0010425 Lisch epithelial corneal dystrophy 'Lisch epithelial corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'Lisch epithelial corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' 'Lisch epithelial corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'Lisch epithelial corneal dystrophy' SubClassOf 'epithelial and subepithelial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009435 hypospadias-intellectual disability, Goldblatt type syndrome 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'syndromic disease' 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'syndromic disease' 'hypospadias-intellectual disability, Goldblatt type syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010427 syndromic X-linked intellectual disability Raymond type 'syndromic X-linked intellectual disability Raymond type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Raymond type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009433 hypoplastic left heart syndrome 1 'hypoplastic left heart syndrome 1' SubClassOf 'hypoplastic left heart syndrome' 'hypoplastic left heart syndrome 1' SubClassOf 'hypoplastic left heart syndrome' http://purl.obolibrary.org/obo/MONDO_0010426 X-linked endothelial corneal dystrophy 'X-linked endothelial corneal dystrophy' SubClassOf 'posterior corneal dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf 'posterior corneal dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' http://purl.obolibrary.org/obo/MONDO_0009431 hereditary hypophosphatemic rickets with hypercalciuria 'hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'abnormal mineralization disorder' 'hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'hereditary hypophosphatemic rickets' 'hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'abnormal mineralization disorder' 'hereditary hypophosphatemic rickets with hypercalciuria' SubClassOf 'hereditary hypophosphatemic rickets' http://purl.obolibrary.org/obo/MONDO_0010428 chromosome Xp11.23-p11.22 duplication syndrome 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome X' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0010421 Bruton-type agammaglobulinemia 'Bruton-type agammaglobulinemia' SubClassOf 'isolated agammaglobulinemia' 'Bruton-type agammaglobulinemia' SubClassOf 'isolated agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0009448 iminoglycinuria 'iminoglycinuria' SubClassOf 'inborn disorder of amino acid transport' 'iminoglycinuria' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0010436 chromosome Xq28 duplication syndrome 'chromosome Xq28 duplication syndrome' SubClassOf 'syndromic X-linked intellectual disability Lubs type' 'chromosome Xq28 duplication syndrome' SubClassOf 'syndromic X-linked intellectual disability Lubs type' http://purl.obolibrary.org/obo/MONDO_0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'genetic disorder' 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'syndromic disease' 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'genetic disorder' 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010435 nystagmus 6, congenital, X-linked 'nystagmus 6, congenital, X-linked' SubClassOf 'GPR143-related foveal hypoplasia' 'nystagmus 6, congenital, X-linked' SubClassOf 'congenital nystagmus' 'nystagmus 6, congenital, X-linked' SubClassOf 'GPR143-related foveal hypoplasia' 'nystagmus 6, congenital, X-linked' SubClassOf 'congenital nystagmus' http://purl.obolibrary.org/obo/MONDO_0009445 ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 'ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome' SubClassOf 'syndromic disease' 'ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome' SubClassOf 'hereditary ataxia' 'ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome' SubClassOf 'syndromic disease' 'ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0010438 paroxysmal nocturnal hemoglobinuria 1 'paroxysmal nocturnal hemoglobinuria 1' SubClassOf 'paroxysmal nocturnal hemoglobinuria' 'paroxysmal nocturnal hemoglobinuria 1' SubClassOf 'paroxysmal nocturnal hemoglobinuria' http://purl.obolibrary.org/obo/MONDO_0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010437 severe X-linked mitochondrial encephalomyopathy 'severe X-linked mitochondrial encephalomyopathy' SubClassOf 'combined oxidative phosphorylation deficiency' 'severe X-linked mitochondrial encephalomyopathy' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss 'ichthyosiform erythroderma, corneal involvement, and hearing loss' SubClassOf 'KID syndrome' 'ichthyosiform erythroderma, corneal involvement, and hearing loss' SubClassOf 'KID syndrome' http://purl.obolibrary.org/obo/MONDO_0010432 thrombophilia, X-linked, due to factor 9 defect 'thrombophilia, X-linked, due to factor 9 defect' SubClassOf 'inherited thrombophilia' 'thrombophilia, X-linked, due to factor 9 defect' SubClassOf 'inherited thrombophilia' http://purl.obolibrary.org/obo/MONDO_0010431 Joubert syndrome 10 'Joubert syndrome 10' SubClassOf 'Joubert syndrome' 'Joubert syndrome 10' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'syndromic disease' 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'genetic disorder' 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'syndromic disease' 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia 'Schimke immuno-osseous dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'immuno-osseous dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'immuno-osseous dysplasia' http://purl.obolibrary.org/obo/MONDO_0010447 intellectual disability, X-linked 19 'intellectual disability, X-linked 19' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 19' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010446 X-linked cone dysfunction syndrome with myopia 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'eye disease' 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 'moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'Moyamoya disease' 'moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'Moyamoya disease' http://purl.obolibrary.org/obo/MONDO_0009453 immune deficiency disease 'immune deficiency disease' SubClassOf 'immune system disease' 'immune deficiency disease' SubClassOf 'genetic disorder' 'immune deficiency disease' SubClassOf 'immune system disease' 'immune deficiency disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009452 Vici syndrome 'Vici syndrome' SubClassOf 'immune system disease' 'Vici syndrome' SubClassOf 'syndromic disease' 'Vici syndrome' SubClassOf 'autosomal recessive disease' 'Vici syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Vici syndrome' SubClassOf 'immune system disease' 'Vici syndrome' SubClassOf 'syndromic disease' 'Vici syndrome' SubClassOf 'autosomal recessive disease' 'Vici syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009451 Nezelof syndrome 'Nezelof syndrome' SubClassOf 'congenital T-cell immunodeficiency' 'Nezelof syndrome' SubClassOf 'congenital T-cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009461 spermatogenic failure 5 'spermatogenic failure 5' SubClassOf 'male infertility with teratozoospermia due to single gene mutation' 'spermatogenic failure 5' SubClassOf 'azoospermia' 'spermatogenic failure 5' SubClassOf 'male infertility with teratozoospermia due to single gene mutation' 'spermatogenic failure 5' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0010441 CK syndrome 'CK syndrome' SubClassOf 'disorder of development or morphogenesis' 'CK syndrome' SubClassOf 'syndromic intellectual disability' 'CK syndrome' SubClassOf 'disorder of development or morphogenesis' 'CK syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010444 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'GATA1-Related X-Linked Cytopenia' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'congenital dyserythropoietic anemia' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'GATA1-Related X-Linked Cytopenia' 'X-linked dyserythropoetic anemia with abnormal platelets and neutropenia' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0009469 benign recurrent intrahepatic cholestasis type 1 'benign recurrent intrahepatic cholestasis type 1' SubClassOf 'benign recurrent intrahepatic cholestasis' 'benign recurrent intrahepatic cholestasis type 1' SubClassOf 'benign recurrent intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0010457 Ogden syndrome 'Ogden syndrome' SubClassOf 'NAA10-related syndrome' 'Ogden syndrome' SubClassOf 'progeroid syndrome' 'Ogden syndrome' SubClassOf 'NAA10-related syndrome' 'Ogden syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'disorder of development or morphogenesis' 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010459 amyotrophic lateral sclerosis type 15 'amyotrophic lateral sclerosis type 15' SubClassOf 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis type 15' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0009465 multiple intestinal atresia 'multiple intestinal atresia' SubClassOf 'disorder of development or morphogenesis' 'multiple intestinal atresia' SubClassOf 'autosomal recessive disease' 'multiple intestinal atresia' SubClassOf 'disorder of development or morphogenesis' 'multiple intestinal atresia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009470 Baraitser-Winter syndrome 1 'Baraitser-Winter syndrome 1' SubClassOf 'Baraitser-Winter cerebrofrontofacial syndrome' 'Baraitser-Winter syndrome 1' SubClassOf 'BAFopathy' 'Baraitser-Winter syndrome 1' SubClassOf 'Baraitser-Winter cerebrofrontofacial syndrome' 'Baraitser-Winter syndrome 1' SubClassOf 'BAFopathy' http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated 'renal cell carcinoma, Xp11-associated' SubClassOf 'MIT family translocation renal cell carcinoma' 'renal cell carcinoma, Xp11-associated' SubClassOf 'MIT family translocation renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'combined immunodeficiency' 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009479 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johanson-Blizzard syndrome' SubClassOf 'hearing loss' 'Johanson-Blizzard syndrome' SubClassOf 'autosomal recessive disease' 'Johanson-Blizzard syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Johanson-Blizzard syndrome' SubClassOf 'hearing loss' 'Johanson-Blizzard syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009478 combined immunodeficiency due to DOCK8 deficiency 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'hyper-IgE syndrome' 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0009476 atresia of small intestine 'atresia of small intestine' SubClassOf 'small intestine disorder' 'atresia of small intestine' SubClassOf 'disorder of development or morphogenesis' 'atresia of small intestine' SubClassOf 'small intestine disorder' 'atresia of small intestine' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009475 isovaleric acidemia 'isovaleric acidemia' SubClassOf 'classic organic aciduria' 'isovaleric acidemia' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009473 isotretinoin-like syndrome 'isotretinoin-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'isotretinoin-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009483 Kapur-Toriello syndrome 'Kapur-Toriello syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Kapur-Toriello syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010461 syndromic X-linked intellectual disability Nascimento type 'syndromic X-linked intellectual disability Nascimento type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Nascimento type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009482 hypogonadotropic hypogonadism 3 with or without anosmia 'hypogonadotropic hypogonadism 3 with or without anosmia' SubClassOf 'Kallmann syndrome' 'hypogonadotropic hypogonadism 3 with or without anosmia' SubClassOf 'Kallmann syndrome' http://purl.obolibrary.org/obo/MONDO_0010460 syndromic X-linked intellectual disability 17 'syndromic X-linked intellectual disability 17' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 17' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'syndromic disease' 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009480 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with oculorenal defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with oculorenal defect' SubClassOf 'disorder of visual system' 'Joubert syndrome with oculorenal defect' SubClassOf 'syndromic disease' 'Joubert syndrome with oculorenal defect' SubClassOf 'Joubert syndrome and related disorders' 'Joubert syndrome with oculorenal defect' SubClassOf 'disorder of visual system' 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'Joubert syndrome with oculorenal defect' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010467 Xq27.3q28 duplication syndrome 'Xq27.3q28 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome X' 'Xq27.3q28 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'developmental and epileptic encephalopathy' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'developmental and epileptic encephalopathy' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' http://purl.obolibrary.org/obo/MONDO_0010479 Charcot-Marie-Tooth disease X-linked dominant 6 'Charcot-Marie-Tooth disease X-linked dominant 6' SubClassOf 'Charcot-Marie-Tooth disease type X' 'Charcot-Marie-Tooth disease X-linked dominant 6' SubClassOf 'Charcot-Marie-Tooth disease type X' http://purl.obolibrary.org/obo/MONDO_0009489 hereditary palmoplantar keratoderma, Gamborg-Nielsen type 'hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'diffuse palmoplantar keratoderma' 'hereditary palmoplantar keratoderma, Gamborg-Nielsen type' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0009486 autosomal recessive Kenny-Caffey syndrome 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' http://purl.obolibrary.org/obo/MONDO_0009485 oculocerebrofacial syndrome, Kaufman type 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'syndromic disease' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 'developmental and epileptic encephalopathy, 36' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 36' SubClassOf 'disorder of protein N-glycosylation' 'developmental and epileptic encephalopathy, 36' SubClassOf 'congenital disorder of glycosylation type I' 'developmental and epileptic encephalopathy, 36' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 36' SubClassOf 'congenital disorder of glycosylation type I' 'developmental and epileptic encephalopathy, 36' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0009493 Richards-Rundle syndrome 'Richards-Rundle syndrome' SubClassOf 'hereditary ataxia' 'Richards-Rundle syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency 'succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'inborn disorder of ketolysis' 'succinyl-CoA:3-ketoacid CoA transferase deficiency' SubClassOf 'inborn disorder of ketolysis' http://purl.obolibrary.org/obo/MONDO_0009491 Haim-Munk syndrome 'Haim-Munk syndrome' SubClassOf 'disorder of lysosomal-related organelles' 'Haim-Munk syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'Haim-Munk syndrome' SubClassOf 'disorder of lysosomal-related organelles' 'Haim-Munk syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0010473 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 'X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009490 Papillon-Lefevre disease 'Papillon-Lefevre disease' SubClassOf 'diffuse palmoplantar keratoderma' 'Papillon-Lefevre disease' SubClassOf 'periodontal disorder' 'Papillon-Lefevre disease' SubClassOf 'disorder of lysosomal-related organelles' 'Papillon-Lefevre disease' SubClassOf 'functional neutrophil defect' 'Papillon-Lefevre disease' SubClassOf 'diffuse palmoplantar keratoderma' 'Papillon-Lefevre disease' SubClassOf 'periodontal disorder' 'Papillon-Lefevre disease' SubClassOf 'disorder of lysosomal-related organelles' 'Papillon-Lefevre disease' SubClassOf 'functional neutrophil defect' http://purl.obolibrary.org/obo/MONDO_0010476 neurodegeneration with brain iron accumulation 5 'neurodegeneration with brain iron accumulation 5' SubClassOf 'neurodegeneration with brain iron accumulation' 'neurodegeneration with brain iron accumulation 5' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'syndromic disease' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'central congenital hypothyroidism' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'X-linked disease' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'syndromic disease' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'central congenital hypothyroidism' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010478 SLC35A2-congenital disorder of glycosylation 'SLC35A2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A2-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'SLC35A2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A2-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0010477 blepharophimosis - intellectual disability syndrome, MKB type 'blepharophimosis - intellectual disability syndrome, MKB type' SubClassOf 'Ohdo syndrome and variants' 'blepharophimosis - intellectual disability syndrome, MKB type' SubClassOf 'Ohdo syndrome and variants' http://www.ebi.ac.uk/efo/EFO_1001031 malignant hypertension 'malignant hypertension' SubClassOf 'hypertension' 'malignant hypertension' SubClassOf 'hypertension' http://www.ebi.ac.uk/efo/EFO_1001030 male genital tuberculosis 'male genital tuberculosis' SubClassOf 'urogenital tuberculosis' 'male genital tuberculosis' SubClassOf 'male reproductive system disease' 'male genital tuberculosis' SubClassOf 'urogenital tuberculosis' 'male genital tuberculosis' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1001039 Melkersson-Rosenthal syndrome 'Melkersson-Rosenthal syndrome' SubClassOf 'cheilitis' 'Melkersson-Rosenthal syndrome' SubClassOf 'facial nerve disease' 'Melkersson-Rosenthal syndrome' SubClassOf 'urticaria' 'Melkersson-Rosenthal syndrome' SubClassOf 'syndromic disease' 'Melkersson-Rosenthal syndrome' SubClassOf 'cheilitis' 'Melkersson-Rosenthal syndrome' SubClassOf 'facial nerve disease' 'Melkersson-Rosenthal syndrome' SubClassOf 'urticaria' 'Melkersson-Rosenthal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease 'Krabbe disease' SubClassOf 'leukodystrophy' 'Krabbe disease' SubClassOf 'hereditary peripheral neuropathy' 'Krabbe disease' SubClassOf 'sphingolipidosis' 'Krabbe disease' SubClassOf 'eye degenerative disorder' 'Krabbe disease' SubClassOf 'disease has basis in accumulation of' some 'psychosine' 'Krabbe disease' SubClassOf 'leukodystrophy' 'Krabbe disease' SubClassOf 'hereditary peripheral neuropathy' 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_basis_in_accumulation_of some 'psychosine' 'Krabbe disease' SubClassOf 'sphingolipidosis' 'Krabbe disease' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_1001036 Meckel's diverticulum 'Meckel's diverticulum' SubClassOf 'genetic disorder' 'Meckel's diverticulum' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001035 maxillary sinus neoplasm 'maxillary sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' 'maxillary sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' http://purl.obolibrary.org/obo/MONDO_0009498 lethal Kniest-like dysplasia 'lethal Kniest-like dysplasia' SubClassOf 'osteochondrodysplasia' 'lethal Kniest-like dysplasia' SubClassOf 'skeletal dysplasia' 'lethal Kniest-like dysplasia' SubClassOf 'osteochondrodysplasia' 'lethal Kniest-like dysplasia' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_1001034 mastitis 'mastitis' SubClassOf 'inflammatory disease' 'mastitis' SubClassOf 'breast disease' 'mastitis' SubClassOf 'inflammatory disease' 'mastitis' SubClassOf 'breast disease' http://www.ebi.ac.uk/efo/EFO_1001033 marasmus 'marasmus' SubClassOf 'protein energy malnutrition' 'marasmus' SubClassOf 'protein energy malnutrition' http://purl.obolibrary.org/obo/MONDO_0009495 Keutel syndrome 'Keutel syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Keutel syndrome' SubClassOf 'chondrodysplasia punctata' 'Keutel syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Keutel syndrome' SubClassOf 'chondrodysplasia punctata' http://www.ebi.ac.uk/efo/EFO_1001032 malignant lymphatic vessel tumor 'malignant lymphatic vessel tumor' SubClassOf 'lymphoid neoplasm' 'malignant lymphatic vessel tumor' SubClassOf 'lymphoid neoplasm' http://purl.obolibrary.org/obo/MONDO_0010483 X-linked intellectual disability, Cantagrel type 'X-linked intellectual disability, Cantagrel type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cantagrel type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010482 X-linked parkinsonism-spasticity syndrome 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'ATP6AP2-related disorder' 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'parkinsonian disorder' 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'ATP6AP2-related disorder' 'X-linked parkinsonism-spasticity syndrome' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'syndromic microphthalmia' 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0010487 intellectual disability, X-linked 99 'intellectual disability, X-linked 99' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 99' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' SubClassOf 'anemia, nonspherocytic hemolytic' 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' SubClassOf 'anemia, nonspherocytic hemolytic' http://www.ebi.ac.uk/efo/EFO_1001042 mesenchymoma 'mesenchymoma' SubClassOf 'neoplasm' 'mesenchymoma' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1001041 mesenchymal chondrosarcoma 'mesenchymal chondrosarcoma' SubClassOf 'chondrosarcoma' 'mesenchymal chondrosarcoma' SubClassOf 'small cell sarcoma' 'mesenchymal chondrosarcoma' SubClassOf 'chondrosarcoma' 'mesenchymal chondrosarcoma' SubClassOf 'small cell sarcoma' http://www.ebi.ac.uk/efo/EFO_1001040 meningococcal meningitis 'meningococcal meningitis' SubClassOf 'meningococcal infection' 'meningococcal meningitis' SubClassOf 'bacterial meningitis' 'meningococcal meningitis' SubClassOf 'meningococcal infection' 'meningococcal meningitis' SubClassOf 'bacterial meningitis' http://www.ebi.ac.uk/efo/EFO_1001048 mucinous cystadenoma 'mucinous cystadenoma' SubClassOf 'mucinous neoplasm' 'mucinous cystadenoma' EquivalentTo 'cystadenoma' and 'mucinous neoplasm' 'mucinous cystadenoma' SubClassOf 'cystadenoma' 'mucinous cystadenoma' SubClassOf 'mucinous neoplasm' 'mucinous cystadenoma' EquivalentTo 'cystadenoma' and 'mucinous neoplasm' 'mucinous cystadenoma' SubClassOf 'cystadenoma' http://www.ebi.ac.uk/efo/EFO_1001045 middle cerebral artery infarction 'middle cerebral artery infarction' SubClassOf 'cerebral infarction' 'middle cerebral artery infarction' SubClassOf 'cerebral arterial disease' 'middle cerebral artery infarction' SubClassOf 'cerebral infarction' 'middle cerebral artery infarction' SubClassOf 'cerebral arterial disease' http://www.ebi.ac.uk/efo/EFO_1001044 mesothelial neoplasm 'mesothelial neoplasm' SubClassOf 'neoplasm' 'mesothelial neoplasm' SubClassOf 'disease has location' some 'mesodermal cell' 'mesothelial neoplasm' SubClassOf 'neoplasm' 'mesothelial neoplasm' SubClassOf 'disease has location' some 'mesodermal cell' http://www.ebi.ac.uk/efo/EFO_1001043 mesenteric vascular occlusion 'mesenteric vascular occlusion' SubClassOf 'peripheral vascular disease' 'mesenteric vascular occlusion' SubClassOf 'peripheral vascular disease' http://purl.obolibrary.org/obo/MONDO_0010498 MEND syndrome 'MEND syndrome' SubClassOf 'sterol biosynthesis disorder' 'MEND syndrome' SubClassOf 'sterol biosynthesis disorder' http://purl.obolibrary.org/obo/MONDO_0010490 SSR4-congenital disorder of glycosylation 'SSR4-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'SSR4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'SSR4-congenital disorder of glycosylation' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SSR4-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'SSR4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'SSR4-congenital disorder of glycosylation' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001053 myoclonic cerebellar dyssynergia 'myoclonic cerebellar dyssynergia' SubClassOf 'inherited neurodegenerative disorder' 'myoclonic cerebellar dyssynergia' SubClassOf 'cerebelloparenchymal disorder' 'myoclonic cerebellar dyssynergia' SubClassOf 'disease shares features of' some 'myoclonic cerebellar dyssynergia' 'myoclonic cerebellar dyssynergia' SubClassOf 'inherited neurodegenerative disorder' 'myoclonic cerebellar dyssynergia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'myoclonic cerebellar dyssynergia' 'myoclonic cerebellar dyssynergia' SubClassOf 'cerebelloparenchymal disorder' http://www.ebi.ac.uk/efo/EFO_1001052 myeloid sarcoma 'myeloid sarcoma' SubClassOf 'disease has location' some 'myeloid cell' 'myeloid sarcoma' SubClassOf 'acute myeloid leukemia by FAB classification' 'myeloid sarcoma' SubClassOf 'sarcoma' 'myeloid sarcoma' SubClassOf 'acute myeloid leukemia by FAB classification' 'myeloid sarcoma' SubClassOf 'disease has location' some 'myeloid cell' 'myeloid sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_1001051 mycosis fungoides 'mycosis fungoides' SubClassOf 'Cutaneous T-cell lymphoma' 'mycosis fungoides' SubClassOf 'mycosis fungoides and variants' 'mycosis fungoides' SubClassOf 'Cutaneous T-cell lymphoma' 'mycosis fungoides' SubClassOf 'mycosis fungoides and variants' http://www.ebi.ac.uk/efo/EFO_1001050 multiple system atrophy 'multiple system atrophy' SubClassOf 'synucleinopathy' 'multiple system atrophy' SubClassOf 'synucleinopathy' http://www.ebi.ac.uk/efo/EFO_1001059 neonatal myasthenia gravis 'neonatal myasthenia gravis' SubClassOf 'Myasthenia gravis' 'neonatal myasthenia gravis' SubClassOf 'Myasthenia gravis' http://www.ebi.ac.uk/efo/EFO_1001058 necrotizing ulcerative gingivitis 'necrotizing ulcerative gingivitis' SubClassOf 'gingivitis' 'necrotizing ulcerative gingivitis' SubClassOf 'gingivitis' http://www.ebi.ac.uk/efo/EFO_1001057 necrotizing sialometaplasia 'necrotizing sialometaplasia' SubClassOf 'salivary gland disease' 'necrotizing sialometaplasia' SubClassOf 'salivary gland disease' http://www.ebi.ac.uk/efo/EFO_1001056 myxosarcoma 'myxosarcoma' SubClassOf 'soft tissue sarcoma' 'myxosarcoma' SubClassOf 'soft tissue sarcoma' http://www.ebi.ac.uk/efo/EFO_1001055 myxedema 'myxedema' SubClassOf 'hypothyroidism' 'myxedema' SubClassOf 'hypothyroidism' http://www.ebi.ac.uk/efo/EFO_1001054 myofascial pain syndrome 'myofascial pain syndrome' SubClassOf 'myopathy' 'myofascial pain syndrome' SubClassOf 'myopathy' http://www.ebi.ac.uk/efo/EFO_1001064 non-gestational choriocarcinoma 'non-gestational choriocarcinoma' SubClassOf 'choriocarcinoma' 'non-gestational choriocarcinoma' SubClassOf 'choriocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001063 noma 'noma' SubClassOf 'ulcerative stomatitis' 'noma' SubClassOf 'bacterial disease' 'noma' SubClassOf 'ulcerative stomatitis' 'noma' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001062 nodular goiter 'nodular goiter' SubClassOf 'goiter' 'nodular goiter' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_1001061 neurogenic bowel 'neurogenic bowel' SubClassOf 'intestinal disease' 'neurogenic bowel' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_1001060 neovascular glaucoma 'neovascular glaucoma' SubClassOf 'glaucoma' 'neovascular glaucoma' SubClassOf 'glaucoma' http://www.ebi.ac.uk/efo/EFO_1001069 ocular hypertension 'ocular hypertension' SubClassOf 'hypertension' 'ocular hypertension' SubClassOf 'eye disease' 'ocular hypertension' SubClassOf 'hypertension' 'ocular hypertension' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1001068 obstructive jaundice 'obstructive jaundice' SubClassOf 'cholestasis' 'obstructive jaundice' SubClassOf 'Non-Neoplastic Bile Duct Disorder' 'obstructive jaundice' SubClassOf 'cholestasis' 'obstructive jaundice' SubClassOf 'Non-Neoplastic Bile Duct Disorder' http://www.ebi.ac.uk/efo/EFO_1001067 nutritional deficiency disease 'nutritional deficiency disease' SubClassOf 'nutritional disorder' 'nutritional deficiency disease' SubClassOf 'nutritional disorder' http://www.ebi.ac.uk/efo/EFO_1001065 normal pressure hydrocephalus 'normal pressure hydrocephalus' SubClassOf 'communicating hydrocephalus' 'normal pressure hydrocephalus' SubClassOf 'communicating hydrocephalus' http://www.ebi.ac.uk/efo/EFO_1001075 oral leukoedema 'oral leukoedema' SubClassOf 'mouth disease' 'oral leukoedema' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_1001074 optic papillitis 'optic papillitis' SubClassOf 'optic neuritis' 'optic papillitis' SubClassOf 'optic neuritis' http://www.ebi.ac.uk/efo/EFO_1001073 optic nerve neoplasm 'optic nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'optic nerve neoplasm' SubClassOf 'optic nerve disorder' 'optic nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'optic nerve neoplasm' SubClassOf 'optic nerve disorder' http://www.ebi.ac.uk/efo/EFO_1001072 opportunistic Moraxellaceae infectious disease 'opportunistic Moraxellaceae infectious disease' SubClassOf 'gram-negative bacterial infections' 'opportunistic Moraxellaceae infectious disease' SubClassOf 'gram-negative bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001071 oophoritis 'oophoritis' SubClassOf 'ovarian disease' 'oophoritis' SubClassOf 'inflammatory disease' 'oophoritis' SubClassOf 'ovarian disease' 'oophoritis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001070 ocular tuberculosis 'ocular tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'ocular tuberculosis' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_1001079 oxyphilic adenoma 'oxyphilic adenoma' SubClassOf 'adenoma' 'oxyphilic adenoma' SubClassOf 'oncocytic neoplasm' 'oxyphilic adenoma' SubClassOf 'adenoma' 'oxyphilic adenoma' SubClassOf 'oncocytic neoplasm' http://www.ebi.ac.uk/efo/EFO_1001078 orchitis 'orchitis' SubClassOf 'testicular disease' 'orchitis' SubClassOf 'inflammatory disease' 'orchitis' SubClassOf 'testicular disease' 'orchitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001076 orbital cellulitis 'orbital cellulitis' SubClassOf 'cellulitis' 'orbital cellulitis' SubClassOf 'acute orbital inflammation' 'orbital cellulitis' SubClassOf 'cellulitis' 'orbital cellulitis' SubClassOf 'acute orbital inflammation' http://www.ebi.ac.uk/efo/EFO_1001086 paraphimosis 'paraphimosis' SubClassOf 'phimosis' 'paraphimosis' SubClassOf 'phimosis' http://www.ebi.ac.uk/efo/EFO_1001085 paraneoplastic polyneuropathy 'paraneoplastic polyneuropathy' SubClassOf 'polyneuropathy' 'paraneoplastic polyneuropathy' SubClassOf 'polyneuropathy' http://www.ebi.ac.uk/efo/EFO_1001084 parametritis 'parametritis' SubClassOf 'Pelvic Inflammatory Disease' 'parametritis' SubClassOf 'Pelvic Inflammatory Disease' http://www.ebi.ac.uk/efo/EFO_1001083 papillary follicular thyroid adenocarcinoma 'papillary follicular thyroid adenocarcinoma' SubClassOf 'follicular thyroid carcinoma' 'papillary follicular thyroid adenocarcinoma' SubClassOf 'papillary thyroid carcinoma' 'papillary follicular thyroid adenocarcinoma' SubClassOf 'follicular thyroid carcinoma' 'papillary follicular thyroid adenocarcinoma' SubClassOf 'papillary thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_1001082 panuveitis 'panuveitis' SubClassOf 'uveitis' 'panuveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1001081 panophthalmitis 'panophthalmitis' SubClassOf 'purulent endophthalmitis' 'panophthalmitis' SubClassOf 'scleritis' 'panophthalmitis' SubClassOf 'purulent endophthalmitis' 'panophthalmitis' SubClassOf 'scleritis' http://www.ebi.ac.uk/efo/EFO_1001080 Pancoast tumor 'Pancoast tumor' SubClassOf 'pulmonary sulcus neoplasm' 'Pancoast tumor' SubClassOf 'lung cancer' 'Pancoast tumor' SubClassOf 'pulmonary sulcus neoplasm' 'Pancoast tumor' SubClassOf 'lung cancer' http://www.ebi.ac.uk/efo/EFO_1001089 partial motor epilepsy 'partial motor epilepsy' SubClassOf 'partial epilepsy' 'partial motor epilepsy' SubClassOf 'partial epilepsy' http://www.ebi.ac.uk/efo/EFO_1001088 pars planitis 'pars planitis' SubClassOf 'intermediate uveitis' 'pars planitis' SubClassOf 'chorioretinitis' 'pars planitis' SubClassOf 'intermediate uveitis' 'pars planitis' SubClassOf 'chorioretinitis' http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma 'parathyroid adenoma' SubClassOf 'benign neoplasm of parathyroid gland' 'parathyroid adenoma' SubClassOf 'adenoma' 'parathyroid adenoma' SubClassOf 'benign neoplasm of parathyroid gland' 'parathyroid adenoma' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_1001097 periarthritis 'periarthritis' SubClassOf 'arthritis' 'periarthritis' SubClassOf 'bursitis' 'periarthritis' SubClassOf 'arthritis' 'periarthritis' SubClassOf 'bursitis' http://www.ebi.ac.uk/efo/EFO_1001096 periapical granuloma 'periapical granuloma' SubClassOf 'Periapical Periodontitis' 'periapical granuloma' SubClassOf 'Periapical Periodontitis' http://www.ebi.ac.uk/efo/EFO_1001095 peptic esophagitis 'peptic esophagitis' SubClassOf 'peptic ulcer disease' 'peptic esophagitis' SubClassOf 'esophagitis' 'peptic esophagitis' SubClassOf 'peptic ulcer disease' 'peptic esophagitis' SubClassOf 'esophagitis' http://www.ebi.ac.uk/efo/EFO_1001094 penile neoplasm 'penile neoplasm' SubClassOf 'penile disorder' 'penile neoplasm' SubClassOf 'penile disorder' http://www.ebi.ac.uk/efo/EFO_1001093 Pelger-Huet anomaly 'Pelger-Huet anomaly' SubClassOf 'laminopathy' 'Pelger-Huet anomaly' SubClassOf 'autosomal dominant disease' 'Pelger-Huet anomaly' SubClassOf 'laminopathy' 'Pelger-Huet anomaly' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_1001092 patellofemoral pain syndrome 'patellofemoral pain syndrome' SubClassOf 'joint disease' 'patellofemoral pain syndrome' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1001090 partial sensory epilepsy 'partial sensory epilepsy' SubClassOf 'partial epilepsy' 'partial sensory epilepsy' SubClassOf 'partial epilepsy' http://www.ebi.ac.uk/efo/EFO_1001099 perinephritis 'perinephritis' SubClassOf 'inflammatory disease' 'perinephritis' SubClassOf 'kidney disease' 'perinephritis' SubClassOf 'inflammatory disease' 'perinephritis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001098 pericoronitis 'pericoronitis' SubClassOf 'gingival disease' 'pericoronitis' SubClassOf 'periodontitis' 'pericoronitis' SubClassOf 'gingival disease' 'pericoronitis' SubClassOf 'periodontitis' http://www.ebi.ac.uk/efo/EFO_1001204 sweat gland neoplasm 'sweat gland neoplasm' SubClassOf 'epidermal appendage tumor' 'sweat gland neoplasm' SubClassOf 'sweat gland disease' 'sweat gland neoplasm' SubClassOf 'epidermal appendage tumor' 'sweat gland neoplasm' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1001203 suppurative uveitis 'suppurative uveitis' SubClassOf 'uveitis' 'suppurative uveitis' SubClassOf 'uveitis' http://www.ebi.ac.uk/efo/EFO_1001202 suppurative periapical periodontitis 'suppurative periapical periodontitis' SubClassOf 'Periapical Periodontitis' 'suppurative periapical periodontitis' SubClassOf 'Periapical Periodontitis' http://www.ebi.ac.uk/efo/EFO_1001200 sulfhemoglobinemia 'sulfhemoglobinemia' SubClassOf 'hemoglobinopathy' 'sulfhemoglobinemia' SubClassOf 'hemoglobinopathy' http://www.ebi.ac.uk/efo/EFO_1001209 temporal arteritis 'temporal arteritis' SubClassOf 'granulomatous angiitis' 'temporal arteritis' SubClassOf 'central nervous system vasculitis' 'temporal arteritis' SubClassOf 'granulomatous angiitis' 'temporal arteritis' SubClassOf 'central nervous system vasculitis' http://www.ebi.ac.uk/efo/EFO_1001208 tarsal tunnel syndrome 'tarsal tunnel syndrome' SubClassOf 'tibial neuropathy' 'tarsal tunnel syndrome' SubClassOf 'syndromic disease' 'tarsal tunnel syndrome' SubClassOf 'tibial neuropathy' 'tarsal tunnel syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001207 systolic heart failure 'systolic heart failure' SubClassOf 'congestive heart failure' 'systolic heart failure' SubClassOf 'congestive heart failure' http://www.ebi.ac.uk/efo/EFO_1001206 syphilitic aortitis 'syphilitic aortitis' SubClassOf 'syphilis' 'syphilitic aortitis' SubClassOf 'syphilis' http://www.ebi.ac.uk/efo/EFO_1001205 sympathetic ophthalmia 'sympathetic ophthalmia' SubClassOf 'non-infectious anterior uveitis' 'sympathetic ophthalmia' SubClassOf 'panuveitis' 'sympathetic ophthalmia' SubClassOf 'non-infectious anterior uveitis' 'sympathetic ophthalmia' SubClassOf 'panuveitis' http://www.ebi.ac.uk/efo/EFO_1001214 tonsil cancer 'tonsil cancer' SubClassOf 'Waldeyer's ring cancer' 'tonsil cancer' SubClassOf 'tonsil neoplasm' 'tonsil cancer' SubClassOf 'Waldeyer's ring cancer' 'tonsil cancer' SubClassOf 'tonsil neoplasm' http://www.ebi.ac.uk/efo/EFO_1001213 tibial neuropathy 'tibial neuropathy' SubClassOf 'mononeuropathy' 'tibial neuropathy' SubClassOf 'mononeuropathy' http://www.ebi.ac.uk/efo/EFO_1001212 thyroid crisis 'thyroid crisis' SubClassOf 'hyperthyroidism' 'thyroid crisis' SubClassOf 'hyperthyroidism' http://www.ebi.ac.uk/efo/EFO_1001211 thromboangiitis obliterans 'thromboangiitis obliterans' SubClassOf 'peripheral vascular disease' 'thromboangiitis obliterans' SubClassOf 'inflammatory disease' 'thromboangiitis obliterans' SubClassOf 'peripheral vascular disease' 'thromboangiitis obliterans' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001210 tethered spinal cord syndrome 'tethered spinal cord syndrome' SubClassOf 'syndromic disease' 'tethered spinal cord syndrome' SubClassOf 'spinal cord disease' 'tethered spinal cord syndrome' SubClassOf 'syndromic disease' 'tethered spinal cord syndrome' SubClassOf 'spinal cord disease' http://www.ebi.ac.uk/efo/EFO_1001219 trigeminal neuralgia 'trigeminal neuralgia' SubClassOf 'cranial neuralgia' 'trigeminal neuralgia' SubClassOf 'trigeminal nerve disease' 'trigeminal neuralgia' SubClassOf 'central nervous system disease' 'trigeminal neuralgia' SubClassOf 'cranial neuralgia' 'trigeminal neuralgia' SubClassOf 'trigeminal nerve disease' 'trigeminal neuralgia' SubClassOf 'central nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001218 tricuspid valve prolapse 'tricuspid valve prolapse' SubClassOf 'congenital tricuspid malformation' 'tricuspid valve prolapse' SubClassOf 'aortic disease' 'tricuspid valve prolapse' SubClassOf 'congenital tricuspid malformation' 'tricuspid valve prolapse' SubClassOf 'aortic disease' http://www.ebi.ac.uk/efo/EFO_1001217 Treponema infectious disease 'Treponema infectious disease' SubClassOf 'gram-negative bacterial infections' 'Treponema infectious disease' SubClassOf 'gram-negative bacterial infections' http://www.ebi.ac.uk/efo/EFO_1001216 tooth disease 'tooth disease' SubClassOf 'mouth disease' 'tooth disease' SubClassOf 'mouth disease' http://www.ebi.ac.uk/efo/EFO_1001226 uremia 'uremia' SubClassOf 'kidney failure' 'uremia' SubClassOf 'kidney failure' http://www.ebi.ac.uk/efo/EFO_1001225 Ureaplasma urealyticum urethritis 'Ureaplasma urealyticum urethritis' SubClassOf 'urethritis' 'Ureaplasma urealyticum urethritis' SubClassOf 'urethritis' http://www.ebi.ac.uk/efo/EFO_1001224 ulnar neuropathy 'ulnar neuropathy' SubClassOf 'mononeuropathy' 'ulnar neuropathy' SubClassOf 'mononeuropathy' http://www.ebi.ac.uk/efo/EFO_1001223 ulcerative proctosigmoiditis 'ulcerative proctosigmoiditis' SubClassOf 'inflammatory bowel disease' 'ulcerative proctosigmoiditis' SubClassOf 'inflammatory bowel disease' http://www.ebi.ac.uk/efo/EFO_1001222 type III hypersensitivity reaction disease 'type III hypersensitivity reaction disease' SubClassOf 'hypersensitivity reaction disease' 'type III hypersensitivity reaction disease' SubClassOf 'hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_1001221 twin-to-twin transfusion syndrome 'twin-to-twin transfusion syndrome' SubClassOf 'neonatal anemia' 'twin-to-twin transfusion syndrome' SubClassOf 'immune system disease' 'twin-to-twin transfusion syndrome' SubClassOf 'neonatal anemia' 'twin-to-twin transfusion syndrome' SubClassOf 'immune system disease' http://www.ebi.ac.uk/efo/EFO_1001220 trochlear nerve disease 'trochlear nerve disease' SubClassOf 'cranial nerve neuropathy' 'trochlear nerve disease' SubClassOf 'cranial nerve neuropathy' http://www.ebi.ac.uk/efo/EFO_1001229 maculopapular cutaneous mastocytosis 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' http://www.ebi.ac.uk/efo/EFO_1001228 ureterolithiasis 'ureterolithiasis' SubClassOf 'bladder disease' 'ureterolithiasis' SubClassOf 'ureteral disorder' 'ureterolithiasis' SubClassOf 'bladder disease' 'ureterolithiasis' SubClassOf 'ureteral disorder' http://www.ebi.ac.uk/efo/EFO_1001227 ureterocele 'ureterocele' SubClassOf 'genetic disorder' 'ureterocele' SubClassOf 'ureteral disorder' 'ureterocele' SubClassOf 'bladder disease' 'ureterocele' SubClassOf 'ureteral disorder' 'ureterocele' SubClassOf 'genetic disorder' 'ureterocele' SubClassOf 'bladder disease' http://www.ebi.ac.uk/efo/EFO_1001237 vitamin A deficiency 'vitamin A deficiency' SubClassOf 'vitamin deficiency disorder' 'vitamin A deficiency' SubClassOf 'vitamin deficiency disorder' http://www.ebi.ac.uk/efo/EFO_1001236 viral meningitis 'viral meningitis' SubClassOf 'infectious meningitis' 'viral meningitis' SubClassOf 'infectious meningitis' http://www.ebi.ac.uk/efo/EFO_1001235 Vibrio infectious disease 'Vibrio infectious disease' SubClassOf 'bacterial disease' 'Vibrio infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001234 vasculogenic impotence 'vasculogenic impotence' SubClassOf 'erectile dysfunction' 'vasculogenic impotence' SubClassOf 'erectile dysfunction' http://www.ebi.ac.uk/efo/EFO_1001233 variant Creutzfeldt-Jakob disease 'variant Creutzfeldt-Jakob disease' SubClassOf 'acquired Creutzfeldt-Jakob disease' 'variant Creutzfeldt-Jakob disease' SubClassOf 'acquired Creutzfeldt-Jakob disease' http://www.ebi.ac.uk/efo/EFO_1001232 uveoparotid fever 'uveoparotid fever' SubClassOf 'sarcoidosis' 'uveoparotid fever' SubClassOf 'sarcoidosis' http://www.ebi.ac.uk/efo/EFO_1001231 uveitis 'uveitis' SubClassOf 'uveal disorder' 'uveitis' SubClassOf 'inflammatory disease' 'uveitis' SubClassOf 'uveal disorder' 'uveitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001230 uveal cancer 'uveal cancer' SubClassOf 'uvea neoplasm' 'uveal cancer' SubClassOf 'ocular cancer' 'uveal cancer' SubClassOf 'uvea neoplasm' 'uveal cancer' SubClassOf 'ocular cancer' http://www.ebi.ac.uk/efo/EFO_1001239 vulvitis 'vulvitis' SubClassOf 'inflammatory disease' 'vulvitis' SubClassOf 'vulvar disease' 'vulvitis' SubClassOf 'inflammatory disease' 'vulvitis' SubClassOf 'vulvar disease' http://www.ebi.ac.uk/efo/EFO_1001238 vitreous detachment 'vitreous detachment' SubClassOf 'inherited vitreoretinopathy' 'vitreous detachment' SubClassOf 'vitreous disorder' 'vitreous detachment' SubClassOf 'inherited vitreoretinopathy' 'vitreous detachment' SubClassOf 'vitreous disorder' http://www.ebi.ac.uk/efo/EFO_1001240 vulvovaginitis 'vulvovaginitis' SubClassOf 'vulvitis' 'vulvovaginitis' SubClassOf 'vulvitis' http://www.ebi.ac.uk/efo/EFO_1001247 chancre 'chancre' SubClassOf 'syphilis' 'chancre' SubClassOf 'syphilis' http://www.ebi.ac.uk/efo/EFO_1001246 Yersinia pseudotuberculosis infectious disease 'Yersinia pseudotuberculosis infectious disease' SubClassOf 'Yersinia infectious disease' 'Yersinia pseudotuberculosis infectious disease' SubClassOf 'Yersinia infectious disease' http://www.ebi.ac.uk/efo/EFO_1001245 Yersinia infectious disease 'Yersinia infectious disease' SubClassOf 'bacterial disease' 'Yersinia infectious disease' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001244 xanthogranulomatous pyelonephritis 'xanthogranulomatous pyelonephritis' SubClassOf 'chronic pyelonephritis' 'xanthogranulomatous pyelonephritis' SubClassOf 'chronic pyelonephritis' http://www.ebi.ac.uk/efo/EFO_1001242 Wernicke-Korsakoff syndrome 'Wernicke-Korsakoff syndrome' SubClassOf 'syndromic disease' 'Wernicke-Korsakoff syndrome' SubClassOf 'nutritional deficiency disease' 'Wernicke-Korsakoff syndrome' SubClassOf 'syndromic disease' 'Wernicke-Korsakoff syndrome' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_1001241 Wernicke encephalopathy 'Wernicke encephalopathy' SubClassOf 'brain disease' 'Wernicke encephalopathy' SubClassOf 'alcohol-related disorders' 'Wernicke encephalopathy' SubClassOf 'brain disease' 'Wernicke encephalopathy' SubClassOf 'alcohol-related disorders' http://www.ebi.ac.uk/efo/EFO_1001249 non-alcoholic steatohepatitis 'non-alcoholic steatohepatitis' SubClassOf 'non-alcoholic fatty liver disease' 'non-alcoholic steatohepatitis' SubClassOf 'non-alcoholic fatty liver disease' http://www.ebi.ac.uk/efo/EFO_1001250 rotator cuff tear 'rotator cuff tear' SubClassOf 'skeletal muscle disorder' 'rotator cuff tear' SubClassOf 'skeletal muscle disorder' http://www.ebi.ac.uk/efo/EFO_1001254 noise-induced hearing loss 'noise-induced hearing loss' SubClassOf 'hearing loss' 'noise-induced hearing loss' SubClassOf 'hearing loss' http://www.ebi.ac.uk/efo/EFO_1001252 gastric cardia carcinoma 'gastric cardia carcinoma' SubClassOf 'cardia cancer' 'gastric cardia carcinoma' SubClassOf 'gastric carcinoma' 'gastric cardia carcinoma' SubClassOf 'cardia cancer' 'gastric cardia carcinoma' SubClassOf 'gastric carcinoma' http://www.ebi.ac.uk/efo/EFO_1001260 alcoholic psychosis 'alcoholic psychosis' SubClassOf 'alcohol-related disorders' 'alcoholic psychosis' SubClassOf 'alcohol-induced mental disorder' 'alcoholic psychosis' SubClassOf 'alcohol-related disorders' 'alcoholic psychosis' SubClassOf 'alcohol-induced mental disorder' http://www.ebi.ac.uk/efo/EFO_1001269 Arbovirus Infections 'Arbovirus Infections' SubClassOf 'viral disease' 'Arbovirus Infections' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_1001267 Aortic Coarctation 'Aortic Coarctation' SubClassOf 'genetic disorder' 'Aortic Coarctation' SubClassOf 'aortic disease' 'Aortic Coarctation' SubClassOf 'disorder of development or morphogenesis' 'Aortic Coarctation' SubClassOf 'genetic disorder' 'Aortic Coarctation' SubClassOf 'aortic disease' 'Aortic Coarctation' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_1001266 Aniseikonia 'Aniseikonia' SubClassOf 'refractive error' 'Aniseikonia' SubClassOf 'refractive error' http://www.ebi.ac.uk/efo/EFO_1001264 Anemia, Hemolytic, Autoimmune 'Anemia, Hemolytic, Autoimmune' SubClassOf 'autoimmune disorder of blood' 'Anemia, Hemolytic, Autoimmune' SubClassOf 'autoimmune disorder of blood' http://purl.obolibrary.org/obo/MONDO_0000904 complex cortical dysplasia with other brain malformations 'complex cortical dysplasia with other brain malformations' SubClassOf 'brain disease' 'complex cortical dysplasia with other brain malformations' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0000903 myoclonus-dystonia syndrome 'myoclonus-dystonia syndrome' SubClassOf 'combined dystonia' 'myoclonus-dystonia syndrome' SubClassOf 'combined dystonia' http://purl.obolibrary.org/obo/MONDO_0000919 ampulla of vater cancer 'ampulla of vater cancer' SubClassOf 'duodenum cancer' 'ampulla of vater cancer' SubClassOf 'ampulla of vater neoplasm' 'ampulla of vater cancer' SubClassOf 'duodenum cancer' 'ampulla of vater cancer' SubClassOf 'ampulla of vater neoplasm' http://purl.obolibrary.org/obo/MONDO_0000914 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 'cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1' SubClassOf 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' 'cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1' SubClassOf 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' http://purl.obolibrary.org/obo/MONDO_0000928 eyelid melanoma 'eyelid melanoma' SubClassOf 'eyelid cancer' 'eyelid melanoma' SubClassOf 'Ocular Melanoma' 'eyelid melanoma' SubClassOf 'eyelid cancer' 'eyelid melanoma' SubClassOf 'Ocular Melanoma' http://purl.obolibrary.org/obo/MONDO_0000923 interstitial emphysema 'interstitial emphysema' SubClassOf 'emphysema' 'interstitial emphysema' SubClassOf 'emphysema' http://purl.obolibrary.org/obo/MONDO_0000921 ampulla of vater neoplasm 'ampulla of vater neoplasm' SubClassOf 'tumor of duodenum' 'ampulla of vater neoplasm' SubClassOf 'tumor of duodenum' http://purl.obolibrary.org/obo/MONDO_0000920 duodenum cancer 'duodenum cancer' SubClassOf 'small intestine cancer' 'duodenum cancer' SubClassOf 'tumor of duodenum' 'duodenum cancer' SubClassOf 'small intestine cancer' 'duodenum cancer' SubClassOf 'tumor of duodenum' http://purl.obolibrary.org/obo/MONDO_0000926 eye accommodation disease 'eye accommodation disease' SubClassOf 'eye disease' 'eye accommodation disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0000924 compensatory emphysema 'compensatory emphysema' SubClassOf 'emphysema' 'compensatory emphysema' SubClassOf 'emphysema' http://purl.obolibrary.org/obo/MONDO_0000934 laryngeal leiomyoma 'laryngeal leiomyoma' SubClassOf 'leiomyoma' 'laryngeal leiomyoma' SubClassOf 'benign laryngeal neoplasm' 'laryngeal leiomyoma' SubClassOf 'leiomyoma' 'laryngeal leiomyoma' SubClassOf 'benign laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0000931 endometrial disorder 'endometrial disorder' SubClassOf 'uterine disorder' 'endometrial disorder' SubClassOf 'uterine disorder' http://purl.obolibrary.org/obo/MONDO_0000938 gastric leiomyoma 'gastric leiomyoma' SubClassOf 'leiomyoma' 'gastric leiomyoma' SubClassOf 'benign neoplasm of stomach' 'gastric leiomyoma' SubClassOf 'leiomyoma' 'gastric leiomyoma' SubClassOf 'benign neoplasm of stomach' http://purl.obolibrary.org/obo/MONDO_0000937 syphilitic encephalitis 'syphilitic encephalitis' SubClassOf 'infectious encephalitis' 'syphilitic encephalitis' SubClassOf 'infectious encephalitis' http://purl.obolibrary.org/obo/MONDO_0000935 larynx squamous papilloma 'larynx squamous papilloma' SubClassOf 'benign laryngeal neoplasm' 'larynx squamous papilloma' SubClassOf 'squamous papilloma' 'larynx squamous papilloma' SubClassOf 'benign laryngeal neoplasm' 'larynx squamous papilloma' SubClassOf 'squamous papilloma' http://purl.obolibrary.org/obo/MONDO_0000941 eyelid degenerative disorder 'eyelid degenerative disorder' SubClassOf 'eyelid disease' 'eyelid degenerative disorder' SubClassOf 'eyelid disease' http://www.orpha.net/ORDO/Orphanet_2053 Freeman-Sheldon syndrome 'Freeman-Sheldon syndrome' SubClassOf 'distal arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf 'syndromic disease' 'Freeman-Sheldon syndrome' SubClassOf 'arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Freeman-Sheldon syndrome' SubClassOf 'distal arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf 'syndromic disease' 'Freeman-Sheldon syndrome' SubClassOf 'arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0000945 venous insufficiency 'venous insufficiency' SubClassOf 'vein disorder' 'venous insufficiency' SubClassOf 'vein disorder' http://purl.obolibrary.org/obo/MONDO_0000944 cerebral artery occlusion 'cerebral artery occlusion' SubClassOf 'cerebrovascular disorder' 'cerebral artery occlusion' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0024913 cattle disease 'cattle disease' SubClassOf 'animal disease' 'cattle disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0000949 conjunctival degeneration 'conjunctival degeneration' SubClassOf 'Conjunctival Disorder' 'conjunctival degeneration' SubClassOf 'Conjunctival Disorder' http://purl.obolibrary.org/obo/MONDO_0000947 psychosexual disorder 'psychosexual disorder' SubClassOf 'sexual and gender identity disorders' 'psychosexual disorder' SubClassOf 'mental or behavioural disorder' 'psychosexual disorder' SubClassOf 'sexual and gender identity disorders' 'psychosexual disorder' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/MONDO_0000956 small intestine cancer 'small intestine cancer' SubClassOf 'intestinal cancer' 'small intestine cancer' SubClassOf 'small intestine neoplasm' 'small intestine cancer' SubClassOf 'intestinal cancer' 'small intestine cancer' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/MONDO_0000955 ileum cancer 'ileum cancer' SubClassOf 'small intestine cancer' 'ileum cancer' SubClassOf 'small intestine cancer' http://purl.obolibrary.org/obo/MONDO_0024905 bird disease 'bird disease' SubClassOf 'animal disease' 'bird disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease 'malignant hypertensive renal disease' SubClassOf 'malignant hypertension' 'malignant hypertensive renal disease' SubClassOf 'hypertensive nephropathy' 'malignant hypertensive renal disease' SubClassOf 'malignant hypertension' 'malignant hypertensive renal disease' SubClassOf 'hypertensive nephropathy' http://purl.obolibrary.org/obo/MONDO_0000963 esophageal lipoma 'esophageal lipoma' SubClassOf 'benign neoplasm of esophagus' 'esophageal lipoma' SubClassOf 'lipoma' 'esophageal lipoma' SubClassOf 'benign neoplasm of esophagus' 'esophageal lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0000962 spindle cell lipoma 'spindle cell lipoma' SubClassOf 'lipoma' 'spindle cell lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0024934 fish disease 'fish disease' SubClassOf 'animal disease' 'fish disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0000965 liver lipoma 'liver lipoma' SubClassOf 'hepatobiliary benign neoplasm' 'liver lipoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'liver lipoma' SubClassOf 'lipoma' 'liver lipoma' SubClassOf 'hepatobiliary benign neoplasm' 'liver lipoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'liver lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0000964 skin lipoma 'skin lipoma' SubClassOf 'lipoma' 'skin lipoma' SubClassOf 'benign neoplasm of skin' 'skin lipoma' SubClassOf 'benign neoplasm of skin' 'skin lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0000969 pleural lipoma 'pleural lipoma' SubClassOf 'benign neoplasm of pleura' 'pleural lipoma' SubClassOf 'lipoma' 'pleural lipoma' SubClassOf 'benign neoplasm of pleura' 'pleural lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0000968 kidney lipoma 'kidney lipoma' SubClassOf 'lipoma' 'kidney lipoma' SubClassOf 'kidney benign neoplasm' 'kidney lipoma' SubClassOf 'lipoma' 'kidney lipoma' SubClassOf 'kidney benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000970 breast lipoma 'breast lipoma' SubClassOf 'lipoma' 'breast lipoma' SubClassOf 'breast benign neoplasm' 'breast lipoma' SubClassOf 'lipoma' 'breast lipoma' SubClassOf 'breast benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000973 external ear lipoma 'external ear lipoma' SubClassOf 'benign neoplasm of ear' 'external ear lipoma' SubClassOf 'external ear neoplasm' 'external ear lipoma' SubClassOf 'lipoma' 'external ear lipoma' SubClassOf 'benign neoplasm of ear' 'external ear lipoma' SubClassOf 'external ear neoplasm' 'external ear lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0000972 gallbladder lipoma 'gallbladder lipoma' SubClassOf 'lipoma' 'gallbladder lipoma' SubClassOf 'benign neoplasm of gallbladder' 'gallbladder lipoma' SubClassOf 'lipoma' 'gallbladder lipoma' SubClassOf 'benign neoplasm of gallbladder' http://purl.obolibrary.org/obo/MONDO_0009306 combined immunodeficiency with skin granulomas 'combined immunodeficiency with skin granulomas' SubClassOf 'T-B- severe combined immunodeficiency' 'combined immunodeficiency with skin granulomas' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009305 granulocytopenia with immunoglobulin abnormality 'granulocytopenia with immunoglobulin abnormality' SubClassOf 'genetic disorder' 'granulocytopenia with immunoglobulin abnormality' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009302 XY type gonadal dysgenesis-associated anomalies syndrome 'XY type gonadal dysgenesis-associated anomalies syndrome' SubClassOf '46,XY disorder of sex development' 'XY type gonadal dysgenesis-associated anomalies syndrome' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0009300 Perrault syndrome 1 'Perrault syndrome 1' SubClassOf 'Perrault syndrome' 'Perrault syndrome 1' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0000978 extrahepatic bile duct lipoma 'extrahepatic bile duct lipoma' SubClassOf 'extrahepatic bile duct neoplasm' 'extrahepatic bile duct lipoma' SubClassOf 'extrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0000981 Histoplasma pericarditis 'Histoplasma pericarditis' SubClassOf 'histoplasmosis' 'Histoplasma pericarditis' SubClassOf 'pericarditis' 'Histoplasma pericarditis' SubClassOf 'histoplasmosis' 'Histoplasma pericarditis' SubClassOf 'pericarditis' http://purl.obolibrary.org/obo/MONDO_0000980 aortic atherosclerosis 'aortic atherosclerosis' SubClassOf 'aortic disease' 'aortic atherosclerosis' SubClassOf 'atherosclerosis' 'aortic atherosclerosis' SubClassOf 'aortic disease' 'aortic atherosclerosis' SubClassOf 'atherosclerosis' http://purl.obolibrary.org/obo/MONDO_0024950 horse disease 'horse disease' SubClassOf 'animal disease' 'horse disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0009319 pantothenate kinase-associated neurodegeneration 'pantothenate kinase-associated neurodegeneration' SubClassOf 'neuroacanthocytosis' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'neuroacanthocytosis' 'pantothenate kinase-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0009318 Hallermann-Streiff syndrome 'Hallermann-Streiff syndrome' SubClassOf 'premature aging syndrome' 'Hallermann-Streiff syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'Hallermann-Streiff syndrome' SubClassOf 'premature aging syndrome' 'Hallermann-Streiff syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0009315 congenital factor XII deficiency 'congenital factor XII deficiency' SubClassOf 'inherited blood coagulation disorder' 'congenital factor XII deficiency' SubClassOf 'autosomal genetic disease' 'congenital factor XII deficiency' SubClassOf 'coagulation protein disease' 'congenital factor XII deficiency' SubClassOf 'hemorrhagic disease' 'congenital factor XII deficiency' SubClassOf 'inherited blood coagulation disorder' 'congenital factor XII deficiency' SubClassOf 'autosomal genetic disease' 'congenital factor XII deficiency' SubClassOf 'coagulation protein disease' 'congenital factor XII deficiency' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0009313 Grubben-de Cock-Borghgraef syndrome 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'syndromic disease' 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010306 X-linked intellectual disability, Cabezas type 'X-linked intellectual disability, Cabezas type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cabezas type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Cabezas type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cabezas type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009312 lipodystrophy due to peptidic growth factors deficiency 'lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'hereditary lipodystrophy' 'lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'hereditary lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0010305 creatine transporter deficiency 'creatine transporter deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'creatine transporter deficiency' SubClassOf 'cerebral creatine deficiency syndrome' 'creatine transporter deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'creatine transporter deficiency' SubClassOf 'cerebral creatine deficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0010308 thrombocytopenia, X-linked, with or without dyserythropoietic anemia 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia, X-linked, with or without dyserythropoietic anemia' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0010302 Ito hypomelanosis 'Ito hypomelanosis' SubClassOf 'hypopigmentation of the skin' 'Ito hypomelanosis' SubClassOf 'ectodermal dysplasia syndrome' 'Ito hypomelanosis' SubClassOf 'hypopigmentation of the skin' 'Ito hypomelanosis' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0000988 discharging ear 'discharging ear' SubClassOf 'auditory system disease' 'discharging ear' SubClassOf 'auditory system disease' http://purl.obolibrary.org/obo/MONDO_0000992 heart conduction disease 'heart conduction disease' SubClassOf 'heart disease' 'heart conduction disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0000996 prostate lymphoma 'prostate lymphoma' SubClassOf 'prostate cancer' 'prostate lymphoma' SubClassOf 'lymphoma' 'prostate lymphoma' SubClassOf 'prostate cancer' 'prostate lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0000995 familial periodic paralysis 'familial periodic paralysis' SubClassOf 'inborn metal metabolism disorder' 'familial periodic paralysis' SubClassOf 'inborn metal metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0009329 pulmonary venoocclusive disease 2 'pulmonary venoocclusive disease 2' SubClassOf 'pulmonary venoocclusive disease' 'pulmonary venoocclusive disease 2' SubClassOf 'pulmonary venoocclusive disease' http://purl.obolibrary.org/obo/MONDO_0000993 prostate squamous cell carcinoma 'prostate squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'prostate squamous cell carcinoma' SubClassOf 'prostate carcinoma' 'prostate squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'prostate squamous cell carcinoma' SubClassOf 'prostate carcinoma' http://purl.obolibrary.org/obo/MONDO_0009326 congenital heart block 'congenital heart block' SubClassOf 'atrioventricular block' 'congenital heart block' SubClassOf 'atrioventricular block' http://purl.obolibrary.org/obo/MONDO_0009324 Hartnup disease 'Hartnup disease' SubClassOf 'inborn disorder of amino acid transport' 'Hartnup disease' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0010317 intellectual disability, X-linked, with or without seizures, arx-related 'intellectual disability, X-linked, with or without seizures, arx-related' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked, with or without seizures, arx-related' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010319 syndromic X-linked intellectual disability Hedera type 'syndromic X-linked intellectual disability Hedera type' SubClassOf 'ATP6AP2-related disorder' 'syndromic X-linked intellectual disability Hedera type' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' 'syndromic X-linked intellectual disability Hedera type' SubClassOf 'ATP6AP2-related disorder' 'syndromic X-linked intellectual disability Hedera type' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0009321 hallux varus-preaxial polysyndactyly syndrome 'hallux varus-preaxial polysyndactyly syndrome' SubClassOf 'congenital limb malformation' 'hallux varus-preaxial polysyndactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0010318 FG syndrome 4 'FG syndrome 4' SubClassOf 'fg syndrome' 'FG syndrome 4' SubClassOf 'fg syndrome' http://purl.obolibrary.org/obo/MONDO_0009320 Hall-Riggs syndrome 'Hall-Riggs syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Hall-Riggs syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy 'Becker muscular dystrophy' SubClassOf 'muscular dystrophy' 'Becker muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010310 osteopathia striata with cranial sclerosis 'osteopathia striata with cranial sclerosis' SubClassOf 'osteopetrosis' 'osteopathia striata with cranial sclerosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0009339 congenital bile acid synthesis defect 2 'congenital bile acid synthesis defect 2' SubClassOf 'Congenital bile acid synthesis defect' 'congenital bile acid synthesis defect 2' SubClassOf 'Congenital bile acid synthesis defect' http://purl.obolibrary.org/obo/MONDO_0009338 hepatic veno-occlusive disease-immunodeficiency syndrome 'hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf 'hepatic veno-occlusive disease' 'hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf 'inborn error of immunity' 'hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf 'hepatic veno-occlusive disease' 'hepatic veno-occlusive disease-immunodeficiency syndrome' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0010325 X-linked intellectual disability, Stocco dos Santos type 'X-linked intellectual disability, Stocco dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stocco dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'predisposes towards' some 'atypical hemolytic-uremic syndrome' 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0010328 alpha-thalassemia-myelodysplastic syndrome 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'syndromic disease' 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'hematologic disease' 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'syndromic disease' 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0009333 mullerian derivatives-lymphangiectasia-polydactyly syndrome 'mullerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf 'primary lymphedema' 'mullerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf 'syndromic disease' 'mullerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf 'primary lymphedema' 'mullerian derivatives-lymphangiectasia-polydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009331 isolated hemihyperplasia 'isolated hemihyperplasia' SubClassOf 'overgrowth syndrome' 'isolated hemihyperplasia' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0009330 hemangiopericytoma, malignant 'hemangiopericytoma, malignant' SubClassOf 'hemangiopericytoma' 'hemangiopericytoma, malignant' SubClassOf 'solitary fibrous tumor' 'hemangiopericytoma, malignant' SubClassOf 'hemangiopericytoma' 'hemangiopericytoma, malignant' SubClassOf 'solitary fibrous tumor' http://purl.obolibrary.org/obo/MONDO_0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency 'non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'disorder of glycolysis' 'non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0010320 retinitis pigmentosa 23 'retinitis pigmentosa 23' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 23' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0010323 Atkin-Flaitz syndrome 'Atkin-Flaitz syndrome' SubClassOf 'syndromic disease' 'Atkin-Flaitz syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009348 classic Hodgkin lymphoma 'classic Hodgkin lymphoma' SubClassOf 'Hodgkins lymphoma' 'classic Hodgkin lymphoma' SubClassOf 'Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010336 orofaciodigital syndrome VIII 'orofaciodigital syndrome VIII' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome VIII' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009346 histidinuria due to a renal tubular defect 'histidinuria due to a renal tubular defect' SubClassOf 'inborn disorder of amino acid transport' 'histidinuria due to a renal tubular defect' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders 'epilepsy, X-linked 1, with variable learning disabilities and behavior disorders' SubClassOf 'epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features' 'epilepsy, X-linked 1, with variable learning disabilities and behavior disorders' SubClassOf 'X-linked syndromic intellectual disability' 'epilepsy, X-linked 1, with variable learning disabilities and behavior disorders' SubClassOf 'epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features' 'epilepsy, X-linked 1, with variable learning disabilities and behavior disorders' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009345 histidinemia 'histidinemia' SubClassOf 'inborn disorder of histidine metabolism' 'histidinemia' SubClassOf 'inborn disorder of histidine metabolism' http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'distal hereditary motor neuropathy' 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'intestinal motility disease' 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'syndromic disease' 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'intestinal motility disease' 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009342 Hirschsprung disease-hearing loss-polydactyly syndrome 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'syndromic disease' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'intestinal motility disease' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'syndromic disease' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0009341 Mowat-Wilson syndrome 'Mowat-Wilson syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'syndromic intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'monogenic epilepsy' 'Mowat-Wilson syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'syndromic intellectual disability' 'Mowat-Wilson syndrome' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0009351 homocarnosinosis 'homocarnosinosis' SubClassOf 'gamma-amino butyric acid metabolism disorder' 'homocarnosinosis' SubClassOf 'inborn disorder of peptide metabolism' 'homocarnosinosis' SubClassOf 'gamma-amino butyric acid metabolism disorder' 'homocarnosinosis' SubClassOf 'inborn disorder of peptide metabolism' http://purl.obolibrary.org/obo/MONDO_0009350 Holzgreve-Wagner-Rehder syndrome 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'syndromic disease' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'disorder of development or morphogenesis' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'disorder of development or morphogenesis' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010335 X-linked cone-rod dystrophy 3 'X-linked cone-rod dystrophy 3' SubClassOf 'CACNA1F-related retinopathy' 'X-linked cone-rod dystrophy 3' SubClassOf 'CACNA1F-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 'severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' 'severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'inherited dystonia' 'severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'inherited dystonia' 'severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://purl.obolibrary.org/obo/MONDO_0024969 parasitic disease, non-human animal 'parasitic disease, non-human animal' SubClassOf 'animal disease' 'parasitic disease, non-human animal' SubClassOf 'infectious disease, non-human animal' http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'syndromic disease' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'autosomal recessive disease' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'syndromic disease' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'autosomal recessive disease' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009356 autosomal recessive humeroradial synostosis 'autosomal recessive humeroradial synostosis' SubClassOf 'humeroradial synostosis' 'autosomal recessive humeroradial synostosis' SubClassOf 'humeroradial synostosis' http://purl.obolibrary.org/obo/MONDO_0009354 methylcobalamin deficiency type cblE 'methylcobalamin deficiency type cblE' SubClassOf 'homocystinuria without methylmalonic aciduria' 'methylcobalamin deficiency type cblE' SubClassOf 'homocystinuria without methylmalonic aciduria' http://purl.obolibrary.org/obo/MONDO_0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency 'homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'hereditary peripheral neuropathy' 'homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'homocystinuria' 'homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'disorder of folate metabolism and transport' 'homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'hereditary peripheral neuropathy' 'homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'homocystinuria' 'homocystinuria due to methylene tetrahydrofolate reductase deficiency' SubClassOf 'disorder of folate metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0024990 swine disease 'swine disease' SubClassOf 'animal disease' 'swine disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0009352 classic homocystinuria 'classic homocystinuria' SubClassOf 'homocystinuria' 'classic homocystinuria' SubClassOf 'developmental anomaly of metabolic origin' 'classic homocystinuria' SubClassOf 'homocystinuria' 'classic homocystinuria' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0009362 growth delay-hydrocephaly-lung hypoplasia syndrome 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'syndromic disease' 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'respiratory system disease' 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'syndromic disease' 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010342 autism, susceptibility to, X-linked 3 'autism, susceptibility to, X-linked 3' SubClassOf 'autism, susceptiblity to' 'autism, susceptibility to, X-linked 3' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0024985 sheep disease 'sheep disease' SubClassOf 'animal disease' 'sheep disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0010359 Dent disease type 2 'Dent disease type 2' SubClassOf 'Dent disease' 'Dent disease type 2' SubClassOf 'Dent disease' http://purl.obolibrary.org/obo/MONDO_0010358 hypophosphatemic rickets, X-linked recessive 'hypophosphatemic rickets, X-linked recessive' SubClassOf 'abnormal mineralization disorder' 'hypophosphatemic rickets, X-linked recessive' SubClassOf 'abnormal mineralization disorder' http://purl.obolibrary.org/obo/MONDO_0009367 McKusick-Kaufman syndrome 'McKusick-Kaufman syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'McKusick-Kaufman syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1' SubClassOf 'myopathy caused by variation in POMT1' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1' SubClassOf 'muscle-eye-brain disease' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1' SubClassOf 'myopathy caused by variation in POMT1' http://purl.obolibrary.org/obo/MONDO_0009363 hydrocephaly-tall stature-joint laxity syndrome 'hydrocephaly-tall stature-joint laxity syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'hydrocephaly-tall stature-joint laxity syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009373 seizures-intellectual disability due to hydroxylysinuria syndrome 'seizures-intellectual disability due to hydroxylysinuria syndrome' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' 'seizures-intellectual disability due to hydroxylysinuria syndrome' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' http://purl.obolibrary.org/obo/MONDO_0009372 encephalopathy due to hydroxykynureninuria 'encephalopathy due to hydroxykynureninuria' SubClassOf 'inborn disorder of tryptophan metabolism' 'encephalopathy due to hydroxykynureninuria' SubClassOf 'inborn disorder of tryptophan metabolism' http://purl.obolibrary.org/obo/MONDO_0009371 3-hydroxyisobutyric aciduria '3-hydroxyisobutyric aciduria' SubClassOf 'classic organic aciduria' '3-hydroxyisobutyric aciduria' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0010353 deafness-intellectual disability, Martin-Probst type syndrome 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'syndromic disease' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009370 L-2-hydroxyglutaric aciduria 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0010355 syndromic X-linked intellectual disability Claes-Jensen type 'syndromic X-linked intellectual disability Claes-Jensen type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Claes-Jensen type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Claes-Jensen type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Claes-Jensen type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010354 Allan-Herndon-Dudley syndrome 'Allan-Herndon-Dudley syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Allan-Herndon-Dudley syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010356 nephrogenic syndrome of inappropriate antidiuresis 'nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'inherited renal tubular disease' 'nephrogenic syndrome of inappropriate antidiuresis' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0024988 sex cord-stromal benign neoplasm 'sex cord-stromal benign neoplasm' SubClassOf 'benign reproductive system neoplasm' 'sex cord-stromal benign neoplasm' SubClassOf 'benign reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_1001152 renal osteodystrophy 'renal osteodystrophy' SubClassOf 'rickets' 'renal osteodystrophy' SubClassOf 'rickets' http://www.ebi.ac.uk/efo/EFO_1001150 renal artery obstruction 'renal artery obstruction' SubClassOf 'renal artery disease' 'renal artery obstruction' SubClassOf 'renal artery disease' http://www.ebi.ac.uk/efo/EFO_1001159 Rh isoimmunization 'Rh isoimmunization' SubClassOf 'blood group incompatibility' 'Rh isoimmunization' SubClassOf 'blood group incompatibility' http://purl.obolibrary.org/obo/MONDO_0009379 Rotor syndrome 'Rotor syndrome' SubClassOf 'hereditary hyperbilirubinemia' 'Rotor syndrome' SubClassOf 'hereditary hyperbilirubinemia' http://www.ebi.ac.uk/efo/EFO_1001158 retinopathy of prematurity 'retinopathy of prematurity' SubClassOf 'retinopathy' 'retinopathy of prematurity' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0009378 hyper-beta-alaninemia 'hyper-beta-alaninemia' SubClassOf 'inborn disorder of pyrimidine metabolism' 'hyper-beta-alaninemia' SubClassOf 'inborn disorder of pyrimidine metabolism' http://www.ebi.ac.uk/efo/EFO_1001157 retinal vein occlusion 'retinal vein occlusion' SubClassOf 'retinal vascular occlusion' 'retinal vein occlusion' SubClassOf 'retinal vascular occlusion' http://purl.obolibrary.org/obo/MONDO_0009377 hyperammonemia due to N-acetylglutamate synthase deficiency 'hyperammonemia due to N-acetylglutamate synthase deficiency' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'hyperammonemia due to N-acetylglutamate synthase deficiency' SubClassOf 'urea cycle disorder or inherited hyperammonemia' http://www.ebi.ac.uk/efo/EFO_1001156 retinal vasculitis 'retinal vasculitis' SubClassOf 'retinal vascular disorder' 'retinal vasculitis' SubClassOf 'vasculitis' 'retinal vasculitis' SubClassOf 'retinal vascular disorder' 'retinal vasculitis' SubClassOf 'vasculitis' http://www.ebi.ac.uk/efo/EFO_1001155 retinal drusen 'retinal drusen' SubClassOf 'degeneration of macula and posterior pole' 'retinal drusen' SubClassOf 'degeneration of macula and posterior pole' http://www.ebi.ac.uk/efo/EFO_1001154 retinal artery occlusion 'retinal artery occlusion' SubClassOf 'retinal vascular occlusion' 'retinal artery occlusion' SubClassOf 'retinal vascular occlusion' http://purl.obolibrary.org/obo/MONDO_0009374 hydroxyprolinemia 'hydroxyprolinemia' SubClassOf 'genetic disorder' 'hydroxyprolinemia' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001153 renovascular hypertension 'renovascular hypertension' SubClassOf 'renal hypertension' 'renovascular hypertension' SubClassOf 'renal hypertension' http://purl.obolibrary.org/obo/MONDO_0009384 Leydig cell hypoplasia, type 1 'Leydig cell hypoplasia, type 1' SubClassOf 'Leydig cell hypoplasia' 'Leydig cell hypoplasia, type 1' SubClassOf 'Leydig cell hypoplasia' http://purl.obolibrary.org/obo/MONDO_0010362 glycogen storage disease IXd 'glycogen storage disease IXd' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease IXd' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009383 transient familial neonatal hyperbilirubinemia 'transient familial neonatal hyperbilirubinemia' SubClassOf 'hereditary hyperbilirubinemia' 'transient familial neonatal hyperbilirubinemia' SubClassOf 'liver disease' 'transient familial neonatal hyperbilirubinemia' SubClassOf 'hereditary hyperbilirubinemia' 'transient familial neonatal hyperbilirubinemia' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0010364 X-linked intellectual disability-retinitis pigmentosa syndrome 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'partial monosomy of the short arm of chromosome X' 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'partial monosomy of the short arm of chromosome X' 'X-linked intellectual disability-retinitis pigmentosa syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009380 Dubin-Johnson syndrome 'Dubin-Johnson syndrome' SubClassOf 'syndromic disease' 'Dubin-Johnson syndrome' SubClassOf 'hereditary hyperbilirubinemia' 'Dubin-Johnson syndrome' SubClassOf 'syndromic disease' 'Dubin-Johnson syndrome' SubClassOf 'hereditary hyperbilirubinemia' http://purl.obolibrary.org/obo/MONDO_0010367 SHOX-related short stature 'SHOX-related short stature' SubClassOf 'skeletal dysplasia' 'SHOX-related short stature' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_1001162 rickettsiosis 'rickettsiosis' SubClassOf 'bacterial disease' 'rickettsiosis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1001160 rheumatic fever 'rheumatic fever' SubClassOf 'rheumatic disease' 'rheumatic fever' SubClassOf 'post-bacterial disorder' 'rheumatic fever' SubClassOf 'rheumatic disease' 'rheumatic fever' SubClassOf 'post-bacterial disorder' http://www.ebi.ac.uk/efo/EFO_1001169 scurvy 'scurvy' SubClassOf 'vitamin deficiency disorder' 'scurvy' SubClassOf 'vitamin deficiency disorder' http://www.ebi.ac.uk/efo/EFO_1001168 scrapie 'scrapie' SubClassOf 'prion disease' 'scrapie' SubClassOf 'prion disease' http://purl.obolibrary.org/obo/MONDO_0009388 hyperlysinemia 'hyperlysinemia' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' 'hyperlysinemia' SubClassOf 'inborn disorder of lysine and hydroxylysine metabolism' http://www.ebi.ac.uk/efo/EFO_1001167 scimitar syndrome 'scimitar syndrome' SubClassOf 'congenital anomaly of the great arteries' 'scimitar syndrome' SubClassOf 'congenital pulmonary venous return anomaly' 'scimitar syndrome' SubClassOf 'syndromic disease' 'scimitar syndrome' SubClassOf 'congenital anomaly of the great arteries' 'scimitar syndrome' SubClassOf 'congenital pulmonary venous return anomaly' 'scimitar syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001166 sciatic neuropathy 'sciatic neuropathy' SubClassOf 'mononeuropathy' 'sciatic neuropathy' SubClassOf 'mononeuropathy' http://purl.obolibrary.org/obo/MONDO_0009387 familial lipoprotein lipase deficiency 'familial lipoprotein lipase deficiency' SubClassOf 'familial chylomicronemia syndrome' 'familial lipoprotein lipase deficiency' SubClassOf 'familial hyperlipidemia' 'familial lipoprotein lipase deficiency' SubClassOf 'hyperlipoproteinemia' 'familial lipoprotein lipase deficiency' SubClassOf 'familial chylomicronemia syndrome' 'familial lipoprotein lipase deficiency' SubClassOf 'familial hyperlipidemia' 'familial lipoprotein lipase deficiency' SubClassOf 'hyperlipoproteinemia' http://www.ebi.ac.uk/efo/EFO_1001165 Schnitzler syndrome 'Schnitzler syndrome' SubClassOf 'autoinflammatory syndrome' 'Schnitzler syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0009395 hyperostosis corticalis generalisata 'hyperostosis corticalis generalisata' SubClassOf 'hyperostosis' 'hyperostosis corticalis generalisata' SubClassOf 'skeletal dysplasia' 'hyperostosis corticalis generalisata' SubClassOf 'hyperostosis' 'hyperostosis corticalis generalisata' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009394 juvenile Paget disease 'juvenile Paget disease' SubClassOf 'osteitis deformans' 'juvenile Paget disease' SubClassOf 'osteitis deformans' http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency 'ornithine translocase deficiency' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'ornithine translocase deficiency' SubClassOf 'syndromic disease' 'ornithine translocase deficiency' SubClassOf 'urea cycle disorder or inherited hyperammonemia' 'ornithine translocase deficiency' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010375 developmental and epileptic encephalopathy, 8 'developmental and epileptic encephalopathy, 8' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' 'developmental and epileptic encephalopathy, 8' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 8' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' 'developmental and epileptic encephalopathy, 8' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0009392 hyperopia, high 'hyperopia, high' SubClassOf 'genetic disorder' 'hyperopia, high' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010379 Brunner syndrome 'Brunner syndrome' SubClassOf 'inborn disorder of amino acid metabolism' 'Brunner syndrome' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' 'Brunner syndrome' SubClassOf 'inborn disorder of amino acid metabolism' 'Brunner syndrome' SubClassOf 'inborn disorder of neurotransmitter metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0010378 X-linked hereditary sensory and autonomic neuropathy with hearing loss 'X-linked hereditary sensory and autonomic neuropathy with hearing loss' SubClassOf 'hereditary sensory and autonomic neuropathy' 'X-linked hereditary sensory and autonomic neuropathy with hearing loss' SubClassOf 'X-linked nonsyndromic hearing loss' 'X-linked hereditary sensory and autonomic neuropathy with hearing loss' SubClassOf 'auditory neuropathy' 'X-linked hereditary sensory and autonomic neuropathy with hearing loss' SubClassOf 'hereditary sensory and autonomic neuropathy' 'X-linked hereditary sensory and autonomic neuropathy with hearing loss' SubClassOf 'X-linked nonsyndromic hearing loss' 'X-linked hereditary sensory and autonomic neuropathy with hearing loss' SubClassOf 'auditory neuropathy' http://purl.obolibrary.org/obo/MONDO_0010371 Aland island eye disease 'Aland island eye disease' SubClassOf 'CACNA1F-related retinopathy' 'Aland island eye disease' SubClassOf 'CACNA1F-related retinopathy' http://www.ebi.ac.uk/efo/EFO_1001174 secondary hypertrophic osteoarthropathy 'secondary hypertrophic osteoarthropathy' SubClassOf 'joint disease' 'secondary hypertrophic osteoarthropathy' SubClassOf 'joint disease' http://www.ebi.ac.uk/efo/EFO_1001173 secondary hyperparathyroidism 'secondary hyperparathyroidism' SubClassOf 'hyperparathyroidism' 'secondary hyperparathyroidism' SubClassOf 'hyperparathyroidism' http://www.ebi.ac.uk/efo/EFO_1001172 sebaceous gland neoplasm 'sebaceous gland neoplasm' SubClassOf 'sebaceous gland disease' 'sebaceous gland neoplasm' SubClassOf 'epidermal appendage tumor' 'sebaceous gland neoplasm' SubClassOf 'sebaceous gland disease' 'sebaceous gland neoplasm' SubClassOf 'epidermal appendage tumor' http://www.ebi.ac.uk/efo/EFO_1001171 sebaceous adenocarcinoma 'sebaceous adenocarcinoma' SubClassOf 'skin appendage carcinoma' 'sebaceous adenocarcinoma' SubClassOf 'adenocarcinoma' 'sebaceous adenocarcinoma' SubClassOf 'skin appendage carcinoma' 'sebaceous adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001179 sialadenitis 'sialadenitis' SubClassOf 'lymphadenitis' 'sialadenitis' SubClassOf 'salivary gland disease' 'sialadenitis' SubClassOf 'lymphadenitis' 'sialadenitis' SubClassOf 'salivary gland disease' http://www.ebi.ac.uk/efo/EFO_1001178 shoulder impingement syndrome 'shoulder impingement syndrome' SubClassOf 'joint disease' 'shoulder impingement syndrome' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0009397 neonatal severe primary hyperparathyroidism 'neonatal severe primary hyperparathyroidism' SubClassOf 'abnormal mineralization disorder' 'neonatal severe primary hyperparathyroidism' SubClassOf 'abnormal mineralization disorder' http://www.ebi.ac.uk/efo/EFO_1001176 sensorineural hearing loss 'sensorineural hearing loss' SubClassOf 'hearing loss' 'sensorineural hearing loss' SubClassOf 'hearing loss' http://www.ebi.ac.uk/efo/EFO_1001175 secondary Parkinson disease 'secondary Parkinson disease' SubClassOf 'disease shares features of' some 'Parkinson disease' 'secondary Parkinson disease' SubClassOf 'neurodegenerative disease' 'secondary Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Parkinson disease' 'secondary Parkinson disease' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome 'fragile X syndrome' SubClassOf 'syndromic disease' 'fragile X syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010386 immunodeficiency 33 'immunodeficiency 33' SubClassOf 'inborn error of immunity' 'immunodeficiency 33' SubClassOf 'IKBKG-related immunodeficiency with or without ectodermal dysplasia' 'immunodeficiency 33' SubClassOf 'inborn error of immunity' 'immunodeficiency 33' SubClassOf 'IKBKG-related immunodeficiency with or without ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010389 X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency 'X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'X-linked Mendelian susceptibility to mycobacterial diseases' 'X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency' SubClassOf 'X-linked Mendelian susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0010382 fragile X-associated tremor/ataxia syndrome 'fragile X-associated tremor/ataxia syndrome' SubClassOf 'X-linked cerebellar ataxia' 'fragile X-associated tremor/ataxia syndrome' SubClassOf 'syndromic disease' 'fragile X-associated tremor/ataxia syndrome' SubClassOf 'X-linked cerebellar ataxia' 'fragile X-associated tremor/ataxia syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001185 smooth muscle tumor 'smooth muscle tumor' SubClassOf 'myomatous neoplasm' 'smooth muscle tumor' SubClassOf 'myomatous neoplasm' http://www.ebi.ac.uk/efo/EFO_1001184 small cell sarcoma 'small cell sarcoma' SubClassOf 'sarcoma' 'small cell sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_1001183 skin appendage carcinoma 'skin appendage carcinoma' SubClassOf 'skin carcinoma' 'skin appendage carcinoma' SubClassOf 'epidermal appendage tumor' 'skin appendage carcinoma' SubClassOf 'skin carcinoma' 'skin appendage carcinoma' SubClassOf 'epidermal appendage tumor' http://www.ebi.ac.uk/efo/EFO_1001182 silo filler's disease 'silo filler's disease' SubClassOf 'lung disease' 'silo filler's disease' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_1001181 sigmoid neoplasm 'sigmoid neoplasm' SubClassOf 'colonic neoplasm' 'sigmoid neoplasm' SubClassOf 'colonic neoplasm' http://www.ebi.ac.uk/efo/EFO_1001180 sialolithiasis 'sialolithiasis' SubClassOf 'salivary gland disease' 'sialolithiasis' SubClassOf 'salivary gland disease' http://www.ebi.ac.uk/efo/EFO_1001189 spermatocele 'spermatocele' SubClassOf 'male reproductive system disease' 'spermatocele' SubClassOf 'male reproductive system disease' http://www.ebi.ac.uk/efo/EFO_1001187 somatostatinoma 'somatostatinoma' SubClassOf 'carcinoid tumor' 'somatostatinoma' SubClassOf 'pancreatic neuroendocrine tumor' 'somatostatinoma' SubClassOf 'carcinoid tumor' 'somatostatinoma' SubClassOf 'pancreatic neuroendocrine tumor' http://www.ebi.ac.uk/efo/EFO_1001186 Sneddon syndrome 'Sneddon syndrome' SubClassOf 'skin vascular disease' 'Sneddon syndrome' SubClassOf 'deficiency of adenosine deaminase 2' 'Sneddon syndrome' SubClassOf 'arterial disorder' 'Sneddon syndrome' SubClassOf 'skin vascular disease' 'Sneddon syndrome' SubClassOf 'deficiency of adenosine deaminase 2' 'Sneddon syndrome' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0010395 phosphoribosylpyrophosphate synthetase superactivity 'phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'inborn disorder of purine metabolism' 'phosphoribosylpyrophosphate synthetase superactivity' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly 'severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Mendelian encephalopathy' 'severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'neonatal epilepsy syndrome' 'severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'monogenic epilepsy' 'severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'Mendelian encephalopathy' 'severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'neonatal epilepsy syndrome' 'severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0010396 developmental and epileptic encephalopathy, 2 'developmental and epileptic encephalopathy, 2' SubClassOf 'atypical Rett syndrome' 'developmental and epileptic encephalopathy, 2' SubClassOf 'monogenic epilepsy' 'developmental and epileptic encephalopathy, 2' SubClassOf 'West syndrome' 'developmental and epileptic encephalopathy, 2' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 2' SubClassOf 'atypical Rett syndrome' 'developmental and epileptic encephalopathy, 2' SubClassOf 'monogenic epilepsy' 'developmental and epileptic encephalopathy, 2' SubClassOf 'West syndrome' 'developmental and epileptic encephalopathy, 2' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0010399 chromosome Xp21 deletion syndrome 'chromosome Xp21 deletion syndrome' SubClassOf 'inborn glycerol kinase deficiency' 'chromosome Xp21 deletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome X' 'chromosome Xp21 deletion syndrome' SubClassOf 'inborn glycerol kinase deficiency' 'chromosome Xp21 deletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0010390 ocular albinism with late-onset sensorineural deafness 'ocular albinism with late-onset sensorineural deafness' SubClassOf 'ocular albinism' 'ocular albinism with late-onset sensorineural deafness' SubClassOf 'ocular albinism' http://purl.obolibrary.org/obo/MONDO_0010393 intellectual disability, X-linked 93 'intellectual disability, X-linked 93' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 93' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disorder of glycolysis' 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disorder of glycolysis' http://www.ebi.ac.uk/efo/EFO_1001196 subdural empyema 'subdural empyema' SubClassOf 'empyema' 'subdural empyema' SubClassOf 'empyema' http://www.ebi.ac.uk/efo/EFO_1001195 subclavian steal syndrome 'subclavian steal syndrome' SubClassOf 'syndromic disease' 'subclavian steal syndrome' SubClassOf 'cerebrovascular disorder' 'subclavian steal syndrome' SubClassOf 'syndromic disease' 'subclavian steal syndrome' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_1001193 subacute bacterial endocarditis 'subacute bacterial endocarditis' SubClassOf 'infective endocarditis' 'subacute bacterial endocarditis' SubClassOf 'infective endocarditis' http://www.ebi.ac.uk/efo/EFO_1001192 struma ovarii 'struma ovarii' SubClassOf 'ovarian monodermal and highly specialized teratoma' 'struma ovarii' SubClassOf 'ovarian monodermal and highly specialized teratoma' http://www.ebi.ac.uk/efo/EFO_1001190 splenic infarction 'splenic infarction' SubClassOf 'splenic disease' 'splenic infarction' SubClassOf 'splenic disease' http://www.ebi.ac.uk/efo/EFO_1001199 subvalvular aortic stenosis 'subvalvular aortic stenosis' SubClassOf 'aortic valve stenosis' 'subvalvular aortic stenosis' SubClassOf 'aortic valve stenosis' http://www.ebi.ac.uk/efo/EFO_1001198 substernal goiter 'substernal goiter' SubClassOf 'goiter' 'substernal goiter' SubClassOf 'goiter' http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process 'purine-containing compound metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process 'purine-containing compound biosynthetic process' SubClassOf 'organic cyclic compound biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0000819 anencephaly 'anencephaly' SubClassOf 'congenital nervous system disorder' 'anencephaly' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000816 abdominal obesity-metabolic syndrome 'abdominal obesity-metabolic syndrome' SubClassOf 'syndromic disease' 'abdominal obesity-metabolic syndrome' SubClassOf 'overnutrition' 'abdominal obesity-metabolic syndrome' SubClassOf 'syndromic disease' 'abdominal obesity-metabolic syndrome' SubClassOf 'overnutrition' http://purl.obolibrary.org/obo/MONDO_0000820 cerebral cavernous malformation 'cerebral cavernous malformation' SubClassOf 'congenital nervous system disorder' 'cerebral cavernous malformation' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000824 congenital diarrhea 'congenital diarrhea' SubClassOf 'diarrheal disease' 'congenital diarrhea' SubClassOf 'diarrheal disease' http://purl.obolibrary.org/obo/MONDO_0000828 juvenile-onset Parkinson disease 'juvenile-onset Parkinson disease' SubClassOf 'young-onset Parkinson disease' 'juvenile-onset Parkinson disease' SubClassOf 'young-onset Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0000827 salmonellosis 'salmonellosis' SubClassOf 'primary bacterial infectious disease' 'salmonellosis' SubClassOf 'primary bacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0000831 thrombotic disease 'thrombotic disease' SubClassOf 'vascular disease' 'thrombotic disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0000836 disease of bone structure 'disease of bone structure' SubClassOf 'disease has major feature' some 'Abnormal skeletal morphology' 'disease of bone structure' SubClassOf 'bone disease' 'disease of bone structure' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal skeletal morphology' 'disease of bone structure' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0024813 pulmonary sulcus neoplasm 'pulmonary sulcus neoplasm' SubClassOf 'lung neoplasm' 'pulmonary sulcus neoplasm' SubClassOf 'lung neoplasm' http://purl.obolibrary.org/obo/MONDO_0000845 fibrous dysplasia 'fibrous dysplasia' SubClassOf 'bone remodeling disease' 'fibrous dysplasia' SubClassOf 'bone remodeling disease' http://purl.obolibrary.org/obo/MONDO_0000858 neuronal intestinal dysplasia 'neuronal intestinal dysplasia' SubClassOf 'colonic disorder' 'neuronal intestinal dysplasia' SubClassOf 'colonic disorder' http://purl.obolibrary.org/obo/MONDO_0000863 myopathy, lactic acidosis, and sideroblastic anemia 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'inherited sideroblastic anemia' 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'inborn mitochondrial myopathy' 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'inborn mitochondrial myopathy' 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'inherited sideroblastic anemia' http://purl.obolibrary.org/obo/MONDO_0000866 hereditary myoglobinuria 'hereditary myoglobinuria' SubClassOf 'myopathy' 'hereditary myoglobinuria' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0000870 childhood acute lymphoblastic leukemia 'childhood acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'childhood acute lymphoblastic leukemia' SubClassOf 'childhood leukemia' 'childhood acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'childhood acute lymphoblastic leukemia' SubClassOf 'childhood leukemia' http://purl.obolibrary.org/obo/MONDO_0009209 autosomal recessive faciodigitogenital syndrome 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'faciodigitogenital syndrome' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'faciodigitogenital syndrome' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0000873 lymphoblastic lymphoma 'lymphoblastic lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'lymphoblastic lymphoma' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' 'lymphoblastic lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'lymphoblastic lymphoma' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' http://purl.obolibrary.org/obo/MONDO_0009206 factor V and factor VIII, combined deficiency of, type 1 'factor V and factor VIII, combined deficiency of, type 1' SubClassOf 'combined deficiency of factor V and factor VIII' 'factor V and factor VIII, combined deficiency of, type 1' SubClassOf 'combined deficiency of factor V and factor VIII' http://purl.obolibrary.org/obo/MONDO_0009205 faciocardiorenal syndrome 'faciocardiorenal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'faciocardiorenal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009204 lethal faciocardiomelic dysplasia 'lethal faciocardiomelic dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'lethal faciocardiomelic dysplasia' SubClassOf 'genetic disorder' 'lethal faciocardiomelic dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'lethal faciocardiomelic dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009203 focal facial dermal dysplasia type III 'focal facial dermal dysplasia type III' SubClassOf 'focal facial dermal dysplasia' 'focal facial dermal dysplasia type III' SubClassOf 'focal facial dermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009200 eyebrow duplication-syndactyly syndrome 'eyebrow duplication-syndactyly syndrome' SubClassOf 'syndromic disease' 'eyebrow duplication-syndactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0000879 cutaneous candidiasis 'cutaneous candidiasis' SubClassOf 'candidiasis' 'cutaneous candidiasis' SubClassOf 'candidiasis' http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis 'Farber lipogranulomatosis' SubClassOf 'ASAH1-related sphingolipidosis' 'Farber lipogranulomatosis' SubClassOf 'ASAH1-related sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0009216 glycogen storage disease due to GLUT2 deficiency 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009214 Fanconi anemia complementation group D2 'Fanconi anemia complementation group D2' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group D2' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0010207 wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome 'wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome' SubClassOf 'syndromic disease' 'wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009213 Fanconi anemia complementation group C 'Fanconi anemia complementation group C' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group C' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0009212 congenital factor X deficiency 'congenital factor X deficiency' SubClassOf 'factor X deficiency' 'congenital factor X deficiency' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' 'congenital factor X deficiency' SubClassOf 'factor X deficiency' 'congenital factor X deficiency' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/MONDO_0010209 xanthinuria type I 'xanthinuria type I' SubClassOf 'hereditary xanthinuria' 'xanthinuria type I' SubClassOf 'hereditary xanthinuria' http://purl.obolibrary.org/obo/MONDO_0009211 congenital factor VII deficiency 'congenital factor VII deficiency' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' 'congenital factor VII deficiency' SubClassOf 'factor VII deficiency' 'congenital factor VII deficiency' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' 'congenital factor VII deficiency' SubClassOf 'factor VII deficiency' http://purl.obolibrary.org/obo/MONDO_0010208 wrinkly skin syndrome 'wrinkly skin syndrome' SubClassOf 'autosomal recessive cutis laxa type 2A' 'wrinkly skin syndrome' SubClassOf 'autosomal recessive cutis laxa type 2A' http://purl.obolibrary.org/obo/MONDO_0010200 Wilson disease 'Wilson disease' SubClassOf 'disorder of copper metabolism' 'Wilson disease' SubClassOf 'inborn metal metabolism disorder' 'Wilson disease' SubClassOf 'disorder of copper metabolism' 'Wilson disease' SubClassOf 'inborn metal metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0010203 intellectual disability, Wolff type 'intellectual disability, Wolff type' SubClassOf 'syndromic intellectual disability' 'intellectual disability, Wolff type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability, Wolff type' SubClassOf 'syndromic intellectual disability' 'intellectual disability, Wolff type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0000892 colon medullary carcinoma 'colon medullary carcinoma' SubClassOf 'colorectal medullary carcinoma' 'colon medullary carcinoma' SubClassOf 'colon adenocarcinoma' 'colon medullary carcinoma' SubClassOf 'colorectal medullary carcinoma' 'colon medullary carcinoma' SubClassOf 'colon adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0000890 Zika virus congenital syndrome 'Zika virus congenital syndrome' SubClassOf 'vector-borne disease' 'Zika virus congenital syndrome' SubClassOf 'disease arises from feature' some 'Zika virus infectious disease' 'Zika virus congenital syndrome' SubClassOf 'viral disease' 'Zika virus congenital syndrome' SubClassOf 'vector-borne disease' 'Zika virus congenital syndrome' SubClassOf 'disease arises from feature' some 'Zika virus infectious disease' 'Zika virus congenital syndrome' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0009229 hyaline fibromatosis syndrome 'hyaline fibromatosis syndrome' SubClassOf 'primary osteolysis' 'hyaline fibromatosis syndrome' SubClassOf 'primary osteolysis' http://purl.obolibrary.org/obo/MONDO_0000894 mucinous bronchioloalveolar adenocarcinoma 'mucinous bronchioloalveolar adenocarcinoma' SubClassOf 'bronchoalveolar adenocarcinoma' 'mucinous bronchioloalveolar adenocarcinoma' SubClassOf 'bronchoalveolar adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0009228 gingival fibromatosis-facial dysmorphism syndrome 'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'syndromic disease' 'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'syndromic disease' 'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009227 myofibromatosis, infantile, 1 'myofibromatosis, infantile, 1' SubClassOf 'infantile myofibromatosis' 'myofibromatosis, infantile, 1' SubClassOf 'infantile myofibromatosis' http://purl.obolibrary.org/obo/MONDO_0010216 xeroderma pigmentosum group G 'xeroderma pigmentosum group G' SubClassOf 'COFS syndrome' 'xeroderma pigmentosum group G' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' 'xeroderma pigmentosum group G' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group G' SubClassOf 'COFS syndrome' 'xeroderma pigmentosum group G' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' 'xeroderma pigmentosum group G' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0009226 fibrochondrogenesis 1 'fibrochondrogenesis 1' SubClassOf 'fibrochondrogenesis' 'fibrochondrogenesis 1' SubClassOf 'fibrochondrogenesis' http://purl.obolibrary.org/obo/MONDO_0010215 xeroderma pigmentosum group F 'xeroderma pigmentosum group F' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group F' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' 'xeroderma pigmentosum group F' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group F' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' http://purl.obolibrary.org/obo/MONDO_0010217 de Sanctis-Cacchione syndrome 'de Sanctis-Cacchione syndrome' SubClassOf 'genetic disorder' 'de Sanctis-Cacchione syndrome' SubClassOf 'syndromic disease' 'de Sanctis-Cacchione syndrome' SubClassOf 'genetic disorder' 'de Sanctis-Cacchione syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009223 hypogonadotropic hypogonadism 23 with or without anosmia 'hypogonadotropic hypogonadism 23 with or without anosmia' SubClassOf 'hypogonadotropic hypogonadism' 'hypogonadotropic hypogonadism 23 with or without anosmia' SubClassOf 'Leydig cell hypoplasia' 'hypogonadotropic hypogonadism 23 with or without anosmia' SubClassOf 'hypogonadotropic hypogonadism' 'hypogonadotropic hypogonadism 23 with or without anosmia' SubClassOf 'Leydig cell hypoplasia' http://purl.obolibrary.org/obo/MONDO_0009222 Gollop-Wolfgang complex 'Gollop-Wolfgang complex' SubClassOf 'non-syndromic limb reduction defect' 'Gollop-Wolfgang complex' SubClassOf 'congenital limb malformation' 'Gollop-Wolfgang complex' SubClassOf 'non-syndromic limb reduction defect' 'Gollop-Wolfgang complex' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009221 femur-fibula-ulna complex 'femur-fibula-ulna complex' SubClassOf 'non-syndromic limb reduction defect' 'femur-fibula-ulna complex' SubClassOf 'congenital limb malformation' 'femur-fibula-ulna complex' SubClassOf 'dysostosis' 'femur-fibula-ulna complex' SubClassOf 'non-syndromic limb reduction defect' 'femur-fibula-ulna complex' SubClassOf 'congenital limb malformation' 'femur-fibula-ulna complex' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0009230 fibrosclerosis, multifocal 'fibrosclerosis, multifocal' SubClassOf 'IgG4-related retroperitoneal fibrosis' 'fibrosclerosis, multifocal' SubClassOf 'genetic disorder' 'fibrosclerosis, multifocal' SubClassOf 'genetic disorder' 'fibrosclerosis, multifocal' SubClassOf 'IgG4-related retroperitoneal fibrosis' http://purl.obolibrary.org/obo/MONDO_0010210 xeroderma pigmentosum group A 'xeroderma pigmentosum group A' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group A' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0010212 xeroderma pigmentosum group D 'xeroderma pigmentosum group D' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group D' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' 'xeroderma pigmentosum group D' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group D' SubClassOf 'xeroderma pigmentosum-Cockayne syndrome complex' http://purl.obolibrary.org/obo/MONDO_0010211 xeroderma pigmentosum group C 'xeroderma pigmentosum group C' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group C' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0010214 xeroderma pigmentosum variant type 'xeroderma pigmentosum variant type' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum variant type' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0010213 xeroderma pigmentosum group E 'xeroderma pigmentosum group E' SubClassOf 'xeroderma pigmentosum' 'xeroderma pigmentosum group E' SubClassOf 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0009239 hypogonadotropic hypogonadism 24 without anosmia 'hypogonadotropic hypogonadism 24 without anosmia' SubClassOf 'hypogonadotropic hypogonadism' 'hypogonadotropic hypogonadism 24 without anosmia' SubClassOf 'hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0009238 hereditary folate malabsorption 'hereditary folate malabsorption' SubClassOf 'malabsorption syndrome' 'hereditary folate malabsorption' SubClassOf 'disorder of folate metabolism and transport' 'hereditary folate malabsorption' SubClassOf 'malabsorption syndrome' 'hereditary folate malabsorption' SubClassOf 'disorder of folate metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0009236 Kandori fleck retina 'Kandori fleck retina' SubClassOf 'familial flecked retinopathy' 'Kandori fleck retina' SubClassOf 'familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0009235 familial benign flecked retina 'familial benign flecked retina' SubClassOf 'inherited retinal dystrophy' 'familial benign flecked retina' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009234 congenital high-molecular-weight kininogen deficiency 'congenital high-molecular-weight kininogen deficiency' SubClassOf 'coagulation protein disease' 'congenital high-molecular-weight kininogen deficiency' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome 'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009232 Fuhrmann syndrome 'Fuhrmann syndrome' SubClassOf 'non-syndromic limb reduction defect' 'Fuhrmann syndrome' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0009231 acromesomelic dysplasia 2B 'acromesomelic dysplasia 2B' SubClassOf 'autosomal recessive disease' 'acromesomelic dysplasia 2B' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 2B' SubClassOf 'autosomal recessive disease' 'acromesomelic dysplasia 2B' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009241 fountain syndrome 'fountain syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'fountain syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009240 formiminoglutamic aciduria 'formiminoglutamic aciduria' SubClassOf 'disorder of folate metabolism and transport' 'formiminoglutamic aciduria' SubClassOf 'disorder of folate metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0010221 CHIME syndrome 'CHIME syndrome' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'CHIME syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'CHIME syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'CHIME syndrome' SubClassOf 'disorder of visual system' 'CHIME syndrome' SubClassOf 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' 'CHIME syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'CHIME syndrome' SubClassOf 'disorder of visual system' 'CHIME syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010220 Young syndrome 'Young syndrome' SubClassOf 'respiratory system disease' 'Young syndrome' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010222 X-linked Opitz G/BBB syndrome 'X-linked Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' 'X-linked Opitz G/BBB syndrome' SubClassOf 'Opitz G/BBB syndrome' http://purl.obolibrary.org/obo/MONDO_0010225 Dent disease type 1 'Dent disease type 1' SubClassOf 'Dent disease' 'Dent disease type 1' SubClassOf 'Dent disease' http://purl.obolibrary.org/obo/MONDO_0010224 corpus callosum agenesis-abnormal genitalia syndrome 'corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf 'syndromic disease' 'corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0024879 metastatic carcinoma 'metastatic carcinoma' SubClassOf 'secondary carcinoma' 'metastatic carcinoma' SubClassOf 'metastatic malignant neoplasm' 'metastatic carcinoma' SubClassOf 'secondary carcinoma' 'metastatic carcinoma' SubClassOf 'metastatic malignant neoplasm' http://purl.obolibrary.org/obo/MONDO_0024878 secondary carcinoma 'secondary carcinoma' SubClassOf 'secondary malignant neoplasm' 'secondary carcinoma' SubClassOf 'secondary malignant neoplasm' http://purl.obolibrary.org/obo/MONDO_0009249 hereditary fructose intolerance 'hereditary fructose intolerance' SubClassOf 'disorder of galactose and fructose metabolism' 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism' 'hereditary fructose intolerance' SubClassOf 'disorder of galactose and fructose metabolism' 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0010237 X-linked intellectual disability-plagiocephaly syndrome 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'syndromic craniosynostosis' 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'syndromic craniosynostosis' 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009247 frontofacionasal dysplasia 'frontofacionasal dysplasia' SubClassOf 'frontonasal dysplasia' 'frontofacionasal dysplasia' SubClassOf 'syndromic disease' 'frontofacionasal dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'frontofacionasal dysplasia' SubClassOf 'frontonasal dysplasia' 'frontofacionasal dysplasia' SubClassOf 'syndromic disease' 'frontofacionasal dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010239 lissencephaly type 1 due to doublecortin gene mutation 'lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'classic lissencephaly' 'lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome 'brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'brittle cornea syndrome' SubClassOf 'corneal disease' 'brittle cornea syndrome' SubClassOf 'autosomal recessive disease' 'brittle cornea syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'brittle cornea syndrome' SubClassOf 'corneal disease' 'brittle cornea syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009252 essential fructosuria 'essential fructosuria' SubClassOf 'disorder of galactose and fructose metabolism' 'essential fructosuria' SubClassOf 'disorder of fructose metabolism' 'essential fructosuria' SubClassOf 'disorder of galactose and fructose metabolism' 'essential fructosuria' SubClassOf 'disorder of fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0009251 fructose-1,6-bisphosphatase deficiency 'fructose-1,6-bisphosphatase deficiency' SubClassOf 'disorder of gluconeogenesis' 'fructose-1,6-bisphosphatase deficiency' SubClassOf 'disorder of gluconeogenesis' http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, X-linked dominant 'heterotopia, periventricular, X-linked dominant' SubClassOf 'periventricular nodular heterotopia' 'heterotopia, periventricular, X-linked dominant' SubClassOf 'periventricular nodular heterotopia' http://purl.obolibrary.org/obo/MONDO_0010235 X-linked intellectual disability-psychosis-macroorchidism syndrome 'X-linked intellectual disability-psychosis-macroorchidism syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-psychosis-macroorchidism syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0024868 metastatic carcinoma in the adrenal medulla 'metastatic carcinoma in the adrenal medulla' SubClassOf 'metastatic carcinoma' 'metastatic carcinoma in the adrenal medulla' SubClassOf 'metastatic carcinoma' http://purl.obolibrary.org/obo/MONDO_0024892 soft tissue amyloid neoplasm 'soft tissue amyloid neoplasm' SubClassOf 'amyloidosis' 'soft tissue amyloid neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'soft tissue amyloid neoplasm' EquivalentTo 'Soft Tissue Neoplasm' and 'amyloidosis' 'soft tissue amyloid neoplasm' SubClassOf 'amyloidosis' 'soft tissue amyloid neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'soft tissue amyloid neoplasm' EquivalentTo 'Soft Tissue Neoplasm' and 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0009259 gamma-glutamylcysteine synthetase deficiency 'gamma-glutamylcysteine synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'gamma-glutamylcysteine synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0010248 X-linked spondyloepimetaphyseal dysplasia 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'X-linked spondyloepimetaphyseal dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia 'classic galactosemia' SubClassOf 'inherited primary ovarian failure' 'classic galactosemia' SubClassOf 'galactosemia' 'classic galactosemia' SubClassOf 'disorder of galactose and fructose metabolism' 'classic galactosemia' SubClassOf 'inherited primary ovarian failure' 'classic galactosemia' SubClassOf 'galactosemia' 'classic galactosemia' SubClassOf 'disorder of galactose and fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency 'galactose epimerase deficiency' SubClassOf 'galactosemia' 'galactose epimerase deficiency' SubClassOf 'galactosemia' http://purl.obolibrary.org/obo/MONDO_0009255 galactokinase deficiency 'galactokinase deficiency' SubClassOf 'galactosemia' 'galactokinase deficiency' SubClassOf 'disorder of galactose and fructose metabolism' 'galactokinase deficiency' SubClassOf 'galactosemia' 'galactokinase deficiency' SubClassOf 'disorder of galactose and fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0009254 fucosidosis 'fucosidosis' SubClassOf 'oligosaccharidosis' 'fucosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'fucosidosis' SubClassOf 'oligosaccharidosis' 'fucosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0024890 pineal parenchymal cell neoplasm 'pineal parenchymal cell neoplasm' SubClassOf 'pineal body neoplasm' 'pineal parenchymal cell neoplasm' SubClassOf 'neuroepithelial neoplasm' 'pineal parenchymal cell neoplasm' SubClassOf 'pineal body neoplasm' 'pineal parenchymal cell neoplasm' SubClassOf 'neuroepithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0009253 Fryns syndrome 'Fryns syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fryns syndrome' SubClassOf 'syndromic disease' 'Fryns syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fryns syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009263 GAPO syndrome 'GAPO syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'GAPO syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'GAPO syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'GAPO syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010241 congenital stationary night blindness 2A 'congenital stationary night blindness 2A' SubClassOf 'X-linked congenital stationary night blindness' 'congenital stationary night blindness 2A' SubClassOf 'CACNA1F-related retinopathy' 'congenital stationary night blindness 2A' SubClassOf 'X-linked congenital stationary night blindness' 'congenital stationary night blindness 2A' SubClassOf 'CACNA1F-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0009262 GM1 gangliosidosis type 3 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0009261 GM1 gangliosidosis type 2 'GM1 gangliosidosis type 2' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 2' SubClassOf 'GM1 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0010243 X-linked immunoneurologic disorder 'X-linked immunoneurologic disorder' SubClassOf 'inborn error of immunity' 'X-linked immunoneurologic disorder' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0009260 GM1 gangliosidosis type 1 'GM1 gangliosidosis type 1' SubClassOf 'lysosomal storage disease with skeletal involvement' 'GM1 gangliosidosis type 1' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 1' SubClassOf 'lysosomal storage disease with skeletal involvement' 'GM1 gangliosidosis type 1' SubClassOf 'GM1 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0010247 X-linked cerebral adrenoleukodystrophy 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'adrenoleukodystrophy' 'X-linked cerebral adrenoleukodystrophy' SubClassOf 'adrenoleukodystrophy' http://purl.obolibrary.org/obo/MONDO_0010246 developmental and epileptic encephalopathy, 9 'developmental and epileptic encephalopathy, 9' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 9' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' 'developmental and epileptic encephalopathy, 9' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 9' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0024884 metastatic carcinoma in the bone 'metastatic carcinoma in the bone' SubClassOf 'metastatic carcinoma' 'metastatic carcinoma in the bone' SubClassOf 'metastatic carcinoma' http://purl.obolibrary.org/obo/MONDO_0024886 serous adenofibroma 'serous adenofibroma' SubClassOf 'Adenofibroma' 'serous adenofibroma' SubClassOf 'Adenofibroma' http://purl.obolibrary.org/obo/MONDO_0024885 malignant ovarian serous tumor 'malignant ovarian serous tumor' SubClassOf 'malignant epithelial tumor of ovary' 'malignant ovarian serous tumor' SubClassOf 'ovarian serous tumor' 'malignant ovarian serous tumor' SubClassOf 'malignant epithelial tumor of ovary' 'malignant ovarian serous tumor' SubClassOf 'ovarian serous tumor' http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm 'mesonephric neoplasm' SubClassOf 'epithelial neoplasm' 'mesonephric neoplasm' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0009268 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome' SubClassOf 'Gaucher disease' 'Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome' SubClassOf 'Gaucher disease' http://purl.obolibrary.org/obo/MONDO_0009267 Gaucher disease type III 'Gaucher disease type III' SubClassOf 'Gaucher disease' 'Gaucher disease type III' SubClassOf 'Gaucher disease' http://purl.obolibrary.org/obo/MONDO_0009266 Gaucher disease type II 'Gaucher disease type II' SubClassOf 'Gaucher disease' 'Gaucher disease type II' SubClassOf 'Gaucher disease' http://purl.obolibrary.org/obo/MONDO_0009265 Gaucher disease type I 'Gaucher disease type I' SubClassOf 'Gaucher disease' 'Gaucher disease type I' SubClassOf 'cerebral lipidosis with dementia' 'Gaucher disease type I' SubClassOf 'secondary avascular necrosis' 'Gaucher disease type I' SubClassOf 'Gaucher disease' 'Gaucher disease type I' SubClassOf 'cerebral lipidosis with dementia' 'Gaucher disease type I' SubClassOf 'secondary avascular necrosis' http://purl.obolibrary.org/obo/MONDO_0024880 metastatic malignant neoplasm 'metastatic malignant neoplasm' SubClassOf 'secondary malignant neoplasm' 'metastatic malignant neoplasm' SubClassOf 'metastatic neoplasm' 'metastatic malignant neoplasm' SubClassOf 'secondary malignant neoplasm' 'metastatic malignant neoplasm' SubClassOf 'metastatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0009274 ghosal hematodiaphyseal dysplasia 'ghosal hematodiaphyseal dysplasia' SubClassOf 'skeletal dysplasia' 'ghosal hematodiaphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009273 hydatidiform mole, recurrent, 1 'hydatidiform mole, recurrent, 1' SubClassOf 'complete hydatidiform mole' 'hydatidiform mole, recurrent, 1' SubClassOf 'gestational trophoblastic neoplasm' 'hydatidiform mole, recurrent, 1' SubClassOf 'complete hydatidiform mole' 'hydatidiform mole, recurrent, 1' SubClassOf 'gestational trophoblastic neoplasm' http://purl.obolibrary.org/obo/MONDO_0009272 German syndrome 'German syndrome' SubClassOf 'primary lymphedema' 'German syndrome' SubClassOf 'syndromic disease' 'German syndrome' SubClassOf 'primary lymphedema' 'German syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009271 geroderma osteodysplastica 'geroderma osteodysplastica' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'geroderma osteodysplastica' SubClassOf 'inherited cutis laxa' 'geroderma osteodysplastica' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'geroderma osteodysplastica' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0009270 genito-palato-cardiac syndrome 'genito-palato-cardiac syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'genito-palato-cardiac syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010256 intellectual disability, X-linked 21 'intellectual disability, X-linked 21' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 21' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'type 1 diabetes mellitus') 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf 'predisposes towards' some 'type 1 diabetes mellitus' 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'type 1 diabetes mellitus' 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'type 1 diabetes mellitus') http://purl.obolibrary.org/obo/MONDO_0010258 MEHMO syndrome 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0024889 benign mesonephroma 'benign mesonephroma' SubClassOf 'mesonephric neoplasm' 'benign mesonephroma' SubClassOf 'mesonephric neoplasm' http://purl.obolibrary.org/obo/MONDO_0034204 syndromic congenital sodium diarrhea 'syndromic congenital sodium diarrhea' SubClassOf 'congenital sodium diarrhea' 'syndromic congenital sodium diarrhea' SubClassOf 'congenital sodium diarrhea' http://purl.obolibrary.org/obo/MONDO_0009279 triple-A syndrome 'triple-A syndrome' SubClassOf 'autosomal recessive disease' 'triple-A syndrome' SubClassOf 'chronic primary adrenal insufficiency' 'triple-A syndrome' SubClassOf 'syndromic disease' 'triple-A syndrome' SubClassOf 'autosomal recessive disease' 'triple-A syndrome' SubClassOf 'chronic primary adrenal insufficiency' 'triple-A syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009276 Bernard-Soulier syndrome 'Bernard-Soulier syndrome' SubClassOf 'syndromic disease' 'Bernard-Soulier syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'Bernard-Soulier syndrome' SubClassOf 'syndromic disease' 'Bernard-Soulier syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0009275 neonatal hemochromatosis 'neonatal hemochromatosis' SubClassOf 'hereditary hemochromatosis' 'neonatal hemochromatosis' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0009285 gamma-glutamyl transpeptidase deficiency 'gamma-glutamyl transpeptidase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'gamma-glutamyl transpeptidase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'syndromic disease' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009284 glutathione synthetase deficiency without 5-oxoprolinuria 'glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' 'glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' http://purl.obolibrary.org/obo/MONDO_0009283 glutaric acidemia type 3 'glutaric acidemia type 3' SubClassOf 'inborn organic aciduria' 'glutaric acidemia type 3' SubClassOf 'glutaric aciduria' 'glutaric acidemia type 3' SubClassOf 'inborn organic aciduria' 'glutaric acidemia type 3' SubClassOf 'glutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0010265 Simpson-Golabi-Behmel syndrome type 2 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'Simpson-Golabi-Behmel syndrome' 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'Simpson-Golabi-Behmel syndrome' http://purl.obolibrary.org/obo/MONDO_0009282 multiple acyl-CoA dehydrogenase deficiency 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria' 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria' 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'acyl-CoA dehydrogenase deficiency' 'multiple acyl-CoA dehydrogenase deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0010264 X-linked adrenal hypoplasia congenita 'X-linked adrenal hypoplasia congenita' SubClassOf 'congenital hypogonadotropic hypogonadism' 'X-linked adrenal hypoplasia congenita' SubClassOf 'chronic primary adrenal insufficiency' 'X-linked adrenal hypoplasia congenita' SubClassOf 'alternating hemiplegia of childhood' 'X-linked adrenal hypoplasia congenita' SubClassOf 'congenital hypogonadotropic hypogonadism' 'X-linked adrenal hypoplasia congenita' SubClassOf 'chronic primary adrenal insufficiency' 'X-linked adrenal hypoplasia congenita' SubClassOf 'alternating hemiplegia of childhood' http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'inborn organic aciduria' 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria' 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'inborn organic aciduria' 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'glutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0010266 intellectual disability, X-linked 58 'intellectual disability, X-linked 58' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 58' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010269 Coats disease 'Coats disease' SubClassOf 'congenital vitreoretinal dysplasia' 'Coats disease' SubClassOf 'retinal telangiectasia' 'Coats disease' SubClassOf 'congenital vitreoretinal dysplasia' 'Coats disease' SubClassOf 'retinal telangiectasia' http://purl.obolibrary.org/obo/MONDO_0010268 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'lissencephaly spectrum disorders' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'syndromic disease' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'lissencephaly spectrum disorders' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 'microphthalmia, syndromic 2' SubClassOf 'syndromic microphthalmia' 'microphthalmia, syndromic 2' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0009288 glycogen storage disease Ib 'glycogen storage disease Ib' SubClassOf 'constitutional neutropenia' 'glycogen storage disease Ib' SubClassOf 'constitutional neutropenia' http://purl.obolibrary.org/obo/MONDO_0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA 'glycogen storage disease due to glucose-6-phosphatase deficiency type IA' SubClassOf 'glycogen storage disease I' 'glycogen storage disease due to glucose-6-phosphatase deficiency type IA' SubClassOf 'glycogen storage disease I' http://purl.obolibrary.org/obo/MONDO_0009295 glycogen storage disease VII 'glycogen storage disease VII' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease VII' SubClassOf 'disorder of glycolysis' 'glycogen storage disease VII' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease VII' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0009294 glycogen storage disease VI 'glycogen storage disease VI' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease VI' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V 'glycogen storage disease V' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease V' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0010275 spondyloepimetaphyseal dysplasia, Bieganski type 'spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009292 glycogen storage disease due to glycogen branching enzyme deficiency 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0010278 Christianson syndrome 'Christianson syndrome' SubClassOf 'syndromic disease' 'Christianson syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III 'glycogen storage disease III' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease III' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0010277 syndromic X-linked intellectual disability Shashi type 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II 'glycogen storage disease II' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease II' SubClassOf 'lysosomal glycogen storage disease' 'glycogen storage disease II' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease II' SubClassOf 'lysosomal glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010279 terminal osseous dysplasia-pigmentary defects syndrome 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'filamin-related bone disorder' 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'acromelic dysplasia' 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'filamin-related bone disorder' 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0010270 syndromic X-linked intellectual disability 7 'syndromic X-linked intellectual disability 7' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 7' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability 7' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 7' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009299 46 XX gonadal dysgenesis '46 XX gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '46 XX gonadal dysgenesis' SubClassOf 'inherited primary ovarian failure' '46 XX gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '46 XX gonadal dysgenesis' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0009297 familial renal glucosuria 'familial renal glucosuria' SubClassOf 'renal tubular transport disease' 'familial renal glucosuria' SubClassOf 'glucose transport disorder' 'familial renal glucosuria' SubClassOf 'renal tubular transport disease' 'familial renal glucosuria' SubClassOf 'glucose transport disorder' http://purl.obolibrary.org/obo/MONDO_0010285 syndromic X-linked intellectual disability Abidi type 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010284 Armfield syndrome 'Armfield syndrome' SubClassOf 'syndromic disease' 'Armfield syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010287 hereditary spastic paraplegia 16 'hereditary spastic paraplegia 16' SubClassOf 'hereditary spastic paraplegia' 'hereditary spastic paraplegia 16' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010286 syndromic X-linked intellectual disability Siderius type 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010288 adrenomyodystrophy 'adrenomyodystrophy' SubClassOf 'adrenal gland disease' 'adrenomyodystrophy' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0010283 syndromic X-linked intellectual disability Lubs type 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'partial duplication of the long arm of chromosome X' 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'partial duplication of the long arm of chromosome X' 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010282 Mycobacterium tuberculosis, susceptibility to, X-linked 'Mycobacterium tuberculosis, susceptibility to, X-linked' SubClassOf 'Mycobacterium tuberculosis, susceptibility' 'Mycobacterium tuberculosis, susceptibility to, X-linked' SubClassOf 'Mycobacterium tuberculosis, susceptibility' http://purl.obolibrary.org/obo/MONDO_0010295 anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'osteopetrosis' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'IKBKG-related immunodeficiency with or without ectodermal dysplasia' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'osteopetrosis' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome' SubClassOf 'IKBKG-related immunodeficiency with or without ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome 'Lesch-Nyhan syndrome' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' 'Lesch-Nyhan syndrome' SubClassOf 'syndromic disease' 'Lesch-Nyhan syndrome' SubClassOf 'syndromic disease' 'Lesch-Nyhan syndrome' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' http://purl.obolibrary.org/obo/MONDO_0010297 FG syndrome 2 'FG syndrome 2' SubClassOf 'fg syndrome' 'FG syndrome 2' SubClassOf 'fg syndrome' http://purl.obolibrary.org/obo/MONDO_0010299 hypoxanthine guanine phosphoribosyltransferase partial deficiency 'hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' 'hypoxanthine guanine phosphoribosyltransferase partial deficiency' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' http://purl.obolibrary.org/obo/MONDO_0010292 Uruguay Faciocardiomusculoskeletal syndrome 'Uruguay Faciocardiomusculoskeletal syndrome' SubClassOf 'FHL1-related myopathy' 'Uruguay Faciocardiomusculoskeletal syndrome' SubClassOf 'FHL1-related myopathy' http://purl.obolibrary.org/obo/MONDO_0010294 X-linked severe congenital neutropenia 'X-linked severe congenital neutropenia' SubClassOf 'X-linked disease' 'X-linked severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' 'X-linked severe congenital neutropenia' SubClassOf 'X-linked disease' 'X-linked severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0010293 ectodermal dysplasia and immune deficiency 'ectodermal dysplasia and immune deficiency' SubClassOf 'inborn error of immunity' 'ectodermal dysplasia and immune deficiency' SubClassOf 'hypohidrotic ectodermal dysplasia' 'ectodermal dysplasia and immune deficiency' SubClassOf 'inborn error of immunity' 'ectodermal dysplasia and immune deficiency' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome 'nephrogenic diabetes insipidus-intracranial calcification syndrome' SubClassOf 'inherited renal tubular disease' 'nephrogenic diabetes insipidus-intracranial calcification syndrome' SubClassOf 'syndromic disease' 'nephrogenic diabetes insipidus-intracranial calcification syndrome' SubClassOf 'inherited renal tubular disease' 'nephrogenic diabetes insipidus-intracranial calcification syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0034054 severe combined immunodeficiency due to CD70 deficiency 'severe combined immunodeficiency due to CD70 deficiency' SubClassOf 'lymphoproliferative syndrome' 'severe combined immunodeficiency due to CD70 deficiency' SubClassOf 'lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0010089 isolated sulfite oxidase deficiency 'isolated sulfite oxidase deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' 'isolated sulfite oxidase deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' http://purl.obolibrary.org/obo/MONDO_0010088 mucosulfatidosis 'mucosulfatidosis' SubClassOf 'integumentary system disease' 'mucosulfatidosis' SubClassOf 'sphingolipidosis' 'mucosulfatidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucosulfatidosis' SubClassOf 'developmental anomaly of metabolic origin' 'mucosulfatidosis' SubClassOf 'integumentary system disease' 'mucosulfatidosis' SubClassOf 'sphingolipidosis' 'mucosulfatidosis' SubClassOf 'developmental anomaly of metabolic origin' 'mucosulfatidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0010080 familial infantile bilateral striatal necrosis 'familial infantile bilateral striatal necrosis' SubClassOf 'striatonigral degeneration' 'familial infantile bilateral striatal necrosis' SubClassOf 'syndromic disease' 'familial infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' 'familial infantile bilateral striatal necrosis' SubClassOf 'striatonigral degeneration' 'familial infantile bilateral striatal necrosis' SubClassOf 'syndromic disease' 'familial infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' http://purl.obolibrary.org/obo/MONDO_0010083 succinic semialdehyde dehydrogenase deficiency 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0010082 subaortic stenosis-short stature syndrome 'subaortic stenosis-short stature syndrome' SubClassOf 'syndromic disease' 'subaortic stenosis-short stature syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010098 taurodontism 'taurodontism' SubClassOf 'tooth disease' 'taurodontism' SubClassOf 'genetic disorder' 'taurodontism' SubClassOf 'tooth disease' 'taurodontism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010099 Tay-Sachs disease AB variant 'Tay-Sachs disease AB variant' SubClassOf 'GM2 gangliosidosis' 'Tay-Sachs disease AB variant' SubClassOf 'GM2 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0010090 Summitt syndrome 'Summitt syndrome' SubClassOf 'syndromic craniosynostosis' 'Summitt syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0010092 Filippi syndrome 'Filippi syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Filippi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Filippi syndrome' SubClassOf 'polydactyly-syndactyly-triphalangism' 'Filippi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010091 Cold-induced sweating syndrome 1 'Cold-induced sweating syndrome 1' SubClassOf 'cold-induced sweating syndrome' 'Cold-induced sweating syndrome 1' SubClassOf 'cold-induced sweating syndrome' http://purl.obolibrary.org/obo/MONDO_0010094 spondylocarpotarsal synostosis syndrome 'spondylocarpotarsal synostosis syndrome' SubClassOf 'spondylodysplastic dysplasia' 'spondylocarpotarsal synostosis syndrome' SubClassOf 'bone development disease' 'spondylocarpotarsal synostosis syndrome' SubClassOf 'filamin-related bone disorder' 'spondylocarpotarsal synostosis syndrome' SubClassOf 'spondylodysplastic dysplasia' 'spondylocarpotarsal synostosis syndrome' SubClassOf 'bone development disease' 'spondylocarpotarsal synostosis syndrome' SubClassOf 'filamin-related bone disorder' http://purl.obolibrary.org/obo/MONDO_0010095 ataxia-tapetoretinal degeneration syndrome 'ataxia-tapetoretinal degeneration syndrome' SubClassOf 'hereditary ataxia' 'ataxia-tapetoretinal degeneration syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 'optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf 'hereditary peripheral neuropathy' 'optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0034099 SYNGAP1-related developmental and epileptic encephalopathy 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf 'infantile epilepsy syndrome' 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf 'infantile epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf 'sex chromosome disorder of sex development' 'Klinefelter's syndrome' SubClassOf 'trisomy' 'Klinefelter's syndrome' SubClassOf 'sex chromosome disorder of sex development' 'Klinefelter's syndrome' SubClassOf 'trisomy' http://www.ebi.ac.uk/efo/EFO_1001004 kidney papillary necrosis 'kidney papillary necrosis' SubClassOf 'kidney disease' 'kidney papillary necrosis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001003 kidney cortex necrosis 'kidney cortex necrosis' SubClassOf 'kidney disease' 'kidney cortex necrosis' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001000 juxtacortical osteosarcoma 'juxtacortical osteosarcoma' SubClassOf 'peripheral osteosarcoma' 'juxtacortical osteosarcoma' SubClassOf 'peripheral osteosarcoma' http://www.ebi.ac.uk/efo/EFO_1001009 kwashiorkor 'kwashiorkor' SubClassOf 'protein energy malnutrition' 'kwashiorkor' SubClassOf 'protein energy malnutrition' http://www.ebi.ac.uk/efo/EFO_1001008 kuru 'kuru' SubClassOf 'human prion disease' 'kuru' SubClassOf 'prion disease' 'kuru' SubClassOf 'human prion disease' 'kuru' SubClassOf 'prion disease' http://www.ebi.ac.uk/efo/EFO_1001007 krebs 2 carcinoma 'krebs 2 carcinoma' SubClassOf 'carcinoma' 'krebs 2 carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1001016 leukostasis 'leukostasis' SubClassOf 'leukocyte disorder' 'leukostasis' SubClassOf 'leukocyte disorder' http://www.ebi.ac.uk/efo/EFO_1001015 leukoplakia of penis 'leukoplakia of penis' SubClassOf 'penile disorder' 'leukoplakia of penis' SubClassOf 'penile disorder' http://www.ebi.ac.uk/efo/EFO_1001014 leukemoid reaction 'leukemoid reaction' SubClassOf 'plasma cell neoplasm' 'leukemoid reaction' SubClassOf 'plasma cell neoplasm' http://www.ebi.ac.uk/efo/EFO_1001013 lethal midline granuloma 'lethal midline granuloma' SubClassOf 'nasal disorder' 'lethal midline granuloma' SubClassOf 'head and neck neoplasia' 'lethal midline granuloma' SubClassOf 'nasal disorder' 'lethal midline granuloma' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_1001011 lateral medullary syndrome 'lateral medullary syndrome' SubClassOf 'syndromic disease' 'lateral medullary syndrome' SubClassOf 'brain stem infarction' 'lateral medullary syndrome' SubClassOf 'syndromic disease' 'lateral medullary syndrome' SubClassOf 'brain stem infarction' http://www.ebi.ac.uk/efo/EFO_1001010 Landau-Kleffner syndrome 'Landau-Kleffner syndrome' SubClassOf 'childhood electroclinical syndrome' 'Landau-Kleffner syndrome' SubClassOf 'syndromic disease' 'Landau-Kleffner syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'Landau-Kleffner syndrome' SubClassOf 'childhood electroclinical syndrome' 'Landau-Kleffner syndrome' SubClassOf 'syndromic disease' 'Landau-Kleffner syndrome' SubClassOf 'childhood-onset epilepsy syndrome' http://www.ebi.ac.uk/efo/EFO_1001019 lip cancer 'lip cancer' SubClassOf 'oral cavity cancer' 'lip cancer' SubClassOf 'lip neoplasm' 'lip cancer' SubClassOf 'oral cavity cancer' 'lip cancer' SubClassOf 'lip neoplasm' http://www.ebi.ac.uk/efo/EFO_1001018 lingual goiter 'lingual goiter' SubClassOf 'goiter' 'lingual goiter' SubClassOf 'goiter' http://www.ebi.ac.uk/efo/EFO_1001020 lipoid nephrosis 'lipoid nephrosis' SubClassOf 'glomerulonephritis' 'lipoid nephrosis' SubClassOf 'glomerulonephritis' http://www.ebi.ac.uk/efo/EFO_1001028 macular holes 'macular holes' SubClassOf 'retinopathy' 'macular holes' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1001027 lymphangiomyoma 'lymphangiomyoma' SubClassOf 'PEComa' 'lymphangiomyoma' SubClassOf 'PEComa' http://www.ebi.ac.uk/efo/EFO_1001026 lymphangioendothelioma 'lymphangioendothelioma' SubClassOf 'lymphangioma' 'lymphangioendothelioma' SubClassOf 'lymphangioma' http://www.ebi.ac.uk/efo/EFO_1001025 lymphangiectasis 'lymphangiectasis' SubClassOf 'lymphatic system disease' 'lymphangiectasis' SubClassOf 'vascular ectasia' 'lymphangiectasis' SubClassOf 'lymphatic system disease' 'lymphangiectasis' SubClassOf 'vascular ectasia' http://www.ebi.ac.uk/efo/EFO_1001024 Lutembacher's syndrome 'Lutembacher's syndrome' SubClassOf 'atrial heart septal defect' 'Lutembacher's syndrome' SubClassOf 'atrial heart septal defect' http://www.ebi.ac.uk/efo/EFO_1001023 lupus vulgaris 'lupus vulgaris' SubClassOf 'extrapulmonary tuberculosis' 'lupus vulgaris' SubClassOf 'extrapulmonary tuberculosis' http://www.ebi.ac.uk/efo/EFO_1001022 low tension glaucoma 'low tension glaucoma' SubClassOf 'optic nerve disorder' 'low tension glaucoma' SubClassOf 'open-angle glaucoma' 'low tension glaucoma' SubClassOf 'optic nerve disorder' 'low tension glaucoma' SubClassOf 'open-angle glaucoma' http://www.ebi.ac.uk/efo/EFO_1001021 Listeria meningitis 'Listeria meningitis' SubClassOf 'bacterial meningitis' 'Listeria meningitis' SubClassOf 'listeriosis' 'Listeria meningitis' SubClassOf 'bacterial meningitis' 'Listeria meningitis' SubClassOf 'listeriosis' http://www.ebi.ac.uk/efo/EFO_1001029 magnesium deficiency 'magnesium deficiency' SubClassOf 'nutritional deficiency disease' 'magnesium deficiency' SubClassOf 'nutritional deficiency disease' http://purl.obolibrary.org/obo/MONDO_0000701 ischemic colitis 'ischemic colitis' SubClassOf 'colitis' 'ischemic colitis' SubClassOf 'vascular disease' 'ischemic colitis' SubClassOf 'colitis' 'ischemic colitis' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0000700 familial hemiplegic migraine 'familial hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' 'familial hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0000715 lymph node adenoid cystic carcinoma 'lymph node adenoid cystic carcinoma' SubClassOf 'lymph node cancer' 'lymph node adenoid cystic carcinoma' SubClassOf 'lymph node cancer' http://purl.obolibrary.org/obo/MONDO_0000721 xanthinuria 'xanthinuria' SubClassOf 'metabolic disease' 'xanthinuria' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000723 stutter disorder 'stutter disorder' SubClassOf 'speech disorder' 'stutter disorder' SubClassOf 'language disorder' 'stutter disorder' SubClassOf 'speech disorder' 'stutter disorder' SubClassOf 'language disorder' http://purl.obolibrary.org/obo/MONDO_0000722 non-syndromic synpolydactyly 'non-syndromic synpolydactyly' SubClassOf 'non-syndromic syndactyly' 'non-syndromic synpolydactyly' SubClassOf 'non-syndromic syndactyly' http://purl.obolibrary.org/obo/MONDO_0000728 ptosis 'ptosis' SubClassOf 'eye disease' 'ptosis' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0000727 scapuloperoneal myopathy 'scapuloperoneal myopathy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'scapuloperoneal myopathy' SubClassOf 'Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0000726 idiopathic scoliosis 'idiopathic scoliosis' SubClassOf 'scoliosis' 'idiopathic scoliosis' SubClassOf 'scoliosis' http://purl.obolibrary.org/obo/MONDO_0000732 combined oxidative phosphorylation deficiency 'combined oxidative phosphorylation deficiency' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'combined oxidative phosphorylation deficiency' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0000736 dyschromatosis universalis hereditaria 'dyschromatosis universalis hereditaria' SubClassOf 'hyperpigmentation of the skin' 'dyschromatosis universalis hereditaria' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0000734 Ohdo syndrome and variants 'Ohdo syndrome and variants' SubClassOf 'blepharophimosis - intellectual disability syndrome' 'Ohdo syndrome and variants' SubClassOf 'blepharophimosis - intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0000733 cornea plana 'cornea plana' SubClassOf 'corneal disease' 'cornea plana' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0024715 benign synovial neoplasm 'benign synovial neoplasm' SubClassOf 'synovium neoplasm' 'benign synovial neoplasm' SubClassOf 'synovium neoplasm' http://purl.obolibrary.org/obo/MONDO_0000761 syndrome caused by partial chromosomal deletion 'syndrome caused by partial chromosomal deletion' SubClassOf 'chromosomal disorder' 'syndrome caused by partial chromosomal deletion' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0000764 epithelial-stromal TGFBI dystrophy 'epithelial-stromal TGFBI dystrophy' SubClassOf 'corneal dystrophy' 'epithelial-stromal TGFBI dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0000763 epithelial and subepithelial corneal dystrophy 'epithelial and subepithelial corneal dystrophy' SubClassOf 'corneal dystrophy' 'epithelial and subepithelial corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0000762 syndrome caused by partial chromosomal duplication 'syndrome caused by partial chromosomal duplication' SubClassOf 'chromosomal disorder' 'syndrome caused by partial chromosomal duplication' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0000766 corneal endothelial dystrophy 'corneal endothelial dystrophy' SubClassOf 'corneal dystrophy' 'corneal endothelial dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0000771 allergic respiratory disease 'allergic respiratory disease' SubClassOf 'allergic disease' 'allergic respiratory disease' SubClassOf 'allergic disease' http://purl.obolibrary.org/obo/MONDO_0009109 lysinuric protein intolerance 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid transport' 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0009108 hyperdibasic aminoaciduria type 1 'hyperdibasic aminoaciduria type 1' SubClassOf 'inborn disorder of amino acid transport' 'hyperdibasic aminoaciduria type 1' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0009107 diastrophic dysplasia 'diastrophic dysplasia' SubClassOf 'mineral metabolism disease' 'diastrophic dysplasia' SubClassOf 'osteochondrodysplasia' 'diastrophic dysplasia' SubClassOf 'mineral metabolism disease' 'diastrophic dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0009106 diastematomyelia 'diastematomyelia' SubClassOf 'congenital nervous system disorder' 'diastematomyelia' SubClassOf 'neural tube defect' 'diastematomyelia' SubClassOf 'congenital nervous system disorder' 'diastematomyelia' SubClassOf 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0009105 trichohepatoenteric syndrome 'trichohepatoenteric syndrome' SubClassOf 'intestinal disease' 'trichohepatoenteric syndrome' SubClassOf 'inborn error of immunity' 'trichohepatoenteric syndrome' SubClassOf 'type 1 interferonopathy of childhood' 'trichohepatoenteric syndrome' SubClassOf 'intestinal disease' 'trichohepatoenteric syndrome' SubClassOf 'inborn error of immunity' 'trichohepatoenteric syndrome' SubClassOf 'type 1 interferonopathy of childhood' http://purl.obolibrary.org/obo/MONDO_0009104 Donnai-Barrow syndrome 'Donnai-Barrow syndrome' SubClassOf 'autosomal recessive disease' 'Donnai-Barrow syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Donnai-Barrow syndrome' SubClassOf 'autosomal recessive disease' 'Donnai-Barrow syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0000777 gastrointestinal allergy 'gastrointestinal allergy' SubClassOf 'allergic disease' 'gastrointestinal allergy' SubClassOf 'allergic disease' http://purl.obolibrary.org/obo/MONDO_0009115 congenital lactase deficiency 'congenital lactase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'congenital lactase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0009114 congenital sucrase-isomaltase deficiency 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0009113 hemolytic anemia due to diphosphoglycerate mutase deficiency 'hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'inborn errors of metabolism' 'hemolytic anemia due to diphosphoglycerate mutase deficiency' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0009112 rhizomelic chondrodysplasia punctata type 2 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'glyceronephosphate O-acyltransferase deficiency' 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'glyceronephosphate O-acyltransferase deficiency' http://purl.obolibrary.org/obo/MONDO_0009111 dihydropyrimidinuria 'dihydropyrimidinuria' SubClassOf 'inborn disorder of pyrimidine metabolism' 'dihydropyrimidinuria' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009110 dicarboxylic aminoaciduria 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid transport' 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0009120 diverticulosis of bowel, hernia, and retinal detachment 'diverticulosis of bowel, hernia, and retinal detachment' SubClassOf 'syndromic disease' 'diverticulosis of bowel, hernia, and retinal detachment' SubClassOf 'digestive system disease' 'diverticulosis of bowel, hernia, and retinal detachment' SubClassOf 'syndromic disease' 'diverticulosis of bowel, hernia, and retinal detachment' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0010100 Tay-Sachs disease 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' 'Tay-Sachs disease' SubClassOf 'cerebral lipidosis with dementia' 'Tay-Sachs disease' SubClassOf 'hereditary peripheral neuropathy' 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' 'Tay-Sachs disease' SubClassOf 'cerebral lipidosis with dementia' 'Tay-Sachs disease' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0010102 taurodontia-absent teeth-sparse hair syndrome 'taurodontia-absent teeth-sparse hair syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'taurodontia-absent teeth-sparse hair syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010101 Teebi-Shaltout syndrome 'Teebi-Shaltout syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Teebi-Shaltout syndrome' SubClassOf 'skeletal system disease' 'Teebi-Shaltout syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Teebi-Shaltout syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome' SubClassOf 'disorder of development or morphogenesis' 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm 'cardiovascular neoplasm' SubClassOf 'cardiovascular disease' 'cardiovascular neoplasm' SubClassOf 'cardiovascular disease' http://purl.obolibrary.org/obo/MONDO_0024744 childhood choroid plexus neoplasm 'childhood choroid plexus neoplasm' SubClassOf 'choroid plexus neoplasm' 'childhood choroid plexus neoplasm' SubClassOf 'choroid plexus neoplasm' http://purl.obolibrary.org/obo/MONDO_0009128 dwarfism, intellectual disability, and eye abnormality 'dwarfism, intellectual disability, and eye abnormality' SubClassOf 'genetic disorder' 'dwarfism, intellectual disability, and eye abnormality' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010116 thoracomelic dysplasia 'thoracomelic dysplasia' SubClassOf 'short rib dysplasia' 'thoracomelic dysplasia' SubClassOf 'thoracic malformation' 'thoracomelic dysplasia' SubClassOf 'short rib dysplasia' 'thoracomelic dysplasia' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0009126 duodenal atresia 'duodenal atresia' SubClassOf 'intestinal atresia' 'duodenal atresia' SubClassOf 'disorder of development or morphogenesis' 'duodenal atresia' SubClassOf 'intestinal atresia' 'duodenal atresia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009124 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Dubowitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Dubowitz syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Dubowitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009123 orthostatic hypotension 1 'orthostatic hypotension 1' SubClassOf 'disorder of catecholamine synthesis' 'orthostatic hypotension 1' SubClassOf 'disorder of catecholamine synthesis' http://purl.obolibrary.org/obo/MONDO_0009121 von Voss-Cherstvoy syndrome 'von Voss-Cherstvoy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'von Voss-Cherstvoy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009131 Riley-Day syndrome 'Riley-Day syndrome' SubClassOf 'neurocristopathy' 'Riley-Day syndrome' SubClassOf 'neurocristopathy' http://purl.obolibrary.org/obo/MONDO_0009130 Dyggve-Melchior-Clausen disease 'Dyggve-Melchior-Clausen disease' SubClassOf 'syndromic disease' 'Dyggve-Melchior-Clausen disease' SubClassOf 'spondyloepiphyseal dysplasia' 'Dyggve-Melchior-Clausen disease' SubClassOf 'syndromic disease' 'Dyggve-Melchior-Clausen disease' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010111 odontotrichomelic syndrome 'odontotrichomelic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'odontotrichomelic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010110 tetraamelia-multiple malformations syndrome 'tetraamelia-multiple malformations syndrome' SubClassOf 'genetic disorder' 'tetraamelia-multiple malformations syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'tetraamelia-multiple malformations syndrome' SubClassOf 'genetic disorder' 'tetraamelia-multiple malformations syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type 'intellectual developmental disorder, X-linked, syndromic, Pilorge type' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual developmental disorder, X-linked, syndromic, Pilorge type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0024771 myopathy, distal, 7, adult-onset, X-linked 'myopathy, distal, 7, adult-onset, X-linked' SubClassOf 'distal myopathy' 'myopathy, distal, 7, adult-onset, X-linked' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0024777 immunodeficiency 98 with autoinflammation, X-linked 'immunodeficiency 98 with autoinflammation, X-linked' SubClassOf 'immunodeficiency disease' 'immunodeficiency 98 with autoinflammation, X-linked' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0009139 dyssegmental dysplasia, Rolland-Desbuquois type 'dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'spondyloepiphyseal dysplasia' 'dyssegmental dysplasia, Rolland-Desbuquois type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010128 thyrocerebrorenal syndrome 'thyrocerebrorenal syndrome' SubClassOf 'syndromic disease' 'thyrocerebrorenal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009138 dysosteosclerosis 'dysosteosclerosis' SubClassOf 'osteopetrosis' 'dysosteosclerosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0010127 thymoma, familial 'thymoma, familial' SubClassOf 'Thymoma' 'thymoma, familial' SubClassOf 'Thymoma' http://purl.obolibrary.org/obo/MONDO_0010129 thymic-renal-anal-lung dysplasia 'thymic-renal-anal-lung dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'thymic-renal-anal-lung dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009134 congenital dyserythropoietic anemia type 2 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 2' SubClassOf 'disorder of multiple glycosylation' 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 2' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/MONDO_0009133 cerebellar ataxia, intellectual disability, and dysequilibrium 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'autosomal recessive congenital cerebellar ataxia' 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'syndromic disease' 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'autosomal recessive congenital cerebellar ataxia' 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 'autoinflammatory syndrome, familial, X-linked, Behcet-like 2' SubClassOf 'autoinflammatory syndrome, familial, Behcet-like' 'autoinflammatory syndrome, familial, X-linked, Behcet-like 2' SubClassOf 'autoinflammatory syndrome, familial, Behcet-like' http://purl.obolibrary.org/obo/MONDO_0010120 thrombocytopenia 3 'thrombocytopenia 3' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia 3' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0009141 torsion dystonia 2 'torsion dystonia 2' SubClassOf 'focal, segmental or multifocal dystonia' 'torsion dystonia 2' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0009140 Silverman-Handmaker type dyssegmental dysplasia 'Silverman-Handmaker type dyssegmental dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'Silverman-Handmaker type dyssegmental dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'inherited blood coagulation disorder' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' 'congenital thrombotic thrombocytopenic purpura' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0010121 thrombocytopenia-absent radius syndrome 'thrombocytopenia-absent radius syndrome' SubClassOf 'non-syndromic limb reduction defect' 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic disease' 'thrombocytopenia-absent radius syndrome' SubClassOf 'non-syndromic limb reduction defect' 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010125 upper limb defect-eye and ear abnormalities syndrome 'upper limb defect-eye and ear abnormalities syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'upper limb defect-eye and ear abnormalities syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010139 isolated thyroid-stimulating hormone deficiency 'isolated thyroid-stimulating hormone deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' 'isolated thyroid-stimulating hormone deficiency' SubClassOf 'central congenital hypothyroidism' 'isolated thyroid-stimulating hormone deficiency' SubClassOf 'hypothyroidism, congenital, nongoitrous' 'isolated thyroid-stimulating hormone deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' 'isolated thyroid-stimulating hormone deficiency' SubClassOf 'central congenital hypothyroidism' 'isolated thyroid-stimulating hormone deficiency' SubClassOf 'hypothyroidism, congenital, nongoitrous' http://purl.obolibrary.org/obo/MONDO_0009149 ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome 'ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009148 Rosselli-Gulienetti syndrome 'Rosselli-Gulienetti syndrome' SubClassOf 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' 'Rosselli-Gulienetti syndrome' SubClassOf 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' http://purl.obolibrary.org/obo/MONDO_0009146 ectodermal dysplasia-sensorineural deafness syndrome 'ectodermal dysplasia-sensorineural deafness syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia-sensorineural deafness syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009145 SchC6pf-Schulz-Passarge syndrome 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'SchC6pf-Schulz-Passarge syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0010130 dihydropyrimidine dehydrogenase deficiency 'dihydropyrimidine dehydrogenase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' 'dihydropyrimidine dehydrogenase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009151 cleft lip/palate-ectodermal dysplasia syndrome 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'autosomal recessive disease' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'orofacial cleft' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'autosomal recessive disease' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0009150 hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 'hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf 'endocrine system disease' 'hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis 'familial thyroid dyshormonogenesis' SubClassOf 'congenital hypothyroidism' 'familial thyroid dyshormonogenesis' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0010134 Pendred syndrome 'Pendred syndrome' SubClassOf 'syndromic disease' 'Pendred syndrome' SubClassOf 'autosomal recessive disease' 'Pendred syndrome' SubClassOf 'congenital hypothyroidism' 'Pendred syndrome' SubClassOf 'syndromic disease' 'Pendred syndrome' SubClassOf 'autosomal recessive disease' 'Pendred syndrome' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0024797 adult brain stem neoplasm 'adult brain stem neoplasm' SubClassOf 'brain stem neoplasm' 'adult brain stem neoplasm' SubClassOf 'brain stem neoplasm' http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency 'transcobalamin II deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'transcobalamin II deficiency' SubClassOf 'immune system disease' 'transcobalamin II deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'transcobalamin II deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'transcobalamin II deficiency' SubClassOf 'immune system disease' 'transcobalamin II deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0009159 Ehlers-Danlos syndrome, cardiac valvular type 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0009158 Ehlers-Danlos syndrome, fibronectinemic type 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'inherited bleeding disorder, platelet-type' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'inherited blood coagulation disorder' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'inherited bleeding disorder, platelet-type' 'Ehlers-Danlos syndrome, fibronectinemic type' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0009156 ectrodactyly-polydactyly syndrome 'ectrodactyly-polydactyly syndrome' SubClassOf 'syndromic disease' 'ectrodactyly-polydactyly syndrome' SubClassOf 'congenital limb malformation' 'ectrodactyly-polydactyly syndrome' SubClassOf 'syndromic disease' 'ectrodactyly-polydactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome 'EEM syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'EEM syndrome' SubClassOf 'hereditary macular dystrophy' 'EEM syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'EEM syndrome' SubClassOf 'hereditary macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009154 hypothyroidism, congenital, nongoitrous, 5 'hypothyroidism, congenital, nongoitrous, 5' SubClassOf 'hypothyroidism, congenital, nongoitrous' 'hypothyroidism, congenital, nongoitrous, 5' SubClassOf 'hypothyroidism, congenital, nongoitrous' http://purl.obolibrary.org/obo/MONDO_0010142 hypothyroidism due to TSH receptor mutations 'hypothyroidism due to TSH receptor mutations' SubClassOf 'hypothyroidism, congenital, nongoitrous' 'hypothyroidism due to TSH receptor mutations' SubClassOf 'hypothyroidism, congenital, nongoitrous' http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome 'Ellis-van Creveld syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Ellis-van Creveld syndrome' SubClassOf 'Jeune syndrome' 'Ellis-van Creveld syndrome' SubClassOf 'autosomal recessive disease' 'Ellis-van Creveld syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Ellis-van Creveld syndrome' SubClassOf 'Jeune syndrome' 'Ellis-van Creveld syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010144 tibial hemimelia 'tibial hemimelia' SubClassOf 'hemimelia' 'tibial hemimelia' SubClassOf 'hemimelia' http://purl.obolibrary.org/obo/MONDO_0009161 Ehlers-Danlos syndrome, dermatosparaxis type 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0010140 isolated thyrotropin-releasing hormone deficiency 'isolated thyrotropin-releasing hormone deficiency' SubClassOf 'central congenital hypothyroidism' 'isolated thyrotropin-releasing hormone deficiency' SubClassOf 'central congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0009168 Fowler syndrome 'Fowler syndrome' SubClassOf 'disorder of development or morphogenesis' 'Fowler syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0009167 Bonnemann-Meinecke-Reich syndrome 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'syndromic disease' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'Mendelian encephalopathy' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'syndromic disease' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'Mendelian encephalopathy' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009166 pontocerebellar hypoplasia type 4 'pontocerebellar hypoplasia type 4' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 4' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0009165 Aicardi-Goutieres syndrome 1 'Aicardi-Goutieres syndrome 1' SubClassOf 'TREX1-related type 1 interferonopathy' 'Aicardi-Goutieres syndrome 1' SubClassOf 'Aicardi-Goutieres syndrome' 'Aicardi-Goutieres syndrome 1' SubClassOf 'TREX1-related type 1 interferonopathy' 'Aicardi-Goutieres syndrome 1' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0010153 trichoodontoonychial dysplasia 'trichoodontoonychial dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'trichoodontoonychial dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010152 trichomegaly-retina pigmentary degeneration-dwarfism syndrome 'trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'trichomegaly-retina pigmentary degeneration-dwarfism syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009173 congenital enteropathy due to enteropeptidase deficiency 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'digestive system disease' 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0010155 Dorfman-Chanarin disease 'Dorfman-Chanarin disease' SubClassOf 'neutral lipid storage disease' 'Dorfman-Chanarin disease' SubClassOf 'neutral lipid storage disease' http://purl.obolibrary.org/obo/MONDO_0010154 trigonocephaly-bifid nose-acral anomalies syndrome 'trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010156 Troyer syndrome 'Troyer syndrome' SubClassOf 'complex hereditary spastic paraplegia' 'Troyer syndrome' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0010159 mismatch repair cancer syndrome 1 'mismatch repair cancer syndrome 1' SubClassOf 'hereditary neoplastic syndrome' 'mismatch repair cancer syndrome 1' SubClassOf 'mismatch repair cancer syndrome' 'mismatch repair cancer syndrome 1' SubClassOf 'hereditary neoplastic syndrome' 'mismatch repair cancer syndrome 1' SubClassOf 'mismatch repair cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0010158 T-substance anomaly 'T-substance anomaly' SubClassOf 'genetic disorder' 'T-substance anomaly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009179 recessive dystrophic epidermolysis bullosa 'recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' 'recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 'late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome' SubClassOf 'junctional epidermolysis bullosa' 'late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0010164 phocomelia, Schinzel type 'phocomelia, Schinzel type' SubClassOf 'non-syndromic limb reduction defect' 'phocomelia, Schinzel type' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/MONDO_0009185 amelocerebrohypohidrotic syndrome 'amelocerebrohypohidrotic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'amelocerebrohypohidrotic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009183 junctional epidermolysis bullosa with pyloric atresia 'junctional epidermolysis bullosa with pyloric atresia' SubClassOf 'junctional epidermolysis bullosa' 'junctional epidermolysis bullosa with pyloric atresia' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0010165 ulna hypoplasia-intellectual disability syndrome 'ulna hypoplasia-intellectual disability syndrome' SubClassOf 'genetic disorder' 'ulna hypoplasia-intellectual disability syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009182 junctional epidermolysis bullosa Herlitz type 'junctional epidermolysis bullosa Herlitz type' SubClassOf 'junctional epidermolysis bullosa' 'junctional epidermolysis bullosa Herlitz type' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 'Usher syndrome type 1' SubClassOf 'Usher syndrome' 'Usher syndrome type 1' SubClassOf 'Usher syndrome' http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'qualitative or quantitative defects of plectin' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'syndromic disease' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'qualitative or quantitative defects of plectin' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'syndromic disease' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0010167 urocanic aciduria 'urocanic aciduria' SubClassOf 'inborn disorder of histidine metabolism' 'urocanic aciduria' SubClassOf 'inborn disorder of histidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009180 junctional epidermolysis bullosa, non-Herlitz type 'junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa' 'junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0010169 Usher syndrome type 2A 'Usher syndrome type 2A' SubClassOf 'Usher syndrome type 2' 'Usher syndrome type 2A' SubClassOf 'Usher syndrome type 2' http://purl.obolibrary.org/obo/MONDO_0010160 tyrosinemia type II 'tyrosinemia type II' SubClassOf 'tyrosinemia' 'tyrosinemia type II' SubClassOf 'focal palmoplantar keratoderma' 'tyrosinemia type II' SubClassOf 'focal palmoplantar keratoderma' 'tyrosinemia type II' SubClassOf 'tyrosinemia' http://purl.obolibrary.org/obo/MONDO_0010162 tyrosinemia type III 'tyrosinemia type III' SubClassOf 'tyrosinemia' 'tyrosinemia type III' SubClassOf 'tyrosinemia' http://purl.obolibrary.org/obo/MONDO_0010161 tyrosinemia type I 'tyrosinemia type I' SubClassOf 'tyrosinemia' 'tyrosinemia type I' SubClassOf 'tyrosinemia' http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 'multiple epiphyseal dysplasia type 4' SubClassOf 'mineral metabolism disease' 'multiple epiphyseal dysplasia type 4' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 4' SubClassOf 'mineral metabolism disease' 'multiple epiphyseal dysplasia type 4' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009188 epilepsy-telangiectasia syndrome 'epilepsy-telangiectasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'epilepsy-telangiectasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009196 ermine phenotype 'ermine phenotype' SubClassOf 'syndromic disease' 'ermine phenotype' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010176 orofaciodigital syndrome type 6 'orofaciodigital syndrome type 6' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 6' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'orofaciodigital syndrome type 6' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome 'Wolcott-Rallison syndrome' SubClassOf 'syndromic disease' 'Wolcott-Rallison syndrome' SubClassOf 'autosomal recessive disease' 'Wolcott-Rallison syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Wolcott-Rallison syndrome' SubClassOf 'syndromic disease' 'Wolcott-Rallison syndrome' SubClassOf 'autosomal recessive disease' 'Wolcott-Rallison syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation 'congenital bilateral aplasia of vas deferens from CFTR mutation' SubClassOf 'congenital bilateral absence of vas deferens' 'congenital bilateral aplasia of vas deferens from CFTR mutation' SubClassOf 'congenital bilateral absence of vas deferens' http://purl.obolibrary.org/obo/MONDO_0009191 Lowry-Wood syndrome 'Lowry-Wood syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'Lowry-Wood syndrome' SubClassOf 'RNU4ATAC spectrum disorder' 'Lowry-Wood syndrome' SubClassOf 'primordial dwarfism and slender bone disorder' 'Lowry-Wood syndrome' SubClassOf 'RNU4ATAC spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0010171 Usher syndrome type 1C 'Usher syndrome type 1C' SubClassOf 'Usher syndrome type 1' 'Usher syndrome type 1C' SubClassOf 'Usher syndrome type 1' http://purl.obolibrary.org/obo/MONDO_0010170 Usher syndrome type 3A 'Usher syndrome type 3A' SubClassOf 'Usher syndrome type 3' 'Usher syndrome type 3A' SubClassOf 'Usher syndrome type 3' http://purl.obolibrary.org/obo/MONDO_0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 'Mayer-Rokitansky-Kuster-Hauser syndrome type 1' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' 'Mayer-Rokitansky-Kuster-Hauser syndrome type 1' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'syndromic disease' 'VACTERL with hydrocephalus' SubClassOf 'disease shares features of' some 'VACTERL/vater association' 'VACTERL with hydrocephalus' SubClassOf 'syndromic disease' 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'VACTERL/vater association' http://purl.obolibrary.org/obo/MONDO_0034121 NAD(P)HX dehydratase deficiency 'NAD(P)HX dehydratase deficiency' SubClassOf 'inborn errors of metabolism' 'NAD(P)HX dehydratase deficiency' SubClassOf 'encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy' 'NAD(P)HX dehydratase deficiency' SubClassOf 'inborn errors of metabolism' 'NAD(P)HX dehydratase deficiency' SubClassOf 'encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy' http://purl.obolibrary.org/obo/MONDO_0009198 congenital lethal erythroderma 'congenital lethal erythroderma' SubClassOf 'skin disease' 'congenital lethal erythroderma' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0010185 methylmalonic aciduria and homocystinuria type cblD 'methylmalonic aciduria and homocystinuria type cblD' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic aciduria and homocystinuria type cblD' SubClassOf 'methylmalonic aciduria and/or homocystinuria, cblD type' 'methylmalonic aciduria and homocystinuria type cblD' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic aciduria and homocystinuria type cblD' SubClassOf 'methylmalonic aciduria and/or homocystinuria, cblD type' http://purl.obolibrary.org/obo/MONDO_0010188 familial isolated deficiency of vitamin E 'familial isolated deficiency of vitamin E' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'familial isolated deficiency of vitamin E' SubClassOf 'hereditary peripheral neuropathy' 'familial isolated deficiency of vitamin E' SubClassOf 'vitamin metabolic disorder' 'familial isolated deficiency of vitamin E' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'familial isolated deficiency of vitamin E' SubClassOf 'hereditary peripheral neuropathy' 'familial isolated deficiency of vitamin E' SubClassOf 'vitamin metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 'vitamin K-dependent clotting factors, combined deficiency of, type 1' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' 'vitamin K-dependent clotting factors, combined deficiency of, type 1' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/MONDO_0010180 autosomal recessive spondylocostal dysostosis 'autosomal recessive spondylocostal dysostosis' SubClassOf 'disorder of fucoglycosan synthesis' 'autosomal recessive spondylocostal dysostosis' SubClassOf 'spondylocostal dysostosis' 'autosomal recessive spondylocostal dysostosis' SubClassOf 'disorder of fucoglycosan synthesis' 'autosomal recessive spondylocostal dysostosis' SubClassOf 'spondylocostal dysostosis' http://purl.obolibrary.org/obo/MONDO_0010181 oculogastrointestinal muscular dystrophy 'oculogastrointestinal muscular dystrophy' SubClassOf 'disorder of visual system' 'oculogastrointestinal muscular dystrophy' SubClassOf 'intestinal motility disease' 'oculogastrointestinal muscular dystrophy' SubClassOf 'disorder of visual system' 'oculogastrointestinal muscular dystrophy' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC 'methylmalonic aciduria and homocystinuria type cblC' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic aciduria and homocystinuria type cblC' SubClassOf 'hereditary peripheral neuropathy' 'methylmalonic aciduria and homocystinuria type cblC' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic aciduria and homocystinuria type cblC' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0010183 methylmalonic aciduria and homocystinuria type cblF 'methylmalonic aciduria and homocystinuria type cblF' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic aciduria and homocystinuria type cblF' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0010196 Werner syndrome 'Werner syndrome' SubClassOf 'autosomal recessive disease' 'Werner syndrome' SubClassOf 'progeroid syndrome' 'Werner syndrome' SubClassOf 'syndromic disease' 'Werner syndrome' SubClassOf 'autosomal recessive disease' 'Werner syndrome' SubClassOf 'progeroid syndrome' 'Werner syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010199 white forelock with malformations 'white forelock with malformations' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'white forelock with malformations' SubClassOf 'heart disease' 'white forelock with malformations' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'white forelock with malformations' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0010191 von Willebrand disease 3 'von Willebrand disease 3' SubClassOf 'hereditary von Willebrand disease' 'von Willebrand disease 3' SubClassOf 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0010190 pontocerebellar hypoplasia type 2A 'pontocerebellar hypoplasia type 2A' SubClassOf 'pontocerebellar hypoplasia type 2' 'pontocerebellar hypoplasia type 2A' SubClassOf 'pontocerebellar hypoplasia type 2' http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome 'Weaver syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver syndrome' SubClassOf 'overgrowth syndrome' 'Weaver syndrome' SubClassOf 'syndromic disease' 'Weaver syndrome' SubClassOf 'skeletal dysplasia' 'Weaver syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Weaver syndrome' SubClassOf 'overgrowth syndrome' 'Weaver syndrome' SubClassOf 'syndromic disease' 'Weaver syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010192 Waardenburg syndrome type 4A 'Waardenburg syndrome type 4A' SubClassOf 'Waardenburg-Shah syndrome' 'Waardenburg syndrome type 4A' SubClassOf 'Waardenburg-Shah syndrome' http://purl.obolibrary.org/obo/MONDO_0034145 oculocerebrodental syndrome 'oculocerebrodental syndrome' SubClassOf 'syndromic disease' 'oculocerebrodental syndrome' SubClassOf 'ciliopathy' 'oculocerebrodental syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'oculocerebrodental syndrome' SubClassOf 'syndromic disease' 'oculocerebrodental syndrome' SubClassOf 'ciliopathy' 'oculocerebrodental syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0005405 childhood onset asthma 'childhood onset asthma' SubClassOf 'asthma' 'childhood onset asthma' SubClassOf 'asthma' http://purl.obolibrary.org/obo/MONDO_0005411 gallbladder cancer 'gallbladder cancer' SubClassOf 'gallbladder neoplasm' 'gallbladder cancer' SubClassOf 'gallbladder neoplasm' http://purl.obolibrary.org/obo/MONDO_0030437 congenital disorder of glycosylation, type IIw 'congenital disorder of glycosylation, type IIw' SubClassOf 'congenital disorder of glycosylation type II' 'congenital disorder of glycosylation, type IIw' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0030434 epilepsy, idiopathic generalized, susceptibility to, 18 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf 'inherited disease susceptibility' 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf 'inherited disease susceptibility' 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0030433 Charcot-Marie-Tooth disease, axonal, type 2FF 'Charcot-Marie-Tooth disease, axonal, type 2FF' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease, axonal, type 2FF' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0005475 migraine with aura 'migraine with aura' SubClassOf 'migraine disorder' 'migraine with aura' SubClassOf 'migraine disorder' http://purl.obolibrary.org/obo/MONDO_0030423 congenital disorder of glycosylation, type 2v 'congenital disorder of glycosylation, type 2v' SubClassOf 'congenital disorder of glycosylation type II' 'congenital disorder of glycosylation, type 2v' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0005499 brain glioma 'brain glioma' SubClassOf 'malignant glioma' 'brain glioma' SubClassOf 'brain cancer' 'brain glioma' SubClassOf 'malignant glioma' 'brain glioma' SubClassOf 'brain cancer' http://purl.obolibrary.org/obo/MONDO_0030458 Charcot-Marie-Tooth disease, axonal, Type 2HH 'Charcot-Marie-Tooth disease, axonal, Type 2HH' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease, axonal, Type 2HH' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0030454 Joubert syndrome 39 'Joubert syndrome 39' SubClassOf 'Joubert syndrome' 'Joubert syndrome 39' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0030473 developmental and epileptic encephalopathy 99 'developmental and epileptic encephalopathy 99' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 99' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030472 developmental and epileptic encephalopathy 98 'developmental and epileptic encephalopathy 98' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 98' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030491 immunodeficiency 91 and hyperinflammation 'immunodeficiency 91 and hyperinflammation' SubClassOf 'immunodeficiency disease' 'immunodeficiency 91 and hyperinflammation' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030489 epidermolysis bullosa simplex 2A, generalized severe 'epidermolysis bullosa simplex 2A, generalized severe' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 2A, generalized severe' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0030487 spondylometaphyseal dysplasia, pagnamenta type 'spondylometaphyseal dysplasia, pagnamenta type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, pagnamenta type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0030480 hearing loss, autosomal recessive 119 'hearing loss, autosomal recessive 119' SubClassOf 'hearing loss, autosomal recessive' 'hearing loss, autosomal recessive 119' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0019907 ring chromosome 13 'ring chromosome 13' SubClassOf 'syndromic disease' 'ring chromosome 13' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019902 monosomy 13q34 'monosomy 13q34' SubClassOf 'syndromic disease' 'monosomy 13q34' SubClassOf 'partial deletion of the long arm of chromosome 13' 'monosomy 13q34' SubClassOf 'syndromic disease' 'monosomy 13q34' SubClassOf 'partial deletion of the long arm of chromosome 13' http://purl.obolibrary.org/obo/MONDO_0019901 non-distal monosomy 20q 'non-distal monosomy 20q' SubClassOf 'partial deletion of the long arm of chromosome 20' 'non-distal monosomy 20q' SubClassOf 'partial deletion of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0019900 non-distal monosomy 12q 'non-distal monosomy 12q' SubClassOf 'partial deletion of the long arm of chromosome 12' 'non-distal monosomy 12q' SubClassOf 'partial deletion of the long arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0019918 maternal uniparental disomy of chromosome 21 'maternal uniparental disomy of chromosome 21' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 21' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019917 maternal uniparental disomy of chromosome 20 'maternal uniparental disomy of chromosome 20' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 20' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019919 maternal uniparental disomy of chromosome 22 'maternal uniparental disomy of chromosome 22' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 22' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019914 maternal uniparental disomy of chromosome 9 'maternal uniparental disomy of chromosome 9' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 9' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019913 silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'uniparental disomy' 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Silver-Russell syndrome' 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'uniparental disomy' 'silver-Russell syndrome due to maternal uniparental disomy of chromosome 7' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0019916 maternal uniparental disomy of chromosome 16 'maternal uniparental disomy of chromosome 16' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 16' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019915 maternal uniparental disomy of chromosome 14 'maternal uniparental disomy of chromosome 14' SubClassOf 'motor developmental delay due to 14q32.2 paternally expressed gene defect' 'maternal uniparental disomy of chromosome 14' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 14' SubClassOf 'motor developmental delay due to 14q32.2 paternally expressed gene defect' 'maternal uniparental disomy of chromosome 14' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019910 maternal uniparental disomy of chromosome 2 'maternal uniparental disomy of chromosome 2' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 2' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019912 maternal uniparental disomy of chromosome 6 'maternal uniparental disomy of chromosome 6' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 6' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019911 maternal uniparental disomy of chromosome 4 'maternal uniparental disomy of chromosome 4' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 4' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019929 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf 'pentasomy' '49,XXXXY syndrome' SubClassOf 'syndromic disease' '49,XXXXY syndrome' SubClassOf 'sex chromosome disorder of sex development' '49,XXXXY syndrome' SubClassOf 'pentasomy' '49,XXXXY syndrome' SubClassOf 'sex chromosome disorder of sex development' '49,XXXXY syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019928 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'sex chromosome disorder of sex development' '48,XXXY syndrome' SubClassOf 'syndromic disease' '48,XXXY syndrome' SubClassOf 'tetrasomy' '48,XXXY syndrome' SubClassOf 'sex chromosome disorder of sex development' '48,XXXY syndrome' SubClassOf 'syndromic disease' '48,XXXY syndrome' SubClassOf 'tetrasomy' http://purl.obolibrary.org/obo/MONDO_0019925 paternal uniparental disomy of chromosome 21 'paternal uniparental disomy of chromosome 21' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 21' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019924 paternal uniparental disomy of chromosome 20 'paternal uniparental disomy of chromosome 20' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 20' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019926 X small rings 'X small rings' SubClassOf 'inherited primary ovarian failure' 'X small rings' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0019921 paternal uniparental disomy of chromosome 6 'paternal uniparental disomy of chromosome 6' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 6' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019920 paternal uniparental disomy of chromosome 5 'paternal uniparental disomy of chromosome 5' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 5' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019923 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'uniparental disomy' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019922 paternal uniparental disomy of chromosome 7 'paternal uniparental disomy of chromosome 7' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 7' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0044903 myelofibrosis 'myelofibrosis' SubClassOf 'chronic myeloproliferative disorder' 'myelofibrosis' SubClassOf 'chronic myeloproliferative disorder' http://purl.obolibrary.org/obo/MONDO_0019935 isochromosome Y 'isochromosome Y' SubClassOf 'chromosome Y disorder' 'isochromosome Y' SubClassOf 'chromosome Y disorder' http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation 'anorectal malformation' SubClassOf 'disorder of development or morphogenesis' 'anorectal malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019934 polyploidy 'polyploidy' SubClassOf 'chromosomal disorder' 'polyploidy' SubClassOf 'chromosomal disorder' http://purl.obolibrary.org/obo/MONDO_0044907 metastatic squamous cell carcinoma 'metastatic squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'metastatic squamous cell carcinoma' SubClassOf 'metastatic carcinoma' 'metastatic squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'metastatic squamous cell carcinoma' SubClassOf 'metastatic carcinoma' http://purl.obolibrary.org/obo/MONDO_0044906 bladder urothelial papilloma 'bladder urothelial papilloma' SubClassOf 'bladder benign neoplasm' 'bladder urothelial papilloma' SubClassOf 'non-invasive bladder papillary urothelial neoplasm' 'bladder urothelial papilloma' SubClassOf 'urothelial papilloma' 'bladder urothelial papilloma' SubClassOf 'bladder benign neoplasm' 'bladder urothelial papilloma' SubClassOf 'non-invasive bladder papillary urothelial neoplasm' 'bladder urothelial papilloma' SubClassOf 'urothelial papilloma' http://purl.obolibrary.org/obo/MONDO_0005301 multiple sclerosis 'multiple sclerosis' SubClassOf 'demyelinating disease of central nervous system' 'multiple sclerosis' SubClassOf 'brain disease' 'multiple sclerosis' SubClassOf 'CNS demyelinating autoimmune disease' 'multiple sclerosis' SubClassOf 'demyelinating disease of central nervous system' 'multiple sclerosis' SubClassOf 'brain disease' 'multiple sclerosis' SubClassOf 'CNS demyelinating autoimmune disease' http://purl.obolibrary.org/obo/MONDO_0044913 metastatic malignant neoplasm in the eye 'metastatic malignant neoplasm in the eye' SubClassOf 'ocular cancer' 'metastatic malignant neoplasm in the eye' SubClassOf 'metastatic malignant neoplasm' 'metastatic malignant neoplasm in the eye' SubClassOf 'ocular cancer' 'metastatic malignant neoplasm in the eye' SubClassOf 'metastatic malignant neoplasm' http://purl.obolibrary.org/obo/MONDO_0019949 zebra body myopathy 'zebra body myopathy' SubClassOf 'alpha-actinopathy' 'zebra body myopathy' SubClassOf 'alpha-actinopathy' http://purl.obolibrary.org/obo/MONDO_0044916 extrarenal rhabdoid tumor 'extrarenal rhabdoid tumor' SubClassOf 'childhood cancer' 'extrarenal rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' 'extrarenal rhabdoid tumor' SubClassOf 'childhood cancer' 'extrarenal rhabdoid tumor' SubClassOf 'malignant rhabdoid tumour' http://purl.obolibrary.org/obo/MONDO_0019948 reducing body myopathy 'reducing body myopathy' SubClassOf 'congenital myopathy' 'reducing body myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0044915 salivary duct carcinoma 'salivary duct carcinoma' SubClassOf 'Cribriform Carcinoma' 'salivary duct carcinoma' SubClassOf 'Cribriform Carcinoma' http://purl.obolibrary.org/obo/MONDO_0019943 hereditary continuous muscle fiber activity 'hereditary continuous muscle fiber activity' SubClassOf 'syndromic disease' 'hereditary continuous muscle fiber activity' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019942 distal arthrogryposis 'distal arthrogryposis' SubClassOf 'arthrogryposis syndrome' 'distal arthrogryposis' SubClassOf 'muscle tissue disorder' 'distal arthrogryposis' SubClassOf 'arthrogryposis syndrome' 'distal arthrogryposis' SubClassOf 'muscle tissue disorder' http://purl.obolibrary.org/obo/MONDO_0044912 metastatic malignant neoplasm in the spinal cord 'metastatic malignant neoplasm in the spinal cord' SubClassOf 'spinal cord cancer' 'metastatic malignant neoplasm in the spinal cord' SubClassOf 'spinal cord cancer' http://purl.obolibrary.org/obo/MONDO_0019941 hereditary sensory and autonomic neuropathy type 2 'hereditary sensory and autonomic neuropathy type 2' SubClassOf 'hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 2' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0019940 hypertrichosis-acromegaloid facial appearance syndrome 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'hypertrichosis' 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'hypertrichosis' 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044917 T-lymphoblastic lymphoma 'T-lymphoblastic lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'T-lymphoblastic lymphoma' SubClassOf 'precursor T-lymphoblastic lymphoma/leukemia' 'T-lymphoblastic lymphoma' SubClassOf 'lymphoblastic lymphoma' 'T-lymphoblastic lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'T-lymphoblastic lymphoma' SubClassOf 'precursor T-lymphoblastic lymphoma/leukemia' 'T-lymphoblastic lymphoma' SubClassOf 'lymphoblastic lymphoma' http://purl.obolibrary.org/obo/MONDO_0020927 postaxial polydactyly 'postaxial polydactyly' SubClassOf 'non-syndromic polydactyly' 'postaxial polydactyly' SubClassOf 'non-syndromic polydactyly' http://purl.obolibrary.org/obo/MONDO_0044919 malignant renal pelvis neoplasm 'malignant renal pelvis neoplasm' SubClassOf 'kidney cancer' 'malignant renal pelvis neoplasm' SubClassOf 'renal pelvis neoplasm' 'malignant renal pelvis neoplasm' SubClassOf 'kidney cancer' 'malignant renal pelvis neoplasm' SubClassOf 'renal pelvis neoplasm' http://purl.obolibrary.org/obo/MONDO_0020950 viral eye infection 'viral eye infection' SubClassOf 'viral disease' 'viral eye infection' SubClassOf 'eye infectious disorder' 'viral eye infection' SubClassOf 'viral disease' 'viral eye infection' SubClassOf 'eye infectious disorder' http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis 'encephalitis' SubClassOf 'brain disease' 'encephalitis' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0019950 congenital muscular dystrophy 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy' 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0019952 congenital myopathy 'congenital myopathy' SubClassOf 'myopathy' 'congenital myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0019951 rigid spine syndrome 'rigid spine syndrome' SubClassOf 'congenital muscular dystrophy' 'rigid spine syndrome' SubClassOf 'qualitative or quantitative defects of selenoprotein N1' 'rigid spine syndrome' SubClassOf 'qualitative or quantitative defects of desmin' 'rigid spine syndrome' SubClassOf 'congenital muscular dystrophy' 'rigid spine syndrome' SubClassOf 'qualitative or quantitative defects of selenoprotein N1' 'rigid spine syndrome' SubClassOf 'qualitative or quantitative defects of desmin' http://purl.obolibrary.org/obo/MONDO_0005321 Fuchs' endothelial dystrophy 'Fuchs' endothelial dystrophy' SubClassOf 'posterior corneal dystrophy' 'Fuchs' endothelial dystrophy' SubClassOf 'corneal endothelial dystrophy' 'Fuchs' endothelial dystrophy' SubClassOf 'posterior corneal dystrophy' 'Fuchs' endothelial dystrophy' SubClassOf 'corneal endothelial dystrophy' http://purl.obolibrary.org/obo/MONDO_0020947 parasitic eye infection 'parasitic eye infection' SubClassOf 'parasitic infection' 'parasitic eye infection' SubClassOf 'eye infectious disorder' 'parasitic eye infection' SubClassOf 'parasitic infection' 'parasitic eye infection' SubClassOf 'eye infectious disorder' http://purl.obolibrary.org/obo/MONDO_0020944 fungal infection of eye 'fungal infection of eye' SubClassOf 'fungal infectious disease' 'fungal infection of eye' SubClassOf 'eye infectious disorder' 'fungal infection of eye' SubClassOf 'fungal infectious disease' 'fungal infection of eye' SubClassOf 'eye infectious disorder' http://purl.obolibrary.org/obo/MONDO_0019964 thymic neuroendocrine tumor 'thymic neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'thymic neuroendocrine tumor' SubClassOf 'thymus neoplasm' 'thymic neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'thymic neuroendocrine tumor' SubClassOf 'thymus neoplasm' http://purl.obolibrary.org/obo/MONDO_0019962 thyroid lymphoma 'thyroid lymphoma' SubClassOf 'primary organ-specific lymphoma' 'thyroid lymphoma' SubClassOf 'thyroid cancer' 'thyroid lymphoma' SubClassOf 'primary organ-specific lymphoma' 'thyroid lymphoma' SubClassOf 'thyroid cancer' http://purl.obolibrary.org/obo/MONDO_0020971 gonococcal urethritis 'gonococcal urethritis' SubClassOf 'urethritis' 'gonococcal urethritis' SubClassOf 'urethritis' http://purl.obolibrary.org/obo/MONDO_0019979 renal hypoplasia, unilateral 'renal hypoplasia, unilateral' SubClassOf 'renal hypoplasia' 'renal hypoplasia, unilateral' SubClassOf 'renal hypoplasia' http://purl.obolibrary.org/obo/MONDO_0019978 Robinow syndrome 'Robinow syndrome' SubClassOf 'syndromic disease' 'Robinow syndrome' SubClassOf 'skeletal dysplasia' 'Robinow syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Robinow syndrome' SubClassOf 'syndromic disease' 'Robinow syndrome' SubClassOf 'skeletal dysplasia' 'Robinow syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0005341 skin basal cell carcinoma 'skin basal cell carcinoma' SubClassOf 'basal cell carcinoma' 'skin basal cell carcinoma' SubClassOf 'basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0019986 sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy 'sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'sporadic idiopathic steroid-resistant nephrotic syndrome' 'sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy' SubClassOf 'sporadic idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0044956 paranasal sinus mucoepidermoid carcinoma 'paranasal sinus mucoepidermoid carcinoma' SubClassOf 'paranasal sinus carcinoma' 'paranasal sinus mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'paranasal sinus mucoepidermoid carcinoma' SubClassOf 'paranasal sinus carcinoma' 'paranasal sinus mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://purl.obolibrary.org/obo/MONDO_0019982 bilateral multicystic dysplastic kidney 'bilateral multicystic dysplastic kidney' SubClassOf 'multicystic dysplastic kidney' 'bilateral multicystic dysplastic kidney' SubClassOf 'multicystic dysplastic kidney' http://purl.obolibrary.org/obo/MONDO_0019985 drug-related renal tubular dysgenesis 'drug-related renal tubular dysgenesis' SubClassOf 'renal tubular dysgenesis' 'drug-related renal tubular dysgenesis' SubClassOf 'renal tubular dysgenesis' http://purl.obolibrary.org/obo/MONDO_0019981 unilateral multicystic dysplastic kidney 'unilateral multicystic dysplastic kidney' SubClassOf 'multicystic dysplastic kidney' 'unilateral multicystic dysplastic kidney' SubClassOf 'multicystic dysplastic kidney' http://purl.obolibrary.org/obo/MONDO_0019980 renal hypoplasia, bilateral 'renal hypoplasia, bilateral' SubClassOf 'renal hypoplasia' 'renal hypoplasia, bilateral' SubClassOf 'renal hypoplasia' http://purl.obolibrary.org/obo/MONDO_0005351 anorexia nervosa 'anorexia nervosa' SubClassOf 'eating disorder' 'anorexia nervosa' SubClassOf 'eating disorder' http://purl.obolibrary.org/obo/MONDO_0044925 oral cavity carcinoma 'oral cavity carcinoma' SubClassOf 'oral cavity cancer' 'oral cavity carcinoma' SubClassOf 'lip and oral cavity carcinoma' 'oral cavity carcinoma' SubClassOf 'oral cavity cancer' 'oral cavity carcinoma' SubClassOf 'lip and oral cavity carcinoma' http://purl.obolibrary.org/obo/MONDO_0044926 oropharyngeal carcinoma 'oropharyngeal carcinoma' SubClassOf 'oropharynx cancer' 'oropharyngeal carcinoma' SubClassOf 'carcinoma of pharynx' 'oropharyngeal carcinoma' SubClassOf 'oropharynx cancer' 'oropharyngeal carcinoma' SubClassOf 'carcinoma of pharynx' http://purl.obolibrary.org/obo/MONDO_0044923 acute myeloid leukemia with mutated NPM1 'acute myeloid leukemia with mutated NPM1' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia with mutated NPM1' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0019994 maternal uniparental disomy of chromosome 13 'maternal uniparental disomy of chromosome 13' SubClassOf 'uniparental disomy' 'maternal uniparental disomy of chromosome 13' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019995 peripheral resistance to thyroid hormones 'peripheral resistance to thyroid hormones' SubClassOf 'peripheral hypothyroidism' 'peripheral resistance to thyroid hormones' SubClassOf 'peripheral hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0019992 pseudohypoparathyroidism 'pseudohypoparathyroidism' SubClassOf 'inherited renal tubular disease' 'pseudohypoparathyroidism' SubClassOf 'hereditary hypoparathyroidism' 'pseudohypoparathyroidism' SubClassOf 'inborn metal metabolism disorder' 'pseudohypoparathyroidism' SubClassOf 'developmental anomaly of metabolic origin' 'pseudohypoparathyroidism' SubClassOf 'inherited renal tubular disease' 'pseudohypoparathyroidism' SubClassOf 'hereditary hypoparathyroidism' 'pseudohypoparathyroidism' SubClassOf 'inborn metal metabolism disorder' 'pseudohypoparathyroidism' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0030308 immunodeficiency 82 with systemic inflammation 'immunodeficiency 82 with systemic inflammation' SubClassOf 'immunodeficiency disease' 'immunodeficiency 82 with systemic inflammation' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030309 Leber hereditary optic neuropathy, autosomal recessive 'Leber hereditary optic neuropathy, autosomal recessive' SubClassOf 'mitochondrial complex I deficiency, nuclear type' 'Leber hereditary optic neuropathy, autosomal recessive' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0044937 rectal carcinoma 'rectal carcinoma' SubClassOf 'colorectal carcinoma' 'rectal carcinoma' SubClassOf 'rectum cancer' 'rectal carcinoma' SubClassOf 'rectum cancer' 'rectal carcinoma' SubClassOf 'colorectal carcinoma' http://purl.obolibrary.org/obo/MONDO_0030334 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 'encephalitis, acute, infection (viral)-induced, susceptibility to, 11' SubClassOf 'encephalitis, acute, infection-induced, susceptibility to' 'encephalitis, acute, infection (viral)-induced, susceptibility to, 11' SubClassOf 'encephalitis, acute, infection-induced, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm 'benign lipomatous neoplasm' SubClassOf 'tumor of adipose tissue' 'benign lipomatous neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' 'benign lipomatous neoplasm' SubClassOf 'tumor of adipose tissue' 'benign lipomatous neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0005374 bone marrow neoplasm 'bone marrow neoplasm' SubClassOf 'bone marrow disorder' 'bone marrow neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'bone marrow neoplasm' SubClassOf 'bone marrow disorder' 'bone marrow neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/MONDO_0030331 Ritscher-Schinzel syndrome 4 'Ritscher-Schinzel syndrome 4' SubClassOf 'Ritscher-Schinzel syndrome' 'Ritscher-Schinzel syndrome 4' SubClassOf 'Ritscher-Schinzel syndrome' http://purl.obolibrary.org/obo/MONDO_0030330 cardiomyopathy, familial restrictive, 6 'cardiomyopathy, familial restrictive, 6' SubClassOf 'familial restrictive cardiomyopathy' 'cardiomyopathy, familial restrictive, 6' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0030332 ciliary dyskinesia, primary, 46 'ciliary dyskinesia, primary, 46' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 46' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 'megacystis-microcolon-intestinal hypoperistalsis syndrome 5' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' 'megacystis-microcolon-intestinal hypoperistalsis syndrome 5' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' http://purl.obolibrary.org/obo/MONDO_0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) 'mitochondrial dna depletion syndrome 16B (neuroophthalmic type)' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial dna depletion syndrome 16B (neuroophthalmic type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0030356 short-rib thoracic dysplasia 21 without polydactyly 'short-rib thoracic dysplasia 21 without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 21 without polydactyly' SubClassOf 'Jeune syndrome' http://purl.obolibrary.org/obo/MONDO_0044964 oral cavity mucoepidermoid carcinoma 'oral cavity mucoepidermoid carcinoma' SubClassOf 'oral cavity carcinoma' 'oral cavity mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'oral cavity mucoepidermoid carcinoma' SubClassOf 'oral cavity carcinoma' 'oral cavity mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://purl.obolibrary.org/obo/MONDO_0030353 Joubert syndrome 38 'Joubert syndrome 38' SubClassOf 'Joubert syndrome' 'Joubert syndrome 38' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0030355 facioscapulohumeral muscular dystrophy 4, digenic 'facioscapulohumeral muscular dystrophy 4, digenic' SubClassOf 'facioscapulohumeral muscular dystrophy' 'facioscapulohumeral muscular dystrophy 4, digenic' SubClassOf 'facioscapulohumeral muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0044972 eosinophil disorder 'eosinophil disorder' SubClassOf 'leukocyte disorder' 'eosinophil disorder' SubClassOf 'leukocyte disorder' http://purl.obolibrary.org/obo/MONDO_0030341 myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 'myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive' SubClassOf 'congenital myasthenic syndrome' 'myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive' SubClassOf 'congenital myasthenic syndrome' http://www.ebi.ac.uk/efo/EFO_0005942 chemotherapy-induced hypertension 'chemotherapy-induced hypertension' SubClassOf 'hypertension' 'chemotherapy-induced hypertension' SubClassOf 'hypertension' http://purl.obolibrary.org/obo/MONDO_0030375 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2' SubClassOf 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset' 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2' SubClassOf 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset' http://purl.obolibrary.org/obo/MONDO_0030376 Martsolf syndrome 2 'Martsolf syndrome 2' SubClassOf 'Martsolf syndrome' 'Martsolf syndrome 2' SubClassOf 'Martsolf syndrome' http://www.ebi.ac.uk/efo/EFO_0005932 animal disease 'animal disease' SubClassOf 'disease' 'animal disease' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0005938 congenital left-sided heart lesions 'congenital left-sided heart lesions' SubClassOf 'congenital heart malformation' 'congenital left-sided heart lesions' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0030362 Aicardi-Goutieres syndrome 9 'Aicardi-Goutieres syndrome 9' SubClassOf 'RNU7-1-related type 1 interferonopathy' 'Aicardi-Goutieres syndrome 9' SubClassOf 'Aicardi-Goutieres syndrome' 'Aicardi-Goutieres syndrome 9' SubClassOf 'RNU7-1-related type 1 interferonopathy' 'Aicardi-Goutieres syndrome 9' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0030361 Aicardi-Goutieres syndrome 8 'Aicardi-Goutieres syndrome 8' SubClassOf 'Aicardi-Goutieres syndrome' 'Aicardi-Goutieres syndrome 8' SubClassOf 'Aicardi-Goutieres syndrome' http://purl.obolibrary.org/obo/MONDO_0030399 visceral neuropathy, familial, 2, autosomal recessive 'visceral neuropathy, familial, 2, autosomal recessive' SubClassOf 'visceral neuropathy, familial' 'visceral neuropathy, familial, 2, autosomal recessive' SubClassOf 'visceral neuropathy, familial' http://www.ebi.ac.uk/efo/EFO_0005952 non-Hodgkins lymphoma 'non-Hodgkins lymphoma' SubClassOf 'lymphoma' 'non-Hodgkins lymphoma' SubClassOf 'lymphoma' http://www.ebi.ac.uk/efo/EFO_0005950 head and neck neoplasia 'head and neck neoplasia' SubClassOf 'neoplasm' 'head and neck neoplasia' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0019808 aortic valve atresia 'aortic valve atresia' SubClassOf 'congenital heart disease' 'aortic valve atresia' SubClassOf 'congenital aortic valve stenosis' 'aortic valve atresia' SubClassOf 'congenital heart disease' 'aortic valve atresia' SubClassOf 'congenital aortic valve stenosis' http://purl.obolibrary.org/obo/MONDO_0019804 tracheomalacia 'tracheomalacia' SubClassOf 'otorhinolaryngologic disease' 'tracheomalacia' SubClassOf 'tracheal disorder' 'tracheomalacia' SubClassOf 'otorhinolaryngologic disease' 'tracheomalacia' SubClassOf 'tracheal disorder' http://purl.obolibrary.org/obo/MONDO_0019803 angioma serpiginosum 'angioma serpiginosum' SubClassOf 'capillary malformation' 'angioma serpiginosum' SubClassOf 'skin hemangioma' 'angioma serpiginosum' SubClassOf 'dermis tumor' 'angioma serpiginosum' SubClassOf 'skin vascular disease' 'angioma serpiginosum' SubClassOf 'capillary malformation' 'angioma serpiginosum' SubClassOf 'skin hemangioma' 'angioma serpiginosum' SubClassOf 'dermis tumor' 'angioma serpiginosum' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0019801 acute adrenal insufficiency 'acute adrenal insufficiency' SubClassOf 'primary adrenal insufficiency' 'acute adrenal insufficiency' SubClassOf 'primary adrenal insufficiency' http://purl.obolibrary.org/obo/MONDO_0019817 congenital mitral valve insufficiency and/or stenosis 'congenital mitral valve insufficiency and/or stenosis' SubClassOf 'congenital mitral malformation' 'congenital mitral valve insufficiency and/or stenosis' SubClassOf 'congenital mitral malformation' http://purl.obolibrary.org/obo/MONDO_0020811 mitochondrial complex III deficiency, nuclear type 'mitochondrial complex III deficiency, nuclear type' SubClassOf 'mitochondrial complex III deficiency' 'mitochondrial complex III deficiency, nuclear type' SubClassOf 'mitochondrial complex III deficiency' http://purl.obolibrary.org/obo/MONDO_0019828 pituitary stalk interruption syndrome 'pituitary stalk interruption syndrome' SubClassOf 'non-acquired pituitary hormone deficiency' 'pituitary stalk interruption syndrome' SubClassOf 'syndromic disease' 'pituitary stalk interruption syndrome' SubClassOf 'non-acquired pituitary hormone deficiency' 'pituitary stalk interruption syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020801 rectal medullary carcinoma 'rectal medullary carcinoma' SubClassOf 'rectal adenocarcinoma' 'rectal medullary carcinoma' SubClassOf 'colorectal medullary carcinoma' 'rectal medullary carcinoma' SubClassOf 'rectal adenocarcinoma' 'rectal medullary carcinoma' SubClassOf 'colorectal medullary carcinoma' http://purl.obolibrary.org/obo/MONDO_0020800 demyelinating disease of central nervous system 'demyelinating disease of central nervous system' SubClassOf 'demyelinating disease' 'demyelinating disease of central nervous system' SubClassOf 'demyelinating disease' http://purl.obolibrary.org/obo/MONDO_0019821 aneurysm or dilatation of ascending aorta 'aneurysm or dilatation of ascending aorta' SubClassOf 'congenital anomaly of the great arteries' 'aneurysm or dilatation of ascending aorta' SubClassOf 'congenital anomaly of the great arteries' http://purl.obolibrary.org/obo/MONDO_0019824 non-acquired pituitary hormone deficiency 'non-acquired pituitary hormone deficiency' SubClassOf 'hereditary endocrine growth disease' 'non-acquired pituitary hormone deficiency' SubClassOf 'pituitary deficiency' 'non-acquired pituitary hormone deficiency' SubClassOf 'hereditary endocrine growth disease' 'non-acquired pituitary hormone deficiency' SubClassOf 'pituitary deficiency' http://purl.obolibrary.org/obo/MONDO_0019820 univentricular cardiopathy 'univentricular cardiopathy' SubClassOf 'congenital heart malformation' 'univentricular cardiopathy' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020805 benign basal cell neoplasm 'benign basal cell neoplasm' SubClassOf 'basal cell neoplasm' 'benign basal cell neoplasm' SubClassOf 'basal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0020836 autism, susceptiblity to 'autism, susceptiblity to' SubClassOf 'predisposes towards' some 'autism' 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autism') 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism') 'autism, susceptiblity to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism' http://purl.obolibrary.org/obo/MONDO_0019838 adenohypophysitis 'adenohypophysitis' SubClassOf 'primary hypophysitis' 'adenohypophysitis' SubClassOf 'primary hypophysitis' http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency 'acquired pituitary hormone deficiency' SubClassOf 'pituitary deficiency' 'acquired pituitary hormone deficiency' SubClassOf 'pituitary deficiency' http://purl.obolibrary.org/obo/MONDO_0019835 primary hypophysitis 'primary hypophysitis' SubClassOf 'acquired pituitary hormone deficiency' 'primary hypophysitis' SubClassOf 'autoimmune disorder of endocrine system' 'primary hypophysitis' SubClassOf 'hypophysitis' 'primary hypophysitis' SubClassOf 'acquired pituitary hormone deficiency' 'primary hypophysitis' SubClassOf 'autoimmune disorder of endocrine system' 'primary hypophysitis' SubClassOf 'hypophysitis' http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020820 distal arthrogryposis type 2B1 'distal arthrogryposis type 2B1' SubClassOf 'Sheldon-hall syndrome' 'distal arthrogryposis type 2B1' SubClassOf 'autosomal dominant disease' 'distal arthrogryposis type 2B1' SubClassOf 'Sheldon-hall syndrome' 'distal arthrogryposis type 2B1' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019840 acropectororenal dysplasia 'acropectororenal dysplasia' SubClassOf 'syndromic breast hypoplasia/aplasia' 'acropectororenal dysplasia' SubClassOf 'syndromic breast hypoplasia/aplasia' http://purl.obolibrary.org/obo/MONDO_0020853 encephalitis/encephalopathy, mild, with reversible myelin vacuolization 'encephalitis/encephalopathy, mild, with reversible myelin vacuolization' SubClassOf 'Mendelian encephalopathy' 'encephalitis/encephalopathy, mild, with reversible myelin vacuolization' SubClassOf 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0020852 spermatogenic failure 31 'spermatogenic failure 31' SubClassOf 'azoospermia' 'spermatogenic failure 31' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure 'inherited primary ovarian failure' SubClassOf 'genetic disorder' 'inherited primary ovarian failure' SubClassOf 'hereditary endocrine growth disease' 'inherited primary ovarian failure' SubClassOf 'genetic disorder' 'inherited primary ovarian failure' SubClassOf 'hereditary endocrine growth disease' http://purl.obolibrary.org/obo/MONDO_0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia 'pulmonary alveolar proteinosis with hypogammaglobulinemia' SubClassOf 'genetic disorder' 'pulmonary alveolar proteinosis with hypogammaglobulinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020847 intellectual disability, autosomal dominant 58 'intellectual disability, autosomal dominant 58' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 58' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020846 intellectual disability, autosomal recessive 64 'intellectual disability, autosomal recessive 64' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 64' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020845 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' http://purl.obolibrary.org/obo/MONDO_0019864 tetrasomy 21 'tetrasomy 21' SubClassOf 'tetrasomy' 'tetrasomy 21' SubClassOf 'tetrasomy' http://purl.obolibrary.org/obo/MONDO_0005232 large cell carcinoma 'large cell carcinoma' SubClassOf 'carcinoma' 'large cell carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0019877 distal trisomy 2q 'distal trisomy 2q' SubClassOf 'partial duplication of the long arm of chromosome 2' 'distal trisomy 2q' SubClassOf 'partial duplication of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0019876 8p inverted duplication/deletion syndrome '8p inverted duplication/deletion syndrome' SubClassOf 'chromosome 8 disorder' '8p inverted duplication/deletion syndrome' SubClassOf 'chromosome 8 disorder' http://purl.obolibrary.org/obo/MONDO_0019879 distal trisomy 4q 'distal trisomy 4q' SubClassOf 'partial duplication of the long arm of chromosome 4' 'distal trisomy 4q' SubClassOf 'partial duplication of the long arm of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0019878 3q26 microduplication syndrome '3q26 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 3' '3q26 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0019873 4p16.3 microduplication syndrome '4p16.3 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 4' '4p16.3 microduplication syndrome' SubClassOf 'partial duplication of the short arm of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0019872 distal trisomy 3p 'distal trisomy 3p' SubClassOf 'partial duplication of the short arm of chromosome 3' 'distal trisomy 3p' SubClassOf 'partial duplication of the short arm of chromosome 3' http://purl.obolibrary.org/obo/MONDO_0019875 Beckwith-Wiedemann syndrome due to 11p15 microduplication 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'partial duplication of the short arm of chromosome 11' 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'Beckwith-Wiedemann syndrome' 'Beckwith-Wiedemann syndrome due to 11p15 microduplication' SubClassOf 'partial duplication of the short arm of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0019874 distal trisomy 7p 'distal trisomy 7p' SubClassOf 'partial duplication of the short arm of chromosome 7' 'distal trisomy 7p' SubClassOf 'partial duplication of the short arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia 'inherited dystonia' SubClassOf 'dystonic disorder' 'inherited dystonia' SubClassOf 'dystonic disorder' http://purl.obolibrary.org/obo/MONDO_0019871 distal trisomy 2p 'distal trisomy 2p' SubClassOf 'partial duplication of the short arm of chromosome 2' 'distal trisomy 2p' SubClassOf 'partial duplication of the short arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0019870 distal trisomy 1p36 'distal trisomy 1p36' SubClassOf 'partial duplication of the short arm of chromosome 1' 'distal trisomy 1p36' SubClassOf 'partial duplication of the short arm of chromosome 1' http://purl.obolibrary.org/obo/MONDO_0005247 bacterial urinary tract infection 'bacterial urinary tract infection' SubClassOf 'bacterial disease' 'bacterial urinary tract infection' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0019888 distal trisomy 20q 'distal trisomy 20q' SubClassOf 'partial trisomy of the long arm of chromosome 20' 'distal trisomy 20q' SubClassOf 'partial trisomy of the long arm of chromosome 20' http://purl.obolibrary.org/obo/MONDO_0019887 distal trisomy 16q 'distal trisomy 16q' SubClassOf 'partial trisomy of the long arm of chromosome 16' 'distal trisomy 16q' SubClassOf 'partial trisomy of the long arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0019889 distal trisomy 22q 'distal trisomy 22q' SubClassOf 'partial duplication of the long arm of chromosome 22' 'distal trisomy 22q' SubClassOf 'partial duplication of the long arm of chromosome 22' http://purl.obolibrary.org/obo/MONDO_0019884 distal trisomy 10q 'distal trisomy 10q' SubClassOf 'partial duplication of the long arm of chromosome 10' 'distal trisomy 10q' SubClassOf 'partial duplication of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0019883 distal trisomy 9q 'distal trisomy 9q' SubClassOf 'partial trisomy of the long arm of chromosome 9' 'distal trisomy 9q' SubClassOf 'partial trisomy of the long arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0019886 distal trisomy 13q 'distal trisomy 13q' SubClassOf 'chromosome 13q trisomy' 'distal trisomy 13q' SubClassOf 'chromosome 13q trisomy' http://purl.obolibrary.org/obo/MONDO_0019885 distal trisomy 11q 'distal trisomy 11q' SubClassOf 'chromosome 11q trisomy' 'distal trisomy 11q' SubClassOf 'chromosome 11q trisomy' http://purl.obolibrary.org/obo/MONDO_0019880 distal trisomy 5q 'distal trisomy 5q' SubClassOf 'partial trisomy of the long arm of chromosome 5' 'distal trisomy 5q' SubClassOf 'partial trisomy of the long arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0019882 distal trisomy 8q 'distal trisomy 8q' SubClassOf 'partial duplication of the long arm of chromosome 8' 'distal trisomy 8q' SubClassOf 'partial duplication of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0019881 distal trisomy 6q 'distal trisomy 6q' SubClassOf 'partial duplication of the long arm of chromosome 6' 'distal trisomy 6q' SubClassOf 'partial duplication of the long arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0019898 distal monosomy 14q 'distal monosomy 14q' SubClassOf 'partial deletion of the long arm of chromosome 14' 'distal monosomy 14q' SubClassOf 'partial deletion of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0019895 distal monosomy 4q 'distal monosomy 4q' SubClassOf 'partial deletion of the long arm of chromosome 4' 'distal monosomy 4q' SubClassOf 'partial deletion of the long arm of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0019897 distal monosomy 12q 'distal monosomy 12q' SubClassOf 'partial deletion of the long arm of chromosome 12' 'distal monosomy 12q' SubClassOf 'partial deletion of the long arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0019896 Kleefstra syndrome due to 9q34 microdeletion 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'partial monosomy of the long arm of chromosome 9' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'Kleefstra syndrome 1' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'partial monosomy of the long arm of chromosome 9' 'Kleefstra syndrome due to 9q34 microdeletion' SubClassOf 'Kleefstra syndrome 1' http://purl.obolibrary.org/obo/MONDO_0019890 non-distal trisomy 9q 'non-distal trisomy 9q' SubClassOf 'partial trisomy of the long arm of chromosome 9' 'non-distal trisomy 9q' SubClassOf 'partial trisomy of the long arm of chromosome 9' http://purl.obolibrary.org/obo/MONDO_0019893 distal monosomy 19p13.3 'distal monosomy 19p13.3' SubClassOf 'partial deletion of the short arm of chromosome 19' 'distal monosomy 19p13.3' SubClassOf 'partial deletion of the short arm of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0019892 distal monosomy 7p 'distal monosomy 7p' SubClassOf 'partial deletion of the short arm of chromosome 7' 'distal monosomy 7p' SubClassOf 'partial deletion of the short arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0044877 paraneoplastic cerebellar degeneration 'paraneoplastic cerebellar degeneration' SubClassOf 'paraneoplastic neurologic syndrome' 'paraneoplastic cerebellar degeneration' SubClassOf 'cerebellar degeneration' 'paraneoplastic cerebellar degeneration' SubClassOf 'paraneoplastic neurologic syndrome' 'paraneoplastic cerebellar degeneration' SubClassOf 'cerebellar degeneration' http://purl.obolibrary.org/obo/MONDO_0044878 adult germ cell tumor 'adult germ cell tumor' SubClassOf 'germ cell tumor' 'adult germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0005277 migraine disorder 'migraine disorder' SubClassOf 'hypnic headache' 'migraine disorder' SubClassOf 'neurovascular disorder' 'migraine disorder' SubClassOf 'hypnic headache' 'migraine disorder' SubClassOf 'neurovascular disorder' http://purl.obolibrary.org/obo/MONDO_0005271 allergic disease 'allergic disease' SubClassOf 'hypersensitivity reaction disease' 'allergic disease' SubClassOf 'hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0030258 pontocerebellar hypoplasia, type 14 'pontocerebellar hypoplasia, type 14' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia, type 14' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0005299 brain ischemia 'brain ischemia' SubClassOf 'cerebrovascular disorder' 'brain ischemia' SubClassOf 'ischemic disease' 'brain ischemia' SubClassOf 'cerebrovascular disorder' 'brain ischemia' SubClassOf 'ischemic disease' http://purl.obolibrary.org/obo/MONDO_0044884 tonsillar lymphoma 'tonsillar lymphoma' SubClassOf 'tonsil cancer' 'tonsillar lymphoma' SubClassOf 'tonsil cancer' http://purl.obolibrary.org/obo/MONDO_0044885 tonsillar lipoma 'tonsillar lipoma' SubClassOf 'benign neoplasm of tonsil' 'tonsillar lipoma' SubClassOf 'lipoma' 'tonsillar lipoma' SubClassOf 'benign neoplasm of tonsil' 'tonsillar lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0044881 hematopoietic and lymphoid cell neoplasm 'hematopoietic and lymphoid cell neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'hematopoietic and lymphoid cell neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/MONDO_0044887 central nervous system non-hodgkin lymphoma 'central nervous system non-hodgkin lymphoma' SubClassOf 'Central Nervous System Lymphoma' 'central nervous system non-hodgkin lymphoma' SubClassOf 'Central Nervous System Lymphoma' http://purl.obolibrary.org/obo/MONDO_0044889 high grade B-cell lymphoma 'high grade B-cell lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'high grade B-cell lymphoma' SubClassOf 'diffuse large B-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0030266 immunodeficiency 80 with or without congenital cardiomyopathy 'immunodeficiency 80 with or without congenital cardiomyopathy' SubClassOf 'immunodeficiency disease' 'immunodeficiency 80 with or without congenital cardiomyopathy' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030261 pontocerebellar hypoplasia, type 1F 'pontocerebellar hypoplasia, type 1F' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia, type 1F' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0030260 pontocerebellar hypoplasia, type 1E 'pontocerebellar hypoplasia, type 1E' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia, type 1E' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0030294 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 'megacystis-microcolon-intestinal hypoperistalsis syndrome 3' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' 'megacystis-microcolon-intestinal hypoperistalsis syndrome 3' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' http://purl.obolibrary.org/obo/MONDO_0030296 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 'megacystis-microcolon-intestinal hypoperistalsis syndrome 4' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' 'megacystis-microcolon-intestinal hypoperistalsis syndrome 4' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' http://www.ebi.ac.uk/efo/EFO_0001061 cervical carcinoma 'cervical carcinoma' SubClassOf 'cervical cancer' 'cervical carcinoma' SubClassOf 'cervical cancer' http://www.ebi.ac.uk/efo/EFO_0001060 celiac disease 'celiac disease' SubClassOf 'autoimmune disorder of gastrointestinal tract' 'celiac disease' SubClassOf 'autoimmune disorder of gastrointestinal tract' http://www.ebi.ac.uk/efo/EFO_0001064 Down syndrome 'Down syndrome' SubClassOf 'chromosome 21 disorder' 'Down syndrome' SubClassOf 'chromosome 21 disorder' http://www.ebi.ac.uk/efo/EFO_0001067 parasitic infection 'parasitic infection' SubClassOf 'infectious disease' 'parasitic infection' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0001066 experimental autoimmune encephalomyelitis 'experimental autoimmune encephalomyelitis' SubClassOf 'nervous system disorder, non-human animal' 'experimental autoimmune encephalomyelitis' SubClassOf 'nervous system disorder, non-human animal' http://www.ebi.ac.uk/efo/EFO_0001068 malaria 'malaria' SubClassOf 'protozoa infectious disease' 'malaria' SubClassOf 'vector-borne disease' 'malaria' SubClassOf 'protozoa infectious disease' 'malaria' SubClassOf 'vector-borne disease' http://www.ebi.ac.uk/efo/EFO_0001054 leprosy 'leprosy' SubClassOf 'primary bacterial infectious disease' 'leprosy' SubClassOf 'primary bacterial infectious disease' http://www.ebi.ac.uk/efo/EFO_0001056 tuberculoid leprosy 'tuberculoid leprosy' SubClassOf 'leprosy' 'tuberculoid leprosy' SubClassOf 'leprosy' http://www.ebi.ac.uk/efo/EFO_0001055 borderline leprosy 'borderline leprosy' SubClassOf 'leprosy' 'borderline leprosy' SubClassOf 'leprosy' http://www.ebi.ac.uk/efo/EFO_0001057 lepromatous leprosy 'lepromatous leprosy' SubClassOf 'leprosy' 'lepromatous leprosy' SubClassOf 'leprosy' http://www.ebi.ac.uk/efo/EFO_0001071 lung carcinoma 'lung carcinoma' SubClassOf 'carcinoma' 'lung carcinoma' SubClassOf 'lung cancer' 'lung carcinoma' SubClassOf 'carcinoma' 'lung carcinoma' SubClassOf 'lung cancer' http://www.ebi.ac.uk/efo/EFO_0001074 morbid obesity 'morbid obesity' SubClassOf 'obesity' 'morbid obesity' SubClassOf 'obesity' http://www.ebi.ac.uk/efo/EFO_0001073 obesity 'obesity' SubClassOf 'overnutrition' 'obesity' SubClassOf 'overnutrition' http://www.ebi.ac.uk/efo/EFO_0001076 Pseudomonas infection 'Pseudomonas infection' SubClassOf 'bacterial disease' 'Pseudomonas infection' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_0001075 ovarian carcinoma 'ovarian carcinoma' SubClassOf 'malignant epithelial tumor of ovary' 'ovarian carcinoma' SubClassOf 'malignant epithelial tumor of ovary' http://www.ebi.ac.uk/efo/EFO_0001078 Pseudomonas aeruginosa PA14 infection 'Pseudomonas aeruginosa PA14 infection' SubClassOf 'Pseudomonas aeruginosa infectious disease' 'Pseudomonas aeruginosa PA14 infection' SubClassOf 'Pseudomonas aeruginosa infectious disease' http://www.ebi.ac.uk/efo/EFO_0001077 Pseudomonas aeruginosa CF5 infection 'Pseudomonas aeruginosa CF5 infection' SubClassOf 'Pseudomonas aeruginosa infectious disease' 'Pseudomonas aeruginosa CF5 infection' SubClassOf 'Pseudomonas aeruginosa infectious disease' http://purl.obolibrary.org/obo/MONDO_0019707 primary osteolysis 'primary osteolysis' SubClassOf 'skeletal dysplasia' 'primary osteolysis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019701 chondrodysplasia punctata 'chondrodysplasia punctata' SubClassOf 'skeletal dysplasia' 'chondrodysplasia punctata' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019702 neonatal osteosclerotic dysplasia 'neonatal osteosclerotic dysplasia' SubClassOf 'skeletal dysplasia' 'neonatal osteosclerotic dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract 'congenital anomaly of kidney and urinary tract' SubClassOf 'developmental defect during embryogenesis' 'congenital anomaly of kidney and urinary tract' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome 'overgrowth syndrome' SubClassOf 'disorder of development or morphogenesis' 'overgrowth syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0020715 multiple system atrophy 1, susceptibility to 'multiple system atrophy 1, susceptibility to' SubClassOf 'predisposes towards' some 'multiple system atrophy' 'multiple system atrophy 1, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple system atrophy' http://purl.obolibrary.org/obo/MONDO_0019713 non-syndromic limb reduction defect 'non-syndromic limb reduction defect' SubClassOf 'skeletal dysplasia' 'non-syndromic limb reduction defect' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020718 congenital short bowel syndrome, autosomal recessive 'congenital short bowel syndrome, autosomal recessive' SubClassOf 'congenital short bowel syndrome' 'congenital short bowel syndrome, autosomal recessive' SubClassOf 'congenital short bowel syndrome' http://purl.obolibrary.org/obo/MONDO_0020705 neural tube defects, susceptibility to 'neural tube defects, susceptibility to' SubClassOf 'predisposes towards' some 'neural tube defect' 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neural tube defect') 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neural tube defect') 'neural tube defects, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0020701 brachydactyly type A1A 'brachydactyly type A1A' SubClassOf 'brachydactyly' 'brachydactyly type A1A' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0019725 pediatric systemic lupus erythematosus 'pediatric systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' 'pediatric systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0020707 central hearing loss 'central hearing loss' SubClassOf 'hearing loss' 'central hearing loss' SubClassOf 'hearing loss' http://purl.obolibrary.org/obo/MONDO_0020730 carpal tunnel syndrome 1 'carpal tunnel syndrome 1' SubClassOf 'carpal tunnel syndrome' 'carpal tunnel syndrome 1' SubClassOf 'carpal tunnel syndrome' http://purl.obolibrary.org/obo/MONDO_0044705 paranasal sinus squamous cell carcinoma 'paranasal sinus squamous cell carcinoma' SubClassOf 'paranasal sinus carcinoma' 'paranasal sinus squamous cell carcinoma' SubClassOf 'paranasal sinus carcinoma' http://purl.obolibrary.org/obo/MONDO_0019738 atypical hemolytic-uremic syndrome with H factor anomaly 'atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'atypical hemolytic-uremic syndrome' 'atypical hemolytic-uremic syndrome with H factor anomaly' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0020738 multiple benign circumferential skin creases on limbs 1 'multiple benign circumferential skin creases on limbs 1' SubClassOf 'multiple benign circumferential skin creases on limbs' 'multiple benign circumferential skin creases on limbs 1' SubClassOf 'multiple benign circumferential skin creases on limbs' http://purl.obolibrary.org/obo/MONDO_0019737 thrombotic microangiopathy 'thrombotic microangiopathy' SubClassOf 'blood coagulation disease' 'thrombotic microangiopathy' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies 'atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'atypical hemolytic-uremic syndrome' 'atypical hemolytic-uremic syndrome with anti-factor H antibodies' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0020735 ACTH-independent macronodular adrenal hyperplasia 1 'ACTH-independent macronodular adrenal hyperplasia 1' SubClassOf 'Cushing syndrome due to macronodular adrenal hyperplasia' 'ACTH-independent macronodular adrenal hyperplasia 1' SubClassOf 'Cushing syndrome due to macronodular adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'movement disorder' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'movement disorder' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0019733 AFib amyloidosis 'AFib amyloidosis' SubClassOf 'familial visceral amyloidosis' 'AFib amyloidosis' SubClassOf 'familial visceral amyloidosis' http://purl.obolibrary.org/obo/MONDO_0020733 proximal symphalangism 1A 'proximal symphalangism 1A' SubClassOf 'NOG-related symphalangism spectrum disorder' 'proximal symphalangism 1A' SubClassOf 'proximal symphalangism' 'proximal symphalangism 1A' SubClassOf 'NOG-related symphalangism spectrum disorder' 'proximal symphalangism 1A' SubClassOf 'proximal symphalangism' http://purl.obolibrary.org/obo/MONDO_0019736 dense deposit disease 'dense deposit disease' SubClassOf 'primary membranoproliferative glomerulonephritis' 'dense deposit disease' SubClassOf 'primary membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0019732 ALys amyloidosis 'ALys amyloidosis' SubClassOf 'familial visceral amyloidosis' 'ALys amyloidosis' SubClassOf 'familial visceral amyloidosis' http://purl.obolibrary.org/obo/MONDO_0019731 AApoAI amyloidosis 'AApoAI amyloidosis' SubClassOf 'familial visceral amyloidosis' 'AApoAI amyloidosis' SubClassOf 'familial visceral amyloidosis' http://purl.obolibrary.org/obo/MONDO_0044710 lip and oral cavity squamous cell carcinoma 'lip and oral cavity squamous cell carcinoma' SubClassOf 'otorhinolaryngologic disease' 'lip and oral cavity squamous cell carcinoma' EquivalentTo 'lip and oral cavity carcinoma' and 'head and neck squamous cell carcinoma' 'lip and oral cavity squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'lip and oral cavity squamous cell carcinoma' SubClassOf 'lip and oral cavity carcinoma' 'lip and oral cavity squamous cell carcinoma' SubClassOf 'otorhinolaryngologic disease' 'lip and oral cavity squamous cell carcinoma' EquivalentTo 'lip and oral cavity carcinoma' and 'head and neck squamous cell carcinoma' 'lip and oral cavity squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'lip and oral cavity squamous cell carcinoma' SubClassOf 'lip and oral cavity carcinoma' http://purl.obolibrary.org/obo/MONDO_0020727 combined oxidative phosphorylation deficiency 22 'combined oxidative phosphorylation deficiency 22' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' 'combined oxidative phosphorylation deficiency 22' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0020726 tubulointerstitial kidney disease, autosomal dominant, 2 'tubulointerstitial kidney disease, autosomal dominant, 2' SubClassOf 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'tubulointerstitial kidney disease, autosomal dominant, 2' SubClassOf 'familial juvenile hyperuricemic nephropathy' 'tubulointerstitial kidney disease, autosomal dominant, 2' SubClassOf 'autosomal dominant medullary cystic kidney disease with or without hyperuricemia' 'tubulointerstitial kidney disease, autosomal dominant, 2' SubClassOf 'familial juvenile hyperuricemic nephropathy' http://purl.obolibrary.org/obo/MONDO_0044715 metopic ridging-ptosis-facial dysmorphism syndrome 'metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'syndromic craniosynostosis' 'metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0044718 alkaline ceramidase 3 deficiency 'alkaline ceramidase 3 deficiency' SubClassOf 'leukodystrophy' 'alkaline ceramidase 3 deficiency' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0020724 cerebral cavernous malformation 1 'cerebral cavernous malformation 1' SubClassOf 'famililal cerebral cavernous malformations' 'cerebral cavernous malformation 1' SubClassOf 'famililal cerebral cavernous malformations' http://purl.obolibrary.org/obo/MONDO_0019745 cystinuria type A 'cystinuria type A' SubClassOf 'cystinuria' 'cystinuria type A' SubClassOf 'cystinuria' http://purl.obolibrary.org/obo/MONDO_0020723 vitamin D-dependent rickets, type 1A 'vitamin D-dependent rickets, type 1A' SubClassOf 'vitamin D-dependent rickets, type 1' 'vitamin D-dependent rickets, type 1A' SubClassOf 'abnormal mineralization disorder' 'vitamin D-dependent rickets, type 1A' SubClassOf 'abnormal mineralization disorder' 'vitamin D-dependent rickets, type 1A' SubClassOf 'vitamin D-dependent rickets, type 1' http://purl.obolibrary.org/obo/MONDO_0020722 nephrolithiasis susceptibility caused by SLC26A1 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf 'nephrolithiasis, calcium oxalate' 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf 'predisposes towards' some 'nephrolithiasis' 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'nephrolithiasis' 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf 'nephrolithiasis, calcium oxalate' http://purl.obolibrary.org/obo/MONDO_0020721 X-linked sideroblastic anemia 1 'X-linked sideroblastic anemia 1' SubClassOf 'X-linked disease' 'X-linked sideroblastic anemia 1' SubClassOf 'inborn disorder of porphyrin metabolism' 'X-linked sideroblastic anemia 1' SubClassOf 'inherited sideroblastic anemia' 'X-linked sideroblastic anemia 1' SubClassOf 'X-linked disease' 'X-linked sideroblastic anemia 1' SubClassOf 'inborn disorder of porphyrin metabolism' 'X-linked sideroblastic anemia 1' SubClassOf 'inherited sideroblastic anemia' http://purl.obolibrary.org/obo/MONDO_0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'inborn mitochondrial myopathy' 'mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0019746 cystinuria type B 'cystinuria type B' SubClassOf 'cystinuria' 'cystinuria type B' SubClassOf 'cystinuria' http://purl.obolibrary.org/obo/MONDO_0019740 acquired thrombotic thrombocytopenic purpura 'acquired thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' 'acquired thrombotic thrombocytopenic purpura' SubClassOf 'thrombotic thrombocytopenic purpura' http://purl.obolibrary.org/obo/MONDO_0019742 late-onset nephronophthisis 'late-onset nephronophthisis' SubClassOf 'inborn disorder of peptide metabolism' 'late-onset nephronophthisis' SubClassOf 'nephronophthisis' 'late-onset nephronophthisis' SubClassOf 'inborn disorder of peptide metabolism' 'late-onset nephronophthisis' SubClassOf 'nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0044719 erythema multiforme major 'erythema multiforme major' SubClassOf 'toxic dermatosis' 'erythema multiforme major' SubClassOf 'toxic dermatosis' http://purl.obolibrary.org/obo/MONDO_0020752 myoclonic epilepsy, juvenile, susceptibility to, 1 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf 'predisposes towards' some 'juvenile myoclonic epilepsy' 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'juvenile myoclonic epilepsy' 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0019759 epispadias 'epispadias' SubClassOf 'exstrophy-epispadias complex' 'epispadias' SubClassOf 'exstrophy-epispadias complex' http://purl.obolibrary.org/obo/MONDO_0020757 sporadic hemiplegic migraine 'sporadic hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' 'sporadic hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0019756 lobar holoprosencephaly 'lobar holoprosencephaly' SubClassOf 'holoprosencephaly' 'lobar holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0020756 migraine, familial hemiplegic, 1 'migraine, familial hemiplegic, 1' SubClassOf 'familial hemiplegic migraine' 'migraine, familial hemiplegic, 1' SubClassOf 'CACNA1A-related complex neurodevelopmental disorder' 'migraine, familial hemiplegic, 1' SubClassOf 'familial hemiplegic migraine' 'migraine, familial hemiplegic, 1' SubClassOf 'CACNA1A-related complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0020754 visceral myopathy 1 'visceral myopathy 1' SubClassOf 'intestinal disease' 'visceral myopathy 1' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0019757 alobar holoprosencephaly 'alobar holoprosencephaly' SubClassOf 'holoprosencephaly' 'alobar holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0019752 pediatric Castleman disease 'pediatric Castleman disease' SubClassOf 'Castleman disease' 'pediatric Castleman disease' SubClassOf 'Castleman disease' http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome 'autoinflammatory syndrome' SubClassOf 'disease has basis in dysfunction of' some 'canonical inflammasome complex' 'autoinflammatory syndrome' SubClassOf 'syndromic disease' 'autoinflammatory syndrome' SubClassOf 'rheumatic disease' 'autoinflammatory syndrome' SubClassOf 'disease has basis in dysfunction of' some 'canonical inflammasome complex' 'autoinflammatory syndrome' SubClassOf 'syndromic disease' 'autoinflammatory syndrome' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0005129 cataract 'cataract' SubClassOf 'lens disease' 'cataract' SubClassOf 'lens disease' http://purl.obolibrary.org/obo/MONDO_0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant 'pyridoxine-dependent epilepsy caused by ALDH7A1 mutant' SubClassOf 'pyridoxine-dependent epilepsy' 'pyridoxine-dependent epilepsy caused by ALDH7A1 mutant' SubClassOf 'pyridoxine-dependent epilepsy' http://purl.obolibrary.org/obo/MONDO_0020740 ectodermal dysplasia and immunodeficiency 1 'ectodermal dysplasia and immunodeficiency 1' SubClassOf 'ectodermal dysplasia and immune deficiency' 'ectodermal dysplasia and immunodeficiency 1' SubClassOf 'IKBKG-related immunodeficiency with or without ectodermal dysplasia' 'ectodermal dysplasia and immunodeficiency 1' SubClassOf 'ectodermal dysplasia and immune deficiency' 'ectodermal dysplasia and immunodeficiency 1' SubClassOf 'IKBKG-related immunodeficiency with or without ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B 'contractures, pterygia, and variable skeletal fusions syndrome 1B' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' 'contractures, pterygia, and variable skeletal fusions syndrome 1B' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' http://purl.obolibrary.org/obo/MONDO_0019767 hamel cerebro-palato-cardiac syndrome 'hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' 'hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' http://purl.obolibrary.org/obo/MONDO_0019766 X-linked intellectual disability, Porteous type 'X-linked intellectual disability, Porteous type' SubClassOf 'Renpenning syndrome' 'X-linked intellectual disability, Porteous type' SubClassOf 'Renpenning syndrome' http://purl.obolibrary.org/obo/MONDO_0019769 X-linked intellectual disability, Sutherland-Haan type 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'Renpenning syndrome' 'X-linked intellectual disability, Sutherland-Haan type' SubClassOf 'Renpenning syndrome' http://purl.obolibrary.org/obo/MONDO_0020743 mixed phenotype acute leukemia 'mixed phenotype acute leukemia' SubClassOf 'acute leukemia of ambiguous lineage' 'mixed phenotype acute leukemia' SubClassOf 'acute leukemia of ambiguous lineage' http://purl.obolibrary.org/obo/MONDO_0019768 X-linked intellectual disability, Golabi-Ito-hall type 'X-linked intellectual disability, Golabi-Ito-hall type' SubClassOf 'Renpenning syndrome' 'X-linked intellectual disability, Golabi-Ito-hall type' SubClassOf 'Renpenning syndrome' http://purl.obolibrary.org/obo/MONDO_0020774 Menke-Hennekam syndrome 'Menke-Hennekam syndrome' SubClassOf 'genetic disorder' 'Menke-Hennekam syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044743 major salivary gland cancer 'major salivary gland cancer' SubClassOf 'salivary gland cancer' 'major salivary gland cancer' SubClassOf 'neoplasm of major salivary gland' 'major salivary gland cancer' SubClassOf 'salivary gland cancer' 'major salivary gland cancer' SubClassOf 'neoplasm of major salivary gland' http://purl.obolibrary.org/obo/MONDO_0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' SubClassOf 'autosomal recessive cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' SubClassOf 'DNA repair deficiency' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' SubClassOf 'autosomal recessive cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0044742 autosomal recessive epidermolytic ichthyosis 'autosomal recessive epidermolytic ichthyosis' SubClassOf 'epidermolytic ichthyosis' 'autosomal recessive epidermolytic ichthyosis' SubClassOf 'epidermolytic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0019773 myelomeningocele 'myelomeningocele' SubClassOf 'spina bifida cystica' 'myelomeningocele' SubClassOf 'spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0019770 X-linked dominant intellectual disability-epilepsy syndrome 'X-linked dominant intellectual disability-epilepsy syndrome' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' 'X-linked dominant intellectual disability-epilepsy syndrome' SubClassOf 'X-linked intellectual disability-epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019772 blepharospasm-oromandibular dystonia syndrome 'blepharospasm-oromandibular dystonia syndrome' SubClassOf 'focal, segmental or multifocal dystonia' 'blepharospasm-oromandibular dystonia syndrome' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0019771 oromandibular dystonia 'oromandibular dystonia' SubClassOf 'focal, segmental or multifocal dystonia' 'oromandibular dystonia' SubClassOf 'focal dystonia' 'oromandibular dystonia' SubClassOf 'focal, segmental or multifocal dystonia' 'oromandibular dystonia' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0005148 type 2 diabetes mellitus 'type 2 diabetes mellitus' SubClassOf 'diabetes mellitus' 'type 2 diabetes mellitus' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0005147 type 1 diabetes mellitus 'type 1 diabetes mellitus' SubClassOf 'diabetes mellitus' 'type 1 diabetes mellitus' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension 'pulmonary hypertension' SubClassOf 'hypertension' 'pulmonary hypertension' SubClassOf 'disease has location' some 'pulmonary artery' 'pulmonary hypertension' SubClassOf 'hypertension' 'pulmonary hypertension' SubClassOf 'disease has location' some 'pulmonary artery' http://purl.obolibrary.org/obo/MONDO_0020761 Bowen disease of the skin 'Bowen disease of the skin' SubClassOf 'skin squamous cell carcinoma in situ' 'Bowen disease of the skin' SubClassOf 'skin squamous cell carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0020760 skin squamous cell carcinoma in situ 'skin squamous cell carcinoma in situ' SubClassOf 'skin carcinoma in situ' 'skin squamous cell carcinoma in situ' SubClassOf 'skin squamous cell carcinoma' 'skin squamous cell carcinoma in situ' SubClassOf 'skin carcinoma in situ' 'skin squamous cell carcinoma in situ' SubClassOf 'skin squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0044750 lassa virus infectious disease 'lassa virus infectious disease' EquivalentTo 'infectious disease' and ('disease has primary infectious agent' some 'Lassa virus') 'lassa virus infectious disease' SubClassOf 'Arenaviridae infectious disease' 'lassa virus infectious disease' SubClassOf 'disease has primary infectious agent' some 'Lassa virus' 'lassa virus infectious disease' SubClassOf 'Arenaviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0019784 12q14 microdeletion syndrome '12q14 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 12' '12q14 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia 'severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019780 anotia 'anotia' SubClassOf 'developmental defect during embryogenesis' 'anotia' SubClassOf 'otorhinolaryngologic disease' 'anotia' SubClassOf 'developmental defect during embryogenesis' 'anotia' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0030118 silver-russell syndrome 4 'silver-russell syndrome 4' SubClassOf 'Silver-Russell syndrome' 'silver-russell syndrome 4' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0020795 Silver-Russell syndrome 5 'Silver-Russell syndrome 5' SubClassOf 'Silver-Russell syndrome' 'Silver-Russell syndrome 5' SubClassOf 'Silver-Russell syndrome' http://purl.obolibrary.org/obo/MONDO_0020794 colorectal medullary carcinoma 'colorectal medullary carcinoma' SubClassOf 'colorectal adenocarcinoma' 'colorectal medullary carcinoma' SubClassOf 'colorectal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0044721 severe combined immunodeficiency due to LAT deficiency 'severe combined immunodeficiency due to LAT deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'severe combined immunodeficiency due to LAT deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0044720 cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 'cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' 'cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0044727 pancreatic carcinoma with mixed differentiation 'pancreatic carcinoma with mixed differentiation' SubClassOf 'Digestive System Mixed Adenoneuroendocrine Carcinoma' 'pancreatic carcinoma with mixed differentiation' SubClassOf 'pancreatic carcinoma' 'pancreatic carcinoma with mixed differentiation' EquivalentTo 'pancreatic carcinoma' and 'Digestive System Mixed Adenoneuroendocrine Carcinoma' 'pancreatic carcinoma with mixed differentiation' SubClassOf 'Digestive System Mixed Adenoneuroendocrine Carcinoma' 'pancreatic carcinoma with mixed differentiation' SubClassOf 'pancreatic carcinoma' 'pancreatic carcinoma with mixed differentiation' EquivalentTo 'pancreatic carcinoma' and 'Digestive System Mixed Adenoneuroendocrine Carcinoma' http://purl.obolibrary.org/obo/MONDO_0044726 psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 'psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'inherited neurodegenerative disorder' 'psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'disorder of zinc metabolism' 'psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'inherited renal tubular disease' 'psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'inherited neurodegenerative disorder' 'psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'disorder of zinc metabolism' 'psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0044723 3-methylglutaconic aciduria type 8 '3-methylglutaconic aciduria type 8' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 8' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0020798 hypoparathyroidism, familial isolated, 2 'hypoparathyroidism, familial isolated, 2' SubClassOf 'familial hypoparathyroidism' 'hypoparathyroidism, familial isolated, 2' SubClassOf 'familial hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0044725 combined immunodeficiency due to GINS1 deficiency 'combined immunodeficiency due to GINS1 deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to GINS1 deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0044724 3-methylglutaconic aciduria type 9 '3-methylglutaconic aciduria type 9' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 9' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0019796 acrocephalosyndactyly 'acrocephalosyndactyly' SubClassOf 'syndromic craniosynostosis' 'acrocephalosyndactyly' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0019797 acrodysostosis 'acrodysostosis' SubClassOf 'acromelic dysplasia' 'acrodysostosis' SubClassOf 'mandibulofacial dysostosis' 'acrodysostosis' SubClassOf 'dysostosis' 'acrodysostosis' SubClassOf 'acromelic dysplasia' 'acrodysostosis' SubClassOf 'mandibulofacial dysostosis' 'acrodysostosis' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0019792 autosomal dominant cerebellar ataxia type I 'autosomal dominant cerebellar ataxia type I' SubClassOf 'autosomal dominant cerebellar ataxia' 'autosomal dominant cerebellar ataxia type I' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0019791 recessive mitochondrial ataxia syndrome 'recessive mitochondrial ataxia syndrome' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'recessive mitochondrial ataxia syndrome' SubClassOf 'ataxia neuropathy spectrum' 'recessive mitochondrial ataxia syndrome' SubClassOf 'autosomal recessive metabolic cerebellar ataxia' 'recessive mitochondrial ataxia syndrome' SubClassOf 'ataxia neuropathy spectrum' http://purl.obolibrary.org/obo/MONDO_0019794 autosomal dominant cerebellar ataxia type IV 'autosomal dominant cerebellar ataxia type IV' SubClassOf 'autosomal dominant cerebellar ataxia' 'autosomal dominant cerebellar ataxia type IV' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0019793 autosomal dominant cerebellar ataxia type III 'autosomal dominant cerebellar ataxia type III' SubClassOf 'autosomal dominant cerebellar ataxia' 'autosomal dominant cerebellar ataxia type III' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 'galactosemia 4' SubClassOf 'disorder of galactose and fructose metabolism' 'galactosemia 4' SubClassOf 'galactosemia' 'galactosemia 4' SubClassOf 'disorder of galactose and fructose metabolism' 'galactosemia 4' SubClassOf 'galactosemia' http://purl.obolibrary.org/obo/MONDO_0020783 capillary malformation-arteriovenous malformation 1 'capillary malformation-arteriovenous malformation 1' SubClassOf 'capillary malformation-arteriovenous malformation syndrome' 'capillary malformation-arteriovenous malformation 1' SubClassOf 'capillary malformation-arteriovenous malformation syndrome' http://purl.obolibrary.org/obo/MONDO_0020782 chronic gingivitis 'chronic gingivitis' SubClassOf 'gingivitis' 'chronic gingivitis' SubClassOf 'gingivitis' http://purl.obolibrary.org/obo/MONDO_0044738 Gabriele de Vries syndrome 'Gabriele de Vries syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Gabriele de Vries syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020788 hypomagnesemia, seizures, and intellectual disability 2 'hypomagnesemia, seizures, and intellectual disability 2' SubClassOf 'hypomagnesemia, seizures, and intellectual disability' 'hypomagnesemia, seizures, and intellectual disability 2' SubClassOf 'hypomagnesemia, seizures, and intellectual disability' http://purl.obolibrary.org/obo/MONDO_0029144 extraoral halitosis due to methanethiol oxidase deficiency 'extraoral halitosis due to methanethiol oxidase deficiency' SubClassOf 'genetic disorder' 'extraoral halitosis due to methanethiol oxidase deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044785 desmoplastic melanoma 'desmoplastic melanoma' SubClassOf 'cutaneous melanoma' 'desmoplastic melanoma' SubClassOf 'Spindle Cell Melanoma' 'desmoplastic melanoma' SubClassOf 'cutaneous melanoma' 'desmoplastic melanoma' SubClassOf 'Spindle Cell Melanoma' http://purl.obolibrary.org/obo/MONDO_0029143 intellectual developmental disorder with hypertelorism and distinctive facies 'intellectual developmental disorder with hypertelorism and distinctive facies' SubClassOf 'genetic disorder' 'intellectual developmental disorder with hypertelorism and distinctive facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044784 myxoma 'myxoma' SubClassOf 'benign soft tissue neoplasm' 'myxoma' SubClassOf 'benign soft tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0044787 nasal cavity and paranasal sinus squamous cell carcinoma 'nasal cavity and paranasal sinus squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'nasal cavity and paranasal sinus squamous cell carcinoma' SubClassOf 'nasal cavity and paranasal sinus carcinoma' 'nasal cavity and paranasal sinus squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'nasal cavity and paranasal sinus squamous cell carcinoma' SubClassOf 'nasal cavity and paranasal sinus carcinoma' http://purl.obolibrary.org/obo/MONDO_0005178 osteoarthritis 'osteoarthritis' SubClassOf 'arthritis' 'osteoarthritis' SubClassOf 'arthritis' http://purl.obolibrary.org/obo/MONDO_0029145 orofacial cleft 8 'orofacial cleft 8' SubClassOf 'orofacial cleft' 'orofacial cleft 8' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0044782 esophageal ulcer 'esophageal ulcer' SubClassOf 'esophageal disease' 'esophageal ulcer' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease 'Parkinson disease' SubClassOf 'parkinsonian disorder' 'Parkinson disease' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0030134 oculopharyngodistal myopathy 2 'oculopharyngodistal myopathy 2' SubClassOf 'oculopharyngodistal myopathy' 'oculopharyngodistal myopathy 2' SubClassOf 'oculopharyngodistal myopathy' http://purl.obolibrary.org/obo/MONDO_0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 'muscular dystrophy, limb-girdle, autosomal dominant 4' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'muscular dystrophy, limb-girdle, autosomal dominant 4' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0044796 spindle cell nevus 'spindle cell nevus' SubClassOf 'spitz nevus' 'spindle cell nevus' SubClassOf 'spitz nevus' http://purl.obolibrary.org/obo/MONDO_0029131 peripheral neuropathy, autosomal recessive, with or without impaired intellectual development 'peripheral neuropathy, autosomal recessive, with or without impaired intellectual development' SubClassOf 'genetic disorder' 'peripheral neuropathy, autosomal recessive, with or without impaired intellectual development' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0005184 pancreatic ductal adenocarcinoma 'pancreatic ductal adenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' 'pancreatic ductal adenocarcinoma' SubClassOf 'tubular adenocarcinoma' 'pancreatic ductal adenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' 'pancreatic ductal adenocarcinoma' SubClassOf 'tubular adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0029137 hearing loss, autosomal dominant 74 'hearing loss, autosomal dominant 74' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 74' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0044792 large congenital melanocytic nevus 'large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'large congenital melanocytic nevus' SubClassOf 'hereditary skin disorder' 'large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'large congenital melanocytic nevus' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'LAMA2-related muscular dystrophy' 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'LAMA2-related muscular dystrophy' 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0029135 muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 'muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' 'muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8' SubClassOf 'muscular dystrophy-dystroglycanopathy, type C' http://purl.obolibrary.org/obo/MONDO_0044794 benign melanocytic skin nevus 'benign melanocytic skin nevus' SubClassOf 'melanocytic nevus' 'benign melanocytic skin nevus' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0044793 spitz nevus 'spitz nevus' SubClassOf 'benign melanocytic skin nevus' 'spitz nevus' SubClassOf 'benign melanocytic skin nevus' http://purl.obolibrary.org/obo/MONDO_0044765 steroid-resistant nephrotic syndrome 'steroid-resistant nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'steroid-resistant nephrotic syndrome' SubClassOf 'nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0044764 benign choroid plexus neoplasm 'benign choroid plexus neoplasm' SubClassOf 'Benign Brain Neoplasm' 'benign choroid plexus neoplasm' SubClassOf 'choroid plexus neoplasm' 'benign choroid plexus neoplasm' SubClassOf 'Benign Brain Neoplasm' 'benign choroid plexus neoplasm' SubClassOf 'choroid plexus neoplasm' http://purl.obolibrary.org/obo/MONDO_0044767 childhood adrenal gland pheochromocytoma 'childhood adrenal gland pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' 'childhood adrenal gland pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger spectrum disorders 'Zellweger spectrum disorders' SubClassOf 'developmental anomaly of metabolic origin' 'Zellweger spectrum disorders' SubClassOf 'peroxisome biogenesis disorder' 'Zellweger spectrum disorders' SubClassOf 'developmental anomaly of metabolic origin' 'Zellweger spectrum disorders' SubClassOf 'peroxisome biogenesis disorder' http://purl.obolibrary.org/obo/MONDO_0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome 'osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019600 xeroderma pigmentosum 'xeroderma pigmentosum' SubClassOf 'hereditary photodermatosis' 'xeroderma pigmentosum' SubClassOf 'DNA repair deficiency' 'xeroderma pigmentosum' SubClassOf 'hereditary photodermatosis' 'xeroderma pigmentosum' SubClassOf 'DNA repair deficiency' http://www.ebi.ac.uk/efo/EFO_1001952 endometrial adenosquamous carcinoma 'endometrial adenosquamous carcinoma' SubClassOf 'Endometrial Squamous Cell Carcinoma' 'endometrial adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'endometrial adenosquamous carcinoma' SubClassOf 'Endometrial Squamous Cell Carcinoma' 'endometrial adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_1001951 colorectal carcinoma 'colorectal carcinoma' SubClassOf 'colorectal cancer' 'colorectal carcinoma' SubClassOf 'Digestive System Carcinoma' 'colorectal carcinoma' SubClassOf 'colorectal cancer' 'colorectal carcinoma' SubClassOf 'Digestive System Carcinoma' http://www.ebi.ac.uk/efo/EFO_1001950 colon carcinoma 'colon carcinoma' SubClassOf 'malignant colon neoplasm' 'colon carcinoma' SubClassOf 'malignant colon neoplasm' http://www.ebi.ac.uk/efo/EFO_1001959 hilar cholangiocarcinoma 'hilar cholangiocarcinoma' SubClassOf 'disease has location' some 'hilar portion of hepatic duct' 'hilar cholangiocarcinoma' SubClassOf 'intrahepatic cholangiocarcinoma' 'hilar cholangiocarcinoma' SubClassOf 'disease has location' some 'hilar portion of hepatic duct' 'hilar cholangiocarcinoma' SubClassOf 'intrahepatic cholangiocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001956 gallbladder carcinoma 'gallbladder carcinoma' SubClassOf 'gallbladder cancer' 'gallbladder carcinoma' SubClassOf 'Digestive System Carcinoma' 'gallbladder carcinoma' SubClassOf 'gallbladder cancer' 'gallbladder carcinoma' SubClassOf 'Digestive System Carcinoma' http://purl.obolibrary.org/obo/MONDO_0019612 functioning gonadotropic adenoma 'functioning gonadotropic adenoma' SubClassOf 'functioning pituitary gland adenoma' 'functioning gonadotropic adenoma' SubClassOf 'functioning pituitary gland adenoma' http://purl.obolibrary.org/obo/MONDO_0019611 TSH-secreting pituitary adenoma 'TSH-secreting pituitary adenoma' SubClassOf 'TSH producing pituitary tumor' 'TSH-secreting pituitary adenoma' SubClassOf 'TSH producing pituitary tumor' http://www.ebi.ac.uk/efo/EFO_1001963 ovarian mucinous cystadenocarcinoma 'ovarian mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian mucinous adenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian cystadenocarcinoma' 'ovarian mucinous cystadenocarcinoma' SubClassOf 'ovarian mucinous adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001962 ovarian cystadenocarcinoma 'ovarian cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'ovarian cystadenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'ovarian cystadenocarcinoma' SubClassOf 'ovarian adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001961 intrahepatic cholangiocarcinoma 'intrahepatic cholangiocarcinoma' SubClassOf 'cholangiocarcinoma' 'intrahepatic cholangiocarcinoma' SubClassOf 'cholangiocarcinoma' http://purl.obolibrary.org/obo/MONDO_0019628 Rieger anomaly 'Rieger anomaly' SubClassOf 'iridogoniodysgenesis' 'Rieger anomaly' SubClassOf 'iridogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0020605 X-linked recessive disease 'X-linked recessive disease' SubClassOf 'X-linked disease' 'X-linked recessive disease' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0019627 isolated congenital alacrima 'isolated congenital alacrima' SubClassOf 'lacrimal apparatus disease' 'isolated congenital alacrima' SubClassOf 'lacrimal apparatus disease' http://purl.obolibrary.org/obo/MONDO_0020604 X-linked dominant disease 'X-linked dominant disease' SubClassOf 'X-linked disease' 'X-linked dominant disease' SubClassOf 'X-linked disease' http://www.ebi.ac.uk/efo/EFO_1001969 squamous cell breast carcinoma, acantholytic variant 'squamous cell breast carcinoma, acantholytic variant' SubClassOf 'squamous cell breast carcinoma' 'squamous cell breast carcinoma, acantholytic variant' SubClassOf 'squamous cell breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1001968 soft tissue sarcoma 'soft tissue sarcoma' SubClassOf 'sarcoma' 'soft tissue sarcoma' SubClassOf 'malignant soft tissue neoplasm' 'soft tissue sarcoma' SubClassOf 'sarcoma' 'soft tissue sarcoma' SubClassOf 'malignant soft tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0019629 sclerocornea 'sclerocornea' SubClassOf 'corneal disease' 'sclerocornea' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0020603 X-linked chondrodysplasia punctata 2 'X-linked chondrodysplasia punctata 2' SubClassOf 'X-linked chondrodysplasia punctata' 'X-linked chondrodysplasia punctata 2' SubClassOf 'hereditary skin disorder' 'X-linked chondrodysplasia punctata 2' SubClassOf 'X-linked chondrodysplasia punctata' 'X-linked chondrodysplasia punctata 2' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0019624 acquired angioedema 'acquired angioedema' SubClassOf 'angioedema' 'acquired angioedema' SubClassOf 'angioedema' http://www.ebi.ac.uk/efo/EFO_1001967 salivary gland squamous cell carcinoma 'salivary gland squamous cell carcinoma' SubClassOf 'malignant epithelial tumor of salivary glands' 'salivary gland squamous cell carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland squamous cell carcinoma' SubClassOf 'malignant epithelial tumor of salivary glands' 'salivary gland squamous cell carcinoma' SubClassOf 'salivary gland carcinoma' http://purl.obolibrary.org/obo/MONDO_0019623 hereditary angioedema 'hereditary angioedema' SubClassOf 'angioedema' 'hereditary angioedema' SubClassOf 'angioedema' http://purl.obolibrary.org/obo/MONDO_0020601 mosquito-borne viral encephalitis 'mosquito-borne viral encephalitis' SubClassOf 'viral encephalitis' 'mosquito-borne viral encephalitis' SubClassOf 'viral encephalitis' http://purl.obolibrary.org/obo/MONDO_0019626 isolated ankyloblepharon filiforme adnatum 'isolated ankyloblepharon filiforme adnatum' SubClassOf 'eye disease' 'isolated ankyloblepharon filiforme adnatum' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1001965 pharyngeal squamous cell carcinoma 'pharyngeal squamous cell carcinoma' SubClassOf 'carcinoma of pharynx' 'pharyngeal squamous cell carcinoma' SubClassOf 'pharynx cancer' 'pharyngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'pharyngeal squamous cell carcinoma' SubClassOf 'carcinoma of pharynx' 'pharyngeal squamous cell carcinoma' SubClassOf 'pharynx cancer' 'pharyngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection 'familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'vascular disease' 'familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_1001974 uterine leiomyosarcoma 'uterine leiomyosarcoma' SubClassOf 'uterine sarcoma' 'uterine leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'uterine leiomyosarcoma' SubClassOf 'uterine sarcoma' 'uterine leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0020630 epileptic encephalopathy, infantile or early childhood, 1 'epileptic encephalopathy, infantile or early childhood, 1' SubClassOf 'epileptic encephalopathy, infantile or early childhood' 'epileptic encephalopathy, infantile or early childhood, 1' SubClassOf 'epileptic encephalopathy, infantile or early childhood' http://www.ebi.ac.uk/efo/EFO_1001972 undifferentiated pleomorphic sarcoma 'undifferentiated pleomorphic sarcoma' SubClassOf 'bone sarcoma' 'undifferentiated pleomorphic sarcoma' SubClassOf 'soft tissue sarcoma' 'undifferentiated pleomorphic sarcoma' SubClassOf 'histiocytoma' 'undifferentiated pleomorphic sarcoma' SubClassOf 'bone sarcoma' 'undifferentiated pleomorphic sarcoma' SubClassOf 'soft tissue sarcoma' 'undifferentiated pleomorphic sarcoma' SubClassOf 'histiocytoma' http://www.ebi.ac.uk/efo/EFO_1001970 squamous papilloma 'squamous papilloma' SubClassOf 'papilloma' 'squamous papilloma' SubClassOf 'papilloma' http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia 'renal dysplasia' SubClassOf 'disorder of development or morphogenesis' 'renal dysplasia' SubClassOf 'kidney disease' 'renal dysplasia' SubClassOf 'disorder of development or morphogenesis' 'renal dysplasia' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0020638 superficial spreading melanoma 'superficial spreading melanoma' SubClassOf 'cutaneous melanoma' 'superficial spreading melanoma' SubClassOf 'cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0020635 anaplastic meningioma 'anaplastic meningioma' SubClassOf 'anaplastic cancer' 'anaplastic meningioma' SubClassOf 'grade III meningioma' 'anaplastic meningioma' SubClassOf 'malignant tumor of meninges' 'anaplastic meningioma' SubClassOf 'anaplastic cancer' 'anaplastic meningioma' SubClassOf 'grade III meningioma' 'anaplastic meningioma' SubClassOf 'malignant tumor of meninges' http://www.ebi.ac.uk/efo/EFO_1001978 3MC syndrome 1 '3MC syndrome 1' SubClassOf '3MC syndrome' '3MC syndrome 1' SubClassOf '3MC syndrome' http://purl.obolibrary.org/obo/MONDO_0020634 grade III meningioma 'grade III meningioma' SubClassOf 'meningioma' 'grade III meningioma' SubClassOf 'meningioma' http://www.ebi.ac.uk/efo/EFO_1001977 3MC syndrome 2 '3MC syndrome 2' SubClassOf '3MC syndrome' '3MC syndrome 2' SubClassOf '3MC syndrome' http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer 'anaplastic cancer' SubClassOf 'cancer' 'anaplastic cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia 'renal hypoplasia' SubClassOf 'kidney disease' 'renal hypoplasia' SubClassOf 'disorder of development or morphogenesis' 'renal hypoplasia' SubClassOf 'kidney disease' 'renal hypoplasia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019636 renal agenesis, unilateral 'renal agenesis, unilateral' SubClassOf 'renal agenesis' 'renal agenesis, unilateral' SubClassOf 'renal agenesis' http://www.ebi.ac.uk/efo/EFO_1001975 vulvar leiomyosarcoma 'vulvar leiomyosarcoma' SubClassOf 'vulva sarcoma' 'vulvar leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'vulvar leiomyosarcoma' SubClassOf 'vulva sarcoma' 'vulvar leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0019631 persistent hyperplastic primary vitreous 'persistent hyperplastic primary vitreous' SubClassOf 'vitreous disorder' 'persistent hyperplastic primary vitreous' SubClassOf 'congenital vitreoretinal dysplasia' 'persistent hyperplastic primary vitreous' SubClassOf 'vitreous disorder' 'persistent hyperplastic primary vitreous' SubClassOf 'congenital vitreoretinal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019630 congenital ectropion uveae 'congenital ectropion uveae' SubClassOf 'iridogoniodysgenesis' 'congenital ectropion uveae' SubClassOf 'iridogoniodysgenesis' http://www.ebi.ac.uk/efo/EFO_1001983 Autosomal recessive Charcot Marie Tooth disease type 2X 'Autosomal recessive Charcot Marie Tooth disease type 2X' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Autosomal recessive Charcot Marie Tooth disease type 2X' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.ebi.ac.uk/efo/EFO_1001982 Antisynthetase syndrome 'Antisynthetase syndrome' SubClassOf 'acquired idiopathic inflammatory myopathy' 'Antisynthetase syndrome' SubClassOf 'acquired idiopathic inflammatory myopathy' http://www.ebi.ac.uk/efo/EFO_1001981 Aminoacylase 1 deficiency 'Aminoacylase 1 deficiency' SubClassOf 'inborn disorder of amino acid metabolism' 'Aminoacylase 1 deficiency' SubClassOf 'inborn aminoacylase deficiency' 'Aminoacylase 1 deficiency' SubClassOf 'inborn disorder of amino acid metabolism' 'Aminoacylase 1 deficiency' SubClassOf 'inborn aminoacylase deficiency' http://www.ebi.ac.uk/efo/EFO_1001980 Alpha-methylacyl-CoA racemase deficiency 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' 'Alpha-methylacyl-CoA racemase deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' http://purl.obolibrary.org/obo/MONDO_0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 'microcephaly, growth restriction, and increased sister chromatid exchange 2' SubClassOf 'microcephaly, growth restriction and increased sister chromatid exchange' 'microcephaly, growth restriction, and increased sister chromatid exchange 2' SubClassOf 'microcephaly, growth restriction and increased sister chromatid exchange' http://www.ebi.ac.uk/efo/EFO_1001989 Monomelic amyotrophy 'Monomelic amyotrophy' SubClassOf 'acquired motor neuron disease' 'Monomelic amyotrophy' SubClassOf 'acquired motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0019645 renal dysplasia, bilateral 'renal dysplasia, bilateral' SubClassOf 'renal dysplasia' 'renal dysplasia, bilateral' SubClassOf 'renal dysplasia' http://www.ebi.ac.uk/efo/EFO_1001988 Juvenile Polymyositis 'Juvenile Polymyositis' SubClassOf 'juvenile idiopathic inflammatory myopathy' 'Juvenile Polymyositis' SubClassOf 'polymyositis' 'Juvenile Polymyositis' SubClassOf 'juvenile idiopathic inflammatory myopathy' 'Juvenile Polymyositis' SubClassOf 'polymyositis' http://purl.obolibrary.org/obo/MONDO_0019648 achondrogenesis 'achondrogenesis' SubClassOf 'spondylodysplastic dysplasia' 'achondrogenesis' SubClassOf 'osteochondrodysplasia' 'achondrogenesis' SubClassOf 'spondylodysplastic dysplasia' 'achondrogenesis' SubClassOf 'osteochondrodysplasia' http://www.ebi.ac.uk/efo/EFO_1001987 dropped head syndrome 'dropped head syndrome' SubClassOf 'acquired skeletal muscle disease' 'dropped head syndrome' SubClassOf 'acquired skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0019642 vitamin D-dependent rickets, type 2 'vitamin D-dependent rickets, type 2' SubClassOf 'hypocalcemic rickets' 'vitamin D-dependent rickets, type 2' SubClassOf 'vitamin D-dependent rickets' 'vitamin D-dependent rickets, type 2' SubClassOf 'hypocalcemic rickets' 'vitamin D-dependent rickets, type 2' SubClassOf 'vitamin D-dependent rickets' http://purl.obolibrary.org/obo/MONDO_0019644 renal dysplasia, unilateral 'renal dysplasia, unilateral' SubClassOf 'renal dysplasia' 'renal dysplasia, unilateral' SubClassOf 'renal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019643 transient pseudohypoaldosteronism 'transient pseudohypoaldosteronism' SubClassOf 'pseudohypoaldosteronism' 'transient pseudohypoaldosteronism' SubClassOf 'pseudohypoaldosteronism' http://purl.obolibrary.org/obo/MONDO_0019640 posterior urethral valve 'posterior urethral valve' SubClassOf 'fetal lower urinary tract obstruction' 'posterior urethral valve' SubClassOf 'fetal lower urinary tract obstruction' http://purl.obolibrary.org/obo/MONDO_0020629 microcephaly, growth restriction and increased sister chromatid exchange 'microcephaly, growth restriction and increased sister chromatid exchange' SubClassOf 'genetic disorder' 'microcephaly, growth restriction and increased sister chromatid exchange' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001996 Thalassemia 'Thalassemia' SubClassOf 'inherited hemoglobinopathy' 'Thalassemia' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0020653 vaginal adenocarcinoma 'vaginal adenocarcinoma' SubClassOf 'vaginal glandular neoplasm' 'vaginal adenocarcinoma' SubClassOf 'vaginal carcinoma' 'vaginal adenocarcinoma' SubClassOf 'adenocarcinoma' 'vaginal adenocarcinoma' SubClassOf 'vaginal glandular neoplasm' 'vaginal adenocarcinoma' SubClassOf 'vaginal carcinoma' 'vaginal adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0020651 mixed germ cell tumor of vulva 'mixed germ cell tumor of vulva' SubClassOf 'germ cell tumor of the vulva' 'mixed germ cell tumor of vulva' SubClassOf 'germ cell tumor of the vulva' http://purl.obolibrary.org/obo/MONDO_0044622 EMILIN-1-related connective tissue disease 'EMILIN-1-related connective tissue disease' SubClassOf 'hereditary peripheral neuropathy' 'EMILIN-1-related connective tissue disease' SubClassOf 'hereditary peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_1001993 scleroderma 'scleroderma' SubClassOf 'rheumatic disease' 'scleroderma' SubClassOf 'type II hypersensitivity reaction disease' 'scleroderma' SubClassOf 'rheumatic disease' 'scleroderma' SubClassOf 'type II hypersensitivity reaction disease' http://www.ebi.ac.uk/efo/EFO_1001992 Scapuloperoneal spinal muscular atrophy 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://www.ebi.ac.uk/efo/EFO_1001991 pneumonitis 'pneumonitis' SubClassOf 'lung disease' 'pneumonitis' SubClassOf 'lung disease' http://www.ebi.ac.uk/efo/EFO_1001990 ocular motility disease 'ocular motility disease' SubClassOf 'cranial nerve neuropathy' 'ocular motility disease' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0020658 infiltrating ureter transitional cell carcinoma 'infiltrating ureter transitional cell carcinoma' SubClassOf 'ureter transitional cell carcinoma' 'infiltrating ureter transitional cell carcinoma' SubClassOf 'ureter transitional cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0020657 human papillomavirus-related squamous cell carcinoma 'human papillomavirus-related squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'human papillomavirus-related squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0020656 human papillomavirus-related penile squamous cell carcinoma 'human papillomavirus-related penile squamous cell carcinoma' SubClassOf 'human papillomavirus-related squamous cell carcinoma' 'human papillomavirus-related penile squamous cell carcinoma' SubClassOf 'squamous cell carcinoma of penis' 'human papillomavirus-related penile squamous cell carcinoma' SubClassOf 'human papillomavirus-related squamous cell carcinoma' 'human papillomavirus-related penile squamous cell carcinoma' SubClassOf 'squamous cell carcinoma of penis' http://purl.obolibrary.org/obo/MONDO_0019656 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 'sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'sporadic idiopathic steroid-resistant nephrotic syndrome' 'sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'sporadic idiopathic steroid-resistant nephrotic syndrome' http://www.ebi.ac.uk/efo/EFO_1001999 systemic juvenile idiopathic arthritis 'systemic juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'systemic juvenile idiopathic arthritis' SubClassOf 'autoinflammatory syndrome' 'systemic juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'systemic juvenile idiopathic arthritis' SubClassOf 'autoinflammatory syndrome' http://www.ebi.ac.uk/efo/EFO_1001998 complex regional pain syndrome 'complex regional pain syndrome' SubClassOf 'chronic pain syndrome' 'complex regional pain syndrome' SubClassOf 'chronic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0019659 Pfeiffer syndrome type 1 'Pfeiffer syndrome type 1' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 1' SubClassOf 'Pfeiffer syndrome' http://purl.obolibrary.org/obo/MONDO_0044626 female infertility due to oocyte meiotic arrest 'female infertility due to oocyte meiotic arrest' SubClassOf 'female infertility' 'female infertility due to oocyte meiotic arrest' SubClassOf 'female infertility' http://purl.obolibrary.org/obo/MONDO_0020654 renal pelvis/ureter urothelial carcinoma 'renal pelvis/ureter urothelial carcinoma' SubClassOf 'urothelial carcinoma' 'renal pelvis/ureter urothelial carcinoma' SubClassOf 'urothelial carcinoma' http://purl.obolibrary.org/obo/MONDO_0019653 familial idiopathic steroid-resistant nephrotic syndrome with minimal changes 'familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' 'familial idiopathic steroid-resistant nephrotic syndrome with minimal changes' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0019652 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 'familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' 'familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0019655 sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis 'sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'sporadic idiopathic steroid-resistant nephrotic syndrome' 'sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis' SubClassOf 'sporadic idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0019654 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 'familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' 'familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0020640 autoimmune encephalitis 'autoimmune encephalitis' SubClassOf 'encephalitis' 'autoimmune encephalitis' SubClassOf 'encephalitis' http://purl.obolibrary.org/obo/MONDO_0020647 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome 'microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome' SubClassOf 'genetic disorder' 'microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020646 ocular adnexal lymphoma 'ocular adnexal lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'ocular adnexal lymphoma' SubClassOf 'non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0044635 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome 'DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' 'DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0019667 spondyloepiphyseal dysplasia tarda 'spondyloepiphyseal dysplasia tarda' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia tarda' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'syndromic disease' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'genetic disorder' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'syndromic disease' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020644 lung non-Hodgkin lymphoma 'lung non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'lung non-Hodgkin lymphoma' SubClassOf 'lung lymphoma' 'lung non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'lung non-Hodgkin lymphoma' SubClassOf 'lung lymphoma' http://purl.obolibrary.org/obo/MONDO_0044637 infantile-onset generalized dyskinesia with orofacial involvement 'infantile-onset generalized dyskinesia with orofacial involvement' SubClassOf 'focal, segmental or multifocal dystonia' 'infantile-onset generalized dyskinesia with orofacial involvement' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0019669 hypochondrogenesis 'hypochondrogenesis' SubClassOf 'type 2 collagenopathy' 'hypochondrogenesis' SubClassOf 'achondrogenesis' 'hypochondrogenesis' SubClassOf 'type 2 collagenopathy' 'hypochondrogenesis' SubClassOf 'achondrogenesis' http://purl.obolibrary.org/obo/MONDO_0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'mineral metabolism disease' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'mineral metabolism disease' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019665 monostotic fibrous dysplasia 'monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://purl.obolibrary.org/obo/MONDO_0019660 Pfeiffer syndrome type 2 'Pfeiffer syndrome type 2' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 2' SubClassOf 'Pfeiffer syndrome' http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type 'short rib-polydactyly syndrome, Majewski type' SubClassOf 'short rib-polydactyly syndrome' 'short rib-polydactyly syndrome, Majewski type' SubClassOf 'short rib-polydactyly syndrome' http://purl.obolibrary.org/obo/MONDO_0019661 Pfeiffer syndrome type 3 'Pfeiffer syndrome type 3' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 3' SubClassOf 'Pfeiffer syndrome' http://purl.obolibrary.org/obo/MONDO_0019680 genochondromatosis type 2 'genochondromatosis type 2' SubClassOf 'genochondromatosis' 'genochondromatosis type 2' SubClassOf 'genochondromatosis' http://purl.obolibrary.org/obo/MONDO_0020675 ischemic bowel disorder 'ischemic bowel disorder' SubClassOf 'ischemic disease' 'ischemic bowel disorder' SubClassOf 'ischemic disease' http://purl.obolibrary.org/obo/MONDO_0020673 arterial occlusion 'arterial occlusion' SubClassOf 'arterial disorder' 'arterial occlusion' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0019679 brachydactyly type A7 'brachydactyly type A7' SubClassOf 'brachydactyly' 'brachydactyly type A7' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0020679 conductive hearing loss disorder 'conductive hearing loss disorder' SubClassOf 'hearing loss' 'conductive hearing loss disorder' SubClassOf 'hearing loss' http://purl.obolibrary.org/obo/MONDO_0019678 brachydactyly type A5 'brachydactyly type A5' SubClassOf 'brachydactyly' 'brachydactyly type A5' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0019675 spondyloepimetaphyseal dysplasia with joint laxity 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019674 postaxial polydactyly type B 'postaxial polydactyly type B' SubClassOf 'postaxial polydactyly' 'postaxial polydactyly type B' SubClassOf 'postaxial polydactyly' http://purl.obolibrary.org/obo/MONDO_0019677 brachydactyly type E 'brachydactyly type E' SubClassOf 'brachydactyly' 'brachydactyly type E' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0019676 brachydactyly type B 'brachydactyly type B' SubClassOf 'brachydactyly' 'brachydactyly type B' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0019671 radial hemimelia 'radial hemimelia' SubClassOf 'hemimelia' 'radial hemimelia' SubClassOf 'hemimelia' http://purl.obolibrary.org/obo/MONDO_0019670 ulnar hemimelia 'ulnar hemimelia' SubClassOf 'hemimelia' 'ulnar hemimelia' SubClassOf 'hemimelia' http://purl.obolibrary.org/obo/MONDO_0019673 postaxial polydactyly type A 'postaxial polydactyly type A' SubClassOf 'postaxial polydactyly' 'postaxial polydactyly type A' SubClassOf 'postaxial polydactyly' http://purl.obolibrary.org/obo/MONDO_0019672 fibular hemimelia 'fibular hemimelia' SubClassOf 'hemimelia' 'fibular hemimelia' SubClassOf 'hemimelia' http://purl.obolibrary.org/obo/MONDO_0019691 short rib dysplasia 'short rib dysplasia' SubClassOf 'skeletal dysplasia' 'short rib dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019690 filamin-related bone disorder 'filamin-related bone disorder' SubClassOf 'skeletal dysplasia' 'filamin-related bone disorder' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020663 malignant spindle cell neoplasm 'malignant spindle cell neoplasm' SubClassOf 'spindle cell tumor' 'malignant spindle cell neoplasm' SubClassOf 'spindle cell tumor' http://purl.obolibrary.org/obo/MONDO_0005041 glaucoma 'glaucoma' SubClassOf 'eye disease' 'glaucoma' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0020660 osteoblastic osteosarcoma 'osteoblastic osteosarcoma' SubClassOf 'conventional osteosarcoma' 'osteoblastic osteosarcoma' SubClassOf 'conventional osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0020669 paranasal sinus cancer 'paranasal sinus cancer' SubClassOf 'paranasal sinus neoplasm' 'paranasal sinus cancer' SubClassOf 'paranasal sinus neoplasm' http://purl.obolibrary.org/obo/MONDO_0019685 FGFR3-related chondrodysplasia 'FGFR3-related chondrodysplasia' SubClassOf 'skeletal dysplasia' 'FGFR3-related chondrodysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019682 congenital sialidosis type 2 'congenital sialidosis type 2' SubClassOf 'sialidosis type 2' 'congenital sialidosis type 2' SubClassOf 'sialidosis type 2' http://purl.obolibrary.org/obo/MONDO_0019681 juvenile sialidosis type 2 'juvenile sialidosis type 2' SubClassOf 'sialidosis type 2' 'juvenile sialidosis type 2' SubClassOf 'sialidosis type 2' http://purl.obolibrary.org/obo/MONDO_0030019 anauxetic dysplasia 3 'anauxetic dysplasia 3' SubClassOf 'anauxetic dysplasia' 'anauxetic dysplasia 3' SubClassOf 'anauxetic dysplasia' http://purl.obolibrary.org/obo/MONDO_0030015 bone marrow failure syndrome 6 'bone marrow failure syndrome 6' SubClassOf 'bone marrow failure syndrome' 'bone marrow failure syndrome 6' SubClassOf 'bone marrow failure syndrome' http://purl.obolibrary.org/obo/MONDO_0030017 combined oxidative phosphorylation deficiency 43 'combined oxidative phosphorylation deficiency 43' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 43' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0020693 glycogen storage disease due to liver phosphorylase kinase deficiency 'glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0044660 menstrual cycle-dependent periodic fever 'menstrual cycle-dependent periodic fever' SubClassOf 'genetic disorder' 'menstrual cycle-dependent periodic fever' SubClassOf 'female reproductive system disease' 'menstrual cycle-dependent periodic fever' SubClassOf 'genetic disorder' 'menstrual cycle-dependent periodic fever' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0005053 ischemic disease 'ischemic disease' SubClassOf 'vascular disease' 'ischemic disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0020690 adult glioblastoma 'adult glioblastoma' SubClassOf 'glioblastoma multiforme' 'adult glioblastoma' SubClassOf 'adult infiltrating astrocytic neoplasm' 'adult glioblastoma' SubClassOf 'glioblastoma multiforme' 'adult glioblastoma' SubClassOf 'adult infiltrating astrocytic neoplasm' http://purl.obolibrary.org/obo/MONDO_0019696 acromesomelic dysplasia 'acromesomelic dysplasia' SubClassOf 'skeletal dysplasia' 'acromesomelic dysplasia' SubClassOf 'osteochondrodysplasia' 'acromesomelic dysplasia' SubClassOf 'skeletal dysplasia' 'acromesomelic dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0019698 bent bone dysplasia 'bent bone dysplasia' SubClassOf 'skeletal dysplasia' 'bent bone dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0030013 immunodeficiency 66 'immunodeficiency 66' SubClassOf 'immunodeficiency disease' 'immunodeficiency 66' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0019695 acromelic dysplasia 'acromelic dysplasia' SubClassOf 'skeletal dysplasia' 'acromelic dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019694 spondylodysplastic dysplasia 'spondylodysplastic dysplasia' SubClassOf 'skeletal dysplasia' 'spondylodysplastic dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0030008 combined oxidative phosphorylation deficiency 42 'combined oxidative phosphorylation deficiency 42' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 42' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030004 autism, susceptibility to, 20 'autism, susceptibility to, 20' SubClassOf 'autism, susceptiblity to' 'autism, susceptibility to, 20' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0030007 combined oxidative phosphorylation deficiency 41 'combined oxidative phosphorylation deficiency 41' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 41' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030006 combined oxidative phosphorylation deficiency 40 'combined oxidative phosphorylation deficiency 40' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 40' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0044675 LRP5-related primary osteoporosis 'LRP5-related primary osteoporosis' SubClassOf 'skeletal dysplasia' 'LRP5-related primary osteoporosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020680 acute bronchiolitis 'acute bronchiolitis' SubClassOf 'bronchiolitis' 'acute bronchiolitis' SubClassOf 'bronchiolitis' http://purl.obolibrary.org/obo/MONDO_0020687 supratentorial ependymal tumor 'supratentorial ependymal tumor' SubClassOf 'ependymal tumor of brain' 'supratentorial ependymal tumor' SubClassOf 'ependymal tumor of brain' http://purl.obolibrary.org/obo/MONDO_0030038 glaucoma, primary closed-angle 'glaucoma, primary closed-angle' SubClassOf 'genetic disorder' 'glaucoma, primary closed-angle' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'disorder of GPI anchor biosynthesis' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'disorder of GPI anchor biosynthesis' http://purl.obolibrary.org/obo/MONDO_0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 'early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'Mendelian encephalopathy' 'early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'inherited neurodegenerative disorder' 'early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'Mendelian encephalopathy' 'early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0044645 familial monosomy 7 syndrome 'familial monosomy 7 syndrome' SubClassOf 'myelodysplastic syndrome' 'familial monosomy 7 syndrome' SubClassOf 'genetic disorder' 'familial monosomy 7 syndrome' SubClassOf 'myelodysplastic syndrome' 'familial monosomy 7 syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030034 epilepsy, progressive myoclonic, 11 'epilepsy, progressive myoclonic, 11' SubClassOf 'progressive myoclonus epilepsy' 'epilepsy, progressive myoclonic, 11' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0030033 seizures, early-onset, with neurodegeneration and brain calcifications 'seizures, early-onset, with neurodegeneration and brain calcifications' SubClassOf 'genetic disorder' 'seizures, early-onset, with neurodegeneration and brain calcifications' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030036 leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome 'leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome' SubClassOf 'genetic disorder' 'leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030035 leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome 'leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome' SubClassOf 'genetic disorder' 'leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030030 Nizon-Isidor syndrome 'Nizon-Isidor syndrome' SubClassOf 'genetic disorder' 'Nizon-Isidor syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030031 lissencephaly 10 'lissencephaly 10' SubClassOf 'lissencephaly spectrum disorders' 'lissencephaly 10' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0030027 tremor, hereditary essential, 6 'tremor, hereditary essential, 6' SubClassOf 'essential tremor' 'tremor, hereditary essential, 6' SubClassOf 'essential tremor' http://purl.obolibrary.org/obo/MONDO_0030029 skeletal dysplasia, mild, with joint laxity and advanced bone age 'skeletal dysplasia, mild, with joint laxity and advanced bone age' SubClassOf 'genetic disorder' 'skeletal dysplasia, mild, with joint laxity and advanced bone age' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030028 neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline 'neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline' SubClassOf 'genetic disorder' 'neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0005094 hemangiopericytoma 'hemangiopericytoma' SubClassOf 'Hemangiopericytic Neoplasm' 'hemangiopericytoma' SubClassOf 'Hemangiopericytic Neoplasm' http://www.ebi.ac.uk/efo/EFO_1001903 nosophobia 'nosophobia' SubClassOf 'specific phobia' 'nosophobia' SubClassOf 'specific phobia' http://www.ebi.ac.uk/efo/EFO_1001902 neuromuscular disease 'neuromuscular disease' SubClassOf 'nervous system disease' 'neuromuscular disease' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001901 neuroendocrine neoplasm 'neuroendocrine neoplasm' SubClassOf 'endocrine neoplasm' 'neuroendocrine neoplasm' SubClassOf 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 'MME-related autosomal dominant Charcot Marie Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'MME-related autosomal dominant Charcot Marie Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0044656 epidermolytic nevus 'epidermolytic nevus' SubClassOf 'keratinopathic ichthyosis' 'epidermolytic nevus' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0005090 schizophrenia 'schizophrenia' SubClassOf 'psychosis' 'schizophrenia' SubClassOf 'psychosis' http://www.ebi.ac.uk/efo/EFO_1001908 phobic disorder 'phobic disorder' SubClassOf 'anxiety disorder' 'phobic disorder' SubClassOf 'anxiety disorder' http://purl.obolibrary.org/obo/MONDO_0030020 combined oxidative phosphorylation deficiency 44 'combined oxidative phosphorylation deficiency 44' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 44' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030059 developmental and epileptic encephalopathy, 87 'developmental and epileptic encephalopathy, 87' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 87' SubClassOf 'developmental and epileptic encephalopathy' http://www.ebi.ac.uk/efo/EFO_1001916 separation anxiety disorder 'separation anxiety disorder' SubClassOf 'anxiety disorder' 'separation anxiety disorder' SubClassOf 'anxiety disorder' http://purl.obolibrary.org/obo/MONDO_0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 'neuronopathy, distal hereditary motor, autosomal recessive 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0030058 hearing loss, autosomal dominant 77 'hearing loss, autosomal dominant 77' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 77' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0030057 neurodevelopmental, jaw, eye, and digital syndrome 'neurodevelopmental, jaw, eye, and digital syndrome' SubClassOf 'genetic disorder' 'neurodevelopmental, jaw, eye, and digital syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030051 intellectual developmental disorder with autistic features and language delay, with or without seizures 'intellectual developmental disorder with autistic features and language delay, with or without seizures' SubClassOf 'genetic disorder' 'intellectual developmental disorder with autistic features and language delay, with or without seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030054 developmental and epileptic encephalopathy, 86 'developmental and epileptic encephalopathy, 86' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 86' SubClassOf 'developmental and epileptic encephalopathy' http://www.ebi.ac.uk/efo/EFO_1001918 specific phobia 'specific phobia' SubClassOf 'phobic disorder' 'specific phobia' SubClassOf 'phobic disorder' http://www.ebi.ac.uk/efo/EFO_1001917 social anxiety disorder 'social anxiety disorder' SubClassOf 'phobic disorder' 'social anxiety disorder' SubClassOf 'phobic disorder' http://purl.obolibrary.org/obo/MONDO_0030049 46,xx sex reversal 5 '46,xx sex reversal 5' SubClassOf 'genetic disorder' '46,xx sex reversal 5' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030048 harderoporphyria 'harderoporphyria' SubClassOf 'CPOX-related hereditary coproporphyria' 'harderoporphyria' SubClassOf 'CPOX-related hereditary coproporphyria' http://www.ebi.ac.uk/efo/EFO_1001926 pathological gambling 'pathological gambling' SubClassOf 'impulse control disorder' 'pathological gambling' SubClassOf 'genetic disorder' 'pathological gambling' SubClassOf 'impulse control disorder' 'pathological gambling' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030045 Liberfarb syndrome 'Liberfarb syndrome' SubClassOf 'genetic disorder' 'Liberfarb syndrome' SubClassOf 'syndromic disease' 'Liberfarb syndrome' SubClassOf 'genetic disorder' 'Liberfarb syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0030044 pseudo-TORCH syndrome 3 'pseudo-TORCH syndrome 3' SubClassOf 'pseudo-TORCH syndrome' 'pseudo-TORCH syndrome 3' SubClassOf 'pseudo-TORCH syndrome' http://purl.obolibrary.org/obo/MONDO_0030047 microcephaly, developmental delay, and brittle hair syndrome 'microcephaly, developmental delay, and brittle hair syndrome' SubClassOf 'genetic disorder' 'microcephaly, developmental delay, and brittle hair syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001929 selective IgA deficiency disease 'selective IgA deficiency disease' SubClassOf 'dysgammaglobulinemia' 'selective IgA deficiency disease' SubClassOf 'dysgammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0030043 congenital disorder of glycosylation, type iit 'congenital disorder of glycosylation, type iit' SubClassOf 'congenital disorder of glycosylation type II' 'congenital disorder of glycosylation, type iit' SubClassOf 'congenital disorder of glycosylation type II' http://www.ebi.ac.uk/efo/EFO_1001928 small intestine neuroendocrine tumor 'small intestine neuroendocrine tumor' SubClassOf 'intestinal neuroendocrine neoplasm' 'small intestine neuroendocrine tumor' SubClassOf 'small intestine neoplasm' 'small intestine neuroendocrine tumor' SubClassOf 'intestinal neuroendocrine neoplasm' 'small intestine neuroendocrine tumor' SubClassOf 'small intestine neoplasm' http://purl.obolibrary.org/obo/MONDO_0030042 proteinuria, chronic benign 'proteinuria, chronic benign' SubClassOf 'genetic disorder' 'proteinuria, chronic benign' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044685 autoimmune/inflammatory optic neuropathy 'autoimmune/inflammatory optic neuropathy' SubClassOf 'eye disease' 'autoimmune/inflammatory optic neuropathy' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_1001938 B-cell non-Hodgkins lymphoma 'B-cell non-Hodgkins lymphoma' SubClassOf 'B-cell neoplasm' 'B-cell non-Hodgkins lymphoma' EquivalentTo 'B-cell neoplasm' and 'non-Hodgkins lymphoma' 'B-cell non-Hodgkins lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'B-cell non-Hodgkins lymphoma' SubClassOf 'B-cell neoplasm' 'B-cell non-Hodgkins lymphoma' EquivalentTo 'B-cell neoplasm' and 'non-Hodgkins lymphoma' 'B-cell non-Hodgkins lymphoma' SubClassOf 'non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0030070 heterotaxy, visceral, 9, autosomal, with male infertility 'heterotaxy, visceral, 9, autosomal, with male infertility' SubClassOf 'visceral heterotaxy' 'heterotaxy, visceral, 9, autosomal, with male infertility' SubClassOf 'visceral heterotaxy' http://www.ebi.ac.uk/efo/EFO_1001937 amelanotic melanoma 'amelanotic melanoma' SubClassOf 'melanoma' 'amelanotic melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/MONDO_0030072 developmental and epileptic encephalopathy, 88 'developmental and epileptic encephalopathy, 88' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 88' SubClassOf 'developmental and epileptic encephalopathy' http://www.ebi.ac.uk/efo/EFO_1001936 adult T acute lymphoblastic leukemia 'adult T acute lymphoblastic leukemia' SubClassOf 'adult acute lymphoblastic leukemia' 'adult T acute lymphoblastic leukemia' SubClassOf 'T-cell leukemia' 'adult T acute lymphoblastic leukemia' SubClassOf 'T-cell leukemia' 'adult T acute lymphoblastic leukemia' SubClassOf 'adult acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0030071 retinitis pigmentosa 89 'retinitis pigmentosa 89' SubClassOf 'genetic disorder' 'retinitis pigmentosa 89' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001935 adult B acute lymphoblastic leukemia 'adult B acute lymphoblastic leukemia' SubClassOf 'adult acute lymphoblastic leukemia' 'adult B acute lymphoblastic leukemia' SubClassOf 'precursor B-cell acute lymphoblastic leukemia' 'adult B acute lymphoblastic leukemia' SubClassOf 'adult acute lymphoblastic leukemia' 'adult B acute lymphoblastic leukemia' SubClassOf 'precursor B-cell acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1001933 adult acute monocytic leukemia 'adult acute monocytic leukemia' SubClassOf 'acute monocytic leukemia' 'adult acute monocytic leukemia' SubClassOf 'acute monocytic leukemia' http://www.ebi.ac.uk/efo/EFO_1001931 oropharynx cancer 'oropharynx cancer' SubClassOf 'neoplasm of oropharynx' 'oropharynx cancer' SubClassOf 'pharynx cancer' 'oropharynx cancer' SubClassOf 'neoplasm of oropharynx' 'oropharynx cancer' SubClassOf 'pharynx cancer' http://purl.obolibrary.org/obo/MONDO_0030074 spondylometaphyseal dysplasia with corneal dystrophy 'spondylometaphyseal dysplasia with corneal dystrophy' SubClassOf 'genetic disorder' 'spondylometaphyseal dysplasia with corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030073 Mitchell syndrome 'Mitchell syndrome' SubClassOf 'disorder of defective peroxisome oxidative status' 'Mitchell syndrome' SubClassOf 'disorder of defective peroxisome oxidative status' http://www.ebi.ac.uk/efo/EFO_1001939 Barrett adenocarcinoma 'Barrett adenocarcinoma' SubClassOf 'esophageal adenocarcinoma' 'Barrett adenocarcinoma' SubClassOf 'esophageal adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001940 basaloid squamous cell carcinoma 'basaloid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'basaloid squamous cell carcinoma' SubClassOf 'Basaloid Carcinoma' 'basaloid squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'basaloid squamous cell carcinoma' SubClassOf 'Basaloid Carcinoma' http://purl.obolibrary.org/obo/MONDO_0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 'early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'Mendelian encephalopathy' 'early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'Mendelian encephalopathy' 'early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044699 SIN3A-related intellectual disability syndrome 'SIN3A-related intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SIN3A-related intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001949 colon adenocarcinoma 'colon adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'colon adenocarcinoma' SubClassOf 'colon carcinoma' 'colon adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'colon adenocarcinoma' SubClassOf 'colon carcinoma' http://www.ebi.ac.uk/efo/EFO_1001948 childhood T lymphoblastic lymphoma 'childhood T lymphoblastic lymphoma' SubClassOf 'childhood precursor T-lymphoblastic lymphoma/leukemia' 'childhood T lymphoblastic lymphoma' SubClassOf 'lymphoblastic lymphoma' 'childhood T lymphoblastic lymphoma' SubClassOf 'childhood precursor T-lymphoblastic lymphoma/leukemia' 'childhood T lymphoblastic lymphoma' SubClassOf 'lymphoblastic lymphoma' http://purl.obolibrary.org/obo/MONDO_0030061 periventricular nodular heterotopia 9 'periventricular nodular heterotopia 9' SubClassOf 'periventricular nodular heterotopia' 'periventricular nodular heterotopia 9' SubClassOf 'periventricular nodular heterotopia' http://www.ebi.ac.uk/efo/EFO_1001947 childhood T acute lymphoblastic leukemia 'childhood T acute lymphoblastic leukemia' SubClassOf 'childhood acute lymphoblastic leukemia' 'childhood T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' 'childhood T acute lymphoblastic leukemia' SubClassOf 'childhood precursor T-lymphoblastic lymphoma/leukemia' 'childhood T acute lymphoblastic leukemia' SubClassOf 'childhood acute lymphoblastic leukemia' 'childhood T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' 'childhood T acute lymphoblastic leukemia' SubClassOf 'childhood precursor T-lymphoblastic lymphoma/leukemia' http://www.ebi.ac.uk/efo/EFO_1001946 childhood B acute lymphoblastic leukemia 'childhood B acute lymphoblastic leukemia' SubClassOf 'precursor B-cell acute lymphoblastic leukemia' 'childhood B acute lymphoblastic leukemia' SubClassOf 'childhood acute lymphoblastic leukemia' 'childhood B acute lymphoblastic leukemia' SubClassOf 'precursor B-cell acute lymphoblastic leukemia' 'childhood B acute lymphoblastic leukemia' SubClassOf 'childhood acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_1001942 bronchogenic carcinoma 'bronchogenic carcinoma' SubClassOf 'lung carcinoma' 'bronchogenic carcinoma' SubClassOf 'bronchus cancer' 'bronchogenic carcinoma' SubClassOf 'lung carcinoma' 'bronchogenic carcinoma' SubClassOf 'bronchus cancer' http://purl.obolibrary.org/obo/MONDO_0030067 Treacher Collins syndrome 4 'Treacher Collins syndrome 4' SubClassOf 'Treacher-Collins syndrome' 'Treacher Collins syndrome 4' SubClassOf 'Treacher-Collins syndrome' http://purl.obolibrary.org/obo/MONDO_0030066 granulomatous disease, chronic, autosomal recessive, 5 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf 'chronic granulomatous disease' 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf 'chronic granulomatous disease' http://purl.obolibrary.org/obo/MONDO_0030069 hyper-IgE recurrent infection syndrome 5, autosomal recessive 'hyper-IgE recurrent infection syndrome 5, autosomal recessive' SubClassOf 'hyper-IgE syndrome' 'hyper-IgE recurrent infection syndrome 5, autosomal recessive' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0030062 arrhythmogenic right ventricular dysplasia, familial, 14 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 'agenesis of corpus callosum, cardiac, ocular, and genital syndrome' SubClassOf 'genetic disorder' 'agenesis of corpus callosum, cardiac, ocular, and genital syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030064 episodic ataxia, type 9 'episodic ataxia, type 9' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia, type 9' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0030089 diabetes mellitus, permanent neonatal 4 'diabetes mellitus, permanent neonatal 4' SubClassOf 'permanent neonatal diabetes mellitus' 'diabetes mellitus, permanent neonatal 4' SubClassOf 'permanent neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0030088 diabetes mellitus, permanent neonatal 3 'diabetes mellitus, permanent neonatal 3' SubClassOf 'permanent neonatal diabetes mellitus' 'diabetes mellitus, permanent neonatal 3' SubClassOf 'permanent neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0030087 diabetes mellitus, permanent neonatal 2 'diabetes mellitus, permanent neonatal 2' SubClassOf 'permanent neonatal diabetes mellitus' 'diabetes mellitus, permanent neonatal 2' SubClassOf 'permanent neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0019507 amelogenesis imperfecta 'amelogenesis imperfecta' SubClassOf 'Dental enamel hypoplasia' 'amelogenesis imperfecta' SubClassOf 'Dental enamel hypoplasia' http://purl.obolibrary.org/obo/MONDO_0019506 obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 'obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome' SubClassOf 'syndromic disease' 'obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019508 van der Woude syndrome 'van der Woude syndrome' SubClassOf 'syndromic disease' 'van der Woude syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'van der Woude syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'van der Woude syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019503 anterior segment dysgenesis 'anterior segment dysgenesis' SubClassOf 'eye disease' 'anterior segment dysgenesis' SubClassOf 'disorder of development or morphogenesis' 'anterior segment dysgenesis' SubClassOf 'eye disease' 'anterior segment dysgenesis' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'non-syndromic intellectual disability' 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'non-syndromic intellectual disability' 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome 'Usher syndrome' SubClassOf 'syndromic disease' 'Usher syndrome' SubClassOf 'autosomal recessive disease' 'Usher syndrome' SubClassOf 'syndromic disease' 'Usher syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0019500 extragonadal teratoma 'extragonadal teratoma' SubClassOf 'extragonadal non-dysgerminomatous germ cell tumor' 'extragonadal teratoma' SubClassOf 'extragonadal non-dysgerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0020510 idiopathic syringomyelia 'idiopathic syringomyelia' SubClassOf 'primary syringomyelia' 'idiopathic syringomyelia' SubClassOf 'primary syringomyelia' http://purl.obolibrary.org/obo/MONDO_0019518 Waardenburg-Shah syndrome 'Waardenburg-Shah syndrome' SubClassOf 'intestinal motility disease' 'Waardenburg-Shah syndrome' SubClassOf 'neurocristopathy' 'Waardenburg-Shah syndrome' SubClassOf 'Waardenburg syndrome' 'Waardenburg-Shah syndrome' SubClassOf 'intestinal motility disease' 'Waardenburg-Shah syndrome' SubClassOf 'neurocristopathy' 'Waardenburg-Shah syndrome' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0019517 Waardenburg syndrome type 2 'Waardenburg syndrome type 2' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 2' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0019514 hepatic veno-occlusive disease 'hepatic veno-occlusive disease' SubClassOf 'hepatic vascular disorder' 'hepatic veno-occlusive disease' SubClassOf 'hepatic vascular disorder' http://purl.obolibrary.org/obo/MONDO_0020513 spermatocytic seminoma 'spermatocytic seminoma' SubClassOf 'testicular seminoma' 'spermatocytic seminoma' SubClassOf 'testicular seminoma' http://purl.obolibrary.org/obo/MONDO_0019516 exudative vitreoretinopathy 'exudative vitreoretinopathy' SubClassOf 'retinal vascular disorder' 'exudative vitreoretinopathy' SubClassOf 'vitreoretinal degeneration' 'exudative vitreoretinopathy' SubClassOf 'retinal vascular disorder' 'exudative vitreoretinopathy' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0020511 precursor B-cell acute lymphoblastic leukemia 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0020507 leukoencephalopathy with vanishing white matter 1 'leukoencephalopathy with vanishing white matter 1' SubClassOf 'leukoencephalopathy with vanishing white matter' 'leukoencephalopathy with vanishing white matter 1' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0020505 ravine syndrome 'ravine syndrome' SubClassOf 'leukodystrophy' 'ravine syndrome' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0020504 hereditary recurrent myoglobinuria 'hereditary recurrent myoglobinuria' SubClassOf 'inborn errors of metabolism' 'hereditary recurrent myoglobinuria' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019525 tetrasomy X 'tetrasomy X' SubClassOf 'tetrasomy' 'tetrasomy X' SubClassOf 'inherited primary ovarian failure' 'tetrasomy X' SubClassOf 'tetrasomy' 'tetrasomy X' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0019524 Bartter syndrome type 4 'Bartter syndrome type 4' SubClassOf 'Bartter syndrome' 'Bartter syndrome type 4' SubClassOf 'Bartter syndrome' http://purl.obolibrary.org/obo/MONDO_0019521 centripetalis recessive dystrophic epidermolysis bullosa 'centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' 'centripetalis recessive dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0019522 recessive dystrophic epidermolysis bullosa-generalized other 'recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'epidermolysis bullosa dystrophica' 'recessive dystrophic epidermolysis bullosa-generalized other' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0020508 primary syringomyelia 'primary syringomyelia' SubClassOf 'syringomyelia' 'primary syringomyelia' SubClassOf 'syringomyelia' http://purl.obolibrary.org/obo/MONDO_0020539 extragonadal non-dysgerminomatous germ cell tumor 'extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'nongerminomatous germ cell tumor' 'extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0019535 drug-induced autoimmune hemolytic anemia 'drug-induced autoimmune hemolytic anemia' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'drug-induced autoimmune hemolytic anemia' SubClassOf 'Anemia, Hemolytic, Autoimmune' http://purl.obolibrary.org/obo/MONDO_0019537 hemoglobin D disease 'hemoglobin D disease' SubClassOf 'anemia' 'hemoglobin D disease' SubClassOf 'inherited hemoglobinopathy' 'hemoglobin D disease' SubClassOf 'inherited hemoglobinopathy' 'hemoglobin D disease' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0019531 hemolytic anemia due to glutathione reductase deficiency 'hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0019530 non-syndromic syndactyly 'non-syndromic syndactyly' SubClassOf 'syndactyly' 'non-syndromic syndactyly' SubClassOf 'syndactyly' http://purl.obolibrary.org/obo/MONDO_0020521 Ehlers-Danlos syndrome type 7A 'Ehlers-Danlos syndrome type 7A' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasia type' 'Ehlers-Danlos syndrome type 7A' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasia type' http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' http://purl.obolibrary.org/obo/MONDO_0020526 acute megakaryoblastic leukemia in down syndrome 'acute megakaryoblastic leukemia in down syndrome' SubClassOf 'acute megakaryoblastic leukaemia' 'acute megakaryoblastic leukemia in down syndrome' SubClassOf 'acute megakaryoblastic leukaemia' http://purl.obolibrary.org/obo/MONDO_0020525 transient neonatal diabetes mellitus 'transient neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' 'transient neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0019549 severe early-onset axonal neuropathy due to MFN2 deficiency 'severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'hereditary motor and sensory neuropathy' 'severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019548 autosomal dominant intermediate Charcot-Marie-Tooth disease 'autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'intermediate Charcot-Marie-Tooth disease' 'autosomal dominant intermediate Charcot-Marie-Tooth disease' SubClassOf 'intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0020522 Ehlers-Danlos syndrome type 7B 'Ehlers-Danlos syndrome type 7B' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasia type' 'Ehlers-Danlos syndrome type 7B' SubClassOf 'Ehlers-Danlos syndrome, arthrochalasia type' http://purl.obolibrary.org/obo/MONDO_0019542 acute liver failure 'acute liver failure' SubClassOf 'liver failure' 'acute liver failure' SubClassOf 'liver failure' http://purl.obolibrary.org/obo/MONDO_0019544 cocaine intoxication 'cocaine intoxication' SubClassOf 'poisoning' 'cocaine intoxication' SubClassOf 'poisoning' http://purl.obolibrary.org/obo/MONDO_0020550 gestational choriocarcinoma 'gestational choriocarcinoma' SubClassOf 'Genital neoplasm, female' 'gestational choriocarcinoma' SubClassOf 'choriocarcinoma' 'gestational choriocarcinoma' SubClassOf 'gestational trophoblastic neoplasm' 'gestational choriocarcinoma' SubClassOf 'Genital neoplasm, female' 'gestational choriocarcinoma' SubClassOf 'choriocarcinoma' 'gestational choriocarcinoma' SubClassOf 'gestational trophoblastic neoplasm' http://purl.obolibrary.org/obo/MONDO_0019558 discoid lupus erythematosus 'discoid lupus erythematosus' SubClassOf 'chronic cutaneous lupus erythematosus' 'discoid lupus erythematosus' SubClassOf 'chronic cutaneous lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0020558 autosomal dominant Charcot-Marie-Tooth disease type 2K 'autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'autosomal dominant Charcot-Marie-Tooth disease type 2K' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0019557 chilblain lupus 'chilblain lupus' SubClassOf 'chronic cutaneous lupus erythematosus' 'chilblain lupus' SubClassOf 'skin vascular disease' 'chilblain lupus' SubClassOf 'chronic cutaneous lupus erythematosus' 'chilblain lupus' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0019550 hereditary motor and sensory neuropathy with acrodystrophy 'hereditary motor and sensory neuropathy with acrodystrophy' SubClassOf 'hereditary motor and sensory neuropathy' 'hereditary motor and sensory neuropathy with acrodystrophy' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019551 hereditary motor and sensory neuropathy type 6 'hereditary motor and sensory neuropathy type 6' SubClassOf 'hereditary motor and sensory neuropathy' 'hereditary motor and sensory neuropathy type 6' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019570 Cockayne syndrome type 2 'Cockayne syndrome type 2' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 2' SubClassOf 'Cockayne syndrome' http://purl.obolibrary.org/obo/MONDO_0020541 maligant granulosa cell tumor of ovary 'maligant granulosa cell tumor of ovary' SubClassOf 'malignant sex cord stromal tumor of ovary' 'maligant granulosa cell tumor of ovary' SubClassOf 'ovarian granulosa cell tumor' 'maligant granulosa cell tumor of ovary' SubClassOf 'malignant sex cord stromal tumor of ovary' 'maligant granulosa cell tumor of ovary' SubClassOf 'ovarian granulosa cell tumor' http://purl.obolibrary.org/obo/MONDO_0020549 invasive hydatidiform mole 'invasive hydatidiform mole' SubClassOf 'gestational trophoblastic neoplasm' 'invasive hydatidiform mole' SubClassOf 'Hydatidiform Mole' 'invasive hydatidiform mole' SubClassOf 'gestational trophoblastic neoplasm' 'invasive hydatidiform mole' SubClassOf 'Hydatidiform Mole' http://purl.obolibrary.org/obo/MONDO_0019569 Cockayne syndrome type 1 'Cockayne syndrome type 1' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 1' SubClassOf 'Cockayne syndrome' http://purl.obolibrary.org/obo/MONDO_0020547 chronic graft versus host disease 'chronic graft versus host disease' SubClassOf 'graft versus host disease' 'chronic graft versus host disease' SubClassOf 'graft versus host disease' http://purl.obolibrary.org/obo/MONDO_0019568 Ehlers-Danlos syndrome, classic type, 2 'Ehlers-Danlos syndrome, classic type, 2' SubClassOf 'Ehlers-Danlos syndrome, classic type' 'Ehlers-Danlos syndrome, classic type, 2' SubClassOf 'Ehlers-Danlos syndrome, classic type' http://purl.obolibrary.org/obo/MONDO_0020546 acute graft versus host disease 'acute graft versus host disease' SubClassOf 'graft versus host disease' 'acute graft versus host disease' SubClassOf 'graft versus host disease' http://purl.obolibrary.org/obo/MONDO_0019565 hereditary von Willebrand disease 'hereditary von Willebrand disease' SubClassOf 'von Willebrand disease (hereditary or acquired)' 'hereditary von Willebrand disease' SubClassOf 'von Willebrand disease (hereditary or acquired)' http://purl.obolibrary.org/obo/MONDO_0019567 Ehlers-Danlos syndrome, classic type, 1 'Ehlers-Danlos syndrome, classic type, 1' SubClassOf 'Ehlers-Danlos syndrome, classic type' 'Ehlers-Danlos syndrome, classic type, 1' SubClassOf 'Ehlers-Danlos syndrome, classic type' http://purl.obolibrary.org/obo/MONDO_0020576 cutaneous vasculitis 'cutaneous vasculitis' SubClassOf 'vasculitis' 'cutaneous vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0020575 polymorphic ventricular tachycardia 'polymorphic ventricular tachycardia' SubClassOf 'ventricular tachycardia' 'polymorphic ventricular tachycardia' SubClassOf 'ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0020574 central nervous system nongerminomatous germ cell tumor 'central nervous system nongerminomatous germ cell tumor' SubClassOf 'central nervous system germ cell tumor' 'central nervous system nongerminomatous germ cell tumor' SubClassOf 'central nervous system germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0019575 hypotrichosis simplex of the scalp 'hypotrichosis simplex of the scalp' SubClassOf 'alopecia' 'hypotrichosis simplex of the scalp' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0019577 anonychia-onychodystrophy syndrome 'anonychia-onychodystrophy syndrome' SubClassOf 'isolated congenital anonychia' 'anonychia-onychodystrophy syndrome' SubClassOf 'isolated congenital anonychia' http://purl.obolibrary.org/obo/MONDO_0019572 autosomal recessive cutis laxa type 1 'autosomal recessive cutis laxa type 1' SubClassOf 'inherited cutis laxa' 'autosomal recessive cutis laxa type 1' SubClassOf 'inherited cutis laxa' http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa 'autosomal dominant cutis laxa' SubClassOf 'inherited cutis laxa' 'autosomal dominant cutis laxa' SubClassOf 'autosomal dominant disease' 'autosomal dominant cutis laxa' SubClassOf 'inherited cutis laxa' 'autosomal dominant cutis laxa' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019573 autosomal recessive cutis laxa type 2 'autosomal recessive cutis laxa type 2' SubClassOf 'inherited cutis laxa' 'autosomal recessive cutis laxa type 2' SubClassOf 'inborn disorder of proline metabolism' 'autosomal recessive cutis laxa type 2' SubClassOf 'skeletal dysplasia' 'autosomal recessive cutis laxa type 2' SubClassOf 'inherited cutis laxa' 'autosomal recessive cutis laxa type 2' SubClassOf 'inborn disorder of proline metabolism' 'autosomal recessive cutis laxa type 2' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020561 myxoid/round cell liposarcoma 'myxoid/round cell liposarcoma' SubClassOf 'liposarcoma' 'myxoid/round cell liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0020569 intermediate DEND syndrome 'intermediate DEND syndrome' SubClassOf 'DEND syndrome' 'intermediate DEND syndrome' SubClassOf 'DEND syndrome' http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019586 X-linked nonsyndromic hearing loss 'X-linked nonsyndromic hearing loss' SubClassOf 'X-linked deafness' 'X-linked nonsyndromic hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'X-linked nonsyndromic hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' 'X-linked nonsyndromic hearing loss' SubClassOf 'X-linked deafness' 'X-linked nonsyndromic hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'X-linked nonsyndromic hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive 'hearing loss, autosomal recessive' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'hearing loss, autosomal recessive' SubClassOf 'postlingual non-syndromic genetic hearing loss' 'hearing loss, autosomal recessive' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'hearing loss, autosomal recessive' SubClassOf 'postlingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0020590 mycobacterial infectious disease 'mycobacterial infectious disease' SubClassOf 'bacterial disease' 'mycobacterial infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0020596 mucin-producing carcinoma 'mucin-producing carcinoma' SubClassOf 'mucinous neoplasm' 'mucin-producing carcinoma' SubClassOf 'carcinoma' 'mucin-producing carcinoma' SubClassOf 'mucinous neoplasm' 'mucin-producing carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0020594 abducens nerve disorder 'abducens nerve disorder' SubClassOf 'cranial nerve neuropathy' 'abducens nerve disorder' SubClassOf 'cranial nerve neuropathy' http://purl.obolibrary.org/obo/MONDO_0020592 disorder of pharynx 'disorder of pharynx' SubClassOf 'otorhinolaryngologic disease' 'disorder of pharynx' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0020599 acquired coagulation factor deficiency 'acquired coagulation factor deficiency' SubClassOf 'coagulation protein disease' 'acquired coagulation factor deficiency' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0020587 factor XI deficiency 'factor XI deficiency' SubClassOf 'hemophilia' 'factor XI deficiency' SubClassOf 'hemophilia' http://purl.obolibrary.org/obo/MONDO_0020585 anemia due to erythrocyte enzyme disorder 'anemia due to erythrocyte enzyme disorder' SubClassOf 'anemia due to enzyme disorder' 'anemia due to erythrocyte enzyme disorder' SubClassOf 'anemia due to enzyme disorder' http://purl.obolibrary.org/obo/MONDO_0020583 chromosome 17 disorder 'chromosome 17 disorder' SubClassOf 'autosomal anomaly' 'chromosome 17 disorder' SubClassOf 'autosomal anomaly' http://purl.obolibrary.org/obo/MONDO_0020582 benign uterine ligament neoplasm 'benign uterine ligament neoplasm' SubClassOf 'uterine ligament neoplasm' 'benign uterine ligament neoplasm' SubClassOf 'uterine ligament neoplasm' http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa 'benign PEComa' SubClassOf 'PEComa' 'benign PEComa' SubClassOf 'PEComa' http://purl.obolibrary.org/obo/MONDO_0020580 germinomatous germ cell tumor 'germinomatous germ cell tumor' SubClassOf 'germ cell tumor' 'germinomatous germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0020589 cardiac germ cell tumor 'cardiac germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'cardiac germ cell tumor' SubClassOf 'Heart neoplasm' 'cardiac germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'cardiac germ cell tumor' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0020588 lung PEComa 'lung PEComa' SubClassOf 'PEComa' 'lung PEComa' SubClassOf 'PEComa' http://www.ebi.ac.uk/efo/EFO_1001795 fusariosis 'fusariosis' SubClassOf 'opportunistic mycosis' 'fusariosis' SubClassOf 'opportunistic mycosis' http://purl.obolibrary.org/obo/MONDO_1030001 epilepsy, juvenile absence, susceptibility to 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'juvenile absence epilepsy') 'epilepsy, juvenile absence, susceptibility to' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' 'epilepsy, juvenile absence, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'juvenile absence epilepsy' 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'juvenile absence epilepsy') http://purl.obolibrary.org/obo/MONDO_0019408 Astley-Kendall dysplasia 'Astley-Kendall dysplasia' SubClassOf 'chondrodysplasia punctata' 'Astley-Kendall dysplasia' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0019407 microcephalic osteodysplastic dysplasia, Saul-Wilson type 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'bone development disease' 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'autosomal dominant disease' 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'bone development disease' 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'primordial dwarfism and slender bone disorder' 'microcephalic osteodysplastic dysplasia, Saul-Wilson type' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019409 idiopathic juvenile osteoporosis 'idiopathic juvenile osteoporosis' SubClassOf 'rheumatic disease' 'idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' 'idiopathic juvenile osteoporosis' SubClassOf 'rheumatic disease' 'idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' http://purl.obolibrary.org/obo/MONDO_0019404 perineurioma 'perineurioma' SubClassOf 'tumor of cranial and spinal nerves' 'perineurioma' SubClassOf 'nerve sheath neoplasm' 'perineurioma' SubClassOf 'tumor of cranial and spinal nerves' 'perineurioma' SubClassOf 'nerve sheath neoplasm' http://purl.obolibrary.org/obo/MONDO_0019403 congenital dyserythropoietic anemia 'congenital dyserythropoietic anemia' SubClassOf 'familial hemolytic anemia' 'congenital dyserythropoietic anemia' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0019406 craniofacial conodysplasia 'craniofacial conodysplasia' SubClassOf 'acromelic dysplasia' 'craniofacial conodysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0019405 facial onset sensory and motor neuronopathy 'facial onset sensory and motor neuronopathy' SubClassOf 'inherited neurodegenerative disorder' 'facial onset sensory and motor neuronopathy' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0019402 beta thalassemia 'beta thalassemia' SubClassOf 'Thalassemia' 'beta thalassemia' SubClassOf 'beta-thalassemia and related diseases' 'beta thalassemia' SubClassOf 'endocrine system disease' 'beta thalassemia' SubClassOf 'Thalassemia' 'beta thalassemia' SubClassOf 'beta-thalassemia and related diseases' 'beta thalassemia' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0019401 sporadic idiopathic steroid-resistant nephrotic syndrome 'sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'steroid-resistant nephrotic syndrome' 'sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'idiopathic nephrotic syndrome' 'sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'steroid-resistant nephrotic syndrome' 'sporadic idiopathic steroid-resistant nephrotic syndrome' SubClassOf 'idiopathic nephrotic syndrome' http://www.ebi.ac.uk/efo/EFO_1001754 Abruptio Placentae 'Abruptio Placentae' SubClassOf 'placenta disease' 'Abruptio Placentae' SubClassOf 'placenta disease' http://purl.obolibrary.org/obo/MONDO_0019419 X-linked intellectual disability-macrocephaly-macroorchidism syndrome 'X-linked intellectual disability-macrocephaly-macroorchidism syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-macrocephaly-macroorchidism syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020417 right aortic arch 'right aortic arch' SubClassOf 'aortic arch defects' 'right aortic arch' SubClassOf 'aortic arch defects' http://www.ebi.ac.uk/efo/EFO_1001759 alcohol amnestic disorder 'alcohol amnestic disorder' SubClassOf 'alcohol-related disorders' 'alcohol amnestic disorder' SubClassOf 'amnestic disorder' 'alcohol amnestic disorder' SubClassOf 'alcohol-related disorders' 'alcohol amnestic disorder' SubClassOf 'amnestic disorder' http://purl.obolibrary.org/obo/MONDO_0019415 fetal and neonatal alloimmune thrombocytopenia 'fetal and neonatal alloimmune thrombocytopenia' SubClassOf 'hemorrhagic disease' 'fetal and neonatal alloimmune thrombocytopenia' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0019414 BRESEK syndrome 'BRESEK syndrome' SubClassOf 'syndromic disease' 'BRESEK syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019417 X-linked intellectual disability-precocious puberty-obesity syndrome 'X-linked intellectual disability-precocious puberty-obesity syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-precocious puberty-obesity syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 'X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001755 accelerated phase myeloid leukemia 'accelerated phase myeloid leukemia' SubClassOf 'chronic myelogenous leukemia' 'accelerated phase myeloid leukemia' SubClassOf 'chronic myelogenous leukemia' http://purl.obolibrary.org/obo/MONDO_0019411 genochondromatosis type 1 'genochondromatosis type 1' SubClassOf 'genochondromatosis' 'genochondromatosis type 1' SubClassOf 'genochondromatosis' http://purl.obolibrary.org/obo/MONDO_0019413 ischio-vertebral syndrome 'ischio-vertebral syndrome' SubClassOf 'dysostosis' 'ischio-vertebral syndrome' SubClassOf 'syndromic disease' 'ischio-vertebral syndrome' SubClassOf 'genetic disorder' 'ischio-vertebral syndrome' SubClassOf 'dysostosis' 'ischio-vertebral syndrome' SubClassOf 'syndromic disease' 'ischio-vertebral syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019412 dysspondyloenchondromatosis 'dysspondyloenchondromatosis' SubClassOf 'skeletal dysplasia' 'dysspondyloenchondromatosis' SubClassOf 'skeletal dysplasia' http://www.ebi.ac.uk/efo/EFO_1001763 basal cell neoplasm 'basal cell neoplasm' SubClassOf 'epithelial neoplasm' 'basal cell neoplasm' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1001760 aneurysmal bone cyst 'aneurysmal bone cyst' SubClassOf 'bone neoplasm' 'aneurysmal bone cyst' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0019429 X-linked neurodegenerative syndrome, Hamel type 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'inherited neurodegenerative disorder' 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0019426 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome' SubClassOf 'disorder of development or morphogenesis' 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome' SubClassOf 'disorder of development or morphogenesis' 'X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020404 shone complex 'shone complex' SubClassOf 'syndromic disease' 'shone complex' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' 'shone complex' SubClassOf 'syndromic disease' 'shone complex' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' http://www.ebi.ac.uk/efo/EFO_1001767 brain stem neoplasm 'brain stem neoplasm' SubClassOf 'brain neoplasm' 'brain stem neoplasm' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0019428 fried syndrome 'fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019427 X-linked neurodegenerative syndrome, Bertini type 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'inherited neurodegenerative disorder' 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0019422 X-linked intellectual disability, Stevenson type 'X-linked intellectual disability, Stevenson type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stevenson type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Stevenson type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stevenson type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019421 X-linked intellectual disability, Seemanova type 'X-linked intellectual disability, Seemanova type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Seemanova type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019424 X-linked intellectual disability-acromegaly-hyperactivity syndrome 'X-linked intellectual disability-acromegaly-hyperactivity syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-acromegaly-hyperactivity syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019423 X-linked intellectual disability, Stoll type 'X-linked intellectual disability, Stoll type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Stoll type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019420 X-linked intellectual disability, Pai type 'X-linked intellectual disability, Pai type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Pai type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020437 atrial septal defect, ostium primum type 'atrial septal defect, ostium primum type' SubClassOf 'atrial heart septal defect' 'atrial septal defect, ostium primum type' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0020436 atrial septal defect, sinus venosus type 'atrial septal defect, sinus venosus type' SubClassOf 'atrial heart septal defect' 'atrial septal defect, sinus venosus type' SubClassOf 'atrial heart septal defect' http://www.ebi.ac.uk/efo/EFO_1001779 chronic myelomonocytic leukemia 'chronic myelomonocytic leukemia' SubClassOf 'myelodysplastic/myeloproliferative disease' 'chronic myelomonocytic leukemia' SubClassOf 'chronic leukemia' 'chronic myelomonocytic leukemia' SubClassOf 'Myelodysplastic/Myeloproliferative Neoplasm' 'chronic myelomonocytic leukemia' SubClassOf 'myelodysplastic/myeloproliferative disease' 'chronic myelomonocytic leukemia' SubClassOf 'chronic leukemia' 'chronic myelomonocytic leukemia' SubClassOf 'Myelodysplastic/Myeloproliferative Neoplasm' http://purl.obolibrary.org/obo/MONDO_0019439 AA amyloidosis 'AA amyloidosis' SubClassOf 'amyloidosis' 'AA amyloidosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'AA amyloidosis' SubClassOf 'nervous system disease' 'AA amyloidosis' SubClassOf 'amyloidosis' 'AA amyloidosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'AA amyloidosis' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0020435 atrial septal defect, coronary sinus type 'atrial septal defect, coronary sinus type' SubClassOf 'atrial heart septal defect' 'atrial septal defect, coronary sinus type' SubClassOf 'syndromic disease' 'atrial septal defect, coronary sinus type' SubClassOf 'atrial heart septal defect' 'atrial septal defect, coronary sinus type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis 'AL amyloidosis' SubClassOf 'amyloidosis' 'AL amyloidosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'AL amyloidosis' SubClassOf 'non-familial hypertrophic cardiomyopathy' 'AL amyloidosis' SubClassOf 'nervous system disease' 'AL amyloidosis' SubClassOf 'amyloidosis' 'AL amyloidosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'AL amyloidosis' SubClassOf 'non-familial hypertrophic cardiomyopathy' 'AL amyloidosis' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0020434 atrial septal defect, ostium secundum type 'atrial septal defect, ostium secundum type' SubClassOf 'atrial heart septal defect' 'atrial septal defect, ostium secundum type' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0019430 X-linked intellectual disability-ataxia-apraxia syndrome 'X-linked intellectual disability-ataxia-apraxia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-ataxia-apraxia syndrome' SubClassOf 'X-linked cerebellar ataxia' 'X-linked intellectual disability-ataxia-apraxia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-ataxia-apraxia syndrome' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0020429 cor triatriatum dexter 'cor triatriatum dexter' SubClassOf 'triatrial heart' 'cor triatriatum dexter' SubClassOf 'triatrial heart' http://purl.obolibrary.org/obo/MONDO_0020428 congenital Gerbode defect 'congenital Gerbode defect' SubClassOf 'congenital heart malformation' 'congenital Gerbode defect' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0020427 Laubry-Pezzi syndrome 'Laubry-Pezzi syndrome' SubClassOf 'congenital heart malformation' 'Laubry-Pezzi syndrome' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0019448 benign adult familial myoclonic epilepsy 'benign adult familial myoclonic epilepsy' SubClassOf 'epilepsy, familial adult myoclonic' 'benign adult familial myoclonic epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' 'benign adult familial myoclonic epilepsy' SubClassOf 'epilepsy, familial adult myoclonic' 'benign adult familial myoclonic epilepsy' SubClassOf 'adolescent-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019449 lissencephaly type 3-familial fetal akinesia sequence syndrome 'lissencephaly type 3-familial fetal akinesia sequence syndrome' SubClassOf 'lissencephaly type 3' 'lissencephaly type 3-familial fetal akinesia sequence syndrome' SubClassOf 'lissencephaly type 3' http://purl.obolibrary.org/obo/MONDO_0019443 dextro-looped transposition of the great arteries 'dextro-looped transposition of the great arteries' SubClassOf 'transposition of the great arteries' 'dextro-looped transposition of the great arteries' SubClassOf 'congenital heart disease' 'dextro-looped transposition of the great arteries' SubClassOf 'transposition of the great arteries' 'dextro-looped transposition of the great arteries' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0019441 ATTRV122I amyloidosis 'ATTRV122I amyloidosis' SubClassOf 'familial restrictive cardiomyopathy' 'ATTRV122I amyloidosis' SubClassOf 'familial amyloid neuropathy' 'ATTRV122I amyloidosis' SubClassOf 'familial restrictive cardiomyopathy' 'ATTRV122I amyloidosis' SubClassOf 'familial amyloid neuropathy' http://purl.obolibrary.org/obo/MONDO_0019460 acute leukemia of ambiguous lineage 'acute leukemia of ambiguous lineage' SubClassOf 'acute myeloid leukemia' 'acute leukemia of ambiguous lineage' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'inborn disorder of purine metabolism' 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0019455 acute panmyelosis with myelofibrosis 'acute panmyelosis with myelofibrosis' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute panmyelosis with myelofibrosis' SubClassOf 'acute myeloid leukemia by FAB classification' http://purl.obolibrary.org/obo/MONDO_0019457 therapy related acute myeloid leukemia and myelodysplastic syndrome 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'acute myeloid leukemia' 'therapy related acute myeloid leukemia and myelodysplastic syndrome' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0019456 acute myeloid leukemia with multilineage dysplasia 'acute myeloid leukemia with multilineage dysplasia' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia with multilineage dysplasia' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0019450 lissencephaly with cerebellar hypoplasia 'lissencephaly with cerebellar hypoplasia' SubClassOf 'lissencephaly spectrum disorders' 'lissencephaly with cerebellar hypoplasia' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0019453 myelodysplastic syndrome with multilineage dysplasia 'myelodysplastic syndrome with multilineage dysplasia' SubClassOf 'myelodysplastic syndrome' 'myelodysplastic syndrome with multilineage dysplasia' SubClassOf 'myelodysplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0019452 myeloproliferative neoplasm, unclassifiable 'myeloproliferative neoplasm, unclassifiable' SubClassOf 'chronic myeloproliferative disorder' 'myeloproliferative neoplasm, unclassifiable' SubClassOf 'chronic myeloproliferative disorder' http://purl.obolibrary.org/obo/MONDO_0019471 adult T-cell leukemia/lymphoma 'adult T-cell leukemia/lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'adult T-cell leukemia/lymphoma' SubClassOf 'virus associated tumor' 'adult T-cell leukemia/lymphoma' SubClassOf 'T-cell leukemia' 'adult T-cell leukemia/lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'adult T-cell leukemia/lymphoma' SubClassOf 'virus associated tumor' 'adult T-cell leukemia/lymphoma' SubClassOf 'T-cell leukemia' http://purl.obolibrary.org/obo/MONDO_0019470 aggressive NK-cell leukemia 'aggressive NK-cell leukemia' SubClassOf 'chronic leukemia' 'aggressive NK-cell leukemia' SubClassOf 'chronic leukemia' http://purl.obolibrary.org/obo/MONDO_0019469 T-cell large granular lymphocyte leukemia 'T-cell large granular lymphocyte leukemia' SubClassOf 'chronic leukemia' 'T-cell large granular lymphocyte leukemia' SubClassOf 'immune system disease' 'T-cell large granular lymphocyte leukemia' SubClassOf 'lymphoid leukemia' 'T-cell large granular lymphocyte leukemia' SubClassOf 'chronic leukemia' 'T-cell large granular lymphocyte leukemia' SubClassOf 'immune system disease' 'T-cell large granular lymphocyte leukemia' SubClassOf 'lymphoid leukemia' http://purl.obolibrary.org/obo/MONDO_0019465 nodal marginal zone B-cell lymphoma 'nodal marginal zone B-cell lymphoma' SubClassOf 'marginal zone B-cell lymphoma' 'nodal marginal zone B-cell lymphoma' SubClassOf 'marginal zone B-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0020477 progeria-associated arthropathy 'progeria-associated arthropathy' SubClassOf 'rheumatic disease' 'progeria-associated arthropathy' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0020476 mesial temporal lobe epilepsy with hippocampal sclerosis 'mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'familial partial epilepsy' 'mesial temporal lobe epilepsy with hippocampal sclerosis' SubClassOf 'familial partial epilepsy' http://purl.obolibrary.org/obo/MONDO_0020475 dermotrichic syndrome 'dermotrichic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'dermotrichic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0020474 cheirospondyloenchondromatosis 'cheirospondyloenchondromatosis' SubClassOf 'skeletal dysplasia' 'cheirospondyloenchondromatosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020473 dappled diaphyseal dysplasia 'dappled diaphyseal dysplasia' SubClassOf 'chondrodysplasia punctata' 'dappled diaphyseal dysplasia' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0020472 Turner syndrome due to structural X chromosome anomalies 'Turner syndrome due to structural X chromosome anomalies' SubClassOf 'Turner syndrome' 'Turner syndrome due to structural X chromosome anomalies' SubClassOf 'Turner syndrome' http://purl.obolibrary.org/obo/MONDO_0020470 49,XYYYY syndrome '49,XYYYY syndrome' SubClassOf 'pentasomy' '49,XYYYY syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '49,XYYYY syndrome' SubClassOf 'pentasomy' '49,XYYYY syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020478 Leber plus disease 'Leber plus disease' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'Leber plus disease' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0019479 histiocytic sarcoma 'histiocytic sarcoma' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' 'histiocytic sarcoma' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' http://purl.obolibrary.org/obo/MONDO_0019473 enteropathy-associated T-cell lymphoma 'enteropathy-associated T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'enteropathy-associated T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0019472 extranodal nasal NK/T cell lymphoma 'extranodal nasal NK/T cell lymphoma' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'extranodal nasal NK/T cell lymphoma' SubClassOf 'lymphoma' 'extranodal nasal NK/T cell lymphoma' SubClassOf 'Epstein-Barr virus-associated malignant lymphoproliferative disorder' 'extranodal nasal NK/T cell lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0019474 hepatosplenic T-cell lymphoma 'hepatosplenic T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'hepatosplenic T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0019490 progressive familial heart block 'progressive familial heart block' SubClassOf 'heart conduction disease' 'progressive familial heart block' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X 'monosomy X' SubClassOf 'monosomy' 'monosomy X' SubClassOf 'Turner syndrome' 'monosomy X' SubClassOf 'monosomy' 'monosomy X' SubClassOf 'Turner syndrome' http://purl.obolibrary.org/obo/MONDO_0020465 congenital eyelid retraction 'congenital eyelid retraction' SubClassOf 'eyelid disease' 'congenital eyelid retraction' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0020464 euryblepharon 'euryblepharon' SubClassOf 'congenital ectropion' 'euryblepharon' SubClassOf 'congenital ectropion' http://purl.obolibrary.org/obo/MONDO_0020463 isolated congenital ectropion 'isolated congenital ectropion' SubClassOf 'congenital ectropion' 'isolated congenital ectropion' SubClassOf 'congenital ectropion' http://purl.obolibrary.org/obo/MONDO_0020462 tarsal kink syndrome 'tarsal kink syndrome' SubClassOf 'congenital entropion' 'tarsal kink syndrome' SubClassOf 'congenital entropion' http://purl.obolibrary.org/obo/MONDO_0020461 epiblepharon 'epiblepharon' SubClassOf 'eyelid disease' 'epiblepharon' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0020460 acquired von willebrand syndrome 'acquired von willebrand syndrome' SubClassOf 'disease shares features of' some 'hereditary von Willebrand disease' 'acquired von willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0020469 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'syndromic disease' '48,XYYY syndrome' SubClassOf 'tetrasomy' '48,XYYY syndrome' SubClassOf 'tetrasomy' '48,XYYY syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020468 paternal uniparental disomy of chromosome 13 'paternal uniparental disomy of chromosome 13' SubClassOf 'uniparental disomy' 'paternal uniparental disomy of chromosome 13' SubClassOf 'uniparental disomy' http://purl.obolibrary.org/obo/MONDO_0019488 myoclonic epilepsy in non-progressive encephalopathies 'myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'infantile epilepsy syndrome' 'myoclonic epilepsy in non-progressive encephalopathies' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0019487 epilepsy with myoclonic absences 'epilepsy with myoclonic absences' SubClassOf 'childhood-onset epilepsy syndrome' 'epilepsy with myoclonic absences' SubClassOf 'movement disorder' 'epilepsy with myoclonic absences' SubClassOf 'childhood-onset epilepsy syndrome' 'epilepsy with myoclonic absences' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0019489 diffuse palmoplantar keratoderma - acrocyanosis syndrome 'diffuse palmoplantar keratoderma - acrocyanosis syndrome' SubClassOf 'diffuse palmoplantar keratoderma' 'diffuse palmoplantar keratoderma - acrocyanosis syndrome' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0019484 hypothalamic hamartomas with gelastic seizures 'hypothalamic hamartomas with gelastic seizures' SubClassOf 'brain disease' 'hypothalamic hamartomas with gelastic seizures' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0019485 idiopathic hemiconvulsion-hemiplegia syndrome 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'infantile epilepsy syndrome' 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'infantile epilepsy syndrome' 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0020491 subcortical band heterotopia 'subcortical band heterotopia' SubClassOf 'congenital nervous system disorder' 'subcortical band heterotopia' SubClassOf 'syndromic disease' 'subcortical band heterotopia' SubClassOf 'congenital nervous system disorder' 'subcortical band heterotopia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020497 Turcot syndrome with polyposis 'Turcot syndrome with polyposis' SubClassOf 'classic familial adenomatous polyposis' 'Turcot syndrome with polyposis' SubClassOf 'classic familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0020496 familial porencephaly 'familial porencephaly' SubClassOf 'porencephaly' 'familial porencephaly' SubClassOf 'cerebrovascular disorder' 'familial porencephaly' SubClassOf 'porencephaly' 'familial porencephaly' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0020494 oculootodental syndrome 'oculootodental syndrome' SubClassOf 'partial deletion of the long arm of chromosome 11' 'oculootodental syndrome' SubClassOf 'partial deletion of the long arm of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0020493 Haddad syndrome 'Haddad syndrome' SubClassOf 'intestinal motility disease' 'Haddad syndrome' SubClassOf 'intestinal motility disease' http://purl.obolibrary.org/obo/MONDO_0020492 hemimegalencephaly 'hemimegalencephaly' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'hemimegalencephaly' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome 'Turner syndrome' SubClassOf 'syndromic disease' 'Turner syndrome' SubClassOf 'gonadal dysgenesis' 'Turner syndrome' SubClassOf 'inherited primary ovarian failure' 'Turner syndrome' SubClassOf 'sex chromosome disorder of sex development' 'Turner syndrome' SubClassOf 'syndromic disease' 'Turner syndrome' SubClassOf 'gonadal dysgenesis' 'Turner syndrome' SubClassOf 'inherited primary ovarian failure' 'Turner syndrome' SubClassOf 'sex chromosome disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0019497 nonsyndromic genetic hearing loss 'nonsyndromic genetic hearing loss' SubClassOf 'hearing loss' 'nonsyndromic genetic hearing loss' SubClassOf 'hearing loss' http://purl.obolibrary.org/obo/MONDO_0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'inborn metal metabolism disorder' 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'inborn metal metabolism disorder' 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' http://purl.obolibrary.org/obo/MONDO_0020488 atypical progressive supranuclear palsy syndrome 'atypical progressive supranuclear palsy syndrome' SubClassOf 'progressive supranuclear palsy' 'atypical progressive supranuclear palsy syndrome' SubClassOf 'progressive supranuclear palsy' http://purl.obolibrary.org/obo/MONDO_0020485 King-Denborough syndrome 'King-Denborough syndrome' SubClassOf 'disease shares features of' some 'Noonan syndrome' 'King-Denborough syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Noonan syndrome' 'King-Denborough syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0020483 acetazolamide-responsive myotonia 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and ('disease responds to' some 'acetazolamide') 'acetazolamide-responsive myotonia' SubClassOf 'disease responds to' some 'acetazolamide' 'acetazolamide-responsive myotonia' SubClassOf 'potassium-aggravated myotonia' 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide') 'acetazolamide-responsive myotonia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide' 'acetazolamide-responsive myotonia' SubClassOf 'potassium-aggravated myotonia' http://purl.obolibrary.org/obo/MONDO_0020481 myotonia fluctuans 'myotonia fluctuans' SubClassOf 'potassium-aggravated myotonia' 'myotonia fluctuans' SubClassOf 'potassium-aggravated myotonia' http://purl.obolibrary.org/obo/MONDO_0009905 urban-Rogers-Meyer syndrome 'urban-Rogers-Meyer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'urban-Rogers-Meyer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009904 Gitelman syndrome 'Gitelman syndrome' SubClassOf 'renal tubular transport disease' 'Gitelman syndrome' SubClassOf 'syndromic disease' 'Gitelman syndrome' SubClassOf 'inherited renal tubular disease' 'Gitelman syndrome' SubClassOf 'renal tubular transport disease' 'Gitelman syndrome' SubClassOf 'syndromic disease' 'Gitelman syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0009903 postaxial acrofacial dysostosis 'postaxial acrofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'postaxial acrofacial dysostosis' SubClassOf 'syndromic disease' 'postaxial acrofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'postaxial acrofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'postaxial acrofacial dysostosis' SubClassOf 'syndromic disease' 'postaxial acrofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009902 cutaneous porphyria 'cutaneous porphyria' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'cutaneous porphyria' SubClassOf 'inherited porphyria' 'cutaneous porphyria' SubClassOf 'anemia due to erythrocyte enzyme disorder' 'cutaneous porphyria' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 1 'Bartsocas-Papas syndrome 1' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' 'Bartsocas-Papas syndrome 1' SubClassOf 'ectodermal dysplasia syndrome' 'Bartsocas-Papas syndrome 1' SubClassOf 'popliteal pterygium syndrome' 'Bartsocas-Papas syndrome 1' SubClassOf 'hereditary lethal multiple congenital anomalies/dysmorphic syndrome' 'Bartsocas-Papas syndrome 1' SubClassOf 'ectodermal dysplasia syndrome' 'Bartsocas-Papas syndrome 1' SubClassOf 'popliteal pterygium syndrome' http://purl.obolibrary.org/obo/MONDO_0009900 polysyndactyly-cardiac malformation syndrome 'polysyndactyly-cardiac malformation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'polysyndactyly-cardiac malformation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009908 pterin-4 alpha-carbinolamine dehydratase 1 deficiency 'pterin-4 alpha-carbinolamine dehydratase 1 deficiency' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' 'pterin-4 alpha-carbinolamine dehydratase 1 deficiency' SubClassOf 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' http://purl.obolibrary.org/obo/MONDO_0009917 autosomal recessive pseudohypoaldosteronism type 1 'autosomal recessive pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' 'autosomal recessive pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' http://purl.obolibrary.org/obo/MONDO_0010906 orofacial cleft 11 'orofacial cleft 11' SubClassOf 'cleft lip/palate' 'orofacial cleft 11' SubClassOf 'cleft lip/palate' http://purl.obolibrary.org/obo/MONDO_0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf '46,XY disorder of sex development' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0009915 46,XX disorder of sex development-skeletal anomalies syndrome '46,XX disorder of sex development-skeletal anomalies syndrome' SubClassOf '46,XX disorder of sex development' '46,XX disorder of sex development-skeletal anomalies syndrome' SubClassOf '46,XX disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0010908 loose anagen syndrome 'loose anagen syndrome' SubClassOf 'alopecia' 'loose anagen syndrome' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0009914 pseudodiastrophic dysplasia 'pseudodiastrophic dysplasia' SubClassOf 'skeletal dysplasia' 'pseudodiastrophic dysplasia' SubClassOf 'developmental defect during embryogenesis' 'pseudodiastrophic dysplasia' SubClassOf 'skeletal dysplasia' 'pseudodiastrophic dysplasia' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0010907 familial hypertryptophanemia 'familial hypertryptophanemia' SubClassOf 'inborn disorder of tryptophan metabolism' 'familial hypertryptophanemia' SubClassOf 'inborn disorder of tryptophan metabolism' http://purl.obolibrary.org/obo/MONDO_0010909 UV-sensitive syndrome 1 'UV-sensitive syndrome 1' SubClassOf 'UV-sensitive syndrome' 'UV-sensitive syndrome 1' SubClassOf 'UV-sensitive syndrome' http://purl.obolibrary.org/obo/MONDO_0009910 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'progeria' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'syndromic disease' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'hereditary lipodystrophy' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'progeria' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'syndromic disease' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'hereditary lipodystrophy' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'osteogenesis imperfecta and a reduction of bone mineral density.' http://purl.obolibrary.org/obo/MONDO_0010902 spondyloepiphyseal dysplasia, Reardon type 'spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia, Reardon type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009919 peroxisomal acyl-CoA oxidase deficiency 'peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' 'peroxisomal acyl-CoA oxidase deficiency' SubClassOf 'disorder of peroxisomal beta oxidation' http://purl.obolibrary.org/obo/MONDO_0009928 pulmonary alveolar microlithiasis 'pulmonary alveolar microlithiasis' SubClassOf 'lung disease' 'pulmonary alveolar microlithiasis' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/MONDO_0010916 polycystic kidney disease 3 with or without polycystic liver disease 'polycystic kidney disease 3 with or without polycystic liver disease' SubClassOf 'Autosomal dominant polycystic kidney disease' 'polycystic kidney disease 3 with or without polycystic liver disease' SubClassOf 'Autosomal dominant polycystic kidney disease' http://purl.obolibrary.org/obo/MONDO_0009926 autosomal recessive multiple pterygium syndrome 'autosomal recessive multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'syndromic disease' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010919 varicella, severe recurrent 'varicella, severe recurrent' SubClassOf 'genetic disorder' 'varicella, severe recurrent' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'autosomal recessive disease' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'inherited pseudoxanthoma elasticum' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'autosomal recessive disease' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'inherited pseudoxanthoma elasticum' http://purl.obolibrary.org/obo/MONDO_0009924 vitamin D-dependent rickets, type 1 'vitamin D-dependent rickets, type 1' SubClassOf 'hypocalcemic rickets' 'vitamin D-dependent rickets, type 1' SubClassOf 'vitamin D-dependent rickets' 'vitamin D-dependent rickets, type 1' SubClassOf 'hypocalcemic rickets' 'vitamin D-dependent rickets, type 1' SubClassOf 'vitamin D-dependent rickets' http://purl.obolibrary.org/obo/MONDO_0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'inherited lipid metabolism disorder' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf '46,XY disorder of sex development' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'inherited lipid metabolism disorder' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf '46,XY disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0009921 holoprosencephaly-postaxial polydactyly syndrome 'holoprosencephaly-postaxial polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'holoprosencephaly-postaxial polydactyly syndrome' SubClassOf 'syndromic disease' 'holoprosencephaly-postaxial polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'holoprosencephaly-postaxial polydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009920 Acrootoocular syndrome 'Acrootoocular syndrome' SubClassOf 'syndromic disease' 'Acrootoocular syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010912 fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement 'fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement' SubClassOf 'TUBB3-related tubulinopathy' 'fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement' SubClassOf 'congenital fibrosis of extraocular muscles' 'fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement' SubClassOf 'TUBB3-related tubulinopathy' 'fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement' SubClassOf 'congenital fibrosis of extraocular muscles' http://purl.obolibrary.org/obo/MONDO_0010915 autosomal dominant nonsyndromic hearing loss 4A 'autosomal dominant nonsyndromic hearing loss 4A' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 4A' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010914 carnitine palmitoyl transferase II deficiency, severe infantile form 'carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'carnitine palmitoyltransferase II deficiency' 'carnitine palmitoyl transferase II deficiency, severe infantile form' SubClassOf 'carnitine palmitoyltransferase II deficiency' http://purl.obolibrary.org/obo/MONDO_0009929 surfactant metabolism dysfunction, pulmonary, 1 'surfactant metabolism dysfunction, pulmonary, 1' SubClassOf 'hereditary pulmonary alveolar proteinosis' 'surfactant metabolism dysfunction, pulmonary, 1' SubClassOf 'hereditary pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0009937 pulmonary venoocclusive disease 'pulmonary venoocclusive disease' SubClassOf 'lung disease' 'pulmonary venoocclusive disease' SubClassOf 'vascular disease' 'pulmonary venoocclusive disease' SubClassOf 'lung disease' 'pulmonary venoocclusive disease' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0009936 familial primary pulmonary hypoplasia 'familial primary pulmonary hypoplasia' SubClassOf 'disorder of development or morphogenesis' 'familial primary pulmonary hypoplasia' SubClassOf 'respiratory system disease' 'familial primary pulmonary hypoplasia' SubClassOf 'disorder of development or morphogenesis' 'familial primary pulmonary hypoplasia' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010929 craniosynostosis 4 'craniosynostosis 4' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis 4' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0009935 pulmonary hypertension, primary, autosomal recessive 'pulmonary hypertension, primary, autosomal recessive' SubClassOf 'primary pulmonary hypertension' 'pulmonary hypertension, primary, autosomal recessive' SubClassOf 'primary pulmonary hypertension' http://purl.obolibrary.org/obo/MONDO_0009934 alveolar capillary dysplasia with misalignment of pulmonary veins 'alveolar capillary dysplasia with misalignment of pulmonary veins' SubClassOf 'congenital pulmonary veins anomaly' 'alveolar capillary dysplasia with misalignment of pulmonary veins' SubClassOf 'primary interstitial lung disease specific to childhood' 'alveolar capillary dysplasia with misalignment of pulmonary veins' SubClassOf 'congenital pulmonary veins anomaly' 'alveolar capillary dysplasia with misalignment of pulmonary veins' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0009933 congenital pulmonary lymphangiectasia 'congenital pulmonary lymphangiectasia' SubClassOf 'primary lymphedema' 'congenital pulmonary lymphangiectasia' SubClassOf 'lymphangiectasis' 'congenital pulmonary lymphangiectasia' SubClassOf 'respiratory system disease' 'congenital pulmonary lymphangiectasia' SubClassOf 'primary lymphedema' 'congenital pulmonary lymphangiectasia' SubClassOf 'lymphangiectasis' 'congenital pulmonary lymphangiectasia' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0010920 microtia 'microtia' SubClassOf 'developmental defect during embryogenesis' 'microtia' SubClassOf 'otorhinolaryngologic disease' 'microtia' SubClassOf 'developmental defect during embryogenesis' 'microtia' SubClassOf 'otorhinolaryngologic disease' http://www.ebi.ac.uk/efo/EFO_1001831 pseudolymphoma 'pseudolymphoma' SubClassOf 'lymphatic system disease' 'pseudolymphoma' SubClassOf 'lymphatic system disease' http://www.ebi.ac.uk/efo/EFO_1001830 precursor T-cell lymphoblastic leukemia-lymphoma 'precursor T-cell lymphoblastic leukemia-lymphoma' SubClassOf 'acute lymphoblastic leukemia' 'precursor T-cell lymphoblastic leukemia-lymphoma' SubClassOf 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0010924 D-2-hydroxyglutaric aciduria 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0010926 familial hypocalciuric hypercalcemia 3 'familial hypocalciuric hypercalcemia 3' SubClassOf 'familial hypocalciuric hypercalcemia' 'familial hypocalciuric hypercalcemia 3' SubClassOf 'familial hypocalciuric hypercalcemia' http://purl.obolibrary.org/obo/MONDO_0010925 velo-facial-skeletal syndrome 'velo-facial-skeletal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'velo-facial-skeletal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001838 renal nutcracker syndrome 'renal nutcracker syndrome' SubClassOf 'kidney disease' 'renal nutcracker syndrome' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001835 pyelocystitis 'pyelocystitis' SubClassOf 'cystitis' 'pyelocystitis' SubClassOf 'pyelitis' 'pyelocystitis' SubClassOf 'cystitis' 'pyelocystitis' SubClassOf 'pyelitis' http://purl.obolibrary.org/obo/MONDO_0010938 T-B+ severe combined immunodeficiency due to JAK3 deficiency 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'familial severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'familial severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to JAK3 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009948 pyropoikilocytosis, hereditary 'pyropoikilocytosis, hereditary' SubClassOf 'genetic disorder' 'pyropoikilocytosis, hereditary' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009947 glutathione synthetase deficiency with 5-oxoprolinuria 'glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' 'glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' http://purl.obolibrary.org/obo/MONDO_0009946 hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 'hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' 'hemolytic anemia due to pyrimidine 5' nucleotidase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009945 pyridoxine-dependent epilepsy 'pyridoxine-dependent epilepsy' SubClassOf 'inborn disorder of pyridoxine metabolism' 'pyridoxine-dependent epilepsy' SubClassOf 'metabolic epilepsy' 'pyridoxine-dependent epilepsy' SubClassOf 'inborn disorder of pyridoxine metabolism' 'pyridoxine-dependent epilepsy' SubClassOf 'metabolic epilepsy' http://purl.obolibrary.org/obo/MONDO_0009943 Pyle disease 'Pyle disease' SubClassOf 'skeletal dysplasia' 'Pyle disease' SubClassOf 'osteochondrodysplasia' 'Pyle disease' SubClassOf 'skeletal dysplasia' 'Pyle disease' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0009942 pyknoachondrogenesis 'pyknoachondrogenesis' SubClassOf 'skeletal dysplasia' 'pyknoachondrogenesis' SubClassOf 'osteochondrodysplasia' 'pyknoachondrogenesis' SubClassOf 'skeletal dysplasia' 'pyknoachondrogenesis' SubClassOf 'osteochondrodysplasia' http://www.ebi.ac.uk/efo/EFO_1001842 Serotonin Syndrome 'Serotonin Syndrome' SubClassOf 'nervous system disease' 'Serotonin Syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0010930 anophthalmia plus syndrome 'anophthalmia plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anophthalmia plus syndrome' SubClassOf 'syndromic disease' 'anophthalmia plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anophthalmia plus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009940 pycnodysostosis 'pycnodysostosis' SubClassOf 'lysosomal storage disease' 'pycnodysostosis' SubClassOf 'osteopetrosis' 'pycnodysostosis' SubClassOf 'osteochondrodysplasia' 'pycnodysostosis' SubClassOf 'lysosomal storage disease' 'pycnodysostosis' SubClassOf 'osteopetrosis' 'pycnodysostosis' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0010933 autosomal recessive nonsyndromic hearing loss 4 'autosomal recessive nonsyndromic hearing loss 4' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 4' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0010932 progressive bifocal chorioretinal atrophy 'progressive bifocal chorioretinal atrophy' SubClassOf 'inherited retinal dystrophy' 'progressive bifocal chorioretinal atrophy' SubClassOf 'inherited retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_1001849 staphylococcal skin infections 'staphylococcal skin infections' SubClassOf 'bacterial disease' 'staphylococcal skin infections' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0010949 Charcot-Marie-Tooth disease type 2B 'Charcot-Marie-Tooth disease type 2B' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2B' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0009959 peroxisome biogenesis disorder type 3B 'peroxisome biogenesis disorder type 3B' SubClassOf 'peroxisome biogenesis disorder due to PEX12 defect' 'peroxisome biogenesis disorder type 3B' SubClassOf 'peroxisome biogenesis disorder due to PEX12 defect' http://purl.obolibrary.org/obo/MONDO_0009958 adult Refsum disease 'adult Refsum disease' SubClassOf 'disease has major feature' some 'Leukoencephalopathy' 'adult Refsum disease' SubClassOf 'phytanoyl-CoA hydroxylase deficiency' 'adult Refsum disease' SubClassOf 'phytanoyl-CoA hydroxylase deficiency' 'adult Refsum disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Leukoencephalopathy' http://purl.obolibrary.org/obo/MONDO_0009955 rapadilino syndrome 'rapadilino syndrome' SubClassOf 'non-syndromic limb reduction defect' 'rapadilino syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'rapadilino syndrome' SubClassOf 'autosomal recessive disease' 'rapadilino syndrome' SubClassOf 'non-syndromic limb reduction defect' 'rapadilino syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'rapadilino syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009954 Ramon syndrome 'Ramon syndrome' SubClassOf 'genetic disorder' 'Ramon syndrome' SubClassOf 'musculoskeletal system disease' 'Ramon syndrome' SubClassOf 'genetic disorder' 'Ramon syndrome' SubClassOf 'musculoskeletal system disease' http://www.ebi.ac.uk/efo/EFO_1001853 submandibular gland neoplasm 'submandibular gland neoplasm' SubClassOf 'neoplasm of major salivary gland' 'submandibular gland neoplasm' SubClassOf 'neoplasm of major salivary gland' http://purl.obolibrary.org/obo/MONDO_0009953 leukocyte adhesion deficiency type II 'leukocyte adhesion deficiency type II' SubClassOf 'leukocyte adhesion deficiency' 'leukocyte adhesion deficiency type II' SubClassOf 'congenital disorder of glycosylation type II' 'leukocyte adhesion deficiency type II' SubClassOf 'disorder of multiple glycosylation' 'leukocyte adhesion deficiency type II' SubClassOf 'leukocyte adhesion deficiency' 'leukocyte adhesion deficiency type II' SubClassOf 'disorder of multiple glycosylation' 'leukocyte adhesion deficiency type II' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0009952 radioulnar synostosis-developmental delay-hypotonia syndrome 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'developmental disability' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'developmental disability' http://purl.obolibrary.org/obo/MONDO_0009950 pyruvate kinase deficiency of red cells 'pyruvate kinase deficiency of red cells' SubClassOf 'disorder of glycolysis' 'pyruvate kinase deficiency of red cells' SubClassOf 'congenital nonspherocytic hemolytic anemia' 'pyruvate kinase deficiency of red cells' SubClassOf 'disorder of glycolysis' 'pyruvate kinase deficiency of red cells' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0010943 schizophrenia 4 'schizophrenia 4' SubClassOf 'schizophrenia, susceptibility to' 'schizophrenia 4' SubClassOf 'schizophrenia, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0010946 hypertrophic cardiomyopathy 6 'hypertrophic cardiomyopathy 6' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 6' SubClassOf 'PRKAG2-related cardiomyopathy' 'hypertrophic cardiomyopathy 6' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 6' SubClassOf 'PRKAG2-related cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1001857 Takayasu arteritis 'Takayasu arteritis' SubClassOf 'Arteritis' 'Takayasu arteritis' SubClassOf 'aortic arch defects' 'Takayasu arteritis' SubClassOf 'syndromic disease' 'Takayasu arteritis' SubClassOf 'Arteritis' 'Takayasu arteritis' SubClassOf 'aortic arch defects' 'Takayasu arteritis' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001856 Susac Syndrome 'Susac Syndrome' SubClassOf 'syndromic disease' 'Susac Syndrome' SubClassOf 'type II hypersensitivity reaction disease' 'Susac Syndrome' SubClassOf 'syndromic disease' 'Susac Syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0010940 inherited susceptibility to asthma 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'asthma') 'inherited susceptibility to asthma' SubClassOf 'predisposes towards' some 'asthma' 'inherited susceptibility to asthma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'asthma' 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'asthma') http://purl.obolibrary.org/obo/MONDO_0009969 renal-genital-middle ear anomalies 'renal-genital-middle ear anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'renal-genital-middle ear anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009968 renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss 'renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss' SubClassOf 'autosomal recessive distal renal tubular acidosis' 'renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss' SubClassOf 'autosomal recessive distal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome 'NPHP3-related Meckel-like syndrome' SubClassOf 'Meckel syndrome' 'NPHP3-related Meckel-like syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'NPHP3-related Meckel-like syndrome' SubClassOf 'Meckel syndrome' 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009965 Perlman syndrome 'Perlman syndrome' SubClassOf 'syndromic disease' 'Perlman syndrome' SubClassOf 'overgrowth syndrome' 'Perlman syndrome' SubClassOf 'syndromic disease' 'Perlman syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'acromelic dysplasia' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'IFT140-related recessive ciliopathy' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'acromelic dysplasia' 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf 'IFT140-related recessive ciliopathy' http://purl.obolibrary.org/obo/MONDO_0010953 Fanconi anemia complementation group E 'Fanconi anemia complementation group E' SubClassOf 'Fanconi anemia' 'Fanconi anemia complementation group E' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0009963 Ulbright-Hodes syndrome 'Ulbright-Hodes syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ulbright-Hodes syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009962 Senior-Loken syndrome 1 'Senior-Loken syndrome 1' SubClassOf 'Senior-Loken syndrome' 'Senior-Loken syndrome 1' SubClassOf 'Senior-Loken syndrome' http://purl.obolibrary.org/obo/MONDO_0009960 inflammatory bowel disease 1 'inflammatory bowel disease 1' SubClassOf 'inflammatory bowel disease' 'inflammatory bowel disease 1' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0010959 van den Ende-Gupta syndrome 'van den Ende-Gupta syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'van den Ende-Gupta syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'van den Ende-Gupta syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'van den Ende-Gupta syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001869 dysentery 'dysentery' SubClassOf 'intestinal infectious disease' 'dysentery' SubClassOf 'intestinal infectious disease' http://www.ebi.ac.uk/efo/EFO_1001868 congenital contractures of the limbs and face, hypotonia, and developmental delay 'congenital contractures of the limbs and face, hypotonia, and developmental delay' SubClassOf 'genetic disorder' 'congenital contractures of the limbs and face, hypotonia, and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009979 reticular dystrophy of the retinal pigment epithelium 'reticular dystrophy of the retinal pigment epithelium' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' 'reticular dystrophy of the retinal pigment epithelium' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' http://purl.obolibrary.org/obo/MONDO_0009978 retinal degeneration-nanophthalmos-glaucoma syndrome 'retinal degeneration-nanophthalmos-glaucoma syndrome' SubClassOf 'inherited retinal dystrophy' 'retinal degeneration-nanophthalmos-glaucoma syndrome' SubClassOf 'inherited retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_1001875 amyloidosis 'amyloidosis' SubClassOf 'proteostasis deficiencies' 'amyloidosis' SubClassOf 'proteostasis deficiencies' http://purl.obolibrary.org/obo/MONDO_0009974 familial hemophagocytic lymphohistiocytosis type 1 'familial hemophagocytic lymphohistiocytosis type 1' SubClassOf 'hereditary hemophagocytic lymphohistiocytosis' 'familial hemophagocytic lymphohistiocytosis type 1' SubClassOf 'hereditary hemophagocytic lymphohistiocytosis' http://www.ebi.ac.uk/efo/EFO_0001421 liver disease 'liver disease' SubClassOf 'hepatobiliary disease' 'liver disease' SubClassOf 'hepatobiliary disease' http://purl.obolibrary.org/obo/MONDO_0009973 reticular dysgenesis 'reticular dysgenesis' SubClassOf 'familial severe combined immunodeficiency' 'reticular dysgenesis' SubClassOf 'T-B- severe combined immunodeficiency' 'reticular dysgenesis' SubClassOf 'familial severe combined immunodeficiency' 'reticular dysgenesis' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0010966 achondrogenesis type IB 'achondrogenesis type IB' SubClassOf 'mineral metabolism disease' 'achondrogenesis type IB' SubClassOf 'achondrogenesis' 'achondrogenesis type IB' SubClassOf 'mineral metabolism disease' 'achondrogenesis type IB' SubClassOf 'achondrogenesis' http://www.ebi.ac.uk/efo/EFO_1001873 AIDS phobia 'AIDS phobia' SubClassOf 'nosophobia' 'AIDS phobia' SubClassOf 'nosophobia' http://www.ebi.ac.uk/efo/EFO_1001872 agoraphobia 'agoraphobia' SubClassOf 'phobic disorder' 'agoraphobia' SubClassOf 'phobic disorder' http://www.ebi.ac.uk/efo/EFO_0001423 encephalomyelitis 'encephalomyelitis' SubClassOf 'inflammatory disease' 'encephalomyelitis' SubClassOf 'central nervous system disease' 'encephalomyelitis' SubClassOf 'inflammatory disease' 'encephalomyelitis' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0009971 respiratory distress syndrome in premature infants 'respiratory distress syndrome in premature infants' SubClassOf 'newborn respiratory distress syndrome' 'respiratory distress syndrome in premature infants' SubClassOf 'newborn respiratory distress syndrome' http://www.ebi.ac.uk/efo/EFO_0001422 cirrhosis of liver 'cirrhosis of liver' SubClassOf 'liver disease' 'cirrhosis of liver' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis of genetic origin 'renal tubular dysgenesis of genetic origin' SubClassOf 'renal tubular dysgenesis' 'renal tubular dysgenesis of genetic origin' SubClassOf 'disorder of development or morphogenesis' 'renal tubular dysgenesis of genetic origin' SubClassOf 'renal tubular dysgenesis' 'renal tubular dysgenesis of genetic origin' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010967 autosomal recessive nonsyndromic hearing loss 7 'autosomal recessive nonsyndromic hearing loss 7' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 7' SubClassOf 'hearing loss, autosomal recessive' http://www.ebi.ac.uk/efo/EFO_1001879 cancerophobia 'cancerophobia' SubClassOf 'nosophobia' 'cancerophobia' SubClassOf 'nosophobia' http://purl.obolibrary.org/obo/MONDO_0010962 diffuse nonepidermolytic palmoplantar keratoderma 'diffuse nonepidermolytic palmoplantar keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' 'diffuse nonepidermolytic palmoplantar keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0010961 obesity due to prohormone convertase I deficiency 'obesity due to prohormone convertase I deficiency' SubClassOf 'congenital hypogonadotropic hypogonadism' 'obesity due to prohormone convertase I deficiency' SubClassOf 'congenital hypogonadotropic hypogonadism' http://www.ebi.ac.uk/efo/EFO_1001876 animal phobia 'animal phobia' SubClassOf 'specific phobia' 'animal phobia' SubClassOf 'specific phobia' http://purl.obolibrary.org/obo/MONDO_0009985 retinohepatoendocrinologic syndrome 'retinohepatoendocrinologic syndrome' SubClassOf 'polyendocrinopathy' 'retinohepatoendocrinologic syndrome' SubClassOf 'polyendocrinopathy' http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy 'Brody myopathy' SubClassOf 'myopathy' 'Brody myopathy' SubClassOf 'qualitative or quantitative defects of protein SERCA1' 'Brody myopathy' SubClassOf 'myopathy' 'Brody myopathy' SubClassOf 'qualitative or quantitative defects of protein SERCA1' http://purl.obolibrary.org/obo/MONDO_0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome' SubClassOf 'genetic disorder' 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome' SubClassOf 'syndromic disease' 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome' SubClassOf 'genetic disorder' 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 'epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0010979 Timothy syndrome 'Timothy syndrome' SubClassOf 'autosomal dominant disease' 'Timothy syndrome' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_1001882 cutaneous nodular amyloidosis 'cutaneous nodular amyloidosis' SubClassOf 'primary cutaneous amyloidosis' 'cutaneous nodular amyloidosis' SubClassOf 'primary cutaneous amyloidosis' http://www.ebi.ac.uk/efo/EFO_1001881 cold urticaria 'cold urticaria' SubClassOf 'urticaria' 'cold urticaria' SubClassOf 'urticaria' http://www.ebi.ac.uk/efo/EFO_0001416 cervical adenocarcinoma 'cervical adenocarcinoma' SubClassOf 'adenocarcinoma' 'cervical adenocarcinoma' SubClassOf 'cervical carcinoma' 'cervical adenocarcinoma' SubClassOf 'adenocarcinoma' 'cervical adenocarcinoma' SubClassOf 'cervical carcinoma' http://purl.obolibrary.org/obo/MONDO_0019309 late-onset junctional epidermolysis bullosa 'late-onset junctional epidermolysis bullosa' SubClassOf 'junctional epidermolysis bullosa' 'late-onset junctional epidermolysis bullosa' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0019308 junctional epidermolysis bullosa inversa 'junctional epidermolysis bullosa inversa' SubClassOf 'junctional epidermolysis bullosa' 'junctional epidermolysis bullosa inversa' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0010971 infundibulopelvic stenosis-multicystic kidney syndrome 'infundibulopelvic stenosis-multicystic kidney syndrome' SubClassOf 'syndromic disease' 'infundibulopelvic stenosis-multicystic kidney syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 'cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies' SubClassOf 'genetic disorder' 'cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001889 flying phobia 'flying phobia' SubClassOf 'specific phobia' 'flying phobia' SubClassOf 'specific phobia' http://purl.obolibrary.org/obo/MONDO_0019307 generalized junctional epidermolysis bullosa non-Herlitz type 'generalized junctional epidermolysis bullosa non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa, non-Herlitz type' 'generalized junctional epidermolysis bullosa non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa, non-Herlitz type' http://purl.obolibrary.org/obo/MONDO_0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome 'hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0019306 congenital non-bullous ichthyosiform erythroderma 'congenital non-bullous ichthyosiform erythroderma' SubClassOf 'autosomal recessive disease' 'congenital non-bullous ichthyosiform erythroderma' SubClassOf 'autosomal recessive congenital ichthyosis' 'congenital non-bullous ichthyosiform erythroderma' SubClassOf 'autosomal recessive disease' 'congenital non-bullous ichthyosiform erythroderma' SubClassOf 'autosomal recessive congenital ichthyosis' http://www.ebi.ac.uk/efo/EFO_1001887 epicondylitis 'epicondylitis' SubClassOf 'inflammatory disease' 'epicondylitis' SubClassOf 'bone inflammation disease' 'epicondylitis' SubClassOf 'inflammatory disease' 'epicondylitis' SubClassOf 'bone inflammation disease' http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome 'autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' 'autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' http://purl.obolibrary.org/obo/MONDO_0009998 Richieri Costa-Pereira syndrome 'Richieri Costa-Pereira syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-Pereira syndrome' SubClassOf 'skeletal dysplasia' 'Richieri Costa-Pereira syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-Pereira syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010986 autosomal recessive nonsyndromic hearing loss 9 'autosomal recessive nonsyndromic hearing loss 9' SubClassOf 'auditory neuropathy' 'autosomal recessive nonsyndromic hearing loss 9' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 9' SubClassOf 'auditory neuropathy' 'autosomal recessive nonsyndromic hearing loss 9' SubClassOf 'hearing loss, autosomal recessive' http://www.ebi.ac.uk/efo/EFO_1001897 Morvan syndrome 'Morvan syndrome' SubClassOf 'muscular channelopathy' 'Morvan syndrome' SubClassOf 'muscular channelopathy' http://purl.obolibrary.org/obo/MONDO_0009996 rhizomelic syndrome, Urbach type 'rhizomelic syndrome, Urbach type' SubClassOf 'skeletal dysplasia' 'rhizomelic syndrome, Urbach type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010988 aplasia cutis-myopia syndrome 'aplasia cutis-myopia syndrome' SubClassOf 'aplasia cutis congenita' 'aplasia cutis-myopia syndrome' SubClassOf 'aplasia cutis congenita' http://purl.obolibrary.org/obo/MONDO_0020310 familial focal epilepsy with variable foci 'familial focal epilepsy with variable foci' SubClassOf 'familial partial epilepsy' 'familial focal epilepsy with variable foci' SubClassOf 'variable age onset epilepsy' 'familial focal epilepsy with variable foci' SubClassOf 'familial partial epilepsy' 'familial focal epilepsy with variable foci' SubClassOf 'variable age onset epilepsy' http://purl.obolibrary.org/obo/MONDO_0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' http://www.ebi.ac.uk/efo/EFO_1001892 generalized anxiety disorder 'generalized anxiety disorder' SubClassOf 'anxiety disorder' 'generalized anxiety disorder' SubClassOf 'anxiety disorder' http://purl.obolibrary.org/obo/MONDO_0009990 Revesz syndrome 'Revesz syndrome' SubClassOf 'dyskeratosis congenita' 'Revesz syndrome' SubClassOf 'inherited retinal dystrophy' 'Revesz syndrome' SubClassOf 'dyskeratosis congenita' 'Revesz syndrome' SubClassOf 'inherited retinal dystrophy' http://www.ebi.ac.uk/efo/EFO_1001890 food allergy 'food allergy' SubClassOf 'allergic disease' 'food allergy' SubClassOf 'allergic disease' http://purl.obolibrary.org/obo/MONDO_0010981 absent tibia-polydactyly-arachnoid cyst syndrome 'absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001899 muscular channelopathy 'muscular channelopathy' SubClassOf 'neuromuscular disease' 'muscular channelopathy' SubClassOf 'neuromuscular disease' http://purl.obolibrary.org/obo/MONDO_0010983 dystonia 9 'dystonia 9' SubClassOf 'paroxysmal dystonia' 'dystonia 9' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'dystonia 9' SubClassOf 'paroxysmal dystonia' 'dystonia 9' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0019317 follicular atrophoderma-basal cell carcinoma 'follicular atrophoderma-basal cell carcinoma' SubClassOf 'Bazex-Dupre-Christol syndrome' 'follicular atrophoderma-basal cell carcinoma' SubClassOf 'Bazex-Dupre-Christol syndrome' http://purl.obolibrary.org/obo/MONDO_0019312 Hermansky-Pudlak syndrome 'Hermansky-Pudlak syndrome' SubClassOf 'inherited blood coagulation disorder' 'Hermansky-Pudlak syndrome' SubClassOf 'syndromic oculocutaneous albinism' 'Hermansky-Pudlak syndrome' SubClassOf 'disorder of lysosomal-related organelles' 'Hermansky-Pudlak syndrome' SubClassOf 'inherited blood coagulation disorder' 'Hermansky-Pudlak syndrome' SubClassOf 'syndromic oculocutaneous albinism' 'Hermansky-Pudlak syndrome' SubClassOf 'disorder of lysosomal-related organelles' http://purl.obolibrary.org/obo/MONDO_0019313 lymphatic malformation 'lymphatic malformation' SubClassOf 'primary lymphedema' 'lymphatic malformation' SubClassOf 'vascular disease' 'lymphatic malformation' SubClassOf 'genetic disorder' 'lymphatic malformation' SubClassOf 'primary lymphedema' 'lymphatic malformation' SubClassOf 'vascular disease' 'lymphatic malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019310 recessive dystrophic epidermolysis bullosa inversa 'recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'recessive dystrophic epidermolysis bullosa' 'recessive dystrophic epidermolysis bullosa inversa' SubClassOf 'recessive dystrophic epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0010997 supranuclear palsy, progressive, 1 'supranuclear palsy, progressive, 1' SubClassOf 'progressive supranuclear palsy' 'supranuclear palsy, progressive, 1' SubClassOf 'progressive supranuclear palsy' http://purl.obolibrary.org/obo/MONDO_0020301 Prader-Willi syndrome due to paternal 15q11q13 deletion 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'partial deletion of the long arm of chromosome 15' 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'partial deletion of the long arm of chromosome 15' 'Prader-Willi syndrome due to paternal 15q11q13 deletion' SubClassOf 'Prader-Willi syndrome' http://purl.obolibrary.org/obo/MONDO_0020300 autosomal dominant nocturnal frontal lobe epilepsy 'autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'familial partial epilepsy' 'autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'frontal lobe epilepsy' 'autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'familial partial epilepsy' 'autosomal dominant nocturnal frontal lobe epilepsy' SubClassOf 'frontal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0010999 fallot complex-intellectual disability-growth delay syndrome 'fallot complex-intellectual disability-growth delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'fallot complex-intellectual disability-growth delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010998 ALG3-congenital disorder of glycosylation 'ALG3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG3-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'ALG3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG3-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' http://purl.obolibrary.org/obo/MONDO_0020308 benign childhood occipital epilepsy, Gastaut type 'benign childhood occipital epilepsy, Gastaut type' SubClassOf 'childhood-onset epilepsy syndrome' 'benign childhood occipital epilepsy, Gastaut type' SubClassOf 'benign occipital epilepsy' 'benign childhood occipital epilepsy, Gastaut type' SubClassOf 'childhood-onset epilepsy syndrome' 'benign childhood occipital epilepsy, Gastaut type' SubClassOf 'benign occipital epilepsy' http://purl.obolibrary.org/obo/MONDO_0020307 benign childhood occipital epilepsy, Panayiotopoulos type 'benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'childhood-onset epilepsy syndrome' 'benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'benign occipital epilepsy' 'benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'childhood-onset epilepsy syndrome' 'benign childhood occipital epilepsy, Panayiotopoulos type' SubClassOf 'benign occipital epilepsy' http://purl.obolibrary.org/obo/MONDO_0010993 Harrod syndrome 'Harrod syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Harrod syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019327 phakomatosis spilorosea 'phakomatosis spilorosea' SubClassOf 'phakomatosis pigmentovascularis' 'phakomatosis spilorosea' SubClassOf 'phakomatosis pigmentovascularis' http://purl.obolibrary.org/obo/MONDO_0020305 isochromosomy Yq 'isochromosomy Yq' SubClassOf 'isochromosome Y' 'isochromosomy Yq' SubClassOf 'isochromosome Y' http://purl.obolibrary.org/obo/MONDO_0019326 phakomatosis cesiomarmorata 'phakomatosis cesiomarmorata' SubClassOf 'phakomatosis pigmentovascularis' 'phakomatosis cesiomarmorata' SubClassOf 'phakomatosis pigmentovascularis' http://purl.obolibrary.org/obo/MONDO_0020304 isochromosomy Yp 'isochromosomy Yp' SubClassOf 'isochromosome Y' 'isochromosomy Yp' SubClassOf 'isochromosome Y' http://purl.obolibrary.org/obo/MONDO_0010995 Charcot-Marie-Tooth disease type 1C 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'Charcot-Marie-Tooth disease type 1' 'Charcot-Marie-Tooth disease type 1C' SubClassOf 'Charcot-Marie-Tooth disease type 1' http://purl.obolibrary.org/obo/MONDO_0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'uniparental disomy' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'Angelman syndrome' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'uniparental disomy' 'Angelman syndrome due to paternal uniparental disomy of chromosome 15' SubClassOf 'Angelman syndrome' http://purl.obolibrary.org/obo/MONDO_0020302 Angelman syndrome due to maternal 15q11q13 deletion 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'Angelman syndrome' 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'partial deletion of the long arm of chromosome 15' 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'Angelman syndrome' 'Angelman syndrome due to maternal 15q11q13 deletion' SubClassOf 'partial deletion of the long arm of chromosome 15' http://purl.obolibrary.org/obo/MONDO_0019325 phakomatosis cesioflammea 'phakomatosis cesioflammea' SubClassOf 'phakomatosis pigmentovascularis' 'phakomatosis cesioflammea' SubClassOf 'phakomatosis pigmentovascularis' http://purl.obolibrary.org/obo/MONDO_0019321 atypical Werner syndrome 'atypical Werner syndrome' SubClassOf 'laminopathy' 'atypical Werner syndrome' SubClassOf 'disorder of development or morphogenesis' 'atypical Werner syndrome' SubClassOf 'laminopathy' 'atypical Werner syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0034976 iatrogenic Creutzfeldt-Jakob disease 'iatrogenic Creutzfeldt-Jakob disease' SubClassOf 'acquired Creutzfeldt-Jakob disease' 'iatrogenic Creutzfeldt-Jakob disease' SubClassOf 'acquired Creutzfeldt-Jakob disease' http://purl.obolibrary.org/obo/MONDO_0044303 congenital heart defects and ectodermal dysplasia 'congenital heart defects and ectodermal dysplasia' SubClassOf 'genetic disorder' 'congenital heart defects and ectodermal dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044302 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder 'congenital heart defects, dysmorphic facial features, and intellectual developmental disorder' SubClassOf 'genetic disorder' 'congenital heart defects, dysmorphic facial features, and intellectual developmental disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019338 sarcoidosis 'sarcoidosis' SubClassOf 'autoinflammatory syndrome' 'sarcoidosis' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0020338 adult pure red cell aplasia 'adult pure red cell aplasia' SubClassOf 'primary acquired red cell aplasia' 'adult pure red cell aplasia' SubClassOf 'primary acquired red cell aplasia' http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 'congenital dyserythropoietic anemia type 1' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 1' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0020336 autosomal dominant Emery-Dreifuss muscular dystrophy 'autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'laminopathy' 'autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'Emery-Dreifuss muscular dystrophy' 'autosomal dominant Emery-Dreifuss muscular dystrophy' SubClassOf 'laminopathy' http://purl.obolibrary.org/obo/MONDO_0019339 47,XYY syndrome '47,XYY syndrome' SubClassOf 'trisomy' '47,XYY syndrome' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/MONDO_0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf 'monogenic epilepsy' 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019334 autosomal recessive hyperinsulinism due to Kir6.2 deficiency 'autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'diazoxide-resistant diffuse hyperinsulinism' 'autosomal recessive hyperinsulinism due to Kir6.2 deficiency' SubClassOf 'diazoxide-resistant diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0019333 autosomal recessive hyperinsulinism due to SUR1 deficiency 'autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'diazoxide-resistant diffuse hyperinsulinism' 'autosomal recessive hyperinsulinism due to SUR1 deficiency' SubClassOf 'diazoxide-resistant diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0019336 Gardner syndrome 'Gardner syndrome' SubClassOf 'classic familial adenomatous polyposis' 'Gardner syndrome' SubClassOf 'classic familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0019335 mild hyperphenylalaninemia 'mild hyperphenylalaninemia' SubClassOf 'phenylketonuria' 'mild hyperphenylalaninemia' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0019330 pili gemini 'pili gemini' SubClassOf 'hair anomaly' 'pili gemini' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0019332 punctate palmoplantar keratoderma type 1 'punctate palmoplantar keratoderma type 1' SubClassOf 'punctate palmoplantar keratoderma' 'punctate palmoplantar keratoderma type 1' SubClassOf 'punctate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0019350 hereditary spherocytosis 'hereditary spherocytosis' SubClassOf 'familial hemolytic anemia' 'hereditary spherocytosis' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0044312 immunoskeletal dysplasia with neurodevelopmental abnormalities 'immunoskeletal dysplasia with neurodevelopmental abnormalities' SubClassOf 'spondyloepiphyseal dysplasia' 'immunoskeletal dysplasia with neurodevelopmental abnormalities' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0044311 brachycephaly, trichomegaly, and developmental delay 'brachycephaly, trichomegaly, and developmental delay' SubClassOf 'genetic disorder' 'brachycephaly, trichomegaly, and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044313 intellectual disability, autosomal recessive 60 'intellectual disability, autosomal recessive 60' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 60' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044319 intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'monogenic epilepsy' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'monogenic epilepsy' http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome 'Sotos syndrome' SubClassOf 'partial deletion of the long arm of chromosome 5' 'Sotos syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Sotos syndrome' SubClassOf 'skeletal dysplasia' 'Sotos syndrome' SubClassOf 'syndromic disease' 'Sotos syndrome' SubClassOf 'partial deletion of the long arm of chromosome 5' 'Sotos syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Sotos syndrome' SubClassOf 'skeletal dysplasia' 'Sotos syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0044316 thrombocytopenia, anemia, and myelofibrosis 'thrombocytopenia, anemia, and myelofibrosis' SubClassOf 'genetic disorder' 'thrombocytopenia, anemia, and myelofibrosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044315 craniosynostosis 7 'craniosynostosis 7' SubClassOf 'predisposes towards' some 'craniosynostosis' 'craniosynostosis 7' SubClassOf 'inherited disease susceptibility' 'craniosynostosis 7' SubClassOf 'inherited disease susceptibility' 'craniosynostosis 7' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'Neurodevelopmental disorder' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0019347 peeling skin syndrome 'peeling skin syndrome' SubClassOf 'inherited ichthyosis' 'peeling skin syndrome' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0019346 sialidosis type 1 'sialidosis type 1' SubClassOf 'familial mucolipidosis' 'sialidosis type 1' SubClassOf 'sialidosis' 'sialidosis type 1' SubClassOf 'familial mucolipidosis' 'sialidosis type 1' SubClassOf 'sialidosis' http://purl.obolibrary.org/obo/MONDO_0019342 Seckel syndrome 'Seckel syndrome' SubClassOf 'autosomal recessive disease' 'Seckel syndrome' SubClassOf 'syndromic disease' 'Seckel syndrome' SubClassOf 'autosomal recessive disease' 'Seckel syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension 'pulmonary arterial hypertension' SubClassOf 'pulmonary hypertension' 'pulmonary arterial hypertension' SubClassOf 'pulmonary hypertension' http://purl.obolibrary.org/obo/MONDO_0020355 coloboma of eye lens 'coloboma of eye lens' SubClassOf 'coloboma' 'coloboma of eye lens' SubClassOf 'coloboma' http://www.ebi.ac.uk/efo/EFO_0001365 age-related macular degeneration 'age-related macular degeneration' SubClassOf 'degeneration of macula and posterior pole' 'age-related macular degeneration' SubClassOf 'degeneration of macula and posterior pole' http://purl.obolibrary.org/obo/MONDO_0020353 von Hippel anomaly 'von Hippel anomaly' SubClassOf 'Peters anomaly' 'von Hippel anomaly' SubClassOf 'Peters anomaly' http://purl.obolibrary.org/obo/MONDO_0020359 congenital symblepharon 'congenital symblepharon' SubClassOf 'isolated cryptophthalmia' 'congenital symblepharon' SubClassOf 'isolated cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0020357 coloboma of eyelid 'coloboma of eyelid' SubClassOf 'coloboma' 'coloboma of eyelid' SubClassOf 'coloboma' http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation 'urogenital tract malformation' SubClassOf 'developmental defect during embryogenesis' 'urogenital tract malformation' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0019358 encephalopathy due to sulfite oxidase deficiency 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0019354 Stickler syndrome 'Stickler syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Stickler syndrome' SubClassOf 'syndromic disease' 'Stickler syndrome' SubClassOf 'vitreoretinal degeneration' 'Stickler syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'Stickler syndrome' SubClassOf 'syndromic disease' 'Stickler syndrome' SubClassOf 'vitreoretinal degeneration' http://purl.obolibrary.org/obo/MONDO_0019353 Stargardt disease 'Stargardt disease' SubClassOf 'age-related macular degeneration' 'Stargardt disease' SubClassOf 'familial flecked retinopathy' 'Stargardt disease' SubClassOf 'age-related macular degeneration' 'Stargardt disease' SubClassOf 'familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0020344 postsynaptic congenital myasthenic syndrome 'postsynaptic congenital myasthenic syndrome' SubClassOf 'congenital myasthenic syndrome' 'postsynaptic congenital myasthenic syndrome' SubClassOf 'congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_0020341 periventricular nodular heterotopia 'periventricular nodular heterotopia' SubClassOf 'congenital nervous system disorder' 'periventricular nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' 'periventricular nodular heterotopia' SubClassOf 'congenital nervous system disorder' 'periventricular nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis 'sporadic amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'sporadic amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis 'familial amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'familial amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0020340 bilateral perisylvian polymicrogyria 'bilateral perisylvian polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral perisylvian polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://www.ebi.ac.uk/efo/EFO_0001358 post-traumatic stress disorder 'post-traumatic stress disorder' SubClassOf 'neurotic disorder' 'post-traumatic stress disorder' SubClassOf 'neurotic disorder' http://purl.obolibrary.org/obo/MONDO_0019366 free sialic acid storage disease 'free sialic acid storage disease' SubClassOf 'inborn disorder of lysosomal amino acid transport' 'free sialic acid storage disease' SubClassOf 'inborn disorder of lysosomal amino acid transport' http://purl.obolibrary.org/obo/MONDO_0019362 epidemic louse-borne typhus 'epidemic louse-borne typhus' SubClassOf 'typhus' 'epidemic louse-borne typhus' SubClassOf 'typhus' http://purl.obolibrary.org/obo/MONDO_0020370 Cogan-Reese syndrome 'Cogan-Reese syndrome' SubClassOf 'iridocorneal endothelial syndrome' 'Cogan-Reese syndrome' SubClassOf 'iridocorneal endothelial syndrome' http://www.ebi.ac.uk/efo/EFO_0001380 hypopituitarism 'hypopituitarism' SubClassOf 'pituitary gland disease' 'hypopituitarism' SubClassOf 'pituitary gland disease' http://purl.obolibrary.org/obo/MONDO_0020377 early-onset partial cataract 'early-onset partial cataract' SubClassOf 'early-onset non-syndromic cataract' 'early-onset partial cataract' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0020376 early-onset nuclear cataract 'early-onset nuclear cataract' SubClassOf 'early-onset zonular cataract' 'early-onset nuclear cataract' SubClassOf 'early-onset zonular cataract' http://purl.obolibrary.org/obo/MONDO_0020374 cerulean cataract 'cerulean cataract' SubClassOf 'early-onset partial cataract' 'cerulean cataract' SubClassOf 'early-onset partial cataract' http://purl.obolibrary.org/obo/MONDO_0020373 early-onset anterior polar cataract 'early-onset anterior polar cataract' SubClassOf 'early-onset partial cataract' 'early-onset anterior polar cataract' SubClassOf 'early-onset partial cataract' http://purl.obolibrary.org/obo/MONDO_0020372 early-onset sutural cataract 'early-onset sutural cataract' SubClassOf 'early-onset zonular cataract' 'early-onset sutural cataract' SubClassOf 'early-onset zonular cataract' http://purl.obolibrary.org/obo/MONDO_0020371 essential iris atrophy 'essential iris atrophy' SubClassOf 'iridocorneal endothelial syndrome' 'essential iris atrophy' SubClassOf 'iridocorneal endothelial syndrome' http://purl.obolibrary.org/obo/MONDO_0044349 acquired hemoglobinopathy 'acquired hemoglobinopathy' SubClassOf 'hemoglobinopathy' 'acquired hemoglobinopathy' SubClassOf 'hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0020379 early-onset zonular cataract 'early-onset zonular cataract' SubClassOf 'early-onset partial cataract' 'early-onset zonular cataract' SubClassOf 'early-onset partial cataract' http://purl.obolibrary.org/obo/MONDO_0019374 CAMOS syndrome 'CAMOS syndrome' SubClassOf 'autosomal recessive congenital cerebellar ataxia' 'CAMOS syndrome' SubClassOf 'autosomal recessive congenital cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia 'Fanconi anemia' SubClassOf 'bone marrow disorder' 'Fanconi anemia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fanconi anemia' SubClassOf 'inherited aplastic anemia' 'Fanconi anemia' SubClassOf 'DNA repair deficiency' 'Fanconi anemia' SubClassOf 'telomere syndrome' 'Fanconi anemia' SubClassOf 'bone marrow disorder' 'Fanconi anemia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fanconi anemia' SubClassOf 'inherited aplastic anemia' 'Fanconi anemia' SubClassOf 'DNA repair deficiency' 'Fanconi anemia' SubClassOf 'telomere syndrome' http://purl.obolibrary.org/obo/MONDO_0019394 Senior-Boichis syndrome 'Senior-Boichis syndrome' SubClassOf 'inherited renal tubular disease' 'Senior-Boichis syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0020367 juvenile open angle glaucoma 'juvenile open angle glaucoma' SubClassOf 'open-angle glaucoma' 'juvenile open angle glaucoma' SubClassOf 'open-angle glaucoma' http://purl.obolibrary.org/obo/MONDO_0020365 congenital hereditary endothelial dystrophy type I 'congenital hereditary endothelial dystrophy type I' SubClassOf 'posterior corneal dystrophy' 'congenital hereditary endothelial dystrophy type I' SubClassOf 'posterior corneal dystrophy' http://www.ebi.ac.uk/efo/EFO_0001376 synovial sarcoma 'synovial sarcoma' SubClassOf 'soft tissue sarcoma' 'synovial sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0020364 posterior polymorphous corneal dystrophy 'posterior polymorphous corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' 'posterior polymorphous corneal dystrophy' SubClassOf 'posterior corneal dystrophy' 'posterior polymorphous corneal dystrophy' SubClassOf 'corneal endothelial dystrophy' 'posterior polymorphous corneal dystrophy' SubClassOf 'posterior corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020362 inverse Marcus-Gunn phenomenon 'inverse Marcus-Gunn phenomenon' SubClassOf 'jaw-winking syndrome' 'inverse Marcus-Gunn phenomenon' SubClassOf 'jaw-winking syndrome' http://www.ebi.ac.uk/efo/EFO_0001378 multiple myeloma 'multiple myeloma' SubClassOf 'myeloid neoplasm' 'multiple myeloma' SubClassOf 'plasma cell neoplasm' 'multiple myeloma' SubClassOf 'myeloid neoplasm' 'multiple myeloma' SubClassOf 'plasma cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0020361 partial cryptophthalmia 'partial cryptophthalmia' SubClassOf 'isolated cryptophthalmia' 'partial cryptophthalmia' SubClassOf 'isolated cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0020360 complete cryptophthalmia 'complete cryptophthalmia' SubClassOf 'isolated cryptophthalmia' 'complete cryptophthalmia' SubClassOf 'isolated cryptophthalmia' http://www.ebi.ac.uk/efo/EFO_1001806 macrophage activation syndrome 'macrophage activation syndrome' SubClassOf 'secondary hemophagocytic lymphohistiocytosis' 'macrophage activation syndrome' SubClassOf 'secondary hemophagocytic lymphohistiocytosis' http://www.ebi.ac.uk/efo/EFO_1001805 lobomycosis 'lobomycosis' SubClassOf 'dermatomycosis' 'lobomycosis' SubClassOf 'dermatomycosis' http://purl.obolibrary.org/obo/MONDO_0020369 Chandler syndrome 'Chandler syndrome' SubClassOf 'iridocorneal endothelial syndrome' 'Chandler syndrome' SubClassOf 'corneal dystrophy' 'Chandler syndrome' SubClassOf 'iridocorneal endothelial syndrome' 'Chandler syndrome' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020368 Axenfeld anomaly 'Axenfeld anomaly' SubClassOf 'eye disease' 'Axenfeld anomaly' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0019388 pelvis syndrome 'pelvis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'pelvis syndrome' SubClassOf 'syndromic disease' 'pelvis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'pelvis syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001809 Marchiafava-Bignami Disease 'Marchiafava-Bignami Disease' SubClassOf 'neurodegenerative disease' 'Marchiafava-Bignami Disease' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome 'macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001808 manganese poisoning 'manganese poisoning' SubClassOf 'poisoning' 'manganese poisoning' SubClassOf 'poisoning' http://www.ebi.ac.uk/efo/EFO_1001807 malacoplakia 'malacoplakia' SubClassOf 'intestinal disease' 'malacoplakia' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0044322 intellectual developmental disorder with neuropsychiatric features 'intellectual developmental disorder with neuropsychiatric features' SubClassOf 'syndromic intellectual disability' 'intellectual developmental disorder with neuropsychiatric features' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020398 congenital mitral stenosis 'congenital mitral stenosis' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' 'congenital mitral stenosis' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W 'Fanconi anemia, complementation group W' SubClassOf 'Fanconi anemia' 'Fanconi anemia, complementation group W' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0044324 Al Kaissi syndrome 'Al Kaissi syndrome' SubClassOf 'syndromic intellectual disability' 'Al Kaissi syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044327 polycystic liver disease 4 with or without kidney cysts 'polycystic liver disease 4 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' 'polycystic liver disease 4 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' http://purl.obolibrary.org/obo/MONDO_0044326 developmental delay and seizures with or without movement abnormalities 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'Neurodevelopmental disorder' 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'Neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_1001810 mercury poisoning 'mercury poisoning' SubClassOf 'poisoning' 'mercury poisoning' SubClassOf 'poisoning' http://purl.obolibrary.org/obo/MONDO_0019398 desmin-related myopathy with Mallory body-like inclusions 'desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'hereditary inclusion-body myopathy' 'desmin-related myopathy with Mallory body-like inclusions' SubClassOf 'hereditary inclusion-body myopathy' http://www.ebi.ac.uk/efo/EFO_1001819 orbital myositis 'orbital myositis' SubClassOf 'myositis' 'orbital myositis' SubClassOf 'myositis' http://purl.obolibrary.org/obo/MONDO_0019397 unknown leukodystrophy 'unknown leukodystrophy' SubClassOf 'leukodystrophy' 'unknown leukodystrophy' SubClassOf 'leukodystrophy' http://www.ebi.ac.uk/efo/EFO_1001818 oral submucous fibrosis 'oral submucous fibrosis' SubClassOf 'mouth disease' 'oral submucous fibrosis' SubClassOf 'disorder of facial skeleton' 'oral submucous fibrosis' SubClassOf 'mouth disease' 'oral submucous fibrosis' SubClassOf 'disorder of facial skeleton' http://purl.obolibrary.org/obo/MONDO_0020381 patterned macular dystrophy 'patterned macular dystrophy' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' 'patterned macular dystrophy' SubClassOf 'macular degeneration' 'patterned macular dystrophy' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' 'patterned macular dystrophy' SubClassOf 'macular degeneration' http://purl.obolibrary.org/obo/MONDO_0020380 autosomal dominant cerebellar ataxia 'autosomal dominant cerebellar ataxia' SubClassOf 'disease has major feature' some 'dementia' 'autosomal dominant cerebellar ataxia' SubClassOf 'hereditary cerebellar ataxia' 'autosomal dominant cerebellar ataxia' SubClassOf 'cerebellar degeneration' 'autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' 'autosomal dominant cerebellar ataxia' SubClassOf 'hereditary cerebellar ataxia' 'autosomal dominant cerebellar ataxia' SubClassOf 'cerebellar degeneration' http://purl.obolibrary.org/obo/MONDO_0044334 connective and soft tissue neoplasm 'connective and soft tissue neoplasm' SubClassOf 'neoplasm' 'connective and soft tissue neoplasm' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 'double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' 'double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' http://purl.obolibrary.org/obo/MONDO_0044336 colorectal signet ring cell carcinoma 'colorectal signet ring cell carcinoma' SubClassOf 'signet ring cell carcinoma' 'colorectal signet ring cell carcinoma' SubClassOf 'colorectal adenocarcinoma' 'colorectal signet ring cell carcinoma' SubClassOf 'signet ring cell carcinoma' 'colorectal signet ring cell carcinoma' SubClassOf 'colorectal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0020387 double outlet right ventricle with subpulmonary ventricular septal defect 'double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' 'double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' http://purl.obolibrary.org/obo/MONDO_0044335 benign soft tissue neoplasm 'benign soft tissue neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'benign soft tissue neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' 'benign soft tissue neoplasm' SubClassOf 'Soft Tissue Neoplasm' 'benign soft tissue neoplasm' SubClassOf 'benign connective and soft tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0020386 double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 'double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis' SubClassOf 'double outlet right ventricle' 'double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis' SubClassOf 'double outlet right ventricle' http://purl.obolibrary.org/obo/MONDO_0020385 congenitally uncorrected transposition of the great arteries with coarctation 'congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'dextro-looped transposition of the great arteries' 'congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'dextro-looped transposition of the great arteries' http://purl.obolibrary.org/obo/MONDO_0020384 Niemann-Pick disease type E 'Niemann-Pick disease type E' SubClassOf 'Niemann-Pick disease' 'Niemann-Pick disease type E' SubClassOf 'Niemann-Pick disease' http://purl.obolibrary.org/obo/MONDO_0020383 fundus pulverulentus 'fundus pulverulentus' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' 'fundus pulverulentus' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' http://purl.obolibrary.org/obo/MONDO_0020382 multifocal pattern dystrophy simulating fundus flavimaculatus 'multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' 'multifocal pattern dystrophy simulating fundus flavimaculatus' SubClassOf 'patterned dystrophy of the retinal pigment epithelium' http://www.ebi.ac.uk/efo/EFO_1001825 pleurisy 'pleurisy' SubClassOf 'pleural disorder' 'pleurisy' SubClassOf 'pleural disorder' http://purl.obolibrary.org/obo/MONDO_0044338 autoimmune primary ovarian failure 'autoimmune primary ovarian failure' SubClassOf 'autoimmune disorder of endocrine system' 'autoimmune primary ovarian failure' SubClassOf 'autoimmune disorder of endocrine system' http://www.ebi.ac.uk/efo/EFO_1001824 pinguecula 'pinguecula' SubClassOf 'conjunctival degeneration' 'pinguecula' SubClassOf 'conjunctival degeneration' http://www.ebi.ac.uk/efo/EFO_1001822 Paroxysmal Hemicrania 'Paroxysmal Hemicrania' SubClassOf 'trigeminal autonomic cephalalgia' 'Paroxysmal Hemicrania' SubClassOf 'trigeminal autonomic cephalalgia' http://www.ebi.ac.uk/efo/EFO_1001821 osteoradionecrosis 'osteoradionecrosis' SubClassOf 'osteonecrosis' 'osteoradionecrosis' SubClassOf 'osteonecrosis' http://purl.obolibrary.org/obo/MONDO_0001014 chronic leukemia 'chronic leukemia' SubClassOf 'leukemia' 'chronic leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy 'monogenic epilepsy' SubClassOf 'epilepsy' 'monogenic epilepsy' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome 'epilepsy syndrome' SubClassOf 'epilepsy' 'epilepsy syndrome' SubClassOf 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0001024 pneumonic plague 'pneumonic plague' SubClassOf 'Yersinia pestis infectious disease' 'pneumonic plague' SubClassOf 'Yersinia pestis infectious disease' http://purl.obolibrary.org/obo/MONDO_0001023 prolymphocytic leukemia 'prolymphocytic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'prolymphocytic leukemia' SubClassOf 'chronic leukemia' 'prolymphocytic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'prolymphocytic leukemia' SubClassOf 'chronic leukemia' http://purl.obolibrary.org/obo/MONDO_0001029 Klippel-Feil syndrome 'Klippel-Feil syndrome' SubClassOf 'musculoskeletal system disease' 'Klippel-Feil syndrome' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0001028 acute pericementitis 'acute pericementitis' SubClassOf 'periodontitis' 'acute pericementitis' SubClassOf 'periodontitis' http://purl.obolibrary.org/obo/MONDO_0001020 amblyopia 'amblyopia' SubClassOf 'vision disorder' 'amblyopia' SubClassOf 'vision disorder' http://purl.obolibrary.org/obo/MONDO_0015666 familial idiopathic dilatation of the right atrium 'familial idiopathic dilatation of the right atrium' SubClassOf 'congenital heart malformation' 'familial idiopathic dilatation of the right atrium' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0015667 acute myeloid leukemia by FAB classification 'acute myeloid leukemia by FAB classification' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia by FAB classification' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0015660 sporadic fetal brain disruption sequence 'sporadic fetal brain disruption sequence' SubClassOf 'central nervous system disease' 'sporadic fetal brain disruption sequence' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0025003 goat disease 'goat disease' SubClassOf 'animal disease' 'goat disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0001039 tonsillitis 'tonsillitis' SubClassOf 'upper respiratory tract disorder' 'tonsillitis' SubClassOf 'inflammatory disease' 'tonsillitis' SubClassOf 'upper respiratory tract disorder' 'tonsillitis' SubClassOf 'inflammatory disease' http://purl.obolibrary.org/obo/MONDO_0001031 purulent acute otitis media 'purulent acute otitis media' SubClassOf 'suppurative otitis media' 'purulent acute otitis media' SubClassOf 'suppurative otitis media' http://purl.obolibrary.org/obo/MONDO_0015674 late infantile neuronal ceroid lipofuscinosis 'late infantile neuronal ceroid lipofuscinosis' SubClassOf 'lysosomal storage disease' 'late infantile neuronal ceroid lipofuscinosis' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0015678 dysplasia of head of femur, Meyer type 'dysplasia of head of femur, Meyer type' SubClassOf 'skeletal dysplasia' 'dysplasia of head of femur, Meyer type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0001045 intestinal atresia 'intestinal atresia' SubClassOf 'intestinal disease' 'intestinal atresia' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0001042 patellar tendinitis 'patellar tendinitis' SubClassOf 'tendinitis' 'patellar tendinitis' SubClassOf 'tendinitis' http://purl.obolibrary.org/obo/MONDO_0001040 nasopharyngitis 'nasopharyngitis' SubClassOf 'inflammatory disease' 'nasopharyngitis' SubClassOf 'nasopharyngeal disorder' 'nasopharyngitis' SubClassOf 'inflammatory disease' 'nasopharyngitis' SubClassOf 'nasopharyngeal disorder' http://purl.obolibrary.org/obo/MONDO_0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'myeloid hemopathy' 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'disease has major feature' some 'Eosinophilia' 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'hematopoietic and lymphoid cell neoplasm' 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Eosinophilia' 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'myeloid hemopathy' 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0015686 primary peritoneal carcinoma 'primary peritoneal carcinoma' SubClassOf 'peritoneal carcinoma' 'primary peritoneal carcinoma' SubClassOf 'peritoneal carcinoma' http://purl.obolibrary.org/obo/MONDO_0015681 childhood disintegrative disorder 'childhood disintegrative disorder' SubClassOf 'pervasive developmental disorder' 'childhood disintegrative disorder' SubClassOf 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0001056 gastric cancer 'gastric cancer' SubClassOf 'digestive system cancer' 'gastric cancer' SubClassOf 'stomach neoplasm' 'gastric cancer' SubClassOf 'digestive system cancer' 'gastric cancer' SubClassOf 'stomach neoplasm' http://purl.obolibrary.org/obo/MONDO_0001059 gastric lymphoma 'gastric lymphoma' SubClassOf 'gastrointestinal lymphoma' 'gastric lymphoma' SubClassOf 'gastric cancer' 'gastric lymphoma' SubClassOf 'gastrointestinal lymphoma' 'gastric lymphoma' SubClassOf 'gastric cancer' http://purl.obolibrary.org/obo/MONDO_0001052 chronic fungal otitis externa 'chronic fungal otitis externa' SubClassOf 'otomycosis' 'chronic fungal otitis externa' SubClassOf 'otomycosis' http://purl.obolibrary.org/obo/MONDO_0001051 acute otitis externa 'acute otitis externa' SubClassOf 'otitis externa' 'acute otitis externa' SubClassOf 'otitis externa' http://purl.obolibrary.org/obo/MONDO_0015699 immunodeficiency due to a classical component pathway complement deficiency 'immunodeficiency due to a classical component pathway complement deficiency' SubClassOf 'complement deficiency' 'immunodeficiency due to a classical component pathway complement deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0015698 transient hypogammaglobulinemia of infancy 'transient hypogammaglobulinemia of infancy' SubClassOf 'transient hypogammaglobulinemia' 'transient hypogammaglobulinemia of infancy' SubClassOf 'transient hypogammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0015697 immunoglobulin heavy chain deficiency 'immunoglobulin heavy chain deficiency' SubClassOf 'inborn error of immunity' 'immunoglobulin heavy chain deficiency' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0015690 myeloid neoplasm associated with PDGFRB rearrangement 'myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' 'myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' http://purl.obolibrary.org/obo/MONDO_0015695 combined immunodeficiency due to CRAC channel dysfunction 'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0040673 malignant peritoneal germ cell tumor 'malignant peritoneal germ cell tumor' SubClassOf 'extragonadal germ cell cancer' 'malignant peritoneal germ cell tumor' SubClassOf 'peritoneum cancer' 'malignant peritoneal germ cell tumor' SubClassOf 'extragonadal germ cell cancer' 'malignant peritoneal germ cell tumor' SubClassOf 'peritoneum cancer' http://purl.obolibrary.org/obo/MONDO_0001064 acute eustachian salpingitis 'acute eustachian salpingitis' SubClassOf 'otosalpingitis' 'acute eustachian salpingitis' SubClassOf 'otosalpingitis' http://purl.obolibrary.org/obo/MONDO_0001063 cardia cancer 'cardia cancer' SubClassOf 'gastric cancer' 'cardia cancer' SubClassOf 'gastric cancer' http://purl.obolibrary.org/obo/MONDO_0040677 invasive carcinoma 'invasive carcinoma' SubClassOf 'carcinoma' 'invasive carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0040675 myofibroblastoma 'myofibroblastoma' SubClassOf 'Fibroblastic Neoplasm' 'myofibroblastoma' SubClassOf 'Fibroblastic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma 'infiltrating urothelial carcinoma' SubClassOf 'invasive carcinoma' 'infiltrating urothelial carcinoma' SubClassOf 'invasive carcinoma' http://purl.obolibrary.org/obo/MONDO_0001074 chronic tic disorder 'chronic tic disorder' SubClassOf 'tic disorder' 'chronic tic disorder' SubClassOf 'movement disorder' 'chronic tic disorder' SubClassOf 'movement disorder' 'chronic tic disorder' SubClassOf 'tic disorder' http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome 'Fanconi renotubular syndrome' SubClassOf 'syndromic disease' 'Fanconi renotubular syndrome' SubClassOf 'renal tubular transport disease' 'Fanconi renotubular syndrome' SubClassOf 'syndromic disease' 'Fanconi renotubular syndrome' SubClassOf 'renal tubular transport disease' http://purl.obolibrary.org/obo/MONDO_0001082 lymph node cancer 'lymph node cancer' SubClassOf 'lymphatic system cancer' 'lymph node cancer' SubClassOf 'lymph node neoplasm' 'lymph node cancer' SubClassOf 'lymphatic system cancer' 'lymph node cancer' SubClassOf 'lymph node neoplasm' http://purl.obolibrary.org/obo/MONDO_0001081 acute cervicitis 'acute cervicitis' SubClassOf 'cervicitis' 'acute cervicitis' SubClassOf 'cervicitis' http://purl.obolibrary.org/obo/MONDO_0001080 acute gonococcal cervicitis 'acute gonococcal cervicitis' SubClassOf 'gonococcal cervicitis' 'acute gonococcal cervicitis' SubClassOf 'acute cervicitis' 'acute gonococcal cervicitis' SubClassOf 'gonococcal cervicitis' 'acute gonococcal cervicitis' SubClassOf 'acute cervicitis' http://purl.obolibrary.org/obo/MONDO_0001087 schizotypal personality disorder 'schizotypal personality disorder' SubClassOf 'personality disorder' 'schizotypal personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0001085 interstitial nephritis 'interstitial nephritis' SubClassOf 'nephritis' 'interstitial nephritis' SubClassOf 'nephritis' http://purl.obolibrary.org/obo/MONDO_0001084 primary optic atrophy 'primary optic atrophy' SubClassOf 'optic atrophy' 'primary optic atrophy' SubClassOf 'optic atrophy' http://purl.obolibrary.org/obo/MONDO_0040654 autosomal dominant oculocutaneous albinism 'autosomal dominant oculocutaneous albinism' SubClassOf 'oculocutaneous albinism' 'autosomal dominant oculocutaneous albinism' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0001090 acute anterolateral myocardial infarction 'acute anterolateral myocardial infarction' SubClassOf 'acute myocardial infarction' 'acute anterolateral myocardial infarction' SubClassOf 'acute myocardial infarction' http://purl.obolibrary.org/obo/MONDO_0001093 colonic lymphangioma 'colonic lymphangioma' SubClassOf 'lymphangioma' 'colonic lymphangioma' SubClassOf 'benign colon neoplasm' 'colonic lymphangioma' SubClassOf 'lymphangioma' 'colonic lymphangioma' SubClassOf 'benign colon neoplasm' http://purl.obolibrary.org/obo/MONDO_0001092 colon leiomyoma 'colon leiomyoma' SubClassOf 'benign colon neoplasm' 'colon leiomyoma' SubClassOf 'colorectal leiomyoma' 'colon leiomyoma' SubClassOf 'benign colon neoplasm' 'colon leiomyoma' SubClassOf 'colorectal leiomyoma' http://purl.obolibrary.org/obo/MONDO_0001091 lipoma of colon 'lipoma of colon' SubClassOf 'benign colon neoplasm' 'lipoma of colon' SubClassOf 'colorectal lipoma' 'lipoma of colon' SubClassOf 'benign colon neoplasm' 'lipoma of colon' SubClassOf 'colorectal lipoma' http://purl.obolibrary.org/obo/MONDO_0001096 mediastinum ganglioneuroblastoma 'mediastinum ganglioneuroblastoma' SubClassOf 'peripheral ganglioneuroblastoma' 'mediastinum ganglioneuroblastoma' SubClassOf 'Mediastinal Neuroblastoma' 'mediastinum ganglioneuroblastoma' SubClassOf 'peripheral ganglioneuroblastoma' 'mediastinum ganglioneuroblastoma' SubClassOf 'Mediastinal Neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0025082 helminthiasis, animal 'helminthiasis, animal' SubClassOf 'parasitic disease, non-human animal' 'helminthiasis, animal' SubClassOf 'parasitic disease, non-human animal' http://www.ebi.ac.uk/efo/EFO_0006510 Herpes Zoster 'Herpes Zoster' SubClassOf 'disease arises from feature' some 'Varicella Zoster infection' 'Herpes Zoster' SubClassOf 'post-viral disorder' 'Herpes Zoster' SubClassOf 'Varicella Zoster infection' 'Herpes Zoster' SubClassOf 'disease arises from feature' some 'Varicella Zoster infection' 'Herpes Zoster' SubClassOf 'post-viral disorder' 'Herpes Zoster' SubClassOf 'Varicella Zoster infection' http://www.ebi.ac.uk/efo/EFO_0006513 hereditary hemochromatosis type 1 'hereditary hemochromatosis type 1' SubClassOf 'hereditary hemochromatosis' 'hereditary hemochromatosis type 1' SubClassOf 'hereditary hemochromatosis' http://www.ebi.ac.uk/efo/EFO_0006511 Kashin-Beck disease 'Kashin-Beck disease' SubClassOf 'osteochondrodysplasia' 'Kashin-Beck disease' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0015705 autosomal recessive centronuclear myopathy 'autosomal recessive centronuclear myopathy' SubClassOf 'centronuclear myopathy' 'autosomal recessive centronuclear myopathy' SubClassOf 'centronuclear myopathy' http://www.ebi.ac.uk/efo/EFO_0006500 tubular adenocarcinoma 'tubular adenocarcinoma' SubClassOf 'adenocarcinoma' 'tubular adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0015704 familial scaphocephaly syndrome 'familial scaphocephaly syndrome' SubClassOf 'syndromic craniosynostosis' 'familial scaphocephaly syndrome' SubClassOf 'syndromic craniosynostosis' http://www.ebi.ac.uk/efo/EFO_0006505 chronic bronchitis 'chronic bronchitis' SubClassOf 'bronchitis' 'chronic bronchitis' SubClassOf 'chronic obstructive pulmonary disease' 'chronic bronchitis' SubClassOf 'bronchitis' 'chronic bronchitis' SubClassOf 'chronic obstructive pulmonary disease' http://purl.obolibrary.org/obo/MONDO_0015708 immuno-osseous dysplasia 'immuno-osseous dysplasia' SubClassOf 'inborn error of immunity' 'immuno-osseous dysplasia' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0015703 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015702 T-B+ severe combined immunodeficiency due to CD45 deficiency 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to CD45 deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015701 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' 'T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015700 immunodeficiency due to a late component of complement deficiency 'immunodeficiency due to a late component of complement deficiency' SubClassOf 'complement deficiency' 'immunodeficiency due to a late component of complement deficiency' SubClassOf 'complement deficiency' http://purl.obolibrary.org/obo/MONDO_0015717 mild hemophilia B 'mild hemophilia B' SubClassOf 'hemophilia B' 'mild hemophilia B' SubClassOf 'hemophilia B' http://purl.obolibrary.org/obo/MONDO_0015716 moderately severe hemophilia B 'moderately severe hemophilia B' SubClassOf 'hemophilia B' 'moderately severe hemophilia B' SubClassOf 'hemophilia B' http://purl.obolibrary.org/obo/MONDO_0015715 severe hemophilia B 'severe hemophilia B' SubClassOf 'hemophilia B' 'severe hemophilia B' SubClassOf 'hemophilia B' http://purl.obolibrary.org/obo/MONDO_0015719 severe hemophilia A 'severe hemophilia A' SubClassOf 'hemophilia A' 'severe hemophilia A' SubClassOf 'hemophilia A' http://purl.obolibrary.org/obo/MONDO_0015713 idiopathic central precocious puberty 'idiopathic central precocious puberty' SubClassOf 'Central precocious puberty' 'idiopathic central precocious puberty' SubClassOf 'Central precocious puberty' http://purl.obolibrary.org/obo/MONDO_0015712 non-distal trisomy 10q 'non-distal trisomy 10q' SubClassOf 'partial duplication of the long arm of chromosome 10' 'non-distal trisomy 10q' SubClassOf 'partial duplication of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0015728 distal trisomy 15q 'distal trisomy 15q' SubClassOf '15q overgrowth syndrome' 'distal trisomy 15q' SubClassOf '15q overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0015726 distal trisomy 14q 'distal trisomy 14q' SubClassOf 'syndromic disease' 'distal trisomy 14q' SubClassOf 'partial duplication of the long arm of chromosome 14' 'distal trisomy 14q' SubClassOf 'syndromic disease' 'distal trisomy 14q' SubClassOf 'partial duplication of the long arm of chromosome 14' http://purl.obolibrary.org/obo/MONDO_0015721 mild hemophilia A 'mild hemophilia A' SubClassOf 'hemophilia A' 'mild hemophilia A' SubClassOf 'hemophilia A' http://purl.obolibrary.org/obo/MONDO_0015720 moderately severe hemophilia A 'moderately severe hemophilia A' SubClassOf 'hemophilia A' 'moderately severe hemophilia A' SubClassOf 'hemophilia A' http://purl.obolibrary.org/obo/MONDO_0015724 non-distal trisomy 13q 'non-distal trisomy 13q' SubClassOf 'chromosome 13q trisomy' 'non-distal trisomy 13q' SubClassOf 'chromosome 13q trisomy' http://purl.obolibrary.org/obo/MONDO_0015723 trisomy 12p 'trisomy 12p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 12' 'trisomy 12p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0015722 congenital vitamin K-dependent coagulation factors deficiency 'congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'coagulation protein disease' 'congenital vitamin K-dependent coagulation factors deficiency' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0015739 adult-onset nemaline myopathy 'adult-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'adult-onset nemaline myopathy' SubClassOf 'nemaline myopathy' 'adult-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' 'adult-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'adult-onset nemaline myopathy' SubClassOf 'nemaline myopathy' 'adult-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' http://purl.obolibrary.org/obo/MONDO_0015738 childhood-onset nemaline myopathy 'childhood-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'childhood-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'childhood-onset nemaline myopathy' SubClassOf 'nemaline myopathy' 'childhood-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' 'childhood-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'childhood-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'childhood-onset nemaline myopathy' SubClassOf 'nemaline myopathy' 'childhood-onset nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' http://purl.obolibrary.org/obo/MONDO_0015737 typical nemaline myopathy 'typical nemaline myopathy' SubClassOf 'nemaline myopathy' 'typical nemaline myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'typical nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'typical nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' 'typical nemaline myopathy' SubClassOf 'nemaline myopathy' 'typical nemaline myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'typical nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' 'typical nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' http://purl.obolibrary.org/obo/MONDO_0015732 intermediate anorectal malformation 'intermediate anorectal malformation' SubClassOf 'disorder of development or morphogenesis' 'intermediate anorectal malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015731 high anorectal malformation 'high anorectal malformation' SubClassOf 'disorder of development or morphogenesis' 'high anorectal malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015736 intermediate nemaline myopathy 'intermediate nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'intermediate nemaline myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'intermediate nemaline myopathy' SubClassOf 'myopathy' 'intermediate nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' 'intermediate nemaline myopathy' SubClassOf 'qualitative or quantitative defects of tropomyosin' 'intermediate nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'intermediate nemaline myopathy' SubClassOf 'myopathy' 'intermediate nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' http://purl.obolibrary.org/obo/MONDO_0015735 severe congenital nemaline myopathy 'severe congenital nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' 'severe congenital nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'severe congenital nemaline myopathy' SubClassOf 'nemaline myopathy' 'severe congenital nemaline myopathy' SubClassOf 'qualitative or quantitative defects of nebulin' 'severe congenital nemaline myopathy' SubClassOf 'qualitative or quantitative defects of alpha-actin' 'severe congenital nemaline myopathy' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0015734 rectal duplication 'rectal duplication' SubClassOf 'anorectal malformation' 'rectal duplication' SubClassOf 'anorectal malformation' http://purl.obolibrary.org/obo/MONDO_0015733 low anorectal malformation 'low anorectal malformation' SubClassOf 'disorder of development or morphogenesis' 'low anorectal malformation' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0001104 toxic diffuse goiter 'toxic diffuse goiter' SubClassOf 'hyperthyroidism' 'toxic diffuse goiter' SubClassOf 'hyperthyroidism' http://purl.obolibrary.org/obo/MONDO_0015749 6q16 deletion syndrome '6q16 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' '6q16 deletion syndrome' SubClassOf 'Prader-Willi-like syndrome' '6q16 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' '6q16 deletion syndrome' SubClassOf 'Prader-Willi-like syndrome' http://www.ebi.ac.uk/efo/EFO_0006545 brain glioblastoma 'brain glioblastoma' SubClassOf 'brain glioma' 'brain glioblastoma' SubClassOf 'glioblastoma multiforme' 'brain glioblastoma' SubClassOf 'brain glioma' 'brain glioblastoma' SubClassOf 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_0006544 bladder transitional cell carcinoma 'bladder transitional cell carcinoma' SubClassOf 'urinary bladder carcinoma' 'bladder transitional cell carcinoma' SubClassOf 'urinary bladder carcinoma' http://purl.obolibrary.org/obo/MONDO_0015748 hereditary mucosal leukokeratosis 'hereditary mucosal leukokeratosis' SubClassOf 'melanocytic nevus' 'hereditary mucosal leukokeratosis' SubClassOf 'hereditary skin disorder' 'hereditary mucosal leukokeratosis' SubClassOf 'melanocytic nevus' 'hereditary mucosal leukokeratosis' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0015741 distal trisomy 18q 'distal trisomy 18q' SubClassOf 'partial trisomy of the long arm of chromosome 18' 'distal trisomy 18q' SubClassOf 'partial trisomy of the long arm of chromosome 18' http://purl.obolibrary.org/obo/MONDO_0015740 trisomy 18p 'trisomy 18p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 18' 'trisomy 18p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 18' http://purl.obolibrary.org/obo/MONDO_0015746 male infertility due to globozoospermia 'male infertility due to globozoospermia' SubClassOf 'male infertility with teratozoospermia due to single gene mutation' 'male infertility due to globozoospermia' SubClassOf 'male infertility with teratozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'disorder of development or morphogenesis' 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015744 distal trisomy 19q 'distal trisomy 19q' SubClassOf 'partial duplication of the long arm of chromosome 19' 'distal trisomy 19q' SubClassOf 'partial duplication of the long arm of chromosome 19' http://purl.obolibrary.org/obo/MONDO_0001108 broad ligament malignant neoplasm 'broad ligament malignant neoplasm' SubClassOf 'uterine adnexa cancer' 'broad ligament malignant neoplasm' SubClassOf 'uterine adnexa cancer' http://purl.obolibrary.org/obo/MONDO_0001112 bubonic plague 'bubonic plague' SubClassOf 'Yersinia pestis infectious disease' 'bubonic plague' SubClassOf 'Yersinia pestis infectious disease' http://purl.obolibrary.org/obo/MONDO_0001110 chronic pyelonephritis 'chronic pyelonephritis' SubClassOf 'pyelonephritis' 'chronic pyelonephritis' SubClassOf 'pyelonephritis' http://purl.obolibrary.org/obo/MONDO_0001115 familial polycythemia 'familial polycythemia' SubClassOf 'polycythemia' 'familial polycythemia' SubClassOf 'polycythemia' http://purl.obolibrary.org/obo/MONDO_0001114 bacterial myocarditis 'bacterial myocarditis' SubClassOf 'myocarditis' 'bacterial myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/MONDO_0015753 cap myopathy 'cap myopathy' SubClassOf 'alpha-actinopathy' 'cap myopathy' SubClassOf 'TPM3-related myopathy' 'cap myopathy' SubClassOf 'alpha-actinopathy' 'cap myopathy' SubClassOf 'TPM3-related myopathy' http://purl.obolibrary.org/obo/MONDO_0015752 intellectual disability-cataracts-kyphosis syndrome 'intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'syndromic disease' 'intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015751 craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome 'craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015758 primary cutaneous T-cell lymphoma 'primary cutaneous T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous lymphoma' 'primary cutaneous T-cell lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous lymphoma' http://purl.obolibrary.org/obo/MONDO_0015757 lymphoid hemopathy 'lymphoid hemopathy' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'lymphoid hemopathy' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/MONDO_0015756 myeloid hemopathy 'myeloid hemopathy' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'myeloid hemopathy' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/MONDO_0015755 myopathy with hexagonally cross-linked tubular arrays 'myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'congenital myopathy' 'myopathy with hexagonally cross-linked tubular arrays' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0001123 chronic sphenoidal sinusitis 'chronic sphenoidal sinusitis' SubClassOf 'sphenoid sinusitis' 'chronic sphenoidal sinusitis' SubClassOf 'sphenoid sinusitis' http://purl.obolibrary.org/obo/MONDO_0001122 chronic maxillary sinusitis 'chronic maxillary sinusitis' SubClassOf 'maxillary sinusitis' 'chronic maxillary sinusitis' SubClassOf 'maxillary sinusitis' http://purl.obolibrary.org/obo/MONDO_0001128 nasal cavity cancer 'nasal cavity cancer' SubClassOf 'respiratory system cancer' 'nasal cavity cancer' SubClassOf 'head and neck malignant neoplasia' 'nasal cavity cancer' SubClassOf 'nasal cavity neoplasm' 'nasal cavity cancer' SubClassOf 'respiratory system cancer' 'nasal cavity cancer' SubClassOf 'head and neck malignant neoplasia' 'nasal cavity cancer' SubClassOf 'nasal cavity neoplasm' http://purl.obolibrary.org/obo/MONDO_0015762 progressive familial intrahepatic cholestasis 'progressive familial intrahepatic cholestasis' SubClassOf 'familial intrahepatic cholestasis' 'progressive familial intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' 'progressive familial intrahepatic cholestasis' SubClassOf 'syndromic disease' 'progressive familial intrahepatic cholestasis' SubClassOf 'familial intrahepatic cholestasis' 'progressive familial intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' 'progressive familial intrahepatic cholestasis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015769 distal trisomy 6p 'distal trisomy 6p' SubClassOf 'partial duplication of the short arm of chromosome 6' 'distal trisomy 6p' SubClassOf 'partial duplication of the short arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0015768 trisomy 5p 'trisomy 5p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 5' 'trisomy 5p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0015767 trisomy 4p 'trisomy 4p' SubClassOf 'partial duplication of the short arm of chromosome 4' 'trisomy 4p' SubClassOf 'partial duplication of the short arm of chromosome 4' http://purl.obolibrary.org/obo/MONDO_0001129 nasal cavity olfactory neuroblastoma 'nasal cavity olfactory neuroblastoma' SubClassOf 'nasal cavity cancer' 'nasal cavity olfactory neuroblastoma' SubClassOf 'Olfactory Neuroblastoma' 'nasal cavity olfactory neuroblastoma' SubClassOf 'nasal cavity cancer' 'nasal cavity olfactory neuroblastoma' SubClassOf 'Olfactory Neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0015761 trisomy 10p 'trisomy 10p' SubClassOf 'partial duplication of the short arm of chromosome 10' 'trisomy 10p' SubClassOf 'partial duplication of the short arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0015760 T-cell non-Hodgkin lymphoma 'T-cell non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'T-cell non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_0006475 plasma cell leukemia 'plasma cell leukemia' SubClassOf 'acute lymphoblastic leukemia' 'plasma cell leukemia' SubClassOf 'plasma cell neoplasm' 'plasma cell leukemia' SubClassOf 'acute lymphoblastic leukemia' 'plasma cell leukemia' SubClassOf 'plasma cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0040500 glycosylphosphatidylinositol biosynthesis defect 16 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015530 trigeminal autonomic cephalalgia 'trigeminal autonomic cephalalgia' SubClassOf 'neurovascular disorder' 'trigeminal autonomic cephalalgia' SubClassOf 'hypnic headache' 'trigeminal autonomic cephalalgia' SubClassOf 'neurovascular disorder' 'trigeminal autonomic cephalalgia' SubClassOf 'hypnic headache' http://www.ebi.ac.uk/efo/EFO_0006462 ovarian mucinous adenocarcinoma 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous ovarian cancer' 'ovarian mucinous adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous ovarian cancer' 'ovarian mucinous adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.ebi.ac.uk/efo/EFO_0006460 ovarian adenocarcinoma 'ovarian adenocarcinoma' SubClassOf 'ovarian carcinoma' 'ovarian adenocarcinoma' SubClassOf 'adenocarcinoma' 'ovarian adenocarcinoma' SubClassOf 'ovarian carcinoma' 'ovarian adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006463 ovarian teratoma 'ovarian teratoma' SubClassOf 'Ovarian Germ Cell Tumor' 'ovarian teratoma' SubClassOf 'Gonadal Teratoma' 'ovarian teratoma' SubClassOf 'Ovarian Germ Cell Tumor' 'ovarian teratoma' SubClassOf 'Gonadal Teratoma' http://purl.obolibrary.org/obo/MONDO_0015542 secondary hemophagocytic lymphohistiocytosis 'secondary hemophagocytic lymphohistiocytosis' SubClassOf 'hemophagocytic syndrome' 'secondary hemophagocytic lymphohistiocytosis' SubClassOf 'hemophagocytic syndrome' http://purl.obolibrary.org/obo/MONDO_0015546 non-distal monosomy 10q 'non-distal monosomy 10q' SubClassOf 'partial monosomy of the long arm of chromosome 10' 'non-distal monosomy 10q' SubClassOf 'partial monosomy of the long arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0015541 hereditary hemophagocytic lymphohistiocytosis 'hereditary hemophagocytic lymphohistiocytosis' SubClassOf 'inborn error of immunity' 'hereditary hemophagocytic lymphohistiocytosis' SubClassOf 'hemophagocytic syndrome' 'hereditary hemophagocytic lymphohistiocytosis' SubClassOf 'inborn error of immunity' 'hereditary hemophagocytic lymphohistiocytosis' SubClassOf 'hemophagocytic syndrome' http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome 'hemophagocytic syndrome' SubClassOf 'lymphatic system disease' 'hemophagocytic syndrome' SubClassOf 'syndromic disease' 'hemophagocytic syndrome' SubClassOf 'lymphatic system disease' 'hemophagocytic syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0006497 transitional cell papilloma 'transitional cell papilloma' SubClassOf 'papilloma' 'transitional cell papilloma' SubClassOf 'papilloma' http://purl.obolibrary.org/obo/MONDO_0015553 dystrophic epidermolysis bullosa, nails only 'dystrophic epidermolysis bullosa, nails only' SubClassOf 'epidermolysis bullosa dystrophica' 'dystrophic epidermolysis bullosa, nails only' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0015552 acral dystrophic epidermolysis bullosa 'acral dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' 'acral dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0015550 suprabasal epidermolysis bullosa simplex 'suprabasal epidermolysis bullosa simplex' SubClassOf 'epidermolysis bullosa simplex' 'suprabasal epidermolysis bullosa simplex' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0015567 cataract-glaucoma syndrome 'cataract-glaucoma syndrome' SubClassOf 'disorder of visual system' 'cataract-glaucoma syndrome' SubClassOf 'syndromic disease' 'cataract-glaucoma syndrome' SubClassOf 'disorder of visual system' 'cataract-glaucoma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015566 2q24 microdeletion syndrome '2q24 microdeletion syndrome' SubClassOf 'disease has major feature' some 'cataract' '2q24 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'cataract' '2q24 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0015564 Castleman disease 'Castleman disease' SubClassOf 'lymphoproliferative syndrome' 'Castleman disease' SubClassOf 'lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0015562 distal monosomy 17q 'distal monosomy 17q' SubClassOf 'partial deletion of the long arm of chromosome 17' 'distal monosomy 17q' SubClassOf 'partial deletion of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0015579 Hb Bart's hydrops fetalis 'Hb Bart's hydrops fetalis' SubClassOf 'digenic alpha thalassemia spectrum' 'Hb Bart's hydrops fetalis' SubClassOf 'digenic alpha thalassemia spectrum' http://purl.obolibrary.org/obo/MONDO_0015574 chronic cutaneous lupus erythematosus 'chronic cutaneous lupus erythematosus' SubClassOf 'cutaneous lupus erythematosus' 'chronic cutaneous lupus erythematosus' SubClassOf 'cutaneous lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0015571 deletion 5q35 'deletion 5q35' SubClassOf 'partial deletion of the long arm of chromosome 5' 'deletion 5q35' SubClassOf 'partial deletion of the long arm of chromosome 5' http://purl.obolibrary.org/obo/MONDO_0015587 rolandic epilepsy-speech dyspraxia syndrome 'rolandic epilepsy-speech dyspraxia syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'rolandic epilepsy-speech dyspraxia syndrome' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0015580 distal monosomy 7q36 'distal monosomy 7q36' SubClassOf 'partial deletion of the long arm of chromosome 7' 'distal monosomy 7q36' SubClassOf 'partial deletion of the long arm of chromosome 7' http://purl.obolibrary.org/obo/MONDO_0015585 cryptogenic late-onset epileptic spasms 'cryptogenic late-onset epileptic spasms' SubClassOf 'childhood-onset epilepsy syndrome' 'cryptogenic late-onset epileptic spasms' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0015583 2p21 microdeletion syndrome '2p21 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' '2p21 microdeletion syndrome' SubClassOf 'partial deletion of the short arm of chromosome 2' http://purl.obolibrary.org/obo/MONDO_0015597 pustulosis palmaris et plantaris 'pustulosis palmaris et plantaris' SubClassOf 'psoriasis' 'pustulosis palmaris et plantaris' SubClassOf 'epidermal disease' 'pustulosis palmaris et plantaris' SubClassOf 'psoriasis' 'pustulosis palmaris et plantaris' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0040566 inherited glutathione metabolism disease 'inherited glutathione metabolism disease' SubClassOf 'disorder of peptide and amine metabolism' 'inherited glutathione metabolism disease' SubClassOf 'disorder of peptide and amine metabolism' http://purl.obolibrary.org/obo/MONDO_0015607 partial chromosome Y deletion 'partial chromosome Y deletion' SubClassOf 'male infertility' 'partial chromosome Y deletion' SubClassOf 'male infertility' http://purl.obolibrary.org/obo/MONDO_0015606 Xp22.3 microdeletion syndrome 'Xp22.3 microdeletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome X' 'Xp22.3 microdeletion syndrome' SubClassOf 'partial monosomy of the short arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0015605 distal monosomy 9p 'distal monosomy 9p' SubClassOf 'chromosome 9p deletion syndrome' 'distal monosomy 9p' SubClassOf 'chromosome 9p deletion syndrome' http://purl.obolibrary.org/obo/MONDO_0015600 X-linked intellectual disability, Cilliers type 'X-linked intellectual disability, Cilliers type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Cilliers type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015601 X-linked intellectual disability, van Esch type 'X-linked intellectual disability, van Esch type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, van Esch type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015611 neutral lipid storage disease 'neutral lipid storage disease' SubClassOf 'lysosomal lipid storage disorder' 'neutral lipid storage disease' SubClassOf 'lysosomal lipid storage disorder' http://purl.obolibrary.org/obo/MONDO_0015613 dentin dysplasia 'dentin dysplasia' SubClassOf 'tooth hard tissue disease' 'dentin dysplasia' SubClassOf 'tooth hard tissue disease' http://purl.obolibrary.org/obo/MONDO_0015612 Dent disease 'Dent disease' SubClassOf 'inherited renal tubular disease' 'Dent disease' SubClassOf 'renal tubular transport disease' 'Dent disease' SubClassOf 'inherited renal tubular disease' 'Dent disease' SubClassOf 'renal tubular transport disease' http://purl.obolibrary.org/obo/MONDO_0015629 von Willebrand disease type 2B 'von Willebrand disease type 2B' SubClassOf 'von Willebrand disease 2' 'von Willebrand disease type 2B' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015628 von Willebrand disease type 2A 'von Willebrand disease type 2A' SubClassOf 'von Willebrand disease 2' 'von Willebrand disease type 2A' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly 'multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015626 Charcot-Marie-Tooth disease 'Charcot-Marie-Tooth disease' SubClassOf 'hereditary peripheral neuropathy' 'Charcot-Marie-Tooth disease' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0015625 diazoxide-resistant diffuse hyperinsulinism 'diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'diazoxide-resistant hyperinsulinism' 'diazoxide-resistant diffuse hyperinsulinism' SubClassOf 'diazoxide-resistant hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0015624 diazoxide-sensitive diffuse hyperinsulinism 'diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'congenital isolated hyperinsulinism' 'diazoxide-sensitive diffuse hyperinsulinism' SubClassOf 'congenital isolated hyperinsulinism' http://www.ebi.ac.uk/efo/EFO_0006452 malignant epithelioid mesothelioma 'malignant epithelioid mesothelioma' SubClassOf 'Malignant Mesothelioma' 'malignant epithelioid mesothelioma' SubClassOf 'Malignant Mesothelioma' http://purl.obolibrary.org/obo/MONDO_0015639 benign partial epilepsy with secondarily generalized seizures in infancy 'benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'benign non-familial infantile seizures' 'benign partial epilepsy with secondarily generalized seizures in infancy' SubClassOf 'benign non-familial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0015638 benign partial epilepsy of infancy with complex partial seizures 'benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'benign non-familial infantile seizures' 'benign partial epilepsy of infancy with complex partial seizures' SubClassOf 'benign non-familial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0015631 von Willebrand disease type 2N 'von Willebrand disease type 2N' SubClassOf 'von Willebrand disease 2' 'von Willebrand disease type 2N' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015630 von Willebrand disease type 2M 'von Willebrand disease type 2M' SubClassOf 'von Willebrand disease 2' 'von Willebrand disease type 2M' SubClassOf 'von Willebrand disease 2' http://purl.obolibrary.org/obo/MONDO_0015637 benign non-familial infantile seizures 'benign non-familial infantile seizures' SubClassOf 'benign partial infantile seizures' 'benign non-familial infantile seizures' SubClassOf 'benign partial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0015635 porokeratotic eccrine ostial and dermal duct nevus 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'eccrine sweat gland hamartoma' 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'melanocytic nevus' 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'eccrine sweat gland hamartoma' 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0015634 isolated osteopoikilosis 'isolated osteopoikilosis' SubClassOf 'osteopoikilosis' 'isolated osteopoikilosis' SubClassOf 'osteopoikilosis' http://purl.obolibrary.org/obo/MONDO_0015642 benign partial infantile seizures 'benign partial infantile seizures' SubClassOf 'infantile epilepsy syndrome' 'benign partial infantile seizures' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0015641 benign infantile focal epilepsy with midline spikes and wave during sleep 'benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'benign partial infantile seizures' 'benign infantile focal epilepsy with midline spikes and wave during sleep' SubClassOf 'benign partial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0015640 benign infantile seizures associated with mild gastroenteritis 'benign infantile seizures associated with mild gastroenteritis' SubClassOf 'benign partial infantile seizures' 'benign infantile seizures associated with mild gastroenteritis' SubClassOf 'benign partial infantile seizures' http://purl.obolibrary.org/obo/MONDO_0015411 facial cleft 'facial cleft' SubClassOf 'disorder of facial skeleton' 'facial cleft' SubClassOf 'developmental defect during embryogenesis' 'facial cleft' SubClassOf 'disorder of facial skeleton' 'facial cleft' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0015417 Tessier number 6 facial cleft 'Tessier number 6 facial cleft' SubClassOf 'facial cleft' 'Tessier number 6 facial cleft' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0015416 Tessier number 5 facial cleft 'Tessier number 5 facial cleft' SubClassOf 'facial cleft' 'Tessier number 5 facial cleft' SubClassOf 'facial cleft' http://purl.obolibrary.org/obo/MONDO_0015429 choroideremia-hypopituitarism syndrome 'choroideremia-hypopituitarism syndrome' SubClassOf 'inherited retinal dystrophy' 'choroideremia-hypopituitarism syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0015424 lethal chondrodysplasia, Moerman type 'lethal chondrodysplasia, Moerman type' SubClassOf 'osteochondrodysplasia' 'lethal chondrodysplasia, Moerman type' SubClassOf 'skeletal dysplasia' 'lethal chondrodysplasia, Moerman type' SubClassOf 'osteochondrodysplasia' 'lethal chondrodysplasia, Moerman type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015422 orofaciodigital syndrome type 13 'orofaciodigital syndrome type 13' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 13' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0015421 orofaciodigital syndrome type 12 'orofaciodigital syndrome type 12' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 12' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0015428 choroidal atrophy-alopecia syndrome 'choroidal atrophy-alopecia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'choroidal atrophy-alopecia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0015427 paroxysmal dyskinesia 'paroxysmal dyskinesia' SubClassOf 'paroxysmal dystonia' 'paroxysmal dyskinesia' SubClassOf 'paroxysmal dystonia' http://purl.obolibrary.org/obo/MONDO_0015426 Desbuquois dysplasia 'Desbuquois dysplasia' SubClassOf 'developmental defect during embryogenesis' 'Desbuquois dysplasia' SubClassOf 'osteochondrodysplasia' 'Desbuquois dysplasia' SubClassOf 'developmental defect during embryogenesis' 'Desbuquois dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0015425 lethal recessive chondrodysplasia 'lethal recessive chondrodysplasia' SubClassOf 'genetic disorder' 'lethal recessive chondrodysplasia' SubClassOf 'chondrodysplasia' 'lethal recessive chondrodysplasia' SubClassOf 'genetic disorder' 'lethal recessive chondrodysplasia' SubClassOf 'chondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0015420 cleft lip and alveolus 'cleft lip and alveolus' SubClassOf 'orofacial cleft' 'cleft lip and alveolus' SubClassOf 'disorder of development or morphogenesis' 'cleft lip and alveolus' SubClassOf 'orofacial cleft' 'cleft lip and alveolus' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015431 ring chromosome 10 'ring chromosome 10' SubClassOf 'syndromic disease' 'ring chromosome 10' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015446 atypical coarctation of aorta 'atypical coarctation of aorta' SubClassOf 'Aortic Coarctation' 'atypical coarctation of aorta' SubClassOf 'Aortic Coarctation' http://purl.obolibrary.org/obo/MONDO_0015445 autosomal dominant coarctation of aorta 'autosomal dominant coarctation of aorta' SubClassOf 'Aortic Coarctation' 'autosomal dominant coarctation of aorta' SubClassOf 'Aortic Coarctation' http://purl.obolibrary.org/obo/MONDO_0015455 gonococcal conjunctivitis 'gonococcal conjunctivitis' SubClassOf 'gonorrhea' 'gonococcal conjunctivitis' SubClassOf 'bacterial conjunctivitis' 'gonococcal conjunctivitis' SubClassOf 'gonorrhea' 'gonococcal conjunctivitis' SubClassOf 'bacterial conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0015454 multiple carboxylase deficiency 'multiple carboxylase deficiency' SubClassOf 'inborn carbohydrate metabolic disorder' 'multiple carboxylase deficiency' SubClassOf 'classic organic aciduria' 'multiple carboxylase deficiency' SubClassOf 'inborn carbohydrate metabolic disorder' 'multiple carboxylase deficiency' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0015459 nasopharyngeal carcinoma 'nasopharyngeal carcinoma' SubClassOf 'malignant tumor of nasopharynx' 'nasopharyngeal carcinoma' SubClassOf 'Epstein-Barr virus-associated carcinoma' 'nasopharyngeal carcinoma' SubClassOf 'carcinoma of pharynx' 'nasopharyngeal carcinoma' SubClassOf 'head and neck carcinoma' 'nasopharyngeal carcinoma' SubClassOf 'malignant tumor of nasopharynx' 'nasopharyngeal carcinoma' SubClassOf 'Epstein-Barr virus-associated carcinoma' 'nasopharyngeal carcinoma' SubClassOf 'carcinoma of pharynx' 'nasopharyngeal carcinoma' SubClassOf 'head and neck carcinoma' http://purl.obolibrary.org/obo/MONDO_0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome 'Coffin-Siris syndrome' SubClassOf 'syndromic disease' 'Coffin-Siris syndrome' SubClassOf 'genetic disorder' 'Coffin-Siris syndrome' SubClassOf 'skeletal system disease' 'Coffin-Siris syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Coffin-Siris syndrome' SubClassOf 'syndromic disease' 'Coffin-Siris syndrome' SubClassOf 'genetic disorder' 'Coffin-Siris syndrome' SubClassOf 'skeletal system disease' 'Coffin-Siris syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015450 triatrial heart 'triatrial heart' SubClassOf 'congenital heart malformation' 'triatrial heart' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0015468 craniosynostosis-cataract syndrome 'craniosynostosis-cataract syndrome' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis-cataract syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015467 craniosynostosis, Philadelphia type 'craniosynostosis, Philadelphia type' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis, Philadelphia type' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015466 cranio-osteoarthropathy 'cranio-osteoarthropathy' SubClassOf 'primary hypertrophic osteoarthropathy' 'cranio-osteoarthropathy' SubClassOf 'primary hypertrophic osteoarthropathy' http://purl.obolibrary.org/obo/MONDO_0015469 craniosynostosis 'craniosynostosis' SubClassOf 'genetic disorder' 'craniosynostosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015464 craniofrontonasal dysplasia-Poland anomaly syndrome 'craniofrontonasal dysplasia-Poland anomaly syndrome' SubClassOf 'syndromic breast hypoplasia/aplasia' 'craniofrontonasal dysplasia-Poland anomaly syndrome' SubClassOf 'frontonasal dysplasia' 'craniofrontonasal dysplasia-Poland anomaly syndrome' SubClassOf 'syndromic breast hypoplasia/aplasia' 'craniofrontonasal dysplasia-Poland anomaly syndrome' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015463 craniodigital syndrome-intellectual disability syndrome 'craniodigital syndrome-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'craniodigital syndrome-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015462 thin ribs-tubular bones-dysmorphism syndrome 'thin ribs-tubular bones-dysmorphism syndrome' SubClassOf 'skeletal dysplasia' 'thin ribs-tubular bones-dysmorphism syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015461 short rib-polydactyly syndrome 'short rib-polydactyly syndrome' SubClassOf 'thoracic malformation' 'short rib-polydactyly syndrome' SubClassOf 'syndromic disease' 'short rib-polydactyly syndrome' SubClassOf 'short rib dysplasia' 'short rib-polydactyly syndrome' SubClassOf 'thoracic malformation' 'short rib-polydactyly syndrome' SubClassOf 'syndromic disease' 'short rib-polydactyly syndrome' SubClassOf 'short rib dysplasia' http://purl.obolibrary.org/obo/MONDO_0015476 cysts and fistulae of the face and oral cavity 'cysts and fistulae of the face and oral cavity' SubClassOf 'developmental defect during embryogenesis' 'cysts and fistulae of the face and oral cavity' SubClassOf 'otorhinolaryngologic disease' 'cysts and fistulae of the face and oral cavity' SubClassOf 'developmental defect during embryogenesis' 'cysts and fistulae of the face and oral cavity' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0015474 cryptosporidiosis 'cryptosporidiosis' SubClassOf 'parasitic intestinal disease' 'cryptosporidiosis' SubClassOf 'coccidiosis' 'cryptosporidiosis' SubClassOf 'parasitic intestinal disease' 'cryptosporidiosis' SubClassOf 'coccidiosis' http://purl.obolibrary.org/obo/MONDO_0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome 'cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cryptorchidism-arachnodactyly-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015481 coloboma of inferior eyelid 'coloboma of inferior eyelid' SubClassOf 'facial cleft' 'coloboma of inferior eyelid' SubClassOf 'coloboma of eyelid' 'coloboma of inferior eyelid' SubClassOf 'facial cleft' 'coloboma of inferior eyelid' SubClassOf 'coloboma of eyelid' http://purl.obolibrary.org/obo/MONDO_0015480 coloboma of superior eyelid 'coloboma of superior eyelid' SubClassOf 'facial cleft' 'coloboma of superior eyelid' SubClassOf 'coloboma of eyelid' 'coloboma of superior eyelid' SubClassOf 'facial cleft' 'coloboma of superior eyelid' SubClassOf 'coloboma of eyelid' http://purl.obolibrary.org/obo/MONDO_0015486 keratoconus 'keratoconus' SubClassOf 'corneal disease' 'keratoconus' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0015483 mandibulofacial dysostosis 'mandibulofacial dysostosis' SubClassOf 'otorhinolaryngologic disease' 'mandibulofacial dysostosis' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0015498 oromandibular-limb anomalies syndrome 'oromandibular-limb anomalies syndrome' SubClassOf 'dysostosis' 'oromandibular-limb anomalies syndrome' SubClassOf 'syndromic disease' 'oromandibular-limb anomalies syndrome' SubClassOf 'dysostosis' 'oromandibular-limb anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015493 lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy 'lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'hereditary lipodystrophy' 'lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy' SubClassOf 'hereditary lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0015492 anti-neutrophil cytoplasmic antibody-associated vasculitis 'anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf 'necrotizing vasculitis' 'anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf 'necrotizing vasculitis' http://purl.obolibrary.org/obo/MONDO_0015496 macroglossia 'macroglossia' SubClassOf 'disorder of facial skeleton' 'macroglossia' SubClassOf 'developmental defect during embryogenesis' 'macroglossia' SubClassOf 'disorder of facial skeleton' 'macroglossia' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0015494 isolated dystonia 'isolated dystonia' SubClassOf 'inherited dystonia' 'isolated dystonia' SubClassOf 'inherited dystonia' http://www.ebi.ac.uk/efo/EFO_0006719 mesonephric adenocarcinoma 'mesonephric adenocarcinoma' SubClassOf 'adenocarcinoma' 'mesonephric adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006718 ovarian leiomyosarcoma 'ovarian leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'ovarian leiomyosarcoma' SubClassOf 'ovarian sarcoma' 'ovarian leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'ovarian leiomyosarcoma' SubClassOf 'ovarian sarcoma' http://www.ebi.ac.uk/efo/EFO_0006732 pancreatic adenosquamous carcinoma 'pancreatic adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'pancreatic adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://www.ebi.ac.uk/efo/EFO_0006738 plasmacytoma 'plasmacytoma' SubClassOf 'plasma cell neoplasm' 'plasmacytoma' SubClassOf 'plasma cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0006740 pulmonary mucoepidermoid carcinoma 'pulmonary mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'pulmonary mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://www.ebi.ac.uk/efo/EFO_0006772 undifferentiated carcinoma 'undifferentiated carcinoma' SubClassOf 'carcinoma' 'undifferentiated carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0006792 Lewy body dementia 'Lewy body dementia' SubClassOf 'synucleinopathy' 'Lewy body dementia' SubClassOf 'synucleinopathy' http://www.ebi.ac.uk/efo/EFO_0006791 vascular brain injury 'vascular brain injury' SubClassOf 'brain injury' 'vascular brain injury' SubClassOf 'cerebrovascular disorder' 'vascular brain injury' SubClassOf 'brain injury' 'vascular brain injury' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0006790 cerebral amyloid angiopathy 'cerebral amyloid angiopathy' SubClassOf 'cerebrovascular disorder' 'cerebral amyloid angiopathy' SubClassOf 'hereditary amyloidosis' 'cerebral amyloid angiopathy' SubClassOf 'cerebrovascular disorder' 'cerebral amyloid angiopathy' SubClassOf 'hereditary amyloidosis' http://www.ebi.ac.uk/efo/EFO_0006789 typhoid fever 'typhoid fever' SubClassOf 'salmonellosis' 'typhoid fever' SubClassOf 'salmonellosis' http://www.ebi.ac.uk/efo/EFO_0006788 anxiety disorder 'anxiety disorder' SubClassOf 'mental or behavioural disorder' 'anxiety disorder' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/MONDO_0015519 congenital or early infantile CACH syndrome 'congenital or early infantile CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' 'congenital or early infantile CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0015518 infantile bilateral striatal necrosis 'infantile bilateral striatal necrosis' SubClassOf 'neurodegenerative disease' 'infantile bilateral striatal necrosis' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0015517 common variable immunodeficiency 'common variable immunodeficiency' SubClassOf 'hereditary neoplastic syndrome' 'common variable immunodeficiency' SubClassOf 'syndromic agammaglobulinemia' 'common variable immunodeficiency' SubClassOf 'hereditary neoplastic syndrome' 'common variable immunodeficiency' SubClassOf 'syndromic agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0015516 symbrachydactyly of hands and feet 'symbrachydactyly of hands and feet' SubClassOf 'non-syndromic brachydactyly' 'symbrachydactyly of hands and feet' SubClassOf 'non-syndromic brachydactyly' http://purl.obolibrary.org/obo/MONDO_0015515 carnitine palmitoyltransferase II deficiency 'carnitine palmitoyltransferase II deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'carnitine palmitoyltransferase II deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' http://purl.obolibrary.org/obo/MONDO_0015514 hereditary endocrine growth disease 'hereditary endocrine growth disease' SubClassOf 'endocrine system disease' 'hereditary endocrine growth disease' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0015528 congenital epulis 'congenital epulis' SubClassOf 'hamartoma' 'congenital epulis' SubClassOf 'epulis' 'congenital epulis' SubClassOf 'Soft Tissue Neoplasm' 'congenital epulis' SubClassOf 'hamartoma' 'congenital epulis' SubClassOf 'epulis' 'congenital epulis' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0015523 epithelioid hemangioendothelioma 'epithelioid hemangioendothelioma' SubClassOf 'vascular cancer' 'epithelioid hemangioendothelioma' SubClassOf 'hemangioendothelioma' 'epithelioid hemangioendothelioma' SubClassOf 'vascular cancer' 'epithelioid hemangioendothelioma' SubClassOf 'hemangioendothelioma' http://purl.obolibrary.org/obo/MONDO_0015521 juvenile or adult CACH syndrome 'juvenile or adult CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' 'juvenile or adult CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0015520 late infantile CACH syndrome 'late infantile CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' 'late infantile CACH syndrome' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0015526 cold-induced sweating syndrome 'cold-induced sweating syndrome' SubClassOf 'disease has major feature' some 'Cold-induced sweating' 'cold-induced sweating syndrome' SubClassOf 'cold-induced sweating syndrome - hyperthermia spectrum' 'cold-induced sweating syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cold-induced sweating' 'cold-induced sweating syndrome' SubClassOf 'cold-induced sweating syndrome - hyperthermia spectrum' http://purl.obolibrary.org/obo/MONDO_0015525 congenital pseudoarthrosis of the limbs 'congenital pseudoarthrosis of the limbs' SubClassOf 'dysostosis' 'congenital pseudoarthrosis of the limbs' SubClassOf 'genetic disorder' 'congenital pseudoarthrosis of the limbs' SubClassOf 'dysostosis' 'congenital pseudoarthrosis of the limbs' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015524 hyperplastic polyposis syndrome 'hyperplastic polyposis syndrome' SubClassOf 'digestive system disease' 'hyperplastic polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'hyperplastic polyposis syndrome' SubClassOf 'digestive system disease' 'hyperplastic polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0030933 Joubert syndrome 37 'Joubert syndrome 37' SubClassOf 'Joubert syndrome' 'Joubert syndrome 37' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0030935 mitochondrial complex 2 deficiency, nuclear type 2 'mitochondrial complex 2 deficiency, nuclear type 2' SubClassOf 'mitochondrial complex II deficiency, nuclear type' 'mitochondrial complex 2 deficiency, nuclear type 2' SubClassOf 'mitochondrial complex II deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0030934 intellectual developmental disorder, autosomal dominant 64 'intellectual developmental disorder, autosomal dominant 64' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual developmental disorder, autosomal dominant 64' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0030931 proteasome-associated autoinflammatory syndrome 4 'proteasome-associated autoinflammatory syndrome 4' SubClassOf 'proteosome-associated autoinflammatory syndrome' 'proteasome-associated autoinflammatory syndrome 4' SubClassOf 'proteosome-associated autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0030937 mitochondrial complex 2 deficiency, nuclear type 3 'mitochondrial complex 2 deficiency, nuclear type 3' SubClassOf 'mitochondrial complex II deficiency, nuclear type' 'mitochondrial complex 2 deficiency, nuclear type 3' SubClassOf 'mitochondrial complex II deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0030936 epilepsy, progressive myoclonic, 12 'epilepsy, progressive myoclonic, 12' SubClassOf 'progressive myoclonus epilepsy' 'epilepsy, progressive myoclonic, 12' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0030939 premature ovarian failure 18 'premature ovarian failure 18' SubClassOf 'inherited primary ovarian failure' 'premature ovarian failure 18' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0030938 spermatogenic failure 52 'spermatogenic failure 52' SubClassOf 'azoospermia' 'spermatogenic failure 52' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030922 intellectual disability, autosomal dominant 56 'intellectual disability, autosomal dominant 56' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 56' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030924 proteasome-associated autoinflammatory syndrome 5 'proteasome-associated autoinflammatory syndrome 5' SubClassOf 'proteosome-associated autoinflammatory syndrome' 'proteasome-associated autoinflammatory syndrome 5' SubClassOf 'proteosome-associated autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0030923 frontotemporal dementia and/or amyotrophic lateral sclerosis 'frontotemporal dementia and/or amyotrophic lateral sclerosis' SubClassOf 'inherited neurodegenerative disorder' 'frontotemporal dementia and/or amyotrophic lateral sclerosis' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0030929 microcephaly 27, primary, autosomal dominant 'microcephaly 27, primary, autosomal dominant' SubClassOf 'autosomal dominant primary microcephaly' 'microcephaly 27, primary, autosomal dominant' SubClassOf 'autosomal dominant primary microcephaly' http://purl.obolibrary.org/obo/MONDO_0015308 laminopathy type Decaudain-Vigouroux 'laminopathy type Decaudain-Vigouroux' SubClassOf 'hyperlipidemia' 'laminopathy type Decaudain-Vigouroux' SubClassOf 'hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0030926 spermatogenic failure 51 'spermatogenic failure 51' SubClassOf 'azoospermia' 'spermatogenic failure 51' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030925 oocyte maturation defect 10 'oocyte maturation defect 10' SubClassOf 'inherited oocyte maturation defect' 'oocyte maturation defect 10' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0030927 myofibrillar myopathy 11 'myofibrillar myopathy 11' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 11' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0015301 primary cutaneous amyloidosis 'primary cutaneous amyloidosis' SubClassOf 'dermis disorder' 'primary cutaneous amyloidosis' SubClassOf 'amyloidosis' 'primary cutaneous amyloidosis' SubClassOf 'dermis disorder' 'primary cutaneous amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0015300 cataract - microcornea syndrome 'cataract - microcornea syndrome' SubClassOf 'syndromic disease' 'cataract - microcornea syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015307 Madras motor neuron disease 'Madras motor neuron disease' SubClassOf 'motor neuron disease' 'Madras motor neuron disease' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0030957 developmental and epileptic encephalopathy 103 'developmental and epileptic encephalopathy 103' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 103' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2' SubClassOf 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2' SubClassOf 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' http://purl.obolibrary.org/obo/MONDO_0015311 autism-facial port-wine stain syndrome 'autism-facial port-wine stain syndrome' SubClassOf 'syndromic disease' 'autism-facial port-wine stain syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0030941 erythrokeratodermia variabilis et progressiva 7 'erythrokeratodermia variabilis et progressiva 7' SubClassOf 'erythrokeratodermia variabilis' 'erythrokeratodermia variabilis et progressiva 7' SubClassOf 'erythrokeratodermia variabilis' http://purl.obolibrary.org/obo/MONDO_0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 'neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities' SubClassOf 'genetic disorder' 'neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015325 cataract-deafness-hypogonadism syndrome 'cataract-deafness-hypogonadism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cataract-deafness-hypogonadism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'syndromic disease' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'syndromic disease' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015327 developmental anomaly of metabolic origin 'developmental anomaly of metabolic origin' SubClassOf 'developmental defect during embryogenesis' 'developmental anomaly of metabolic origin' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0015326 night blindness-skeletal anomalies-dysmorphism syndrome 'night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 'neuronopathy, distal hereditary motor, autosomal recessive 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0030976 oculomotor-abducens synkinesis 'oculomotor-abducens synkinesis' SubClassOf 'genetic disorder' 'oculomotor-abducens synkinesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030979 endove syndrome, limb-brain type 'endove syndrome, limb-brain type' SubClassOf 'genetic disorder' 'endove syndrome, limb-brain type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030973 immunodeficiency 77 'immunodeficiency 77' SubClassOf 'immunodeficiency disease' 'immunodeficiency 77' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030972 spermatogenic failure 74 'spermatogenic failure 74' SubClassOf 'azoospermia' 'spermatogenic failure 74' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030975 premature ovarian failure 20 'premature ovarian failure 20' SubClassOf 'inherited primary ovarian failure' 'premature ovarian failure 20' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0030974 mitochondrial complex 2 deficiency, nuclear type 4 'mitochondrial complex 2 deficiency, nuclear type 4' SubClassOf 'mitochondrial complex II deficiency, nuclear type' 'mitochondrial complex 2 deficiency, nuclear type 4' SubClassOf 'mitochondrial complex II deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0015333 progeroid syndrome 'progeroid syndrome' SubClassOf 'premature aging syndrome' 'progeroid syndrome' SubClassOf 'developmental defect during embryogenesis' 'progeroid syndrome' SubClassOf 'premature aging syndrome' 'progeroid syndrome' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0015339 adrenomyeloneuropathy 'adrenomyeloneuropathy' SubClassOf 'hereditary peripheral neuropathy' 'adrenomyeloneuropathy' SubClassOf 'adrenoleukodystrophy' 'adrenomyeloneuropathy' SubClassOf 'hereditary peripheral neuropathy' 'adrenomyeloneuropathy' SubClassOf 'adrenoleukodystrophy' http://purl.obolibrary.org/obo/MONDO_0015338 syndromic craniosynostosis 'syndromic craniosynostosis' SubClassOf 'craniosynostosis' 'syndromic craniosynostosis' SubClassOf 'skeletal dysplasia' 'syndromic craniosynostosis' SubClassOf 'craniosynostosis' 'syndromic craniosynostosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015337 isolated craniosynostosis 'isolated craniosynostosis' SubClassOf 'craniosynostosis' 'isolated craniosynostosis' SubClassOf 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0030971 immunodeficiency 78 with autoimmunity and developmental delay 'immunodeficiency 78 with autoimmunity and developmental delay' SubClassOf 'immunodeficiency disease' 'immunodeficiency 78 with autoimmunity and developmental delay' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030970 immunodeficiency 106, susceptibility to viral infections 'immunodeficiency 106, susceptibility to viral infections' SubClassOf 'immunodeficiency disease' 'immunodeficiency 106, susceptibility to viral infections' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030966 neurofacioskeletal syndrome with or without renal agenesis 'neurofacioskeletal syndrome with or without renal agenesis' SubClassOf 'genetic disorder' 'neurofacioskeletal syndrome with or without renal agenesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy 'deafness, congenital, and adult-onset progressive leukoencephalopathy' SubClassOf 'genetic disorder' 'deafness, congenital, and adult-onset progressive leukoencephalopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030964 intellectual developmental disorder, autosomal dominant 67 'intellectual developmental disorder, autosomal dominant 67' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual developmental disorder, autosomal dominant 67' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0030963 Li-Campeau syndrome 'Li-Campeau syndrome' SubClassOf 'genetic disorder' 'Li-Campeau syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015346 Jeavons syndrome 'Jeavons syndrome' SubClassOf 'childhood-onset epilepsy syndrome' 'Jeavons syndrome' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0015344 idiopathic acute transverse myelitis 'idiopathic acute transverse myelitis' SubClassOf 'acute transverse myelitis' 'idiopathic acute transverse myelitis' SubClassOf 'acute transverse myelitis' http://purl.obolibrary.org/obo/MONDO_0015349 progressive cavitating leukoencephalopathy 'progressive cavitating leukoencephalopathy' SubClassOf 'leukodystrophy' 'progressive cavitating leukoencephalopathy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts 'leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'leukodystrophy' 'leukoencephalopathy with bilateral anterior temporal lobe cysts' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0015342 acute transverse myelitis 'acute transverse myelitis' SubClassOf 'Myelitis' 'acute transverse myelitis' SubClassOf 'Myelitis' http://purl.obolibrary.org/obo/MONDO_0030998 hearing loss, autosomal dominant 80 'hearing loss, autosomal dominant 80' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 80' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0030995 global developmental delay with speech and behavioral abnormalities 'global developmental delay with speech and behavioral abnormalities' SubClassOf 'genetic disorder' 'global developmental delay with speech and behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030997 mitochondrial complex 1 deficiency, nuclear type 37 'mitochondrial complex 1 deficiency, nuclear type 37' SubClassOf 'mitochondrial complex I deficiency, nuclear type' 'mitochondrial complex 1 deficiency, nuclear type 37' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0030996 bleeding disorder, platelet-type, 24 'bleeding disorder, platelet-type, 24' SubClassOf 'inherited bleeding disorder, platelet-type' 'bleeding disorder, platelet-type, 24' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0015358 hereditary motor and sensory neuropathy 'hereditary motor and sensory neuropathy' SubClassOf 'hereditary peripheral neuropathy' 'hereditary motor and sensory neuropathy' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome 'hereditary neoplastic syndrome' SubClassOf 'predisposes towards' some 'neoplasm' 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neoplasm') 'hereditary neoplastic syndrome' SubClassOf 'genetic disorder' 'hereditary neoplastic syndrome' SubClassOf 'neoplastic syndrome' 'hereditary neoplastic syndrome' SubClassOf 'genetic disorder' 'hereditary neoplastic syndrome' SubClassOf 'neoplastic syndrome' 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neoplasm') 'hereditary neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0015355 distal hereditary motor neuropathy type 7 'distal hereditary motor neuropathy type 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'distal hereditary motor neuropathy type 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0015350 17q11.2 microduplication syndrome '17q11.2 microduplication syndrome' SubClassOf 'genetic disorder' '17q11.2 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' '17q11.2 microduplication syndrome' SubClassOf 'genetic disorder' '17q11.2 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0030991 bile acid conjugation defect 1 'bile acid conjugation defect 1' SubClassOf 'genetic disorder' 'bile acid conjugation defect 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030990 Kohlschutter-Tonz syndrome-like 'Kohlschutter-Tonz syndrome-like' SubClassOf 'genetic disorder' 'Kohlschutter-Tonz syndrome-like' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 'Tessadori-Van Haaften neurodevelopmental syndrome 3' SubClassOf 'Tessadori-Van-Haaften neurodevelopmental syndrome' 'Tessadori-Van Haaften neurodevelopmental syndrome 3' SubClassOf 'Tessadori-Van-Haaften neurodevelopmental syndrome' http://purl.obolibrary.org/obo/MONDO_0030992 short stature, oligodontia, dysmorphic facies, and motor delay 'short stature, oligodontia, dysmorphic facies, and motor delay' SubClassOf 'genetic disorder' 'short stature, oligodontia, dysmorphic facies, and motor delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015354 hereditary sensory and autonomic neuropathy with deafness and global delay 'hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'genetic disorder' 'hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'syndromic disease' 'hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'genetic disorder' 'hereditary sensory and autonomic neuropathy with deafness and global delay' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015353 neuronopathy, distal hereditary motor, type 5A 'neuronopathy, distal hereditary motor, type 5A' SubClassOf 'neuronopathy, distal hereditary motor, type 5' 'neuronopathy, distal hereditary motor, type 5A' SubClassOf 'neuronopathy, distal hereditary motor, type 5' http://purl.obolibrary.org/obo/MONDO_0015352 distal hereditary motor neuropathy type 2 'distal hereditary motor neuropathy type 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'distal hereditary motor neuropathy type 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0030988 developmental delay with dysmorphic facies and dental anomalies 'developmental delay with dysmorphic facies and dental anomalies' SubClassOf 'genetic disorder' 'developmental delay with dysmorphic facies and dental anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects 'vertebral, cardiac, tracheoesophageal, renal, and limb defects' SubClassOf 'genetic disorder' 'vertebral, cardiac, tracheoesophageal, renal, and limb defects' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030983 Waardenburg syndrome, IIa 2F 'Waardenburg syndrome, IIa 2F' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome, IIa 2F' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0030986 blistering, acantholytic, of oral and laryngeal mucosa 'blistering, acantholytic, of oral and laryngeal mucosa' SubClassOf 'genetic disorder' 'blistering, acantholytic, of oral and laryngeal mucosa' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030985 premature ovarian failure 19 'premature ovarian failure 19' SubClassOf 'inherited primary ovarian failure' 'premature ovarian failure 19' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0015369 Joubert syndrome and related disorders 'Joubert syndrome and related disorders' SubClassOf 'autosomal recessive congenital cerebellar ataxia' 'Joubert syndrome and related disorders' SubClassOf 'autosomal recessive congenital cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0015367 Charlie M syndrome 'Charlie M syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Charlie M syndrome' SubClassOf 'oromandibular-limb hypogenesis syndrome' 'Charlie M syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Charlie M syndrome' SubClassOf 'oromandibular-limb hypogenesis syndrome' http://purl.obolibrary.org/obo/MONDO_0030982 sulfide quinone oxidoreductase deficiency 'sulfide quinone oxidoreductase deficiency' SubClassOf 'inborn errors of metabolism' 'sulfide quinone oxidoreductase deficiency' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0030981 immunodeficiency 79 'immunodeficiency 79' SubClassOf 'severe combined immunodeficiency' 'immunodeficiency 79' SubClassOf 'severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015364 hereditary sensory and autonomic neuropathy 'hereditary sensory and autonomic neuropathy' SubClassOf 'sensory peripheral neuropathy' 'hereditary sensory and autonomic neuropathy' SubClassOf 'hereditary peripheral neuropathy' 'hereditary sensory and autonomic neuropathy' SubClassOf 'sensory peripheral neuropathy' 'hereditary sensory and autonomic neuropathy' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0015363 neuronopathy, distal hereditary motor, autosomal recessive 'neuronopathy, distal hereditary motor, autosomal recessive' SubClassOf 'distal hereditary motor neuropathy' 'neuronopathy, distal hereditary motor, autosomal recessive' SubClassOf 'distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0015362 neuronopathy, distal hereditary motor, autosomal dominant 'neuronopathy, distal hereditary motor, autosomal dominant' SubClassOf 'spinal muscular atrophy' 'neuronopathy, distal hereditary motor, autosomal dominant' SubClassOf 'autosomal dominant disease' 'neuronopathy, distal hereditary motor, autosomal dominant' SubClassOf 'distal hereditary motor neuropathy' 'neuronopathy, distal hereditary motor, autosomal dominant' SubClassOf 'spinal muscular atrophy' 'neuronopathy, distal hereditary motor, autosomal dominant' SubClassOf 'autosomal dominant disease' 'neuronopathy, distal hereditary motor, autosomal dominant' SubClassOf 'distal hereditary motor neuropathy' http://purl.obolibrary.org/obo/MONDO_0015372 autosomal dominant macrothrombocytopenia 'autosomal dominant macrothrombocytopenia' SubClassOf 'inherited thrombocytopenia' 'autosomal dominant macrothrombocytopenia' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0015371 linear atrophoderma of Moulin 'linear atrophoderma of Moulin' SubClassOf 'dermis disorder' 'linear atrophoderma of Moulin' SubClassOf 'dermis disorder' http://purl.obolibrary.org/obo/MONDO_0015375 orofaciodigital syndrome 'orofaciodigital syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' 'orofaciodigital syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' http://purl.obolibrary.org/obo/MONDO_0015374 primary central nervous system vasculitis 'primary central nervous system vasculitis' SubClassOf 'central nervous system vasculitis' 'primary central nervous system vasculitis' SubClassOf 'central nervous system vasculitis' http://purl.obolibrary.org/obo/MONDO_0015384 digestive duplication cyst of the tongue 'digestive duplication cyst of the tongue' SubClassOf 'cysts and fistulae of the face and oral cavity' 'digestive duplication cyst of the tongue' SubClassOf 'cysts and fistulae of the face and oral cavity' http://purl.obolibrary.org/obo/MONDO_0015399 glossopalatine ankylosis 'glossopalatine ankylosis' SubClassOf 'oromandibular-limb hypogenesis syndrome' 'glossopalatine ankylosis' SubClassOf 'oromandibular-limb hypogenesis syndrome' http://purl.obolibrary.org/obo/MONDO_0015394 nasal encephalocele 'nasal encephalocele' SubClassOf 'otorhinolaryngologic disease' 'nasal encephalocele' SubClassOf 'isolated encephalocele' 'nasal encephalocele' SubClassOf 'otorhinolaryngologic disease' 'nasal encephalocele' SubClassOf 'isolated encephalocele' http://purl.obolibrary.org/obo/MONDO_0015391 nasopharyngeal teratoma 'nasopharyngeal teratoma' SubClassOf 'extragonadal teratoma' 'nasopharyngeal teratoma' SubClassOf 'extragonadal teratoma' http://purl.obolibrary.org/obo/MONDO_0015397 craniofacial microsomia 'craniofacial microsomia' SubClassOf 'neurocristopathy' 'craniofacial microsomia' SubClassOf 'syndromic disease' 'craniofacial microsomia' SubClassOf 'neurocristopathy' 'craniofacial microsomia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015405 cerebrofacial arteriovenous metameric syndrome 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'arteriovenous hemangioma/malformation' 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'arteriovenous hemangioma/malformation' http://purl.obolibrary.org/obo/MONDO_0030813 immunodeficiency 101 (varicella zoster virus-specific) 'immunodeficiency 101 (varicella zoster virus-specific)' SubClassOf 'immunodeficiency disease' 'immunodeficiency 101 (varicella zoster virus-specific)' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030819 meckel syndrome 14 'meckel syndrome 14' SubClassOf 'Meckel syndrome' 'meckel syndrome 14' SubClassOf 'Meckel syndrome' http://purl.obolibrary.org/obo/MONDO_0030818 spermatogenic failure 73 'spermatogenic failure 73' SubClassOf 'azoospermia' 'spermatogenic failure 73' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 'monosomy 7 myelodysplasia and leukemia syndrome 2' SubClassOf 'familial monosomy 7 syndrome' 'monosomy 7 myelodysplasia and leukemia syndrome 2' SubClassOf 'familial monosomy 7 syndrome' http://purl.obolibrary.org/obo/MONDO_0030800 cholestasis, progressive familial intrahepatic, 9 'cholestasis, progressive familial intrahepatic, 9' SubClassOf 'progressive familial intrahepatic cholestasis' 'cholestasis, progressive familial intrahepatic, 9' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0030809 spermatogenic failure 72 'spermatogenic failure 72' SubClassOf 'azoospermia' 'spermatogenic failure 72' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030805 spinocerebellar ataxia 49 'spinocerebellar ataxia 49' SubClassOf 'autosomal dominant cerebellar ataxia' 'spinocerebellar ataxia 49' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0030835 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 'developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy' SubClassOf 'genetic disorder' 'developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030839 thyroid hormone metabolism, abnormal, 2 'thyroid hormone metabolism, abnormal, 2' SubClassOf 'thyroid hormone metabolism, abnormal' 'thyroid hormone metabolism, abnormal, 2' SubClassOf 'thyroid hormone metabolism, abnormal' http://purl.obolibrary.org/obo/MONDO_0030827 macrothrombocytopenia, isolated, 2, autosomal dominant 'macrothrombocytopenia, isolated, 2, autosomal dominant' SubClassOf 'macrothrombocytopenia, isolated' 'macrothrombocytopenia, isolated, 2, autosomal dominant' SubClassOf 'macrothrombocytopenia, isolated' http://purl.obolibrary.org/obo/MONDO_0015204 microlissencephaly 'microlissencephaly' SubClassOf 'lissencephaly spectrum disorders' 'microlissencephaly' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0015201 ankyloblepharon filiforme-imperforate anus syndrome 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'developmental defect during embryogenesis' 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'disorder of visual system' 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'syndromic disease' 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'developmental defect during embryogenesis' 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'disorder of visual system' 'ankyloblepharon filiforme-imperforate anus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015206 short stature-heart defect-craniofacial anomalies syndrome 'short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0015205 isolated lissencephaly type 1 without known genetic defects 'isolated lissencephaly type 1 without known genetic defects' SubClassOf 'classic lissencephaly' 'isolated lissencephaly type 1 without known genetic defects' SubClassOf 'classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0030856 developmental and epileptic encephalopathy 89 'developmental and epileptic encephalopathy 89' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 89' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 'combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2' SubClassOf 'Ehlers-Danlos/osteogenesis imperfecta syndrome' 'combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2' SubClassOf 'Ehlers-Danlos/osteogenesis imperfecta syndrome' http://purl.obolibrary.org/obo/MONDO_0030858 immunodeficiency 75 'immunodeficiency 75' SubClassOf 'immunodeficiency disease' 'immunodeficiency 75' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 'combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1' SubClassOf 'Ehlers-Danlos/osteogenesis imperfecta syndrome' 'combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1' SubClassOf 'Ehlers-Danlos/osteogenesis imperfecta syndrome' http://purl.obolibrary.org/obo/MONDO_0030844 spermatogenic failure 47 'spermatogenic failure 47' SubClassOf 'azoospermia' 'spermatogenic failure 47' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054833 charcot-marie-tooth disease, axonal, type 2DD 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0030847 arthrogryposis, distal, type 1C 'arthrogryposis, distal, type 1C' SubClassOf 'distal arthrogryposis' 'arthrogryposis, distal, type 1C' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0030846 spermatogenic failure 48 'spermatogenic failure 48' SubClassOf 'azoospermia' 'spermatogenic failure 48' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054837 intellectual disability, autosomal dominant 57 'intellectual disability, autosomal dominant 57' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 57' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0054835 classic dopamine transporter deficiency syndrome 'classic dopamine transporter deficiency syndrome' SubClassOf 'SLC6A3-related dopamine transporter deficiency syndrome' 'classic dopamine transporter deficiency syndrome' SubClassOf 'parkinsonism-dystonia, infantile' 'classic dopamine transporter deficiency syndrome' SubClassOf 'SLC6A3-related dopamine transporter deficiency syndrome' 'classic dopamine transporter deficiency syndrome' SubClassOf 'parkinsonism-dystonia, infantile' http://purl.obolibrary.org/obo/MONDO_0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy 'intellectual developmental disorder with speech delay and axonal peripheral neuropathy' SubClassOf 'genetic disorder' 'intellectual developmental disorder with speech delay and axonal peripheral neuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome 'arthrogryposis syndrome' SubClassOf 'congenital limb malformation' 'arthrogryposis syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'autosomal recessive disease' 'Bardet-Biedl syndrome' SubClassOf 'syndromic disease' 'Bardet-Biedl syndrome' SubClassOf 'autosomal recessive disease' 'Bardet-Biedl syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015228 pentasomy X 'pentasomy X' SubClassOf 'syndromic disease' 'pentasomy X' SubClassOf 'pentasomy' 'pentasomy X' SubClassOf 'syndromic disease' 'pentasomy X' SubClassOf 'pentasomy' http://purl.obolibrary.org/obo/MONDO_0030878 Kaya-Barakat-Masson syndrome 'Kaya-Barakat-Masson syndrome' SubClassOf 'genetic disorder' 'Kaya-Barakat-Masson syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030877 cardioacrofacial dysplasia 2 'cardioacrofacial dysplasia 2' SubClassOf 'cardioacrofacial dysplasia' 'cardioacrofacial dysplasia 2' SubClassOf 'cardioacrofacial dysplasia' http://purl.obolibrary.org/obo/MONDO_0030873 cardiofacioneurodevelopmental syndrome 'cardiofacioneurodevelopmental syndrome' SubClassOf 'genetic disorder' 'cardiofacioneurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030876 cardioacrofacial dysplasia 1 'cardioacrofacial dysplasia 1' SubClassOf 'cardioacrofacial dysplasia' 'cardioacrofacial dysplasia 1' SubClassOf 'cardioacrofacial dysplasia' http://purl.obolibrary.org/obo/MONDO_0015236 aortic arch defects 'aortic arch defects' SubClassOf 'congenital anomaly of the great arteries' 'aortic arch defects' SubClassOf 'congenital anomaly of the great arteries' http://purl.obolibrary.org/obo/MONDO_0015235 arachnodactyly-intellectual disability-dysmorphism syndrome 'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome 'arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'arachnodactyly-abnormal ossification-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015238 arrhinia-choanal atresia-microphthalmia syndrome 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030871 vertebral hypersegmentation and orofacial anomalies 'vertebral hypersegmentation and orofacial anomalies' SubClassOf 'genetic disorder' 'vertebral hypersegmentation and orofacial anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015233 caudal appendage-deafness syndrome 'caudal appendage-deafness syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'caudal appendage-deafness syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015232 radial deficiency-tibial hypoplasia syndrome 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'dysostosis' 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'congenital limb malformation' 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'genetic disorder' 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'dysostosis' 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'congenital limb malformation' 'radial deficiency-tibial hypoplasia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015231 Bartter syndrome 'Bartter syndrome' SubClassOf 'syndromic disease' 'Bartter syndrome' SubClassOf 'renal tubular transport disease' 'Bartter syndrome' SubClassOf 'inherited renal tubular disease' 'Bartter syndrome' SubClassOf 'syndromic disease' 'Bartter syndrome' SubClassOf 'renal tubular transport disease' 'Bartter syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'syndromic disease' 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0030867 thrombocytopenia 7 'thrombocytopenia 7' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia 7' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0030869 spermatogenic failures 50 'spermatogenic failures 50' SubClassOf 'azoospermia' 'spermatogenic failures 50' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030868 spermatogenic failure 49 'spermatogenic failure 49' SubClassOf 'azoospermia' 'spermatogenic failure 49' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054813 Ehlers-Danlos syndrome, classic-like, 2 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0054817 leukodystrophy, hypomyelinating, 17 'leukodystrophy, hypomyelinating, 17' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 17' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0015249 mitral atresia disorder 'mitral atresia disorder' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' 'mitral atresia disorder' SubClassOf 'congenital heart disease' 'mitral atresia disorder' SubClassOf 'mitral valve disease' 'mitral atresia disorder' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' 'mitral atresia disorder' SubClassOf 'congenital heart disease' 'mitral atresia disorder' SubClassOf 'mitral valve disease' http://purl.obolibrary.org/obo/MONDO_0015240 digitotalar dysmorphism 'digitotalar dysmorphism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'digitotalar dysmorphism' SubClassOf 'distal arthrogryposis' 'digitotalar dysmorphism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'digitotalar dysmorphism' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0030861 osteogenesis imperfecta, type 21 'osteogenesis imperfecta, type 21' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta, type 21' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0030860 neuronopathy, distal hereditary motor, type 5C 'neuronopathy, distal hereditary motor, type 5C' SubClassOf 'neuronopathy, distal hereditary motor, type 5' 'neuronopathy, distal hereditary motor, type 5C' SubClassOf 'neuronopathy, distal hereditary motor, type 5' http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia 'autosomal recessive cerebellar ataxia' SubClassOf 'hereditary cerebellar ataxia' 'autosomal recessive cerebellar ataxia' SubClassOf 'hereditary cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0015241 arthrogryposis-like syndrome 'arthrogryposis-like syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis-like syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0030899 oculocutaneous albinism type 8 'oculocutaneous albinism type 8' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 8' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to mitochondrial and peroxisomal fission defect 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'disorder of defective peroxisomal and mitochondrial fission' 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'disorder of defective peroxisomal and mitochondrial fission' http://purl.obolibrary.org/obo/MONDO_0030896 chromosome 13q33-q34 deletion syndrome 'chromosome 13q33-q34 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 13' 'chromosome 13q33-q34 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 13' http://purl.obolibrary.org/obo/MONDO_0030895 nephrotic syndrome, type 22 'nephrotic syndrome, type 22' SubClassOf 'familial nephrotic syndrome' 'nephrotic syndrome, type 22' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0030898 immunodeficiency 76 'immunodeficiency 76' SubClassOf 'immunodeficiency disease' 'immunodeficiency 76' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030897 Lessel-Kreienkamp syndrome 'Lessel-Kreienkamp syndrome' SubClassOf 'genetic disorder' 'Lessel-Kreienkamp syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome 'brachydactyly-mesomelia-intellectual disability-heart defects syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'brachydactyly-mesomelia-intellectual disability-heart defects syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015257 sino-auricular heart block 'sino-auricular heart block' SubClassOf 'cardiac rhythm disease' 'sino-auricular heart block' SubClassOf 'cardiac rhythm disease' http://purl.obolibrary.org/obo/MONDO_0015256 blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 'blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015250 spinal atrophy-ophthalmoplegia-pyramidal syndrome 'spinal atrophy-ophthalmoplegia-pyramidal syndrome' SubClassOf 'bulbospinal muscular atrophy' 'spinal atrophy-ophthalmoplegia-pyramidal syndrome' SubClassOf 'bulbospinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0030894 AMED syndrome, digenic 'AMED syndrome, digenic' SubClassOf 'bone marrow failure syndrome' 'AMED syndrome, digenic' SubClassOf 'bone marrow failure syndrome' http://purl.obolibrary.org/obo/MONDO_0030893 leukoencephalopathy, progressive, infantile-onset, with or without deafness 'leukoencephalopathy, progressive, infantile-onset, with or without deafness' SubClassOf 'genetic disorder' 'leukoencephalopathy, progressive, infantile-onset, with or without deafness' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015253 Diamond-Blackfan anemia 'Diamond-Blackfan anemia' SubClassOf 'pure red-cell aplasia' 'Diamond-Blackfan anemia' SubClassOf 'inherited aplastic anemia' 'Diamond-Blackfan anemia' SubClassOf 'pure red-cell aplasia' 'Diamond-Blackfan anemia' SubClassOf 'inherited aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0030890 pontocerebellar hypoplasia, IIA 17 'pontocerebellar hypoplasia, IIA 17' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia, IIA 17' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0054860 hearing loss, autosomal recessive 110 'hearing loss, autosomal recessive 110' SubClassOf 'hearing loss, autosomal recessive' 'hearing loss, autosomal recessive 110' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0030887 cardiomyopathy, dilated, 2G 'cardiomyopathy, dilated, 2G' SubClassOf 'familial dilated cardiomyopathy' 'cardiomyopathy, dilated, 2G' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0015268 medullary sponge kidney 'medullary sponge kidney' SubClassOf 'Cystic Kidney Disease' 'medullary sponge kidney' SubClassOf 'disorder of development or morphogenesis' 'medullary sponge kidney' SubClassOf 'Cystic Kidney Disease' 'medullary sponge kidney' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0015267 Feingold syndrome 'Feingold syndrome' SubClassOf 'autosomal dominant disease' 'Feingold syndrome' SubClassOf 'syndromic disease' 'Feingold syndrome' SubClassOf 'autosomal dominant disease' 'Feingold syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015262 brachyolmia 'brachyolmia' SubClassOf 'osteochondrodysplasia' 'brachyolmia' SubClassOf 'spondylodysplastic dysplasia' 'brachyolmia' SubClassOf 'osteochondrodysplasia' 'brachyolmia' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0030880 mandibuloacral dysplasia progeroid syndrome 'mandibuloacral dysplasia progeroid syndrome' SubClassOf 'genetic disorder' 'mandibuloacral dysplasia progeroid syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015263 Brugada syndrome 'Brugada syndrome' SubClassOf 'syndromic disease' 'Brugada syndrome' SubClassOf 'heart conduction disease' 'Brugada syndrome' SubClassOf 'syndromic disease' 'Brugada syndrome' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0054845 developmental and epileptic encephalopathy, 66 'developmental and epileptic encephalopathy, 66' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 66' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0054843 ciliary dyskinesia, primary, 38 'ciliary dyskinesia, primary, 38' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 38' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease 'polycystic kidney disease 6 with or without polycystic liver disease' SubClassOf 'Autosomal dominant polycystic kidney disease' 'polycystic kidney disease 6 with or without polycystic liver disease' SubClassOf 'Autosomal dominant polycystic kidney disease' http://purl.obolibrary.org/obo/MONDO_0015280 cardiofaciocutaneous syndrome 'cardiofaciocutaneous syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cardiofaciocutaneous syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'cardiofaciocutaneous syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'cardiofaciocutaneous syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cardiofaciocutaneous syndrome' SubClassOf 'Noonan syndrome and Noonan-related syndrome' 'cardiofaciocutaneous syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015279 chronic mucocutaneous candidiasis 'chronic mucocutaneous candidiasis' SubClassOf 'inborn error of immunity' 'chronic mucocutaneous candidiasis' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0015278 familial pancreatic carcinoma 'familial pancreatic carcinoma' SubClassOf 'pancreatic carcinoma' 'familial pancreatic carcinoma' SubClassOf 'pancreatic carcinoma' http://purl.obolibrary.org/obo/MONDO_0015273 complete atrioventricular canal 'complete atrioventricular canal' SubClassOf 'familial atrioventricular septal defect' 'complete atrioventricular canal' SubClassOf 'familial atrioventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0015272 camptodactyly-taurinuria syndrome 'camptodactyly-taurinuria syndrome' SubClassOf 'congenital limb malformation' 'camptodactyly-taurinuria syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0015271 idiopathic camptocormia 'idiopathic camptocormia' SubClassOf 'acquired skeletal muscle disease' 'idiopathic camptocormia' SubClassOf 'acquired skeletal muscle disease' http://purl.obolibrary.org/obo/MONDO_0015270 butyrylcholinesterase deficiency 'butyrylcholinesterase deficiency' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' 'butyrylcholinesterase deficiency' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' http://purl.obolibrary.org/obo/MONDO_0015277 medullary thyroid gland carcinoma 'medullary thyroid gland carcinoma' SubClassOf 'follicular thyroid carcinoma' 'medullary thyroid gland carcinoma' SubClassOf 'neuroendocrine carcinoma' 'medullary thyroid gland carcinoma' SubClassOf 'follicular thyroid carcinoma' 'medullary thyroid gland carcinoma' SubClassOf 'neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0015289 infectious epithelial keratitis 'infectious epithelial keratitis' SubClassOf 'viral eye infection' 'infectious epithelial keratitis' SubClassOf 'viral eye infection' http://purl.obolibrary.org/obo/MONDO_0015284 heart-hand syndrome type 2 'heart-hand syndrome type 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart-hand syndrome type 2' SubClassOf 'heart-hand syndrome' 'heart-hand syndrome type 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart-hand syndrome type 2' SubClassOf 'heart-hand syndrome' http://purl.obolibrary.org/obo/MONDO_0015283 maternally-inherited cardiomyopathy and hearing loss 'maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'mitochondrial disease' 'maternally-inherited cardiomyopathy and hearing loss' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0015282 cardiomyopathy-cataract-hip spine disease syndrome 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'articular cartilage disorder' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'syndromic disease' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Cataract' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'syndromic disease' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cataract' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'articular cartilage disorder' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0015281 atrial standstill 'atrial standstill' SubClassOf 'familial restrictive cardiomyopathy' 'atrial standstill' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0054852 peeling skin syndrome 6 'peeling skin syndrome 6' SubClassOf 'peeling skin syndrome' 'peeling skin syndrome 6' SubClassOf 'peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation 'congenital disorder of glycosylation' SubClassOf 'inborn errors of metabolism' 'congenital disorder of glycosylation' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0015285 Carney complex 'Carney complex' SubClassOf 'autosomal dominant disease' 'Carney complex' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'intestinal disease' 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0015293 segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'overgrowth syndrome' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'melanocytic nevus' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'overgrowth syndrome' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome' SubClassOf 'melanocytic nevus' http://purl.obolibrary.org/obo/MONDO_0015296 cardiac anomalies-heterotaxy syndrome 'cardiac anomalies-heterotaxy syndrome' SubClassOf 'heart disease' 'cardiac anomalies-heterotaxy syndrome' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0030910 intellectual disability, autosomal dominant 45 'intellectual disability, autosomal dominant 45' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 45' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030912 intellectual disability, autosomal dominant 47 'intellectual disability, autosomal dominant 47' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 47' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability, autosomal dominant 47' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability, autosomal dominant 47' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030914 Clark-Baraitser syndrome 'Clark-Baraitser syndrome' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'Clark-Baraitser syndrome' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030917 intellectual disability, autosomal dominant 51 'intellectual disability, autosomal dominant 51' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 51' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030916 intellectual disability, autosomal dominant 50 'intellectual disability, autosomal dominant 50' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 50' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030900 intellectual developmental disorder with paroxysmal dyskinesia or seizures 'intellectual developmental disorder with paroxysmal dyskinesia or seizures' SubClassOf 'genetic disorder' 'intellectual developmental disorder with paroxysmal dyskinesia or seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030902 mitochondrial complex 1 deficiency, nuclear type 36 'mitochondrial complex 1 deficiency, nuclear type 36' SubClassOf 'mitochondrial complex I deficiency, nuclear type' 'mitochondrial complex 1 deficiency, nuclear type 36' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0030908 intellectual disability, X-linked, syndromic, 35 'intellectual disability, X-linked, syndromic, 35' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked, syndromic, 35' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030907 intellectual disability, X-linked 106 'intellectual disability, X-linked 106' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 106' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0030903 Hermansky-Pudlak syndrome 11 'Hermansky-Pudlak syndrome 11' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome 11' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0030905 hearing loss, autosomal recessive 117 'hearing loss, autosomal recessive 117' SubClassOf 'hearing loss, autosomal recessive' 'hearing loss, autosomal recessive 117' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0030714 osteogenesis imperfecta, IIA 22 'osteogenesis imperfecta, IIA 22' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta, IIA 22' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive 'Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive' SubClassOf 'congenital dyserythropoietic anemia' 'Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0030702 autoimmune atherosclerosis 'autoimmune atherosclerosis' SubClassOf 'autoimmune disorder of cardiovascular system' 'autoimmune atherosclerosis' SubClassOf 'autoimmune disorder of cardiovascular system' http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy 'autoimmune cardiomyopathy' SubClassOf 'autoimmune disorder of cardiovascular system' 'autoimmune cardiomyopathy' SubClassOf 'autoimmune disorder of cardiovascular system' http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis 'autoimmune vasculitis' SubClassOf 'autoimmune disorder of cardiovascular system' 'autoimmune vasculitis' SubClassOf 'autoimmune disorder of cardiovascular system' http://purl.obolibrary.org/obo/MONDO_0030705 Trichomonas prostatitis 'Trichomonas prostatitis' SubClassOf 'trichomoniasis' 'Trichomonas prostatitis' SubClassOf 'prostatitis' 'Trichomonas prostatitis' SubClassOf 'trichomoniasis' 'Trichomonas prostatitis' SubClassOf 'prostatitis' http://purl.obolibrary.org/obo/MONDO_0030708 Trichomonas cervicitis 'Trichomonas cervicitis' SubClassOf 'trichomoniasis' 'Trichomonas cervicitis' SubClassOf 'trichomoniasis' http://purl.obolibrary.org/obo/MONDO_0030707 Trichomonas balanoposthitis 'Trichomonas balanoposthitis' SubClassOf 'trichomoniasis' 'Trichomonas balanoposthitis' SubClassOf 'trichomoniasis' http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 'Kleefstra syndrome 2' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome 2' SubClassOf 'Kleefstra syndrome' http://purl.obolibrary.org/obo/MONDO_0054700 proteasome-associated autoinflammatory syndrome 2 'proteasome-associated autoinflammatory syndrome 2' SubClassOf 'proteosome-associated autoinflammatory syndrome' 'proteasome-associated autoinflammatory syndrome 2' SubClassOf 'proteosome-associated autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0030733 spermatogenic failure 70 'spermatogenic failure 70' SubClassOf 'azoospermia' 'spermatogenic failure 70' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030723 hearing loss, autosomal dominant 83 'hearing loss, autosomal dominant 83' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 83' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0030726 neutropenia, severe congenital, 9, autosomal dominant 'neutropenia, severe congenital, 9, autosomal dominant' SubClassOf 'severe congenital neutropenia' 'neutropenia, severe congenital, 9, autosomal dominant' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0030720 trichomonal vulvovaginitis 'trichomonal vulvovaginitis' SubClassOf 'vulvovaginitis' 'trichomonal vulvovaginitis' SubClassOf 'Trichomonas vaginitis' 'trichomonal vulvovaginitis' SubClassOf 'vulvovaginitis' 'trichomonal vulvovaginitis' SubClassOf 'Trichomonas vaginitis' http://purl.obolibrary.org/obo/MONDO_0030727 developmental and epileptic encephalopathy 101 'developmental and epileptic encephalopathy 101' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 101' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015104 porphyria cutanea tarda 'porphyria cutanea tarda' SubClassOf 'hepatic porphyria' 'porphyria cutanea tarda' SubClassOf 'dermatitis' 'porphyria cutanea tarda' SubClassOf 'hepatic porphyria' 'porphyria cutanea tarda' SubClassOf 'dermatitis' http://purl.obolibrary.org/obo/MONDO_0015101 Marin-Amat syndrome 'Marin-Amat syndrome' SubClassOf 'jaw-winking syndrome' 'Marin-Amat syndrome' SubClassOf 'jaw-winking syndrome' http://purl.obolibrary.org/obo/MONDO_0030756 Stuve-Wiedemann syndrome 2 'Stuve-Wiedemann syndrome 2' SubClassOf 'Stuve-Wiedemann syndrome' 'Stuve-Wiedemann syndrome 2' SubClassOf 'Stuve-Wiedemann syndrome' http://purl.obolibrary.org/obo/MONDO_0030750 epidermolysis bullosa, junctional 4, intermediate 'epidermolysis bullosa, junctional 4, intermediate' SubClassOf 'junctional epidermolysis bullosa' 'epidermolysis bullosa, junctional 4, intermediate' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0030746 epidermolysis bullosa, junctional 2A, intermediate 'epidermolysis bullosa, junctional 2A, intermediate' SubClassOf 'junctional epidermolysis bullosa' 'epidermolysis bullosa, junctional 2A, intermediate' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0030748 epidermolysis bullosa, junctional 3A, intermediate 'epidermolysis bullosa, junctional 3A, intermediate' SubClassOf 'junctional epidermolysis bullosa' 'epidermolysis bullosa, junctional 3A, intermediate' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0030747 epidermolysis bullosa, junctional 2B, severe 'epidermolysis bullosa, junctional 2B, severe' SubClassOf 'junctional epidermolysis bullosa' 'epidermolysis bullosa, junctional 2B, severe' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0030749 epidermolysis bullosa, junctional 3B, severe 'epidermolysis bullosa, junctional 3B, severe' SubClassOf 'junctional epidermolysis bullosa' 'epidermolysis bullosa, junctional 3B, severe' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0015127 pituitary deficiency 'pituitary deficiency' SubClassOf 'endocrine system disease' 'pituitary deficiency' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy 'polyendocrinopathy' SubClassOf 'endocrine system disease' 'polyendocrinopathy' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0015129 chronic primary adrenal insufficiency 'chronic primary adrenal insufficiency' SubClassOf 'primary adrenal insufficiency' 'chronic primary adrenal insufficiency' SubClassOf 'adrenocortical insufficiency' 'chronic primary adrenal insufficiency' SubClassOf 'primary adrenal insufficiency' 'chronic primary adrenal insufficiency' SubClassOf 'adrenocortical insufficiency' http://purl.obolibrary.org/obo/MONDO_0015128 primary adrenal insufficiency 'primary adrenal insufficiency' SubClassOf 'adrenal gland disease' 'primary adrenal insufficiency' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0054743 polycystic liver disease 3 with or without kidney cysts 'polycystic liver disease 3 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' 'polycystic liver disease 3 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation group S 'Fanconi anemia, complementation group S' SubClassOf 'Fanconi anemia' 'Fanconi anemia, complementation group S' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0015137 periodic fever syndrome 'periodic fever syndrome' SubClassOf 'autoinflammatory syndrome' 'periodic fever syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0015134 constitutional neutropenia 'constitutional neutropenia' SubClassOf 'congenital hematological disorder' 'constitutional neutropenia' SubClassOf 'neutropenia' 'constitutional neutropenia' SubClassOf 'congenital hematological disorder' 'constitutional neutropenia' SubClassOf 'neutropenia' http://purl.obolibrary.org/obo/MONDO_0054742 combined oxidative phosphorylation deficiency 35 'combined oxidative phosphorylation deficiency 35' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 35' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0054741 combined oxidative phosphorylation deficiency 34 'combined oxidative phosphorylation deficiency 34' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 34' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0015131 combined immunodeficiency 'combined immunodeficiency' SubClassOf 'immunodeficiency disease' 'combined immunodeficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030768 epidermolysis bullosa, junctional 5A, intermediate 'epidermolysis bullosa, junctional 5A, intermediate' SubClassOf 'junctional epidermolysis bullosa' 'epidermolysis bullosa, junctional 5A, intermediate' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf 'encephalitis, acute, infection-induced, susceptibility to' 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf 'encephalitis, acute, infection-induced, susceptibility to' 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015149 pure hereditary spastic paraplegia 'pure hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' 'pure hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015148 lissencephaly type 3 'lissencephaly type 3' SubClassOf 'lissencephaly spectrum disorders' 'lissencephaly type 3' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0015146 classic lissencephaly 'classic lissencephaly' SubClassOf 'lissencephaly spectrum disorders' 'classic lissencephaly' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0015140 early-onset autosomal dominant Alzheimer disease 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'hereditary dementia' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease has major feature' some 'dementia' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'familial Alzheimer disease' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'inherited neurodegenerative disorder' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'hereditary dementia' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'familial Alzheimer disease' 'early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0054750 amyotrophic lateral sclerosis, susceptibility to, 24 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'inherited disease susceptibility' 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'predisposes towards' some 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'inherited disease susceptibility' 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0054724 spermatogenic failure 20 'spermatogenic failure 20' SubClassOf 'azoospermia' 'spermatogenic failure 20' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054723 spermatogenic failure 19 'spermatogenic failure 19' SubClassOf 'azoospermia' 'spermatogenic failure 19' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030797 retinitis pigmentosa 93 'retinitis pigmentosa 93' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 93' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0054728 spermatogenic failure 24 'spermatogenic failure 24' SubClassOf 'azoospermia' 'spermatogenic failure 24' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030796 leukoencephalopathy, hereditary diffuse, with spheroids 'leukoencephalopathy, hereditary diffuse, with spheroids' SubClassOf 'genetic disorder' 'leukoencephalopathy, hereditary diffuse, with spheroids' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0054727 spermatogenic failure 23 'spermatogenic failure 23' SubClassOf 'azoospermia' 'spermatogenic failure 23' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054726 spermatogenic failure 22 'spermatogenic failure 22' SubClassOf 'azoospermia' 'spermatogenic failure 22' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias 'immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias' SubClassOf 'immunodeficiency disease' 'immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0054729 spermatogenic failure 25 'spermatogenic failure 25' SubClassOf 'azoospermia' 'spermatogenic failure 25' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015157 human herpesvirus 8-related tumor 'human herpesvirus 8-related tumor' SubClassOf 'virus associated tumor' 'human herpesvirus 8-related tumor' SubClassOf 'virus associated tumor' http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0015151 muscular dystrophy, limb-girdle, autosomal dominant 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'limb-girdle muscular dystrophy' 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia 'complex hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' 'complex hereditary spastic paraplegia' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0054733 spermatogenic failure 29 'spermatogenic failure 29' SubClassOf 'azoospermia' 'spermatogenic failure 29' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054732 spermatogenic failure 28 'spermatogenic failure 28' SubClassOf 'azoospermia' 'spermatogenic failure 28' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 'intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015169 chronic diarrhea due to glucoamylase deficiency 'chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0015168 arthrogryposis multiplex congenita 'arthrogryposis multiplex congenita' SubClassOf 'arthrogryposis syndrome' 'arthrogryposis multiplex congenita' SubClassOf 'arthrogryposis syndrome' http://purl.obolibrary.org/obo/MONDO_0030781 restrictive dermopathy 2 'restrictive dermopathy 2' SubClassOf 'restrictive dermopathy' 'restrictive dermopathy 2' SubClassOf 'restrictive dermopathy' http://purl.obolibrary.org/obo/MONDO_0015161 multiple congenital anomalies/dysmorphic syndrome without intellectual disability 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015160 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015167 amniotic band syndrome 'amniotic band syndrome' SubClassOf 'dysostosis' 'amniotic band syndrome' SubClassOf 'skeletal dysplasia' 'amniotic band syndrome' SubClassOf 'dysostosis' 'amniotic band syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0054731 spermatogenic failure 27 'spermatogenic failure 27' SubClassOf 'azoospermia' 'spermatogenic failure 27' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054730 spermatogenic failure 26 'spermatogenic failure 26' SubClassOf 'azoospermia' 'spermatogenic failure 26' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054782 leukodystrophy, hypomyelinating, 15 'leukodystrophy, hypomyelinating, 15' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 15' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0054781 combined oxidative phosphorylation deficiency 36 'combined oxidative phosphorylation deficiency 36' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 36' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0015171 congenital enterocyte heparan sulfate deficiency 'congenital enterocyte heparan sulfate deficiency' SubClassOf 'intestinal disease' 'congenital enterocyte heparan sulfate deficiency' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0015177 metaphyseal anadysplasia 'metaphyseal anadysplasia' SubClassOf 'skeletal dysplasia' 'metaphyseal anadysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0054785 multiple mitochondrial dysfunctions syndrome 6 'multiple mitochondrial dysfunctions syndrome 6' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 6' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0015175 autoimmune pancreatitis 'autoimmune pancreatitis' SubClassOf 'IgG4-related disease' 'autoimmune pancreatitis' SubClassOf 'autoimmune disorder of endocrine system' 'autoimmune pancreatitis' SubClassOf 'IgG4-related disease' 'autoimmune pancreatitis' SubClassOf 'autoimmune disorder of endocrine system' http://purl.obolibrary.org/obo/MONDO_0015191 myopathic intestinal pseudoobstruction 'myopathic intestinal pseudoobstruction' SubClassOf 'chronic intestinal pseudoobstruction' 'myopathic intestinal pseudoobstruction' SubClassOf 'chronic intestinal pseudoobstruction' http://purl.obolibrary.org/obo/MONDO_0015185 intestinal polyposis syndrome 'intestinal polyposis syndrome' SubClassOf 'hereditary neoplastic syndrome' 'intestinal polyposis syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0015183 short bowel syndrome 'short bowel syndrome' SubClassOf 'intestinal disease' 'short bowel syndrome' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0015196 vein of Galen aneurysm 'vein of Galen aneurysm' SubClassOf 'arteriovenous hemangioma/malformation' 'vein of Galen aneurysm' SubClassOf 'arteriovenous hemangioma/malformation' http://purl.obolibrary.org/obo/MONDO_0015195 atresia of urethra 'atresia of urethra' SubClassOf 'fetal lower urinary tract obstruction' 'atresia of urethra' SubClassOf 'fetal lower urinary tract obstruction' http://purl.obolibrary.org/obo/MONDO_0015194 sideroblastic anemia 'sideroblastic anemia' SubClassOf 'anemia' 'sideroblastic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0015193 hydrops fetalis 'hydrops fetalis' SubClassOf 'developmental defect during embryogenesis' 'hydrops fetalis' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0054764 neurodegeneration with brain iron accumulation 8 'neurodegeneration with brain iron accumulation 8' SubClassOf 'neurodegeneration with brain iron accumulation' 'neurodegeneration with brain iron accumulation 8' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0015199 aniridia - intellectual disability syndrome 'aniridia - intellectual disability syndrome' SubClassOf 'genetic disorder' 'aniridia - intellectual disability syndrome' SubClassOf 'syndromic disease' 'aniridia - intellectual disability syndrome' SubClassOf 'genetic disorder' 'aniridia - intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome 'aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf 'syndromic disease' 'aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0006813 atrophic thyroiditis 'atrophic thyroiditis' SubClassOf 'autoimmune thyroid disease' 'atrophic thyroiditis' SubClassOf 'autoimmune thyroid disease' http://www.ebi.ac.uk/efo/EFO_0006812 autoimmune thyroid disease 'autoimmune thyroid disease' SubClassOf 'thyroiditis' 'autoimmune thyroid disease' SubClassOf 'thyroiditis' http://www.ebi.ac.uk/efo/EFO_0006803 vasculitis 'vasculitis' SubClassOf 'vascular disease' 'vasculitis' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0006859 head and neck malignant neoplasia 'head and neck malignant neoplasia' SubClassOf 'cancer' 'head and neck malignant neoplasia' SubClassOf 'head and neck neoplasia' 'head and neck malignant neoplasia' SubClassOf 'cancer' 'head and neck malignant neoplasia' SubClassOf 'head and neck neoplasia' http://www.ebi.ac.uk/efo/EFO_0006858 epithelial neoplasm 'epithelial neoplasm' SubClassOf 'neoplasm' 'epithelial neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0006857 cerebral malaria 'cerebral malaria' SubClassOf 'malaria' 'cerebral malaria' SubClassOf 'malaria' http://www.ebi.ac.uk/efo/EFO_0006862 Meniere disease 'Meniere disease' SubClassOf 'endolymphatic hydrops' 'Meniere disease' SubClassOf 'endolymphatic hydrops' http://www.ebi.ac.uk/efo/EFO_0006861 male breast carcinoma 'male breast carcinoma' SubClassOf 'breast carcinoma' 'male breast carcinoma' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_0006891 breast adenosis 'breast adenosis' SubClassOf 'breast disease' 'breast adenosis' SubClassOf 'breast disease' http://www.ebi.ac.uk/efo/EFO_0006888 vascular malformation 'vascular malformation' SubClassOf 'vascular disease' 'vascular malformation' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0005835 Lynch syndrome 'Lynch syndrome' SubClassOf 'autosomal dominant disease' 'Lynch syndrome' SubClassOf 'hereditary nonpolyposis colon cancer' 'Lynch syndrome' SubClassOf 'autosomal dominant disease' 'Lynch syndrome' SubClassOf 'hereditary nonpolyposis colon cancer' http://purl.obolibrary.org/obo/MONDO_0030602 Klebsiella pneumonia 'Klebsiella pneumonia' SubClassOf 'bacterial pneumonia' 'Klebsiella pneumonia' SubClassOf 'bacterial pneumonia' http://purl.obolibrary.org/obo/MONDO_0030607 Bryant-Li-Bhoj neurodevelopmental syndrome 2 'Bryant-Li-Bhoj neurodevelopmental syndrome 2' SubClassOf 'Bryant-Li-Bhoj neurodevelopmental syndrome' 'Bryant-Li-Bhoj neurodevelopmental syndrome 2' SubClassOf 'Bryant-Li-Bhoj neurodevelopmental syndrome' http://purl.obolibrary.org/obo/MONDO_0030606 Bryant-Li-Bhoj neurodevelopmental syndrome 1 'Bryant-Li-Bhoj neurodevelopmental syndrome 1' SubClassOf 'Bryant-Li-Bhoj neurodevelopmental syndrome' 'Bryant-Li-Bhoj neurodevelopmental syndrome 1' SubClassOf 'Bryant-Li-Bhoj neurodevelopmental syndrome' http://purl.obolibrary.org/obo/MONDO_0030634 leukoencephalopathy, hereditary diffuse, with spheroids 2 'leukoencephalopathy, hereditary diffuse, with spheroids 2' SubClassOf 'leukoencephalopathy, hereditary diffuse, with spheroids' 'leukoencephalopathy, hereditary diffuse, with spheroids 2' SubClassOf 'leukoencephalopathy, hereditary diffuse, with spheroids' http://purl.obolibrary.org/obo/MONDO_0030639 Teebi hypertelorism syndrome 'Teebi hypertelorism syndrome' SubClassOf 'genetic disorder' 'Teebi hypertelorism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030625 dyskinesia with orofacial involvement, autosomal recessive 'dyskinesia with orofacial involvement, autosomal recessive' SubClassOf 'dyskinesia with orofacial involvement' 'dyskinesia with orofacial involvement, autosomal recessive' SubClassOf 'dyskinesia with orofacial involvement' http://purl.obolibrary.org/obo/MONDO_0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 'epidermolysis bullosa simplex 6, generalized, with scarring and hair loss' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 6, generalized, with scarring and hair loss' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'inherited lipoic acid biosynthesis defect' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'inherited neurodegenerative disorder' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'inherited dystonia' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'inherited lipoic acid biosynthesis defect' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'inherited neurodegenerative disorder' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0015009 lymphatic malformation 7 'lymphatic malformation 7' SubClassOf 'EPHB4-associated vascular malformation spectrum' 'lymphatic malformation 7' SubClassOf 'lymphatic malformation' 'lymphatic malformation 7' SubClassOf 'EPHB4-associated vascular malformation spectrum' 'lymphatic malformation 7' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0015007 spastic paraplegia, intellectual disability, nystagmus, and obesity 'spastic paraplegia, intellectual disability, nystagmus, and obesity' SubClassOf 'autosomal dominant complex spastic paraplegia' 'spastic paraplegia, intellectual disability, nystagmus, and obesity' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015000 developmental and epileptic encephalopathy, 48 'developmental and epileptic encephalopathy, 48' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 48' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015014 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 'coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness' SubClassOf 'genetic disorder' 'coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015019 Yao syndrome 'Yao syndrome' SubClassOf 'genetic disorder' 'Yao syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015012 mucopolysaccharidosis-plus syndrome 'mucopolysaccharidosis-plus syndrome' SubClassOf 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' 'mucopolysaccharidosis-plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'mucopolysaccharidosis-plus syndrome' SubClassOf 'respiratory system disease' 'mucopolysaccharidosis-plus syndrome' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis-plus syndrome' SubClassOf 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' 'mucopolysaccharidosis-plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'mucopolysaccharidosis-plus syndrome' SubClassOf 'respiratory system disease' 'mucopolysaccharidosis-plus syndrome' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0015010 atypical glycine encephalopathy 'atypical glycine encephalopathy' SubClassOf 'glycine encephalopathy' 'atypical glycine encephalopathy' SubClassOf 'glycine encephalopathy' http://purl.obolibrary.org/obo/MONDO_0054636 Skraban-Deardorff syndrome 'Skraban-Deardorff syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Skraban-Deardorff syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015028 48,XXYY syndrome '48,XXYY syndrome' SubClassOf 'sex chromosome disorder of sex development' '48,XXYY syndrome' SubClassOf 'syndromic disease' '48,XXYY syndrome' SubClassOf 'sex chromosome disorder of sex development' '48,XXYY syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015027 familial isolated hyperparathyroidism 'familial isolated hyperparathyroidism' SubClassOf 'hereditary neoplastic syndrome' 'familial isolated hyperparathyroidism' SubClassOf 'familial primary hyperparathyroidism' 'familial isolated hyperparathyroidism' SubClassOf 'hereditary neoplastic syndrome' 'familial isolated hyperparathyroidism' SubClassOf 'familial primary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0015025 developmental and epileptic encephalopathy, 51 'developmental and epileptic encephalopathy, 51' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 51' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015020 intellectual disability, autosomal recessive 59 'intellectual disability, autosomal recessive 59' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 59' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015023 MYPN-related myopathy 'MYPN-related myopathy' SubClassOf 'nemaline myopathy' 'MYPN-related myopathy' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0030676 parkinsonism-dystonia 3, childhood-onset 'parkinsonism-dystonia 3, childhood-onset' SubClassOf 'parkinsonism-dystonia, infantile' 'parkinsonism-dystonia 3, childhood-onset' SubClassOf 'parkinsonism-dystonia, infantile' http://purl.obolibrary.org/obo/MONDO_0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I 'Charcot-Marie-Tooth disease, demyelinating, IIA 1I' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease, demyelinating, IIA 1I' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0015039 lissencephaly with cerebellar hypoplasia type F 'lissencephaly with cerebellar hypoplasia type F' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type F' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015038 lissencephaly with cerebellar hypoplasia type E 'lissencephaly with cerebellar hypoplasia type E' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type E' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015037 lissencephaly with cerebellar hypoplasia type D 'lissencephaly with cerebellar hypoplasia type D' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type D' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015036 lissencephaly with cerebellar hypoplasia type C 'lissencephaly with cerebellar hypoplasia type C' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type C' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015035 lissencephaly with cerebellar hypoplasia type B 'lissencephaly with cerebellar hypoplasia type B' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type B' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015034 lissencephaly with cerebellar hypoplasia type A 'lissencephaly with cerebellar hypoplasia type A' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type A' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015032 intraneural perineurioma 'intraneural perineurioma' SubClassOf 'perineurioma' 'intraneural perineurioma' SubClassOf 'perineurioma' http://purl.obolibrary.org/obo/MONDO_0054615 spermatogenic failure 18 'spermatogenic failure 18' SubClassOf 'azoospermia' 'spermatogenic failure 18' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0015048 amelogenesis imperfecta type 2 'amelogenesis imperfecta type 2' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta type 2' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0015047 amelogenesis imperfecta type 1 'amelogenesis imperfecta type 1' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta type 1' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0015053 hereditary angioedema type 1 'hereditary angioedema type 1' SubClassOf 'hereditary angioedema with C1Inh deficiency' 'hereditary angioedema type 1' SubClassOf 'hereditary angioedema with C1Inh deficiency' http://purl.obolibrary.org/obo/MONDO_0030693 immunodeficiency 96 'immunodeficiency 96' SubClassOf 'immunodeficiency disease' 'immunodeficiency 96' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0015051 tubular duplication of the esophagus 'tubular duplication of the esophagus' SubClassOf 'esophageal disease' 'tubular duplication of the esophagus' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0015050 esophageal duplication cyst 'esophageal duplication cyst' SubClassOf 'esophageal disease' 'esophageal duplication cyst' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0030695 developmental and epileptic encephalopathy 100 'developmental and epileptic encephalopathy 100' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 100' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030692 immunodeficiency 95 'immunodeficiency 95' SubClassOf 'immunodeficiency disease' 'immunodeficiency 95' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0015054 hereditary angioedema type 2 'hereditary angioedema type 2' SubClassOf 'hereditary angioedema with C1Inh deficiency' 'hereditary angioedema type 2' SubClassOf 'hereditary angioedema with C1Inh deficiency' http://purl.obolibrary.org/obo/MONDO_0015070 laryngeal neuroendocrine neoplasm 'laryngeal neuroendocrine neoplasm' SubClassOf 'head and neck neoplasia' 'laryngeal neuroendocrine neoplasm' SubClassOf 'otorhinolaryngologic disease' 'laryngeal neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'laryngeal neuroendocrine neoplasm' SubClassOf 'laryngeal neoplasm' 'laryngeal neuroendocrine neoplasm' SubClassOf 'head and neck neoplasia' 'laryngeal neuroendocrine neoplasm' SubClassOf 'otorhinolaryngologic disease' 'laryngeal neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'laryngeal neuroendocrine neoplasm' SubClassOf 'laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H 'Charcot-Marie-Tooth disease, demyelinating, IIA 1H' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease, demyelinating, IIA 1H' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' http://purl.obolibrary.org/obo/MONDO_0015063 duodenal neuroendocrine tumor, well differentiated, low or intermediate grade 'duodenal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' 'duodenal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' http://purl.obolibrary.org/obo/MONDO_0015062 gastric neuroendocrine tumor, well differentiated, low or intermediate grade 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'gastric neuroendocrine neoplasm' 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'gastric neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'gastric neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015068 neuroendocrine tumor of rectum, well differentiated, low or intermediate grade 'neuroendocrine tumor of rectum, well differentiated, low or intermediate grade' SubClassOf 'rectum neuroendocrine neoplasm' 'neuroendocrine tumor of rectum, well differentiated, low or intermediate grade' SubClassOf 'rectum neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'colon neuroendocrine neoplasm' 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'epithelial tumor of colon' 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'colon neuroendocrine neoplasm' 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'epithelial tumor of colon' http://purl.obolibrary.org/obo/MONDO_0015066 neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' SubClassOf 'epithelial tumor of the appendix' 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' SubClassOf 'appendix neuroendocrine neoplasm' 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' SubClassOf 'epithelial tumor of the appendix' 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' SubClassOf 'appendix neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015065 ileal neuroendocrine tumor, well differentiated, low or intermediate grade 'ileal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'ileal neoplasm' 'ileal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' 'ileal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'ileal neoplasm' 'ileal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'small intestine neuroendocrine tumor, well differentiated, low or intermediate grade' http://purl.obolibrary.org/obo/MONDO_0030680 cardiomyopathy, dilated, 2F 'cardiomyopathy, dilated, 2F' SubClassOf 'familial dilated cardiomyopathy' 'cardiomyopathy, dilated, 2F' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0015082 alopecia antibody deficiency 'alopecia antibody deficiency' SubClassOf 'alopecia' 'alopecia antibody deficiency' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0015073 gallbladder neuroendocrine tumor, grade 1/2 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'extrahepatic bile duct neoplasm' 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'gallbladder neuroendocrine neoplasm' 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'extrahepatic bile duct neoplasm' 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'digestive system neuroendocrine tumor, grade 1/2' 'gallbladder neuroendocrine tumor, grade 1/2' SubClassOf 'gallbladder neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015079 multiple polyglandular tumor 'multiple polyglandular tumor' SubClassOf 'polyendocrinopathy' 'multiple polyglandular tumor' SubClassOf 'polyendocrinopathy' http://purl.obolibrary.org/obo/MONDO_0015093 sub-cortical nodular heterotopia 'sub-cortical nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' 'sub-cortical nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' http://purl.obolibrary.org/obo/MONDO_0015091 autosomal dominant spastic paraplegia type 9 'autosomal dominant spastic paraplegia type 9' SubClassOf 'P5CS deficiency' 'autosomal dominant spastic paraplegia type 9' SubClassOf 'autosomal dominant complex spastic paraplegia' 'autosomal dominant spastic paraplegia type 9' SubClassOf 'P5CS deficiency' 'autosomal dominant spastic paraplegia type 9' SubClassOf 'autosomal dominant complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015086 cloverleaf skull-asphyxiating thoracic dysplasia syndrome 'cloverleaf skull-asphyxiating thoracic dysplasia syndrome' SubClassOf 'syndromic craniosynostosis' 'cloverleaf skull-asphyxiating thoracic dysplasia syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015085 bathing suit ichthyosis 'bathing suit ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis' 'bathing suit ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0015084 FRAXF syndrome 'FRAXF syndrome' SubClassOf 'genetic disorder' 'FRAXF syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015083 nuclear oculomotor paralysis 'nuclear oculomotor paralysis' SubClassOf 'oculomotor nerve paralysis' 'nuclear oculomotor paralysis' SubClassOf 'oculomotor nerve paralysis' http://purl.obolibrary.org/obo/MONDO_0015087 autosomal dominant complex spastic paraplegia 'autosomal dominant complex spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' 'autosomal dominant complex spastic paraplegia' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0015095 Peters anomaly-cataract syndrome 'Peters anomaly-cataract syndrome' SubClassOf 'Peters anomaly' 'Peters anomaly-cataract syndrome' SubClassOf 'Peters anomaly' http://purl.obolibrary.org/obo/MONDO_0015094 subependymal nodular heterotopia 'subependymal nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' 'subependymal nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' http://purl.obolibrary.org/obo/MONDO_0015099 unilateral hemispheric polymicrogyria 'unilateral hemispheric polymicrogyria' SubClassOf 'unilateral polymicrogyria' 'unilateral hemispheric polymicrogyria' SubClassOf 'unilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0054699 proteasome-associated autoinflammatory syndrome 3 'proteasome-associated autoinflammatory syndrome 3' SubClassOf 'proteosome-associated autoinflammatory syndrome' 'proteasome-associated autoinflammatory syndrome 3' SubClassOf 'proteosome-associated autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0054691 immunodeficiency, common variable, 14 'immunodeficiency, common variable, 14' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 14' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0054696 immunodeficiency 53 'immunodeficiency 53' SubClassOf 'immunodeficiency disease' 'immunodeficiency 53' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0054695 myopathy, centronuclear, 6, with fiber-type disproportion 'myopathy, centronuclear, 6, with fiber-type disproportion' SubClassOf 'centronuclear myopathy' 'myopathy, centronuclear, 6, with fiber-type disproportion' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0005508 hereditary multiple osteochondromas 'hereditary multiple osteochondromas' SubClassOf 'hereditary neoplastic syndrome' 'hereditary multiple osteochondromas' SubClassOf 'exostosis' 'hereditary multiple osteochondromas' SubClassOf 'bone neoplasm' 'hereditary multiple osteochondromas' SubClassOf 'hereditary neoplastic syndrome' 'hereditary multiple osteochondromas' SubClassOf 'exostosis' 'hereditary multiple osteochondromas' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0005514 nanophthalmia 'nanophthalmia' SubClassOf 'microphthalmia' 'nanophthalmia' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' 'nanophthalmia' SubClassOf 'microphthalmia' 'nanophthalmia' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' http://purl.obolibrary.org/obo/MONDO_0030515 spermatogenic failure 63 'spermatogenic failure 63' SubClassOf 'azoospermia' 'spermatogenic failure 63' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy 'leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0030517 trichothiodystrophy 8, nonphotosensitive 'trichothiodystrophy 8, nonphotosensitive' SubClassOf 'trichothiodystrophy' 'trichothiodystrophy 8, nonphotosensitive' SubClassOf 'trichothiodystrophy' http://purl.obolibrary.org/obo/MONDO_0030512 spastic paraplegia 85, autosomal recessive 'spastic paraplegia 85, autosomal recessive' SubClassOf 'complex hereditary spastic paraplegia' 'spastic paraplegia 85, autosomal recessive' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0030503 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 'cholestasis, progressive familial intrahepatic, 7, with or without hearing loss' SubClassOf 'progressive familial intrahepatic cholestasis' 'cholestasis, progressive familial intrahepatic, 7, with or without hearing loss' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0030500 Loeys-Dietz syndrome 6 'Loeys-Dietz syndrome 6' SubClassOf 'Loeys-Dietz syndrome' 'Loeys-Dietz syndrome 6' SubClassOf 'Loeys-Dietz syndrome' http://purl.obolibrary.org/obo/MONDO_0030502 tetrasomy 'tetrasomy' SubClassOf 'aneuploidy' 'tetrasomy' SubClassOf 'aneuploidy' http://purl.obolibrary.org/obo/MONDO_0030507 spermatogenic failure 61 'spermatogenic failure 61' SubClassOf 'azoospermia' 'spermatogenic failure 61' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive 'epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0030534 hypogonadotropic hypogonadism 26 with or without anosmia 'hypogonadotropic hypogonadism 26 with or without anosmia' SubClassOf 'hypogonadotropic hypogonadism' 'hypogonadotropic hypogonadism 26 with or without anosmia' SubClassOf 'hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0005575 colorectal cancer 'colorectal cancer' SubClassOf 'intestinal cancer' 'colorectal cancer' SubClassOf 'colorectal neoplasm' 'colorectal cancer' SubClassOf 'intestinal cancer' 'colorectal cancer' SubClassOf 'colorectal neoplasm' http://purl.obolibrary.org/obo/MONDO_0030531 spermatogenic failure 65 'spermatogenic failure 65' SubClassOf 'azoospermia' 'spermatogenic failure 65' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030525 epidermolysis bullosa simplex 2B, generalized intermediate 'epidermolysis bullosa simplex 2B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 2B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0030527 epidermolysis bullosa simplex 2C, localized 'epidermolysis bullosa simplex 2C, localized' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 2C, localized' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0030529 agammaglobulinemia 10, autosomal dominant 'agammaglobulinemia 10, autosomal dominant' SubClassOf 'agammaglobulinemia' 'agammaglobulinemia 10, autosomal dominant' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0030543 combined oxidative phosphorylation deficiency 54 'combined oxidative phosphorylation deficiency 54' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 54' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0054559 congenital disorder of glycosylation, type IIq 'congenital disorder of glycosylation, type IIq' SubClassOf 'defect in conserved oligomeric Golgi complex' 'congenital disorder of glycosylation, type IIq' SubClassOf 'congenital disorder of glycosylation type II' 'congenital disorder of glycosylation, type IIq' SubClassOf 'defect in conserved oligomeric Golgi complex' 'congenital disorder of glycosylation, type IIq' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0054591 Stankiewicz-Isidor syndrome 'Stankiewicz-Isidor syndrome' SubClassOf 'Neurodevelopmental disorder' 'Stankiewicz-Isidor syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/DOID_1947 trichomoniasis 'trichomoniasis' SubClassOf 'protozoa infectious disease' 'trichomoniasis' SubClassOf 'protozoa infectious disease' http://purl.obolibrary.org/obo/MONDO_0054565 short-rib thoracic dysplasia 17 with or without polydactyly 'short-rib thoracic dysplasia 17 with or without polydactyly' SubClassOf 'Jeune syndrome' 'short-rib thoracic dysplasia 17 with or without polydactyly' SubClassOf 'Jeune syndrome' http://purl.obolibrary.org/obo/MONDO_0011299 Huntington disease-like 1 'Huntington disease-like 1' SubClassOf 'prion disease' 'Huntington disease-like 1' SubClassOf 'inherited neurodegenerative disorder' 'Huntington disease-like 1' SubClassOf 'prion disease' 'Huntington disease-like 1' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0011291 ALG6-congenital disorder of glycosylation 1C 'ALG6-congenital disorder of glycosylation 1C' SubClassOf 'disorder of protein N-glycosylation' 'ALG6-congenital disorder of glycosylation 1C' SubClassOf 'congenital disorder of glycosylation type I' 'ALG6-congenital disorder of glycosylation 1C' SubClassOf 'disorder of protein N-glycosylation' 'ALG6-congenital disorder of glycosylation 1C' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0011292 dermatitis, atopic 'dermatitis, atopic' SubClassOf 'atopic eczema' 'dermatitis, atopic' SubClassOf 'atopic eczema' http://purl.obolibrary.org/obo/MONDO_0035290 atypical hemolytic uremic syndrome with complement gene abnormality 'atypical hemolytic uremic syndrome with complement gene abnormality' SubClassOf 'atypical hemolytic-uremic syndrome' 'atypical hemolytic uremic syndrome with complement gene abnormality' SubClassOf 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis 'renal tubular acidosis' SubClassOf 'renal tubular transport disease' 'renal tubular acidosis' SubClassOf 'renal tubular transport disease' http://purl.obolibrary.org/obo/MONDO_0001907 adult dermatomyositis 'adult dermatomyositis' SubClassOf 'dermatomyositis' 'adult dermatomyositis' SubClassOf 'dermatomyositis' http://purl.obolibrary.org/obo/MONDO_0001903 calcific tendinitis 'calcific tendinitis' SubClassOf 'tendinitis' 'calcific tendinitis' SubClassOf 'tendinitis' http://purl.obolibrary.org/obo/MONDO_0001917 chronic perichondritis of pinna 'chronic perichondritis of pinna' SubClassOf 'perichondritis of auricle' 'chronic perichondritis of pinna' SubClassOf 'perichondritis of auricle' http://purl.obolibrary.org/obo/MONDO_0001920 chronic purulent otitis media 'chronic purulent otitis media' SubClassOf 'chronic otitis media' 'chronic purulent otitis media' SubClassOf 'suppurative otitis media' 'chronic purulent otitis media' SubClassOf 'chronic otitis media' 'chronic purulent otitis media' SubClassOf 'suppurative otitis media' http://purl.obolibrary.org/obo/MONDO_0001926 ureteral disorder 'ureteral disorder' SubClassOf 'urinary system disease' 'ureteral disorder' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0001930 acute cholangitis 'acute cholangitis' SubClassOf 'cholangitis' 'acute cholangitis' SubClassOf 'cholangitis' http://purl.obolibrary.org/obo/MONDO_0001933 endocrine pancreas disorder 'endocrine pancreas disorder' SubClassOf 'pancreas disease' 'endocrine pancreas disorder' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0001938 vulvar dystrophy 'vulvar dystrophy' SubClassOf 'vulvar disease' 'vulvar dystrophy' SubClassOf 'vulvar disease' http://purl.obolibrary.org/obo/MONDO_0001941 blindness (disorder) 'blindness (disorder)' SubClassOf 'vision disorder' 'blindness (disorder)' SubClassOf 'disease has major feature' some 'Blindness' 'blindness (disorder)' EquivalentTo 'vision disorder' and ('disease has major feature' some 'Blindness') 'blindness (disorder)' SubClassOf 'vision disorder' 'blindness (disorder)' EquivalentTo 'vision disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Blindness') 'blindness (disorder)' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Blindness' http://purl.obolibrary.org/obo/MONDO_0001949 acute thyroiditis 'acute thyroiditis' SubClassOf 'thyroiditis' 'acute thyroiditis' SubClassOf 'thyroiditis' http://purl.obolibrary.org/obo/MONDO_0001955 protozoal dysentery 'protozoal dysentery' SubClassOf 'protozoa infectious disease' 'protozoal dysentery' SubClassOf 'dysentery' 'protozoal dysentery' SubClassOf 'protozoa infectious disease' 'protozoal dysentery' SubClassOf 'dysentery' http://purl.obolibrary.org/obo/MONDO_0001967 gonadal dysgenesis 'gonadal dysgenesis' SubClassOf 'hypogonadism' 'gonadal dysgenesis' SubClassOf 'hypogonadism' http://purl.obolibrary.org/obo/MONDO_0001966 chronic closed-angle glaucoma 'chronic closed-angle glaucoma' SubClassOf 'primary angle closure glaucoma' 'chronic closed-angle glaucoma' SubClassOf 'primary angle closure glaucoma' http://purl.obolibrary.org/obo/MONDO_0001977 ureteral lymphoma 'ureteral lymphoma' SubClassOf 'lymphoma' 'ureteral lymphoma' SubClassOf 'ureter cancer' 'ureteral lymphoma' SubClassOf 'lymphoma' 'ureteral lymphoma' SubClassOf 'ureter cancer' http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism 'familial gestational hyperthyroidism' SubClassOf 'hyperthyroidism' 'familial gestational hyperthyroidism' SubClassOf 'pregnancy disorder' 'familial gestational hyperthyroidism' SubClassOf 'hyperthyroidism' 'familial gestational hyperthyroidism' SubClassOf 'pregnancy disorder' http://purl.obolibrary.org/obo/MONDO_0011308 GRACILE syndrome 'GRACILE syndrome' SubClassOf 'mitochondrial disease' 'GRACILE syndrome' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0011301 pseudohypoparathyroidism type 1B 'pseudohypoparathyroidism type 1B' SubClassOf 'pseudohypoparathyroidism' 'pseudohypoparathyroidism type 1B' SubClassOf 'disorder of GNAS inactivation' 'pseudohypoparathyroidism type 1B' SubClassOf 'pseudohypoparathyroidism' 'pseudohypoparathyroidism type 1B' SubClassOf 'disorder of GNAS inactivation' http://purl.obolibrary.org/obo/MONDO_0011303 focal segmental glomerulosclerosis 1 'focal segmental glomerulosclerosis 1' SubClassOf 'inherited focal segmental glomerulosclerosis' 'focal segmental glomerulosclerosis 1' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' 'focal segmental glomerulosclerosis 1' SubClassOf 'inherited focal segmental glomerulosclerosis' 'focal segmental glomerulosclerosis 1' SubClassOf 'familial idiopathic steroid-resistant nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0001989 atrophic glossitis 'atrophic glossitis' SubClassOf 'glossitis' 'atrophic glossitis' SubClassOf 'glossitis' http://purl.obolibrary.org/obo/MONDO_0001991 malignant cardiac germ cell tumor 'malignant cardiac germ cell tumor' SubClassOf 'heart cancer' 'malignant cardiac germ cell tumor' SubClassOf 'heart cancer' http://purl.obolibrary.org/obo/MONDO_0001999 primary pulmonary hypertension 'primary pulmonary hypertension' SubClassOf 'chronic pulmonary heart disease' 'primary pulmonary hypertension' SubClassOf 'chronic pulmonary heart disease' http://purl.obolibrary.org/obo/MONDO_0011327 neuronal intranuclear inclusion disease 'neuronal intranuclear inclusion disease' SubClassOf 'inherited neurodegenerative disorder' 'neuronal intranuclear inclusion disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0011320 radioulnar synostosis-microcephaly-scoliosis syndrome 'radioulnar synostosis-microcephaly-scoliosis syndrome' SubClassOf 'syndromic disease' 'radioulnar synostosis-microcephaly-scoliosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/GO_0042403 thyroid hormone metabolic process 'thyroid hormone metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0011323 arhinia, choanal atresia, and microphthalmia 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'genetic disorder' 'arhinia, choanal atresia, and microphthalmia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'intestinal motility disease' 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'syndromic disease' 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'intestinal motility disease' 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011338 Omenn syndrome 'Omenn syndrome' SubClassOf 'familial severe combined immunodeficiency' 'Omenn syndrome' SubClassOf 'T-B- severe combined immunodeficiency' 'Omenn syndrome' SubClassOf 'familial severe combined immunodeficiency' 'Omenn syndrome' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011339 hereditary spastic paraplegia 8 'hereditary spastic paraplegia 8' SubClassOf 'pure hereditary spastic paraplegia' 'hereditary spastic paraplegia 8' SubClassOf 'pure hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0011330 spinocerebellar ataxia type 10 'spinocerebellar ataxia type 10' SubClassOf 'autosomal dominant cerebellar ataxia type IV' 'spinocerebellar ataxia type 10' SubClassOf 'autosomal dominant cerebellar ataxia type IV' http://purl.obolibrary.org/obo/MONDO_0011334 limb-mammary syndrome 'limb-mammary syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'limb-mammary syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011335 spondyloepimetaphyseal dysplasia with multiple dislocations 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'autosomal dominant disease' 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'autosomal dominant disease' 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' http://purl.obolibrary.org/obo/MONDO_0011348 non-syndromic polydactyly 'non-syndromic polydactyly' SubClassOf 'polydactyly' 'non-syndromic polydactyly' SubClassOf 'polydactyly' http://purl.obolibrary.org/obo/MONDO_0011340 congenital tracheal stenosis 'congenital tracheal stenosis' SubClassOf 'otorhinolaryngologic disease' 'congenital tracheal stenosis' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0011342 SLC35A1-congenital disorder of glycosylation 'SLC35A1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A1-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' 'SLC35A1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A1-congenital disorder of glycosylation' SubClassOf 'disorder of multiple glycosylation' http://purl.obolibrary.org/obo/GO_0042423 catecholamine biosynthetic process 'catecholamine biosynthetic process' SubClassOf 'organic cyclic compound biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0011347 craniosynostosis with ectopia lentis 'craniosynostosis with ectopia lentis' SubClassOf 'craniosynostosis' 'craniosynostosis with ectopia lentis' SubClassOf 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011346 xanthinuria type II 'xanthinuria type II' SubClassOf 'hereditary xanthinuria' 'xanthinuria type II' SubClassOf 'hereditary xanthinuria' http://purl.obolibrary.org/obo/MONDO_0011359 acromelic frontonasal dysostosis 'acromelic frontonasal dysostosis' SubClassOf 'acrofacial dysostosis' 'acromelic frontonasal dysostosis' SubClassOf 'frontonasal dysplasia' 'acromelic frontonasal dysostosis' SubClassOf 'acrofacial dysostosis' 'acromelic frontonasal dysostosis' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011350 autosomal dominant nonsyndromic hearing loss 17 'autosomal dominant nonsyndromic hearing loss 17' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 17' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011362 myopathy, myofibrillar, 9, with early respiratory failure 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'hereditary inclusion-body myopathy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'progressive muscular dystrophy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'autosomal dominant distal myopathy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'autosomal dominant titinopathy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'hereditary inclusion-body myopathy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'progressive muscular dystrophy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'autosomal dominant distal myopathy' 'myopathy, myofibrillar, 9, with early respiratory failure' SubClassOf 'autosomal dominant titinopathy' http://purl.obolibrary.org/obo/MONDO_0011365 blepharophimosis - intellectual disability syndrome, SBBYS type 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'syndromic disease' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'Ohdo syndrome and variants' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'endocrine system disease' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'syndromic disease' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'Ohdo syndrome and variants' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 'hypercholesterolemia, autosomal dominant, 3' SubClassOf 'familial hypercholesterolemia' 'hypercholesterolemia, autosomal dominant, 3' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0011376 ventricular fibrillation, paroxysmal familial, type 1 'ventricular fibrillation, paroxysmal familial, type 1' SubClassOf 'paroxysmal familial ventricular fibrillation' 'ventricular fibrillation, paroxysmal familial, type 1' SubClassOf 'paroxysmal familial ventricular fibrillation' http://purl.obolibrary.org/obo/MONDO_0011377 long QT syndrome 3 'long QT syndrome 3' SubClassOf 'familial long QT syndrome' 'long QT syndrome 3' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0011370 Stargardt disease 4 'Stargardt disease 4' SubClassOf 'Stargardt disease' 'Stargardt disease 4' SubClassOf 'Stargardt disease' http://purl.obolibrary.org/obo/MONDO_0011381 dominant beta-thalassemia 'dominant beta-thalassemia' SubClassOf 'beta thalassemia' 'dominant beta-thalassemia' SubClassOf 'beta thalassemia' http://purl.obolibrary.org/obo/MONDO_0011383 autoimmune lymphoproliferative syndrome type 2A 'autoimmune lymphoproliferative syndrome type 2A' SubClassOf 'autoimmune lymphoproliferative syndrome' 'autoimmune lymphoproliferative syndrome type 2A' SubClassOf 'autoimmune lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0011382 sickle cell anemia 'sickle cell anemia' SubClassOf 'inherited hemoglobinopathy' 'sickle cell anemia' SubClassOf 'autosomal recessive disease' 'sickle cell anemia' SubClassOf 'inherited hemoglobinopathy' 'sickle cell anemia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0011396 loricrin keratoderma 'loricrin keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' 'loricrin keratoderma' SubClassOf 'diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0011395 cone-rod dystrophy 3 'cone-rod dystrophy 3' SubClassOf 'ABCA4-related retinopathy' 'cone-rod dystrophy 3' SubClassOf 'cone-rod dystrophy' 'cone-rod dystrophy 3' SubClassOf 'ABCA4-related retinopathy' 'cone-rod dystrophy 3' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0011398 dystrophic epidermolysis bullosa pruriginosa 'dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'epidermolysis bullosa dystrophica' 'dystrophic epidermolysis bullosa pruriginosa' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy 'autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'sleep-wake disorder' 'autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'sleep-wake disorder' 'autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011399 alpha thalassemia spectrum 'alpha thalassemia spectrum' SubClassOf 'Thalassemia' 'alpha thalassemia spectrum' SubClassOf 'Thalassemia' http://purl.obolibrary.org/obo/MONDO_0011391 megalencephalic leukoencephalopathy with subcortical cysts 'megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukodystrophy' 'megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukoencephalopathy, megalencephalic' 'megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukodystrophy' 'megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukoencephalopathy, megalencephalic' http://purl.obolibrary.org/obo/MONDO_0011393 hypoalphalipoproteinemia, primary, 1 'hypoalphalipoproteinemia, primary, 1' SubClassOf 'hypoalphalipoproteinemia' 'hypoalphalipoproteinemia, primary, 1' SubClassOf 'hypoalphalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0011176 intestinal hypomagnesemia 1 'intestinal hypomagnesemia 1' SubClassOf 'familial primary hypomagnesemia with normocalcuria' 'intestinal hypomagnesemia 1' SubClassOf 'familial primary hypomagnesemia with normocalcuria' http://purl.obolibrary.org/obo/MONDO_0011178 infantile convulsions and choreoathetosis 'infantile convulsions and choreoathetosis' SubClassOf 'paroxysmal dyskinesia' 'infantile convulsions and choreoathetosis' SubClassOf 'syndromic disease' 'infantile convulsions and choreoathetosis' SubClassOf 'benign partial infantile seizures' 'infantile convulsions and choreoathetosis' SubClassOf 'PRRT2-associated paroxysmal movement disorder' 'infantile convulsions and choreoathetosis' SubClassOf 'paroxysmal dyskinesia' 'infantile convulsions and choreoathetosis' SubClassOf 'benign partial infantile seizures' 'infantile convulsions and choreoathetosis' SubClassOf 'syndromic disease' 'infantile convulsions and choreoathetosis' SubClassOf 'PRRT2-associated paroxysmal movement disorder' http://purl.obolibrary.org/obo/MONDO_0011170 autosomal recessive limb-girdle muscular dystrophy type 2G 'autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'qualitative or quantitative defects of telethonin' 'autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2G' SubClassOf 'qualitative or quantitative defects of telethonin' http://purl.obolibrary.org/obo/MONDO_0011171 odonto-tricho-ungual-digito-palmar syndrome 'odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011173 thrombocythemia 2 'thrombocythemia 2' SubClassOf 'familial thrombocytosis' 'thrombocythemia 2' SubClassOf 'familial thrombocytosis' http://purl.obolibrary.org/obo/MONDO_0011185 Thiel-Behnke corneal dystrophy 'Thiel-Behnke corneal dystrophy' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Thiel-Behnke corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'Thiel-Behnke corneal dystrophy' SubClassOf 'epithelial-stromal TGFBI dystrophy' 'Thiel-Behnke corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0011184 childhood apraxia of speech 'childhood apraxia of speech' SubClassOf 'specific language disorder' 'childhood apraxia of speech' SubClassOf 'specific language disorder' http://purl.obolibrary.org/obo/MONDO_0035133 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011198 spondyloepimetaphyseal dysplasia, Missouri type 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011197 hereditary thermosensitive neuropathy 'hereditary thermosensitive neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' 'hereditary thermosensitive neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011190 nephronophthisis 2 'nephronophthisis 2' SubClassOf 'nephronophthisis' 'nephronophthisis 2' SubClassOf 'nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0011192 autosomal recessive nonsyndromic hearing loss 18A 'autosomal recessive nonsyndromic hearing loss 18A' SubClassOf 'hearing loss, autosomal recessive' 'autosomal recessive nonsyndromic hearing loss 18A' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0011191 capillary infantile hemangioma 'capillary infantile hemangioma' SubClassOf 'genetic disorder' 'capillary infantile hemangioma' SubClassOf 'capillary hemangioma' 'capillary infantile hemangioma' SubClassOf 'genetic disorder' 'capillary infantile hemangioma' SubClassOf 'capillary hemangioma' http://purl.obolibrary.org/obo/MONDO_0011193 cone dystrophy 3 'cone dystrophy 3' SubClassOf 'cone dystrophy' 'cone dystrophy 3' SubClassOf 'cone-rod dystrophy' 'cone dystrophy 3' SubClassOf 'cone dystrophy' 'cone dystrophy 3' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0011196 amyotrophic lateral sclerosis type 5 'amyotrophic lateral sclerosis type 5' SubClassOf 'juvenile amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis type 5' SubClassOf 'juvenile amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0001806 vaginal squamous tumor 'vaginal squamous tumor' SubClassOf 'squamous cell neoplasm' 'vaginal squamous tumor' SubClassOf 'Vaginal neoplasm' 'vaginal squamous tumor' SubClassOf 'squamous cell neoplasm' 'vaginal squamous tumor' SubClassOf 'Vaginal neoplasm' http://purl.obolibrary.org/obo/MONDO_0001812 parasitic eyelid infestation 'parasitic eyelid infestation' SubClassOf 'blepharitis' 'parasitic eyelid infestation' SubClassOf 'blepharitis' http://purl.obolibrary.org/obo/MONDO_0001817 acute closed-angle glaucoma 'acute closed-angle glaucoma' SubClassOf 'primary angle closure glaucoma' 'acute closed-angle glaucoma' SubClassOf 'primary angle closure glaucoma' http://purl.obolibrary.org/obo/MONDO_0001816 scleroperikeratitis 'scleroperikeratitis' SubClassOf 'scleritis' 'scleroperikeratitis' SubClassOf 'scleritis' http://purl.obolibrary.org/obo/MONDO_0001815 extrapyramidal and movement disease 'extrapyramidal and movement disease' SubClassOf 'movement disorder' 'extrapyramidal and movement disease' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0001823 sick sinus syndrome 'sick sinus syndrome' SubClassOf 'sinoatrial node disorder' 'sick sinus syndrome' SubClassOf 'syndromic disease' 'sick sinus syndrome' SubClassOf 'syndromic disease' 'sick sinus syndrome' SubClassOf 'sinoatrial node disorder' http://purl.obolibrary.org/obo/MONDO_0001822 hypolipoproteinemia 'hypolipoproteinemia' SubClassOf 'inherited lipid metabolism disorder' 'hypolipoproteinemia' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0001829 lumbosacral plexus lesion 'lumbosacral plexus lesion' SubClassOf 'nerve plexus disease' 'lumbosacral plexus lesion' SubClassOf 'nerve plexus disease' http://purl.obolibrary.org/obo/MONDO_0001828 acquired color blindness 'acquired color blindness' SubClassOf 'color vision disorder' 'acquired color blindness' SubClassOf 'color vision disorder' http://purl.obolibrary.org/obo/MONDO_0001832 bacterial esophagitis 'bacterial esophagitis' SubClassOf 'esophagitis' 'bacterial esophagitis' SubClassOf 'esophagitis' http://purl.obolibrary.org/obo/MONDO_0001836 amenorrhea 'amenorrhea' SubClassOf 'female reproductive system disease' 'amenorrhea' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0001835 facial paralysis 'facial paralysis' SubClassOf 'palsy' 'facial paralysis' SubClassOf 'palsy' http://purl.obolibrary.org/obo/MONDO_0001834 visual pathway disorder 'visual pathway disorder' SubClassOf 'vision disorder' 'visual pathway disorder' SubClassOf 'vision disorder' http://purl.obolibrary.org/obo/MONDO_0001838 acute gonococcal prostatitis 'acute gonococcal prostatitis' SubClassOf 'gonococcal prostatitis' 'acute gonococcal prostatitis' SubClassOf 'gonococcal prostatitis' http://purl.obolibrary.org/obo/MONDO_0001837 acute gonococcal salpingitis 'acute gonococcal salpingitis' SubClassOf 'gonococcal salpingitis' 'acute gonococcal salpingitis' SubClassOf 'acute salpingitis' 'acute gonococcal salpingitis' SubClassOf 'gonococcal salpingitis' 'acute gonococcal salpingitis' SubClassOf 'acute salpingitis' http://purl.obolibrary.org/obo/MONDO_0001841 uterine corpus epithelioid leiomyoma 'uterine corpus epithelioid leiomyoma' SubClassOf 'uterine fibroid' 'uterine corpus epithelioid leiomyoma' SubClassOf 'uterine fibroid' http://purl.obolibrary.org/obo/MONDO_0001847 nuclear senile cataract 'nuclear senile cataract' SubClassOf 'senile cataract' 'nuclear senile cataract' SubClassOf 'senile cataract' http://purl.obolibrary.org/obo/MONDO_0001852 small intestine lymphoma 'small intestine lymphoma' SubClassOf 'small intestine cancer' 'small intestine lymphoma' SubClassOf 'gastrointestinal lymphoma' 'small intestine lymphoma' SubClassOf 'small intestine cancer' 'small intestine lymphoma' SubClassOf 'gastrointestinal lymphoma' http://purl.obolibrary.org/obo/MONDO_0001858 Tietze syndrome 'Tietze syndrome' SubClassOf 'syndromic disease' 'Tietze syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0001859 algoneurodystrophy 'algoneurodystrophy' SubClassOf 'complex regional pain syndrome' 'algoneurodystrophy' SubClassOf 'complex regional pain syndrome' http://purl.obolibrary.org/obo/MONDO_0001876 renal artery atheroma 'renal artery atheroma' SubClassOf 'renal artery disease' 'renal artery atheroma' SubClassOf 'renal artery disease' http://purl.obolibrary.org/obo/MONDO_0001879 anus cancer 'anus cancer' SubClassOf 'anal neoplasm' 'anus cancer' SubClassOf 'anal neoplasm' http://purl.obolibrary.org/obo/MONDO_0001884 abducens nerve neoplasm 'abducens nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'abducens nerve neoplasm' SubClassOf 'cranial nerve neoplasm' http://purl.obolibrary.org/obo/MONDO_0011208 malignant atrophic papulosis 'malignant atrophic papulosis' SubClassOf 'skin vascular disease' 'malignant atrophic papulosis' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0011200 torsion dystonia 7 'torsion dystonia 7' SubClassOf 'inherited dystonia' 'torsion dystonia 7' SubClassOf 'focal dystonia' 'torsion dystonia 7' SubClassOf 'inherited dystonia' 'torsion dystonia 7' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/MONDO_0011202 RHYNS syndrome 'RHYNS syndrome' SubClassOf 'disorder of visual system' 'RHYNS syndrome' SubClassOf 'syndromic disease' 'RHYNS syndrome' SubClassOf 'inherited renal tubular disease' 'RHYNS syndrome' SubClassOf 'disorder of visual system' 'RHYNS syndrome' SubClassOf 'syndromic disease' 'RHYNS syndrome' SubClassOf 'inherited renal tubular disease' http://purl.obolibrary.org/obo/MONDO_0001888 anus lymphoma 'anus lymphoma' SubClassOf 'anus cancer' 'anus lymphoma' SubClassOf 'anus cancer' http://purl.obolibrary.org/obo/MONDO_0001894 spinal cord sarcoma 'spinal cord sarcoma' SubClassOf 'spinal cord cancer' 'spinal cord sarcoma' SubClassOf 'central nervous system sarcoma' 'spinal cord sarcoma' SubClassOf 'spinal cord cancer' 'spinal cord sarcoma' SubClassOf 'central nervous system sarcoma' http://purl.obolibrary.org/obo/MONDO_0001893 spinal cord melanoma 'spinal cord melanoma' SubClassOf 'spinal cord cancer' 'spinal cord melanoma' SubClassOf 'spinal cord cancer' http://purl.obolibrary.org/obo/MONDO_0001892 spinal cord lymphoma 'spinal cord lymphoma' SubClassOf 'spinal cord cancer' 'spinal cord lymphoma' SubClassOf 'Central Nervous System Lymphoma' 'spinal cord lymphoma' SubClassOf 'spinal cord cancer' 'spinal cord lymphoma' SubClassOf 'Central Nervous System Lymphoma' http://purl.obolibrary.org/obo/MONDO_0001898 optic choroid disorder 'optic choroid disorder' SubClassOf 'uveal disorder' 'optic choroid disorder' SubClassOf 'uveal disorder' http://purl.obolibrary.org/obo/MONDO_0011217 desmosterolosis 'desmosterolosis' SubClassOf 'neonatal osteosclerotic dysplasia' 'desmosterolosis' SubClassOf 'neonatal osteosclerotic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011216 hemochromatosis type 2A 'hemochromatosis type 2A' SubClassOf 'hemochromatosis type 2' 'hemochromatosis type 2A' SubClassOf 'hemochromatosis type 2' http://purl.obolibrary.org/obo/MONDO_0011219 Fried's tooth and nail syndrome 'Fried's tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Fried's tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011218 autosomal recessive congenital ichthyosis 11 'autosomal recessive congenital ichthyosis 11' SubClassOf 'autosomal recessive congenital ichthyosis' 'autosomal recessive congenital ichthyosis 11' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0011211 axial spondylometaphyseal dysplasia 'axial spondylometaphyseal dysplasia' SubClassOf 'spondylometaphyseal dysplasia' 'axial spondylometaphyseal dysplasia' SubClassOf 'short rib dysplasia' 'axial spondylometaphyseal dysplasia' SubClassOf 'spondylometaphyseal dysplasia' 'axial spondylometaphyseal dysplasia' SubClassOf 'short rib dysplasia' http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome 'Pierpont syndrome' SubClassOf 'syndromic intellectual disability' 'Pierpont syndrome' SubClassOf 'subcutaneous tissue disorder' 'Pierpont syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pierpont syndrome' SubClassOf 'syndromic intellectual disability' 'Pierpont syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pierpont syndrome' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0011215 osteocraniostenosis 'osteocraniostenosis' SubClassOf 'primordial dwarfism and slender bone disorder' 'osteocraniostenosis' SubClassOf 'primordial dwarfism and slender bone disorder' http://purl.obolibrary.org/obo/MONDO_0011214 progressive familial intrahepatic cholestasis type 3 'progressive familial intrahepatic cholestasis type 3' SubClassOf 'progressive familial intrahepatic cholestasis' 'progressive familial intrahepatic cholestasis type 3' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'skeletal system disease' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0011229 ethylmalonic encephalopathy 'ethylmalonic encephalopathy' SubClassOf 'Mendelian encephalopathy' 'ethylmalonic encephalopathy' SubClassOf 'mitochondrial disease' 'ethylmalonic encephalopathy' SubClassOf 'Mendelian encephalopathy' 'ethylmalonic encephalopathy' SubClassOf 'mitochondrial disease' http://purl.obolibrary.org/obo/MONDO_0011223 amyotrophic lateral sclerosis type 4 'amyotrophic lateral sclerosis type 4' SubClassOf 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis type 4' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0011225 severe combined immunodeficiency due to DCLRE1C deficiency 'severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'familial severe combined immunodeficiency' 'severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'T-B- severe combined immunodeficiency' 'severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'familial severe combined immunodeficiency' 'severe combined immunodeficiency due to DCLRE1C deficiency' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011238 chondrodysplasia punctata, brachytelephalangic, autosomal 'chondrodysplasia punctata, brachytelephalangic, autosomal' SubClassOf 'autosomal dominant chondrodysplasia punctata' 'chondrodysplasia punctata, brachytelephalangic, autosomal' SubClassOf 'autosomal dominant chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0011231 febrile seizures, familial, 2 'febrile seizures, familial, 2' SubClassOf 'febrile seizures, familial' 'febrile seizures, familial, 2' SubClassOf 'febrile seizures, familial' http://purl.obolibrary.org/obo/MONDO_0011235 pelvic dysplasia-arthrogryposis of lower limbs syndrome 'pelvic dysplasia-arthrogryposis of lower limbs syndrome' SubClassOf 'dysostosis' 'pelvic dysplasia-arthrogryposis of lower limbs syndrome' SubClassOf 'skeletal dysplasia' 'pelvic dysplasia-arthrogryposis of lower limbs syndrome' SubClassOf 'dysostosis' 'pelvic dysplasia-arthrogryposis of lower limbs syndrome' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011236 hyperinsulinism due to glucokinase deficiency 'hyperinsulinism due to glucokinase deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' 'hyperinsulinism due to glucokinase deficiency' SubClassOf 'disorder of glycolysis' 'hyperinsulinism due to glucokinase deficiency' SubClassOf 'disorder of glycolysis' 'hyperinsulinism due to glucokinase deficiency' SubClassOf 'diazoxide-sensitive diffuse hyperinsulinism' http://purl.obolibrary.org/obo/MONDO_0011242 Bartter disease type 4A 'Bartter disease type 4A' SubClassOf 'Bartter syndrome type 4' 'Bartter disease type 4A' SubClassOf 'Bartter syndrome type 4' http://purl.obolibrary.org/obo/MONDO_0011244 Marshall-Smith syndrome 'Marshall-Smith syndrome' SubClassOf 'syndromic disease' 'Marshall-Smith syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Marshall-Smith syndrome' SubClassOf 'skeletal dysplasia' 'Marshall-Smith syndrome' SubClassOf 'overgrowth syndrome' 'Marshall-Smith syndrome' SubClassOf 'syndromic disease' 'Marshall-Smith syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Marshall-Smith syndrome' SubClassOf 'skeletal dysplasia' 'Marshall-Smith syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0011243 grange syndrome 'grange syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'grange syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011246 megaconial type congenital muscular dystrophy 'megaconial type congenital muscular dystrophy' SubClassOf 'congenital muscular dystrophy' 'megaconial type congenital muscular dystrophy' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0011248 distal monosomy 13q 'distal monosomy 13q' SubClassOf 'syndromic disease' 'distal monosomy 13q' SubClassOf 'partial deletion of the long arm of chromosome 13' 'distal monosomy 13q' SubClassOf 'syndromic disease' 'distal monosomy 13q' SubClassOf 'partial deletion of the long arm of chromosome 13' http://purl.obolibrary.org/obo/MONDO_0011240 megalencephaly-capillary malformation-polymicrogyria syndrome 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes' http://purl.obolibrary.org/obo/GO_0042360 vitamin E metabolic process 'vitamin E metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0011253 craniomicromelic syndrome 'craniomicromelic syndrome' SubClassOf 'syndromic craniosynostosis' 'craniomicromelic syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011252 spondyloepimetaphyseal dysplasia, Shohat type 'spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011255 mandibulofacial dysostosis-macroblepharon-macrostomia syndrome 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'dysostosis' 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'mandibulofacial dysostosis' 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'dysostosis' 'mandibulofacial dysostosis-macroblepharon-macrostomia syndrome' SubClassOf 'mandibulofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0011257 MPI-congenital disorder of glycosylation 'MPI-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'MPI-congenital disorder of glycosylation' SubClassOf 'syndromic disease' 'MPI-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'MPI-congenital disorder of glycosylation' SubClassOf 'disorder of protein N-glycosylation' 'MPI-congenital disorder of glycosylation' SubClassOf 'syndromic disease' 'MPI-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0011264 torsion dystonia 6 'torsion dystonia 6' SubClassOf 'generalized dystonia' 'torsion dystonia 6' SubClassOf 'generalized dystonia' http://purl.obolibrary.org/obo/MONDO_0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal 'skeletal dysplasia and progressive central nervous system degeneration, lethal' SubClassOf 'genetic disorder' 'skeletal dysplasia and progressive central nervous system degeneration, lethal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011266 myotonic dystrophy type 2 'myotonic dystrophy type 2' SubClassOf 'myotonic dystrophy' 'myotonic dystrophy type 2' SubClassOf 'myotonic dystrophy' http://purl.obolibrary.org/obo/MONDO_0011265 tooth agenesis, selective, 2 'tooth agenesis, selective, 2' SubClassOf 'tooth agenesis' 'tooth agenesis, selective, 2' SubClassOf 'tooth agenesis' http://purl.obolibrary.org/obo/MONDO_0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 'renal tubular acidosis, distal, 3, with or without sensorineural hearing loss' SubClassOf 'autosomal recessive distal renal tubular acidosis' 'renal tubular acidosis, distal, 3, with or without sensorineural hearing loss' SubClassOf 'renal tubular acidosis' 'renal tubular acidosis, distal, 3, with or without sensorineural hearing loss' SubClassOf 'autosomal recessive distal renal tubular acidosis' 'renal tubular acidosis, distal, 3, with or without sensorineural hearing loss' SubClassOf 'renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0011269 psoriasis 2 'psoriasis 2' SubClassOf 'psoriasis' 'psoriasis 2' SubClassOf 'psoriasis' http://purl.obolibrary.org/obo/MONDO_0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 'spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011275 acromesomelic dysplasia 1, Maroteaux type 'acromesomelic dysplasia 1, Maroteaux type' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 1, Maroteaux type' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011274 Muenke syndrome 'Muenke syndrome' SubClassOf 'syndromic craniosynostosis' 'Muenke syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011271 rigid spine muscular dystrophy 1 'rigid spine muscular dystrophy 1' SubClassOf 'rigid spine syndrome' 'rigid spine muscular dystrophy 1' SubClassOf 'multiminicore myopathy' 'rigid spine muscular dystrophy 1' SubClassOf 'rigid spine syndrome' 'rigid spine muscular dystrophy 1' SubClassOf 'multiminicore myopathy' http://purl.obolibrary.org/obo/MONDO_0011273 H syndrome 'H syndrome' SubClassOf 'sinus histiocytosis with massive lymphadenopathy' 'H syndrome' SubClassOf 'laryngeal disease' 'H syndrome' SubClassOf 'hyperpigmentation of the skin' 'H syndrome' SubClassOf 'sinus histiocytosis with massive lymphadenopathy' 'H syndrome' SubClassOf 'laryngeal disease' 'H syndrome' SubClassOf 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0011287 craniosynostosis-anal anomalies-porokeratosis syndrome 'craniosynostosis-anal anomalies-porokeratosis syndrome' SubClassOf 'syndromic craniosynostosis' 'craniosynostosis-anal anomalies-porokeratosis syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011283 mitochondrial DNA depletion syndrome 1 'mitochondrial DNA depletion syndrome 1' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 1' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0011055 distal monosomy 10p 'distal monosomy 10p' SubClassOf 'genetic disorder' 'distal monosomy 10p' SubClassOf 'partial deletion of the short arm of chromosome 10' 'distal monosomy 10p' SubClassOf 'genetic disorder' 'distal monosomy 10p' SubClassOf 'partial deletion of the short arm of chromosome 10' http://purl.obolibrary.org/obo/MONDO_0011054 autosomal recessive amelia 'autosomal recessive amelia' SubClassOf 'autosomal recessive disease' 'autosomal recessive amelia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0011059 holoprosencephaly-craniosynostosis syndrome 'holoprosencephaly-craniosynostosis syndrome' SubClassOf 'syndromic craniosynostosis' 'holoprosencephaly-craniosynostosis syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011051 lethal short-limb skeletal dysplasia, Al Gazali type 'lethal short-limb skeletal dysplasia, Al Gazali type' SubClassOf 'dysplastic cortical hyperostosis' 'lethal short-limb skeletal dysplasia, Al Gazali type' SubClassOf 'dysplastic cortical hyperostosis' http://purl.obolibrary.org/obo/MONDO_0011050 microcephaly-cardiac defect-lung malsegmentation syndrome 'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf 'heart disease' 'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf 'heart disease' 'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011053 intellectual disability-sparse hair-brachydactyly syndrome 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'BAFopathy' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'BAFopathy' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0025699 Coffin-Siris syndrome 12 'Coffin-Siris syndrome 12' SubClassOf 'Coffin-Siris syndrome' 'Coffin-Siris syndrome 12' SubClassOf 'Coffin-Siris syndrome' http://purl.obolibrary.org/obo/MONDO_0011066 Charcot-Marie-Tooth disease type 4B1 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4B1' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011065 Hunter-McAlpine craniosynostosis 'Hunter-McAlpine craniosynostosis' SubClassOf 'syndromic craniosynostosis' 'Hunter-McAlpine craniosynostosis' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract 'early-onset non-syndromic cataract' SubClassOf 'cataract' 'early-onset non-syndromic cataract' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0011062 aprosencephaly cerebellar dysgenesis 'aprosencephaly cerebellar dysgenesis' SubClassOf 'central nervous system malformation' 'aprosencephaly cerebellar dysgenesis' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0011064 lethal chondrodysplasia, Seller type 'lethal chondrodysplasia, Seller type' SubClassOf 'skeletal dysplasia' 'lethal chondrodysplasia, Seller type' SubClassOf 'osteochondrodysplasia' 'lethal chondrodysplasia, Seller type' SubClassOf 'skeletal dysplasia' 'lethal chondrodysplasia, Seller type' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type 'hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'ectodermal dysplasia syndrome' 'hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 'myofibrillar myopathy 1' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 1' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0011079 rhizomelic dysplasia, Patterson-Lowry type 'rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'skeletal dysplasia' 'rhizomelic dysplasia, Patterson-Lowry type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011071 hereditary thrombocytopenia and hematologic cancer predisposition syndrome 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'hereditary neoplastic syndrome' 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'inherited blood coagulation disorder' 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'hereditary neoplastic syndrome' 'hereditary thrombocytopenia and hematologic cancer predisposition syndrome' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0011070 van Maldergem syndrome 1 'van Maldergem syndrome 1' SubClassOf 'van Maldergem syndrome' 'van Maldergem syndrome 1' SubClassOf 'van Maldergem syndrome' http://purl.obolibrary.org/obo/MONDO_0011074 autosomal dominant nonsyndromic hearing loss 7 'autosomal dominant nonsyndromic hearing loss 7' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 7' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011080 progressive deafness with stapes fixation 'progressive deafness with stapes fixation' SubClassOf 'genetic disorder' 'progressive deafness with stapes fixation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011082 oculoauriculofrontonasal syndrome 'oculoauriculofrontonasal syndrome' SubClassOf 'frontonasal dysplasia' 'oculoauriculofrontonasal syndrome' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011081 dislocation of the hip-dysmorphism syndrome 'dislocation of the hip-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'dislocation of the hip-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011083 trichodental syndrome 'trichodental syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'trichodental syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011086 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive' SubClassOf 'familial severe combined immunodeficiency' 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive' SubClassOf 'T-B- severe combined immunodeficiency' 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive' SubClassOf 'familial severe combined immunodeficiency' 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive' SubClassOf 'T-B- severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011085 Charcot-Marie-Tooth disease type 4D 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4D' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011099 human HOXA1 syndromes 'human HOXA1 syndromes' SubClassOf 'syndromic disease' 'human HOXA1 syndromes' SubClassOf 'autosomal recessive disease' 'human HOXA1 syndromes' SubClassOf 'syndromic disease' 'human HOXA1 syndromes' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0011091 Charcot-Marie-Tooth disease type 2D 'Charcot-Marie-Tooth disease type 2D' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'Charcot-Marie-Tooth disease type 2D' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0011090 isolated hereditary congenital facial paralysis 'isolated hereditary congenital facial paralysis' SubClassOf 'congenital nervous system disorder' 'isolated hereditary congenital facial paralysis' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011093 mucopolysaccharidosis type 9 'mucopolysaccharidosis type 9' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 9' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0011096 autosomal agammaglobulinemia 'autosomal agammaglobulinemia' SubClassOf 'isolated agammaglobulinemia' 'autosomal agammaglobulinemia' SubClassOf 'isolated agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0001700 megaloblastic anemia 'megaloblastic anemia' SubClassOf 'macrocytic anemia' 'megaloblastic anemia' SubClassOf 'macrocytic anemia' http://purl.obolibrary.org/obo/MONDO_0001709 hypercalcemic sarcoidosis 'hypercalcemic sarcoidosis' SubClassOf 'sarcoidosis' 'hypercalcemic sarcoidosis' SubClassOf 'sarcoidosis' http://purl.obolibrary.org/obo/MONDO_0001704 vaginal glandular neoplasm 'vaginal glandular neoplasm' EquivalentTo 'glandular cell neoplasm' and ('disease has location' some 'vagina') 'vaginal glandular neoplasm' SubClassOf 'Vaginal neoplasm' 'vaginal glandular neoplasm' EquivalentTo 'glandular cell neoplasm' and ('disease has location' some 'vagina') 'vaginal glandular neoplasm' SubClassOf 'Vaginal neoplasm' http://purl.obolibrary.org/obo/MONDO_0001703 color vision disorder 'color vision disorder' SubClassOf 'blindness (disorder)' 'color vision disorder' SubClassOf 'blindness (disorder)' http://purl.obolibrary.org/obo/MONDO_0001701 gastrointestinal anthrax 'gastrointestinal anthrax' SubClassOf 'anthrax infection' 'gastrointestinal anthrax' SubClassOf 'anthrax infection' http://purl.obolibrary.org/obo/MONDO_0001707 cardiac sarcoidosis 'cardiac sarcoidosis' SubClassOf 'sarcoidosis' 'cardiac sarcoidosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'cardiac sarcoidosis' SubClassOf 'Non-familial restrictive cardiomyopathy' 'cardiac sarcoidosis' SubClassOf 'sarcoidosis' http://purl.obolibrary.org/obo/MONDO_0001705 pure red-cell aplasia 'pure red-cell aplasia' SubClassOf 'anemia' 'pure red-cell aplasia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0001713 inherited aplastic anemia 'inherited aplastic anemia' SubClassOf 'aplastic anemia' 'inherited aplastic anemia' SubClassOf 'aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0001719 gonococcal bursitis 'gonococcal bursitis' SubClassOf 'bursitis' 'gonococcal bursitis' SubClassOf 'gonorrhea' 'gonococcal bursitis' SubClassOf 'bursitis' 'gonococcal bursitis' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/MONDO_0001718 scleritis 'scleritis' SubClassOf 'scleral disorder' 'scleritis' SubClassOf 'scleral disorder' http://purl.obolibrary.org/obo/MONDO_0001721 urethral intrinsic sphincter deficiency 'urethral intrinsic sphincter deficiency' SubClassOf 'urethral disease' 'urethral intrinsic sphincter deficiency' SubClassOf 'urethral disease' http://purl.obolibrary.org/obo/MONDO_0001720 gonococcal synovitis 'gonococcal synovitis' SubClassOf 'synovitis' 'gonococcal synovitis' SubClassOf 'synovitis' http://purl.obolibrary.org/obo/MONDO_1010029 aleutian mink disease, human 'aleutian mink disease, human' SubClassOf 'Parvoviridae infectious disease' 'aleutian mink disease, human' SubClassOf 'Parvoviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0001724 supraglottis cancer 'supraglottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 'supraglottis cancer' SubClassOf 'supraglottis neoplasm' 'supraglottis cancer' SubClassOf 'Malignant Laryngeal Neoplasm' 'supraglottis cancer' SubClassOf 'supraglottis neoplasm' http://purl.obolibrary.org/obo/MONDO_0001730 urethral syndrome 'urethral syndrome' SubClassOf 'urethral disease' 'urethral syndrome' SubClassOf 'urethral disease' http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis 'tuberous sclerosis' SubClassOf 'neurocutaneous syndrome' 'tuberous sclerosis' SubClassOf 'autosomal dominant disease' 'tuberous sclerosis' SubClassOf 'hereditary neoplastic syndrome' 'tuberous sclerosis' SubClassOf 'neurocutaneous syndrome' 'tuberous sclerosis' SubClassOf 'autosomal dominant disease' 'tuberous sclerosis' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0025708 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 'megacystis-microcolon-intestinal hypoperistalsis syndrome 2' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' 'megacystis-microcolon-intestinal hypoperistalsis syndrome 2' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' http://purl.obolibrary.org/obo/MONDO_0001740 cornea squamous cell carcinoma 'cornea squamous cell carcinoma' SubClassOf 'eye carcinoma' 'cornea squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'cornea squamous cell carcinoma' SubClassOf 'cornea cancer' 'cornea squamous cell carcinoma' SubClassOf 'eye carcinoma' 'cornea squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'cornea squamous cell carcinoma' SubClassOf 'cornea cancer' http://purl.obolibrary.org/obo/MONDO_0001744 angle-closure glaucoma 'angle-closure glaucoma' SubClassOf 'glaucoma' 'angle-closure glaucoma' SubClassOf 'glaucoma' http://purl.obolibrary.org/obo/MONDO_0001748 maxillary sinus carcinoma 'maxillary sinus carcinoma' SubClassOf 'maxillary sinus neoplasm' 'maxillary sinus carcinoma' SubClassOf 'paranasal sinus carcinoma' 'maxillary sinus carcinoma' SubClassOf 'maxillary sinus neoplasm' 'maxillary sinus carcinoma' SubClassOf 'paranasal sinus carcinoma' http://purl.obolibrary.org/obo/MONDO_0001747 tibial collateral ligament bursitis 'tibial collateral ligament bursitis' SubClassOf 'enthesopathy' 'tibial collateral ligament bursitis' SubClassOf 'enthesopathy' http://purl.obolibrary.org/obo/MONDO_0001749 cortical senile cataract 'cortical senile cataract' SubClassOf 'senile cataract' 'cortical senile cataract' SubClassOf 'senile cataract' http://purl.obolibrary.org/obo/MONDO_0001751 cholestasis 'cholestasis' SubClassOf 'bile duct disorder' 'cholestasis' SubClassOf 'bile duct disorder' http://purl.obolibrary.org/obo/MONDO_0001750 non-renal secondary hyperparathyroidism 'non-renal secondary hyperparathyroidism' SubClassOf 'secondary hyperparathyroidism' 'non-renal secondary hyperparathyroidism' SubClassOf 'secondary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0001758 paranasal sinus sarcoma 'paranasal sinus sarcoma' SubClassOf 'soft tissue sarcoma' 'paranasal sinus sarcoma' SubClassOf 'paranasal sinus carcinoma' 'paranasal sinus sarcoma' SubClassOf 'soft tissue sarcoma' 'paranasal sinus sarcoma' SubClassOf 'paranasal sinus carcinoma' http://purl.obolibrary.org/obo/MONDO_0001760 photokeratitis 'photokeratitis' SubClassOf 'keratitis' 'photokeratitis' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0001764 ethmoidal sinus neoplasm 'ethmoidal sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' 'ethmoidal sinus neoplasm' SubClassOf 'paranasal sinus neoplasm' http://purl.obolibrary.org/obo/MONDO_0001763 ethmoid sinus cancer 'ethmoid sinus cancer' SubClassOf 'paranasal sinus carcinoma' 'ethmoid sinus cancer' SubClassOf 'ethmoidal sinus neoplasm' 'ethmoid sinus cancer' SubClassOf 'paranasal sinus carcinoma' 'ethmoid sinus cancer' SubClassOf 'ethmoidal sinus neoplasm' http://purl.obolibrary.org/obo/MONDO_0001770 gastrin secretion abnormality 'gastrin secretion abnormality' SubClassOf 'endocrine pancreas disorder' 'gastrin secretion abnormality' SubClassOf 'endocrine pancreas disorder' http://purl.obolibrary.org/obo/MONDO_0001777 acute gonococcal cystitis 'acute gonococcal cystitis' SubClassOf 'acute cystitis' 'acute gonococcal cystitis' SubClassOf 'gonococcal cystitis' 'acute gonococcal cystitis' SubClassOf 'acute cystitis' 'acute gonococcal cystitis' SubClassOf 'gonococcal cystitis' http://purl.obolibrary.org/obo/MONDO_0001776 prostate calculus 'prostate calculus' SubClassOf 'lower urinary tract calculus' 'prostate calculus' SubClassOf 'lower urinary tract calculus' http://purl.obolibrary.org/obo/MONDO_0001779 vaginal squamous papilloma 'vaginal squamous papilloma' SubClassOf 'vaginal squamous tumor' 'vaginal squamous papilloma' SubClassOf 'benign vaginal neoplasm' 'vaginal squamous papilloma' SubClassOf 'squamous papilloma' 'vaginal squamous papilloma' SubClassOf 'vaginal squamous tumor' 'vaginal squamous papilloma' SubClassOf 'benign vaginal neoplasm' 'vaginal squamous papilloma' SubClassOf 'squamous papilloma' http://purl.obolibrary.org/obo/MONDO_0001784 malignant renovascular hypertension 'malignant renovascular hypertension' SubClassOf 'malignant hypertensive renal disease' 'malignant renovascular hypertension' SubClassOf 'malignant secondary hypertension' 'malignant renovascular hypertension' SubClassOf 'malignant hypertensive renal disease' 'malignant renovascular hypertension' SubClassOf 'malignant secondary hypertension' http://purl.obolibrary.org/obo/MONDO_0001785 malignant secondary hypertension 'malignant secondary hypertension' SubClassOf 'malignant hypertension' 'malignant secondary hypertension' SubClassOf 'secondary hypertension' 'malignant secondary hypertension' SubClassOf 'malignant hypertension' 'malignant secondary hypertension' SubClassOf 'secondary hypertension' http://purl.obolibrary.org/obo/MONDO_0011107 congenital hypotrichosis with juvenile macular dystrophy 'congenital hypotrichosis with juvenile macular dystrophy' SubClassOf 'ectodermal dysplasia syndrome' 'congenital hypotrichosis with juvenile macular dystrophy' SubClassOf 'hypotrichosis' 'congenital hypotrichosis with juvenile macular dystrophy' SubClassOf 'ectodermal dysplasia syndrome' 'congenital hypotrichosis with juvenile macular dystrophy' SubClassOf 'hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0011109 multiple epiphyseal dysplasia, Lowry type 'multiple epiphyseal dysplasia, Lowry type' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, Lowry type' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0001780 premature ejaculation 'premature ejaculation' SubClassOf 'sexual and gender identity disorders' 'premature ejaculation' SubClassOf 'sexual and gender identity disorders' http://purl.obolibrary.org/obo/MONDO_0011101 peroxisome biogenesis disorder 1B 'peroxisome biogenesis disorder 1B' SubClassOf 'peroxisome biogenesis disorder due to PEX1 defect' 'peroxisome biogenesis disorder 1B' SubClassOf 'peroxisome biogenesis disorder due to PEX1 defect' http://purl.obolibrary.org/obo/MONDO_0011103 autosomal dominant nonsyndromic hearing loss 3A 'autosomal dominant nonsyndromic hearing loss 3A' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 3A' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0001798 hypermobility syndrome 'hypermobility syndrome' SubClassOf 'joint disease' 'hypermobility syndrome' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis 'iridogoniodysgenesis' SubClassOf 'anterior segment dysgenesis' 'iridogoniodysgenesis' SubClassOf 'anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0001790 spinal cord lipoma 'spinal cord lipoma' SubClassOf 'central nervous system lipoma' 'spinal cord lipoma' SubClassOf 'benign neoplasm of spinal cord' 'spinal cord lipoma' SubClassOf 'central nervous system lipoma' 'spinal cord lipoma' SubClassOf 'benign neoplasm of spinal cord' http://purl.obolibrary.org/obo/MONDO_0011110 dyssegmental dysplasia-glaucoma syndrome 'dyssegmental dysplasia-glaucoma syndrome' SubClassOf 'eye disease' 'dyssegmental dysplasia-glaucoma syndrome' SubClassOf 'syndromic disease' 'dyssegmental dysplasia-glaucoma syndrome' SubClassOf 'eye disease' 'dyssegmental dysplasia-glaucoma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011114 familial multiple trichoepithelioma 'familial multiple trichoepithelioma' SubClassOf 'Brooke-Spiegler syndrome' 'familial multiple trichoepithelioma' SubClassOf 'Brooke-Spiegler syndrome' http://purl.obolibrary.org/obo/MONDO_0011113 Charcot-Marie-Tooth disease type 4C 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'Charcot-Marie-Tooth disease type 4' 'Charcot-Marie-Tooth disease type 4C' SubClassOf 'Charcot-Marie-Tooth disease type 4' http://purl.obolibrary.org/obo/MONDO_0011116 lung agenesis-heart defect-thumb anomalies syndrome 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'respiratory system disease' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'syndromic disease' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'respiratory system disease' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'syndromic disease' 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0011128 Sheldon-hall syndrome 'Sheldon-hall syndrome' SubClassOf 'distal arthrogryposis' 'Sheldon-hall syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0011125 trichothiodystrophy 1, photosensitive 'trichothiodystrophy 1, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' 'trichothiodystrophy 1, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' http://purl.obolibrary.org/obo/MONDO_0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome 'spondyloepimetaphyseal dysplasia-abnormal dentition syndrome' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia-abnormal dentition syndrome' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 'T-cell immunodeficiency, congenital alopecia, and nail dystrophy' SubClassOf 'severe combined immunodeficiency' 'T-cell immunodeficiency, congenital alopecia, and nail dystrophy' SubClassOf 'severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011131 tricho-oculo-dermo-vertebral syndrome 'tricho-oculo-dermo-vertebral syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'tricho-oculo-dermo-vertebral syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011134 Curry-Jones syndrome 'Curry-Jones syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Curry-Jones syndrome' SubClassOf 'syndromic craniosynostosis' 'Curry-Jones syndrome' SubClassOf 'syndromic craniosynostosis' 'Curry-Jones syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011133 deaf blind hypopigmentation syndrome, Yemenite type 'deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'hypopigmentation of the skin' 'deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0011136 Quebec platelet disorder 'Quebec platelet disorder' SubClassOf 'alpha granule disease' 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' 'Quebec platelet disorder' SubClassOf 'alpha granule disease' 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0011138 systemic lupus erythematosus, susceptibility to, 1 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0011137 retinitis pigmentosa 19 'retinitis pigmentosa 19' SubClassOf 'ABCA4-related retinopathy' 'retinitis pigmentosa 19' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 19' SubClassOf 'ABCA4-related retinopathy' 'retinitis pigmentosa 19' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0011143 cone-rod dystrophy 6 'cone-rod dystrophy 6' SubClassOf 'GUCY2D retinopathy' 'cone-rod dystrophy 6' SubClassOf 'cone-rod dystrophy' 'cone-rod dystrophy 6' SubClassOf 'GUCY2D retinopathy' 'cone-rod dystrophy 6' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'distal arthrogryposis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'distal arthrogryposis' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome 'colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011144 ceroid lipofuscinosis, neuronal, 6A 'ceroid lipofuscinosis, neuronal, 6A' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' 'ceroid lipofuscinosis, neuronal, 6A' SubClassOf 'late infantile neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0011147 chromosome 18q deletion syndrome 'chromosome 18q deletion syndrome' SubClassOf 'syndromic disease' 'chromosome 18q deletion syndrome' SubClassOf 'partial deletion of chromosome 18' 'chromosome 18q deletion syndrome' SubClassOf 'disease has major feature' some 'cataract' 'chromosome 18q deletion syndrome' SubClassOf 'syndromic disease' 'chromosome 18q deletion syndrome' SubClassOf 'partial deletion of chromosome 18' 'chromosome 18q deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'cataract' http://purl.obolibrary.org/obo/MONDO_0011146 tetrasomy 12p 'tetrasomy 12p' SubClassOf 'syndromic disease' 'tetrasomy 12p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 12' 'tetrasomy 12p' SubClassOf 'syndromic disease' 'tetrasomy 12p' SubClassOf 'partial trisomy/tetrasomy of the short arm of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0011141 megaloblastic anemia, folate-responsive 'megaloblastic anemia, folate-responsive' SubClassOf 'genetic disorder' 'megaloblastic anemia, folate-responsive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011154 acrofacial dysostosis, Palagonia type 'acrofacial dysostosis, Palagonia type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Palagonia type' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0011156 progressive familial intrahepatic cholestasis type 2 'progressive familial intrahepatic cholestasis type 2' SubClassOf 'progressive familial intrahepatic cholestasis' 'progressive familial intrahepatic cholestasis type 2' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0011157 Gomez-Lopez-Hernandez syndrome 'Gomez-Lopez-Hernandez syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Gomez-Lopez-Hernandez syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0011159 autosomal dominant nonsyndromic hearing loss 13 'autosomal dominant nonsyndromic hearing loss 13' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 13' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011150 acroosteolysis-keloid-like lesions-premature aging syndrome 'acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'premature aging syndrome' 'acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'premature aging syndrome' http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency 'PHGDH deficiency' SubClassOf '3-phosphoglycerate dehydrogenase deficiency' 'PHGDH deficiency' SubClassOf '3-phosphoglycerate dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 'GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder' SubClassOf 'syndromic disease' 'GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011165 glomerulopathy with fibronectin deposits 2 'glomerulopathy with fibronectin deposits 2' SubClassOf 'fibronectin glomerulopathy' 'glomerulopathy with fibronectin deposits 2' SubClassOf 'fibronectin glomerulopathy' http://purl.obolibrary.org/obo/MONDO_0011166 lymphedema-atrial septal defects-facial changes syndrome 'lymphedema-atrial septal defects-facial changes syndrome' SubClassOf 'primary lymphedema' 'lymphedema-atrial septal defects-facial changes syndrome' SubClassOf 'syndromic disease' 'lymphedema-atrial septal defects-facial changes syndrome' SubClassOf 'syndromic disease' 'lymphedema-atrial septal defects-facial changes syndrome' SubClassOf 'primary lymphedema' http://purl.obolibrary.org/obo/MONDO_0011169 keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 'keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'epidermal disease' 'keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome' SubClassOf 'epidermal disease' http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'malignant hyperthermia, susceptibility to' 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'malignant hyperthermia, susceptibility to' 'malignant hyperthermia, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant hyperthermia of anesthesia' http://purl.obolibrary.org/obo/MONDO_0001604 lagophthalmos 'lagophthalmos' SubClassOf 'eyelid disease' 'lagophthalmos' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0001606 central nervous system leukemia 'central nervous system leukemia' SubClassOf 'central nervous system hematopoietic neoplasm' 'central nervous system leukemia' SubClassOf 'leukemia' 'central nervous system leukemia' SubClassOf 'central nervous system hematopoietic neoplasm' 'central nervous system leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0001615 epidemic keratoconjunctivitis 'epidemic keratoconjunctivitis' SubClassOf 'keratoconjunctivitis' 'epidemic keratoconjunctivitis' SubClassOf 'keratoconjunctivitis' http://purl.obolibrary.org/obo/MONDO_0001627 dementia 'dementia' SubClassOf 'cognitive disorder' 'dementia' EquivalentTo 'cognitive disorder' and ('disease has major feature' some 'Dementia') 'dementia' SubClassOf 'disease has major feature' some 'Dementia' 'dementia' SubClassOf 'cognitive disorder' 'dementia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dementia' 'dementia' EquivalentTo 'cognitive disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dementia') http://purl.obolibrary.org/obo/MONDO_0001624 acute sphenoidal sinusitis 'acute sphenoidal sinusitis' SubClassOf 'sphenoid sinusitis' 'acute sphenoidal sinusitis' SubClassOf 'sphenoid sinusitis' http://purl.obolibrary.org/obo/MONDO_0001628 tinea unguium 'tinea unguium' SubClassOf 'dermatophytosis' 'tinea unguium' SubClassOf 'dermatophytosis' http://purl.obolibrary.org/obo/MONDO_0001634 bladder leiomyoma 'bladder leiomyoma' SubClassOf 'bladder benign neoplasm' 'bladder leiomyoma' SubClassOf 'leiomyoma' 'bladder leiomyoma' SubClassOf 'bladder benign neoplasm' 'bladder leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/MONDO_0001639 deficiency anemia 'deficiency anemia' SubClassOf 'anemia' 'deficiency anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0001641 severe pre-eclampsia 'severe pre-eclampsia' SubClassOf 'preeclampsia' 'severe pre-eclampsia' SubClassOf 'preeclampsia' http://purl.obolibrary.org/obo/MONDO_0001640 gonococcal spondylitis 'gonococcal spondylitis' SubClassOf 'spondylitis' 'gonococcal spondylitis' SubClassOf 'gonorrhea' 'gonococcal spondylitis' SubClassOf 'spondylitis' 'gonococcal spondylitis' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/MONDO_0001645 crescentic glomerulonephritis 'crescentic glomerulonephritis' SubClassOf 'acute proliferative glomerulonephritis' 'crescentic glomerulonephritis' SubClassOf 'acute proliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0001644 acute proliferative glomerulonephritis 'acute proliferative glomerulonephritis' SubClassOf 'proliferative glomerulonephritis' 'acute proliferative glomerulonephritis' SubClassOf 'proliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0001649 fungal esophagitis 'fungal esophagitis' SubClassOf 'esophagitis' 'fungal esophagitis' SubClassOf 'fungal infectious disease' 'fungal esophagitis' SubClassOf 'esophagitis' 'fungal esophagitis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0001652 scrotum melanoma 'scrotum melanoma' SubClassOf 'melanoma' 'scrotum melanoma' SubClassOf 'scrotum neoplasm' 'scrotum melanoma' SubClassOf 'melanoma' 'scrotum melanoma' SubClassOf 'scrotum neoplasm' http://purl.obolibrary.org/obo/MONDO_0001651 scrotum squamous cell carcinoma 'scrotum squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'scrotum squamous cell carcinoma' SubClassOf 'scrotal carcinoma' 'scrotum squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'scrotum squamous cell carcinoma' SubClassOf 'scrotal carcinoma' http://purl.obolibrary.org/obo/MONDO_0001650 acute cystitis 'acute cystitis' SubClassOf 'bacterial urinary tract infection' 'acute cystitis' SubClassOf 'bacterial urinary tract infection' http://purl.obolibrary.org/obo/MONDO_0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 'Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0001658 nontoxic goiter 'nontoxic goiter' SubClassOf 'goiter' 'nontoxic goiter' SubClassOf 'goiter' http://purl.obolibrary.org/obo/MONDO_0001657 brain cancer 'brain cancer' SubClassOf 'brain neoplasm' 'brain cancer' SubClassOf 'central nervous system cancer' 'brain cancer' SubClassOf 'central nervous system cancer' 'brain cancer' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0001674 diverticulitis of colon 'diverticulitis of colon' SubClassOf 'diverticulitis' 'diverticulitis of colon' SubClassOf 'colonic disorder' 'diverticulitis of colon' SubClassOf 'diverticulitis' 'diverticulitis of colon' SubClassOf 'colonic disorder' http://purl.obolibrary.org/obo/MONDO_0001673 diarrheal disease 'diarrheal disease' SubClassOf 'digestive system disease' 'diarrheal disease' EquivalentTo 'disease' and ('disease has major feature' some 'Diarrhea') 'diarrheal disease' SubClassOf 'disease has major feature' some 'Diarrhea' 'diarrheal disease' SubClassOf 'digestive system disease' 'diarrheal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Diarrhea') 'diarrheal disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Diarrhea' http://purl.obolibrary.org/obo/MONDO_0001672 bronchus cancer 'bronchus cancer' SubClassOf 'respiratory system cancer' 'bronchus cancer' SubClassOf 'bronchial neoplasm' 'bronchus cancer' SubClassOf 'respiratory system cancer' 'bronchus cancer' SubClassOf 'bronchial neoplasm' http://purl.obolibrary.org/obo/MONDO_0001678 intestinal tuberculosis 'intestinal tuberculosis' SubClassOf 'gastrointestinal tuberculosis' 'intestinal tuberculosis' SubClassOf 'gastrointestinal tuberculosis' http://purl.obolibrary.org/obo/MONDO_0001676 erythropoietic protoporphyria 'erythropoietic protoporphyria' SubClassOf 'hepatic porphyria' 'erythropoietic protoporphyria' SubClassOf 'hepatic porphyria' http://purl.obolibrary.org/obo/MONDO_0001684 exocrine pancreatic insufficiency 'exocrine pancreatic insufficiency' SubClassOf 'pancreas disease' 'exocrine pancreatic insufficiency' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome 'cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011007 diaphragmatic defect-limb deficiency-skull defect syndrome 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'syndromic disease' 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0001680 vaginal mullerian papilloma 'vaginal mullerian papilloma' SubClassOf 'benign vaginal neoplasm' 'vaginal mullerian papilloma' EquivalentTo 'benign vaginal neoplasm' and 'vaginal glandular neoplasm' and 'papilloma' 'vaginal mullerian papilloma' SubClassOf 'vaginal glandular neoplasm' 'vaginal mullerian papilloma' SubClassOf 'benign vaginal neoplasm' 'vaginal mullerian papilloma' EquivalentTo 'benign vaginal neoplasm' and 'vaginal glandular neoplasm' and 'papilloma' 'vaginal mullerian papilloma' SubClassOf 'vaginal glandular neoplasm' http://purl.obolibrary.org/obo/MONDO_0011002 neuropathy, hereditary motor and sensory, type 6A 'neuropathy, hereditary motor and sensory, type 6A' SubClassOf 'hereditary motor and sensory neuropathy type 6' 'neuropathy, hereditary motor and sensory, type 6A' SubClassOf 'motor peripheral neuropathy' 'neuropathy, hereditary motor and sensory, type 6A' SubClassOf 'Charcot-Marie-Tooth disease' 'neuropathy, hereditary motor and sensory, type 6A' SubClassOf 'hereditary motor and sensory neuropathy type 6' 'neuropathy, hereditary motor and sensory, type 6A' SubClassOf 'motor peripheral neuropathy' 'neuropathy, hereditary motor and sensory, type 6A' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0011001 Brugada syndrome 1 'Brugada syndrome 1' SubClassOf 'Brugada syndrome' 'Brugada syndrome 1' SubClassOf 'Brugada syndrome' http://purl.obolibrary.org/obo/MONDO_0011004 lissencephaly type 3-metacarpal bone dysplasia syndrome 'lissencephaly type 3-metacarpal bone dysplasia syndrome' SubClassOf 'lissencephaly type 3' 'lissencephaly type 3-metacarpal bone dysplasia syndrome' SubClassOf 'lissencephaly type 3' http://purl.obolibrary.org/obo/MONDO_0011003 dilated cardiomyopathy 1E 'dilated cardiomyopathy 1E' SubClassOf 'syndromic disease' 'dilated cardiomyopathy 1E' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1E' SubClassOf 'syndromic disease' 'dilated cardiomyopathy 1E' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0001699 tinea manuum 'tinea manuum' SubClassOf 'dermatophytosis' 'tinea manuum' SubClassOf 'dermatophytosis' http://purl.obolibrary.org/obo/MONDO_0001697 reading disorder 'reading disorder' SubClassOf 'learning disability' 'reading disorder' SubClassOf 'learning disability' http://purl.obolibrary.org/obo/MONDO_0011019 alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome 'alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf 'alopecia' 'alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0011018 brachyolmia-amelogenesis imperfecta syndrome 'brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'brachyolmia-amelogenesis imperfecta syndrome' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011011 skeletal dysplasia-epilepsy-short stature syndrome 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'skeletal dysplasia' 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'syndromic disease' 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'skeletal dysplasia' 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011010 Matthew-Wood syndrome 'Matthew-Wood syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Matthew-Wood syndrome' SubClassOf 'syndromic microphthalmia' 'Matthew-Wood syndrome' SubClassOf 'thoracic malformation' 'Matthew-Wood syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Matthew-Wood syndrome' SubClassOf 'syndromic microphthalmia' 'Matthew-Wood syndrome' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0011013 autosomal dominant hypocalcemia 1 'autosomal dominant hypocalcemia 1' SubClassOf 'autosomal dominant hypocalcemia' 'autosomal dominant hypocalcemia 1' SubClassOf 'autosomal dominant hypocalcemia' http://purl.obolibrary.org/obo/MONDO_0011012 African iron overload 'African iron overload' SubClassOf 'hereditary hemochromatosis' 'African iron overload' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0011017 Naxos disease 'Naxos disease' SubClassOf 'arrhythmogenic right ventricular cardiomyopathy' 'Naxos disease' SubClassOf 'cardioectodermal syndrome' 'Naxos disease' SubClassOf 'arrhythmogenic right ventricular cardiomyopathy' 'Naxos disease' SubClassOf 'cardioectodermal syndrome' http://purl.obolibrary.org/obo/MONDO_0011022 Potocki-Shaffer syndrome 'Potocki-Shaffer syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' 'Potocki-Shaffer syndrome' SubClassOf 'syndromic disease' 'Potocki-Shaffer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Potocki-Shaffer syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' 'Potocki-Shaffer syndrome' SubClassOf 'syndromic disease' 'Potocki-Shaffer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011024 dermatitis herpetiformis, familial 'dermatitis herpetiformis, familial' SubClassOf 'dermatitis herpetiformis' 'dermatitis herpetiformis, familial' SubClassOf 'dermatitis herpetiformis' http://purl.obolibrary.org/obo/MONDO_0011023 hereditary mixed polyposis syndrome 'hereditary mixed polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'hereditary mixed polyposis syndrome' SubClassOf 'digestive system disease' 'hereditary mixed polyposis syndrome' SubClassOf 'intestinal polyposis syndrome' 'hereditary mixed polyposis syndrome' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0011026 autosomal recessive congenital ichthyosis 4A 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'lamellar ichthyosis' 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'autosomal recessive congenital ichthyosis' 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'lamellar ichthyosis' 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0011025 Cayman type cerebellar ataxia 'Cayman type cerebellar ataxia' SubClassOf 'autosomal recessive congenital cerebellar ataxia' 'Cayman type cerebellar ataxia' SubClassOf 'autosomal recessive congenital cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0011028 autosomal recessive limb-girdle muscular dystrophy type 2F 'autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'qualitative or quantitative defects of delta-sarcoglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'qualitative or quantitative defects of delta-sarcoglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2F' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0011020 osteoporosis-oculocutaneous hypopigmentation syndrome 'osteoporosis-oculocutaneous hypopigmentation syndrome' SubClassOf 'genetic disorder' 'osteoporosis-oculocutaneous hypopigmentation syndrome' SubClassOf 'musculoskeletal system disease' 'osteoporosis-oculocutaneous hypopigmentation syndrome' SubClassOf 'genetic disorder' 'osteoporosis-oculocutaneous hypopigmentation syndrome' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0011032 autosomal dominant nonsyndromic hearing loss 11 'autosomal dominant nonsyndromic hearing loss 11' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 11' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011035 neurofibromatosis-Noonan syndrome 'neurofibromatosis-Noonan syndrome' SubClassOf 'rasopathy' 'neurofibromatosis-Noonan syndrome' SubClassOf 'neurofibromatosis' 'neurofibromatosis-Noonan syndrome' SubClassOf 'neurofibromatosis' 'neurofibromatosis-Noonan syndrome' SubClassOf 'rasopathy' http://purl.obolibrary.org/obo/MONDO_0011034 odontomicronychial dysplasia 'odontomicronychial dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'odontomicronychial dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf 'autosomal dominant cerebellar ataxia type I' 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf 'autosomal dominant cerebellar ataxia type I' http://purl.obolibrary.org/obo/MONDO_0011031 autosomal dominant nonsyndromic hearing loss 10 'autosomal dominant nonsyndromic hearing loss 10' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'autosomal dominant nonsyndromic hearing loss 10' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011046 short stature, Brussels type 'short stature, Brussels type' SubClassOf 'musculoskeletal system disease' 'short stature, Brussels type' SubClassOf 'genetic disorder' 'short stature, Brussels type' SubClassOf 'musculoskeletal system disease' 'short stature, Brussels type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011045 MMEP syndrome 'MMEP syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'MMEP syndrome' SubClassOf 'syndromic microphthalmia' 'MMEP syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'MMEP syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0011048 epilepsy-microcephaly-skeletal dysplasia syndrome 'epilepsy-microcephaly-skeletal dysplasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'epilepsy-microcephaly-skeletal dysplasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011047 deafness-epiphyseal dysplasia-short stature syndrome 'deafness-epiphyseal dysplasia-short stature syndrome' SubClassOf 'genetic disorder' 'deafness-epiphyseal dysplasia-short stature syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011049 Fine-Lubinsky syndrome 'Fine-Lubinsky syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Fine-Lubinsky syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011041 ectodermal dysplasia with natal teeth, Turnpenny type 'ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0001498 varicocele 'varicocele' SubClassOf 'pelvic varices' 'varicocele' SubClassOf 'pelvic varices' http://purl.obolibrary.org/obo/MONDO_0001499 retroperitoneal lymphoma 'retroperitoneal lymphoma' SubClassOf 'retroperitoneal cancer' 'retroperitoneal lymphoma' SubClassOf 'lymphoma' 'retroperitoneal lymphoma' SubClassOf 'retroperitoneal cancer' 'retroperitoneal lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0001493 chronic pulmonary heart disease 'chronic pulmonary heart disease' SubClassOf 'cor pulmonale' 'chronic pulmonary heart disease' SubClassOf 'cor pulmonale' http://purl.obolibrary.org/obo/MONDO_0001502 retroperitoneum carcinoma 'retroperitoneum carcinoma' SubClassOf 'carcinoma' 'retroperitoneum carcinoma' SubClassOf 'retroperitoneal cancer' 'retroperitoneum carcinoma' SubClassOf 'carcinoma' 'retroperitoneum carcinoma' SubClassOf 'retroperitoneal cancer' http://purl.obolibrary.org/obo/MONDO_0001501 retroperitoneal sarcoma 'retroperitoneal sarcoma' SubClassOf 'retroperitoneal cancer' 'retroperitoneal sarcoma' SubClassOf 'soft tissue sarcoma' 'retroperitoneal sarcoma' SubClassOf 'retroperitoneal cancer' 'retroperitoneal sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0001506 prostatocystitis 'prostatocystitis' SubClassOf 'cystitis' 'prostatocystitis' SubClassOf 'cystitis' http://purl.obolibrary.org/obo/MONDO_0001507 viral labyrinthitis 'viral labyrinthitis' SubClassOf 'labyrinthitis' 'viral labyrinthitis' SubClassOf 'labyrinthitis' http://purl.obolibrary.org/obo/MONDO_0001515 corneal degeneration 'corneal degeneration' SubClassOf 'corneal disease' 'corneal degeneration' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0001519 entropion 'entropion' SubClassOf 'eyelid disease' 'entropion' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0001528 vulva cancer 'vulva cancer' SubClassOf 'Genital neoplasm, female' 'vulva cancer' SubClassOf 'vulvar neoplasm' 'vulva cancer' SubClassOf 'Genital neoplasm, female' 'vulva cancer' SubClassOf 'vulvar neoplasm' http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin 'secondary hyperparathyroidism of renal origin' SubClassOf 'impaired renal function disease' 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' 'secondary hyperparathyroidism of renal origin' SubClassOf 'impaired renal function disease' 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0001539 retinal perforation 'retinal perforation' SubClassOf 'retinal detachment' 'retinal perforation' SubClassOf 'retinal detachment' http://purl.obolibrary.org/obo/MONDO_0001538 retinal ischemia 'retinal ischemia' SubClassOf 'retinopathy' 'retinal ischemia' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0001536 vaginal leiomyoma 'vaginal leiomyoma' SubClassOf 'leiomyoma' 'vaginal leiomyoma' SubClassOf 'benign vaginal neoplasm' 'vaginal leiomyoma' SubClassOf 'leiomyoma' 'vaginal leiomyoma' SubClassOf 'benign vaginal neoplasm' http://purl.obolibrary.org/obo/MONDO_0001549 hemolytic-uremic syndrome 'hemolytic-uremic syndrome' SubClassOf 'blood coagulation disease' 'hemolytic-uremic syndrome' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/MONDO_0001551 ulceration of vulva 'ulceration of vulva' SubClassOf 'vulvar disease' 'ulceration of vulva' SubClassOf 'disease has major feature' some 'Genital ulcers' 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and ('disease has major feature' some 'Genital ulcers') 'ulceration of vulva' SubClassOf 'vulvar disease' 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Genital ulcers') 'ulceration of vulva' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Genital ulcers' http://purl.obolibrary.org/obo/MONDO_0001557 olecranon bursitis 'olecranon bursitis' SubClassOf 'enthesopathy' 'olecranon bursitis' SubClassOf 'bursitis' 'olecranon bursitis' SubClassOf 'enthesopathy' 'olecranon bursitis' SubClassOf 'bursitis' http://purl.obolibrary.org/obo/MONDO_0001554 phacogenic glaucoma 'phacogenic glaucoma' SubClassOf 'glaucoma' 'phacogenic glaucoma' SubClassOf 'glaucoma' http://purl.obolibrary.org/obo/MONDO_0001563 vestibulocochlear nerve disorder 'vestibulocochlear nerve disorder' SubClassOf 'peripheral nervous system disease' 'vestibulocochlear nerve disorder' SubClassOf 'cranial nerve neuropathy' 'vestibulocochlear nerve disorder' SubClassOf 'retrocochlear disease' 'vestibulocochlear nerve disorder' SubClassOf 'peripheral nervous system disease' 'vestibulocochlear nerve disorder' SubClassOf 'cranial nerve neuropathy' 'vestibulocochlear nerve disorder' SubClassOf 'retrocochlear disease' http://purl.obolibrary.org/obo/MONDO_0001567 nephrocalcinosis 'nephrocalcinosis' SubClassOf 'calcinosis' 'nephrocalcinosis' SubClassOf 'kidney disease' 'nephrocalcinosis' SubClassOf 'calcinosis' 'nephrocalcinosis' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0001566 hypercalcemia disease 'hypercalcemia disease' SubClassOf 'disease has major feature' some 'Hypercalcemia' 'hypercalcemia disease' SubClassOf 'calcium metabolic disease' 'hypercalcemia disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypercalcemia' 'hypercalcemia disease' SubClassOf 'calcium metabolic disease' http://purl.obolibrary.org/obo/MONDO_0001575 chronic gonococcal salpingitis 'chronic gonococcal salpingitis' SubClassOf 'gonococcal salpingitis' 'chronic gonococcal salpingitis' SubClassOf 'chronic salpingitis' 'chronic gonococcal salpingitis' SubClassOf 'gonococcal salpingitis' 'chronic gonococcal salpingitis' SubClassOf 'chronic salpingitis' http://purl.obolibrary.org/obo/MONDO_0001574 capillary disorder 'capillary disorder' SubClassOf 'vascular disease' 'capillary disorder' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0001572 leiomyoma 'leiomyoma' SubClassOf 'Benign Smooth Muscle Neoplasm' 'leiomyoma' SubClassOf 'Benign Smooth Muscle Neoplasm' http://purl.obolibrary.org/obo/MONDO_0001576 telangiectasis 'telangiectasis' SubClassOf 'peripheral vascular disease' 'telangiectasis' SubClassOf 'vascular ectasia' 'telangiectasis' SubClassOf 'peripheral vascular disease' 'telangiectasis' SubClassOf 'vascular ectasia' http://purl.obolibrary.org/obo/MONDO_0001586 mucopolysaccharidosis type 1 'mucopolysaccharidosis type 1' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 1' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0001583 diabetic polyneuropathy 'diabetic polyneuropathy' SubClassOf 'diabetic neuropathy' 'diabetic polyneuropathy' SubClassOf 'diabetic neuropathy' http://purl.obolibrary.org/obo/MONDO_0001580 lacrimal duct cancer 'lacrimal duct cancer' SubClassOf 'lacrimal system cancer' 'lacrimal duct cancer' SubClassOf 'lacrimal system cancer' http://purl.obolibrary.org/obo/MONDO_0001597 submandibular gland disorder 'submandibular gland disorder' SubClassOf 'salivary gland disease' 'submandibular gland disorder' SubClassOf 'salivary gland disease' http://purl.obolibrary.org/obo/MONDO_0001592 prolapse of female genital organ 'prolapse of female genital organ' SubClassOf 'female reproductive system disease' 'prolapse of female genital organ' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0001377 vitreous syneresis 'vitreous syneresis' SubClassOf 'eye degenerative disorder' 'vitreous syneresis' SubClassOf 'vitreous disorder' 'vitreous syneresis' SubClassOf 'eye degenerative disorder' 'vitreous syneresis' SubClassOf 'vitreous disorder' http://purl.obolibrary.org/obo/MONDO_0001374 bladder sarcoma 'bladder sarcoma' SubClassOf 'soft tissue sarcoma' 'bladder sarcoma' SubClassOf 'urinary bladder cancer' 'bladder sarcoma' SubClassOf 'soft tissue sarcoma' 'bladder sarcoma' SubClassOf 'urinary bladder cancer' http://purl.obolibrary.org/obo/MONDO_0001378 urachus cancer 'urachus cancer' SubClassOf 'urinary bladder cancer' 'urachus cancer' SubClassOf 'urinary bladder cancer' http://purl.obolibrary.org/obo/MONDO_0001370 pericardial effusion 'pericardial effusion' SubClassOf 'pericardium disorder' 'pericardial effusion' SubClassOf 'pericardium disorder' http://purl.obolibrary.org/obo/MONDO_0001388 glans penis cancer 'glans penis cancer' SubClassOf 'penile cancer' 'glans penis cancer' SubClassOf 'penile cancer' http://purl.obolibrary.org/obo/MONDO_0001387 penile sarcoma 'penile sarcoma' SubClassOf 'soft tissue sarcoma' 'penile sarcoma' SubClassOf 'penile cancer' 'penile sarcoma' SubClassOf 'soft tissue sarcoma' 'penile sarcoma' SubClassOf 'penile cancer' http://purl.obolibrary.org/obo/MONDO_0001382 hepatorenal syndrome 'hepatorenal syndrome' SubClassOf 'liver disease' 'hepatorenal syndrome' SubClassOf 'syndromic disease' 'hepatorenal syndrome' SubClassOf 'liver disease' 'hepatorenal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0001381 bladder lymphoma 'bladder lymphoma' SubClassOf 'lymphoma' 'bladder lymphoma' SubClassOf 'urinary bladder cancer' 'bladder lymphoma' SubClassOf 'lymphoma' 'bladder lymphoma' SubClassOf 'urinary bladder cancer' http://purl.obolibrary.org/obo/MONDO_0040998 Pasteurella multocida infectious disease 'Pasteurella multocida infectious disease' SubClassOf 'pasteurellosis' 'Pasteurella multocida infectious disease' SubClassOf 'pasteurellosis' http://purl.obolibrary.org/obo/MONDO_0001399 ureter leiomyoma 'ureter leiomyoma' SubClassOf 'leiomyoma' 'ureter leiomyoma' SubClassOf 'ureter benign neoplasm' 'ureter leiomyoma' SubClassOf 'leiomyoma' 'ureter leiomyoma' SubClassOf 'ureter benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0001398 ureter benign neoplasm 'ureter benign neoplasm' SubClassOf 'ureteral neoplasm' 'ureter benign neoplasm' SubClassOf 'benign urinary system neoplasm' 'ureter benign neoplasm' SubClassOf 'ureteral neoplasm' 'ureter benign neoplasm' SubClassOf 'benign urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0025354 spermatogenic failure, X-linked, 3 'spermatogenic failure, X-linked, 3' SubClassOf 'azoospermia' 'spermatogenic failure, X-linked, 3' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0025356 azoospermia, obstructive, with nephrolithiasis 'azoospermia, obstructive, with nephrolithiasis' SubClassOf 'genetic disorder' 'azoospermia, obstructive, with nephrolithiasis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked 'multiple congenital anomalies-neurodevelopmental syndrome, X-linked' SubClassOf 'genetic disorder' 'multiple congenital anomalies-neurodevelopmental syndrome, X-linked' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0025353 developmental and epileptic encephalopathy, 90 'developmental and epileptic encephalopathy, 90' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 90' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0001402 vaginal cancer 'vaginal cancer' SubClassOf 'Genital neoplasm, female' 'vaginal cancer' SubClassOf 'Vaginal neoplasm' 'vaginal cancer' SubClassOf 'Genital neoplasm, female' 'vaginal cancer' SubClassOf 'Vaginal neoplasm' http://purl.obolibrary.org/obo/MONDO_0001400 schwannoma of ureter 'schwannoma of ureter' SubClassOf 'ureter benign neoplasm' 'schwannoma of ureter' SubClassOf 'peripheral nerve schwannoma' 'schwannoma of ureter' SubClassOf 'ureter benign neoplasm' 'schwannoma of ureter' SubClassOf 'peripheral nerve schwannoma' http://purl.obolibrary.org/obo/MONDO_0001407 tracheal cancer 'tracheal cancer' SubClassOf 'respiratory system cancer' 'tracheal cancer' SubClassOf 'Tracheal neoplasm' 'tracheal cancer' SubClassOf 'respiratory system cancer' 'tracheal cancer' SubClassOf 'Tracheal neoplasm' http://purl.obolibrary.org/obo/MONDO_0001409 esophagitis 'esophagitis' SubClassOf 'esophageal disease' 'esophagitis' SubClassOf 'esophageal disease' http://purl.obolibrary.org/obo/MONDO_0001410 postmenopausal atrophic vaginitis 'postmenopausal atrophic vaginitis' SubClassOf 'vaginitis' 'postmenopausal atrophic vaginitis' SubClassOf 'vaginitis' http://purl.obolibrary.org/obo/MONDO_0001414 osteopoikilosis 'osteopoikilosis' SubClassOf 'osteosclerosis' 'osteopoikilosis' SubClassOf 'osteosclerosis' http://purl.obolibrary.org/obo/MONDO_0001418 trachea sarcoma 'trachea sarcoma' SubClassOf 'soft tissue sarcoma' 'trachea sarcoma' SubClassOf 'tracheal cancer' 'trachea sarcoma' SubClassOf 'soft tissue sarcoma' 'trachea sarcoma' SubClassOf 'tracheal cancer' http://purl.obolibrary.org/obo/MONDO_0001417 tracheal lymphoma 'tracheal lymphoma' SubClassOf 'tracheal cancer' 'tracheal lymphoma' SubClassOf 'lymphoma' 'tracheal lymphoma' SubClassOf 'tracheal cancer' 'tracheal lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0001421 frontal lobe neoplasm 'frontal lobe neoplasm' SubClassOf 'neoplasm of cerebral hemisphere' 'frontal lobe neoplasm' SubClassOf 'neoplasm of cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0001420 trigeminal nerve neoplasm 'trigeminal nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'trigeminal nerve neoplasm' SubClassOf 'cranial nerve neoplasm' http://purl.obolibrary.org/obo/MONDO_0001422 primary aldosteronism 'primary aldosteronism' SubClassOf 'hyperaldosteronism' 'primary aldosteronism' SubClassOf 'hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0001429 transient arthropathy 'transient arthropathy' SubClassOf 'joint disease' 'transient arthropathy' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0001436 hemosiderosis 'hemosiderosis' SubClassOf 'iron metabolism disease' 'hemosiderosis' SubClassOf 'iron metabolism disease' http://purl.obolibrary.org/obo/MONDO_0001434 inflammatory spondylopathy 'inflammatory spondylopathy' SubClassOf 'spondylitis' 'inflammatory spondylopathy' SubClassOf 'spondylitis' http://purl.obolibrary.org/obo/MONDO_0001433 vaginal disorder 'vaginal disorder' SubClassOf 'female reproductive system disease' 'vaginal disorder' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0001438 postinflammatory pulmonary fibrosis 'postinflammatory pulmonary fibrosis' SubClassOf 'pulmonary fibrosis' 'postinflammatory pulmonary fibrosis' SubClassOf 'pulmonary fibrosis' http://purl.obolibrary.org/obo/MONDO_0001437 pulmonary alveolar proteinosis 'pulmonary alveolar proteinosis' SubClassOf 'disease has location' some 'type II pneumocyte' 'pulmonary alveolar proteinosis' SubClassOf 'lung disease' 'pulmonary alveolar proteinosis' SubClassOf 'disease has major feature' some 'Intraalveolar phospholipid accumulation' 'pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Intraalveolar phospholipid accumulation' 'pulmonary alveolar proteinosis' SubClassOf 'lung disease' 'pulmonary alveolar proteinosis' SubClassOf 'disease has location' some 'type II pneumocyte' http://purl.obolibrary.org/obo/MONDO_0001444 Chagas disease 'Chagas disease' SubClassOf 'trypanosomiasis' 'Chagas disease' SubClassOf 'vector-borne disease' 'Chagas disease' SubClassOf 'trypanosomiasis' 'Chagas disease' SubClassOf 'vector-borne disease' http://purl.obolibrary.org/obo/MONDO_0001458 ulnar nerve lesion 'ulnar nerve lesion' SubClassOf 'ulnar neuropathy' 'ulnar nerve lesion' SubClassOf 'ulnar neuropathy' http://purl.obolibrary.org/obo/MONDO_0001459 radial neuropathy 'radial neuropathy' SubClassOf 'mononeuropathy' 'radial neuropathy' SubClassOf 'mononeuropathy' http://purl.obolibrary.org/obo/MONDO_0001464 sigmoid colon cancer 'sigmoid colon cancer' SubClassOf 'sigmoid neoplasm' 'sigmoid colon cancer' SubClassOf 'malignant colon neoplasm' 'sigmoid colon cancer' SubClassOf 'sigmoid neoplasm' 'sigmoid colon cancer' SubClassOf 'malignant colon neoplasm' http://purl.obolibrary.org/obo/MONDO_0001468 synovial plica syndrome 'synovial plica syndrome' SubClassOf 'joint disease' 'synovial plica syndrome' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/MONDO_0001476 coloboma 'coloboma' SubClassOf 'eye disease' 'coloboma' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0001474 chronic salpingo-oophoritis 'chronic salpingo-oophoritis' SubClassOf 'salpingo-oophoritis' 'chronic salpingo-oophoritis' SubClassOf 'chronic salpingitis' 'chronic salpingo-oophoritis' SubClassOf 'salpingo-oophoritis' 'chronic salpingo-oophoritis' SubClassOf 'chronic salpingitis' http://purl.obolibrary.org/obo/MONDO_0025445 Wieacker-Wolff syndrome (spectrum) 'Wieacker-Wolff syndrome (spectrum)' SubClassOf 'arthrogryposis multiplex congenita' 'Wieacker-Wolff syndrome (spectrum)' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0001256 arteriovenous hemangioma/malformation 'arteriovenous hemangioma/malformation' SubClassOf 'hemangioma' 'arteriovenous hemangioma/malformation' SubClassOf 'hemangioma' http://www.ebi.ac.uk/efo/EFO_0006352 laryngeal squamous cell carcinoma 'laryngeal squamous cell carcinoma' SubClassOf 'laryngeal carcinoma' 'laryngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'laryngeal squamous cell carcinoma' SubClassOf 'laryngeal carcinoma' 'laryngeal squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0001259 pituitary gland infarction 'pituitary gland infarction' SubClassOf 'necrosis of pituitary' 'pituitary gland infarction' SubClassOf 'necrosis of pituitary' http://purl.obolibrary.org/obo/MONDO_0001251 chronic apical periodontitis 'chronic apical periodontitis' SubClassOf 'Periapical Periodontitis' 'chronic apical periodontitis' SubClassOf 'Periapical Periodontitis' http://purl.obolibrary.org/obo/MONDO_0015898 adrenogenital syndrome 'adrenogenital syndrome' SubClassOf 'adrenal gland disease' 'adrenogenital syndrome' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0015892 growth hormone insensitivity syndrome 'growth hormone insensitivity syndrome' SubClassOf 'hereditary endocrine growth disease' 'growth hormone insensitivity syndrome' SubClassOf 'syndromic disease' 'growth hormone insensitivity syndrome' SubClassOf 'hereditary endocrine growth disease' 'growth hormone insensitivity syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0006343 chronic periodontitis 'chronic periodontitis' SubClassOf 'periodontitis' 'chronic periodontitis' SubClassOf 'periodontitis' http://purl.obolibrary.org/obo/MONDO_0001269 scleral disorder 'scleral disorder' SubClassOf 'eye disease' 'scleral disorder' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0006342 aggressive periodontitis 'aggressive periodontitis' SubClassOf 'chronic periodontitis' 'aggressive periodontitis' SubClassOf 'chronic periodontitis' http://www.ebi.ac.uk/efo/EFO_0006346 severe cutaneous adverse reaction 'severe cutaneous adverse reaction' SubClassOf 'skin disease' 'severe cutaneous adverse reaction' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0001277 cerebral arteritis 'cerebral arteritis' SubClassOf 'cerebrovascular disorder' 'cerebral arteritis' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0001275 spinal meningioma 'spinal meningioma' SubClassOf 'intraspinal meningioma' 'spinal meningioma' SubClassOf 'intraspinal meningioma' http://purl.obolibrary.org/obo/MONDO_0001279 intraspinal meningioma 'intraspinal meningioma' SubClassOf 'meningioma' 'intraspinal meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0001288 endometriosis of rectovaginal septum and vagina 'endometriosis of rectovaginal septum and vagina' SubClassOf 'endometriosis' 'endometriosis of rectovaginal septum and vagina' SubClassOf 'endometriosis' http://purl.obolibrary.org/obo/MONDO_0001280 choroiditis 'choroiditis' SubClassOf 'optic choroid disorder' 'choroiditis' SubClassOf 'optic choroid disorder' http://purl.obolibrary.org/obo/MONDO_0001285 endometriosis of pelvic peritoneum 'endometriosis of pelvic peritoneum' SubClassOf 'endometriosis' 'endometriosis of pelvic peritoneum' SubClassOf 'endometriosis' http://purl.obolibrary.org/obo/MONDO_0001284 endometriosis of intestine 'endometriosis of intestine' SubClassOf 'intestinal disease' 'endometriosis of intestine' SubClassOf 'endometriosis' 'endometriosis of intestine' SubClassOf 'intestinal disease' 'endometriosis of intestine' SubClassOf 'endometriosis' http://purl.obolibrary.org/obo/MONDO_0001282 fallopian tube endometriosis 'fallopian tube endometriosis' SubClassOf 'fallopian tube disease' 'fallopian tube endometriosis' SubClassOf 'endometriosis' 'fallopian tube endometriosis' SubClassOf 'fallopian tube disease' 'fallopian tube endometriosis' SubClassOf 'endometriosis' http://purl.obolibrary.org/obo/MONDO_0001299 diabetic autonomic neuropathy 'diabetic autonomic neuropathy' SubClassOf 'diabetic neuropathy' 'diabetic autonomic neuropathy' SubClassOf 'autonomic neuropathy' 'diabetic autonomic neuropathy' SubClassOf 'diabetic neuropathy' 'diabetic autonomic neuropathy' SubClassOf 'autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0001298 congenital mitral valve insufficiency 'congenital mitral valve insufficiency' SubClassOf 'mitral valve disease' 'congenital mitral valve insufficiency' SubClassOf 'mitral valve disease' http://purl.obolibrary.org/obo/MONDO_0001291 brain compression 'brain compression' SubClassOf 'brain disease' 'brain compression' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0001290 allergic cutaneous vasculitis 'allergic cutaneous vasculitis' SubClassOf 'hypersensitivity vasculitis' 'allergic cutaneous vasculitis' SubClassOf 'hypersensitivity vasculitis' http://purl.obolibrary.org/obo/MONDO_0001296 acquired night blindness 'acquired night blindness' SubClassOf 'nutritional deficiency disease' 'acquired night blindness' SubClassOf 'night blindness' 'acquired night blindness' SubClassOf 'nutritional deficiency disease' 'acquired night blindness' SubClassOf 'night blindness' http://purl.obolibrary.org/obo/MONDO_0001294 Horner syndrome 'Horner syndrome' SubClassOf 'autonomic neuropathy' 'Horner syndrome' SubClassOf 'autonomic neuropathy' http://www.ebi.ac.uk/efo/EFO_0006388 cystic renal cell carcinoma 'cystic renal cell carcinoma' SubClassOf 'renal cell carcinoma' 'cystic renal cell carcinoma' SubClassOf 'renal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0006387 cystadenocarcinoma 'cystadenocarcinoma' SubClassOf 'cystic neoplasm' 'cystadenocarcinoma' SubClassOf 'adenocarcinoma' 'cystadenocarcinoma' SubClassOf 'cystic neoplasm' 'cystadenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006391 dopaminergic neuroblastoma 'dopaminergic neuroblastoma' SubClassOf 'neuroblastoma' 'dopaminergic neuroblastoma' SubClassOf 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia 'syndromic dyslipidemia' SubClassOf 'inherited lipid metabolism disorder' 'syndromic dyslipidemia' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0015903 hyperalphalipoproteinemia 'hyperalphalipoproteinemia' SubClassOf 'hyperlipoproteinemia' 'hyperalphalipoproteinemia' SubClassOf 'hyperlipidemia' 'hyperalphalipoproteinemia' SubClassOf 'hyperlipoproteinemia' 'hyperalphalipoproteinemia' SubClassOf 'hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0015909 aplastic anemia 'aplastic anemia' SubClassOf 'anemia' 'aplastic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0015900 hypoaldosteronism disease 'hypoaldosteronism disease' SubClassOf 'adrenal gland disease' 'hypoaldosteronism disease' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0015914 primary orthostatic hypotension 'primary orthostatic hypotension' SubClassOf 'nervous system disease' 'primary orthostatic hypotension' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0015926 pneumoconiosis 'pneumoconiosis' SubClassOf 'interstitial lung disease' 'pneumoconiosis' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0015929 thoracic malformation 'thoracic malformation' SubClassOf 'respiratory or thoracic malformation' 'thoracic malformation' SubClassOf 'respiratory or thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy 'acquired peripheral neuropathy' SubClassOf 'peripheral neuropathy' 'acquired peripheral neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0001300 autonomic neuropathy 'autonomic neuropathy' SubClassOf 'autonomic nervous system disease' 'autonomic neuropathy' SubClassOf 'peripheral neuropathy' 'autonomic neuropathy' SubClassOf 'autonomic nervous system disease' 'autonomic neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0001302 hypertensive heart disease 'hypertensive heart disease' SubClassOf 'heart disease' 'hypertensive heart disease' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis 'inherited ichthyosis' SubClassOf 'ichthyosis' 'inherited ichthyosis' SubClassOf 'ichthyosis' http://purl.obolibrary.org/obo/MONDO_0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome 'epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf 'syndromic disease' 'epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf 'syndromic disease' 'epiphyseal dysplasia-hearing loss-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015944 axial mesodermal dysplasia spectrum 'axial mesodermal dysplasia spectrum' SubClassOf 'disorder of development or morphogenesis' 'axial mesodermal dysplasia spectrum' SubClassOf 'syndromic disease' 'axial mesodermal dysplasia spectrum' SubClassOf 'disorder of development or morphogenesis' 'axial mesodermal dysplasia spectrum' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia 'frontometaphyseal dysplasia' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'frontometaphyseal dysplasia' SubClassOf 'otopalatodigital syndrome spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0001308 corneal deposit 'corneal deposit' SubClassOf 'corneal disease' 'corneal deposit' SubClassOf 'corneal disease' http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis 'oculomotor nerve paralysis' SubClassOf 'disorder of visual system' 'oculomotor nerve paralysis' SubClassOf 'cranial nerve palsy' 'oculomotor nerve paralysis' SubClassOf 'third cranial nerve disorder' 'oculomotor nerve paralysis' SubClassOf 'disorder of visual system' 'oculomotor nerve paralysis' SubClassOf 'cranial nerve palsy' 'oculomotor nerve paralysis' SubClassOf 'third cranial nerve disorder' http://purl.obolibrary.org/obo/MONDO_0001314 chondrocalcinosis 'chondrocalcinosis' SubClassOf 'metabolic disease' 'chondrocalcinosis' SubClassOf 'arthritis' 'chondrocalcinosis' SubClassOf 'metabolic bone disorder' 'chondrocalcinosis' SubClassOf 'metabolic disease' 'chondrocalcinosis' SubClassOf 'arthritis' 'chondrocalcinosis' SubClassOf 'metabolic bone disorder' http://purl.obolibrary.org/obo/MONDO_0001318 functional gastric disease 'functional gastric disease' SubClassOf 'stomach disease' 'functional gastric disease' SubClassOf 'stomach disease' http://purl.obolibrary.org/obo/MONDO_0001316 streptococcal meningitis 'streptococcal meningitis' SubClassOf 'bacterial meningitis' 'streptococcal meningitis' SubClassOf 'bacterial meningitis' http://purl.obolibrary.org/obo/MONDO_0001322 pericardium cancer 'pericardium cancer' SubClassOf 'heart cancer' 'pericardium cancer' SubClassOf 'neoplasm of pericardium' 'pericardium cancer' SubClassOf 'heart cancer' 'pericardium cancer' SubClassOf 'neoplasm of pericardium' http://purl.obolibrary.org/obo/MONDO_0001325 penile cancer 'penile cancer' SubClassOf 'penile neoplasm' 'penile cancer' SubClassOf 'male reproductive organ cancer' 'penile cancer' SubClassOf 'penile neoplasm' 'penile cancer' SubClassOf 'male reproductive organ cancer' http://purl.obolibrary.org/obo/MONDO_0001328 thyroid hormone resistance syndrome 'thyroid hormone resistance syndrome' SubClassOf 'disease has major feature' some 'Abnormal thyroid-stimulating hormone level' 'thyroid hormone resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal thyroid-stimulating hormone level' http://purl.obolibrary.org/obo/MONDO_0001332 palindromic rheumatism 'palindromic rheumatism' SubClassOf 'syndromic disease' 'palindromic rheumatism' SubClassOf 'rheumatic disease' 'palindromic rheumatism' SubClassOf 'syndromic disease' 'palindromic rheumatism' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0001331 conjunctival deposit 'conjunctival deposit' SubClassOf 'Conjunctival Disorder' 'conjunctival deposit' SubClassOf 'Conjunctival Disorder' http://purl.obolibrary.org/obo/MONDO_0001330 presbyopia 'presbyopia' SubClassOf 'eye accommodation disease' 'presbyopia' SubClassOf 'refractive error' 'presbyopia' SubClassOf 'eye accommodation disease' 'presbyopia' SubClassOf 'refractive error' http://purl.obolibrary.org/obo/MONDO_0001336 familial hyperlipidemia 'familial hyperlipidemia' SubClassOf 'inherited lipid metabolism disorder' 'familial hyperlipidemia' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0025303 anaplasmosis 'anaplasmosis' SubClassOf 'tick-borne infectious disease' 'anaplasmosis' SubClassOf 'primary Anaplasmataceae infectious disease' 'anaplasmosis' SubClassOf 'tick-borne infectious disease' 'anaplasmosis' SubClassOf 'primary Anaplasmataceae infectious disease' http://purl.obolibrary.org/obo/MONDO_0001335 hypotrichosis of eyelid 'hypotrichosis of eyelid' SubClassOf 'hypotrichosis' 'hypotrichosis of eyelid' SubClassOf 'hypotrichosis' http://purl.obolibrary.org/obo/MONDO_0001334 hypertrichosis of eyelid 'hypertrichosis of eyelid' SubClassOf 'hypertrichosis' 'hypertrichosis of eyelid' SubClassOf 'hypertrichosis' http://www.ebi.ac.uk/efo/EFO_0006315 thiopurine immunosuppressant-induced pancreatitis 'thiopurine immunosuppressant-induced pancreatitis' SubClassOf 'pancreatitis' 'thiopurine immunosuppressant-induced pancreatitis' SubClassOf 'pancreatitis' http://www.ebi.ac.uk/efo/EFO_0006313 chemotherapy-induced oral mucositis 'chemotherapy-induced oral mucositis' SubClassOf 'stomatitis' 'chemotherapy-induced oral mucositis' SubClassOf 'stomatitis' http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma 'breast ductal adenocarcinoma' SubClassOf 'breast adenocarcinoma' 'breast ductal adenocarcinoma' SubClassOf 'breast adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0015974 severe combined immunodeficiency 'severe combined immunodeficiency' SubClassOf 'combined immunodeficiency' 'severe combined immunodeficiency' DisjointWith 'non-SCID combined immunodeficiency' 'severe combined immunodeficiency' SubClassOf 'combined immunodeficiency' 'severe combined immunodeficiency' DisjointWith 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015978 functional neutrophil defect 'functional neutrophil defect' SubClassOf 'leukocyte disorder' 'functional neutrophil defect' SubClassOf 'leukocyte disorder' http://purl.obolibrary.org/obo/MONDO_0015977 agammaglobulinemia 'agammaglobulinemia' SubClassOf 'B cell deficiency' 'agammaglobulinemia' SubClassOf 'B cell deficiency' http://purl.obolibrary.org/obo/MONDO_0001343 impaired renal function disease 'impaired renal function disease' SubClassOf 'kidney disease' 'impaired renal function disease' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0001342 dysgammaglobulinemia 'dysgammaglobulinemia' SubClassOf 'selective immunoglobulin deficiency disease' 'dysgammaglobulinemia' SubClassOf 'selective immunoglobulin deficiency disease' http://purl.obolibrary.org/obo/MONDO_0001347 facioscapulohumeral muscular dystrophy 'facioscapulohumeral muscular dystrophy' SubClassOf 'telomere syndrome' 'facioscapulohumeral muscular dystrophy' SubClassOf 'progressive muscular dystrophy' 'facioscapulohumeral muscular dystrophy' SubClassOf 'telomere syndrome' 'facioscapulohumeral muscular dystrophy' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0001340 heart cancer 'heart cancer' SubClassOf 'cardiovascular cancer' 'heart cancer' SubClassOf 'Heart neoplasm' 'heart cancer' SubClassOf 'cardiovascular cancer' 'heart cancer' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0015985 bone dysplasia, Azouz type 'bone dysplasia, Azouz type' SubClassOf 'skeletal dysplasia' 'bone dysplasia, Azouz type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney 'multicystic dysplastic kidney' SubClassOf 'disorder of development or morphogenesis' 'multicystic dysplastic kidney' SubClassOf 'Cystic Kidney Disease' 'multicystic dysplastic kidney' SubClassOf 'disorder of development or morphogenesis' 'multicystic dysplastic kidney' SubClassOf 'Cystic Kidney Disease' http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis 'bilateral renal agenesis' SubClassOf 'renal agenesis' 'bilateral renal agenesis' SubClassOf 'renal agenesis' http://purl.obolibrary.org/obo/MONDO_0001355 ocular siderosis 'ocular siderosis' SubClassOf 'eye disease' 'ocular siderosis' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0001357 hypochromic anemia 'hypochromic anemia' SubClassOf 'anemia' 'hypochromic anemia' SubClassOf 'anemia' http://www.ebi.ac.uk/efo/EFO_0006338 pit and fissure surface dental caries 'pit and fissure surface dental caries' SubClassOf 'dental caries' 'pit and fissure surface dental caries' SubClassOf 'dental caries' http://purl.obolibrary.org/obo/MONDO_0001351 uterine adnexa cancer 'uterine adnexa cancer' SubClassOf 'uterine cancer' 'uterine adnexa cancer' SubClassOf 'uterine cancer' http://www.ebi.ac.uk/efo/EFO_0006339 smooth surface dental caries 'smooth surface dental caries' SubClassOf 'dental caries' 'smooth surface dental caries' SubClassOf 'dental caries' http://purl.obolibrary.org/obo/MONDO_0015995 melorheostosis with osteopoikilosis 'melorheostosis with osteopoikilosis' SubClassOf 'skeletal dysplasia' 'melorheostosis with osteopoikilosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015994 muscular dystrophy-white matter spongiosis syndrome 'muscular dystrophy-white matter spongiosis syndrome' SubClassOf 'skeletal muscle disorder' 'muscular dystrophy-white matter spongiosis syndrome' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0015999 primary pigmented nodular adrenocortical disease 'primary pigmented nodular adrenocortical disease' SubClassOf 'adrenal gland disease' 'primary pigmented nodular adrenocortical disease' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis 'isolated ectopia lentis' SubClassOf 'lens disease' 'isolated ectopia lentis' SubClassOf 'lens disease' http://purl.obolibrary.org/obo/MONDO_0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome 'ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf 'inherited retinal dystrophy' 'ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0015991 citrullinemia 'citrullinemia' SubClassOf 'urea cycle disorder' 'citrullinemia' SubClassOf 'urea cycle disorder' http://purl.obolibrary.org/obo/MONDO_0015990 focal, segmental or multifocal dystonia 'focal, segmental or multifocal dystonia' SubClassOf 'isolated dystonia' 'focal, segmental or multifocal dystonia' SubClassOf 'isolated dystonia' http://purl.obolibrary.org/obo/MONDO_0001369 chronic laryngitis 'chronic laryngitis' SubClassOf 'laryngitis' 'chronic laryngitis' SubClassOf 'laryngitis' http://purl.obolibrary.org/obo/MONDO_0001134 essential hypertension 'essential hypertension' SubClassOf 'hypertension' 'essential hypertension' SubClassOf 'hypertension' http://purl.obolibrary.org/obo/MONDO_0001130 nasal cavity lymphoma 'nasal cavity lymphoma' SubClassOf 'lymphoma' 'nasal cavity lymphoma' SubClassOf 'nasal cavity cancer' 'nasal cavity lymphoma' SubClassOf 'lymphoma' 'nasal cavity lymphoma' SubClassOf 'nasal cavity cancer' http://purl.obolibrary.org/obo/MONDO_0015776 rhizomelic chondrodysplasia punctata 'rhizomelic chondrodysplasia punctata' SubClassOf 'disorder of plasmalogens biosynthesis' 'rhizomelic chondrodysplasia punctata' SubClassOf 'chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata' SubClassOf 'disorder of plasmalogens biosynthesis' 'rhizomelic chondrodysplasia punctata' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0015775 non-rhizomelic chondrodysplasia punctata 'non-rhizomelic chondrodysplasia punctata' SubClassOf 'chondrodysplasia punctata' 'non-rhizomelic chondrodysplasia punctata' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0015774 thoraco-abdominal enteric duplication 'thoraco-abdominal enteric duplication' SubClassOf 'syndromic disease' 'thoraco-abdominal enteric duplication' SubClassOf 'digestive system disease' 'thoraco-abdominal enteric duplication' SubClassOf 'syndromic disease' 'thoraco-abdominal enteric duplication' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0015773 fibular dimelia-diplopodia syndrome 'fibular dimelia-diplopodia syndrome' SubClassOf 'congenital limb malformation' 'fibular dimelia-diplopodia syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0015779 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'sex chromosome disorder of sex development' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'gonadal dysgenesis' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'sex chromosome disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0015772 trisomy 8q 'trisomy 8q' SubClassOf 'partial duplication of the long arm of chromosome 8' 'trisomy 8q' SubClassOf 'partial duplication of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism 'congenital hypogonadotropic hypogonadism' SubClassOf 'non-acquired pituitary hormone deficiency' 'congenital hypogonadotropic hypogonadism' SubClassOf 'hypogonadotropic hypogonadism' 'congenital hypogonadotropic hypogonadism' SubClassOf 'non-acquired pituitary hormone deficiency' 'congenital hypogonadotropic hypogonadism' SubClassOf 'hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0001149 microcephaly 'microcephaly' SubClassOf 'Neurodevelopmental disorder' 'microcephaly' SubClassOf 'disorder of development or morphogenesis' 'microcephaly' SubClassOf 'Neurodevelopmental disorder' 'microcephaly' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0001147 meningocele 'meningocele' SubClassOf 'congenital nervous system disorder' 'meningocele' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015787 symptomatic form of hemophilia A in female carriers 'symptomatic form of hemophilia A in female carriers' SubClassOf 'hemophilia A' 'symptomatic form of hemophilia A in female carriers' SubClassOf 'hemophilia A' http://purl.obolibrary.org/obo/MONDO_0015786 Prader-Willi syndrome due to imprinting mutation 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to imprinting mutation' SubClassOf 'Prader-Willi syndrome' http://purl.obolibrary.org/obo/MONDO_0015785 Prader-Willi syndrome due to translocation 'Prader-Willi syndrome due to translocation' SubClassOf 'Prader-Willi syndrome' 'Prader-Willi syndrome due to translocation' SubClassOf 'Prader-Willi syndrome' http://purl.obolibrary.org/obo/MONDO_0015784 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' http://purl.obolibrary.org/obo/MONDO_0015788 symptomatic form of hemophilia B in female carriers 'symptomatic form of hemophilia B in female carriers' SubClassOf 'hemophilia B' 'symptomatic form of hemophilia B in female carriers' SubClassOf 'hemophilia B' http://purl.obolibrary.org/obo/MONDO_0015783 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' 'Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1' SubClassOf 'Prader-Willi syndrome due to paternal 15q11q13 deletion' http://purl.obolibrary.org/obo/MONDO_0015782 dysmorphism-cleft palate-loose skin syndrome 'dysmorphism-cleft palate-loose skin syndrome' SubClassOf 'genetic disorder' 'dysmorphism-cleft palate-loose skin syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome 'facial dysmorphism-shawl scrotum-joint laxity syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'facial dysmorphism-shawl scrotum-joint laxity syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015780 dyskeratosis congenita 'dyskeratosis congenita' SubClassOf 'ectodermal dysplasia syndrome' 'dyskeratosis congenita' SubClassOf 'hereditary neoplastic syndrome' 'dyskeratosis congenita' SubClassOf 'ectodermal dysplasia syndrome' 'dyskeratosis congenita' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0001157 dependent personality disorder 'dependent personality disorder' SubClassOf 'personality disorder' 'dependent personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0001152 amnestic disorder 'amnestic disorder' SubClassOf 'cognitive disorder' 'amnestic disorder' SubClassOf 'cognitive disorder' http://purl.obolibrary.org/obo/MONDO_0015798 inflammatory myofibroblastic tumor 'inflammatory myofibroblastic tumor' SubClassOf 'Soft Tissue Neoplasm' 'inflammatory myofibroblastic tumor' SubClassOf 'Soft Tissue Neoplasm' http://purl.obolibrary.org/obo/MONDO_0015797 UV-sensitive syndrome 'UV-sensitive syndrome' SubClassOf 'hereditary photodermatosis' 'UV-sensitive syndrome' SubClassOf 'autosomal recessive disease' 'UV-sensitive syndrome' SubClassOf 'hereditary photodermatosis' 'UV-sensitive syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0015799 Smith-McCort dysplasia 'Smith-McCort dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' 'Smith-McCort dysplasia' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015794 antenatal multiminicore disease with arthrogryposis multiplex congenita 'antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'multiminicore myopathy' 'antenatal multiminicore disease with arthrogryposis multiplex congenita' SubClassOf 'multiminicore myopathy' http://purl.obolibrary.org/obo/MONDO_0015793 moderate multiminicore disease with hand involvement 'moderate multiminicore disease with hand involvement' SubClassOf 'multiminicore myopathy' 'moderate multiminicore disease with hand involvement' SubClassOf 'multiminicore myopathy' http://purl.obolibrary.org/obo/MONDO_0015792 transient congenital hypothyroidism 'transient congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' 'transient congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0015791 peripheral precocious puberty 'peripheral precocious puberty' SubClassOf 'precocious puberty' 'peripheral precocious puberty' SubClassOf 'precocious puberty' http://purl.obolibrary.org/obo/MONDO_0001165 tongue disorder 'tongue disorder' SubClassOf 'mouth disease' 'tongue disorder' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0001169 spastic monoplegia 'spastic monoplegia' SubClassOf 'spastic cerebral palsy' 'spastic monoplegia' SubClassOf 'spastic cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0001160 dissociative disorder 'dissociative disorder' SubClassOf 'psychiatric disorder' 'dissociative disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0001163 paranoid personality disorder 'paranoid personality disorder' SubClassOf 'personality disorder' 'paranoid personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0001162 impulse control disorder 'impulse control disorder' SubClassOf 'psychiatric disorder' 'impulse control disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0001161 schizoid personality disorder 'schizoid personality disorder' SubClassOf 'personality disorder' 'schizoid personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0040732 Pseudomonas aeruginosa infectious disease 'Pseudomonas aeruginosa infectious disease' SubClassOf 'Pseudomonas infection' 'Pseudomonas aeruginosa infectious disease' SubClassOf 'Pseudomonas infection' http://purl.obolibrary.org/obo/MONDO_0001171 acute salpingo-oophoritis 'acute salpingo-oophoritis' SubClassOf 'salpingo-oophoritis' 'acute salpingo-oophoritis' SubClassOf 'acute salpingitis' 'acute salpingo-oophoritis' SubClassOf 'salpingo-oophoritis' 'acute salpingo-oophoritis' SubClassOf 'acute salpingitis' http://purl.obolibrary.org/obo/MONDO_0001174 conjunctival vascular disorder 'conjunctival vascular disorder' SubClassOf 'Conjunctival Disorder' 'conjunctival vascular disorder' SubClassOf 'Conjunctival Disorder' http://purl.obolibrary.org/obo/MONDO_0001173 acute salpingitis 'acute salpingitis' SubClassOf 'salpingitis' 'acute salpingitis' SubClassOf 'salpingitis' http://purl.obolibrary.org/obo/MONDO_0001172 salpingo-oophoritis 'salpingo-oophoritis' SubClassOf 'oophoritis' 'salpingo-oophoritis' SubClassOf 'salpingitis' 'salpingo-oophoritis' SubClassOf 'oophoritis' 'salpingo-oophoritis' SubClassOf 'salpingitis' http://purl.obolibrary.org/obo/MONDO_0001188 esophagus lymphoma 'esophagus lymphoma' SubClassOf 'gastrointestinal lymphoma' 'esophagus lymphoma' SubClassOf 'esophageal cancer' 'esophagus lymphoma' SubClassOf 'gastrointestinal lymphoma' 'esophagus lymphoma' SubClassOf 'esophageal cancer' http://purl.obolibrary.org/obo/MONDO_0001187 urinary bladder cancer 'urinary bladder cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'urinary bladder cancer' SubClassOf 'bladder tumor' 'urinary bladder cancer' SubClassOf 'Malignant Urinary System Neoplasm' 'urinary bladder cancer' SubClassOf 'bladder tumor' http://purl.obolibrary.org/obo/MONDO_0001182 idiopathic corneal edema 'idiopathic corneal edema' SubClassOf 'corneal edema' 'idiopathic corneal edema' SubClassOf 'corneal edema' http://purl.obolibrary.org/obo/MONDO_0001185 dissociative amnesia 'dissociative amnesia' SubClassOf 'dissociative disorder' 'dissociative amnesia' SubClassOf 'dissociative disorder' http://purl.obolibrary.org/obo/MONDO_0001197 qualitative platelet defect 'qualitative platelet defect' SubClassOf 'blood platelet disease' 'qualitative platelet defect' SubClassOf 'blood platelet disease' http://purl.obolibrary.org/obo/MONDO_0025193 oculopharyngodistal myopathy 'oculopharyngodistal myopathy' SubClassOf 'progressive muscular dystrophy' 'oculopharyngodistal myopathy' SubClassOf 'distal myopathy' 'oculopharyngodistal myopathy' SubClassOf 'progressive muscular dystrophy' 'oculopharyngodistal myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0015806 adult intestinal botulism 'adult intestinal botulism' SubClassOf 'intestinal botulism' 'adult intestinal botulism' SubClassOf 'intestinal botulism' http://purl.obolibrary.org/obo/MONDO_0015805 intestinal botulism 'intestinal botulism' SubClassOf 'toxin-mediated infectious botulism' 'intestinal botulism' SubClassOf 'toxin-mediated infectious botulism' http://purl.obolibrary.org/obo/MONDO_0015804 infant botulism 'infant botulism' SubClassOf 'intestinal botulism' 'infant botulism' SubClassOf 'intestinal botulism' http://purl.obolibrary.org/obo/MONDO_0015802 autosomal dominant non-syndromic intellectual disability 'autosomal dominant non-syndromic intellectual disability' SubClassOf 'non-syndromic intellectual disability' 'autosomal dominant non-syndromic intellectual disability' SubClassOf 'non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 'hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'hemorrhagic disease' 'hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'coagulation protein disease' 'hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'hemorrhagic disease' 'hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation' SubClassOf 'coagulation protein disease' http://purl.obolibrary.org/obo/MONDO_0015800 osteosclerosis-developmental delay-craniosynostosis syndrome 'osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'syndromic craniosynostosis' 'osteosclerosis-developmental delay-craniosynostosis syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0015816 indolent primary cutaneous T-cell lymphoma 'indolent primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous T-cell lymphoma' 'indolent primary cutaneous T-cell lymphoma' SubClassOf 'primary cutaneous T-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0015819 indolent primary cutaneous B-cell lymphoma 'indolent primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous B-cell lymphoma' 'indolent primary cutaneous B-cell lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' 'indolent primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous B-cell lymphoma' 'indolent primary cutaneous B-cell lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0015813 primary cutaneous marginal zone B-cell lymphoma 'primary cutaneous marginal zone B-cell lymphoma' SubClassOf 'indolent primary cutaneous B-cell lymphoma' 'primary cutaneous marginal zone B-cell lymphoma' SubClassOf 'indolent primary cutaneous B-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0015826 autosomal dominant spondylocostal dysostosis 'autosomal dominant spondylocostal dysostosis' SubClassOf 'autosomal dominant disease' 'autosomal dominant spondylocostal dysostosis' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0015820 primary cutaneous B-cell lymphoma 'primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous lymphoma' 'primary cutaneous B-cell lymphoma' SubClassOf 'primary cutaneous lymphoma' http://purl.obolibrary.org/obo/MONDO_0015824 oculomaxillofacial dysostosis 'oculomaxillofacial dysostosis' SubClassOf 'dysostosis' 'oculomaxillofacial dysostosis' SubClassOf 'disorder of facial skeleton' 'oculomaxillofacial dysostosis' SubClassOf 'genetic disorder' 'oculomaxillofacial dysostosis' SubClassOf 'syndromic disease' 'oculomaxillofacial dysostosis' SubClassOf 'dysostosis' 'oculomaxillofacial dysostosis' SubClassOf 'disorder of facial skeleton' 'oculomaxillofacial dysostosis' SubClassOf 'genetic disorder' 'oculomaxillofacial dysostosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015821 mycosis fungoides and variants 'mycosis fungoides and variants' SubClassOf 'indolent primary cutaneous T-cell lymphoma' 'mycosis fungoides and variants' SubClassOf 'indolent primary cutaneous T-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0015831 unilateral aplasia of the mullerian ducts 'unilateral aplasia of the mullerian ducts' SubClassOf 'mullerian aplasia' 'unilateral aplasia of the mullerian ducts' SubClassOf 'mullerian aplasia' http://purl.obolibrary.org/obo/MONDO_0015830 partial bilateral aplasia of the mullerian ducts 'partial bilateral aplasia of the mullerian ducts' SubClassOf 'mullerian aplasia' 'partial bilateral aplasia of the mullerian ducts' SubClassOf 'mullerian aplasia' http://purl.obolibrary.org/obo/MONDO_0015833 pseudounicornuate uterus 'pseudounicornuate uterus' SubClassOf 'unilateral aplasia of the mullerian ducts' 'pseudounicornuate uterus' SubClassOf 'unilateral aplasia of the mullerian ducts' http://purl.obolibrary.org/obo/MONDO_0015832 true unicornuate uterus 'true unicornuate uterus' SubClassOf 'unilateral aplasia of the mullerian ducts' 'true unicornuate uterus' SubClassOf 'unilateral aplasia of the mullerian ducts' http://purl.obolibrary.org/obo/MONDO_0001204 esophagus sarcoma 'esophagus sarcoma' SubClassOf 'soft tissue sarcoma' 'esophagus sarcoma' SubClassOf 'esophageal cancer' 'esophagus sarcoma' SubClassOf 'soft tissue sarcoma' 'esophagus sarcoma' SubClassOf 'esophageal cancer' http://purl.obolibrary.org/obo/MONDO_0015842 bicornuate uterus 'bicornuate uterus' SubClassOf 'disorder of development or morphogenesis' 'bicornuate uterus' SubClassOf 'uterine disorder' 'bicornuate uterus' SubClassOf 'disorder of development or morphogenesis' 'bicornuate uterus' SubClassOf 'uterine disorder' http://purl.obolibrary.org/obo/MONDO_0015843 uterine hypoplasia 'uterine hypoplasia' SubClassOf 'uterine disorder' 'uterine hypoplasia' SubClassOf 'disorder of development or morphogenesis' 'uterine hypoplasia' SubClassOf 'uterine disorder' 'uterine hypoplasia' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0001208 acute respiratory failure 'acute respiratory failure' SubClassOf 'respiratory failure' 'acute respiratory failure' SubClassOf 'respiratory failure' http://purl.obolibrary.org/obo/MONDO_0001212 non-suppurative otitis media 'non-suppurative otitis media' SubClassOf 'Otitis media' 'non-suppurative otitis media' SubClassOf 'Otitis media' http://purl.obolibrary.org/obo/MONDO_0001214 acute conjunctivitis 'acute conjunctivitis' SubClassOf 'conjunctivitis' 'acute conjunctivitis' SubClassOf 'conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0015856 syndromic breast hypoplasia/aplasia 'syndromic breast hypoplasia/aplasia' SubClassOf 'breast disease' 'syndromic breast hypoplasia/aplasia' SubClassOf 'breast disease' http://purl.obolibrary.org/obo/MONDO_0015855 isolated congenital breast hypoplasia/aplasia 'isolated congenital breast hypoplasia/aplasia' SubClassOf 'breast disease' 'isolated congenital breast hypoplasia/aplasia' SubClassOf 'breast disease' http://purl.obolibrary.org/obo/MONDO_0001222 congenital T-cell immunodeficiency 'congenital T-cell immunodeficiency' SubClassOf 'T-cell immunodeficiency' 'congenital T-cell immunodeficiency' SubClassOf 'T-cell immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015864 mixed germ cell tumor 'mixed germ cell tumor' SubClassOf 'Malignant Germ Cell Tumor' 'mixed germ cell tumor' SubClassOf 'Malignant Germ Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0015867 vaginal carcinoma 'vaginal carcinoma' SubClassOf 'vaginal cancer' 'vaginal carcinoma' SubClassOf 'carcinoma' 'vaginal carcinoma' SubClassOf 'vaginal cancer' 'vaginal carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0001229 small intestine diverticulitis 'small intestine diverticulitis' SubClassOf 'diverticulitis' 'small intestine diverticulitis' SubClassOf 'diverticulitis' http://purl.obolibrary.org/obo/MONDO_0001237 appendix lymphoma 'appendix lymphoma' SubClassOf 'appendix cancer' 'appendix lymphoma' SubClassOf 'appendix cancer' http://purl.obolibrary.org/obo/MONDO_0001235 appendix cancer 'appendix cancer' SubClassOf 'appendiceal neoplasm' 'appendix cancer' SubClassOf 'appendiceal neoplasm' http://purl.obolibrary.org/obo/MONDO_0001230 acute orbital inflammation 'acute orbital inflammation' SubClassOf 'disease of orbital part of eye adnexa' 'acute orbital inflammation' SubClassOf 'disease of orbital part of eye adnexa' http://purl.obolibrary.org/obo/MONDO_0015871 benign breast phyllodes tumor 'benign breast phyllodes tumor' SubClassOf 'breast benign neoplasm' 'benign breast phyllodes tumor' SubClassOf 'breast phyllodes tumor' 'benign breast phyllodes tumor' SubClassOf 'benign phyllodes tumor' 'benign breast phyllodes tumor' SubClassOf 'breast benign neoplasm' 'benign breast phyllodes tumor' SubClassOf 'breast phyllodes tumor' 'benign breast phyllodes tumor' SubClassOf 'benign phyllodes tumor' http://purl.obolibrary.org/obo/MONDO_0001245 microcytic anemia 'microcytic anemia' SubClassOf 'anemia' 'microcytic anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0001240 neonatal anemia 'neonatal anemia' SubClassOf 'anemia' 'neonatal anemia' SubClassOf 'anemia' http://purl.obolibrary.org/obo/MONDO_0015884 autosomal dominant hypohidrotic ectodermal dysplasia 'autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' 'autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015883 hidrotic ectodermal dysplasia, Halal type 'hidrotic ectodermal dysplasia, Halal type' SubClassOf 'ectodermal dysplasia syndrome' 'hidrotic ectodermal dysplasia, Halal type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0800452 congenital amegakaryocytic thrombocytopenia 1 'congenital amegakaryocytic thrombocytopenia 1' SubClassOf 'congenital hematological disorder' 'congenital amegakaryocytic thrombocytopenia 1' SubClassOf 'congenital amegakaryocytic thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0800451 congenital amegakaryocytic thrombocytopenia 'congenital amegakaryocytic thrombocytopenia' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0800445 Birt-Hogg-Dube syndrome 1 'Birt-Hogg-Dube syndrome 1' SubClassOf 'Birt-Hogg-Dube syndrome' http://purl.obolibrary.org/obo/HP_0000055 Abnormal female external genitalia morphology 'Abnormal female external genitalia morphology' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/MONDO_0031043 lymphatic malformation 12 'lymphatic malformation 12' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0100488 CDH1-related diffuse gastric and lobular breast cancer syndrome 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'hereditary neoplastic syndrome' 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'hereditary gastric cancer' 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'lobular breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0100503 DPH5-related diphthamide-deficiency syndrome 'DPH5-related diphthamide-deficiency syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100233 long COVID-19 'long COVID-19' SubClassOf 'post-COVID-19 disorder' http://purl.obolibrary.org/obo/MONDO_0957400 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 'cataracts, hearing impairment, nephrotic syndrome, and enterocolitis' SubClassOf 'genetic disorder' 'cataracts, hearing impairment, nephrotic syndrome, and enterocolitis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0957595 Ziegler-Huang syndrome 'Ziegler-Huang syndrome' SubClassOf 'bone marrow failure syndrome' http://purl.obolibrary.org/obo/MONDO_0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development 'parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development' SubClassOf 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0957530 breast-ovarian cancer, familial, susceptibility to, 5 'breast-ovarian cancer, familial, susceptibility to, 5' SubClassOf 'breast-ovarian cancer, familial, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0859188 neurodevelopmental disorder with seizures and brain abnormalities 'neurodevelopmental disorder with seizures and brain abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0957254 mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0957220 oocyte/zygote/embryo maturation arrest 17 'oocyte/zygote/embryo maturation arrest 17' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0957221 spastic paraplegia 70, autosomal recessive 'spastic paraplegia 70, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0957208 pituitary hormone deficiency, combined or isolated, 8 'pituitary hormone deficiency, combined or isolated, 8' SubClassOf 'combined pituitary hormone deficiencies, genetic form' http://purl.obolibrary.org/obo/MONDO_0007925 myelodysplastic syndrome associated with isolated del(5q) 'myelodysplastic syndrome associated with isolated del(5q)' SubClassOf 'partial deletion of the long arm of chromosome 5' 'myelodysplastic syndrome associated with isolated del(5q)' SubClassOf 'macrocytic anemia' 'myelodysplastic syndrome associated with isolated del(5q)' SubClassOf 'myelodysplastic syndrome' http://purl.obolibrary.org/obo/HP_0011021 Abnormal circulating enzyme concentration 'Abnormal circulating enzyme concentration' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0013031 chromosome 5Q14.3 deletion syndrome, distal 'chromosome 5Q14.3 deletion syndrome, distal' SubClassOf 'periventricular nodular heterotopia' http://purl.obolibrary.org/obo/MONDO_0013100 atrial fibrillation, familial, 8 'atrial fibrillation, familial, 8' SubClassOf 'familial atrial fibrillation' http://purl.obolibrary.org/obo/HP_0045040 Abnormal circulating lactate dehydrogenase concentration 'Abnormal circulating lactate dehydrogenase concentration' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0957953 Garg-Mishra progeroid syndrome 'Garg-Mishra progeroid syndrome' SubClassOf 'progeria' http://purl.obolibrary.org/obo/MONDO_0957955 immunodeficiency 114, folate-responsive 'immunodeficiency 114, folate-responsive' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0957960 Long-Olsen-Distelmaier syndrome 'Long-Olsen-Distelmaier syndrome' SubClassOf 'syndromic disease' 'Long-Olsen-Distelmaier syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957919 Lui-Jee-Baron syndrome 'Lui-Jee-Baron syndrome' SubClassOf 'syndromic disease' 'Lui-Jee-Baron syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859573 bent bone dysplasia syndrome 2 'bent bone dysplasia syndrome 2' SubClassOf 'familial bent bone dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0957997 diabetes, deafness, developmental delay, and short stature syndrome 'diabetes, deafness, developmental delay, and short stature syndrome' SubClassOf 'syndromic disease' 'diabetes, deafness, developmental delay, and short stature syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957999 intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly 'intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0957990 Tan-Almurshedi syndrome 'Tan-Almurshedi syndrome' SubClassOf 'genetic disorder' 'Tan-Almurshedi syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0957985 neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 'neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859282 neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures 'neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859283 neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities 'neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859280 developmental delay, hypotonia, and impaired language 'developmental delay, hypotonia, and impaired language' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859267 tumor predisposition syndrome 2 'tumor predisposition syndrome 2' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0859265 neurodevelopmental disorder with epilepsy and brain atrophy 'neurodevelopmental disorder with epilepsy and brain atrophy' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859261 attention deficit-hyperactivity disorder 8 'attention deficit-hyperactivity disorder 8' SubClassOf 'attention deficit hyperactivity disorder' http://purl.obolibrary.org/obo/MONDO_0859250 neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures 'neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859222 heterotaxy, visceral, 12, autosomal 'heterotaxy, visceral, 12, autosomal' SubClassOf 'visceral heterotaxy' http://purl.obolibrary.org/obo/MONDO_0957832 craniometadiaphyseal osteosclerosis with hip dysplasia 'craniometadiaphyseal osteosclerosis with hip dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957820 congenital disorder of glycosylation, type IIbb 'congenital disorder of glycosylation, type IIbb' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities 'neurodevelopmental disorder with poor growth and behavioral abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0957807 hyper-IgE syndrome 6, autosomal dominant, with recurrent infections 'hyper-IgE syndrome 6, autosomal dominant, with recurrent infections' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0957790 immune dysregulation, autoimmunity, and autoinflammation 'immune dysregulation, autoimmunity, and autoinflammation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0957791 neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction 'neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0957783 ichthyosis with erythrokeratoderma 'ichthyosis with erythrokeratoderma' SubClassOf 'inherited ichthyosis' http://purl.obolibrary.org/obo/MONDO_0957786 xerosis and growth failure with immune and pulmonary dysfunction syndrome 'xerosis and growth failure with immune and pulmonary dysfunction syndrome' SubClassOf 'genetic disorder' 'xerosis and growth failure with immune and pulmonary dysfunction syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0957779 neurodevelopmental disorder with language delay and variable cognitive abnormalities 'neurodevelopmental disorder with language delay and variable cognitive abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/HP_0002006 Tessier cleft 'Tessier cleft' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/MONDO_0958178 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 'cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1' SubClassOf 'cataracts, hearing impairment, nephrotic syndrome, and enterocolitis' http://purl.obolibrary.org/obo/MONDO_0958191 nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis 'nephrolithiasis, calcium oxalate, 2, with or without nephrocalcinosis' SubClassOf 'nephrolithiasis, calcium oxalate' http://purl.obolibrary.org/obo/MONDO_0958193 cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 'cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2' SubClassOf 'cataracts, hearing impairment, nephrotic syndrome, and enterocolitis' http://purl.obolibrary.org/obo/MONDO_0958197 Leber-like hereditary optic neuropathy, autosomal recessive 2 'Leber-like hereditary optic neuropathy, autosomal recessive 2' SubClassOf 'Leber hereditary optic neuropathy, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0958199 myoclonic epilepsy of Lafora 1 'myoclonic epilepsy of Lafora 1' SubClassOf 'Lafora disease' http://purl.obolibrary.org/obo/MONDO_0958182 C1Q deficiency 1 'C1Q deficiency 1' SubClassOf 'C1Q deficiency' http://purl.obolibrary.org/obo/MONDO_0958279 megalencephaly-polydactyly syndrome 'megalencephaly-polydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities 'neurodevelopmental disorder with hypotonia and characteristic brain abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0958241 cardiomyopathy, familial hypertrophic, 30, atrial 'cardiomyopathy, familial hypertrophic, 30, atrial' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0958235 Ullrich congenital muscular dystrophy 1B 'Ullrich congenital muscular dystrophy 1B' SubClassOf 'Ullrich congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0958234 Bethlem myopathy 1C 'Bethlem myopathy 1C' SubClassOf 'Bethlem myopathy' http://purl.obolibrary.org/obo/MONDO_0958236 Ullrich congenital muscular dystrophy 1C 'Ullrich congenital muscular dystrophy 1C' SubClassOf 'Ullrich congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0958238 hyperemesis gravidarum, susceptibility to 'hyperemesis gravidarum, susceptibility to' SubClassOf 'inherited disease susceptibility' 'hyperemesis gravidarum, susceptibility to' SubClassOf 'predisposes towards' some 'hyperemesis gravidarum' http://purl.obolibrary.org/obo/MONDO_0958205 Yuksel-Vogel-Bauer syndrome 'Yuksel-Vogel-Bauer syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0958231 neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism 'neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0958233 Bethlem myopathy 1B 'Bethlem myopathy 1B' SubClassOf 'Bethlem myopathy' http://purl.obolibrary.org/obo/MONDO_0958224 encephalopathy, porphyria-related 'encephalopathy, porphyria-related' SubClassOf 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0958226 leukoencephalopathy, porphyria-related 'leukoencephalopathy, porphyria-related' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0958227 polydactyly-macrocephaly syndrome 'polydactyly-macrocephaly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0958229 bleeding disorder, vascular-type 'bleeding disorder, vascular-type' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0958006 spondyloepimetaphyseal dysplasia, Guo-Campeau type 'spondyloepimetaphyseal dysplasia, Guo-Campeau type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0043106 ichthyosis linearis circumflexa 'ichthyosis linearis circumflexa' SubClassOf 'syndromic disease' 'ichthyosis linearis circumflexa' SubClassOf 'autosomal recessive disease' 'ichthyosis linearis circumflexa' SubClassOf 'inherited ichthyosis' http://www.ebi.ac.uk/efo/EFO_0022617 MM200 'MM200' SubClassOf 'derives_from' some 'Homo sapiens' 'MM200' SubClassOf 'melanoma cell line' 'MM200' SubClassOf 'derives_from' some 'skin of body' 'MM200' SubClassOf 'derives_from' some 'cell type' 'MM200' SubClassOf 'bearer_of' some 'melanoma' http://www.ebi.ac.uk/efo/EFO_0022616 BD-215 'BD-215' SubClassOf 'derives_from' some 'blood' 'BD-215' SubClassOf 'derives_from' some 'Homo sapiens' 'BD-215' SubClassOf 'cultured cell' 'BD-215' SubClassOf 'derives_from' some 'cell type' 'BD-215' SubClassOf 'bearer_of' some 'Fanconi anemia' http://www.ebi.ac.uk/efo/EFO_0022619 Rh-28 'Rh-28' SubClassOf 'bearer_of' some 'alveolar rhabdomyosarcoma' 'Rh-28' SubClassOf 'cultured cell' 'Rh-28' SubClassOf 'derives_from' some 'cell type' 'Rh-28' SubClassOf 'derives_from' some 'Homo sapiens' 'Rh-28' SubClassOf 'derives_from' some 'lymph node' http://www.ebi.ac.uk/efo/EFO_0022618 MGR3 'MGR3' SubClassOf 'derives_from' some 'Homo sapiens' 'MGR3' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'MGR3' SubClassOf 'derives_from' some 'cell type' 'MGR3' SubClassOf 'cultured cell' 'MGR3' SubClassOf 'derives_from' some 'brain' http://www.ebi.ac.uk/efo/EFO_0022613 gangrenous appendicits 'gangrenous appendicits' SubClassOf 'appendicitis' http://www.ebi.ac.uk/efo/EFO_0022612 complicated appendicitis 'complicated appendicitis' SubClassOf 'appendicitis' http://www.ebi.ac.uk/efo/EFO_0022615 10x Xenium '10x Xenium' SubClassOf 'spatial transcriptomics' http://www.ebi.ac.uk/efo/EFO_0022614 HCASMC-hTERT 'HCASMC-hTERT' SubClassOf 'smooth muscle cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022611 magnetic resonance imaging of the heart 'magnetic resonance imaging of the heart' SubClassOf 'heart function measurement' http://www.ebi.ac.uk/efo/EFO_0022610 myofibrillar myopathy, dominant 'myofibrillar myopathy, dominant' SubClassOf 'myofibrillar myopathy' http://www.ebi.ac.uk/efo/EFO_0022609 Parkinson disease, dominant 'Parkinson disease, dominant' SubClassOf 'Parkinson disease' http://www.ebi.ac.uk/efo/EFO_0022608 left-right axis malformations 'left-right axis malformations' SubClassOf 'genetic disorder' 'left-right axis malformations' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0022607 sulfate transporter-related osteochondrodysplasia 'sulfate transporter-related osteochondrodysplasia' SubClassOf 'osteochondrodysplasia' http://www.ebi.ac.uk/efo/EFO_0022639 MO3.13 'MO3.13' SubClassOf 'derives_from' some 'oligodendrocyte' 'MO3.13' SubClassOf 'derives_from' some 'cell type' 'MO3.13' SubClassOf 'cultured cell' 'MO3.13' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022638 SK-UT-2 'SK-UT-2 ' SubClassOf 'derives_from' some 'Homo sapiens' 'SK-UT-2 ' SubClassOf 'derives_from' some 'endometrium' 'SK-UT-2 ' SubClassOf 'bearer_of' some 'endometrial carcinoma' 'SK-UT-2 ' SubClassOf 'cultured cell' 'SK-UT-2 ' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022635 PRIESS 'PRIESS' SubClassOf 'derives_from' some 'Homo sapiens' 'PRIESS' SubClassOf 'lymphoblastoid cell line' 'PRIESS' SubClassOf 'derives_from' some 'cell type' 'PRIESS' SubClassOf 'derives_from' some 'blood' http://www.ebi.ac.uk/efo/EFO_0022634 H157 'H157' SubClassOf 'derives_from' some 'cell type' 'H157' SubClassOf 'derives_from' some 'Homo sapiens' 'H157' SubClassOf 'derives_from' some 'oral cavity' 'H157' SubClassOf 'cancer cell line' 'H157' SubClassOf 'bearer_of' some 'oral squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0022637 T47D:A18 'T47D:A18' SubClassOf 'derives_from' some 'pleural effusion' 'T47D:A18' SubClassOf 'cultured cell' 'T47D:A18' SubClassOf 'bearer_of' some 'Invasive Breast Carcinoma' 'T47D:A18' SubClassOf 'derives_from' some 'Homo sapiens' 'T47D:A18' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022636 FET 'FET' SubClassOf 'derives_from' some 'colon' 'FET' SubClassOf 'derives_from' some 'Homo sapiens' 'FET' SubClassOf 'derives_from' some 'cell type' 'FET' SubClassOf 'bearer_of' some 'colorectal cancer' 'FET' SubClassOf 'colorectal cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022631 RCB1903 cell 'RCB1903 cell' SubClassOf 'derives_from' some 'Homo sapiens' 'RCB1903 cell' SubClassOf 'derives_from' some 'ascitic fluid' 'RCB1903 cell' SubClassOf 'bearer_of' some 'Ovarian Endometrioid Adenocarcinoma' 'RCB1903 cell' SubClassOf 'fibroblast derived cell line' 'RCB1903 cell' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022630 AC16 'AC16' SubClassOf 'cultured cell' 'AC16' SubClassOf 'derives_from' some 'cell type' 'AC16' SubClassOf 'derives_from' some 'Homo sapiens' 'AC16' SubClassOf 'derives_from' some 'cardiac muscle cell' http://www.ebi.ac.uk/efo/EFO_0022633 IHCF 'IHCF' SubClassOf 'derives_from' some 'cornea' 'IHCF' SubClassOf 'derives_from' some 'Homo sapiens' 'IHCF' SubClassOf 'cultured cell' 'IHCF' SubClassOf 'derives_from' some 'cell type' 'IHCF' SubClassOf 'derives_from' some 'fibroblast' http://www.ebi.ac.uk/efo/EFO_0022632 2BS '2BS' SubClassOf 'derives_from' some 'fibroblast of lung' '2BS' SubClassOf 'cultured cell' '2BS' SubClassOf 'derives_from' some 'Homo sapiens' '2BS' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022628 90C '90C' SubClassOf 'bearer_of' some 'Lung Giant Cell Carcinoma' '90C' SubClassOf 'derives_from' some 'Homo sapiens' '90C' SubClassOf 'derives_from' some 'pleural effusion' '90C' SubClassOf 'derives_from' some 'cell type' '90C' SubClassOf 'lung cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022627 U-178MG 'U-178MG' SubClassOf 'derives_from' some 'Homo sapiens' 'U-178MG' SubClassOf 'cultured cell' 'U-178MG' SubClassOf 'bearer_of' some 'astrocytoma' 'U-178MG' SubClassOf 'derives_from' some 'cell type' 'U-178MG' SubClassOf 'derives_from' some 'central nervous system' http://www.ebi.ac.uk/efo/EFO_0022629 TPC-1 'TPC-1 ' SubClassOf 'derives_from' some 'Homo sapiens' 'TPC-1 ' SubClassOf 'bearer_of' some 'papillary thyroid carcinoma' 'TPC-1 ' SubClassOf 'derives_from' some 'cell type' 'TPC-1 ' SubClassOf 'cancer cell line' 'TPC-1 ' SubClassOf 'derives_from' some 'thyroid gland' http://www.ebi.ac.uk/efo/EFO_0022624 HuT 102 cell 'HuT 102 cell' SubClassOf 'derives_from' some 'Homo sapiens' 'HuT 102 cell' SubClassOf 'derives_from' some 'blood' 'HuT 102 cell' SubClassOf 'bearer_of' some 'lymphoma' 'HuT 102 cell' SubClassOf 'bearer_of' some 'mycosis fungoides' 'HuT 102 cell' SubClassOf 'derives_from' some 'cell type' 'HuT 102 cell' SubClassOf 'immortal cell line cell' http://www.ebi.ac.uk/efo/EFO_0022623 SOSP-9607 'SOSP-9607' SubClassOf 'derives_from' some 'cell type' 'SOSP-9607' SubClassOf 'osteosarcoma cell line' 'SOSP-9607' SubClassOf 'bearer_of' some 'osteosarcoma' 'SOSP-9607' SubClassOf 'derives_from' some 'bone tissue' 'SOSP-9607' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022626 C666 'C666' SubClassOf 'cultured cell' 'C666' SubClassOf 'bearer_of' some 'nasopharyngeal squamous cell carcinoma' 'C666' SubClassOf 'derives_from' some 'cell type' 'C666' SubClassOf 'derives_from' some 'Homo sapiens' 'C666' SubClassOf 'derives_from' some 'nasopharynx' http://www.ebi.ac.uk/efo/EFO_0022625 ST-1 'ST-1' SubClassOf 'derives_from' some 'blood' 'ST-1' SubClassOf 'cultured cell' 'ST-1' SubClassOf 'bearer_of' some 'adult T-cell leukemia/lymphoma' 'ST-1' SubClassOf 'derives_from' some 'cell type' 'ST-1' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022620 CFBE41o- 'CFBE41o-' SubClassOf 'bronchial epithelial cell derived cell line' 'CFBE41o-' SubClassOf 'derives_from' some 'Homo sapiens' 'CFBE41o-' SubClassOf 'derives_from' some 'bronchial epithelial cell' 'CFBE41o-' SubClassOf 'bearer_of' some 'cystic fibrosis' 'CFBE41o-' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022622 LCL 721.221 'LCL 721.221' SubClassOf 'lymphoblastoid cell line' 'LCL 721.221' SubClassOf 'derives_from' some 'Homo sapiens' 'LCL 721.221' SubClassOf 'derives_from' some 'cell type' 'LCL 721.221' SubClassOf 'derives_from' some 'blood' http://www.ebi.ac.uk/efo/EFO_0022621 OECM-1 'OECM-1' SubClassOf 'bearer_of' some 'oral squamous cell carcinoma' 'OECM-1' SubClassOf 'derives_from' some 'oral cavity' 'OECM-1' SubClassOf 'derives_from' some 'cell type' 'OECM-1' SubClassOf 'cancer cell line' 'OECM-1' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022657 HOM-2 'HOM-2' SubClassOf 'derives_from' some 'cell type' 'HOM-2' SubClassOf 'derives_from' some 'B cell' 'HOM-2' SubClassOf 'lymphoblastoid cell line' 'HOM-2' SubClassOf 'derives_from' some 'Homo sapiens' 'HOM-2' SubClassOf 'derives_from' some 'blood' http://www.ebi.ac.uk/efo/EFO_0022656 J.CaM1.6 'J.CaM1.6' SubClassOf 'derives_from' some 'blood' 'J.CaM1.6' SubClassOf 'derives_from' some 'T cell' 'J.CaM1.6' SubClassOf 'derives_from' some 'Homo sapiens' 'J.CaM1.6' SubClassOf 'Jurkat' 'J.CaM1.6' SubClassOf 'bearer_of' some 'T-cell acute lymphoblastic leukemia' 'J.CaM1.6' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022659 EoL-1 'EoL-1' SubClassOf 'lymphoma or leukaemia cell line' 'EoL-1' SubClassOf 'derives_from' some 'Homo sapiens' 'EoL-1' SubClassOf 'derives_from' some 'blood' 'EoL-1' SubClassOf 'bearer_of' some 'Chronic Eosinophilic Leukemia, Not Otherwise Specified' 'EoL-1' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022658 TE-1 'TE-1' SubClassOf 'derives_from' some 'Homo sapiens' 'TE-1' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'TE-1' SubClassOf 'cultured cell' 'TE-1' SubClassOf 'derives_from' some 'esophagus' 'TE-1' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022653 Hs-578Bst 'Hs-578Bst ' SubClassOf 'derives_from' some 'mammary gland epithelial cell' 'Hs-578Bst ' SubClassOf 'cultured cell' 'Hs-578Bst ' SubClassOf 'derives_from' some 'cell type' 'Hs-578Bst ' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022652 C3ABR 'C3ABR' SubClassOf 'lymphoblastoid cell line' 'C3ABR' SubClassOf 'derives_from' some 'Homo sapiens' 'C3ABR' SubClassOf 'derives_from' some 'cell type' 'C3ABR' SubClassOf 'derives_from' some 'blood' http://www.ebi.ac.uk/efo/EFO_0022655 MLS 402-91 'MLS 402-91' SubClassOf 'cultured cell' 'MLS 402-91' SubClassOf 'bearer_of' some 'myxoid liposarcoma' 'MLS 402-91' SubClassOf 'derives_from' some 'cell type' 'MLS 402-91' SubClassOf 'derives_from' some 'adipose tissue' 'MLS 402-91' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022654 MLS 2645-94 'MLS 2645-94' SubClassOf 'derives_from' some 'Homo sapiens' 'MLS 2645-94' SubClassOf 'derives_from' some 'cell type' 'MLS 2645-94' SubClassOf 'cultured cell' 'MLS 2645-94' SubClassOf 'derives_from' some 'adipose tissue' 'MLS 2645-94' SubClassOf 'bearer_of' some 'myxoid liposarcoma' http://www.ebi.ac.uk/efo/EFO_0022651 IHKE-1 'IHKE-1' SubClassOf 'cultured cell' 'IHKE-1' SubClassOf 'derives_from' some 'cell type' 'IHKE-1' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022650 UPCI-SCC-131 'UPCI-SCC-131' SubClassOf 'cultured cell' 'UPCI-SCC-131' SubClassOf 'derives_from' some 'oral cavity' 'UPCI-SCC-131' SubClassOf 'derives_from' some 'cell type' 'UPCI-SCC-131' SubClassOf 'bearer_of' some 'oral squamous cell carcinoma' 'UPCI-SCC-131' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022649 KHYG-1 'KHYG-1' SubClassOf 'derives_from' some 'Homo sapiens' 'KHYG-1' SubClassOf 'cultured cell' 'KHYG-1' SubClassOf 'bearer_of' some 'aggressive NK-cell leukemia' 'KHYG-1' SubClassOf 'derives_from' some 'cell type' 'KHYG-1' SubClassOf 'derives_from' some 'blood' http://www.ebi.ac.uk/efo/EFO_0022646 HER911 'HER911' SubClassOf 'derives_from' some 'cell type' 'HER911' SubClassOf 'cultured cell' 'HER911' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022645 CWR-R1 'CWR-R1' SubClassOf 'prostate cancer cell line' 'CWR-R1' SubClassOf 'derives_from' some 'prostate gland' 'CWR-R1' SubClassOf 'derives_from' some 'cell type' 'CWR-R1' SubClassOf 'derives_from' some 'Homo sapiens' 'CWR-R1' SubClassOf 'bearer_of' some 'prostate carcinoma' http://www.ebi.ac.uk/efo/EFO_0022648 253J-BV '253J-BV' SubClassOf 'derives_from' some 'cell type' '253J-BV' SubClassOf 'derives_from' some 'Homo sapiens' '253J-BV' SubClassOf 'bearer_of' some 'Transitional Cell Carcinoma' '253J-BV' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022647 C-28/I2 'C-28/I2' SubClassOf 'derives_from' some 'cell type' 'C-28/I2' SubClassOf 'cultured cell' 'C-28/I2' SubClassOf 'derives_from' some 'chondrocyte' 'C-28/I2' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022642 PLH 'PLH' SubClassOf 'lymphoblastoid cell line' 'PLH' SubClassOf 'derives_from' some 'Homo sapiens' 'PLH' SubClassOf 'derives_from' some 'blood' 'PLH' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022641 BM9 'BM9' SubClassOf 'derives_from' some 'Homo sapiens' 'BM9' SubClassOf 'lymphoblastoid cell line' 'BM9' SubClassOf 'derives_from' some 'blood' 'BM9' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022644 PH5CH8 'PH5CH8' SubClassOf 'derives_from' some 'cell type' 'PH5CH8' SubClassOf 'derives_from' some 'hepatocyte' 'PH5CH8' SubClassOf 'cultured cell' 'PH5CH8' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022643 BON-1 'BON-1 ' SubClassOf 'derives_from' some 'cell type' 'BON-1 ' SubClassOf 'bearer_of' some 'pancreatic neuroendocrine tumor' 'BON-1 ' SubClassOf 'derives_from' some 'Homo sapiens' 'BON-1 ' SubClassOf 'cultured cell' 'BON-1 ' SubClassOf 'derives_from' some 'lymph node' http://www.ebi.ac.uk/efo/EFO_0022640 SAVC 'SAVC' SubClassOf 'lymphoblastoid cell line' 'SAVC' SubClassOf 'derives_from' some 'cell type' 'SAVC' SubClassOf 'derives_from' some 'blood' 'SAVC' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022679 SACC-83 'SACC-83' SubClassOf 'derives_from' some 'saliva-secreting gland' 'SACC-83' SubClassOf 'cancer cell line' 'SACC-83' SubClassOf 'derives_from' some 'cell type' 'SACC-83' SubClassOf 'derives_from' some 'Homo sapiens' 'SACC-83' SubClassOf 'bearer_of' some 'salivary gland adenoid cystic carcinoma' 'SACC-83' SubClassOf 'bearer_of' some 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_0022678 HCCLM-3 'HCCLM-3' SubClassOf 'derives_from' some 'cell type' 'HCCLM-3' SubClassOf 'derives_from' some 'Homo sapiens' 'HCCLM-3' SubClassOf 'derives_from' some 'liver' 'HCCLM-3' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'HCCLM-3' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022675 NCI-H3122 'NCI-H3122' SubClassOf 'derives_from' some 'Homo sapiens' 'NCI-H3122' SubClassOf 'bearer_of' some 'lung adenocarcinoma' 'NCI-H3122' SubClassOf 'derives_from' some 'pleural effusion' 'NCI-H3122' SubClassOf 'derives_from' some 'cell type' 'NCI-H3122' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022674 K1 'K1' SubClassOf 'bearer_of' some 'papillary thyroid carcinoma' 'K1' SubClassOf 'derives_from' some 'thyroid gland' 'K1' SubClassOf 'cultured cell' 'K1' SubClassOf 'derives_from' some 'Homo sapiens' 'K1' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022677 5-8F '5-8F' SubClassOf 'derives_from' some 'nasopharynx' '5-8F' SubClassOf 'bearer_of' some 'nasopharyngeal carcinoma' '5-8F' SubClassOf 'derives_from' some 'cell type' '5-8F' SubClassOf 'derives_from' some 'Homo sapiens' '5-8F' SubClassOf 'cultured cell' '5-8F' SubClassOf 'bearer_of' some 'nasopharyngeal squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0022676 SW-1736 'SW-1736' SubClassOf 'derives_from' some 'thyroid gland' 'SW-1736' SubClassOf 'derives_from' some 'cell type' 'SW-1736' SubClassOf 'bearer_of' some 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' 'SW-1736' SubClassOf 'derives_from' some 'Homo sapiens' 'SW-1736' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022671 UWR2 'UWR2' SubClassOf 'derives_from' some 'Homo sapiens' 'UWR2' SubClassOf 'cultured cell' 'UWR2' SubClassOf 'derives_from' some 'cell type' 'UWR2' SubClassOf 'bearer_of' some 'glioblastoma' 'UWR2' SubClassOf 'derives_from' some 'brain' 'UWR2' SubClassOf 'bearer_of' some 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_0022670 UWR1 'UWR1' SubClassOf 'cultured cell' 'UWR1' SubClassOf 'bearer_of' some 'anaplastic astrocytoma' 'UWR1' SubClassOf 'derives_from' some 'cell type' 'UWR1' SubClassOf 'derives_from' some 'Homo sapiens' 'UWR1' SubClassOf 'derives_from' some 'brain' http://www.ebi.ac.uk/efo/EFO_0022673 BHP5-16 'BHP5-16' SubClassOf 'derives_from' some 'hypodermis' 'BHP5-16' SubClassOf 'derives_from' some 'Homo sapiens' 'BHP5-16' SubClassOf 'derives_from' some 'cell type' 'BHP5-16' SubClassOf 'bearer_of' some 'amelanotic melanoma' 'BHP5-16' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022672 GES-1 'GES-1' SubClassOf 'derives_from' some 'Homo sapiens' 'GES-1' SubClassOf 'cultured cell' 'GES-1' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022668 OVCAR-10 'OVCAR-10' SubClassOf 'bearer_of' some 'ovarian carcinoma' 'OVCAR-10' SubClassOf 'derives_from' some 'ovary' 'OVCAR-10' SubClassOf 'derives_from' some 'Homo sapiens' 'OVCAR-10' SubClassOf 'cultured cell' 'OVCAR-10' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022667 RCB2099 'RCB2099' SubClassOf 'cultured cell' 'RCB2099' SubClassOf 'bearer_of' some 'esophageal squamous cell carcinoma' 'RCB2099' SubClassOf 'derives_from' some 'esophagus' 'RCB2099' SubClassOf 'derives_from' some 'Homo sapiens' 'RCB2099' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022669 8505C '8505C' SubClassOf 'bearer_of' some 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' '8505C' SubClassOf 'derives_from' some 'cell type' '8505C' SubClassOf 'cancer cell line' '8505C' SubClassOf 'derives_from' some 'Homo sapiens' '8505C' SubClassOf 'derives_from' some 'thyroid gland' http://www.ebi.ac.uk/efo/EFO_0022664 Colo-320 'Colo-320' SubClassOf 'derives_from' some 'cell type' 'Colo-320' SubClassOf 'derives_from' some 'Homo sapiens' 'Colo-320' SubClassOf 'derives_from' some 'colon' 'Colo-320' SubClassOf 'colorectal cancer cell line' 'Colo-320' SubClassOf 'bearer_of' some 'colorectal carcinoma' 'Colo-320' SubClassOf 'bearer_of' some 'colorectal cancer' http://www.ebi.ac.uk/efo/EFO_0022663 HuH-7-Lunet 'HuH-7-Lunet' SubClassOf 'derives_from' some 'liver' 'HuH-7-Lunet' SubClassOf 'derives_from' some 'Homo sapiens' 'HuH-7-Lunet' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'HuH-7-Lunet' SubClassOf 'cultured cell' 'HuH-7-Lunet' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022666 HeLa M 'HeLa M' SubClassOf 'derives_from' some 'Homo sapiens' 'HeLa M' SubClassOf 'HeLa' 'HeLa M' SubClassOf 'bearer_of' some 'cervical adenocarcinoma' 'HeLa M' SubClassOf 'derives_from' some 'uterine cervix' 'HeLa M' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022665 SF-188 'SF-188' SubClassOf 'derives_from' some 'brain' 'SF-188' SubClassOf 'derives_from' some 'cell type' 'SF-188' SubClassOf 'bearer_of' some 'glioma' 'SF-188' SubClassOf 'cultured cell' 'SF-188' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022660 PITOUT 'PITOUT' SubClassOf 'derives_from' some 'cell type' 'PITOUT' SubClassOf 'derives_from' some 'B cell' 'PITOUT' SubClassOf 'lymphoblastoid cell line' 'PITOUT' SubClassOf 'derives_from' some 'Homo sapiens' 'PITOUT' SubClassOf 'derives_from' some 'blood' http://www.ebi.ac.uk/efo/EFO_0022662 OSU-2 'OSU-2' SubClassOf 'derives_from' some 'Homo sapiens' 'OSU-2' SubClassOf 'fibroblast derived cell line' 'OSU-2' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022661 LCL1 'LCL1' SubClassOf 'derives_from' some 'Homo sapiens' 'LCL1' SubClassOf 'lymphoblastoid cell line' 'LCL1' SubClassOf 'derives_from' some 'cell type' 'LCL1' SubClassOf 'derives_from' some 'blood' http://www.ebi.ac.uk/efo/EFO_0022697 tsA-201 'tsA-201' SubClassOf 'derives_from' some 'Homo sapiens' 'tsA-201' SubClassOf 'cultured cell' 'tsA-201' SubClassOf 'derives_from' some 'cell type' 'tsA-201' SubClassOf 'derives_from' some 'kidney' http://www.ebi.ac.uk/efo/EFO_0022696 HVTs-SM1 'HVTs-SM1' SubClassOf 'derives_from' some 'Homo sapiens' 'HVTs-SM1' SubClassOf 'cultured cell' 'HVTs-SM1' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022699 RAO-3 'RAO-3' SubClassOf 'derives_from' some 'cell type' 'RAO-3' SubClassOf 'cultured cell' 'RAO-3' SubClassOf 'derives_from' some 'Homo sapiens' 'RAO-3' SubClassOf 'derives_from' some 'mammary gland epithelial cell' http://www.ebi.ac.uk/efo/EFO_0022698 XPCS2BA 'XPCS2BA' SubClassOf 'derives_from' some 'cell type' 'XPCS2BA' SubClassOf 'bearer_of' some 'xeroderma pigmentosum' 'XPCS2BA' SubClassOf 'derives_from' some 'fibroblast' 'XPCS2BA' SubClassOf 'derives_from' some 'Homo sapiens' 'XPCS2BA' SubClassOf 'fibroblast derived cell line' http://www.ebi.ac.uk/efo/EFO_0022693 HET-1A 'HET-1A' SubClassOf 'cultured cell' 'HET-1A' SubClassOf 'derives_from' some 'Homo sapiens' 'HET-1A' SubClassOf 'derives_from' some 'esophagus' 'HET-1A' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022692 IMR-5 'IMR-5' SubClassOf 'bearer_of' some 'neuroblastoma' 'IMR-5' SubClassOf 'derives_from' some 'Homo sapiens' 'IMR-5' SubClassOf 'derives_from' some 'abdomen' 'IMR-5' SubClassOf 'neuroblastoma cell line' 'IMR-5' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022695 U6A 'U6A' SubClassOf 'derives_from' some 'Homo sapiens' 'U6A' SubClassOf 'cultured cell' 'U6A' SubClassOf 'derives_from' some 'cell type' 'U6A' SubClassOf 'bearer_of' some 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0022694 MOLM-13 'MOLM-13' SubClassOf 'cultured cell' 'MOLM-13' SubClassOf 'derives_from' some 'blood' 'MOLM-13' SubClassOf 'derives_from' some 'Homo sapiens' 'MOLM-13' SubClassOf 'bearer_of' some 'acute myeloid leukemia' 'MOLM-13' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022691 BPH-1 'BPH-1' SubClassOf 'derives_from' some 'Homo sapiens' 'BPH-1' SubClassOf 'derives_from' some 'cell type' 'BPH-1' SubClassOf 'derives_from' some 'prostate gland' 'BPH-1' SubClassOf 'bearer_of' some 'benign prostatic hyperplasia' 'BPH-1' SubClassOf 'prostate cancer cell line' 'BPH-1' SubClassOf 'derives_from' some 'epithelial cell of prostate' http://www.ebi.ac.uk/efo/EFO_0022690 697 '697' SubClassOf 'cultured cell' '697' SubClassOf 'derives_from' some 'Homo sapiens' '697' SubClassOf 'derives_from' some 'bone marrow' '697' SubClassOf 'bearer_of' some 'acute lymphoblastic leukemia' '697' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022689 FU-OV-1 'FU-OV-1' SubClassOf 'derives_from' some 'cell type' 'FU-OV-1' SubClassOf 'derives_from' some 'ovary' 'FU-OV-1' SubClassOf 'bearer_of' some 'ovarian serous adenocarcinoma' 'FU-OV-1' SubClassOf 'cultured cell' 'FU-OV-1' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022686 HEK293S GnTI- 'HEK293S GnTI-' SubClassOf 'cultured cell' 'HEK293S GnTI-' SubClassOf 'derives_from' some 'Homo sapiens' 'HEK293S GnTI-' SubClassOf 'derives_from' some 'cell type' 'HEK293S GnTI-' SubClassOf 'derives_from' some 'kidney' http://www.ebi.ac.uk/efo/EFO_0022685 PER.C6 'PER.C6' SubClassOf 'cultured cell' 'PER.C6' SubClassOf 'derives_from' some 'Homo sapiens' 'PER.C6' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022688 LAN-5 'LAN-5' SubClassOf 'derives_from' some 'Homo sapiens' 'LAN-5' SubClassOf 'derives_from' some 'bone marrow' 'LAN-5' SubClassOf 'derives_from' some 'cell type' 'LAN-5' SubClassOf 'neuroblastoma cell line' 'LAN-5' SubClassOf 'bearer_of' some 'neuroblastoma' http://www.ebi.ac.uk/efo/EFO_0022687 HuTu-80 'HuTu-80' SubClassOf 'derives_from' some 'duodenum' 'HuTu-80' SubClassOf 'derives_from' some 'cell type' 'HuTu-80' SubClassOf 'bearer_of' some 'Duodenal Adenocarcinoma' 'HuTu-80' SubClassOf 'derives_from' some 'Homo sapiens' 'HuTu-80' SubClassOf 'cancer cell line' http://www.ebi.ac.uk/efo/EFO_0022682 Flp-In-T-REx 'Flp-In-T-REx' SubClassOf 'cultured cell' 'Flp-In-T-REx' SubClassOf 'derives_from' some 'cell type' 'Flp-In-T-REx' SubClassOf 'derives_from' some 'kidney' 'Flp-In-T-REx' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022681 SO-Rb50 'SO-Rb50' SubClassOf 'bearer_of' some 'retinoblastoma' 'SO-Rb50' SubClassOf 'derives_from' some 'Homo sapiens' 'SO-Rb50' SubClassOf 'cancer cell line' 'SO-Rb50' SubClassOf 'derives_from' some 'cell type' 'SO-Rb50' SubClassOf 'derives_from' some 'eye' http://www.ebi.ac.uk/efo/EFO_0022684 T/C-28a2 'T/C-28a2' SubClassOf 'cultured cell' 'T/C-28a2' SubClassOf 'derives_from' some 'Homo sapiens' 'T/C-28a2' SubClassOf 'derives_from' some 'chondrocyte' 'T/C-28a2' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022683 T-REx-HeLa 'T-REx-HeLa' SubClassOf 'derives_from' some 'cell type' 'T-REx-HeLa' SubClassOf 'derives_from' some 'Homo sapiens' 'T-REx-HeLa' SubClassOf 'derives_from' some 'uterus' 'T-REx-HeLa' SubClassOf 'bearer_of' some 'cervical adenocarcinoma' 'T-REx-HeLa' SubClassOf 'cervical adenocarcinoma cell line' http://www.ebi.ac.uk/efo/EFO_0022680 T2 'T2' SubClassOf 'derives_from' some 'Homo sapiens' 'T2' SubClassOf 'derives_from' some 'blood' 'T2' SubClassOf 'derives_from' some 'cell type' 'T2' SubClassOf 'cultured cell' http://purl.obolibrary.org/obo/MONDO_0009060 cystic disease of lung 'cystic disease of lung' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0022833 Hepa 1-6 'Hepa 1-6' SubClassOf 'derives_from' some 'Mus musculus' 'Hepa 1-6' SubClassOf 'hepatoma cell line' 'Hepa 1-6' SubClassOf 'derives_from' some 'cell type' 'Hepa 1-6' SubClassOf 'derives_from' some 'liver' http://www.ebi.ac.uk/efo/EFO_0022832 H19-7 'H19-7' SubClassOf 'derives_from' some 'cell type' 'H19-7' SubClassOf 'derives_from' some 'Rattus norvegicus' 'H19-7' SubClassOf 'rat cell line' http://www.ebi.ac.uk/efo/EFO_0022835 HL-1 'HL-1' SubClassOf 'derives_from' some 'cell type' 'HL-1' SubClassOf 'derives_from' some 'heart' 'HL-1' SubClassOf 'derives_from' some 'cardiac muscle cell' 'HL-1' SubClassOf 'derives_from' some 'Mus musculus' 'HL-1' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022834 HIRc-B 'HIRc-B' SubClassOf 'derives_from' some 'Rattus norvegicus' 'HIRc-B' SubClassOf 'derives_from' some 'embryo' 'HIRc-B' SubClassOf 'derives_from' some 'fibroblast' 'HIRc-B' SubClassOf 'derives_from' some 'cell type' 'HIRc-B' SubClassOf 'immortal cell line cell' http://www.ebi.ac.uk/efo/EFO_0022831 F111 'F111' SubClassOf 'derives_from' some 'embryo' 'F111' SubClassOf 'derives_from' some 'cell type' 'F111' SubClassOf 'rat cell line' 'F111' SubClassOf 'derives_from' some 'Rattus norvegicus' http://www.ebi.ac.uk/efo/EFO_0022830 DC2.4 'DC2.4' SubClassOf 'derives_from' some 'bone marrow' 'DC2.4' SubClassOf 'derives_from' some 'cell type' 'DC2.4' SubClassOf 'cultured cell' 'DC2.4' SubClassOf 'derives_from' some 'dendritic cell' 'DC2.4' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022829 Comma-D 'Comma-D' SubClassOf 'derives_from' some 'Mus musculus' 'Comma-D' SubClassOf 'derives_from' some 'cell type' 'Comma-D' SubClassOf 'derives_from' some 'mammary gland' 'Comma-D' SubClassOf 'derives_from' some 'mammary gland epithelial cell' 'Comma-D' SubClassOf 'epithelial cell derived cell line' http://www.ebi.ac.uk/efo/EFO_0022826 CHO9 'CHO9' SubClassOf 'derives_from' some 'cell type' 'CHO9' SubClassOf 'fibroblast derived cell line' 'CHO9' SubClassOf 'derives_from' some 'Cricetulus griseus' 'CHO9' SubClassOf 'derives_from' some 'fibroblast' http://www.ebi.ac.uk/efo/EFO_0022825 CF2Th 'CF2Th' SubClassOf 'derives_from' some 'Canis lupus familiaris' 'CF2Th' SubClassOf 'cultured cell' 'CF2Th' SubClassOf 'derives_from' some 'thymus' 'CF2Th' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022828 CHOP 'CHOP' SubClassOf 'derives_from' some 'Cricetulus griseus' 'CHOP' SubClassOf 'cultured cell' 'CHOP' SubClassOf 'derives_from' some 'cell type' 'CHOP' SubClassOf 'derives_from' some 'epithelial cell' 'CHOP' SubClassOf 'derives_from' some 'ovary' http://www.ebi.ac.uk/efo/EFO_0022827 CHO-IR 'CHO-IR' SubClassOf 'derives_from' some 'ovary' 'CHO-IR' SubClassOf 'derives_from' some 'epithelial cell' 'CHO-IR' SubClassOf 'epithelial cell derived cell line' 'CHO-IR' SubClassOf 'derives_from' some 'Cricetulus griseus' 'CHO-IR' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022822 BAEC 'BAEC' SubClassOf 'endothelial cell derived cell line' 'BAEC' SubClassOf 'derives_from' some 'Bos taurus' 'BAEC' SubClassOf 'derives_from' some 'aorta endothelium' 'BAEC' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/CL_0002544 'BAEC' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022821 B16-F1 'B16-F1 ' SubClassOf 'derives_from' some 'cell type' 'B16-F1 ' SubClassOf 'bearer_of' some 'melanoma' 'B16-F1 ' SubClassOf 'derives_from' some 'skin of body' 'B16-F1 ' SubClassOf 'cultured cell' 'B16-F1 ' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022824 Dede 'Dede' SubClassOf 'derives_from' some 'Cricetulus griseus' 'Dede' SubClassOf 'derives_from' some 'fibroblast of lung' 'Dede' SubClassOf 'lung fibroblast derived cell line' 'Dede' SubClassOf 'derives_from' some 'lung' 'Dede' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022823 C-127 'C-127 ' SubClassOf 'bearer_of' some 'breast neoplasm' 'C-127 ' SubClassOf 'derives_from' some 'Mus musculus' 'C-127 ' SubClassOf 'derives_from' some 'cell type' 'C-127 ' SubClassOf 'mammary gland cell line' 'C-127 ' SubClassOf 'derives_from' some 'mammary gland' http://www.ebi.ac.uk/efo/EFO_0022820 B104 'B104' SubClassOf 'bearer_of' some 'neuroblastoma' 'B104' SubClassOf 'derives_from' some 'central nervous system' 'B104' SubClassOf 'derives_from' some 'Rattus norvegicus' 'B104' SubClassOf 'cultured cell' 'B104' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022819 alphaT3-1 'alphaT3-1' SubClassOf 'bearer_of' some 'pituitary cancer' 'alphaT3-1' SubClassOf 'cultured cell' 'alphaT3-1' SubClassOf 'derives_from' some 'Mus musculus' 'alphaT3-1' SubClassOf 'derives_from' some 'pituitary gland' 'alphaT3-1' SubClassOf 'bearer_of' some 'pituitary tumor' 'alphaT3-1' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022818 NS-0 'NS-0' SubClassOf 'derives_from' some 'Mus musculus' 'NS-0' SubClassOf 'bearer_of' some 'multiple myeloma' 'NS-0' SubClassOf 'derives_from' some 'cell type' 'NS-0' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022815 AKR-2B 'AKR-2B' SubClassOf 'immortal cell line cell' 'AKR-2B' SubClassOf 'derives_from' some 'cell type' 'AKR-2B' SubClassOf 'derives_from' some 'embryo' 'AKR-2B' SubClassOf 'derives_from' some 'Mus musculus' 'AKR-2B' SubClassOf 'derives_from' some 'embryonic cell (metazoa)' http://www.ebi.ac.uk/efo/EFO_0022814 AR4-2J 'AR4-2J' SubClassOf 'cancer cell line' 'AR4-2J' SubClassOf 'derives_from' some 'pancreas' 'AR4-2J' SubClassOf 'derives_from' some 'Rattus norvegicus' 'AR4-2J' SubClassOf 'bearer_of' some 'pancreatic neuroendocrine tumor' 'AR4-2J' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022817 PFHR 9 'PFHR 9' SubClassOf 'derives_from' some 'embryo' 'PFHR 9' SubClassOf 'derives_from' some 'cell type' 'PFHR 9' SubClassOf 'cultured cell' 'PFHR 9' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022816 RN33B 'RN33B' SubClassOf 'cultured cell' 'RN33B' SubClassOf 'derives_from' some 'cell type' 'RN33B' SubClassOf 'derives_from' some 'brain' 'RN33B' SubClassOf 'derives_from' some 'Rattus norvegicus' 'RN33B' SubClassOf 'derives_from' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0022811 MA-104 'MA-104' SubClassOf 'derives_from' some 'cell type' 'MA-104' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/NCBITaxon_60710 'MA-104' SubClassOf 'kidney derived cell line' http://www.ebi.ac.uk/efo/EFO_0022810 B1-8 'B1-8' SubClassOf 'cultured cell' 'B1-8' SubClassOf 'derives_from' some 'Mus musculus' 'B1-8' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022813 V-79 'V-79' SubClassOf 'derives_from' some 'Cricetulus griseus' 'V-79' SubClassOf 'derives_from' some 'cell type' 'V-79' SubClassOf 'derives_from' some 'fibroblast of lung' 'V-79' SubClassOf 'derives_from' some 'lung' 'V-79' SubClassOf 'lung fibroblast derived cell line' http://www.ebi.ac.uk/efo/EFO_0022812 SV40LT-SMC Clone HEP-SA 'SV40LT-SMC Clone HEP-SA' SubClassOf 'derives_from' some 'Rattus norvegicus' 'SV40LT-SMC Clone HEP-SA' SubClassOf 'derives_from' some 'cell type' 'SV40LT-SMC Clone HEP-SA' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022808 HIB-1B 'HIB-1B' SubClassOf 'derives_from' some 'adipocyte' 'HIB-1B' SubClassOf 'derives_from' some 'cell type' 'HIB-1B' SubClassOf 'derives_from' some 'brown adipose tissue' 'HIB-1B' SubClassOf 'cultured cell' 'HIB-1B' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022807 MTLn3 'MTLn3' SubClassOf 'derives_from' some 'mammary gland' 'MTLn3' SubClassOf 'mammary gland cell line' 'MTLn3' SubClassOf 'bearer_of' some 'breast adenocarcinoma' 'MTLn3' SubClassOf 'derives_from' some 'Rattus norvegicus' 'MTLn3' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022809 ROS-17/2.8 'ROS-17/2.8' SubClassOf 'derives_from' some 'Rattus norvegicus' 'ROS-17/2.8' SubClassOf 'osteosarcoma cell line' 'ROS-17/2.8' SubClassOf 'bearer_of' some 'osteosarcoma' 'ROS-17/2.8' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022804 RN-46A 'RN-46A' SubClassOf 'cultured cell' 'RN-46A' SubClassOf 'derives_from' some 'neuron' 'RN-46A' SubClassOf 'derives_from' some 'Rattus norvegicus' 'RN-46A' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022803 GD25 'GD25' SubClassOf 'cultured cell' 'GD25' SubClassOf 'derives_from' some 'Mus musculus' 'GD25' SubClassOf 'derives_from' some 'embryonic stem cell' 'GD25' SubClassOf 'derives_from' some 'embryo' 'GD25' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022806 UMR-106 'UMR-106' SubClassOf 'osteosarcoma cell line' 'UMR-106' SubClassOf 'derives_from' some 'Rattus norvegicus' 'UMR-106' SubClassOf 'derives_from' some 'cell type' 'UMR-106' SubClassOf 'bearer_of' some 'osteosarcoma' http://www.ebi.ac.uk/efo/EFO_0022805 T37i 'T37i' SubClassOf 'derives_from' some 'cell type' 'T37i' SubClassOf 'cultured cell' 'T37i' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/CL_0000449 'T37i' SubClassOf 'derives_from' some 'brown adipose tissue' 'T37i' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022800 NMuMg 'NMuMg' SubClassOf 'derives_from' some 'cell type' 'NMuMg' SubClassOf 'derives_from' some 'Mus musculus' 'NMuMg' SubClassOf 'derives_from' some 'mammary gland epithelial cell' 'NMuMg' SubClassOf 'epithelial cell derived cell line' 'NMuMg' SubClassOf 'derives_from' some 'mammary gland' http://www.ebi.ac.uk/efo/EFO_0022802 BAC1.2F5 'BAC1.2F5' SubClassOf 'macrophage cell line' 'BAC1.2F5' SubClassOf 'derives_from' some 'Mus musculus' 'BAC1.2F5' SubClassOf 'derives_from' some 'cell type' 'BAC1.2F5' SubClassOf 'derives_from' some 'macrophage' http://www.ebi.ac.uk/efo/EFO_0022801 B95-8 'B95-8' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/NCBITaxon_9490 'B95-8' SubClassOf 'derives_from' some 'cell type' 'B95-8' SubClassOf 'B-lymphoma cell line' 'B95-8' SubClassOf 'derives_from' some 'blood' 'B95-8' SubClassOf 'derives_from' some 'lymphocyte' http://www.ebi.ac.uk/efo/EFO_0022719 RH-41 'RH-41' SubClassOf 'derives_from' some 'lung' 'RH-41' SubClassOf 'bearer_of' some 'alveolar rhabdomyosarcoma' 'RH-41' SubClassOf 'cultured cell' 'RH-41' SubClassOf 'derives_from' some 'cell type' 'RH-41' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022716 WRL-68 'WRL-68' SubClassOf 'bearer_of' some 'cervical adenocarcinoma' 'WRL-68' SubClassOf 'HeLa' 'WRL-68' SubClassOf 'derives_from' some 'Homo sapiens' 'WRL-68' SubClassOf 'derives_from' some 'uterine cervix' 'WRL-68' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022715 SK-CO15 'SK-CO15' SubClassOf 'derives_from' some 'cell type' 'SK-CO15' SubClassOf 'derives_from' some 'Homo sapiens' 'SK-CO15' SubClassOf 'colonic epithelium cell line' 'SK-CO15' SubClassOf 'derives_from' some 'intestinal epithelial cell' http://www.ebi.ac.uk/efo/EFO_0022718 TCam-2 'TCam-2' SubClassOf 'derives_from' some 'testis' 'TCam-2' SubClassOf 'derives_from' some 'Homo sapiens' 'TCam-2' SubClassOf 'cultured cell' 'TCam-2' SubClassOf 'derives_from' some 'cell type' 'TCam-2' SubClassOf 'bearer_of' some 'testicular seminoma' http://www.ebi.ac.uk/efo/EFO_0022717 8305C '8305C' SubClassOf 'cancer cell line' '8305C' SubClassOf 'derives_from' some 'cell type' '8305C' SubClassOf 'derives_from' some 'Homo sapiens' '8305C' SubClassOf 'bearer_of' some 'thyroid carcinoma' '8305C' SubClassOf 'derives_from' some 'thyroid gland' http://www.ebi.ac.uk/efo/EFO_0022712 LN-428 'LN-428' SubClassOf 'derives_from' some 'brain' 'LN-428' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'LN-428' SubClassOf 'derives_from' some 'Homo sapiens' 'LN-428' SubClassOf 'bearer_of' some 'glioblastoma' 'LN-428' SubClassOf 'derives_from' some 'cell type' 'LN-428' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022711 LX-2 'LX-2' SubClassOf 'derives_from' some 'hepatic stellate cell' 'LX-2' SubClassOf 'cultured cell' 'LX-2' SubClassOf 'derives_from' some 'Homo sapiens' 'LX-2' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022714 LN-308 'LN-308' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'LN-308' SubClassOf 'derives_from' some 'brain' 'LN-308' SubClassOf 'bearer_of' some 'glioblastoma' 'LN-308' SubClassOf 'derives_from' some 'Homo sapiens' 'LN-308' SubClassOf 'derives_from' some 'cell type' 'LN-308' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022713 Nthy-ori 3-1 'Nthy-ori 3-1' SubClassOf 'derives_from' some 'Homo sapiens' 'Nthy-ori 3-1' SubClassOf 'derives_from' some 'cell type' 'Nthy-ori 3-1' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022710 Mahlavu 'Mahlavu' SubClassOf 'derives_from' some 'Homo sapiens' 'Mahlavu' SubClassOf 'cancer cell line' 'Mahlavu' SubClassOf 'derives_from' some 'cell type' 'Mahlavu' SubClassOf 'bearer_of' some 'hepatocellular carcinoma' 'Mahlavu' SubClassOf 'derives_from' some 'liver' http://www.ebi.ac.uk/efo/EFO_0022709 BEL-7402 'BEL-7402' SubClassOf 'derives_from' some 'cell type' 'BEL-7402' SubClassOf 'derives_from' some 'uterine cervix' 'BEL-7402' SubClassOf 'HeLa' 'BEL-7402' SubClassOf 'derives_from' some 'Homo sapiens' 'BEL-7402' SubClassOf 'bearer_of' some 'cervical adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0022708 PD20 'PD20' SubClassOf 'fibroblast' 'PD20' SubClassOf 'derives_from' some 'fibroblast' 'PD20' SubClassOf 'derives_from' some 'Homo sapiens' 'PD20' SubClassOf 'derives_from' some 'cell type' 'PD20' SubClassOf 'bearer_of' some 'Fanconi anemia complementation group D2' http://www.ebi.ac.uk/efo/EFO_0022705 U3118MG 'U3118MG' SubClassOf 'derives_from' some 'brain' 'U3118MG' SubClassOf 'derives_from' some 'Homo sapiens' 'U3118MG' SubClassOf 'derives_from' some 'cell type' 'U3118MG' SubClassOf 'cultured cell' 'U3118MG' SubClassOf 'bearer_of' some 'glioblastoma' 'U3118MG' SubClassOf 'bearer_of' some 'glioblastoma multiforme' http://www.ebi.ac.uk/efo/EFO_0022704 NCM-460 'NCM-460' SubClassOf 'derives_from' some 'cell type' 'NCM-460' SubClassOf 'derives_from' some 'colon' 'NCM-460' SubClassOf 'derives_from' some 'Homo sapiens' 'NCM-460' SubClassOf 'colonic epithelium cell line' http://www.ebi.ac.uk/efo/EFO_0022707 HKE-3 'HKE-3' SubClassOf 'derives_from' some 'Homo sapiens' 'HKE-3' SubClassOf 'bearer_of' some 'colorectal carcinoma' 'HKE-3' SubClassOf 'derives_from' some 'colon' 'HKE-3' SubClassOf 'cultured cell' 'HKE-3' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022706 U3082MG 'U3082MG' SubClassOf 'derives_from' some 'cell type' 'U3082MG' SubClassOf 'bearer_of' some 'glioblastoma multiforme' 'U3082MG' SubClassOf 'derives_from' some 'brain' 'U3082MG' SubClassOf 'cultured cell' 'U3082MG' SubClassOf 'bearer_of' some 'glioblastoma' 'U3082MG' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022701 MCF-7/C4-12 'MCF-7/C4-12' SubClassOf 'bearer_of' some 'Invasive Breast Carcinoma' 'MCF-7/C4-12' SubClassOf 'derives_from' some 'Homo sapiens' 'MCF-7/C4-12' SubClassOf 'cultured cell' 'MCF-7/C4-12' SubClassOf 'derives_from' some 'cell type' 'MCF-7/C4-12' SubClassOf 'derives_from' some 'breast' http://www.ebi.ac.uk/efo/EFO_0022700 EW-7 'EW-7' SubClassOf 'bearer_of' some 'Ewing sarcoma' 'EW-7' SubClassOf 'derives_from' some 'cell type' 'EW-7' SubClassOf 'derives_from' some 'Homo sapiens' 'EW-7' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022703 HSC-3 'HSC-3' SubClassOf 'cancer cell line' 'HSC-3' SubClassOf 'bearer_of' some 'oral squamous cell carcinoma' 'HSC-3' SubClassOf 'derives_from' some 'tongue' 'HSC-3' SubClassOf 'derives_from' some 'cell type' 'HSC-3' SubClassOf 'derives_from' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0022702 OV-2008 'OV-2008' SubClassOf 'derives_from' some 'cell type' 'OV-2008' SubClassOf 'bearer_of' some 'ovarian serous cystadenocarcinoma' 'OV-2008' SubClassOf 'cancer cell line' 'OV-2008' SubClassOf 'derives_from' some 'Homo sapiens' 'OV-2008' SubClassOf 'derives_from' some 'ovary' http://www.ebi.ac.uk/efo/EFO_0022738 HTC 'HTC' SubClassOf 'derives_from' some 'Rattus norvegicus' 'HTC' SubClassOf 'derives_from' some 'ascitic fluid' 'HTC' SubClassOf 'hepatoma cell line' 'HTC' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022737 P-388D1 'P-388D1' SubClassOf 'cultured cell' 'P-388D1' SubClassOf 'derives_from' some 'Mus musculus' 'P-388D1' SubClassOf 'derives_from' some 'cell type' 'P-388D1' SubClassOf 'bearer_of' some 'lymphoma' 'P-388D1' SubClassOf 'derives_from' some 'lymphocyte' http://www.ebi.ac.uk/efo/EFO_0022739 FDCP-1 'FDCP-1' SubClassOf 'derives_from' some 'bone marrow' 'FDCP-1' SubClassOf 'derives_from' some 'cell type' 'FDCP-1' SubClassOf 'derives_from' some 'bone marrow cell' 'FDCP-1' SubClassOf 'cultured cell' 'FDCP-1' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022734 Vero 'Vero' SubClassOf 'derives_from' some 'Chlorocebus sabaeus' 'Vero' SubClassOf 'derives_from' some 'cell type' 'Vero' SubClassOf 'derives_from' some 'kidney cell' 'Vero' SubClassOf 'derives_from' some 'kidney' 'Vero' SubClassOf 'kidney derived cell line' http://www.ebi.ac.uk/efo/EFO_0022733 CV-1 'CV-1' SubClassOf 'derives_from' some 'cell type' 'CV-1' SubClassOf 'derives_from' some 'Chlorocebus aethiops' 'CV-1' SubClassOf 'derives_from' some 'kidney' 'CV-1' SubClassOf 'derives_from' some 'kidney cell' 'CV-1' SubClassOf 'kidney derived cell line' http://www.ebi.ac.uk/efo/EFO_0022736 EL-4 'EL-4' SubClassOf 'bearer_of' some 'lymphoma' 'EL-4' SubClassOf 'derives_from' some 'ascitic fluid' 'EL-4' SubClassOf 'lymphoma or leukaemia cell line' 'EL-4' SubClassOf 'derives_from' some 'Mus musculus' 'EL-4' SubClassOf 'derives_from' some 'cell type' 'EL-4' SubClassOf 'derives_from' some 'T cell' http://www.ebi.ac.uk/efo/EFO_0022735 J-774A.1 'J-774A.1' SubClassOf 'macrophage cell line' 'J-774A.1' SubClassOf 'derives_from' some 'cell type' 'J-774A.1' SubClassOf 'derives_from' some 'Mus musculus' 'J-774A.1' SubClassOf 'derives_from' some 'macrophage' http://www.ebi.ac.uk/efo/EFO_0022730 Rat-1 'Rat-1' SubClassOf 'derives_from' some 'cell type' 'Rat-1' SubClassOf 'derives_from' some 'Rattus norvegicus' 'Rat-1' SubClassOf 'derives_from' some 'fibroblast' 'Rat-1' SubClassOf 'derives_from' some 'connective tissue' 'Rat-1' SubClassOf 'fibroblast derived cell line' http://www.ebi.ac.uk/efo/EFO_0022732 NIH EGFR-T17 'NIH EGFR-T17' SubClassOf 'cultured cell' 'NIH EGFR-T17' SubClassOf 'derives_from' some 'embryo' 'NIH EGFR-T17' SubClassOf 'derives_from' some 'fibroblast' 'NIH EGFR-T17' SubClassOf 'derives_from' some 'cell type' 'NIH EGFR-T17' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022731 HER 14 'HER 14' SubClassOf 'derives_from' some 'cell type' 'HER 14' SubClassOf 'derives_from' some 'fibroblast' 'HER 14' SubClassOf 'cultured cell' 'HER 14' SubClassOf 'derives_from' some 'Mus musculus' 'HER 14' SubClassOf 'derives_from' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0022727 BL-3 'BL-3' SubClassOf 'lymphoblastoid cell line' 'BL-3' SubClassOf 'derives_from' some 'cell type' 'BL-3' SubClassOf 'derives_from' some 'Bos taurus' http://www.ebi.ac.uk/efo/EFO_0022726 L-M 'L-M' SubClassOf 'derives_from' some 'Mus musculus' 'L-M' SubClassOf 'derives_from' some 'cell type' 'L-M' SubClassOf 'derives_from' some 'fibroblast' 'L-M' SubClassOf 'fibroblast derived cell line' http://www.ebi.ac.uk/efo/EFO_0022729 NIH-3T3-A14 'NIH-3T3-A14' SubClassOf 'derives_from' some 'fibroblast' 'NIH-3T3-A14' SubClassOf 'derives_from' some 'cell type' 'NIH-3T3-A14' SubClassOf 'cultured cell' 'NIH-3T3-A14' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022728 BRL 3A 'BRL 3A' SubClassOf 'cultured cell' 'BRL 3A' SubClassOf 'derives_from' some 'cell type' 'BRL 3A' SubClassOf 'derives_from' some 'Rattus norvegicus' 'BRL 3A' SubClassOf 'derives_from' some 'liver' http://www.ebi.ac.uk/efo/EFO_0022723 GC-2 'GC-2' SubClassOf 'derives_from' some 'cell type' 'GC-2' SubClassOf 'cultured cell' 'GC-2' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022722 fluid shear stress 'fluid shear stress' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022725 COS-7 'COS-7' SubClassOf 'kidney derived cell line' 'COS-7' SubClassOf 'derives_from' some 'Chlorocebus aethiops' 'COS-7' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022724 Tn5 B1-4 'Tn5 B1-4' SubClassOf 'derives_from' some 'cell type' 'Tn5 B1-4' SubClassOf 'embryonic cell line' 'Tn5 B1-4' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/NCBITaxon_7111 http://www.ebi.ac.uk/efo/EFO_0022721 Nucleosome 'Nucleosome' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022720 MEL-JUSO 'MEL-JUSO' SubClassOf 'derives_from' some 'skin of body' 'MEL-JUSO' SubClassOf 'melanoma cell line' 'MEL-JUSO' SubClassOf 'derives_from' some 'Homo sapiens' 'MEL-JUSO' SubClassOf 'bearer_of' some 'melanoma' 'MEL-JUSO' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022759 B16-F10 'B16-F10' SubClassOf 'derives_from' some 'Mus musculus' 'B16-F10' SubClassOf 'derives_from' some 'skin of body' 'B16-F10' SubClassOf 'derives_from' some 'cell type' 'B16-F10' SubClassOf 'bearer_of' some 'melanoma' 'B16-F10' SubClassOf 'melanoma cell line' http://www.ebi.ac.uk/efo/EFO_0022756 Neuro-2a 'Neuro-2a' SubClassOf 'derives_from' some 'cell type' 'Neuro-2a' SubClassOf 'bearer_of' some 'neuroblastoma' 'Neuro-2a' SubClassOf 'derives_from' some 'Mus musculus' 'Neuro-2a' SubClassOf 'neuroblastoma cell line' 'Neuro-2a' SubClassOf 'derives_from' some 'neuroblast (sensu Vertebrata)' 'Neuro-2a' SubClassOf 'derives_from' some 'peripheral nervous system' http://www.ebi.ac.uk/efo/EFO_0022755 32D clone3 '32D clone3' SubClassOf 'derives_from' some 'bone marrow' '32D clone3' SubClassOf 'derives_from' some 'cell type' '32D clone3' SubClassOf 'cultured cell' '32D clone3' SubClassOf 'derives_from' some 'Mus musculus' '32D clone3' SubClassOf 'derives_from' some 'bone marrow cell' http://www.ebi.ac.uk/efo/EFO_0022758 H2.35 'H2.35' SubClassOf 'derives_from' some 'Mus musculus' 'H2.35' SubClassOf 'derives_from' some 'liver' 'H2.35' SubClassOf 'hepatoma cell line' 'H2.35' SubClassOf 'derives_from' some 'cell type' 'H2.35' SubClassOf 'derives_from' some 'hepatocyte' http://www.ebi.ac.uk/efo/EFO_0022757 TRAMP-C1 'TRAMP-C1' SubClassOf 'derives_from' some 'Mus musculus' 'TRAMP-C1' SubClassOf 'derives_from' some 'prostate gland' 'TRAMP-C1' SubClassOf 'prostate cancer cell line' 'TRAMP-C1' SubClassOf 'derives_from' some 'cell type' 'TRAMP-C1' SubClassOf 'derives_from' some 'epithelial cell' http://www.ebi.ac.uk/efo/EFO_0022752 MLE-15 'MLE-15' SubClassOf 'epithelial cell derived cell line' 'MLE-15' SubClassOf 'derives_from' some 'Mus musculus' 'MLE-15' SubClassOf 'derives_from' some 'lung' 'MLE-15' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022751 PCCL-3 'PCCL-3' SubClassOf 'derives_from' some 'Rattus norvegicus' 'PCCL-3' SubClassOf 'cultured cell' 'PCCL-3' SubClassOf 'derives_from' some 'cell type' 'PCCL-3' SubClassOf 'derives_from' some 'thyroid gland' http://www.ebi.ac.uk/efo/EFO_0022754 TBY-2 'TBY-2' SubClassOf 'derives_from' some 'cell type' 'TBY-2' SubClassOf 'derives_from' some 'Nicotiana tabacum' 'TBY-2' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022753 Mv1Lu 'Mv1Lu' SubClassOf 'cultured cell' 'Mv1Lu' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/NCBITaxon_452646 'Mv1Lu' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022750 FAO 'FAO' SubClassOf 'derives_from' some 'liver' 'FAO' SubClassOf 'hepatoma cell line' 'FAO' SubClassOf 'derives_from' some 'cell type' 'FAO' SubClassOf 'derives_from' some 'Rattus norvegicus' http://www.ebi.ac.uk/efo/EFO_0022749 BA/F3 'BA/F3' SubClassOf 'derives_from' some 'blood' 'BA/F3' SubClassOf 'derives_from' some 'cell type' 'BA/F3' SubClassOf 'derives_from' some 'pro-B cell' 'BA/F3' SubClassOf 'cultured cell' 'BA/F3' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022748 PS120 'PS120' SubClassOf 'derives_from' some 'cell type' 'PS120' SubClassOf 'derives_from' some 'Cricetulus griseus' 'PS120' SubClassOf 'fibroblast derived cell line' 'PS120' SubClassOf 'derives_from' some 'lung' 'PS120' SubClassOf 'derives_from' some 'fibroblast of lung' http://www.ebi.ac.uk/efo/EFO_0022745 SF-9 'SF-9' SubClassOf 'derives_from' some 'ovary' 'SF-9' SubClassOf 'derives_from' some 'pupal stage' 'SF-9' SubClassOf 'cultured cell' 'SF-9' SubClassOf 'derives_from' some 'Spodoptera frugiperda' 'SF-9' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022744 SF-21 'SF-21' SubClassOf 'derives_from' some 'cell type' 'SF-21' SubClassOf 'derives_from' some 'ovary' 'SF-21' SubClassOf 'cultured cell' 'SF-21' SubClassOf 'derives_from' some 'Spodoptera frugiperda' http://www.ebi.ac.uk/efo/EFO_0022747 BHK-21 'BHK-21' SubClassOf 'derives_from' some 'kidney' 'BHK-21' SubClassOf 'kidney derived cell line' 'BHK-21' SubClassOf 'derives_from' some 'Mesocricetus auratus' 'BHK-21' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022746 MDCK 'MDCK' SubClassOf 'derives_from' some 'kidney' 'MDCK' SubClassOf 'kidney derived cell line' 'MDCK' SubClassOf 'derives_from' some 'Canis lupus familiaris' 'MDCK' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022741 DA-3 'DA-3' SubClassOf 'cultured cell' 'DA-3' SubClassOf 'derives_from' some 'Mus musculus' 'DA-3' SubClassOf 'bearer_of' some 'lymphoma' 'DA-3' SubClassOf 'derives_from' some 'lymphocyte' 'DA-3' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022740 N1E-115 'N1E-115' SubClassOf 'derives_from' some 'Mus musculus' 'N1E-115' SubClassOf 'derives_from' some 'cell type' 'N1E-115' SubClassOf 'neuroblastoma cell line' 'N1E-115' SubClassOf 'bearer_of' some 'neuroblastoma' 'N1E-115' SubClassOf 'derives_from' some 'neuroblast (sensu Vertebrata)' http://www.ebi.ac.uk/efo/EFO_0022743 QT6 'QT6' SubClassOf 'bearer_of' some 'fibrosarcoma' 'QT6' SubClassOf 'fibroblast derived cell line' 'QT6' SubClassOf 'derives_from' some 'fibroblast' 'QT6' SubClassOf 'derives_from' some 'Coturnix japonica' 'QT6' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022742 COS-1 'COS-1' SubClassOf 'derives_from' some 'cell type' 'COS-1' SubClassOf 'derives_from' some 'Chlorocebus aethiops' 'COS-1' SubClassOf 'derives_from' some 'kidney cell' 'COS-1' SubClassOf 'kidney derived cell line' 'COS-1' SubClassOf 'derives_from' some 'kidney' http://www.ebi.ac.uk/efo/EFO_0022778 RT4-D6P2T 'RT4-D6P2T' SubClassOf 'bearer_of' some 'schwannoma' 'RT4-D6P2T' SubClassOf 'cultured cell' 'RT4-D6P2T' SubClassOf 'derives_from' some 'cell type' 'RT4-D6P2T' SubClassOf 'derives_from' some 'Rattus norvegicus' http://www.ebi.ac.uk/efo/EFO_0022777 AtT-20 'AtT-20' SubClassOf 'derives_from' some 'pituitary gland' 'AtT-20' SubClassOf 'cultured cell' 'AtT-20' SubClassOf 'derives_from' some 'Mus musculus' 'AtT-20' SubClassOf 'bearer_of' some 'pituitary cancer' 'AtT-20' SubClassOf 'bearer_of' some 'pituitary tumor' 'AtT-20' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022779 C6 glioma cell 'C6 glioma cell' SubClassOf 'cultured cell' 'C6 glioma cell' SubClassOf 'derives_from' some 'brain' 'C6 glioma cell' SubClassOf 'bearer_of' some 'glioma' 'C6 glioma cell' SubClassOf 'derives_from' some 'cell type' 'C6 glioma cell' SubClassOf 'derives_from' some 'Rattus norvegicus' 'C6 glioma cell' SubClassOf 'derives_from' some 'glial cell' http://www.ebi.ac.uk/efo/EFO_0022774 P-19 'P-19' SubClassOf 'derives_from' some 'cell type' 'P-19' SubClassOf 'derives_from' some 'Mus musculus' 'P-19' SubClassOf 'derives_from' some 'embryo' 'P-19' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022773 ME17 'ME17' SubClassOf 'cultured cell' 'ME17' SubClassOf 'derives_from' some 'Mus musculus' 'ME17' SubClassOf 'derives_from' some 'erythroblast' 'ME17' SubClassOf 'derives_from' some 'cell type' 'ME17' SubClassOf 'derives_from' some 'liver' http://www.ebi.ac.uk/efo/EFO_0022776 S-180 'S-180' SubClassOf 'bearer_of' some 'sarcoma' 'S-180' SubClassOf 'derives_from' some 'ascitic fluid' 'S-180' SubClassOf 'cultured cell' 'S-180' SubClassOf 'derives_from' some 'Mus musculus' 'S-180' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022775 Do11.10 'Do11.10' SubClassOf 'cultured cell' 'Do11.10' SubClassOf 'derives_from' some 'cell type' 'Do11.10' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022770 REF-52 'REF-52' SubClassOf 'embryonic cell line' 'REF-52' SubClassOf 'derives_from' some 'Rattus norvegicus' 'REF-52' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022772 J2E 'J2E' SubClassOf 'derives_from' some 'cell type' 'J2E' SubClassOf 'derives_from' some 'Mus musculus' 'J2E' SubClassOf 'derives_from' some 'liver' 'J2E' SubClassOf 'derives_from' some 'erythroblast' 'J2E' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022771 BSC-40 'BSC-40' SubClassOf 'kidney derived cell line' 'BSC-40' SubClassOf 'derives_from' some 'cell type' 'BSC-40' SubClassOf 'derives_from' some 'kidney' 'BSC-40' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/NCBITaxon_60710 http://www.ebi.ac.uk/efo/EFO_0022767 L-6 'L-6' SubClassOf 'myoblast cell line' 'L-6' SubClassOf 'derives_from' some 'skeletal muscle myoblast' 'L-6' SubClassOf 'derives_from' some 'Rattus norvegicus' 'L-6' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022766 B16 'B16' SubClassOf 'derives_from' some 'skin of body' 'B16' SubClassOf 'derives_from' some 'Mus musculus' 'B16' SubClassOf 'bearer_of' some 'melanoma' 'B16' SubClassOf 'cultured cell' 'B16' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022769 70Z/3 '70Z/3' SubClassOf 'derives_from' some 'cell type' '70Z/3' SubClassOf 'bearer_of' some 'leukemia' '70Z/3' SubClassOf 'lymphoma or leukaemia cell line' '70Z/3' SubClassOf 'derives_from' some 'precursor B cell' '70Z/3' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022768 H-4-II-E 'H-4-II-E' SubClassOf 'derives_from' some 'Rattus norvegicus' 'H-4-II-E' SubClassOf 'cultured cell' 'H-4-II-E' SubClassOf 'derives_from' some 'liver' 'H-4-II-E' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022763 P6 'P6' SubClassOf 'derives_from' some 'cell type' 'P6' SubClassOf 'derives_from' some 'Mus musculus' 'P6' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022762 NRK-52E 'NRK-52E' SubClassOf 'kidney derived cell line' 'NRK-52E' SubClassOf 'derives_from' some 'cell type' 'NRK-52E' SubClassOf 'derives_from' some 'Rattus norvegicus' 'NRK-52E' SubClassOf 'derives_from' some 'kidney' http://www.ebi.ac.uk/efo/EFO_0022765 RK-13 'RK-13' SubClassOf 'derives_from' some 'Oryctolagus cuniculus' 'RK-13' SubClassOf 'derives_from' some 'cell type' 'RK-13' SubClassOf 'derives_from' some 'kidney' 'RK-13' SubClassOf 'colonic epithelium cell line' http://www.ebi.ac.uk/efo/EFO_0022764 RIN-m 'RIN-m' SubClassOf 'derives_from' some 'cell type' 'RIN-m' SubClassOf 'derives_from' some 'pancreas' 'RIN-m' SubClassOf 'derives_from' some 'Rattus norvegicus' 'RIN-m' SubClassOf 'cultured cell' 'RIN-m' SubClassOf 'derives_from' some 'type B pancreatic cell' http://www.ebi.ac.uk/efo/EFO_0022761 PC12h 'PC12h' SubClassOf 'derives_from' some 'Rattus norvegicus' 'PC12h' SubClassOf 'derives_from' some 'adrenal gland' 'PC12h' SubClassOf 'derives_from' some 'cell type' 'PC12h' SubClassOf 'cancer cell line' 'PC12h' SubClassOf 'bearer_of' some 'adrenal gland pheochromocytoma' http://www.ebi.ac.uk/efo/EFO_0022760 CHO 'CHO' SubClassOf 'derives_from' some 'ovary' 'CHO' SubClassOf 'cultured cell' 'CHO' SubClassOf 'derives_from' some 'Cricetulus griseus' 'CHO' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022799 MTD-1A 'MTD-1A' SubClassOf 'derives_from' some 'Mus musculus' 'MTD-1A' SubClassOf 'epithelial cell derived cell line' 'MTD-1A' SubClassOf 'derives_from' some 'epithelial cell' 'MTD-1A' SubClassOf 'derives_from' some 'cell type' 'MTD-1A' SubClassOf 'bearer_of' some 'breast neoplasm' http://www.ebi.ac.uk/efo/EFO_0022796 32D '32D' SubClassOf 'derives_from' some 'cell type' '32D' SubClassOf 'derives_from' some 'Mus musculus' '32D' SubClassOf 'derives_from' some 'bone marrow' '32D' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022795 MES-23.5 'MES-23.5 ' SubClassOf 'derives_from' some 'Rattus norvegicus' 'MES-23.5 ' SubClassOf 'bearer_of' some 'neuroblastoma' 'MES-23.5 ' SubClassOf 'derives_from' some 'cell type' 'MES-23.5 ' SubClassOf 'neuroblastoma cell line' 'MES-23.5 ' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022798 CHO-AA8 'CHO-AA8 ' SubClassOf 'derives_from' some 'Cricetulus griseus' 'CHO-AA8 ' SubClassOf 'derives_from' some 'ovary' 'CHO-AA8 ' SubClassOf 'cultured cell' 'CHO-AA8 ' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022797 MES13 'MES13' SubClassOf 'derives_from' some 'embryo' 'MES13' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/NCBITaxon_452646 'MES13' SubClassOf 'cultured cell' 'MES13' SubClassOf 'derives_from' some 'embryonic stem cell' 'MES13' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022792 BV-2 'BV-2' SubClassOf 'derives_from' some 'Mus musculus' 'BV-2' SubClassOf 'cultured cell' 'BV-2' SubClassOf 'derives_from' some 'brain' 'BV-2' SubClassOf 'derives_from' some 'microglial cell' 'BV-2' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022791 N18 'N18' SubClassOf 'derives_from' some 'Rattus norvegicus' 'N18' SubClassOf 'derives_from' some 'cell type' 'N18' SubClassOf 'derives_from' some 'Mus musculus' 'N18' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022794 OKP 'OKP' SubClassOf 'derives_from' some 'cell type' 'OKP' SubClassOf 'kidney derived cell line' 'OKP' SubClassOf 'derives_from' some 'kidney' 'OKP' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/NCBITaxon_9267 http://www.ebi.ac.uk/efo/EFO_0022793 SVEC4-10 'SVEC4-10' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/CL_0002139 'SVEC4-10' SubClassOf 'cultured cell' 'SVEC4-10' SubClassOf 'derives_from' some 'cell type' 'SVEC4-10' SubClassOf 'derives_from' some 'lymph node' 'SVEC4-10' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022790 MC-1 'MC-1' SubClassOf 'cultured cell' 'MC-1' SubClassOf 'derives_from' some 'cell type' 'MC-1' SubClassOf 'derives_from' some 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022789 FL5.12 'FL5.12' SubClassOf 'cultured cell' 'FL5.12' SubClassOf 'derives_from' some 'Mus musculus' 'FL5.12' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022788 R9 'R9' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/CL_2000042 'R9' SubClassOf 'derives_from' some 'cell type' 'R9' SubClassOf 'derives_from' some 'embryo' 'R9' SubClassOf 'derives_from' some 'Rattus norvegicus' 'R9' SubClassOf 'rat cell line' http://www.ebi.ac.uk/efo/EFO_0022785 RT4-67 'RT4-67' SubClassOf 'derives_from' some 'Rattus norvegicus' 'RT4-67' SubClassOf 'derives_from' some 'peripheral nervous system' 'RT4-67' SubClassOf 'bearer_of' some 'schwannoma' 'RT4-67' SubClassOf 'derives_from' some 'cell type' 'RT4-67' SubClassOf 'cultured cell' 'RT4-67' SubClassOf 'derives_from' some 'Schwann cell' http://www.ebi.ac.uk/efo/EFO_0022784 3T6-Swiss albino cell '3T6-Swiss albino cell' SubClassOf 'embryonic cell line' '3T6-Swiss albino cell' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/CL_2000042 '3T6-Swiss albino cell' SubClassOf 'derives_from' some 'embryo' '3T6-Swiss albino cell' SubClassOf 'derives_from' some 'Mus musculus' '3T6-Swiss albino cell' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022787 L8057 'L8057' SubClassOf 'derives_from' some 'Mus musculus' 'L8057' SubClassOf 'derives_from' some 'megakaryocyte progenitor cell' 'L8057' SubClassOf 'derives_from' some 'cell type' 'L8057' SubClassOf 'bearer_of' some 'leukemia' 'L8057' SubClassOf 'cultured cell' http://www.ebi.ac.uk/efo/EFO_0022786 RT4 NF2.17 'RT4 NF2.17 ' SubClassOf 'cultured cell' 'RT4 NF2.17 ' SubClassOf 'bearer_of' some 'schwannoma' 'RT4 NF2.17 ' SubClassOf 'derives_from' some 'peripheral nervous system' 'RT4 NF2.17 ' SubClassOf 'derives_from' some 'cell type' 'RT4 NF2.17 ' SubClassOf 'derives_from' some 'Rattus norvegicus' 'RT4 NF2.17 ' SubClassOf 'derives_from' some 'Schwann cell' http://www.ebi.ac.uk/efo/EFO_0022781 McA-RH7777 'McA-RH7777' SubClassOf 'derives_from' some 'liver' 'McA-RH7777' SubClassOf 'derives_from' some 'Rattus norvegicus' 'McA-RH7777' SubClassOf 'derives_from' some 'cell type' 'McA-RH7777' SubClassOf 'hepatoma cell line' http://www.ebi.ac.uk/efo/EFO_0022780 Rat-2 'Rat-2' SubClassOf 'embryonic cell line' 'Rat-2' SubClassOf 'derives_from' some 'cell type' 'Rat-2' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/CL_2000042 'Rat-2' SubClassOf 'derives_from' some 'Rattus norvegicus' 'Rat-2' SubClassOf 'derives_from' some 'embryo' http://www.ebi.ac.uk/efo/EFO_0022783 BP8 'BP8' SubClassOf 'hepatoma cell line' 'BP8' SubClassOf 'derives_from' some 'liver' 'BP8' SubClassOf 'derives_from' some 'Rattus norvegicus' 'BP8' SubClassOf 'derives_from' some 'cell type' http://www.ebi.ac.uk/efo/EFO_0022782 CHO-K1 'CHO-K1' SubClassOf 'cultured cell' 'CHO-K1' SubClassOf 'derives_from' some 'ovary' 'CHO-K1' SubClassOf 'derives_from' some 'cell type' 'CHO-K1' SubClassOf 'derives_from' some 'Cricetulus griseus' http://purl.obolibrary.org/obo/MONDO_0010610 holoprosencephaly-hypokinesia-congenital contractures syndrome 'holoprosencephaly-hypokinesia-congenital contractures syndrome' SubClassOf 'congenital nervous system disorder' 'holoprosencephaly-hypokinesia-congenital contractures syndrome' SubClassOf 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009674 muscular dystrophy, adult-onset, with leukoencephalopathy 'muscular dystrophy, adult-onset, with leukoencephalopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009682 muscular dystrophy, congenital, with rapid progression 'muscular dystrophy, congenital, with rapid progression' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0024781 immunodeficiency 102 'immunodeficiency 102' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030430 spermatogenic failure 56 'spermatogenic failure 56' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030456 muscular dystrophy, limb-girdle, autosomal recessive 27 'muscular dystrophy, limb-girdle, autosomal recessive 27' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0030457 immunodeficiency 87 and autoimmunity 'immunodeficiency 87 and autoimmunity' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030476 Galloway-Mowat syndrome 10 'Galloway-Mowat syndrome 10' SubClassOf 'Galloway-Mowat syndrome' http://purl.obolibrary.org/obo/MONDO_0030471 Galloway-Mowat syndrome 9 'Galloway-Mowat syndrome 9' SubClassOf 'Galloway-Mowat syndrome' http://purl.obolibrary.org/obo/MONDO_0030462 Joubert syndrome 40 'Joubert syndrome 40' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0030465 cataract 49 'cataract 49' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0030490 oocyte maturation defect 11 'oocyte maturation defect 11' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0030492 spermatogenic failure 59 'spermatogenic failure 59' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030484 immunodeficiency 89 and autoimmunity 'immunodeficiency 89 and autoimmunity' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030318 spinocerebellar ataxia, autosomal recessive 30 'spinocerebellar ataxia, autosomal recessive 30' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0030307 spermatogenic failure 55 'spermatogenic failure 55' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030302 immunodeficiency 81 'immunodeficiency 81' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030338 anencephaly 2 'anencephaly 2' SubClassOf 'anencephaly' http://purl.obolibrary.org/obo/MONDO_0030333 immunodeficiency 84 'immunodeficiency 84' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030346 ciliary dyskinesia, primary, 47, and lissencephaly 'ciliary dyskinesia, primary, 47, and lissencephaly' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0030360 cholestasis, progressive familial intrahepatic, 6 'cholestasis, progressive familial intrahepatic, 6' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0020772 epilepsy, juvenile absence, susceptibility to, 1 'epilepsy, juvenile absence, susceptibility to, 1' SubClassOf 'epilepsy, juvenile absence, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0044300 familial adenomatous polyposis 4 'familial adenomatous polyposis 4' SubClassOf 'attenuated familial adenomatous polyposis' 'familial adenomatous polyposis 4' SubClassOf 'classic familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0034989 intellectual disability-cardiac anomalies-short stature-joint laxity syndrome 'intellectual disability-cardiac anomalies-short stature-joint laxity syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0001046 imperforate anus 'imperforate anus' SubClassOf 'disorder of development or morphogenesis' 'imperforate anus' SubClassOf 'anus disease' http://purl.obolibrary.org/obo/MONDO_0030989 spermatogenic failure 53 'spermatogenic failure 53' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030885 amyotrophic lateral sclerosis 26 with or without frontotemporal dementia 'amyotrophic lateral sclerosis 26 with or without frontotemporal dementia' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0030886 holoprosencephaly 14 'holoprosencephaly 14' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0030716 spermatogenic failure 66 'spermatogenic failure 66' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030718 spermatogenic failure 67 'spermatogenic failure 67' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030736 ovarian dysgenesis 10 'ovarian dysgenesis 10' SubClassOf '46 XX gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0054740 blepharocheilodontic syndrome 1 'blepharocheilodontic syndrome 1' SubClassOf 'blepharocheilodontic syndrome' http://purl.obolibrary.org/obo/MONDO_0030619 retinitis pigmentosa 92 'retinitis pigmentosa 92' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0030697 myopia 28, autosomal recessive 'myopia 28, autosomal recessive' SubClassOf 'refractive error' 'myopia 28, autosomal recessive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030513 dystonia 33 'dystonia 33' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0030506 ovarian dysgenesis 9 'ovarian dysgenesis 9' SubClassOf '46 XX gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0030505 cholestasis, progressive familial intrahepatic, 8 'cholestasis, progressive familial intrahepatic, 8' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0030537 central hypoventilation syndrome, congenital, 2, and autonomic dysfunction 'central hypoventilation syndrome, congenital, 2, and autonomic dysfunction' SubClassOf 'central hypoventilation syndrome, congenital' http://purl.obolibrary.org/obo/MONDO_0030522 spermatogenic failure 64 'spermatogenic failure 64' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0001927 pulmonary valve insufficiency 'pulmonary valve insufficiency' SubClassOf 'pulmonary valve disease' http://purl.obolibrary.org/obo/MONDO_0011331 congenital chylothorax 'congenital chylothorax' SubClassOf 'pleural disorder' 'congenital chylothorax' SubClassOf 'primary interstitial lung disease specific to childhood' http://purl.obolibrary.org/obo/MONDO_0025701 leukodystrophy, hypomyelinating, 22 'leukodystrophy, hypomyelinating, 22' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0002003 papilledema 'papilledema' SubClassOf 'optic nerve disorder' http://purl.obolibrary.org/obo/MONDO_0043765 presbycusis 'presbycusis' SubClassOf 'hearing loss'