4041 2441 3 http://www.ebi.ac.uk/efo/EFO_1000225 Duodenal Villous Adenoma 'Duodenal Villous Adenoma' EquivalentTo 'villous adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'duodenum') http://www.ebi.ac.uk/efo/EFO_1000222 Ductal or Ductular Proliferation 'Ductal or Ductular Proliferation' SubClassOf 'neoplasm' 'Ductal or Ductular Proliferation' SubClassOf 'biliary tract disease' 'Ductal or Ductular Proliferation' SubClassOf 'biliary tract neoplasm' http://www.ebi.ac.uk/efo/EFO_1000223 Duodenal Adenocarcinoma 'Duodenal Adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'duodenum') http://www.ebi.ac.uk/efo/EFO_1000220 Disseminated Peritoneal Leiomyomatosis 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'bearer_of' some 'disseminated' 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 http://purl.obolibrary.org/obo/RO_0004026 some 'T cell' http://www.ebi.ac.uk/efo/EFO_1000236 Endometrial Mucinous Adenocarcinoma 'Endometrial Mucinous Adenocarcinoma' EquivalentTo 'mucinous carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') http://www.ebi.ac.uk/efo/EFO_1000231 Endometrial Clear Cell Adenocarcinoma 'Endometrial Clear Cell Adenocarcinoma' EquivalentTo 'clear cell adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') http://www.ebi.ac.uk/efo/EFO_1000230 Endolymphatic Sac Tumor 'Endolymphatic Sac Tumor' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002223 'Endolymphatic Sac Tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002223) http://www.ebi.ac.uk/efo/EFO_1000239 Endometrial Small Cell Carcinoma 'Endometrial Small Cell Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') http://www.ebi.ac.uk/efo/EFO_1000237 Endometrial Polyp 'Endometrial Polyp' SubClassOf 'endometrial disorder' 'Endometrial Polyp' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') 'Endometrial Polyp' SubClassOf 'endometrium neoplasm' http://www.ebi.ac.uk/efo/EFO_1000238 Endometrial Serous Adenocarcinoma 'Endometrial Serous Adenocarcinoma' SubClassOf 'female reproductive system disease' 'Endometrial Serous Adenocarcinoma' SubClassOf 'female reproductive system neoplasm' 'Endometrial Serous Adenocarcinoma' SubClassOf 'reproductive system cancer' http://www.ebi.ac.uk/efo/EFO_1000246 Ethmoid Sinus Adenoid Cystic Carcinoma 'Ethmoid Sinus Adenoid Cystic Carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002453) http://www.ebi.ac.uk/efo/EFO_1000247 Extrahepatic Bile Duct Adenosquamous Carcinoma 'Extrahepatic Bile Duct Adenosquamous Carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003703) http://www.ebi.ac.uk/efo/EFO_1000244 Epithelioid Cell Uveal Melanoma 'Epithelioid Cell Uveal Melanoma' EquivalentTo 'epithelioid cell melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001768) http://www.ebi.ac.uk/efo/EFO_1000242 Endometrial Undifferentiated Carcinoma 'Endometrial Undifferentiated Carcinoma' EquivalentTo 'undifferentiated carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') http://www.ebi.ac.uk/efo/EFO_1000240 Endometrial Squamous Cell Carcinoma 'Endometrial Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') http://www.ebi.ac.uk/efo/EFO_1000248 Extrahepatic Bile Duct Squamous Cell Carcinoma 'Extrahepatic Bile Duct Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003703) http://purl.obolibrary.org/obo/UBERON_0002451 endometrial gland 'endometrial gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0003134 'endometrial gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 http://www.ebi.ac.uk/efo/EFO_1000255 Fibroblastic Neoplasm 'Fibroblastic Neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'fibroblast' http://www.ebi.ac.uk/efo/EFO_1000253 Fallopian Tube Serous Adenocarcinoma 'Fallopian Tube Serous Adenocarcinoma' EquivalentTo 'serous adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'fallopian tube') http://www.ebi.ac.uk/efo/EFO_1000251 Fallopian Tube Carcinoma 'Fallopian Tube Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'fallopian tube') http://www.ebi.ac.uk/efo/EFO_1000252 Fallopian Tube Carcinosarcoma 'Fallopian Tube Carcinosarcoma' EquivalentTo 'carcinosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'fallopian tube') http://www.orpha.net/ORDO/Orphanet_322126 Genetic tumor of hematopoietic and lymphoid tissues 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'hematologic disease' 'Genetic tumor of hematopoietic and lymphoid tissues' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000260 Floor of Mouth Mucoepidermoid Carcinoma 'Floor of Mouth Mucoepidermoid Carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mouth floor') http://www.ebi.ac.uk/efo/EFO_1000268 Gastric Adenoma 'Gastric Adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_1000269 Gastric Choriocarcinoma 'Gastric Choriocarcinoma' SubClassOf 'reproductive system cancer' 'Gastric Choriocarcinoma' EquivalentTo 'choriocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_1000266 Gallbladder Small Cell Neuroendocrine Carcinoma 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'hereditary gallbladder disorder' 'Gallbladder Small Cell Neuroendocrine Carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0015072 'Gallbladder Small Cell Neuroendocrine Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') http://www.ebi.ac.uk/efo/EFO_1000267 Gallbladder Squamous Cell Carcinoma 'Gallbladder Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') 'Gallbladder Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma of liver and intrahepatic biliary tract' http://www.ebi.ac.uk/efo/EFO_1000264 Gallbladder Adenosquamous Carcinoma 'Gallbladder Adenosquamous Carcinoma' SubClassOf 'liver adenosquamous carcinoma' 'Gallbladder Adenosquamous Carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') http://www.ebi.ac.uk/efo/EFO_1000262 Gallbladder Adenocarcinoma 'Gallbladder Adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') http://www.ebi.ac.uk/efo/EFO_1000263 Gallbladder Adenoma 'Gallbladder Adenoma' SubClassOf 'hereditary gallbladder disorder' 'Gallbladder Adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') http://purl.obolibrary.org/obo/UBERON_0002407 pericardium 'pericardium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0015410 http://www.ebi.ac.uk/efo/EFO_1000271 Gastric Hamartomatous Polyp 'Gastric Hamartomatous Polyp' EquivalentTo 'hamartoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_1000272 Gastric Mantle Cell Lymphoma 'Gastric Mantle Cell Lymphoma' SubClassOf 'immune system cancer' 'Gastric Mantle Cell Lymphoma' SubClassOf 'lymphatic system cancer' 'Gastric Mantle Cell Lymphoma' EquivalentTo 'Mantle cell lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://purl.obolibrary.org/obo/UBERON_0002405 immune system http://purl.obolibrary.org/obo/UBERON_0002330 DisjointWith 'immune system' http://www.ebi.ac.uk/efo/EFO_1000277 Gastric Small Cell Neuroendocrine Carcinoma 'Gastric Small Cell Neuroendocrine Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_1000278 Gastric Squamous Cell Carcinoma 'Gastric Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_1000275 Gastric Neuroendocrine Tumor G1 'Gastric Neuroendocrine Tumor G1' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://www.ebi.ac.uk/efo/EFO_1000276 Gastric Papillary Adenocarcinoma 'Gastric Papillary Adenocarcinoma' EquivalentTo 'papillary adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_1000274 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' EquivalentTo 'MALT lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'hereditary gastric cancer' http://www.ebi.ac.uk/efo/EFO_1000282 Gonadal Teratoma 'Gonadal Teratoma' SubClassOf 'ovarian disease' 'Gonadal Teratoma' SubClassOf 'testicular disease' 'Gonadal Teratoma' SubClassOf 'Ovarian Germ Cell Tumor' 'Gonadal Teratoma' SubClassOf 'Testicular Germ Cell Tumor' http://www.ebi.ac.uk/efo/EFO_1000283 Grade III Prostatic Intraepithelial Neoplasia 'Grade III Prostatic Intraepithelial Neoplasia' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://purl.obolibrary.org/obo/UBERON_0002416 integumental system http://purl.obolibrary.org/obo/UBERON_0002330 DisjointWith 'integumental system' http://www.ebi.ac.uk/efo/EFO_1000288 Head and Neck Paraganglioma 'Head and Neck Paraganglioma' EquivalentTo 'Paraganglioma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007811) http://www.ebi.ac.uk/efo/EFO_1000289 Hemangiopericytic Neoplasm 'Hemangiopericytic Neoplasm' SubClassOf 'vascular neoplasm' http://www.ebi.ac.uk/efo/EFO_1000287 Growth Hormone-Producing Pituitary Gland Adenoma 'Growth Hormone-Producing Pituitary Gland Adenoma' EquivalentTo 'adenoma' and ('realized in' some 'growth hormone secretion') and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') http://www.ebi.ac.uk/efo/EFO_1000285 Granular Cell Tumor of the Neurohypophysis 'Granular Cell Tumor of the Neurohypophysis' EquivalentTo 'Granular Cell Tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'neurohypophysis') http://purl.obolibrary.org/obo/UBERON_0002412 vertebra 'vertebra' SubClassOf 'part of' some 'skeletal system' 'vertebra' SubClassOf 'part of' some 'anatomical system' 'vertebra' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001130 http://www.ebi.ac.uk/efo/EFO_1000293 Hepatoid Adenocarcinoma 'Hepatoid Adenocarcinoma' SubClassOf 'liver disease' 'Hepatoid Adenocarcinoma' SubClassOf 'Digestive System Carcinoma' 'Hepatoid Adenocarcinoma' SubClassOf 'Hepatobiliary Neoplasm' 'Hepatoid Adenocarcinoma' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/UBERON_0002428 limb bone 'limb bone' SubClassOf 'part of' some 'skeletal system' 'limb bone' SubClassOf 'part of' some 'anatomical system' http://www.ebi.ac.uk/efo/EFO_1000299 Hyperplastic Polyp 'Hyperplastic Polyp' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system' http://purl.obolibrary.org/obo/UBERON_0002423 hepatobiliary system http://purl.obolibrary.org/obo/UBERON_0002330 DisjointWith 'hepatobiliary system' http://purl.obolibrary.org/obo/UBERON_0002420 basal ganglion 'basal ganglion' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0010011 http://www.ebi.ac.uk/efo/EFO_0000402 diffuse gastric adenocarcinoma 'diffuse gastric adenocarcinoma' SubClassOf 'disease has feature' some 'leather-bottle stomach' 'diffuse gastric adenocarcinoma' EquivalentTo 'diffuse type adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_0000405 digestive system disease 'digestive system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'alimentary part of gastrointestinal system' 'digestive system disease' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0000432 breast ductal carcinoma in situ 'breast ductal carcinoma in situ' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001765) http://purl.obolibrary.org/obo/MONDO_0021501 benign neoplasm of small intestine 'benign neoplasm of small intestine' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://purl.obolibrary.org/obo/MONDO_0021506 benign neoplasm of spinal cord 'benign neoplasm of spinal cord' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spinal cord') http://www.ebi.ac.uk/efo/EFO_1000203 Conjunctival Disorder 'Conjunctival Disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'conjunctiva' 'Conjunctival Disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'conjunctiva') http://www.ebi.ac.uk/efo/EFO_1000201 Common Hematopoietic Neoplasm 'Common Hematopoietic Neoplasm' SubClassOf 'neoplasm' 'Common Hematopoietic Neoplasm' SubClassOf 'hematologic disease' 'Common Hematopoietic Neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://www.ebi.ac.uk/efo/EFO_0000478 esophageal adenocarcinoma 'esophageal adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://www.ebi.ac.uk/efo/EFO_0000479 essential thrombocythemia 'essential thrombocythemia' SubClassOf 'familial thrombocytosis' 'essential thrombocythemia' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_1000208 Cortisol-Producing Adrenal Cortex Adenoma 'Cortisol-Producing Adrenal Cortex Adenoma' SubClassOf 'realized in' some 'cortisol secretion' 'Cortisol-Producing Adrenal Cortex Adenoma' EquivalentTo 'adrenocortical adenoma' and ('realized in' some 'cortisol secretion') http://www.ebi.ac.uk/efo/EFO_1000209 Craniopharyngioma 'Craniopharyngioma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' 'Craniopharyngioma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003689 http://www.ebi.ac.uk/efo/EFO_1000206 Conjunctival Squamous Cell Carcinoma 'Conjunctival Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'conjunctiva') http://www.ebi.ac.uk/efo/EFO_1000204 Conjunctival Melanoma 'Conjunctival Melanoma' EquivalentTo 'melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'conjunctiva') http://purl.obolibrary.org/obo/MONDO_0021525 benign neoplasm of corpus uteri 'benign neoplasm of corpus uteri' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0021510 benign neoplasm of prostate 'benign neoplasm of prostate' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://purl.obolibrary.org/obo/MONDO_0021511 benign neoplasm of adrenal gland 'benign neoplasm of adrenal gland' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002369) 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_1000212 Cutaneous Undifferentiated Pleomorphic Sarcoma 'Cutaneous Undifferentiated Pleomorphic Sarcoma' EquivalentTo 'undifferentiated pleomorphic sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://www.ebi.ac.uk/efo/EFO_0000465 endocarditis 'endocarditis' EquivalentTo 'disease' and ('disease has inflammation site' some 'endocardium') 'endocarditis' SubClassOf 'disease has inflammation site' some 'endocardium' http://www.ebi.ac.uk/efo/EFO_1000210 Cribriform Carcinoma 'Cribriform Carcinoma' SubClassOf 'breast disease' 'Cribriform Carcinoma' SubClassOf 'breast carcinoma' http://www.ebi.ac.uk/efo/EFO_1000217 Digestive System Adenoma 'Digestive System Adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001555) 'Digestive System Adenoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001555 http://www.ebi.ac.uk/efo/EFO_1000218 Digestive System Carcinoma 'Digestive System Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system') http://www.ebi.ac.uk/efo/EFO_0000373 congestive heart failure 'congestive heart failure' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001635 'congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0008015 http://purl.obolibrary.org/obo/MONDO_0021546 ependymal tumor of spinal cord 'ependymal tumor of spinal cord' EquivalentTo 'ependymal neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spinal cord') http://www.orpha.net/ORDO/Orphanet_1396 Cerebro-reno-digital syndrome 'Cerebro-reno-digital syndrome' SubClassOf 'inherited kidney disorder' 'Cerebro-reno-digital syndrome' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0021533 intestinal neuroendocrine tumor G1 'intestinal neuroendocrine tumor G1' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://www.ebi.ac.uk/efo/EFO_0000364 colon mucinous adenocarcinoma 'colon mucinous adenocarcinoma' EquivalentTo 'mucinous carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma 'colorectal adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colorectum') http://purl.obolibrary.org/obo/MONDO_0021539 hamartoma of skin appendage 'hamartoma of skin appendage' EquivalentTo 'hamartoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000021) http://www.ebi.ac.uk/efo/EFO_0000398 dermatomyositis 'dermatomyositis' EquivalentTo 'disease' and ('disease has inflammation site' some 'zone of skin') and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002385) 'dermatomyositis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'musculature' http://purl.obolibrary.org/obo/MONDO_0021553 transverse myelitis 'transverse myelitis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0000384 Crohn's disease 'Crohn's disease' SubClassOf 'disease has feature' some 'constipation disorder' 'Crohn's disease' SubClassOf 'disease has feature' some 'gingivitis' 'Crohn's disease' SubClassOf 'disease has feature' some 'dysentery' http://www.ebi.ac.uk/efo/EFO_0000389 cutaneous melanoma 'cutaneous melanoma' EquivalentTo 'melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/HP_0004390 Hamartomatous polyposis 'Hamartomatous polyposis' SubClassOf http://purl.obolibrary.org/obo/HP_0010566 http://purl.obolibrary.org/obo/MONDO_0021581 connective tissue neoplasm 'connective tissue neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'connective tissue') 'connective tissue neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'connective tissue' http://purl.obolibrary.org/obo/MONDO_0021583 melanocytic skin neoplasm 'melanocytic skin neoplasm' EquivalentTo 'melanocytic neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0021580 neoplasm of jaw 'neoplasm of jaw' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001708 'neoplasm of jaw' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001708) http://www.orpha.net/ORDO/Orphanet_1344 Atrial stand still 'Atrial stand still' SubClassOf 'familial cardiomyopathy' 'Atrial stand still' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/GO_0009856 pollination 'pollination' SubClassOf 'part of' some 'reproduction' 'pollination' SubClassOf 'biological_process' 'pollination' SubClassOf http://purl.obolibrary.org/obo/GO_0022414 http://www.ebi.ac.uk/efo/EFO_1000182 Colon Burkitt Lymphoma 'Colon Burkitt Lymphoma' SubClassOf 'immune system cancer' 'Colon Burkitt Lymphoma' SubClassOf 'familial colorectal cancer' 'Colon Burkitt Lymphoma' SubClassOf 'lymphatic system cancer' 'Colon Burkitt Lymphoma' EquivalentTo 'Burkitts lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://www.ebi.ac.uk/efo/EFO_1000193 Colorectal Hamartoma 'Colorectal Hamartoma' EquivalentTo 'hamartoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colorectum') http://www.ebi.ac.uk/efo/EFO_1000190 Colorectal Adenosquamous Carcinoma 'Colorectal Adenosquamous Carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colorectum') http://www.ebi.ac.uk/efo/EFO_1000191 Colorectal Diffuse Large B-Cell Lymphoma 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'immune system cancer' 'Colorectal Diffuse Large B-Cell Lymphoma' EquivalentTo 'diffuse large B-cell lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colorectum') 'Colorectal Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphatic system cancer' http://www.ebi.ac.uk/efo/EFO_1000198 Colorectal Squamous Cell Carcinoma 'Colorectal Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colorectum') http://www.orpha.net/ORDO/Orphanet_1331 Familial prostate cancer 'Familial prostate cancer' SubClassOf 'familial prostate carcinoma' 'Familial prostate cancer' SubClassOf 'prostate carcinoma' http://www.orpha.net/ORDO/Orphanet_371176 Congenital disorder of glycosylation with dilated cardiomyopathy 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Congenital disorder of glycosylation with dilated cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1000345 Major Salivary Gland Carcinoma ex Pleomorphic Adenoma 'Major Salivary Gland Carcinoma ex Pleomorphic Adenoma' EquivalentTo 'carcinoma ex pleomorphic adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001829) http://www.ebi.ac.uk/efo/EFO_1000346 Major Salivary Gland Mucoepidermoid Carcinoma 'Major Salivary Gland Mucoepidermoid Carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001829) http://www.ebi.ac.uk/efo/EFO_1000344 Major Salivary Gland Carcinoma 'Major Salivary Gland Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001829) http://www.ebi.ac.uk/efo/EFO_1000349 Malignant Bladder Paraganglioma 'Malignant Bladder Paraganglioma' SubClassOf 'urinary system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000356 Malignant Mixed Neoplasm 'Malignant Mixed Neoplasm' SubClassOf 'cancer' 'Malignant Mixed Neoplasm' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1000354 Malignant Laryngeal Neoplasm 'Malignant Laryngeal Neoplasm' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'larynx') http://www.ebi.ac.uk/efo/EFO_1000355 Malignant Mesothelioma 'Malignant Mesothelioma' SubClassOf 'cancer' 'Malignant Mesothelioma' SubClassOf 'respiratory system disease' 'Malignant Mesothelioma' SubClassOf 'respiratory system cancer' http://www.ebi.ac.uk/efo/EFO_1000353 Malignant Jugulotympanic Paraganglioma 'Malignant Jugulotympanic Paraganglioma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0034972 'Malignant Jugulotympanic Paraganglioma' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0034972) http://www.ebi.ac.uk/efo/EFO_1000350 Malignant Bone Neoplasm 'Malignant Bone Neoplasm' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004765) 'Malignant Bone Neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004765 http://www.ebi.ac.uk/efo/EFO_1000359 Malignant Pancreatic Neoplasm 'Malignant Pancreatic Neoplasm' SubClassOf 'disease has feature' some 'acute pancreatitis' 'Malignant Pancreatic Neoplasm' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas') http://www.ebi.ac.uk/efo/EFO_1000367 Mediastinal Neuroblastoma 'Mediastinal Neuroblastoma' EquivalentTo 'neuroblastoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum') http://www.ebi.ac.uk/efo/EFO_1000365 Maxillary Sinus Adenoid Cystic Carcinoma 'Maxillary Sinus Adenoid Cystic Carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001764) http://www.ebi.ac.uk/efo/EFO_1000363 Malignant Urinary System Neoplasm 'Malignant Urinary System Neoplasm' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal system') http://www.ebi.ac.uk/efo/EFO_1000364 Mast Cell Sarcoma 'Mast Cell Sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mast cell') 'Mast Cell Sarcoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mast cell' http://www.ebi.ac.uk/efo/EFO_1000362 Malignant Pleural Neoplasm 'Malignant Pleural Neoplasm' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pleura') http://purl.obolibrary.org/obo/UBERON_0002349 myocardium 'myocardium' SubClassOf 'heart component' 'myocardium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005983 http://www.ebi.ac.uk/efo/EFO_1000378 Middle Ear Squamous Cell Carcinoma 'Middle Ear Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'middle ear') http://www.ebi.ac.uk/efo/EFO_1000379 Minor Salivary Gland Adenocarcinoma 'Minor Salivary Gland Adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'minor salivary gland') http://www.ebi.ac.uk/efo/EFO_1000388 Myelodysplastic/Myeloproliferative Neoplasm 'Myelodysplastic/Myeloproliferative Neoplasm' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_1000385 Mixed Tumor of the Skin 'Mixed Tumor of the Skin' EquivalentTo 'mixed neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eccrine sweat gland') http://www.ebi.ac.uk/efo/EFO_1000386 Mucinous Gastric Adenocarcinoma 'Mucinous Gastric Adenocarcinoma' EquivalentTo 'mucinous carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_1000383 Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'central nervous system disease' 'Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma' SubClassOf 'Central Nervous System Neoplasm' http://www.ebi.ac.uk/efo/EFO_1000384 Mixed Tumor of the Salivary Gland 'Mixed Tumor of the Salivary Gland' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://www.ebi.ac.uk/efo/EFO_1000391 Nasal Cavity Polyp 'Nasal Cavity Polyp' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nasal cavity') http://www.ebi.ac.uk/efo/EFO_1000399 Non-Functioning Adrenal Cortex Adenoma 'Non-Functioning Adrenal Cortex Adenoma' EquivalentTo 'non-functioning endocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal cortex') http://www.ebi.ac.uk/efo/EFO_1000396 Nevus of Ota 'Nevus of Ota' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000395 Nevus of Ito 'Nevus of Ito' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0800044 congenital disorder of deglycosylation 1 'congenital disorder of deglycosylation 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0002394 bile duct 'bile duct' SubClassOf 'anatomical structure' 'bile duct' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001173 'bile duct' EquivalentTo http://purl.obolibrary.org/obo/UBERON_0000058 and ('part of' some http://purl.obolibrary.org/obo/UBERON_0001173) 'bile duct' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000058 http://purl.obolibrary.org/obo/UBERON_0002390 hematopoietic system http://purl.obolibrary.org/obo/UBERON_0002330 DisjointWith 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma 'carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'epithelial cell' http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy 'cardiomyopathy' SubClassOf 'bearer_of' some 'rare' 'cardiomyopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001133 http://www.ebi.ac.uk/efo/EFO_0000319 cardiovascular disease 'cardiovascular disease' SubClassOf 'in taxon' some 'Homo sapiens' 'cardiovascular disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'cardiovascular system' http://purl.obolibrary.org/obo/HP_0004308 Ventricular arrhythmia 'Ventricular arrhythmia' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'Ventricular arrhythmia' SubClassOf http://purl.obolibrary.org/obo/HP_0011675 http://www.ebi.ac.uk/efo/EFO_0000304 breast adenocarcinoma 'breast adenocarcinoma' SubClassOf 'integumentary system cancer' 'breast adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') 'breast adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mammary gland' http://www.ebi.ac.uk/efo/EFO_0000305 breast carcinoma 'breast carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://purl.obolibrary.org/obo/HP_0004315 Decreased circulating IgG level 'Decreased circulating IgG level' SubClassOf 'Abnormality of the immune system' 'Decreased circulating IgG level' SubClassOf 'Abnormal cellular physiology' 'Decreased circulating IgG level' SubClassOf 'Abnormality of blood and blood-forming tissues' 'Decreased circulating IgG level' SubClassOf http://purl.obolibrary.org/obo/HP_0004313 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 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0000333 chondrosarcoma 'chondrosarcoma' SubClassOf 'bone disease' 'chondrosarcoma' SubClassOf 'has_disease_location' some 'bone element' http://www.ebi.ac.uk/efo/EFO_1000309 Juvenile Myelomonocytic Leukemia 'Juvenile Myelomonocytic Leukemia' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/UBERON_0002350 conducting system of heart 'conducting system of heart' SubClassOf 'part of' some 'musculature' 'conducting system of heart' SubClassOf 'part of' some 'multicellular organism' 'conducting system of heart' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001133 http://purl.obolibrary.org/obo/UBERON_0002358 peritoneum 'peritoneum' SubClassOf 'anatomical structure' 'peritoneum' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000042 http://purl.obolibrary.org/obo/UBERON_0002352 atrioventricular node 'atrioventricular node' SubClassOf 'part of' some 'multicellular organism' 'atrioventricular node' SubClassOf 'part of' some 'musculature' 'atrioventricular node' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001133 http://www.orpha.net/ORDO/Orphanet_1195 Congenital atransferrinemia 'Congenital atransferrinemia' SubClassOf 'inborn errors of metabolism' 'Congenital atransferrinemia' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0000326 central nervous system cancer 'central nervous system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://www.ebi.ac.uk/efo/EFO_1000318 Langerhans Cell Histiocytosis 'Langerhans Cell Histiocytosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004025 some 'Langerhans cell' 'Langerhans Cell Histiocytosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'Langerhans cell' http://www.ebi.ac.uk/efo/EFO_1000319 Laryngeal Adenoid Cystic Carcinoma 'Laryngeal Adenoid Cystic Carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'larynx') http://www.ebi.ac.uk/efo/EFO_1000316 Krukenberg Tumor 'Krukenberg Tumor' EquivalentTo 'metastatic carcinoma' and ('disease arises from feature' some 'signet ring cell carcinoma') and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000317 Lacrimal Gland Adenoid Cystic Carcinoma 'Lacrimal Gland Adenoid Cystic Carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lacrimal gland') http://www.ebi.ac.uk/efo/EFO_1000314 Kidney Medullary Carcinoma 'Kidney Medullary Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal medulla') 'Kidney Medullary Carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'renal medulla' http://purl.obolibrary.org/obo/MONDO_0021400 polyp of colon 'polyp of colon' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://www.ebi.ac.uk/efo/EFO_0000350 clear cell sarcoma of the kidney 'clear cell sarcoma of the kidney' EquivalentTo 'clear cell sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://www.ebi.ac.uk/efo/EFO_1000323 Liver Diffuse Large B-Cell Lymphoma 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'immune system cancer' 'Liver Diffuse Large B-Cell Lymphoma' EquivalentTo 'diffuse large B-cell lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') 'Liver Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphatic system cancer' http://www.ebi.ac.uk/efo/EFO_1000320 Laryngeal Small Cell Carcinoma 'Laryngeal Small Cell Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'larynx') http://purl.obolibrary.org/obo/UBERON_0002370 thymus 'thymus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005057 http://purl.obolibrary.org/obo/UBERON_0002372 tonsil 'tonsil' SubClassOf 'lymphoid tissue' 'tonsil' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001735 'tonsil' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001961 'tonsil' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://www.ebi.ac.uk/efo/EFO_1000327 Low Grade Central Osteosarcoma 'Low Grade Central Osteosarcoma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' 'Low Grade Central Osteosarcoma' EquivalentTo 'osteosarcoma' and ('bearer_of' some 'tumor grade 1, general grading system') http://www.ebi.ac.uk/efo/EFO_1000328 Low Grade Fibromyxoid Sarcoma 'Low Grade Fibromyxoid Sarcoma' EquivalentTo 'fibrosarcoma' and ('bearer_of' some 'tumor grade 1, general grading system') 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://www.ebi.ac.uk/efo/EFO_1000325 Liver Neuroendocrine Tumor 'Liver Neuroendocrine Tumor' SubClassOf 'endocrine neoplasm' 'Liver Neuroendocrine Tumor' SubClassOf 'liver disease' 'Liver Neuroendocrine Tumor' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/UBERON_0002374 metacarpal bone 'metacarpal bone' SubClassOf 'part of' some 'skeletal system' 'metacarpal bone' SubClassOf 'part of' some 'anatomical system' 'metacarpal bone' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002495 'metacarpal bone' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002398 http://purl.obolibrary.org/obo/UBERON_0002376 cranial muscle 'cranial muscle' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 http://www.ebi.ac.uk/efo/EFO_1000334 Lung Lymphangioleiomyomatosis 'Lung Lymphangioleiomyomatosis' SubClassOf 'bearer_of' some 'rare' 'Lung Lymphangioleiomyomatosis' EquivalentTo 'lymphangioleiomyomatosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_1000335 Lung Papilloma 'Lung Papilloma' EquivalentTo 'papilloma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_1000333 Lung Inflammatory Myofibroblastic Tumor 'Lung Inflammatory Myofibroblastic Tumor' EquivalentTo 'inflammatory myofibroblastic tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_1000330 Low Grade Vulvar Intraepithelial Neoplasia 'Low Grade Vulvar Intraepithelial Neoplasia' EquivalentTo 'vulvar intraepithelial neoplasia' and ('bearer_of' some 'tumor grade 1, general grading system') 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://www.ebi.ac.uk/efo/EFO_0000349 clear cell renal carcinoma 'clear cell renal carcinoma' EquivalentTo 'clear cell adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://www.ebi.ac.uk/efo/EFO_1000338 Lung Signet Ring Cell Carcinoma 'Lung Signet Ring Cell Carcinoma' EquivalentTo 'signet ring cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_1000339 Lymphangiosarcoma 'Lymphangiosarcoma' SubClassOf 'lymphatic system disease' 'Lymphangiosarcoma' SubClassOf 'lymphatic system cancer' 'Lymphangiosarcoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'endothelial cell' 'Lymphangiosarcoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/CL_0002138 http://www.ebi.ac.uk/efo/EFO_1000336 Lung Sarcomatoid Carcinoma 'Lung Sarcomatoid Carcinoma' EquivalentTo 'Sarcomatoid Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0021416 polyp of gallbladder 'polyp of gallbladder' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') http://purl.obolibrary.org/obo/MONDO_0021440 benign neoplasm of skin 'benign neoplasm of skin' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0021444 benign neoplasm of large intestine 'benign neoplasm of large intestine' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'large intestine') http://www.ebi.ac.uk/efo/EFO_0000272 astrocytoma 'astrocytoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'astrocyte' http://purl.obolibrary.org/obo/MONDO_0021445 benign neoplasm of oral cavity 'benign neoplasm of oral cavity' SubClassOf 'benign neoplasm' 'benign neoplasm of oral cavity' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000167) 'benign neoplasm of oral cavity' SubClassOf 'benign digestive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0000275 atrial fibrillation 'atrial fibrillation' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'cardiac atrium' http://www.ebi.ac.uk/efo/EFO_0000278 pancreatitis 'pancreatitis' SubClassOf 'disease has inflammation site' some 'pancreas' 'pancreatitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'pancreas') http://www.ebi.ac.uk/efo/EFO_0000279 azoospermia 'azoospermia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'sperm' http://purl.obolibrary.org/obo/MONDO_0021449 benign neoplasm of stomach 'benign neoplasm of stomach' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://purl.obolibrary.org/obo/MONDO_0021439 benign neoplasm of pituitary gland 'benign neoplasm of pituitary gland' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') http://purl.obolibrary.org/obo/MONDO_0021460 benign neoplasm of salivary gland 'benign neoplasm of salivary gland' SubClassOf 'benign neoplasm' 'benign neoplasm of salivary gland' SubClassOf 'benign digestive system neoplasm' 'benign neoplasm of salivary gland' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://purl.obolibrary.org/obo/MONDO_0021462 benign neoplasm of rectum 'benign neoplasm of rectum' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://purl.obolibrary.org/obo/MONDO_0021463 benign neoplasm of parathyroid gland 'benign neoplasm of parathyroid gland' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parathyroid gland') http://www.ebi.ac.uk/efo/EFO_0000294 bladder tumor 'bladder tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') http://purl.obolibrary.org/obo/MONDO_0021468 benign neoplasm of adrenal medulla 'benign neoplasm of adrenal medulla' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal medulla') http://purl.obolibrary.org/obo/MONDO_0021469 benign neoplasm of anus 'benign neoplasm of anus' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245) http://purl.obolibrary.org/obo/MONDO_0021450 benign neoplasm of heart 'benign neoplasm of heart' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'heart') http://purl.obolibrary.org/obo/MONDO_0021452 benign neoplasm of cornea 'benign neoplasm of cornea' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cornea') http://purl.obolibrary.org/obo/MONDO_0021454 benign neoplasm of eye 'benign neoplasm of eye' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyeball of camera-type eye') http://www.ebi.ac.uk/efo/EFO_0000284 benign prostatic hyperplasia 'benign prostatic hyperplasia' EquivalentTo 'hyperplasia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://www.orpha.net/ORDO/Orphanet_1243 Best vitelliform macular dystrophy 'Best vitelliform macular dystrophy' SubClassOf 'Retinal dystrophy' 'Best vitelliform macular dystrophy' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0021487 benign neoplasm of choroid 'benign neoplasm of choroid' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001776) http://purl.obolibrary.org/obo/MONDO_0021489 benign neoplasm of sweat gland 'benign neoplasm of sweat gland' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sweat gland') http://purl.obolibrary.org/obo/MONDO_0021474 benign neoplasm of ear 'benign neoplasm of ear' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ear') http://purl.obolibrary.org/obo/MONDO_0021476 benign neoplasm of tongue 'benign neoplasm of tongue' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'tongue') 'benign neoplasm of tongue' SubClassOf 'benign digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021470 benign neoplasm of pancreas 'benign neoplasm of pancreas' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas') http://purl.obolibrary.org/obo/MONDO_0021496 benign neoplasm of lip 'benign neoplasm of lip' SubClassOf 'benign neoplasm' 'benign neoplasm of lip' SubClassOf 'benign digestive system neoplasm' 'benign neoplasm of lip' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001833) http://purl.obolibrary.org/obo/MONDO_0021497 benign neoplasm of cerebrum 'benign neoplasm of cerebrum' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'telencephalon') 'benign neoplasm of cerebrum' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'telencephalon' http://purl.obolibrary.org/obo/MONDO_0021499 benign neoplasm of cerebellum 'benign neoplasm of cerebellum' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebellum') http://purl.obolibrary.org/obo/GO_0034654 nucleobase-containing compound biosynthetic process 'nucleobase-containing compound biosynthetic process' SubClassOf 'cellular nitrogen compound biosynthetic process' http://purl.obolibrary.org/obo/UBERON_0002203 vasculature of eye 'vasculature of eye' EquivalentTo 'vasculature' and ('part of' some http://purl.obolibrary.org/obo/UBERON_0000019) 'vasculature of eye' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000019 http://purl.obolibrary.org/obo/UBERON_0002204 musculoskeletal system 'musculoskeletal system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_0002227 spiral organ of cochlea 'spiral organ of cochlea' SubClassOf 'part of' some 'sensory system' 'spiral organ of cochlea' SubClassOf 'part of' some 'anatomical system' 'spiral organ of cochlea' SubClassOf 'anatomical structure' 'spiral organ of cochlea' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000020 http://purl.obolibrary.org/obo/UBERON_0002228 rib 'rib' SubClassOf 'part of' some 'anatomical system' 'rib' SubClassOf 'part of' some 'skeletal system' http://www.ebi.ac.uk/efo/EFO_1000014 acidosis 'acidosis' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001941 'acidosis' EquivalentTo 'metabolic disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0001941) http://www.ebi.ac.uk/efo/EFO_1000019 breast synovial sarcoma 'breast synovial sarcoma' EquivalentTo 'synovial sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://www.ebi.ac.uk/efo/EFO_1000018 bladder disease 'bladder disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') 'bladder disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder' http://www.ebi.ac.uk/efo/EFO_1000026 diffuse intrinsic pontine glioma 'diffuse intrinsic pontine glioma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pons' http://www.ebi.ac.uk/efo/EFO_1000025 cystitis 'cystitis' SubClassOf 'disease has inflammation site' some 'urinary bladder' 'cystitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'urinary bladder') http://www.ebi.ac.uk/efo/EFO_1000020 cecum adenocarcinoma 'cecum adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'caecum') http://www.ebi.ac.uk/efo/EFO_1000021 cecum carcinoma 'cecum carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'caecum') http://www.ebi.ac.uk/efo/EFO_0000612 myocardial infarction 'myocardial infarction' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'heart' 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_0000618 nervous system disease 'nervous system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'nervous system' 'nervous system disease' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_1000028 ependymoma 'ependymoma' EquivalentTo 'ependymal neoplasm' and ('bearer_of' some 'tumor grade 2, general grading system') http://www.ebi.ac.uk/efo/EFO_1000029 gastric adenosquamous carcinoma 'gastric adenosquamous carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_1000030 gastric tubular adenocarcinoma 'gastric tubular adenocarcinoma' EquivalentTo 'tubular adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_1000037 lung carcinoid tumor 'lung carcinoid tumor' EquivalentTo 'carcinoid tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_1000035 infectious colitis 'infectious colitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'colon') 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' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'granulosa cell') 'granulosa cell tumor' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'granulosa cell' http://www.ebi.ac.uk/efo/EFO_1000039 meningeal tuberculosis 'meningeal tuberculosis' EquivalentTo 'tuberculosis' and 'meningitis' and ('disease has inflammation site' some 'meninx') and ('disease has inflammation site' some 'fallopian tube') http://www.ebi.ac.uk/efo/EFO_1000046 papillary lung adenocarcinoma 'papillary lung adenocarcinoma' EquivalentTo 'papillary adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_1000044 pancreatic adenocarcinoma 'pancreatic adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas') http://www.ebi.ac.uk/efo/EFO_1000042 ovarian clear cell adenocarcinoma 'ovarian clear cell adenocarcinoma' EquivalentTo 'clear cell adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_0000632 oligodendroglioma 'oligodendroglioma' EquivalentTo 'oligodendroglial tumor' and ('bearer_of' some 'tumor grade 2, general grading system') http://www.ebi.ac.uk/efo/EFO_1000043 ovarian serous cystadenocarcinoma 'ovarian serous cystadenocarcinoma' EquivalentTo 'serous cystadenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_0000637 osteosarcoma 'osteosarcoma' SubClassOf 'bone disease' 'osteosarcoma' SubClassOf 'bone neoplasm' 'osteosarcoma' SubClassOf 'musculoskeletal system cancer' http://www.ebi.ac.uk/efo/EFO_1000051 reproductive system neoplasm 'reproductive system neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'reproductive system') http://www.ebi.ac.uk/efo/EFO_1000052 sex cord-stromal tumor 'sex cord-stromal tumor' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005295 'sex cord-stromal tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005295) http://www.ebi.ac.uk/efo/EFO_1000050 renal leiomyoma 'renal leiomyoma' EquivalentTo 'leiomyoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://www.ebi.ac.uk/efo/EFO_1000059 cervical artery dissection 'cervical artery dissection' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0012320 http://www.ebi.ac.uk/efo/EFO_1000057 nasal cavity squamous cell carcinoma 'nasal cavity squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nasal cavity') http://www.ebi.ac.uk/efo/EFO_1000058 nasopharyngeal squamous cell carcinoma 'nasopharyngeal squamous cell carcinoma' SubClassOf 'respiratory system disease' 'nasopharyngeal squamous cell carcinoma' SubClassOf 'respiratory system cancer' 'nasopharyngeal squamous cell carcinoma' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_1000055 tongue squamous cell carcinoma 'tongue squamous cell carcinoma' SubClassOf 'tongue neoplasm' 'tongue squamous cell carcinoma' SubClassOf 'oral squamous cell carcinoma' 'tongue squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'tongue') 'tongue squamous cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004631 http://www.ebi.ac.uk/efo/EFO_0000621 neuroblastoma 'neuroblastoma' SubClassOf 'neurocristopathy' 'neuroblastoma' SubClassOf 'neurocristopathy' http://www.ebi.ac.uk/efo/EFO_1000053 squamous cell breast carcinoma 'squamous cell breast carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://www.ebi.ac.uk/efo/EFO_1000054 thymic lymphoma 'thymic lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://www.ebi.ac.uk/efo/EFO_0000625 nevus 'nevus' SubClassOf 'benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0000650 whooping cough 'whooping cough' SubClassOf 'bearer_of' some 'rare' 'whooping cough' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0031247 http://www.ebi.ac.uk/efo/EFO_0000641 papillary thyroid carcinoma 'papillary thyroid carcinoma' EquivalentTo 'papillary adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') http://www.ebi.ac.uk/efo/EFO_0000649 periodontitis 'periodontitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001758) 'periodontitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001758 http://www.ebi.ac.uk/efo/EFO_0009000 Mast Cell Neoplasm 'Mast Cell Neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004020 some 'mast cell') 'Mast Cell Neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'mast cell' http://www.ebi.ac.uk/efo/EFO_0009002 splenic disease 'splenic disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'spleen' 'splenic disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spleen') http://purl.obolibrary.org/obo/MONDO_0011911 craniolenticulosutural dysplasia 'craniolenticulosutural dysplasia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0000673 prostate adenocarcinoma 'prostate adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis 'psoriasis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000403 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://purl.obolibrary.org/obo/UBERON_0002294 biliary system 'biliary system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/MONDO_0011927 tufted angioma 'tufted angioma' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0000668 preeclampsia 'preeclampsia' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_263463 CHST3-related skeletal dysplasia 'CHST3-related skeletal dysplasia' SubClassOf 'inborn errors of metabolism' 'CHST3-related skeletal dysplasia' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0011939 Spondyloenchondrodysplasia with immune dysregulation 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'syndromic disease' 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf 'hereditary disorder of connective tissue' 'Spondyloenchondrodysplasia with immune dysregulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 http://www.ebi.ac.uk/efo/EFO_0009028 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009029 Central precocious puberty 'Central precocious puberty' EquivalentTo 'precocious puberty' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0032274) 'Central precocious puberty' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0032274 http://purl.obolibrary.org/obo/MONDO_0011933 ALG2-congenital disorder of glycosylation 'ALG2-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0000693 schwannoma 'schwannoma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://www.ebi.ac.uk/efo/EFO_0000694 severe acute respiratory syndrome 'severe acute respiratory syndrome' SubClassOf 'bearer_of' some 'rare' 'severe acute respiratory syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'SARS coronavirus Tor2' 'severe acute respiratory syndrome' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'SARS coronavirus Tor2') http://www.ebi.ac.uk/efo/EFO_0000699 Sjogren syndrome 'Sjogren syndrome' SubClassOf 'autoimmune disorder of gastrointestinal tract' http://www.ebi.ac.uk/efo/EFO_0009011 Arteritis 'Arteritis' SubClassOf 'disease has inflammation site' some 'artery' 'Arteritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'artery') http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma 'renal cell carcinoma' SubClassOf 'bearer_of' some 'rare' 'renal cell carcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://www.ebi.ac.uk/efo/EFO_0000684 respiratory system disease 'respiratory system disease' SubClassOf 'in taxon' some 'Homo sapiens' 'respiratory system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'respiratory system' http://www.ebi.ac.uk/efo/EFO_0000685 rheumatoid arthritis 'rheumatoid arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0002960) http://purl.obolibrary.org/obo/MONDO_0011959 sweet syndrome 'sweet syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0002255 vomeronasal organ 'vomeronasal organ' SubClassOf 'part of' some 'sensory system' 'vomeronasal organ' SubClassOf 'part of' some 'anatomical system' 'vomeronasal organ' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000020 http://purl.obolibrary.org/obo/MONDO_0011969 ALG8-congenital disorder of glycosylation 'ALG8-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011962 endometrial cancer 'endometrial cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') 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 'bearer_of' some 'rare' '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' EquivalentTo 'porphyria cutanea tarda' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0021300 adenoid cystic carcinoma of oropharynx 'adenoid cystic carcinoma of oropharynx' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'oropharynx') http://purl.obolibrary.org/obo/MONDO_0021301 adenoma of nipple 'adenoma of nipple' SubClassOf 'integumentary system benign neoplasm' 'adenoma of nipple' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002030) http://purl.obolibrary.org/obo/MONDO_0011972 ovarian hyperstimulation syndrome 'ovarian hyperstimulation syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021303 adenoma of small intestine 'adenoma of small intestine' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://purl.obolibrary.org/obo/MONDO_0021309 malignant neoplasm of endocervix 'malignant neoplasm of endocervix' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000458) 'malignant neoplasm of endocervix' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000458 http://purl.obolibrary.org/obo/MONDO_0021320 malignant tumor of floor of mouth 'malignant tumor of floor of mouth' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mouth floor') http://purl.obolibrary.org/obo/MONDO_0021321 malignant tumor of extrahepatic bile duct 'malignant tumor of extrahepatic bile duct' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003703) http://purl.obolibrary.org/obo/MONDO_0021322 malignant tumor of meninges 'malignant tumor of meninges' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'meningeal cluster') http://purl.obolibrary.org/obo/MONDO_0011995 cataract - congenital heart disease - neural tube defect syndrome 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'bearer_of' some 'congenital' 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021327 carcinoma of urethra 'carcinoma of urethra' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urethra') http://purl.obolibrary.org/obo/MONDO_0021310 malignant tumor of neck 'malignant tumor of neck' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'neck') http://purl.obolibrary.org/obo/MONDO_0021311 malignant tumor of parathyroid gland 'malignant tumor of parathyroid gland' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parathyroid gland') http://purl.obolibrary.org/obo/MONDO_0021312 malignant tumor of adrenal cortex 'malignant tumor of adrenal cortex' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal cortex') http://purl.obolibrary.org/obo/MONDO_0021313 eyelid cancer 'eyelid cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyelid') http://purl.obolibrary.org/obo/MONDO_0021316 malignant tumor of minor salivary gland 'malignant tumor of minor salivary gland' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'minor salivary gland') http://purl.obolibrary.org/obo/MONDO_0021343 carcinoma of floor of mouth 'carcinoma of floor of mouth' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mouth floor') http://purl.obolibrary.org/obo/MONDO_0021345 carcinoma of pharynx 'carcinoma of pharynx' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0006562) http://purl.obolibrary.org/obo/MONDO_0021348 neoplasm of testis 'neoplasm of testis' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') http://purl.obolibrary.org/obo/MONDO_0021335 carcinoma of duodenum 'carcinoma of duodenum' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'duodenum') http://purl.obolibrary.org/obo/MONDO_0021337 tonsil carcinoma 'tonsil carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'tonsil') http://purl.obolibrary.org/obo/MONDO_0021364 neoplasm of oropharynx 'neoplasm of oropharynx' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'oropharynx') 'neoplasm of oropharynx' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'oropharynx' http://purl.obolibrary.org/obo/MONDO_0021366 neoplasm of middle ear 'neoplasm of middle ear' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'middle ear') 'neoplasm of middle ear' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021368 neoplasm of major salivary gland 'neoplasm of major salivary gland' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001829) 'neoplasm of major salivary gland' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001829 http://purl.obolibrary.org/obo/MONDO_0021360 tumor of parathyroid gland 'tumor of parathyroid gland' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parathyroid gland') http://purl.obolibrary.org/obo/MONDO_0021350 neoplasm of thorax 'neoplasm of thorax' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thoracic segment of trunk') 'neoplasm of thorax' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'thoracic segment of trunk' http://purl.obolibrary.org/obo/MONDO_0021351 neoplasm of neck 'neoplasm of neck' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'neck') 'neoplasm of neck' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'neck' http://purl.obolibrary.org/obo/MONDO_0021354 tumor of adipose tissue 'tumor of adipose tissue' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'adipose tissue' 'tumor of adipose tissue' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adipose tissue') http://purl.obolibrary.org/obo/MONDO_0021355 neoplasm of esophagus 'neoplasm of esophagus' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://purl.obolibrary.org/obo/MONDO_0021358 neoplasm of hypopharynx 'neoplasm of hypopharynx' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'hypopharynx' 'neoplasm of hypopharynx' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hypopharynx') http://purl.obolibrary.org/obo/MONDO_0021383 neoplasm of floor of mouth 'neoplasm of floor of mouth' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mouth floor') 'neoplasm of floor of mouth' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mouth floor' http://purl.obolibrary.org/obo/MONDO_0021385 extrahepatic bile duct neoplasm 'extrahepatic bile duct neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003703) 'extrahepatic bile duct neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003703 http://purl.obolibrary.org/obo/MONDO_0021386 neoplasm of mediastinum 'neoplasm of mediastinum' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum') 'neoplasm of mediastinum' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum' http://purl.obolibrary.org/obo/MONDO_0021381 neoplasm of pericardium 'neoplasm of pericardium' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pericardium') http://purl.obolibrary.org/obo/MONDO_0021374 neoplasm of cerebral hemisphere 'neoplasm of cerebral hemisphere' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebral hemisphere') 'neoplasm of cerebral hemisphere' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0021375 tumor of duodenum 'tumor of duodenum' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'duodenum') http://purl.obolibrary.org/obo/MONDO_0021370 neoplasm of minor salivary gland 'neoplasm of minor salivary gland' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'minor salivary gland' 'neoplasm of minor salivary gland' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'minor salivary gland') http://purl.obolibrary.org/obo/MONDO_0021396 polyp of vulva 'polyp of vulva' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva' 'polyp of vulva' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0021398 polyp of rectum 'polyp of rectum' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://purl.obolibrary.org/obo/MONDO_0021392 polyp of large intestine 'polyp of large intestine' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'large intestine') http://www.orpha.net/ORDO/Orphanet_1574 Retinal degeneration - nanophthalmos - glaucoma 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'Retinal dystrophy' 'Retinal degeneration - nanophthalmos - glaucoma' SubClassOf 'Genetic vitreous-retinal disease' http://www.ebi.ac.uk/efo/EFO_1000103 Bartholin Gland Carcinoma 'Bartholin Gland Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000460) http://www.ebi.ac.uk/efo/EFO_1000104 Bartholin Gland Squamous Cell Carcinoma 'Bartholin Gland Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000460) http://www.ebi.ac.uk/efo/EFO_1000100 Atypical Lobular Breast Hyperplasia 'Atypical Lobular Breast Hyperplasia' SubClassOf 'integumentary system cancer' 'Atypical Lobular Breast Hyperplasia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0018140 http://www.ebi.ac.uk/efo/EFO_1000107 Benign Brain Neoplasm 'Benign Brain Neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://www.ebi.ac.uk/efo/EFO_1000110 Benign Conjunctival Neoplasm 'Benign Conjunctival Neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'conjunctiva') http://www.ebi.ac.uk/efo/EFO_1000116 Benign Ovarian Neoplasm 'Benign Ovarian Neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000125 Bladder Adenocarcinoma 'Bladder Adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') http://www.ebi.ac.uk/efo/EFO_1000123 Bile Duct Adenoma 'Bile Duct Adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bile duct') http://www.ebi.ac.uk/efo/EFO_1000121 Benign Smooth Muscle Neoplasm 'Benign Smooth Muscle Neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'smooth muscle tissue' 'Benign Smooth Muscle Neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'smooth muscle tissue') http://www.ebi.ac.uk/efo/EFO_1000122 Benign Thyroid Gland Neoplasm 'Benign Thyroid Gland Neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') http://www.ebi.ac.uk/efo/EFO_1000129 Bladder Small Cell Neuroendocrine Carcinoma 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'bearer_of' some 'rare' 'Bladder Small Cell Neuroendocrine Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') http://www.ebi.ac.uk/efo/EFO_1000127 Bladder Inflammatory Myofibroblastic Tumor 'Bladder Inflammatory Myofibroblastic Tumor' EquivalentTo 'inflammatory myofibroblastic tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') http://www.ebi.ac.uk/efo/EFO_1000128 Bladder Paraganglioma 'Bladder Paraganglioma' SubClassOf 'urinary system neoplasm' http://purl.obolibrary.org/obo/UBERON_0002106 spleen 'spleen' SubClassOf 'anatomical structure' 'spleen' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002075 'spleen' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005057 http://purl.obolibrary.org/obo/UBERON_0002107 liver 'liver' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_0002108 small intestine 'small intestine' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://www.ebi.ac.uk/efo/EFO_1000130 Bladder Squamous Cell Carcinoma 'Bladder Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') http://www.ebi.ac.uk/efo/EFO_1000145 breast fibrosis 'breast fibrosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mammary gland' http://www.ebi.ac.uk/efo/EFO_1000146 Breast Mucosa-Associated Lymphoid Tissue Lymphoma 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'integumentary system disease' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'breast disease' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mammary gland' 'Breast Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'breast lymphoma' http://www.ebi.ac.uk/efo/EFO_1000144 Breast Diffuse Large B-Cell Lymphoma 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'immune system cancer' 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'integumentary system cancer' 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mammary gland' 'Breast Diffuse Large B-Cell Lymphoma' EquivalentTo 'diffuse large B-cell lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') 'Breast Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphatic system cancer' http://www.ebi.ac.uk/efo/EFO_1000142 Brain Stem Glioma 'Brain Stem Glioma' EquivalentTo 'malignant glioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brainstem') http://www.ebi.ac.uk/efo/EFO_1000150 Cardiac Rhabdomyoma 'Cardiac Rhabdomyoma' EquivalentTo 'rhabdomyoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'heart') http://www.ebi.ac.uk/efo/EFO_1000158 Central Nervous System Neoplasm 'Central Nervous System Neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://www.ebi.ac.uk/efo/EFO_1000156 Central Nervous System Anaplastic Large Cell Lymphoma 'Central Nervous System Anaplastic Large Cell Lymphoma' EquivalentTo 'anaplastic large cell lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://www.ebi.ac.uk/efo/EFO_1000157 Central Nervous System Lymphoma 'Central Nervous System Lymphoma' SubClassOf 'hereditary neurological disease' 'Central Nervous System Lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://www.ebi.ac.uk/efo/EFO_1000155 Cecum Villous Adenoma 'Cecum Villous Adenoma' EquivalentTo 'villous adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'caecum') http://www.ebi.ac.uk/efo/EFO_1000152 Cavernous Hemangioma of the Face 'Cavernous Hemangioma of the Face' EquivalentTo 'Cavernous Hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001456) 'Cavernous Hemangioma of the Face' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001456 http://www.ebi.ac.uk/efo/EFO_1000161 Cervical Adenoid Cystic Carcinoma 'Cervical Adenoid Cystic Carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_1000160 Cervical Adenoid Basal Carcinoma 'Cervical Adenoid Basal Carcinoma' SubClassOf 'bearer_of' some 'rare' 'Cervical Adenoid Basal Carcinoma' EquivalentTo 'skin adenoid basal cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_1000163 Cervical Clear Cell Adenocarcinoma 'Cervical Clear Cell Adenocarcinoma' EquivalentTo 'clear cell adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_0000512 reproductive system disease 'reproductive system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'reproductive system' 'reproductive system disease' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_1000164 Cervical Endometrioid Adenocarcinoma 'Cervical Endometrioid Adenocarcinoma' EquivalentTo 'endometrioid carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_0000519 glioblastoma multiforme 'glioblastoma multiforme' SubClassOf 'bearer_of' some 'tumor grade 4, general grading system' http://www.ebi.ac.uk/efo/EFO_1000172 cervical squamous cell carcinoma 'cervical squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_1000173 Cervical Wilms Tumor 'Cervical Wilms Tumor' SubClassOf 'hereditary Wilms tumor' 'Cervical Wilms Tumor' EquivalentTo 'Wilms tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_1000170 Cervical Mucinous Adenocarcinoma, Villoglandular Variant 'Cervical Mucinous Adenocarcinoma, Villoglandular Variant' EquivalentTo 'villous adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_1000171 Cervical Small Cell Carcinoma 'Cervical Small Cell Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_1000179 Chronic Neutrophilic Leukemia 'Chronic Neutrophilic Leukemia' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_1000174 Chondroid Chordoma 'Chondroid Chordoma' SubClassOf 'hereditary neurological disease' 'Chondroid Chordoma' SubClassOf 'spinal cord disease' 'Chondroid Chordoma' SubClassOf 'hereditary disorder of connective tissue' 'Chondroid Chordoma' SubClassOf 'spinal cord neoplasm' http://www.ebi.ac.uk/efo/EFO_0000501 follicular thyroid carcinoma 'follicular thyroid carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005305) 'follicular thyroid carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005305 http://www.ebi.ac.uk/efo/EFO_0000503 gastric adenocarcinoma 'gastric adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_0000504 gastric intestinal type adenocarcinoma 'gastric intestinal type adenocarcinoma' EquivalentTo 'Intestinal Type Adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder 'genetic disorder' SubClassOf 'bearer_of' some 'inherited' 'genetic disorder' SubClassOf 'in taxon' some 'Homo sapiens' 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 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0000822 'hypertension' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/HP_0004532 Sacral hypertrichosis 'Sacral hypertrichosis' SubClassOf 'Abnormality of the integument' 'Sacral hypertrichosis' SubClassOf http://purl.obolibrary.org/obo/HP_0000998 http://purl.obolibrary.org/obo/UBERON_0002165 endocardium 'endocardium' SubClassOf 'heart component' 'endocardium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005983 http://www.ebi.ac.uk/efo/EFO_0000557 juvenile dermatomyositis 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' 'juvenile dermatomyositis' SubClassOf 'disease has inflammation site' some 'myoseptum' 'juvenile dermatomyositis' EquivalentTo 'disease' and ('disease has inflammation site' some 'myoseptum') 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' http://www.ebi.ac.uk/efo/EFO_0000540 immune system disease 'immune system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'immune system' 'immune system disease' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/UBERON_0002185 bronchus 'bronchus' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007196 http://purl.obolibrary.org/obo/HP_0004552 Scarring alopecia of scalp 'Scarring alopecia of scalp' SubClassOf 'hereditary skin disorder' 'Scarring alopecia of scalp' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/UBERON_0002186 bronchiole 'bronchiole' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007196 http://www.ebi.ac.uk/efo/EFO_0000571 lung adenocarcinoma 'lung adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0011810 horizontal gaze palsy with progressive scoliosis 'horizontal gaze palsy with progressive scoliosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0002114 duodenum 'duodenum' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0002115 jejunum 'jejunum' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0002116 ileum 'ileum' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0002110 gallbladder 'gallbladder' SubClassOf 'anatomical structure' 'gallbladder' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002075 http://www.ebi.ac.uk/efo/EFO_0000569 liposarcoma 'liposarcoma' SubClassOf 'musculoskeletal system cancer' http://purl.obolibrary.org/obo/UBERON_0002135 mitral valve 'mitral valve' SubClassOf 'heart component' 'mitral valve' SubClassOf 'part of' some 'heart' 'mitral valve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000946 http://purl.obolibrary.org/obo/UBERON_0002137 aortic valve 'aortic valve' SubClassOf 'heart component' 'aortic valve' SubClassOf 'part of' some 'heart' 'aortic valve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000946 http://www.ebi.ac.uk/efo/EFO_0000584 infectious meningitis 'infectious meningitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'meninx') http://www.ebi.ac.uk/efo/EFO_0000589 metabolic disease 'metabolic disease' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0011841 biotin-responsive basal ganglia disease 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'biotin') 'biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'biotin' 'biotin-responsive basal ganglia disease' SubClassOf 'brain injury' http://www.ebi.ac.uk/efo/EFO_0000499 follicular thyroid adenoma 'follicular thyroid adenoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005305 'follicular thyroid adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005305) http://www.ebi.ac.uk/efo/EFO_0000489 extra-adrenal sympathetic paraganglioma 'extra-adrenal sympathetic paraganglioma' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0050432 http://purl.obolibrary.org/obo/MONDO_0021201 skin infection 'skin infection' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0021205 disorder of ear 'disorder of ear' SubClassOf 'otorhinolaryngologic disease' 'disorder of ear' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ear') 'disorder of ear' SubClassOf 'otorhinolaryngologic disease' 'disorder of ear' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'ear' http://purl.obolibrary.org/obo/MONDO_0021222 lacrimal gland neoplasm 'lacrimal gland neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lacrimal gland') 'lacrimal gland neoplasm' SubClassOf 'eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0021224 iris neoplasm 'iris neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'iris') http://purl.obolibrary.org/obo/MONDO_0021225 uvea neoplasm 'uvea neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001768) http://purl.obolibrary.org/obo/UBERON_0002190 subcutaneous adipose tissue 'subcutaneous adipose tissue' EquivalentTo 'adipose tissue' and ('part of' some http://purl.obolibrary.org/obo/UBERON_0002072) 'subcutaneous adipose tissue' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002072 http://purl.obolibrary.org/obo/MONDO_0011895 idiopathic hypereosinophilic syndrome 'idiopathic hypereosinophilic syndrome' EquivalentTo 'Hypereosinophilic syndrome' and ('bearer_of' some 'idiopathic') 'idiopathic hypereosinophilic syndrome' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0021229 ciliary body neoplasm 'ciliary body neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001775) http://purl.obolibrary.org/obo/UBERON_0002198 neurohypophysis 'neurohypophysis' SubClassOf 'endocrine gland' 'neurohypophysis' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010133 http://purl.obolibrary.org/obo/MONDO_0021218 placenta neoplasm 'placenta neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'placenta') http://purl.obolibrary.org/obo/MONDO_0021246 pharynx neoplasm 'pharynx neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0006562 'pharynx neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0006562) http://purl.obolibrary.org/obo/MONDO_0021248 nervous system neoplasm 'nervous system neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nervous system') http://purl.obolibrary.org/obo/MONDO_0021249 lip neoplasm 'lip neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001833) http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm 'uterine cervix neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://purl.obolibrary.org/obo/MONDO_0021232 pineal body neoplasm 'pineal body neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pineal body') 'pineal body neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pineal body' http://purl.obolibrary.org/obo/MONDO_0021233 ear neoplasm 'ear neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ear') http://purl.obolibrary.org/obo/MONDO_0021237 adrenal medulla neoplasm 'adrenal medulla neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal medulla') 'adrenal medulla neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal medulla' http://purl.obolibrary.org/obo/MONDO_0021238 cornea neoplasm 'cornea neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cornea') http://www.ebi.ac.uk/efo/EFO_1000060 intestinal disaccharide deficiency and disaccharide malabsorption 'intestinal disaccharide deficiency and disaccharide malabsorption' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system' http://www.ebi.ac.uk/efo/EFO_1000066 ACTH-Producing Pituitary Gland Adenoma 'ACTH-Producing Pituitary Gland Adenoma' EquivalentTo 'adenoma' and ('realized in' some http://purl.obolibrary.org/obo/GO_0051458) and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') http://www.ebi.ac.uk/efo/EFO_1000067 ACTH-Producing Pituitary Gland Carcinoma 'ACTH-Producing Pituitary Gland Carcinoma' EquivalentTo 'cancer' and ('realized in' some http://purl.obolibrary.org/obo/GO_0051458) and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') http://purl.obolibrary.org/obo/MONDO_0021251 endometrium neoplasm 'endometrium neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') http://www.ebi.ac.uk/efo/EFO_1000071 Adenoid Cystic Breast Carcinoma 'Adenoid Cystic Breast Carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://purl.obolibrary.org/obo/MONDO_0021254 corpus uteri neoplasm 'corpus uteri neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus' 'corpus uteri neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0021258 choroid neoplasm 'choroid neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001776) http://www.ebi.ac.uk/efo/EFO_1000079 Ampulla of Vater Carcinoma 'Ampulla of Vater Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hepatopancreatic ampulla') http://www.ebi.ac.uk/efo/EFO_1000077 AIDS-Related Primary Central Nervous System Lymphoma 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'hereditary neurological disease' 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'central nervous system disease' 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'virus associated tumor' 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'Central Nervous System Lymphoma' http://www.ebi.ac.uk/efo/EFO_1000075 Adrenal Gland Neuroblastoma 'Adrenal Gland Neuroblastoma' EquivalentTo 'neuroblastoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002369) http://purl.obolibrary.org/obo/MONDO_0021250 tonsil neoplasm 'tonsil neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'tonsil' 'tonsil neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'tonsil') http://www.ebi.ac.uk/efo/EFO_1000076 Adrenal Medullary Hyperplasia 'Adrenal Medullary Hyperplasia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal medulla' 'Adrenal Medullary Hyperplasia' EquivalentTo 'hyperplasia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal medulla') http://purl.obolibrary.org/obo/MONDO_0021259 prostate neoplasm 'prostate neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://www.ebi.ac.uk/efo/EFO_1000084 Angioleiomyoma 'Angioleiomyoma' SubClassOf 'integumentary system disease' 'Angioleiomyoma' SubClassOf 'integumentary system benign neoplasm' http://www.ebi.ac.uk/efo/EFO_1000080 Anal Melanoma 'Anal Melanoma' SubClassOf 'colorectal carcinoma' 'Anal Melanoma' EquivalentTo 'melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245) 'Anal Melanoma' SubClassOf 'anal carcinoma' http://purl.obolibrary.org/obo/MONDO_0021289 carcinoma in situ of cecum 'carcinoma in situ of cecum' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'caecum') http://www.ebi.ac.uk/efo/EFO_1000081 Anal Squamous Cell Carcinoma 'Anal Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245) http://www.ebi.ac.uk/efo/EFO_1000088 Appendix Adenocarcinoma 'Appendix Adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') http://purl.obolibrary.org/obo/MONDO_0021280 mucoepidermoid carcinoma of parotid gland 'mucoepidermoid carcinoma of parotid gland' EquivalentTo 'mucoepidermoid carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parotid gland') http://www.ebi.ac.uk/efo/EFO_1000089 Appendix Adenoma 'Appendix Adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') http://www.ebi.ac.uk/efo/EFO_1000095 Askin Tumor 'Askin Tumor' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002224 http://www.ebi.ac.uk/efo/EFO_1000093 Appendix Villous Adenoma 'Appendix Villous Adenoma' EquivalentTo 'villous adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') http://www.ebi.ac.uk/efo/EFO_1000094 Ascending Colon Neuroendocrine Tumor G1 'Ascending Colon Neuroendocrine Tumor G1' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'ascending colon' http://www.ebi.ac.uk/efo/EFO_1000091 Appendix Hyperplastic Polyp 'Appendix Hyperplastic Polyp' EquivalentTo 'Hyperplastic Polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') http://purl.obolibrary.org/obo/MONDO_0021279 mucoepidermoid carcinoma of submandibular gland 'mucoepidermoid carcinoma of submandibular gland' EquivalentTo 'mucoepidermoid carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'submandibular gland') http://purl.obolibrary.org/obo/MONDO_0021271 villous adenoma of colon 'villous adenoma of colon' EquivalentTo 'villous adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0021272 inherited orthostatic hypotension 'inherited orthostatic hypotension' EquivalentTo 'primary orthostatic hypotension' and ('bearer_of' some 'inherited') 'inherited orthostatic hypotension' SubClassOf 'primary orthostatic hypotension' 'inherited orthostatic hypotension' SubClassOf 'primary orthostatic hypotension' http://www.orpha.net/ORDO/Orphanet_1414 Cholestasis-lymphedema syndrome 'Cholestasis-lymphedema syndrome' SubClassOf 'hereditary skin disorder' 'Cholestasis-lymphedema syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0045070 digestive system melanoma 'digestive system melanoma' EquivalentTo 'melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system') http://purl.obolibrary.org/obo/MONDO_0021092 fallopian tube neoplasm 'fallopian tube neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'fallopian tube') http://purl.obolibrary.org/obo/HP_0004804 Congenital hemolytic anemia 'Congenital hemolytic anemia' SubClassOf http://purl.obolibrary.org/obo/HP_0001903 http://purl.obolibrary.org/obo/MONDO_0045051 cortical cataract 'cortical cataract' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000389 'cortical cataract' EquivalentTo 'cataract' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000389) http://purl.obolibrary.org/obo/MONDO_0045050 nuclear cataract 'nuclear cataract' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000390 'nuclear cataract' EquivalentTo 'cataract' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000390) http://purl.obolibrary.org/obo/MONDO_0045058 ACTH-producing pituitary gland neoplasm 'ACTH-producing pituitary gland neoplasm' EquivalentTo 'neoplasm' and ('realized in' some http://purl.obolibrary.org/obo/GO_0051458) and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') 'ACTH-producing pituitary gland neoplasm' SubClassOf 'realized in' some http://purl.obolibrary.org/obo/GO_0051458 http://purl.obolibrary.org/obo/MONDO_0045056 grade II meningioma 'grade II meningioma' EquivalentTo 'meningioma' and ('bearer_of' some 'tumor grade 2, general grading system') 'grade II meningioma' SubClassOf 'bearer_of' some 'tumor grade 2, general grading system' http://purl.obolibrary.org/obo/MONDO_0045063 major salivary gland adenoid cystic carcinoma 'major salivary gland adenoid cystic carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001829) http://purl.obolibrary.org/obo/MONDO_0045068 minor salivary gland adenoid cystic carcinoma 'minor salivary gland adenoid cystic carcinoma' EquivalentTo 'salivary gland adenoid cystic carcinoma' and 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'minor salivary gland') http://purl.obolibrary.org/obo/MONDO_0045069 minor salivary gland carcinoma 'minor salivary gland carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'minor salivary gland') http://www.orpha.net/ORDO/Orphanet_86917 Lymphedema - cleft palate 'Lymphedema - cleft palate' SubClassOf 'hereditary skin disorder' 'Lymphedema - cleft palate' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0010238 perinatal disease 'perinatal disease' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0009266 refractory celiac disease 'refractory celiac disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0004840 Hypochromic microcytic anemia 'Hypochromic microcytic anemia' SubClassOf 'Anemia of inadequate production' 'Hypochromic microcytic anemia' SubClassOf http://purl.obolibrary.org/obo/HP_0001931 'Hypochromic microcytic anemia' SubClassOf http://purl.obolibrary.org/obo/HP_0001935 http://www.ebi.ac.uk/efo/EFO_0009259 skin carcinoma 'skin carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://www.ebi.ac.uk/efo/EFO_0009254 optic nerve glioblastoma 'optic nerve glioblastoma' EquivalentTo 'glioma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000941) http://www.ebi.ac.uk/efo/EFO_0009255 cecal neoplasm 'cecal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'caecum') http://www.ebi.ac.uk/efo/EFO_0010267 autosomal dominant intermediate Charcot-Marie-Tooth disease type G 'autosomal dominant intermediate Charcot-Marie-Tooth disease type G' SubClassOf 'hereditary motor neuron disease' 'autosomal dominant intermediate Charcot-Marie-Tooth disease type G' SubClassOf 'motor neuron disease' http://www.ebi.ac.uk/efo/EFO_0010264 spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant 'spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0035740 acquired factor XI deficiency 'acquired factor XI deficiency' EquivalentTo 'factor XI deficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0021106 laminopathy 'laminopathy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005652) 'laminopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005652 http://purl.obolibrary.org/obo/MONDO_0021107 narcolepsy 'narcolepsy' SubClassOf 'sleep-wake disorder' 'narcolepsy' SubClassOf 'hereditary neurological disease' 'narcolepsy' SubClassOf 'sleep-wake disorder' http://purl.obolibrary.org/obo/MONDO_0021108 meningitis 'meningitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'meninx') 'meningitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'meninx' 'meningitis' SubClassOf 'disease has inflammation site' some 'meninx' http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma 'inverted urothelial papilloma' EquivalentTo 'inverted papilloma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urothelium') http://purl.obolibrary.org/obo/MONDO_0035737 acquired factor V deficiency 'acquired factor V deficiency' EquivalentTo 'factor V deficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0011789 familial meningioma 'familial meningioma' EquivalentTo 'meningioma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0035738 acquired factor VII deficiency 'acquired factor VII deficiency' EquivalentTo 'factor VII deficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0021120 functioning endocrine neoplasm 'functioning endocrine neoplasm' SubClassOf 'realized in' some 'hormone secretion' http://purl.obolibrary.org/obo/MONDO_0021123 Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone 'Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone' EquivalentTo 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002481) http://purl.obolibrary.org/obo/MONDO_0011795 anonychia-microcephaly syndrome 'anonychia-microcephaly syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011790 Amish lethal microcephaly 'Amish lethal microcephaly' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021110 sweat gland adenoma 'sweat gland adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sweat gland') http://purl.obolibrary.org/obo/MONDO_0021114 Bartholin gland neoplasm 'Bartholin gland neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000460 'Bartholin gland neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000460) http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm 'lung neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0021118 intestinal neoplasm 'intestinal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'intestine') http://purl.obolibrary.org/obo/MONDO_0021119 non-functioning endocrine neoplasm 'non-functioning endocrine neoplasm' SubClassOf 'realized in' some 'hormone secretion' http://purl.obolibrary.org/obo/MONDO_0021142 acquired rippling muscle disease 'acquired rippling muscle disease' EquivalentTo 'rippling muscle disease' and ('bearer_of' some 'acquired') '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 'neurocristopathy' 'melanocytic neoplasm' SubClassOf 'neurocristopathy' http://purl.obolibrary.org/obo/MONDO_0021147 disorder of development or morphogenesis 'disorder of development or morphogenesis' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'developmental process' 'disorder of development or morphogenesis' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0021148 female reproductive system neoplasm 'female reproductive system neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'female reproductive system') http://purl.obolibrary.org/obo/MONDO_0021140 congenital 'congenital' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0021133 acquired factor XIII deficiency 'acquired factor XIII deficiency' EquivalentTo 'factor XIII deficiency' and ('bearer_of' some 'acquired') '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' EquivalentTo 'factor X deficiency' and ('bearer_of' some 'acquired') 'acquired factor X deficiency' SubClassOf 'factor X deficiency' 'acquired factor X deficiency' SubClassOf 'factor X deficiency' http://purl.obolibrary.org/obo/MONDO_0021138 bone marrow cancer 'bone marrow cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bone marrow') http://purl.obolibrary.org/obo/MONDO_0021164 posthitis 'posthitis' SubClassOf 'disease has inflammation site' some 'prepuce of penis' 'posthitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'prepuce of penis') http://purl.obolibrary.org/obo/MONDO_0021154 dermis disorder 'dermis disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'dermis') 'dermis disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'dermis' http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipidemia 'hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'lipid metabolic process' 'hyperlipidemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0003077) 'hyperlipidemia' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0003077 http://purl.obolibrary.org/obo/MONDO_0021180 acquired xanthinuria 'acquired xanthinuria' EquivalentTo 'xanthinuria' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0021181 inherited blood coagulation disorder 'inherited blood coagulation disorder' SubClassOf 'blood coagulation disease' 'inherited blood coagulation disorder' EquivalentTo 'blood coagulation disease' and ('bearer_of' some 'inherited') 'inherited blood coagulation disorder' SubClassOf 'blood coagulation disease' http://purl.obolibrary.org/obo/UBERON_0002924 terminal nerve 'terminal nerve' SubClassOf 'nerve' 'terminal nerve' SubClassOf 'part of' some 'head' 'terminal nerve' SubClassOf 'part of' some 'nervous system' 'terminal nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001785 http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome 'acquired Fanconi syndrome' EquivalentTo 'Fanconi renotubular syndrome' and ('bearer_of' some 'acquired') 'acquired Fanconi syndrome' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0021192 odontogenic neoplasm 'odontogenic neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'calcareous tooth') http://purl.obolibrary.org/obo/MONDO_0060766 anal polyp 'anal polyp' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245) http://purl.obolibrary.org/obo/MONDO_0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 'facial palsy, congenital, with ptosis and velopharyngeal dysfunction' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0000712 stroke 'stroke' SubClassOf 'disease has feature' some 'structural epilepsy' 'stroke' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001297 'stroke' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brain blood vessel' http://www.ebi.ac.uk/efo/EFO_0000713 subarachnoid hemorrhage 'subarachnoid hemorrhage' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brain blood vessel' 'subarachnoid hemorrhage' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000315 http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf 'hereditary skin disorder' 'systemic scleroderma' SubClassOf 'inherited kidney disorder' 'systemic scleroderma' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0000701 skin disease 'skin disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') 'skin disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin' http://www.ebi.ac.uk/efo/EFO_0000702 small cell lung carcinoma 'small cell lung carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_0000708 squamous cell lung carcinoma 'squamous cell lung carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_0000731 uterine fibroid 'uterine fibroid' EquivalentTo 'leiomyoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://www.ebi.ac.uk/efo/EFO_0000737 well-differentiated sarcoma 'well-differentiated sarcoma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://www.orpha.net/ORDO/Orphanet_86821 Lissencephaly type 3 - familial fetal akinesia sequence 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'Lissencephaly' 'Lissencephaly type 3 - familial fetal akinesia sequence' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_86822 Lissencephaly type 3 - metacarpal bone dysplasia 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'Lissencephaly' 'Lissencephaly type 3 - metacarpal bone dysplasia' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'inherited neurodegenerative disorder' 'Rare parkinsonian syndrome due to genetic neurodegenerative disease' SubClassOf 'neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_307058 Miscellaneous movement disorder due to genetic neurodegenerative disease 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'inherited neurodegenerative disorder' 'Miscellaneous movement disorder due to genetic neurodegenerative disease' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0000773 temporal lobe epilepsy 'temporal lobe epilepsy' EquivalentTo 'epilepsy' and (http://purl.obolibrary.org/obo/RO_0004026 some 'temporal lobe') 'temporal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'temporal lobe' http://www.ebi.ac.uk/efo/EFO_0000775 Whipple's disease 'Whipple's disease' SubClassOf 'bearer_of' some 'rare' 'Whipple's disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system' http://www.ebi.ac.uk/efo/EFO_0000777 human granulocytic anaplasmosis 'human granulocytic anaplasmosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'Anaplasma phagocytophilum' 'human granulocytic anaplasmosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'neutrophil' 'human granulocytic anaplasmosis' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Anaplasma phagocytophilum') http://www.ebi.ac.uk/efo/EFO_0000762 hepatocellular adenoma 'hepatocellular adenoma' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0000764 HIV infection 'HIV infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'Human immunodeficiency virus' 'HIV infection' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Human immunodeficiency virus') http://www.ebi.ac.uk/efo/EFO_0000765 AIDS 'AIDS' SubClassOf http://purl.obolibrary.org/obo/RO_0004025 some 'CD4-positive helper T cell' 'AIDS' EquivalentTo 'T-cell immunodeficiency' and 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Human immunodeficiency virus') http://www.ebi.ac.uk/efo/EFO_0000767 idiopathic cardiomyopathy 'idiopathic cardiomyopathy' EquivalentTo 'cardiomyopathy' and ('bearer_of' some 'idiopathic') http://www.ebi.ac.uk/efo/EFO_0000769 Epstein-Barr virus infection 'Epstein-Barr virus infection' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Human herpesvirus 4') 'Epstein-Barr virus infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'Human herpesvirus 4' http://www.orpha.net/ORDO/Orphanet_96210 Rare genetic deafness 'Rare genetic deafness' SubClassOf 'inherited auditory system disease' 'Rare genetic deafness' SubClassOf 'genetic disorder' 'Rare genetic deafness' SubClassOf 'auditory system disease' http://www.ebi.ac.uk/efo/EFO_0000783 myositis 'myositis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'musculature of body' 'myositis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002385 'myositis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002385) http://www.ebi.ac.uk/efo/EFO_0009118 female reproductive endometrioid cancer 'female reproductive endometrioid cancer' SubClassOf 'cancer' 'female reproductive endometrioid cancer' SubClassOf 'female reproductive system disease' 'female reproductive endometrioid cancer' SubClassOf 'female reproductive system neoplasm' 'female reproductive endometrioid cancer' SubClassOf 'reproductive system cancer' http://www.ebi.ac.uk/efo/EFO_0009149 muscular dystrophy, congenital, with cataracts and intellectual disability 'muscular dystrophy, congenital, with cataracts and intellectual disability' SubClassOf 'inborn errors of metabolism' 'muscular dystrophy, congenital, with cataracts and intellectual disability' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0009163 woolly hair, autosomal recessive 2, with or without hypotrichosis 'woolly hair, autosomal recessive 2, with or without hypotrichosis' SubClassOf 'Woolly hair' 'woolly hair, autosomal recessive 2, with or without hypotrichosis' SubClassOf 'Isolated hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy 'glycine encephalopathy' SubClassOf 'inborn disorder of amino acid metabolism' http://www.ebi.ac.uk/efo/EFO_0009075 neuropathy, hereditary motor and sensory, type vib 'neuropathy, hereditary motor and sensory, type vib' SubClassOf 'hereditary motor neuron disease' 'neuropathy, hereditary motor and sensory, type vib' SubClassOf 'motor neuron disease' http://www.ebi.ac.uk/efo/EFO_0009071 malignant hyperthermia, susceptibility to, 1 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'Malignant hyperthermia' 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'Genetic muscular channelopathy' 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'malignant hyperthermia, susceptibility to' 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' http://www.ebi.ac.uk/efo/EFO_0009072 mbd5 associated neurodevelopmental disorder 'mbd5 associated neurodevelopmental disorder' SubClassOf 'hereditary neurological disease' 'mbd5 associated neurodevelopmental disorder' SubClassOf 'genetic disorder' 'mbd5 associated neurodevelopmental disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0011629 MOGS-congenital disorder of glycosylation 'MOGS-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009064 X-linked erythropoietic protoporphyria 'X-linked erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' 'X-linked erythropoietic protoporphyria' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0011631 hemochromatosis type 4 'hemochromatosis type 4' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021009 salivary gland mucoepidermoid carcinoma 'salivary gland mucoepidermoid carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://purl.obolibrary.org/obo/MONDO_0011686 DNA ligase IV deficiency 'DNA ligase IV deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia 'hereditary hyperekplexia' EquivalentTo 'hyperekplexia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0021026 hereditary epidermal appendage anomaly 'hereditary epidermal appendage anomaly' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0045002 vertebral disorder 'vertebral disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'vertebra' 'vertebral disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vertebra') http://purl.obolibrary.org/obo/MONDO_0045003 scrotal disorder 'scrotal disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001300) 'scrotal disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001300 http://purl.obolibrary.org/obo/MONDO_0045001 cardiac ventricle disorder 'cardiac ventricle disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'cardiac ventricle' 'cardiac ventricle disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cardiac ventricle') http://purl.obolibrary.org/obo/MONDO_0021017 synaptopathy 'synaptopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'synapse' 'synaptopathy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some 'synapse') http://purl.obolibrary.org/obo/MONDO_0021046 breast fibroepithelial neoplasm 'breast fibroepithelial neoplasm' EquivalentTo 'fibroepithelial neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://purl.obolibrary.org/obo/MONDO_0021047 breast phyllodes tumor 'breast phyllodes tumor' EquivalentTo 'phyllodes tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://purl.obolibrary.org/obo/MONDO_0021049 vulvar neoplasm 'vulvar neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') 'vulvar neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva' http://purl.obolibrary.org/obo/MONDO_0021041 pleural solitary fibrous tumor 'pleural solitary fibrous tumor' EquivalentTo 'solitary fibrous tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pleura') http://purl.obolibrary.org/obo/MONDO_0021064 jugulotympanic paraganglioma 'jugulotympanic paraganglioma' EquivalentTo 'parasympathetic paraganglioma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002517) http://purl.obolibrary.org/obo/MONDO_0021065 pleural neoplasm 'pleural neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pleura') http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm 'urinary system neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal system') http://purl.obolibrary.org/obo/MONDO_0021067 mediastinal germ cell tumor 'mediastinal germ cell tumor' EquivalentTo 'germ cell tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum') http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm 'malignant endocrine neoplasm' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine gland') http://purl.obolibrary.org/obo/MONDO_0045033 opportunistic systemic mycosis 'opportunistic systemic mycosis' EquivalentTo 'systemic mycosis' and ('bearer_of' some 'opportunistic infectious') http://purl.obolibrary.org/obo/MONDO_0021063 malignant colon neoplasm 'malignant colon neoplasm' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0021053 carotid body paraganglioma 'carotid body paraganglioma' EquivalentTo 'Paraganglioma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001629) 'carotid body paraganglioma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001629 http://purl.obolibrary.org/obo/MONDO_0021054 bone sarcoma 'bone sarcoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'bone element' http://purl.obolibrary.org/obo/MONDO_0045043 disorder of uterine broad ligament 'disorder of uterine broad ligament' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0012332 'disorder of uterine broad ligament' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0012332) 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_0021058 neoplastic syndrome 'neoplastic syndrome' SubClassOf 'neoplastic disease or syndrome' 'neoplastic syndrome' SubClassOf 'bearer_of' some 'rare' 'neoplastic syndrome' SubClassOf 'neoplastic disease or syndrome' http://purl.obolibrary.org/obo/MONDO_0045044 ligament disorder 'ligament disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'ligament' 'ligament disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ligament') http://purl.obolibrary.org/obo/MONDO_0021052 parasympathetic paraganglioma 'parasympathetic paraganglioma' EquivalentTo 'Paraganglioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parasympathetic nervous system') http://purl.obolibrary.org/obo/MONDO_0060663 congenital heart defects, multiple types, 5 'congenital heart defects, multiple types, 5' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0021086 gingival neoplasm 'gingival neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gingiva') http://purl.obolibrary.org/obo/MONDO_0021089 peripheral nervous system cancer 'peripheral nervous system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peripheral nervous system') http://purl.obolibrary.org/obo/MONDO_0021080 blood vessel neoplasm 'blood vessel neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'blood vessel') 'blood vessel neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'blood vessel' http://purl.obolibrary.org/obo/MONDO_0021084 vision disorder 'vision disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'visual perception' http://purl.obolibrary.org/obo/MONDO_0045011 keratinization disease 'keratinization disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0031424 'keratinization disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0031424) http://purl.obolibrary.org/obo/MONDO_0021076 pancreatic exocrine neoplasm 'pancreatic exocrine neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000017) 'pancreatic exocrine neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000017 http://purl.obolibrary.org/obo/MONDO_0045024 cancer or benign tumor 'cancer or benign tumor' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'cell population proliferation' 'cancer or benign tumor' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0021072 sympathetic paraganglioma 'sympathetic paraganglioma' EquivalentTo 'Paraganglioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sympathetic nervous system') http://purl.obolibrary.org/obo/MONDO_0045023 acquired adrenogenital syndrome 'acquired adrenogenital syndrome' EquivalentTo 'adrenogenital syndrome' and ('bearer_of' some 'acquired') http://www.ebi.ac.uk/efo/EFO_0009406 glucose metabolism disease 'glucose metabolism disease' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006006) 'glucose metabolism disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006006 http://www.ebi.ac.uk/efo/EFO_0009425 Yersinia pestis infectious disease 'Yersinia pestis infectious disease' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009448 pulmonary fibrosis 'pulmonary fibrosis' SubClassOf 'lung neoplasm' http://www.ebi.ac.uk/efo/EFO_0009449 keratitis 'keratitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'cornea') 'keratitis' SubClassOf 'disease has inflammation site' some 'cornea' http://www.ebi.ac.uk/efo/EFO_0009450 conjunctivitis 'conjunctivitis' SubClassOf 'disease has inflammation site' some 'conjunctiva' 'conjunctivitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'conjunctiva') http://www.ebi.ac.uk/efo/EFO_0009433 lower respiratory tract disease 'lower respiratory tract disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001558 'lower respiratory tract disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001558) http://www.ebi.ac.uk/efo/EFO_0009430 neuralgia 'neuralgia' EquivalentTo 'peripheral neuropathy' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0012531) http://www.ebi.ac.uk/efo/EFO_0009431 intestinal disease 'intestinal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'intestine') 'intestinal disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'intestine' http://www.ebi.ac.uk/efo/EFO_0009464 corneal disease 'corneal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cornea') 'corneal disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'cornea' http://www.ebi.ac.uk/efo/EFO_0009455 lacrimal apparatus disease 'lacrimal apparatus disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001750) 'lacrimal apparatus disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001750 http://www.ebi.ac.uk/efo/EFO_0009454 gastric ulcer 'gastric ulcer' EquivalentTo 'peptic ulcer disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_0009488 spinal cord disease 'spinal cord disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spinal cord') 'spinal cord disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'spinal cord' http://www.ebi.ac.uk/efo/EFO_0009484 uterine polyp 'uterine polyp' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterus') 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' http://www.ebi.ac.uk/efo/EFO_0009491 adrenocortical insufficiency 'adrenocortical insufficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0034651 http://www.ebi.ac.uk/efo/EFO_0009490 nervous system injury 'nervous system injury' EquivalentTo 'injury' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nervous system') http://www.ebi.ac.uk/efo/EFO_0009477 vertebral joint disease 'vertebral joint disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001468 'vertebral joint disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001468) http://www.ebi.ac.uk/efo/EFO_0009478 vocal cord polyp 'vocal cord polyp' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003706 'vocal cord polyp' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003706) http://www.ebi.ac.uk/efo/EFO_0009475 cervical polyp 'cervical polyp' SubClassOf 'female genital tract polyp' 'cervical polyp' SubClassOf 'cervix disorder' 'cervical polyp' EquivalentTo 'polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') 'cervical polyp' SubClassOf 'uterine polyp' http://www.ebi.ac.uk/efo/EFO_0009481 paranasal sinus disease 'paranasal sinus disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001825) 'paranasal sinus disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001825 http://www.ebi.ac.uk/efo/EFO_0009483 breast disease 'breast disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'breast' 'breast disease' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0011504 NDE1-related microhydranencephaly 'NDE1-related microhydranencephaly' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011500 Becker nevus syndrome 'Becker nevus syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011517 pseudohyperaldosteronism type 2 'pseudohyperaldosteronism type 2' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_1168 Ataxia - oculomotor apraxia type 1 'Ataxia - oculomotor apraxia type 1' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0011537 macrocephaly-autism syndrome 'macrocephaly-autism syndrome' SubClassOf 'bearer_of' some 'rare' 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 http://purl.obolibrary.org/obo/HP_0000982 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0002224 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001644 http://purl.obolibrary.org/obo/MONDO_0011595 nonsyndromic congenital nail disorder 7 'nonsyndromic congenital nail disorder 7' SubClassOf 'bearer_of' some 'congenital' http://www.orpha.net/ORDO/Orphanet_33001 Lymphedema - distichiasis 'Lymphedema - distichiasis' SubClassOf 'hereditary skin disorder' 'Lymphedema - distichiasis' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_371439 Genetic cerebrovascular dementia 'Genetic cerebrovascular dementia' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/GO_0009101 glycoprotein biosynthetic process 'glycoprotein biosynthetic process' SubClassOf 'protein metabolic process' 'glycoprotein biosynthetic process' SubClassOf http://purl.obolibrary.org/obo/GO_0009100 http://purl.obolibrary.org/obo/HP_0004925 Chronic lactic acidosis 'Chronic lactic acidosis' SubClassOf 'Abnormality of metabolism/homeostasis' 'Chronic lactic acidosis' SubClassOf http://purl.obolibrary.org/obo/HP_0003128 http://purl.obolibrary.org/obo/UBERON_0002518 otolith organ 'otolith organ' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001862 http://purl.obolibrary.org/obo/UBERON_0002524 mediastinal lymph node 'mediastinal lymph node' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002075 http://purl.obolibrary.org/obo/UBERON_0002536 arthropod sensillum 'arthropod sensillum' SubClassOf 'part of' some 'anatomical system' 'arthropod sensillum' SubClassOf 'anatomical structure' 'arthropod sensillum' SubClassOf 'part of' some 'sensory system' 'arthropod sensillum' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000020 http://www.ebi.ac.uk/efo/EFO_0009314 blood coagulation disease 'blood coagulation disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'blood coagulation' 'blood coagulation disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004024 some 'blood coagulation') http://purl.obolibrary.org/obo/HP_0004902 Congenital lactic acidosis 'Congenital lactic acidosis' SubClassOf 'Abnormality of metabolism/homeostasis' 'Congenital lactic acidosis' SubClassOf http://purl.obolibrary.org/obo/HP_0003128 http://www.ebi.ac.uk/efo/EFO_0009361 colorectal mucinous adenocarcinoma 'colorectal mucinous adenocarcinoma' SubClassOf 'colorectal adenocarcinoma' 'colorectal mucinous adenocarcinoma' SubClassOf 'colonic neoplasm' 'colorectal mucinous adenocarcinoma' SubClassOf 'colon adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0009385 familial tumoral calcinosis 'familial tumoral calcinosis' SubClassOf 'inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0009386 central nervous system disease 'central nervous system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system' 'central nervous system disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://www.ebi.ac.uk/efo/EFO_0009387 peripheral nervous system disease 'peripheral nervous system disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peripheral nervous system') 'peripheral nervous system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'peripheral nervous system' http://www.ebi.ac.uk/efo/EFO_0009383 tumoral calcinosis, hyperphosphatemic, familial, 2 'tumoral calcinosis, hyperphosphatemic, familial, 2' SubClassOf 'inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0009384 tumoral calcinosis, hyperphosphatemic, familial, 3 'tumoral calcinosis, hyperphosphatemic, familial, 3' SubClassOf 'inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0009380 facial neuralgia 'facial neuralgia' EquivalentTo 'neuralgia' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001647) http://www.orpha.net/ORDO/Orphanet_1021 Amaurosis - hypertrichosis 'Amaurosis - hypertrichosis' SubClassOf 'Retinal dystrophy' 'Amaurosis - hypertrichosis' SubClassOf 'Genetic vitreous-retinal disease' http://www.ebi.ac.uk/efo/EFO_0010284 hepatobiliary disease 'hepatobiliary disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hepatobiliary system') 'hepatobiliary disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'hepatobiliary system' http://www.ebi.ac.uk/efo/EFO_0010285 integumentary system disease 'integumentary system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'integumental system' 'integumentary system disease' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0011405 poikiloderma with neutropenia 'poikiloderma with neutropenia' SubClassOf 'disease has feature' some 'neutropenia' http://purl.obolibrary.org/obo/MONDO_0011400 dilated cardiomyopathy 1G 'dilated cardiomyopathy 1G' SubClassOf 'hereditary neurological disease' 'dilated cardiomyopathy 1G' SubClassOf 'qualitative or quantitative defects of titin' 'dilated cardiomyopathy 1G' SubClassOf 'autosomal dominant titinopathy' http://purl.obolibrary.org/obo/MONDO_0011417 hemochromatosis type 3 'hemochromatosis type 3' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011411 Chudley-McCullough syndrome 'Chudley-McCullough syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011426 aceruloplasminemia 'aceruloplasminemia' SubClassOf 'disease arises from feature' some 'Abnormality of iron homeostasis' http://purl.obolibrary.org/obo/MONDO_0011424 Carney triad 'Carney triad' SubClassOf 'disease has feature' some 'gastrointestinal stromal tumor' 'Carney triad' SubClassOf 'disease has feature' some 'extra-adrenal sympathetic paraganglioma' 'Carney triad' SubClassOf 'disease has feature' some 'lung neoplasm' 'Carney triad' SubClassOf 'bearer_of' some 'acquired' http://www.orpha.net/ORDO/Orphanet_1008 Alopecia - epilepsy - pyorrhea - intellectual disability 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'hereditary skin disorder' 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_1014 Alopecia - intellectual disability - hypergonadotropic hypogonadism 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'hereditary skin disorder' 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 'hereditary spastic paraplegia 11' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011487 Huntington disease-like 3 'Huntington disease-like 3' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016107 myotonic dystrophy 'myotonic dystrophy' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0043484 http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease 'acquired skeletal muscle disease' EquivalentTo 'skeletal muscle disorder' and ('bearer_of' some 'acquired') 'acquired skeletal muscle disease' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0016120 myotonic syndrome 'myotonic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0002486) 'myotonic syndrome' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0002486 http://purl.obolibrary.org/obo/MONDO_0016146 caveolinopathy 'caveolinopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005901 http://purl.obolibrary.org/obo/MONDO_0016140 sarcoglycanopathy 'sarcoglycanopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0016012 'sarcoglycanopathy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0016012) http://purl.obolibrary.org/obo/MONDO_0016158 narcolepsy-cataplexy syndrome 'narcolepsy-cataplexy syndrome' SubClassOf 'narcolepsy' 'narcolepsy-cataplexy syndrome' SubClassOf 'bearer_of' some 'rare' 'narcolepsy-cataplexy syndrome' SubClassOf 'narcolepsy' http://purl.obolibrary.org/obo/MONDO_0016165 hereditary hypoparathyroidism 'hereditary hypoparathyroidism' EquivalentTo 'hypoparathyroidism' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016166 hereditary hyperparathyroidism 'hereditary hyperparathyroidism' EquivalentTo 'hyperparathyroidism' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016167 optic pathway glioma 'optic pathway glioma' EquivalentTo 'glioma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001908) http://www.ebi.ac.uk/efo/EFO_0004777 alcohol withdrawal 'alcohol withdrawal' SubClassOf 'substance withdrawal syndrome' 'alcohol withdrawal' SubClassOf 'substance withdrawal syndrome' http://purl.obolibrary.org/obo/DOID_13406 pulmonary sarcoidosis 'pulmonary sarcoidosis' EquivalentTo 'sarcoidosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016027 benign neonatal seizures 'benign neonatal seizures' SubClassOf 'neonatal period electroclinical syndrome' 'benign neonatal seizures' SubClassOf 'neonatal period electroclinical syndrome' http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astatic epilepsy 'myoclonic-astatic epilepsy' SubClassOf 'syndromic disease' 'myoclonic-astatic epilepsy' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0004718 vascular dementia 'vascular dementia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brain blood vessel' http://purl.obolibrary.org/obo/MONDO_0016047 endophthalmitis 'endophthalmitis' SubClassOf 'disease has inflammation site' some 'eyeball of camera-type eye' 'endophthalmitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'eyeball of camera-type eye') http://purl.obolibrary.org/obo/MONDO_0016040 harlequin syndrome 'harlequin syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016043 isolated cleft lip 'isolated cleft lip' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0016060 laryngotracheoesophageal cleft 'laryngotracheoesophageal cleft' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004704 age at menopause 'age at menopause' SubClassOf 'is_about' some 'menopause' 'age at menopause' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/GO_0042697 http://purl.obolibrary.org/obo/MONDO_0016056 isolated congenital microcephaly 'isolated congenital microcephaly' SubClassOf 'microcephaly' 'isolated congenital microcephaly' SubClassOf 'bearer_of' some 'rare' 'isolated congenital microcephaly' SubClassOf 'microcephaly' http://purl.obolibrary.org/obo/MONDO_0016052 atypical autism 'atypical autism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016070 hereditary gingival fibromatosis 'hereditary gingival fibromatosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004606 gallbladder neoplasm 'gallbladder neoplasm' SubClassOf 'biliary tract neoplasm' 'gallbladder neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') http://purl.obolibrary.org/obo/MONDO_0016073 syndromic microphthalmia 'syndromic microphthalmia' SubClassOf 'microphthalmia' 'syndromic microphthalmia' EquivalentTo 'microphthalmia' and ('bearer_of' some 'has a syndromic presentation') 'syndromic microphthalmia' SubClassOf 'microphthalmia' http://purl.obolibrary.org/obo/MONDO_0016075 filariasis 'filariasis' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_96 Ataxia with vitamin E deficiency 'Ataxia with vitamin E deficiency' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/UBERON_0012652 colorectum 'colorectum' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://www.ebi.ac.uk/efo/EFO_1000868 chronic inflammatory demyelinating polyradiculoneuropathy 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'demyelinating polyneuropathy' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'demyelinating polyneuropathy' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'chronic polyneuropathy' 'chronic inflammatory demyelinating polyradiculoneuropathy' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1000866 choroid cancer 'choroid cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001776) http://www.ebi.ac.uk/efo/EFO_1000865 choledocholithiasis 'choledocholithiasis' EquivalentTo 'gallstones' and (http://purl.obolibrary.org/obo/RO_0004026 some 'common bile duct') http://purl.obolibrary.org/obo/HP_0000282 Facial edema 'Facial edema' SubClassOf 'Abnormality of metabolism/homeostasis' 'Facial edema' SubClassOf http://purl.obolibrary.org/obo/HP_0000969 http://www.ebi.ac.uk/efo/EFO_1000870 CNS demyelinating autoimmune disease 'CNS demyelinating autoimmune disease' SubClassOf 'central nervous system disease' 'CNS demyelinating autoimmune disease' SubClassOf 'neuroinflammatory disorder' http://www.ebi.ac.uk/efo/EFO_1000876 common bile duct neoplasm 'common bile duct neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'common bile duct') http://www.ebi.ac.uk/efo/EFO_1000884 cranial nerve malignant neoplasm 'cranial nerve malignant neoplasm' SubClassOf 'brain neoplasm' 'cranial nerve malignant neoplasm' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001785) 'cranial nerve malignant neoplasm' SubClassOf 'brain cancer' http://www.ebi.ac.uk/efo/EFO_1000883 coronary thrombosis 'coronary thrombosis' EquivalentTo 'thrombotic disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005985) http://www.ebi.ac.uk/efo/EFO_1000896 diabetic angiopathy 'diabetic angiopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004025 some 'pericyte' http://www.ebi.ac.uk/efo/EFO_1000898 diaphragmatic eventration 'diaphragmatic eventration' SubClassOf 'hereditary skeletal muscle disorder' 'diaphragmatic eventration' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004991 Myasthenia gravis 'Myasthenia gravis' SubClassOf 'peripheral neuropathy' 'Myasthenia gravis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000774 http://www.ebi.ac.uk/efo/EFO_0004992 Otitis media 'Otitis media' EquivalentTo 'disease' and ('disease has inflammation site' some 'middle ear') 'Otitis media' SubClassOf 'disease has inflammation site' some 'middle ear' http://www.ebi.ac.uk/efo/EFO_1000800 alcohol withdrawal delirium 'alcohol withdrawal delirium' SubClassOf 'alcohol withdrawal' 'alcohol withdrawal delirium' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0031258 'alcohol withdrawal delirium' SubClassOf 'alcohol withdrawal' http://www.ebi.ac.uk/efo/EFO_1000816 aortitis 'aortitis' SubClassOf 'disease has inflammation site' some 'aorta' 'aortitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'aorta') http://www.ebi.ac.uk/efo/EFO_1000810 anterior spinal artery syndrome 'anterior spinal artery syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005431) 'anterior spinal artery syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005431 http://www.ebi.ac.uk/efo/EFO_1000828 B- and T-cell mixed leukemia 'B- and T-cell mixed leukemia' SubClassOf 'inherited acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000837 beriberi 'beriberi' SubClassOf 'disease causes feature' some 'Wernicke-Korsakoff syndrome' http://www.ebi.ac.uk/efo/EFO_1000833 balanitis 'balanitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001299 'balanitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001299) http://www.ebi.ac.uk/efo/EFO_1000849 bronchial neoplasm 'bronchial neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bronchus') http://www.ebi.ac.uk/efo/EFO_1000847 brain stem infarction 'brain stem infarction' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brainstem' 'brain stem infarction' EquivalentTo 'brain infarction' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brainstem') http://www.ebi.ac.uk/efo/EFO_1000844 brachial plexus neuropathy 'brachial plexus neuropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001814 'brachial plexus neuropathy' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001814) http://www.ebi.ac.uk/efo/EFO_1000843 brachial plexus neuritis 'brachial plexus neuritis' EquivalentTo 'neuritis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001814) http://www.ebi.ac.uk/efo/EFO_1000852 carcinoid syndrome 'carcinoid syndrome' SubClassOf 'disease has feature' some 'carcinoid tumor' 'carcinoid syndrome' EquivalentTo 'syndromic disease' and ('disease has feature' some 'carcinoid tumor') http://www.ebi.ac.uk/efo/EFO_1000850 burning mouth syndrome 'burning mouth syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000981 ileal neoplasm 'ileal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ileum') 'ileal neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'ileum' http://www.ebi.ac.uk/efo/EFO_1000982 inappropriate ADH syndrome 'inappropriate ADH syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0030103 http://www.ebi.ac.uk/efo/EFO_1000998 jejunal cancer 'jejunal cancer' SubClassOf 'small intestine cancer' 'jejunal cancer' SubClassOf 'small intestine cancer' 'jejunal cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'jejunum') http://www.ebi.ac.uk/efo/EFO_1000999 joint disease 'joint disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'skeletal joint' 'joint disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'skeletal joint') http://www.ebi.ac.uk/efo/EFO_1000996 iris cancer 'iris cancer' SubClassOf 'eye neoplasm' 'iris cancer' SubClassOf 'uveal cancer' 'iris cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'iris') 'iris cancer' SubClassOf 'iris neoplasm' http://www.ebi.ac.uk/efo/EFO_1000997 iritis 'iritis' SubClassOf 'disease has inflammation site' some 'iris' 'iritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'iris') http://www.ebi.ac.uk/efo/EFO_1000900 discitis 'discitis' SubClassOf 'disease has inflammation site' some 'intervertebral disk' 'discitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'intervertebral disk') http://www.ebi.ac.uk/efo/EFO_1000907 duodenal benign neoplasm 'duodenal benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'duodenum') http://www.ebi.ac.uk/efo/EFO_1000905 drug-induced hepatitis 'drug-induced hepatitis' SubClassOf 'drug-induced liver injury' 'drug-induced hepatitis' SubClassOf 'disease has inflammation site' some 'liver' 'drug-induced hepatitis' SubClassOf 'inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1000917 endocrine tuberculosis 'endocrine tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine gland') 'endocrine tuberculosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine gland' http://www.ebi.ac.uk/efo/EFO_1000925 epithelioid and spindle cell nevus 'epithelioid and spindle cell nevus' SubClassOf 'melanoma' 'epithelioid and spindle cell nevus' SubClassOf 'cutaneous melanoma' http://www.ebi.ac.uk/efo/EFO_1000926 Erdheim-Chester disease 'Erdheim-Chester disease' SubClassOf 'disease has feature' some 'Histiocytic and Dendritic Cell Neoplasm' http://www.ebi.ac.uk/efo/EFO_1000921 endomyocardial fibrosis 'endomyocardial fibrosis' SubClassOf 'cardiovascular neoplasm' http://www.ebi.ac.uk/efo/EFO_1000920 endometrial stromal tumor 'endometrial stromal tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002337) 'endometrial stromal tumor' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002337 http://purl.obolibrary.org/obo/MONDO_0031481 microcephaly, epilepsy, and diabetes syndrome 1 'microcephaly, epilepsy, and diabetes syndrome 1' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000936 femoral neuropathy 'femoral neuropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001267 'femoral neuropathy' EquivalentTo 'peripheral nerve lesion' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001267) http://www.ebi.ac.uk/efo/EFO_1000937 fetal erythroblastosis 'fetal erythroblastosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'erythroblast' http://www.ebi.ac.uk/efo/EFO_1000934 eyelid neoplasm 'eyelid neoplasm' SubClassOf 'bearer_of' some 'rare' 'eyelid neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyelid') http://www.ebi.ac.uk/efo/EFO_1000933 extrahepatic cholestasis 'extrahepatic cholestasis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003703 'extrahepatic cholestasis' EquivalentTo 'cholestasis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003703) http://www.ebi.ac.uk/efo/EFO_1000945 gastric antral vascular ectasia 'gastric antral vascular ectasia' SubClassOf 'vascular ectasia' 'gastric antral vascular ectasia' SubClassOf 'vascular ectasia' http://www.ebi.ac.uk/efo/EFO_1000951 glossitis 'glossitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'tongue') 'glossitis' SubClassOf 'disease has inflammation site' some 'tongue' http://www.ebi.ac.uk/efo/EFO_1000978 hypervitaminosis A 'hypervitaminosis A' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'vitamin A metabolic process' http://www.ebi.ac.uk/efo/EFO_1000979 hypothalamic neoplasm 'hypothalamic neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hypothalamus') http://www.ebi.ac.uk/efo/EFO_1000977 hypertensive retinopathy 'hypertensive retinopathy' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0000822 'hypertensive retinopathy' EquivalentTo 'retinopathy' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0000822) http://purl.obolibrary.org/obo/HP_0000407 Sensorineural hearing impairment 'Sensorineural hearing impairment' SubClassOf 'Hearing abnormality' 'Sensorineural hearing impairment' SubClassOf http://purl.obolibrary.org/obo/HP_0000365 http://purl.obolibrary.org/obo/HP_0000405 Conductive hearing impairment 'Conductive hearing impairment' SubClassOf 'Hearing abnormality' 'Conductive hearing impairment' SubClassOf http://purl.obolibrary.org/obo/HP_0000365 http://purl.obolibrary.org/obo/MONDO_0021925 tracheobronchitis 'tracheobronchitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0007196 'tracheobronchitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0007196) http://www.ebi.ac.uk/efo/EFO_1000620 Vaginal Squamous Cell Carcinoma 'Vaginal Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vagina') http://www.ebi.ac.uk/efo/EFO_1000627 thyroid disease 'thyroid disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') 'thyroid disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland' http://www.ebi.ac.uk/efo/EFO_1000624 Vulvar Squamous Cell Carcinoma 'Vulvar Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://www.ebi.ac.uk/efo/EFO_1000622 VIP-Producing Neuroendocrine Tumor 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'pancreas disease' 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'neuroendocrine neoplasm' 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'pancreatic neoplasm' 'VIP-Producing Neuroendocrine Tumor' SubClassOf 'digestive system neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000623 Vulvar Lichen Sclerosus 'Vulvar Lichen Sclerosus' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva' 'Vulvar Lichen Sclerosus' EquivalentTo 'lichen sclerosus et atrophicus' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0021944 auditory neuropathy 'auditory neuropathy' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0021945 hearing disorder 'hearing disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'sensory perception of sound' http://www.ebi.ac.uk/efo/EFO_1000630 marginal zone B-cell lymphoma 'marginal zone B-cell lymphoma' SubClassOf 'gastrointestinal lymphoma' 'marginal zone B-cell lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'marginal zone B cell of spleen') 'marginal zone B-cell lymphoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'marginal zone B cell of spleen' http://www.ebi.ac.uk/efo/EFO_1000639 acquired metabolic disease 'acquired metabolic disease' SubClassOf 'bearer_of' some 'acquired' 'acquired metabolic disease' EquivalentTo 'metabolic disease' and ('bearer_of' some 'acquired') http://www.ebi.ac.uk/efo/EFO_1000640 basal ganglia cerebrovascular disease 'basal ganglia cerebrovascular disease' EquivalentTo 'cerebrovascular disorder' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0010011) http://www.ebi.ac.uk/efo/EFO_1000648 developmental dysplasia of the hip 'developmental dysplasia of the hip' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001384 http://www.ebi.ac.uk/efo/EFO_1000647 renal tubular transport disease 'renal tubular transport disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/UBERON_0009773 http://www.ebi.ac.uk/efo/EFO_1000657 rectum cancer 'rectum cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://www.ebi.ac.uk/efo/EFO_1000663 acquired keratosis 'acquired keratosis' EquivalentTo 'keratosis' and ('bearer_of' some 'acquired') 'acquired keratosis' SubClassOf 'bearer_of' some 'acquired' http://www.ebi.ac.uk/efo/EFO_1000666 acrokeratosis verruciformis 'acrokeratosis verruciformis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000667 adiposis dolorosa 'adiposis dolorosa' SubClassOf 'integumentary system benign neoplasm' http://www.ebi.ac.uk/efo/EFO_1000670 anhidrosis 'anhidrosis' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0000970 http://www.ebi.ac.uk/efo/EFO_1000677 cholesteatoma of external ear 'cholesteatoma of external ear' EquivalentTo 'cholesteatoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'external ear') http://www.ebi.ac.uk/efo/EFO_1000678 cholesteatoma of middle ear 'cholesteatoma of middle ear' EquivalentTo 'cholesteatoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'middle ear') http://www.ebi.ac.uk/efo/EFO_1000681 congenital generalized lipodystrophy 'congenital generalized lipodystrophy' EquivalentTo 'generalized lipodystrophy' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_1000697 exanthem 'exanthem' SubClassOf 'disease has feature' some 'exanthem' http://www.ebi.ac.uk/efo/EFO_1000691 epidermolysis bullosa acquisita 'epidermolysis bullosa acquisita' SubClassOf 'bearer_of' some 'acquired' 'epidermolysis bullosa acquisita' EquivalentTo 'epidermolysis bullosa' and ('bearer_of' some 'acquired') http://www.ebi.ac.uk/efo/EFO_1000699 fibroepithelial polyp of the anus 'fibroepithelial polyp of the anus' EquivalentTo 'fibroepithelial polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245) http://www.ebi.ac.uk/efo/EFO_1000606 Undifferentiated Pancreatic Carcinoma 'Undifferentiated Pancreatic Carcinoma' EquivalentTo 'undifferentiated carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas') 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 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000604 Undifferentiated Gallbladder Carcinoma 'Undifferentiated Gallbladder Carcinoma' SubClassOf 'undifferentiated carcinoma of liver and intrahepatic biliary tract' 'Undifferentiated Gallbladder Carcinoma' EquivalentTo 'undifferentiated carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') http://www.ebi.ac.uk/efo/EFO_1000605 Undifferentiated Ovarian Carcinoma 'Undifferentiated Ovarian Carcinoma' EquivalentTo 'undifferentiated carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000600 Tracheal Squamous Cell Carcinoma 'Tracheal Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'trachea') http://www.ebi.ac.uk/efo/EFO_1000601 Transitional Cell Carcinoma 'Transitional Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/CL_0000244 'Transitional Cell Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/CL_0000244) http://www.ebi.ac.uk/efo/EFO_1000609 Ureter Carcinoma 'Ureter Carcinoma' SubClassOf 'renal carcinoma' 'Ureter Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ureter') http://www.ebi.ac.uk/efo/EFO_1000610 Ureter Small Cell Carcinoma 'Ureter Small Cell Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ureter') http://www.ebi.ac.uk/efo/EFO_1000616 Uveal Melanoma 'Uveal Melanoma' SubClassOf 'bearer_of' some 'rare' 'Uveal Melanoma' EquivalentTo 'melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001768) http://www.ebi.ac.uk/efo/EFO_1000613 Uterine Carcinosarcoma 'Uterine Carcinosarcoma' EquivalentTo 'carcinosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterus') http://www.ebi.ac.uk/efo/EFO_1000619 Vaginal Melanoma 'Vaginal Melanoma' EquivalentTo 'melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vagina') http://www.orpha.net/ORDO/Orphanet_228366 CLN7 disease 'CLN7 disease' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_1000746 panniculitis 'panniculitis' SubClassOf 'disease has inflammation site' some 'subcutaneous adipose tissue' 'panniculitis' SubClassOf 'rheumatic disease' 'panniculitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'subcutaneous adipose tissue') http://www.orpha.net/ORDO/Orphanet_228363 CLN6 disease 'CLN6 disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228360 CLN5 disease 'CLN5 disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228354 CLN8 disease 'CLN8 disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228357 CLN9 disease 'CLN9 disease' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_1000756 pityriasis rosea 'pityriasis rosea' SubClassOf 'exanthem' 'pityriasis rosea' SubClassOf 'exanthem' http://www.ebi.ac.uk/efo/EFO_1000763 sebaceous gland disease 'sebaceous gland disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001821 'sebaceous gland disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001821) http://www.ebi.ac.uk/efo/EFO_1000767 skin sarcoidosis 'skin sarcoidosis' EquivalentTo 'sarcoidosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://www.ebi.ac.uk/efo/EFO_1000765 seborrheic infantile dermatitis 'seborrheic infantile dermatitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000403 'seborrheic infantile dermatitis' EquivalentTo 'seborrheic dermatitis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000403) http://www.ebi.ac.uk/efo/EFO_1000772 sweat gland disease 'sweat gland disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sweat gland') 'sweat gland disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'sweat gland' http://www.ebi.ac.uk/efo/EFO_1000778 vulvar inverted follicular keratosis 'vulvar inverted follicular keratosis' EquivalentTo 'inverted follicular keratosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://www.ebi.ac.uk/efo/EFO_1000779 vulvar seborrheic keratosis 'vulvar seborrheic keratosis' EquivalentTo 'seborrheic keratosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://www.ebi.ac.uk/efo/EFO_1000777 vulva fibroepithelial polyp 'vulva fibroepithelial polyp' EquivalentTo 'fibroepithelial polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://www.ebi.ac.uk/efo/EFO_1000783 diabetic neuropathy 'diabetic neuropathy' SubClassOf 'autonomic nervous system disease' http://www.ebi.ac.uk/efo/EFO_1000796 adrenal cortex carcinoma 'adrenal cortex carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal cortex') http://www.ebi.ac.uk/efo/EFO_1000790 acalculous cholecystitis 'acalculous cholecystitis' SubClassOf 'disease has inflammation site' some 'gallbladder' http://www.orpha.net/ORDO/Orphanet_228329 CLN1 disease 'CLN1 disease' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_1000706 hand dermatosis 'hand dermatosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002398 http://www.ebi.ac.uk/efo/EFO_1000701 follicular mucinosis 'follicular mucinosis' EquivalentTo 'cutaneous focal mucinosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hair follicle') 'follicular mucinosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'hair follicle' http://www.ebi.ac.uk/efo/EFO_1000702 folliculitis 'folliculitis' EquivalentTo 'dermatitis' and ('disease has inflammation site' some 'hair follicle') 'folliculitis' SubClassOf 'disease has inflammation site' some 'hair follicle' http://www.ebi.ac.uk/efo/EFO_1000700 fibroepithelial polyp of urethra 'fibroepithelial polyp of urethra' EquivalentTo 'fibroepithelial polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urethra') http://www.ebi.ac.uk/efo/EFO_1000709 pemphigoid gestationis 'pemphigoid gestationis' SubClassOf 'pemphigus' 'pemphigoid gestationis' SubClassOf 'pregnancy disorder' 'pemphigoid gestationis' SubClassOf 'pregnancy disorder' 'pemphigoid gestationis' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_1000707 hemangioma of subcutaneous tissue 'hemangioma of subcutaneous tissue' EquivalentTo 'hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0011818) http://www.ebi.ac.uk/efo/EFO_0700020 Birt-Hogg-Dube syndrome 'Birt-Hogg-Dube syndrome' SubClassOf 'inherited kidney disorder' http://www.ebi.ac.uk/efo/EFO_1000711 hyperpigmentation of eyelid 'hyperpigmentation of eyelid' SubClassOf 'hereditary skin disorder' http://www.orpha.net/ORDO/Orphanet_228343 CLN4B disease 'CLN4B disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228349 CLN2 disease 'CLN2 disease' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_228346 CLN3 disease 'CLN3 disease' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_1000720 keratosis 'keratosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002027 http://www.ebi.ac.uk/efo/EFO_1000727 lipodystrophy 'lipodystrophy' EquivalentTo 'disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0009125) 'lipodystrophy' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0009125 http://www.ebi.ac.uk/efo/EFO_1000728 lipomatosis 'lipomatosis' SubClassOf 'skin disease' 'lipomatosis' SubClassOf 'benign neoplasm of skin' http://www.ebi.ac.uk/efo/EFO_1000721 kernicterus due to isoimmunization 'kernicterus due to isoimmunization' SubClassOf 'hereditary skin disorder' http://www.orpha.net/ORDO/Orphanet_228340 CLN4A disease 'CLN4A disease' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_1000729 loiasis 'loiasis' SubClassOf 'skin disease' 'loiasis' SubClassOf 'parasitic skin disorder' http://www.ebi.ac.uk/efo/EFO_1000730 Ludwig's angina 'Ludwig's angina' EquivalentTo 'cellulitis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mouth floor') 'Ludwig's angina' SubClassOf 'digestive system infectious disorder' 'Ludwig's angina' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mouth floor' http://www.ebi.ac.uk/efo/EFO_1000731 maxillary sinus cholesteatoma 'maxillary sinus cholesteatoma' EquivalentTo 'cholesteatoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001764) 'maxillary sinus cholesteatoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001764 http://www.ebi.ac.uk/efo/EFO_1000736 mongolian spot 'mongolian spot' SubClassOf http://purl.obolibrary.org/obo/RO_0004025 some 'melanocyte' http://www.ebi.ac.uk/efo/EFO_1000737 multiple symmetric lipomatosis 'multiple symmetric lipomatosis' SubClassOf 'bearer_of' some 'rare' 'multiple symmetric lipomatosis' SubClassOf 'integumentary system benign neoplasm' 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_1000466 Penile Fibromatosis 'Penile Fibromatosis' SubClassOf 'Superficial Fibromatosis' 'Penile Fibromatosis' SubClassOf 'penile neoplasm' 'Penile Fibromatosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0008231 http://www.ebi.ac.uk/efo/EFO_1000467 Peritoneal Mesothelioma 'Peritoneal Mesothelioma' EquivalentTo 'mesothelioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum') http://www.ebi.ac.uk/efo/EFO_1000465 Penile Carcinoma 'Penile Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'penis') http://www.ebi.ac.uk/efo/EFO_1000463 Parotid Gland Squamous Cell Carcinoma 'Parotid Gland Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parotid gland') http://www.ebi.ac.uk/efo/EFO_1000460 Parotid Gland Carcinoma 'Parotid Gland Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parotid gland') http://www.ebi.ac.uk/efo/EFO_1000461 Parotid Gland Carcinoma ex Pleomorphic Adenoma 'Parotid Gland Carcinoma ex Pleomorphic Adenoma' EquivalentTo 'carcinoma ex pleomorphic adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parotid gland') http://www.ebi.ac.uk/efo/EFO_1000478 Pituitary Gland Adenoma 'Pituitary Gland Adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') http://www.ebi.ac.uk/efo/EFO_1000471 Peutz-Jeghers Polyp of the Stomach 'Peutz-Jeghers Polyp of the Stomach' EquivalentTo 'Peutz-Jeghers Polyp' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.orpha.net/ORDO/Orphanet_1947 Progressive epilepsy - intellectual disability, Finnish type 'Progressive epilepsy - intellectual disability, Finnish type' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_1000479 Placental Choriocarcinoma 'Placental Choriocarcinoma' EquivalentTo 'choriocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'placenta') http://www.ebi.ac.uk/efo/EFO_1000480 Placental Hemangioma 'Placental Hemangioma' EquivalentTo 'hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'placenta') http://www.ebi.ac.uk/efo/EFO_1000481 Plantar Fibromatosis 'Plantar Fibromatosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0008338 'Plantar Fibromatosis' EquivalentTo 'Superficial Fibromatosis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0008338) http://www.ebi.ac.uk/efo/EFO_1000486 Pleural Sarcomatoid Mesothelioma 'Pleural Sarcomatoid Mesothelioma' EquivalentTo 'Sarcomatoid Mesothelioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pleura') http://www.ebi.ac.uk/efo/EFO_1000484 Pleural Epithelioid Mesothelioma 'Pleural Epithelioid Mesothelioma' EquivalentTo 'malignant epithelioid mesothelioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pleura') http://www.ebi.ac.uk/efo/EFO_1000485 Pleural Mesothelioma 'Pleural Mesothelioma' EquivalentTo 'mesothelioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pleura') 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 'cancer' 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'lymphatic system cancer' http://www.ebi.ac.uk/efo/EFO_1000499 Prostate Small Cell Carcinoma 'Prostate Small Cell Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://www.ebi.ac.uk/efo/EFO_1000498 Prostate Rhabdomyosarcoma 'Prostate Rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://www.ebi.ac.uk/efo/EFO_1000495 Primary Pulmonary Diffuse Large B-Cell Lymphoma 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf 'immune system cancer' 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphatic system cancer' 'Primary Pulmonary Diffuse Large B-Cell Lymphoma' EquivalentTo 'diffuse large B-cell lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/HP_0000664 Synophrys 'Synophrys' SubClassOf 'Abnormality of the integument' 'Synophrys' SubClassOf 'Abnormality of the face' 'Synophrys' SubClassOf http://purl.obolibrary.org/obo/HP_0000998 'Synophrys' SubClassOf http://purl.obolibrary.org/obo/HP_0000534 http://www.ebi.ac.uk/efo/EFO_1000401 Non-Seminomatous Lesion 'Non-Seminomatous Lesion' SubClassOf 'testicular disease' 'Non-Seminomatous Lesion' SubClassOf 'neoplasm of testis' http://www.ebi.ac.uk/efo/EFO_1000407 Olfactory Neuroblastoma 'Olfactory Neuroblastoma' SubClassOf 'respiratory system disease' 'Olfactory Neuroblastoma' SubClassOf 'respiratory system cancer' http://www.ebi.ac.uk/efo/EFO_1000403 Ocular Melanoma 'Ocular Melanoma' EquivalentTo 'melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyeball of camera-type eye') http://www.ebi.ac.uk/efo/EFO_1000412 Ovarian Carcinosarcoma 'Ovarian Carcinosarcoma' EquivalentTo 'carcinosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000419 Ovarian Germ Cell Tumor 'Ovarian Germ Cell Tumor' EquivalentTo 'germ cell tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000418 Ovarian Endometriosis 'Ovarian Endometriosis' EquivalentTo 'endometriosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000415 Ovarian Embryonal Carcinoma 'Ovarian Embryonal Carcinoma' EquivalentTo 'embryonal carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000416 Ovarian Endometrioid Adenocarcinoma 'Ovarian Endometrioid Adenocarcinoma' EquivalentTo 'endometrium adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000413 Ovarian Choriocarcinoma 'Ovarian Choriocarcinoma' EquivalentTo 'choriocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000414 Ovarian Dysgerminoma 'Ovarian Dysgerminoma' EquivalentTo 'dysgerminoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_0000216 acinar cell carcinoma 'acinar cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'acinar cell' 'acinar cell carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'acinar cell') http://www.ebi.ac.uk/efo/EFO_0000217 gastritis 'gastritis' SubClassOf 'disease has inflammation site' some 'stomach' 'gastritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'stomach') http://www.ebi.ac.uk/efo/EFO_1000428 Ovarian Serous Adenofibroma 'Ovarian Serous Adenofibroma' EquivalentTo 'serous adenofibroma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000431 Ovarian Small Cell Carcinoma 'Ovarian Small Cell Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000432 Ovarian Squamous Cell Carcinoma 'Ovarian Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000439 Pancreatic Acinar Cell Carcinoma 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'bearer_of' some 'rare' 'Pancreatic Acinar Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/CL_0002064 'Pancreatic Acinar Cell Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/CL_0002064) http://www.ebi.ac.uk/efo/EFO_0000209 T-cell acute lymphoblastic leukemia 'T-cell acute lymphoblastic leukemia' SubClassOf 'T-cell leukemia' http://www.ebi.ac.uk/efo/EFO_1000437 Ovarian Yolk Sac Tumor 'Ovarian Yolk Sac Tumor' EquivalentTo 'endodermal sinus tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000438 Palmar Fibromatosis 'Palmar Fibromatosis' EquivalentTo 'fibromatosis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0008878) 'Palmar Fibromatosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0008878 http://www.ebi.ac.uk/efo/EFO_1000435 Ovarian Transitional Cell Carcinoma 'Ovarian Transitional Cell Carcinoma' EquivalentTo 'Transitional Cell Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1000444 Pancreatic Small Cell Neuroendocrine Carcinoma 'Pancreatic Small Cell Neuroendocrine Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine pancreas') http://www.ebi.ac.uk/efo/EFO_1000445 Pancreatic Vipoma 'Pancreatic Vipoma' SubClassOf 'pancreas disease' 'Pancreatic Vipoma' SubClassOf 'pancreatic neoplasm' http://www.ebi.ac.uk/efo/EFO_0000232 adenoma 'adenoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'gland' http://www.ebi.ac.uk/efo/EFO_1000442 Pancreatic Large Cell Neuroendocrine Carcinoma 'Pancreatic Large Cell Neuroendocrine Carcinoma' EquivalentTo 'large cell neuroendocrine carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas') http://www.ebi.ac.uk/efo/EFO_0000233 adenosquamous lung carcinoma 'adenosquamous lung carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_1000440 Pancreatic Gastrinoma 'Pancreatic Gastrinoma' SubClassOf 'pancreas disease' 'Pancreatic Gastrinoma' SubClassOf 'pancreatic neoplasm' http://www.ebi.ac.uk/efo/EFO_1000441 Pancreatic Glucagonoma 'Pancreatic Glucagonoma' SubClassOf 'pancreas disease' 'Pancreatic Glucagonoma' SubClassOf 'pancreatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0021765 radiculitis 'radiculitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002211 http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma 'Parathyroid Gland Carcinoma' SubClassOf 'bearer_of' some 'rare' 'Parathyroid Gland Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parathyroid gland') http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia 'acute myeloid leukemia' SubClassOf 'disease has feature' some 'anemia' http://www.ebi.ac.uk/efo/EFO_1000454 Paranasal Sinus Adenoid Cystic Carcinoma 'Paranasal Sinus Adenoid Cystic Carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001825) http://www.ebi.ac.uk/efo/EFO_0000225 acute quadriplegic myopathy 'acute quadriplegic myopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'musculature' http://www.ebi.ac.uk/efo/EFO_1000459 Parotid Gland Adenoid Cystic Carcinoma 'Parotid Gland Adenoid Cystic Carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parotid gland') http://www.ebi.ac.uk/efo/EFO_1000457 Parathyroid Hyperplasia 'Parathyroid Hyperplasia' EquivalentTo 'hyperplasia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parathyroid gland') http://www.ebi.ac.uk/efo/EFO_1000458 Parotid Gland Acinic Cell Carcinoma 'Parotid Gland Acinic Cell Carcinoma' EquivalentTo 'acinar cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parotid gland') http://www.ebi.ac.uk/efo/EFO_0700126 alpha-crystallinopathy 'alpha-crystallinopathy' SubClassOf 'hereditary neurological disease' http://www.ebi.ac.uk/efo/EFO_0000178 gastric carcinoma 'gastric carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_0000191 MALT lymphoma 'MALT lymphoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001961 'MALT lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001961) http://www.ebi.ac.uk/efo/EFO_0000196 metastatic prostate cancer 'metastatic prostate cancer' SubClassOf 'disease has feature' some 'metastatic carcinoma' http://www.ebi.ac.uk/efo/EFO_0000198 myelodysplastic syndrome 'myelodysplastic syndrome' SubClassOf 'disease has feature' some 'myeloid neoplasm' 'myelodysplastic syndrome' SubClassOf 'disease has feature' some 'bone marrow cancer' http://www.ebi.ac.uk/efo/EFO_0000199 oral squamous cell carcinoma 'oral squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mouth') http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma 'head and neck squamous cell carcinoma' SubClassOf 'bearer_of' some 'rare' 'head and neck squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007811) http://purl.obolibrary.org/obo/GO_0000003 reproduction 'reproduction' SubClassOf 'biological_process' 'reproduction' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_1995 Cleft lip - retinopathy 'Cleft lip - retinopathy' SubClassOf 'Retinal dystrophy' 'Cleft lip - retinopathy' SubClassOf 'Genetic vitreous-retinal disease' http://www.ebi.ac.uk/efo/EFO_1000580 Thymic Undifferentiated Carcinoma 'Thymic Undifferentiated Carcinoma' EquivalentTo 'undifferentiated carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://www.ebi.ac.uk/efo/EFO_1000587 Thyroid Gland Diffuse Large B-Cell Lymphoma 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf 'immune system cancer' 'Thyroid Gland Diffuse Large B-Cell Lymphoma' EquivalentTo 'diffuse large B-cell lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') 'Thyroid Gland Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphatic system cancer' http://www.ebi.ac.uk/efo/EFO_1000590 Thyroid Gland Mucoepidermoid Carcinoma 'Thyroid Gland Mucoepidermoid Carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') http://www.ebi.ac.uk/efo/EFO_1000598 Tracheal Adenoid Cystic Carcinoma 'Tracheal Adenoid Cystic Carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'trachea') http://www.ebi.ac.uk/efo/EFO_1000599 Tracheal Carcinoma 'Tracheal Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'trachea') http://www.ebi.ac.uk/efo/EFO_1000596 Tibial Adamantinoma 'Tibial Adamantinoma' SubClassOf 'hereditary disorder of connective tissue' 'Tibial Adamantinoma' EquivalentTo 'adamantinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'tibia') 'Tibial Adamantinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'tibia' http://www.ebi.ac.uk/efo/EFO_1000597 Tonsillar Squamous Cell Carcinoma 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'tonsil squamous cell carcinoma' 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'oropharynx squamous cell carcinoma' 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'tonsil carcinoma' 'Tonsillar Squamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'palatine tonsil' 'Tonsillar Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'palatine tonsil') http://www.ebi.ac.uk/efo/EFO_1000594 Thyroid Gland Squamous Cell Carcinoma 'Thyroid Gland Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') http://www.ebi.ac.uk/efo/EFO_1000595 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' EquivalentTo 'undifferentiated carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') http://purl.obolibrary.org/obo/HP_0000519 Developmental cataract 'Developmental cataract' SubClassOf 'Abnormal lens morphology' 'Developmental cataract' SubClassOf http://purl.obolibrary.org/obo/HP_0000518 http://purl.obolibrary.org/obo/HP_0000527 Long eyelashes 'Long eyelashes' SubClassOf 'Abnormality of the face' 'Long eyelashes' SubClassOf 'Abnormality of the integument' 'Long eyelashes' SubClassOf http://purl.obolibrary.org/obo/HP_0000499 http://www.ebi.ac.uk/efo/EFO_1000506 Rectal Villous Adenoma 'Rectal Villous Adenoma' EquivalentTo 'villous adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://www.ebi.ac.uk/efo/EFO_1000504 Rectal Tubular Adenoma 'Rectal Tubular Adenoma' EquivalentTo 'tubular adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://www.ebi.ac.uk/efo/EFO_1000501 Pyloric Gland Adenoma 'Pyloric Gland Adenoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0008861 'Pyloric Gland Adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0008861) http://www.ebi.ac.uk/efo/EFO_1000509 Retinal Neoplasm 'Retinal Neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'retina') http://www.ebi.ac.uk/efo/EFO_1000510 Retroperitoneal Inflammatory Myofibroblastic Tumor 'Retroperitoneal Inflammatory Myofibroblastic Tumor' EquivalentTo 'inflammatory myofibroblastic tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'retroperitoneal space') http://www.ebi.ac.uk/efo/EFO_1000519 Salivary Gland Small Cell Carcinoma 'Salivary Gland Small Cell Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://www.ebi.ac.uk/efo/EFO_1000516 Salivary Gland Carcinoma ex Pleomorphic Adenoma 'Salivary Gland Carcinoma ex Pleomorphic Adenoma' EquivalentTo 'carcinoma ex pleomorphic adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://www.ebi.ac.uk/efo/EFO_1000517 Salivary Gland Large Cell Carcinoma 'Salivary Gland Large Cell Carcinoma' EquivalentTo 'large cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://www.ebi.ac.uk/efo/EFO_1000514 Salivary Gland Adenosquamous Carcinoma 'Salivary Gland Adenosquamous Carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://www.ebi.ac.uk/efo/EFO_1000515 Salivary Gland Basal Cell Adenocarcinoma 'Salivary Gland Basal Cell Adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'basal cell' 'Salivary Gland Basal Cell Adenocarcinoma' EquivalentTo 'skin basal cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://www.ebi.ac.uk/efo/EFO_1000512 Rhabdoid Tumor of the Kidney 'Rhabdoid Tumor of the Kidney' EquivalentTo 'malignant rhabdoid tumour' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://www.ebi.ac.uk/efo/EFO_1000529 Skin Basosquamous Cell Carcinoma 'Skin Basosquamous Cell Carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'basal cell' http://purl.obolibrary.org/obo/MONDO_0021605 benign eyelid neoplasm 'benign eyelid neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyelid') http://www.ebi.ac.uk/efo/EFO_1000532 small intestinal adenocarcinoma 'small intestinal adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://www.ebi.ac.uk/efo/EFO_1000533 Small Intestinal Burkitt Lymphoma 'Small Intestinal Burkitt Lymphoma' SubClassOf 'immune system cancer' 'Small Intestinal Burkitt Lymphoma' EquivalentTo 'Burkitts lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') 'Small Intestinal Burkitt Lymphoma' SubClassOf 'lymphatic system cancer' http://www.ebi.ac.uk/efo/EFO_1000531 Skin Sarcoma 'Skin Sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://www.ebi.ac.uk/efo/EFO_1000538 Small Intestinal Tubular Adenoma 'Small Intestinal Tubular Adenoma' EquivalentTo 'tubular adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://www.ebi.ac.uk/efo/EFO_1000539 Small Intestinal Tubulovillous Adenoma 'Small Intestinal Tubulovillous Adenoma' EquivalentTo 'tubulovillous adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://www.ebi.ac.uk/efo/EFO_1000536 Small Intestinal Intraepithelial Neoplasia 'Small Intestinal Intraepithelial Neoplasia' EquivalentTo 'intraepithelial neoplasia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://www.ebi.ac.uk/efo/EFO_1000537 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' EquivalentTo 'MALT lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://www.ebi.ac.uk/efo/EFO_1000534 Small Intestinal Diffuse Large B-Cell Lymphoma 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'immune system cancer' 'Small Intestinal Diffuse Large B-Cell Lymphoma' SubClassOf 'lymphatic system cancer' 'Small Intestinal Diffuse Large B-Cell Lymphoma' EquivalentTo 'diffuse large B-cell lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://www.ebi.ac.uk/efo/EFO_1000535 Small Intestinal Enteropathy-Associated T-Cell Lymphoma 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' EquivalentTo 'enteropathy-associated T-cell lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') 'Small Intestinal Enteropathy-Associated T-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'T cell' http://www.ebi.ac.uk/efo/EFO_1000543 Spinal Chordoma 'Spinal Chordoma' SubClassOf 'hereditary neurological disease' 'Spinal Chordoma' SubClassOf 'hereditary disorder of connective tissue' 'Spinal Chordoma' SubClassOf 'spinal cord disease' 'Spinal Chordoma' SubClassOf 'spinal cord neoplasm' http://www.ebi.ac.uk/efo/EFO_1000544 Spinal Cord Astrocytoma 'Spinal Cord Astrocytoma' EquivalentTo 'astrocytoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spinal cord') http://www.ebi.ac.uk/efo/EFO_1000549 Splenic Mantle Cell Lymphoma 'Splenic Mantle Cell Lymphoma' SubClassOf 'splenic disease' 'Splenic Mantle Cell Lymphoma' SubClassOf 'spleen neoplasm' http://www.ebi.ac.uk/efo/EFO_1000547 Splenic Diffuse Large B-Cell Lymphoma 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf 'splenic disease' 'Splenic Diffuse Large B-Cell Lymphoma' SubClassOf 'spleen neoplasm' http://www.ebi.ac.uk/efo/EFO_1000548 Splenic Hodgkin Lymphoma 'Splenic Hodgkin Lymphoma' SubClassOf 'splenic disease' 'Splenic Hodgkin Lymphoma' SubClassOf 'spleen neoplasm' http://purl.obolibrary.org/obo/MONDO_0021629 uterine ligament neoplasm 'uterine ligament neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036262) 'uterine ligament neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036262 http://www.ebi.ac.uk/efo/EFO_1000552 Subcutaneous Panniculitis-Like T-Cell Lymphoma 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf 'hereditary skin disorder' 'Subcutaneous Panniculitis-Like T-Cell Lymphoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'T cell' http://www.ebi.ac.uk/efo/EFO_1000551 Stromal Predominant Kidney Wilms Tumor 'Stromal Predominant Kidney Wilms Tumor' SubClassOf 'hereditary Wilms tumor' http://www.ebi.ac.uk/efo/EFO_1000557 Synovial Chondromatosis 'Synovial Chondromatosis' SubClassOf 'musculoskeletal system cancer' http://purl.obolibrary.org/obo/MONDO_0021640 grade III glioma 'grade III glioma' SubClassOf 'bearer_of' some 'tumor grade 3, general grading system' 'grade III glioma' EquivalentTo 'glioma' and ('bearer_of' some 'tumor grade 3, general grading system') http://www.ebi.ac.uk/efo/EFO_1000565 Testicular Embryonal Carcinoma 'Testicular Embryonal Carcinoma' EquivalentTo 'embryonal carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') http://www.ebi.ac.uk/efo/EFO_1000566 Testicular Germ Cell Tumor 'Testicular Germ Cell Tumor' EquivalentTo 'germ cell tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') http://www.ebi.ac.uk/efo/EFO_1000564 Testicular Choriocarcinoma 'Testicular Choriocarcinoma' EquivalentTo 'choriocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') http://www.ebi.ac.uk/efo/EFO_1000561 Tendon Sheath Fibroma 'Tendon Sheath Fibroma' SubClassOf 'bone neoplasm' 'Tendon Sheath Fibroma' EquivalentTo 'fibroma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000304) http://www.ebi.ac.uk/efo/EFO_1000562 Tenosynovial Giant Cell Tumor 'Tenosynovial Giant Cell Tumor' SubClassOf 'connective tissue neoplasm' 'Tenosynovial Giant Cell Tumor' SubClassOf 'bone neoplasm' 'Tenosynovial Giant Cell Tumor' EquivalentTo 'giant cell tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000304) http://www.ebi.ac.uk/efo/EFO_1000560 T-Cell Prolymphocytic Leukemia 'T-Cell Prolymphocytic Leukemia' SubClassOf 'acute T cell leukemia' http://purl.obolibrary.org/obo/MONDO_0021631 brain astrocytoma 'brain astrocytoma' EquivalentTo 'astrocytoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://www.ebi.ac.uk/efo/EFO_1000576 Thymic Carcinoma 'Thymic Carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://www.ebi.ac.uk/efo/EFO_1000577 Thymic Sarcomatoid Carcinoma 'Thymic Sarcomatoid Carcinoma' EquivalentTo 'Sarcomatoid Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://www.ebi.ac.uk/efo/EFO_1000574 Testicular Yolk Sac Tumor 'Testicular Yolk Sac Tumor' EquivalentTo 'endodermal sinus tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') http://www.ebi.ac.uk/efo/EFO_1000575 Therapy-Related Myeloid Neoplasm 'Therapy-Related Myeloid Neoplasm' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_1000578 Thymic Small Cell Carcinoma 'Thymic Small Cell Carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://www.ebi.ac.uk/efo/EFO_1000579 Thymic Squamous Cell Carcinoma 'Thymic Squamous Cell Carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://purl.obolibrary.org/obo/MONDO_0021633 cerebral astrocytoma 'cerebral astrocytoma' EquivalentTo 'astrocytoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebral hemisphere') http://purl.obolibrary.org/obo/MONDO_0021634 epithelial skin neoplasm 'epithelial skin neoplasm' EquivalentTo 'epithelial neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0021637 low grade glioma 'low grade glioma' EquivalentTo 'glioma' and ('bearer_of' some 'tumor grade 1 or 2, general grading system') 'low grade glioma' SubClassOf 'bearer_of' some 'tumor grade 1 or 2, general grading system' http://purl.obolibrary.org/obo/MONDO_0021638 low grade astrocytic tumor 'low grade astrocytic tumor' EquivalentTo 'astrocytic tumor' and ('bearer_of' some 'tumor grade 1 or 2, general grading system') http://purl.obolibrary.org/obo/MONDO_0021639 grade II glioma 'grade II glioma' EquivalentTo 'glioma' and ('bearer_of' some 'tumor grade 2, general grading system') 'grade II glioma' SubClassOf 'bearer_of' some 'tumor grade 2, general grading system' http://purl.obolibrary.org/obo/MONDO_0021660 deep seated dermatophytosis 'deep seated dermatophytosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021661 coronary atherosclerosis 'coronary atherosclerosis' EquivalentTo 'arteriosclerosis disorder' and (http://purl.obolibrary.org/obo/RO_0004026 some 'coronary artery') http://purl.obolibrary.org/obo/MONDO_0021662 bile duct neoplasm 'bile duct neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bile duct') http://purl.obolibrary.org/obo/MONDO_0021666 ear infection 'ear infection' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ear') http://purl.obolibrary.org/obo/MONDO_0021669 post-infectious disorder 'post-infectious disorder' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0021657 ovarian sex cord-stromal tumor 'ovarian sex cord-stromal tumor' EquivalentTo 'sex cord-stromal tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0021682 viral sexually transmitted disease 'viral sexually transmitted disease' EquivalentTo 'sexually transmitted disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Virus') http://purl.obolibrary.org/obo/MONDO_0031037 famililal cerebral cavernous malformations 'famililal cerebral cavernous malformations' EquivalentTo 'cerebral cavernous malformation' and ('bearer_of' some 'inherited') http://www.orpha.net/ORDO/Orphanet_1871 Progressive cone dystrophy 'Progressive cone dystrophy' SubClassOf 'Retinal dystrophy' 'Progressive cone dystrophy' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_1884 Ectopia lentis - chorioretinal dystrophy - myopia 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Retinal dystrophy' 'Ectopia lentis - chorioretinal dystrophy - myopia' SubClassOf 'Genetic vitreous-retinal disease' http://www.ebi.ac.uk/efo/EFO_0005269 congenital heart malformation 'congenital heart malformation' SubClassOf 'cardiogenetic disease' 'congenital heart malformation' SubClassOf 'bearer_of' some 'rare' 'congenital heart malformation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016987 neuroacanthocytosis 'neuroacanthocytosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016986 congenital smooth muscle hamartoma 'congenital smooth muscle hamartoma' SubClassOf 'bearer_of' some 'congenital' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0002358 laryngeal carcinoma 'laryngeal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'larynx') http://purl.obolibrary.org/obo/MONDO_0002359 periosteal chondroma 'periosteal chondroma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007844 http://purl.obolibrary.org/obo/MONDO_0002353 glottis neoplasm 'glottis neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002486) 'glottis neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002486 http://purl.obolibrary.org/obo/MONDO_0002354 benign laryngeal neoplasm 'benign laryngeal neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'larynx') http://purl.obolibrary.org/obo/MONDO_0002355 glottis carcinoma 'glottis carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002486) http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome 'familial nephrotic syndrome' EquivalentTo 'nephrotic syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0002351 glottis cancer 'glottis cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002486) http://purl.obolibrary.org/obo/MONDO_0016996 NK-cell enteropathy 'NK-cell enteropathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016990 acquired prothrombin deficiency 'acquired prothrombin deficiency' SubClassOf 'bearer_of' some 'acquired' 'acquired prothrombin deficiency' EquivalentTo 'prothrombin deficiency' and ('bearer_of' some 'acquired') http://www.ebi.ac.uk/efo/EFO_0005288 non-small cell lung adenocarcinoma 'non-small cell lung adenocarcinoma' SubClassOf 'adenocarcinoma' 'non-small cell lung adenocarcinoma' SubClassOf 'non-small cell lung carcinoma' 'non-small cell lung adenocarcinoma' SubClassOf 'lung adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002366 autonomic nervous system neoplasm 'autonomic nervous system neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002410) http://purl.obolibrary.org/obo/MONDO_0002367 kidney cancer 'kidney cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://purl.obolibrary.org/obo/MONDO_0002360 chondroma 'chondroma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001994 http://purl.obolibrary.org/obo/MONDO_0002375 sebaceous adenoma 'sebaceous adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001821) http://purl.obolibrary.org/obo/MONDO_0002376 spleen angiosarcoma 'spleen angiosarcoma' EquivalentTo 'angiosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spleen') http://purl.obolibrary.org/obo/MONDO_0002397 liver sarcoma 'liver sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://purl.obolibrary.org/obo/MONDO_0002404 liver hemangioma 'liver hemangioma' EquivalentTo 'hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://purl.obolibrary.org/obo/HP_0000857 Neonatal insulin-dependent diabetes mellitus 'Neonatal insulin-dependent diabetes mellitus' SubClassOf 'Abnormality of the endocrine system' 'Neonatal insulin-dependent diabetes mellitus' SubClassOf 'Glucose intolerance' 'Neonatal insulin-dependent diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/HP_0000855 'Neonatal insulin-dependent diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/HP_0000819 http://purl.obolibrary.org/obo/MONDO_0002405 hepatic vascular disorder 'hepatic vascular disorder' EquivalentTo 'vascular disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0006877) 'hepatic vascular disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0006877 http://purl.obolibrary.org/obo/MONDO_0002406 dermatitis 'dermatitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'zone of skin') 'dermatitis' SubClassOf 'disease has inflammation site' some 'zone of skin' http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I 'glycogen storage disease I' SubClassOf 'bearer_of' some 'rare' 'glycogen storage disease I' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0004346 http://purl.obolibrary.org/obo/MONDO_0002415 bone carcinoma 'bone carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'bone element' 'bone carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bone element') http://purl.obolibrary.org/obo/MONDO_0002416 ethmoid sinus squamous cell carcinoma 'ethmoid sinus squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002453) http://purl.obolibrary.org/obo/MONDO_0002423 rectosigmoid junction neoplasm 'rectosigmoid junction neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036214 'rectosigmoid junction neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036214) http://purl.obolibrary.org/obo/MONDO_0002426 lung sarcoma 'lung sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_0005222 avian influenza 'avian influenza' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Influenza A virus') 'avian influenza' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'Influenza A virus' http://www.ebi.ac.uk/efo/EFO_0005220 pulmonary neuroendocrine tumor 'pulmonary neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0002422 adamantinoma 'adamantinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002495 http://www.ebi.ac.uk/efo/EFO_0005224 Q fever 'Q fever' SubClassOf 'disease has feature' some 'dysentery' 'Q fever' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005225 human african trypanosomiasis 'human african trypanosomiasis' SubClassOf 'bearer_of' some 'rare' 'human african trypanosomiasis' SubClassOf 'disease has feature' some 'anemia' http://purl.obolibrary.org/obo/MONDO_0002427 cerebellar disorder 'cerebellar disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'cerebellum' 'cerebellar disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebellum') http://purl.obolibrary.org/obo/MONDO_0002436 nasal disorder 'nasal disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nose') 'nasal disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'nose' http://purl.obolibrary.org/obo/MONDO_0002438 acquired polycythemia 'acquired polycythemia' SubClassOf 'bearer_of' some 'acquired' 'acquired polycythemia' EquivalentTo 'polycythemia' and ('bearer_of' some 'acquired') 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_0005232 endometrium adenocarcinoma 'endometrium adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') http://purl.obolibrary.org/obo/HP_0000824 Decreased response to growth hormone stimulation test 'Decreased response to growth hormone stimulation test' SubClassOf 'Abnormality of the endocrine system' 'Decreased response to growth hormone stimulation test' SubClassOf 'Abnormal brain morphology' 'Decreased response to growth hormone stimulation test' SubClassOf http://purl.obolibrary.org/obo/HP_0000830 http://www.ebi.ac.uk/efo/EFO_0005235 primitive neuroectodermal tumor 'primitive neuroectodermal tumor' SubClassOf 'has_disease_location' some ('brain' or ('part of' some 'brain')) 'primitive neuroectodermal tumor' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0002450 prostatic adenoma 'prostatic adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://purl.obolibrary.org/obo/MONDO_0002225 ovarian sarcoma 'ovarian sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0002229 ovarian epithelial tumor 'ovarian epithelial tumor' EquivalentTo 'epithelial neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0002236 ocular cancer 'ocular cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyeball of camera-type eye') http://purl.obolibrary.org/obo/MONDO_0002232 nasal cavity disorder 'nasal cavity disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'nasal cavity' 'nasal cavity disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nasal cavity') http://purl.obolibrary.org/obo/MONDO_0002233 enamel caries 'enamel caries' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001752 'enamel caries' EquivalentTo 'dental caries' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001752) http://purl.obolibrary.org/obo/MONDO_0002234 vaginitis 'vaginitis' SubClassOf 'disease has inflammation site' some 'vagina' 'vaginitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'vagina') http://www.ebi.ac.uk/efo/EFO_0005137 conduction system disorder 'conduction system disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'conducting system of heart' 'conduction system disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'conducting system of heart') http://purl.obolibrary.org/obo/MONDO_0002247 factor X deficiency 'factor X deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0004252 http://purl.obolibrary.org/obo/MONDO_0002245 blood platelet disease 'blood platelet disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some 'platelet') 'blood platelet disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'platelet' 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_0002258 pharyngitis 'pharyngitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000341 'pharyngitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000341) http://purl.obolibrary.org/obo/MONDO_0002259 gonadal disorder 'gonadal disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gonad') 'gonadal disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'gonad' http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease 'syndromic disease' SubClassOf 'bearer_of' some 'has a syndromic presentation' 'syndromic disease' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0002256 cervix disorder 'cervix disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix' 'cervix disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://purl.obolibrary.org/obo/MONDO_0002260 hidradenitis 'hidradenitis' SubClassOf 'disease has inflammation site' some 'apocrine sweat gland' 'hidradenitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'apocrine sweat gland') http://purl.obolibrary.org/obo/HP_0000763 Sensory neuropathy 'Sensory neuropathy' SubClassOf 'Abnormal nervous system physiology' 'Sensory neuropathy' SubClassOf http://purl.obolibrary.org/obo/HP_0009830 http://purl.obolibrary.org/obo/MONDO_0002278 benign colon neoplasm 'benign colon neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0002289 iris disorder 'iris disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'iris' 'iris disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'iris') http://purl.obolibrary.org/obo/MONDO_0002286 renal artery disease 'renal artery disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal artery') and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') 'renal artery disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'renal artery' http://purl.obolibrary.org/obo/MONDO_0002282 West Nile fever 'West Nile fever' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'West Nile virus') 'West Nile fever' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'West Nile virus' http://purl.obolibrary.org/obo/MONDO_0002297 epidermal appendage tumor 'epidermal appendage tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000021) http://purl.obolibrary.org/obo/HP_0000753 Autism with high cognitive abilities 'Autism with high cognitive abilities' SubClassOf 'Atypical behavior' 'Autism with high cognitive abilities' SubClassOf http://purl.obolibrary.org/obo/HP_0000729 http://purl.obolibrary.org/obo/MONDO_0002304 protein S deficiency 'protein S deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0030195 http://purl.obolibrary.org/obo/MONDO_0002300 dermis tumor 'dermis tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'dermis') http://purl.obolibrary.org/obo/MONDO_0002311 retinal vascular disorder 'retinal vascular disorder' EquivalentTo 'vascular disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004864) 'retinal vascular disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004864 http://purl.obolibrary.org/obo/MONDO_0002312 opportunistic mycosis 'opportunistic mycosis' EquivalentTo 'fungal infectious disease' and ('bearer_of' some 'opportunistic infectious') 'opportunistic mycosis' SubClassOf 'bearer_of' some 'opportunistic infectious' http://purl.obolibrary.org/obo/MONDO_0002319 phosphorus metabolism disease 'phosphorus metabolism disease' EquivalentTo 'mineral metabolism disease' and (http://purl.obolibrary.org/obo/RO_0004024 some 'phosphorus metabolic process') 'phosphorus metabolism disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'phosphorus metabolic process' http://purl.obolibrary.org/obo/MONDO_0002320 congenital nervous system disorder 'congenital nervous system disorder' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0002321 sensory peripheral neuropathy 'sensory peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001027) 'sensory peripheral neuropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001027 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_0002328 intracranial hemangioma 'intracranial hemangioma' EquivalentTo 'hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://purl.obolibrary.org/obo/MONDO_0002337 intra-abdominal hemangioma 'intra-abdominal hemangioma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'abdominal cavity' 'intra-abdominal hemangioma' EquivalentTo 'hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'abdominal cavity') http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm 'hematopoietic and lymphoid system neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hematopoietic system') http://purl.obolibrary.org/obo/MONDO_0016974 thymoma type B 'thymoma type B' EquivalentTo 'Thymoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'dendritic cell') 'thymoma type B' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'dendritic cell' http://purl.obolibrary.org/obo/MONDO_0002100 cardiovascular cancer 'cardiovascular cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cardiovascular system') http://purl.obolibrary.org/obo/MONDO_0002102 cheilitis 'cheilitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001833) 'cheilitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001833 http://purl.obolibrary.org/obo/MONDO_0016749 tumor of cranial and spinal nerves 'tumor of cranial and spinal nerves' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016747 primary melanoma of the central nervous system 'primary melanoma of the central nervous system' EquivalentTo 'melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0016748 hemangioblastoma 'hemangioblastoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016742 mixed germ cell tumor of central nervous system 'mixed germ cell tumor of central nervous system' EquivalentTo 'mixed germ cell tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0002108 thyroid cancer 'thyroid cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') http://purl.obolibrary.org/obo/MONDO_0002116 malignant exocrine pancreas neoplasm 'malignant exocrine pancreas neoplasm' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000017) http://purl.obolibrary.org/obo/MONDO_0002113 peritoneal carcinoma 'peritoneal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum') http://purl.obolibrary.org/obo/MONDO_0002122 neuritis 'neuritis' SubClassOf 'disease has inflammation site' some 'nerve' 'neuritis' EquivalentTo 'peripheral neuropathy' and ('disease has inflammation site' some 'nerve') http://purl.obolibrary.org/obo/MONDO_0002134 physiological sexual disorder http://purl.obolibrary.org/obo/MONDO_0000947 DisjointWith 'physiological sexual disorder' http://purl.obolibrary.org/obo/MONDO_0002135 optic nerve disorder 'optic nerve disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000941) 'optic nerve disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000941 http://purl.obolibrary.org/obo/MONDO_0002132 skull cancer 'skull cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003129) http://purl.obolibrary.org/obo/MONDO_0016778 iatrogenic botulism 'iatrogenic botulism' EquivalentTo 'botulism' and ('bearer_of' some 'iatrogenic') http://purl.obolibrary.org/obo/MONDO_0002149 reproductive system cancer 'reproductive system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'reproductive system') http://purl.obolibrary.org/obo/MONDO_0002158 fallopian tube cancer 'fallopian tube cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0002150 hypothalamic disorder 'hypothalamic disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hypothalamus') 'hypothalamic disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'hypothalamus' http://purl.obolibrary.org/obo/MONDO_0002167 rectum malignant melanoma 'rectum malignant melanoma' EquivalentTo 'melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://purl.obolibrary.org/obo/MONDO_0002165 rectal neoplasm 'rectal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://purl.obolibrary.org/obo/MONDO_0002178 placenta cancer 'placenta cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'placenta') http://purl.obolibrary.org/obo/MONDO_0002172 otosalpingitis 'otosalpingitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002393) 'otosalpingitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002393 http://purl.obolibrary.org/obo/MONDO_0002195 vulvar squamous neoplasm 'vulvar squamous neoplasm' EquivalentTo 'squamous cell neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://www.ebi.ac.uk/efo/EFO_0005400 chemotherapy-induced alopecia 'chemotherapy-induced alopecia' SubClassOf 'hereditary skin disorder' 'chemotherapy-induced alopecia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'head' 'chemotherapy-induced alopecia' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0005406 colorectal adenoma 'colorectal adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colorectum') http://www.ebi.ac.uk/efo/EFO_0005411 schizoaffective disorder 'schizoaffective disorder' SubClassOf 'psychosis' 'schizoaffective disorder' SubClassOf 'psychosis' http://purl.obolibrary.org/obo/MONDO_0016800 mitochondrial membrane transport disorder 'mitochondrial membrane transport disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_1990542 'mitochondrial membrane transport disorder' EquivalentTo 'inborn mitochondrial metabolism disorder' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_1990542) 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 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0016818 Mikati-Najjar-Sahli syndrome 'Mikati-Najjar-Sahli syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome 'myopathy-growth delay-intellectual disability-hypospadias syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016824 infantile myofibromatosis 'infantile myofibromatosis' SubClassOf 'bearer_of' some 'rare' 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_0016821 shoulder and girdle defects-familial intellectual disability syndrome 'shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0002203 constipation disorder 'constipation disorder' SubClassOf 'disease has major feature' some 'Constipation' 'constipation disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Constipation') http://purl.obolibrary.org/obo/MONDO_0002206 sweat gland cancer 'sweat gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sweat gland') http://purl.obolibrary.org/obo/MONDO_0002217 central nervous system sarcoma 'central nervous system sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0002211 B cell deficiency 'B cell deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'B cell' http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia 'inherited deficiency anemia' EquivalentTo 'deficiency anemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016625 acquired deficiency anemia 'acquired deficiency anemia' EquivalentTo 'deficiency anemia' and ('bearer_of' some 'acquired') 'acquired deficiency anemia' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0002025 psychiatric disorder 'psychiatric disorder' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/HP_0000997 Axillary freckling 'Axillary freckling' SubClassOf 'Abnormal skin morphology' 'Axillary freckling' SubClassOf http://purl.obolibrary.org/obo/HP_0001480 http://purl.obolibrary.org/obo/MONDO_0002038 head and neck carcinoma 'head and neck carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007811) http://purl.obolibrary.org/obo/MONDO_0002035 colon lymphoma 'colon lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0002036 penile disorder 'penile disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'penis' 'penile disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'penis') http://purl.obolibrary.org/obo/MONDO_0002037 pleural disorder 'pleural disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pleura' 'pleural disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pleura') http://purl.obolibrary.org/obo/MONDO_0002031 cecal disorder 'cecal disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'caecum') 'cecal disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'caecum' http://purl.obolibrary.org/obo/MONDO_0002033 cecum cancer 'cecum cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'caecum') http://purl.obolibrary.org/obo/MONDO_0016674 46,XY partial gonadal dysgenesis '46,XY partial gonadal dysgenesis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016685 low-grade astrocytoma 'low-grade astrocytoma' EquivalentTo 'astrocytoma' and ('bearer_of' some 'tumor grade 1 or 2, general grading system') http://purl.obolibrary.org/obo/MONDO_0002058 breast adenoma 'breast adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://purl.obolibrary.org/obo/MONDO_0002052 lymphadenitis 'lymphadenitis' SubClassOf 'disease has inflammation site' some 'lymph node' 'lymphadenitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'lymph node') http://purl.obolibrary.org/obo/MONDO_0016697 low grade ependymoma 'low grade ependymoma' EquivalentTo 'ependymoma' and ('bearer_of' some 'tumor grade 1, general grading system') 'low grade ependymoma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/MONDO_0002060 intraductal papilloma 'intraductal papilloma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000058 'intraductal papilloma' EquivalentTo 'papilloma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000058) http://purl.obolibrary.org/obo/MONDO_0002071 supratentorial cancer 'supratentorial cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'telencephalon' http://purl.obolibrary.org/obo/MONDO_0002089 retinal vascular occlusion 'retinal vascular occlusion' EquivalentTo 'vascular occlusion disorder' and (http://purl.obolibrary.org/obo/RO_0004026 some 'retina') http://purl.obolibrary.org/obo/MONDO_0002087 peritoneum cancer 'peritoneum cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum') http://purl.obolibrary.org/obo/MONDO_0002090 eccrine sweat gland neoplasm 'eccrine sweat gland neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'eccrine sweat gland' 'eccrine sweat gland neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eccrine sweat gland') http://purl.obolibrary.org/obo/MONDO_0002095 vascular cancer 'vascular cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vasculature') http://purl.obolibrary.org/obo/MONDO_0100545 hereditary neurological disease 'hereditary neurological disease' EquivalentTo 'nervous system disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0100546 hereditary neuromuscular disease 'hereditary neuromuscular disease' EquivalentTo 'neuromuscular disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0100547 cardiogenetic disease 'cardiogenetic disease' EquivalentTo 'heart disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/GO_0014069 postsynaptic density 'postsynaptic density' SubClassOf 'part of' some http://purl.obolibrary.org/obo/GO_0098794 http://purl.obolibrary.org/obo/MONDO_0100512 mitochondrial DNA depletion syndrome, hepatocerebral form 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100514 familial ovarian carcinoma 'familial ovarian carcinoma' EquivalentTo 'ovarian carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/HP_0000957 Cafe-au-lait spot 'Cafe-au-lait spot' SubClassOf 'Abnormal skin morphology' 'Cafe-au-lait spot' SubClassOf http://purl.obolibrary.org/obo/HP_0000953 http://purl.obolibrary.org/obo/HP_0000952 Jaundice 'Jaundice' SubClassOf 'Abnormality of the liver' 'Jaundice' SubClassOf http://purl.obolibrary.org/obo/HP_0001396 http://www.ebi.ac.uk/efo/EFO_0005305 atrioventricular node disease 'atrioventricular node disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'atrioventricular node') 'atrioventricular node disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'atrioventricular node' http://purl.obolibrary.org/obo/MONDO_0100500 Mendelian neurodevelopmental disorder 'Mendelian neurodevelopmental disorder' EquivalentTo 'Neurodevelopmental disorder' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016717 choroid plexus neoplasm 'choroid plexus neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brain ventricle' 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' EquivalentTo 'Ewing sarcoma/peripheral primitive neuroectodermal tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') 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_0016729 mixed neuronal-glial tumor 'mixed neuronal-glial tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016735 papillary glioneuronal tumor 'papillary glioneuronal tumor' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/MONDO_0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016511 infectious embryofetopathy 'infectious embryofetopathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016529 duplication of urethra 'duplication of urethra' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism 'familial hyperaldosteronism' SubClassOf 'bearer_of' some 'rare' 'familial hyperaldosteronism' EquivalentTo 'hyperaldosteronism' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'amino acid metabolism disease' 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'inborn errors of metabolism' 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0016541 acquired secondary polycythemia 'acquired secondary polycythemia' EquivalentTo 'secondary polycythemia' and ('bearer_of' some 'acquired') 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016558 familial congenital mirror movements 'familial congenital mirror movements' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0010689 Mirror image polydactyly 'Mirror image polydactyly' SubClassOf 'Abnormal digit morphology' 'Mirror image polydactyly' SubClassOf http://purl.obolibrary.org/obo/HP_0010442 http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form 'congenital primary megaureter, obstructed form' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form 'congenital primary megaureter, refluxing form' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0016553 isolated congenital hypogonadotropic hypogonadism 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'bearer_of' some 'congenital' 'isolated congenital hypogonadotropic hypogonadism' EquivalentTo 'congenital hypogonadotropic hypogonadism' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia 'primary ciliary dyskinesia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016593 acquired ataxia 'acquired ataxia' EquivalentTo 'atactic disorder' and ('bearer_of' some 'acquired') 'acquired ataxia' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0100372 disorder of peroxisomal transporter 'disorder of peroxisomal transporter' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0043574 http://purl.obolibrary.org/obo/MONDO_0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 'megacystis-microcolon-intestinal hypoperistalsis syndrome 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100366 occupational disorder 'occupational disorder' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0100449 FLVCR1-related retinopathy with or without ataxia 'FLVCR1-related retinopathy with or without ataxia' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_0005623 distal colitis 'distal colitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0008971) 'distal colitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0008971 http://www.ebi.ac.uk/efo/EFO_0005627 perianal Crohn's disease 'perianal Crohn's disease' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000159 'perianal Crohn's disease' EquivalentTo 'Crohn's disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000159) 'perianal Crohn's disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'anal region' http://www.ebi.ac.uk/efo/EFO_0005624 ileocolitis 'ileocolitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'ileum' 'ileocolitis' EquivalentTo 'Crohn's disease' and ('disease has inflammation site' some 'colon') and ('disease has inflammation site' some 'ileum') http://www.ebi.ac.uk/efo/EFO_0005628 proctitis 'proctitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001245) 'proctitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001245 http://www.ebi.ac.uk/efo/EFO_0005629 small bowel Crohn's disease 'small bowel Crohn's disease' EquivalentTo 'Crohn's disease' and ('disease has inflammation site' some 'small intestine') http://www.ebi.ac.uk/efo/EFO_0005649 spondylolysis 'spondylolysis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036266 http://www.ebi.ac.uk/efo/EFO_0005631 rectal adenocarcinoma 'rectal adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://www.ebi.ac.uk/efo/EFO_0005669 intracerebral hemorrhage 'intracerebral hemorrhage' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brain blood vessel' http://www.ebi.ac.uk/efo/EFO_0005687 fibromyalgia 'fibromyalgia' SubClassOf 'chronic pain syndrome' 'fibromyalgia' SubClassOf 'chronic pain syndrome' http://www.ebi.ac.uk/efo/EFO_0005672 acute coronary syndrome 'acute coronary syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'heart' http://www.ebi.ac.uk/efo/EFO_0005678 hippocampal sclerosis of aging 'hippocampal sclerosis of aging' SubClassOf 'disease has feature' some 'structural epilepsy' 'hippocampal sclerosis of aging' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'Ammon's horn' http://www.ebi.ac.uk/efo/EFO_0005676 Autoimmune Hepatitis 'Autoimmune Hepatitis' SubClassOf 'bearer_of' some 'rare' 'Autoimmune Hepatitis' SubClassOf 'disease has inflammation site' some 'liver' http://www.orpha.net/ORDO/Orphanet_352479 Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'inborn errors of metabolism' 'Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0016611 lipoblastoma 'lipoblastoma' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_220489 Rare hereditary hemochromatosis 'Rare hereditary hemochromatosis' SubClassOf 'inborn errors of metabolism' 'Rare hereditary hemochromatosis' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/UBERON_2000674 interopercle 'interopercle' SubClassOf 'part of' some 'skeletal system' 'interopercle' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_2000677 segmental intercostal artery 'segmental intercostal artery' SubClassOf 'artery' 'segmental intercostal artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma 'hereditary breast carcinoma' EquivalentTo 'breast carcinoma' and ('bearer_of' some 'inherited') 'hereditary breast carcinoma' SubClassOf 'disease has feature' some 'breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome 'congenital ichthyosis-microcephalus-tetraplegia syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/UBERON_2000657 entopterygoid 'entopterygoid' SubClassOf 'bone element' 'entopterygoid' SubClassOf 'part of' some 'head' 'entopterygoid' SubClassOf 'part of' some 'anatomical system' 'entopterygoid' SubClassOf 'part of' some 'skeletal system' 'entopterygoid' SubClassOf 'part of' some 'digestive system' 'entopterygoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011597 http://purl.obolibrary.org/obo/MONDO_0016414 hypotrichosis-intellectual disability, Lopes type 'hypotrichosis-intellectual disability, Lopes type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016446 acquired cutis laxa 'acquired cutis laxa' EquivalentTo 'cutis laxa' and ('bearer_of' some 'acquired') 'acquired cutis laxa' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0016441 acquired pseudoxanthoma elasticum 'acquired pseudoxanthoma elasticum' SubClassOf 'bearer_of' some 'acquired' 'acquired pseudoxanthoma elasticum' EquivalentTo 'pseudoxanthoma elasticum (inherited or acquired)' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/UBERON_2000692 symplectic 'symplectic' SubClassOf 'part of' some 'skeletal system' 'symplectic' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/MONDO_0016469 Ehlers-Danlos syndrome, vascular-like type 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016462 isolated agammaglobulinemia 'isolated agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('bearer_of' some 'has an isolated presentation') 'isolated agammaglobulinemia' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0016463 syndromic agammaglobulinemia 'syndromic agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor 'familial rhabdoid tumor' EquivalentTo 'hereditary neoplastic syndrome' and ('disease has feature' some 'malignant rhabdoid tumour') 'familial rhabdoid tumor' SubClassOf 'disease has feature' some 'malignant rhabdoid tumour' 'familial rhabdoid tumor' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0016470 Ehlers-Danlos/osteogenesis imperfecta syndrome 'Ehlers-Danlos/osteogenesis imperfecta syndrome' SubClassOf 'disease has feature' some 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0100237 inherited cutis laxa 'inherited cutis laxa' EquivalentTo 'cutis laxa' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'disorder of GPI anchor biosynthesis' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'bearer_of' some 'acquired' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'disorder of GPI anchor biosynthesis' http://purl.obolibrary.org/obo/MONDO_0100249 46,XX testicular disorder of sex development '46,XX testicular disorder of sex development' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100330 disease arising from reactivation of latent virus 'disease arising from reactivation of latent virus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100333 some 'Virus' 'disease arising from reactivation of latent virus' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100333 some 'Virus') http://purl.obolibrary.org/obo/MONDO_0100342 malignant glioma 'malignant glioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100310 hereditary cerebellar ataxia 'hereditary cerebellar ataxia' EquivalentTo 'cerebellar ataxia' and ('bearer_of' some 'inherited') 'hereditary cerebellar ataxia' SubClassOf 'cerebellar degeneration' http://purl.obolibrary.org/obo/MONDO_0100311 sensory ataxia 'sensory ataxia' EquivalentTo 'atactic disorder' and (http://purl.obolibrary.org/obo/RO_0004020 some 'sensory system') 'sensory ataxia' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'sensory system' http://purl.obolibrary.org/obo/MONDO_0100317 deficiency of adenosine deaminase 2 'deficiency of adenosine deaminase 2' SubClassOf 'genetic disorder' 'deficiency of adenosine deaminase 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 'deficiency of adenosine deaminase 2' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0100323 inherited pseudohypoaldosteronism 'inherited pseudohypoaldosteronism' EquivalentTo 'pseudohypoaldosteronism' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0100329 primary viral infectious disease 'primary viral infectious disease' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Virus') 'primary viral infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'Virus' http://purl.obolibrary.org/obo/MONDO_0100308 atactic disorder 'atactic disorder' SubClassOf 'disease has major feature' some 'Ataxia' 'atactic disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Ataxia') http://www.ebi.ac.uk/efo/EFO_0005542 botulism 'botulism' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005540 bile duct carcinoma 'bile duct carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bile duct') http://www.ebi.ac.uk/efo/EFO_0005543 glioma 'glioma' SubClassOf 'central nervous system disease' 'glioma' SubClassOf 'Central Nervous System Neoplasm' http://www.ebi.ac.uk/efo/EFO_0005549 diphtheria 'diphtheria' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0010517 Ectopic thymus tissue 'Ectopic thymus tissue' SubClassOf 'Abnormality of the lymphatic system' 'Ectopic thymus tissue' SubClassOf 'Abnormality of the endocrine system' 'Ectopic thymus tissue' SubClassOf http://purl.obolibrary.org/obo/HP_0000777 http://purl.obolibrary.org/obo/HP_0010515 Aplasia/Hypoplasia of the thymus 'Aplasia/Hypoplasia of the thymus' SubClassOf 'Abnormality of the endocrine system' 'Aplasia/Hypoplasia of the thymus' SubClassOf 'Abnormality of the lymphatic system' 'Aplasia/Hypoplasia of the thymus' SubClassOf http://purl.obolibrary.org/obo/HP_0000777 http://www.ebi.ac.uk/efo/EFO_0005539 adrenal gland disease 'adrenal gland disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002369) 'adrenal gland disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002369 http://www.ebi.ac.uk/efo/EFO_0005567 malignant peritoneal mesothelioma 'malignant peritoneal mesothelioma' SubClassOf 'Peritoneal Mesothelioma' 'malignant peritoneal mesothelioma' SubClassOf 'Peritoneal Mesothelioma' 'malignant peritoneal mesothelioma' EquivalentTo 'Malignant Mesothelioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum') http://www.ebi.ac.uk/efo/EFO_0005553 eccrine sweat gland cancer 'eccrine sweat gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eccrine sweat gland') http://www.ebi.ac.uk/efo/EFO_0005551 dysembryoplastic neuroepithelial tumor 'dysembryoplastic neuroepithelial tumor' SubClassOf 'disease has feature' some 'structural epilepsy' http://www.ebi.ac.uk/efo/EFO_0005557 gum cancer 'gum cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gingiva') http://www.ebi.ac.uk/efo/EFO_0005582 renal pelvis carcinoma 'renal pelvis carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal pelvis') http://www.ebi.ac.uk/efo/EFO_0005580 red color blindness 'red color blindness' SubClassOf 'color vision disorder' 'red color blindness' SubClassOf 'color vision disorder' http://www.ebi.ac.uk/efo/EFO_0005585 shigellosis 'shigellosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005588 small intestine carcinoma 'small intestine carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://www.ebi.ac.uk/efo/EFO_0005570 oral cavity cancer 'oral cavity cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000167) http://www.ebi.ac.uk/efo/EFO_0005578 pituitary cancer 'pituitary cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') http://www.ebi.ac.uk/efo/EFO_0005576 pernicious anemia 'pernicious anemia' SubClassOf 'inborn errors of metabolism' http://www.ebi.ac.uk/efo/EFO_0005577 pharynx cancer 'pharynx cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'chordate pharynx') http://purl.obolibrary.org/obo/UBERON_2000627 posterior ceratohyal 'posterior ceratohyal' SubClassOf 'part of' some 'anatomical system' 'posterior ceratohyal' SubClassOf 'part of' some 'skeletal system' http://www.ebi.ac.uk/efo/EFO_0005592 T-cell leukemia 'T-cell leukemia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'T cell' 'T-cell leukemia' EquivalentTo 'leukemia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'T cell') http://www.ebi.ac.uk/efo/EFO_0005591 sweat gland carcinoma 'sweat gland carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sweat gland') http://www.ebi.ac.uk/efo/EFO_0005596 vitamin metabolic disorder 'vitamin metabolic disorder' SubClassOf 'vitamin deficiency disorder' 'vitamin metabolic disorder' SubClassOf 'vitamin deficiency disorder' http://www.ebi.ac.uk/efo/EFO_0005595 toxic encephalopathy 'toxic encephalopathy' SubClassOf 'injury' 'toxic encephalopathy' SubClassOf 'nervous system injury' http://purl.obolibrary.org/obo/MONDO_0016302 isolated congenitally uncorrected transposition of the great arteries 'isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'bearer_of' some 'congenital' 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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0100191 inherited kidney disorder 'inherited kidney disorder' EquivalentTo 'kidney disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy 'non-familial hypertrophic cardiomyopathy' EquivalentTo 'hypertrophic cardiomyopathy' and ('bearer_of' some 'acquired') 'non-familial hypertrophic cardiomyopathy' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy 'familial dilated cardiomyopathy' EquivalentTo 'dilated cardiomyopathy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus 'congenital hydrocephalus' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016346 hydrocephalus-obesity-hypogonadism syndrome 'hydrocephalus-obesity-hypogonadism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016342 familial isolated arrhythmogenic right ventricular dysplasia 'familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'bearer_of' some 'has an isolated presentation' 'familial isolated arrhythmogenic right ventricular dysplasia' EquivalentTo 'arrhythmogenic right ventricular cardiomyopathy' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0016340 familial restrictive cardiomyopathy 'familial restrictive cardiomyopathy' EquivalentTo 'restrictive cardiomyopathy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'disease has feature' some 'scleral disorder' 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'disease has feature' some 'hereditary nephritis' 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'syndromic disease' 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016365 familial primary hyperparathyroidism 'familial primary hyperparathyroidism' EquivalentTo 'primary hyperparathyroidism' and ('bearer_of' some 'inherited') 'familial primary hyperparathyroidism' SubClassOf 'bearer_of' some 'rare' 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_0016374 cranial neuralgia 'cranial neuralgia' EquivalentTo 'neuralgia' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0034713) http://purl.obolibrary.org/obo/MONDO_0016391 neonatal diabetes mellitus 'neonatal diabetes mellitus' SubClassOf 'bearer_of' some 'rare' 'neonatal diabetes mellitus' SubClassOf 'monogenic diabetes' 'neonatal diabetes mellitus' SubClassOf 'monogenic diabetes' http://purl.obolibrary.org/obo/MONDO_0100133 mitochondrial complex I deficiency 'mitochondrial complex I deficiency' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005747) 'mitochondrial complex I deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005747 http://purl.obolibrary.org/obo/MONDO_0100137 telomere syndrome 'telomere syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/GO_0000781 http://purl.obolibrary.org/obo/MONDO_0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016387 mitochondrial oxidative phosphorylation disorder 'mitochondrial oxidative phosphorylation disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006119 'mitochondrial oxidative phosphorylation disorder' EquivalentTo 'inborn mitochondrial metabolism disorder' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006119) http://www.ebi.ac.uk/efo/EFO_0005922 esophageal squamous cell carcinoma 'esophageal squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://purl.obolibrary.org/obo/MONDO_0100118 hereditary skin disorder 'hereditary skin disorder' EquivalentTo 'skin disease' and ('bearer_of' some 'inherited') 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' http://purl.obolibrary.org/obo/MONDO_0100124 NAA10-related syndrome 'NAA10-related syndrome' SubClassOf 'disease has feature' some 'autism spectrum disorder' http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy 'generalised epilepsy' EquivalentTo 'epilepsy' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition 'DICER1-related tumor predisposition' SubClassOf 'syndromic disease' 'DICER1-related tumor predisposition' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_0006238 future brain 'future brain' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002346 http://www.ebi.ac.uk/efo/EFO_0005855 narcolepsy without cataplexy 'narcolepsy without cataplexy' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005856 arthritis 'arthritis' SubClassOf 'disease has inflammation site' some 'skeletal joint' 'arthritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'skeletal joint') http://purl.obolibrary.org/obo/HP_0009800 Maternal diabetes 'Maternal diabetes' SubClassOf 'Glucose intolerance' 'Maternal diabetes' SubClassOf 'Abnormality of the endocrine system' 'Maternal diabetes' SubClassOf http://purl.obolibrary.org/obo/HP_0000819 http://www.orpha.net/ORDO/Orphanet_77299 Microphthalmia - brain atrophy 'Microphthalmia - brain atrophy' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0100070 neuroendocrine disorder 'neuroendocrine disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0010133 'neuroendocrine disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0010133) http://purl.obolibrary.org/obo/MONDO_0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 'hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016205 IRVAN syndrome 'IRVAN syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100054 idiopathic anaphylaxis 'idiopathic anaphylaxis' EquivalentTo 'anaphylaxis' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0600001 glutaminase deficiency 'glutaminase deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0600003 bacterial hemorrhagic fever 'bacterial hemorrhagic fever' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016226 specific language disorder 'specific language disorder' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016222 spindle cell hemangioma 'spindle cell hemangioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016223 infantile hemangioma of rare localization 'infantile hemangioma of rare localization' SubClassOf 'bearer_of' some 'rare' 'infantile hemangioma of rare localization' SubClassOf 'hemangioma' 'infantile hemangioma of rare localization' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0100061 PRPS1 deficiency disorder 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'nonsyndromic genetic hearing loss' 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'Arts syndrome' 'PRPS1 deficiency disorder' SubClassOf 'disease has feature' some 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0016239 cystinosis 'cystinosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0080145 'cystinosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'lysosome' http://purl.obolibrary.org/obo/MONDO_0016236 kaposiform hemangioendothelioma 'kaposiform hemangioendothelioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100039 CDKL5 disorder 'CDKL5 disorder' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016248 familial ovarian cancer 'familial ovarian cancer' EquivalentTo 'ovarian cancer' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0100040 FOXG1 disorder 'FOXG1 disorder' SubClassOf 'disease has feature' some 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0016259 carcinosarcoma of the corpus uteri 'carcinosarcoma of the corpus uteri' EquivalentTo 'carcinosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0016255 uterine corpus mixed epithelial and mesenchymal neoplasm 'uterine corpus mixed epithelial and mesenchymal neoplasm' EquivalentTo 'mixed neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0016268 papillary carcinoma of the corpus uteri 'papillary carcinoma of the corpus uteri' SubClassOf 'bearer_of' some 'rare' 'papillary carcinoma of the corpus uteri' EquivalentTo 'papillary carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0016260 uterine corpus rhabdomyosarcoma 'uterine corpus rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0016281 46,XX ovotesticular disorder of sex development '46,XX ovotesticular disorder of sex development' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016292 nodular neuronal heterotopia 'nodular neuronal heterotopia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005803 hematologic disease 'hematologic disease' SubClassOf 'bearer_of' some 'rare' 'hematologic disease' SubClassOf 'in taxon' some 'Homo sapiens' 'hematologic disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'hematopoietic system' http://www.ebi.ac.uk/efo/EFO_0005801 cholesterol embolism 'cholesterol embolism' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'blood vessel' http://www.ebi.ac.uk/efo/EFO_0005809 type II hypersensitivity reaction disease 'type II hypersensitivity reaction disease' EquivalentTo 'disease' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0002960) 'type II hypersensitivity reaction disease' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0002960 http://purl.obolibrary.org/obo/MONDO_0016294 Hirschsprung disease-type D brachydactyly syndrome 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005701 malignant rhabdoid tumour 'malignant rhabdoid tumour' SubClassOf 'kidney disease' 'malignant rhabdoid tumour' SubClassOf 'has_disease_location' some ('kidney' or ('part of' some 'kidney')) http://purl.obolibrary.org/obo/HP_0009711 Retinal capillary hemangioma 'Retinal capillary hemangioma' SubClassOf http://purl.obolibrary.org/obo/HP_0010566 http://purl.obolibrary.org/obo/HP_0009717 Cortical tubers 'Cortical tubers' SubClassOf http://purl.obolibrary.org/obo/HP_0010566 http://purl.obolibrary.org/obo/MONDO_0041261 disorder of acid-base balance 'disorder of acid-base balance' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006885 'disorder of acid-base balance' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006885) http://www.ebi.ac.uk/efo/EFO_0005716 retinal cancer 'retinal cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'retina') http://www.ebi.ac.uk/efo/EFO_0005741 infectious disease 'infectious disease' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0005769 calcium metabolic disease 'calcium metabolic disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'calcium ion homeostasis' 'calcium metabolic disease' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/RO_0004024 some 'calcium ion homeostasis') http://www.ebi.ac.uk/efo/EFO_0005751 eye allergy 'eye allergy' EquivalentTo 'allergic disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000019) http://www.ebi.ac.uk/efo/EFO_0005754 parathyroid disease 'parathyroid disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'parathyroid gland' 'parathyroid disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parathyroid gland') http://www.ebi.ac.uk/efo/EFO_0005753 ocular vascular disease 'ocular vascular disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vasculature of eye') 'ocular vascular disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'vasculature of eye' http://www.ebi.ac.uk/efo/EFO_0005783 NUT midline carcinoma 'NUT midline carcinoma' SubClassOf 'bearer_of' some 'rare' 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_0005772 neurodegenerative disease 'neurodegenerative disease' SubClassOf 'disease has major feature' some 'Cerebral degeneration' http://www.ebi.ac.uk/efo/EFO_0005771 ovarian disease 'ovarian disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') 'ovarian disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'ovary' http://www.ebi.ac.uk/efo/EFO_0005774 brain disease 'brain disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brain' 'brain disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://www.ebi.ac.uk/efo/EFO_0005775 aortic disease 'aortic disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'aorta' 'aortic disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'aorta') http://purl.obolibrary.org/obo/HP_0009737 Lisch nodules 'Lisch nodules' SubClassOf http://purl.obolibrary.org/obo/HP_0010566 http://purl.obolibrary.org/obo/HP_0009763 Limb pain 'Limb pain' SubClassOf 'Constitutional symptom' 'Limb pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/HP_0010747 Medial flaring of the eyebrow 'Medial flaring of the eyebrow' SubClassOf 'Abnormality of the face' 'Medial flaring of the eyebrow' SubClassOf 'Abnormality of the integument' 'Medial flaring of the eyebrow' SubClassOf http://purl.obolibrary.org/obo/HP_0000534 http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm 'adrenal cortex neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal cortex') http://www.ebi.ac.uk/efo/EFO_0009619 neuroma 'neuroma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'nerve' http://www.ebi.ac.uk/efo/EFO_0009664 disease of orbital region 'disease of orbital region' SubClassOf 'in taxon' some 'Homo sapiens' 'disease of orbital region' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004088 http://www.ebi.ac.uk/efo/EFO_0009666 enthesopathy 'enthesopathy' SubClassOf 'musculoskeletal system disease' 'enthesopathy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0035845) 'enthesopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0035845 'enthesopathy' SubClassOf 'musculoskeletal system disease' http://www.ebi.ac.uk/efo/EFO_0009667 eustachian tube disease 'eustachian tube disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002393 'eustachian tube disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002393) http://www.ebi.ac.uk/efo/EFO_0009660 anus disease 'anus disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245 'anus disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245) http://www.ebi.ac.uk/efo/EFO_0009661 bronchitis 'bronchitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'bronchus') 'bronchitis' SubClassOf 'disease has inflammation site' some 'bronchus' http://www.ebi.ac.uk/efo/EFO_0009668 external ear disease 'external ear disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'external ear') 'external ear disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'external ear' http://www.ebi.ac.uk/efo/EFO_0009670 gingival disease 'gingival disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'gingiva' 'gingival disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gingiva') http://www.ebi.ac.uk/efo/EFO_0009686 respiratory failure 'respiratory failure' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0007585 http://www.ebi.ac.uk/efo/EFO_0009688 stomatitis 'stomatitis' SubClassOf 'disease has inflammation site' some 'mucosa' 'stomatitis' SubClassOf 'disease has inflammation site' some 'mouth mucosa' 'stomatitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'mouth mucosa') http://www.ebi.ac.uk/efo/EFO_0009689 urethral disease 'urethral disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urethra') 'urethral disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'urethra' http://www.ebi.ac.uk/efo/EFO_0009682 pregnancy disorder 'pregnancy disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0009097 http://www.ebi.ac.uk/efo/EFO_0009685 rectal disease 'rectal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') 'rectal disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'rectum' http://www.ebi.ac.uk/efo/EFO_0009690 urinary system disease 'urinary system disease' SubClassOf 'in taxon' some 'Homo sapiens' 'urinary system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'renal system' http://www.ebi.ac.uk/efo/EFO_0009691 vestibular disease 'vestibular disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0050957 'vestibular disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001862) 'vestibular disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001862 http://www.ebi.ac.uk/efo/EFO_0009692 voice disorders 'voice disorders' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0071625) 'voice disorders' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0071625 http://www.ebi.ac.uk/efo/EFO_0009676 musculoskeletal system disease 'musculoskeletal system disease' SubClassOf 'in taxon' some 'Homo sapiens' 'musculoskeletal system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'musculoskeletal system' http://www.ebi.ac.uk/efo/EFO_0009671 hereditary ataxia 'hereditary ataxia' SubClassOf 'inherited neurodegenerative disorder' 'hereditary ataxia' EquivalentTo 'atactic disorder' and ('bearer_of' some 'inherited') 'hereditary ataxia' SubClassOf 'bearer_of' some 'rare' 'hereditary ataxia' SubClassOf 'hereditary neurological disease' 'hereditary ataxia' SubClassOf 'neurodegenerative disease' http://www.ebi.ac.uk/efo/EFO_0009672 inner ear disease 'inner ear disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'internal ear' 'inner ear disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'internal ear') http://www.ebi.ac.uk/efo/EFO_0009673 laryngeal disease 'laryngeal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'larynx') 'laryngeal disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'larynx' http://www.ebi.ac.uk/efo/EFO_0009674 lens disease 'lens disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'lens of camera-type eye' 'lens disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lens of camera-type eye') http://www.orpha.net/ORDO/Orphanet_102010 Other syndrome with lissencephaly as a major feature 'Other syndrome with lissencephaly as a major feature' SubClassOf 'Lissencephaly' 'Other syndrome with lissencephaly as a major feature' SubClassOf 'Cerebral malformation with epilepsy' http://www.ebi.ac.uk/efo/EFO_0020039 neuronal ceroid-lipofuscinosis, dominant/recessive 'neuronal ceroid-lipofuscinosis, dominant/recessive' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_0020028 autosomal dominant retinitis pigmentosa 'autosomal dominant retinitis pigmentosa' SubClassOf 'Retinal dystrophy' 'autosomal dominant retinitis pigmentosa' SubClassOf 'Genetic vitreous-retinal disease' http://www.ebi.ac.uk/efo/EFO_0020026 autosomal recessive retinitis pigmentosa 'autosomal recessive retinitis pigmentosa' SubClassOf 'Retinal dystrophy' 'autosomal recessive retinitis pigmentosa' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/UBERON_0006849 scapula 'scapula' SubClassOf 'part of' some 'anatomical system' 'scapula' SubClassOf 'part of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0006860 swim bladder 'swim bladder' SubClassOf 'part of' some 'trunk' 'swim bladder' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002075 http://purl.obolibrary.org/obo/UBERON_0006865 metaphysis of femur 'metaphysis of femur' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002495 http://purl.obolibrary.org/obo/UBERON_0006862 diaphysis of femur 'diaphysis of femur' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002495 http://purl.obolibrary.org/obo/MONDO_0012638 microphthalmia-brain atrophy syndrome 'microphthalmia-brain atrophy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012634 craniofacial dysplasia - osteopenia syndrome 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012648 isobutyryl-CoA dehydrogenase deficiency 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001644 http://purl.obolibrary.org/obo/MONDO_0012675 corticosteroid-binding globulin deficiency 'corticosteroid-binding globulin deficiency' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009601 testicular disease 'testicular disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') 'testicular disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'testis' http://www.ebi.ac.uk/efo/EFO_0009606 macular degeneration 'macular degeneration' EquivalentTo 'retinal degeneration' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000053) 'macular degeneration' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000053 http://www.ebi.ac.uk/efo/EFO_0009607 pituitary gland disease 'pituitary gland disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') 'pituitary gland disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland' http://www.ebi.ac.uk/efo/EFO_0009608 stomach disease 'stomach disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'stomach' 'stomach disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_0009609 myocarditis 'myocarditis' EquivalentTo 'disease' and ('disease has inflammation site' some 'myocardium') 'myocarditis' SubClassOf 'disease has inflammation site' some 'myocardium' http://www.ebi.ac.uk/efo/EFO_0009602 prostate disease 'prostate disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') 'prostate disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland' http://www.ebi.ac.uk/efo/EFO_0009604 labyrinthitis 'labyrinthitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'internal ear') 'labyrinthitis' SubClassOf 'disease has inflammation site' some 'internal ear' http://www.ebi.ac.uk/efo/EFO_0009605 pancreas disease 'pancreas disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas') 'pancreas disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas' http://purl.obolibrary.org/obo/MONDO_0036696 spleen neoplasm 'spleen neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spleen') http://www.ebi.ac.uk/efo/EFO_0009544 esophageal disease 'esophageal disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus' 'esophageal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://www.ebi.ac.uk/efo/EFO_0009545 esophageal varices 'esophageal varices' EquivalentTo 'varicose disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://www.ebi.ac.uk/efo/EFO_0009546 eye adnexa disease 'eye adnexa disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0035639) 'eye adnexa disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0035639 http://www.ebi.ac.uk/efo/EFO_0009540 dental pulp disease 'dental pulp disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001754) 'dental pulp disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001754 http://www.ebi.ac.uk/efo/EFO_0009542 disorder of appendix 'disorder of appendix' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') 'disorder of appendix' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix' http://purl.obolibrary.org/obo/UBERON_2000240 metapterygoid 'metapterygoid' SubClassOf 'part of' some 'head' 'metapterygoid' SubClassOf 'part of' some 'anatomical system' 'metapterygoid' SubClassOf 'bone element' 'metapterygoid' SubClassOf 'part of' some 'digestive system' 'metapterygoid' SubClassOf 'part of' some 'skeletal system' 'metapterygoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011597 http://www.ebi.ac.uk/efo/EFO_0009547 eyelid disease 'eyelid disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyelid') 'eyelid disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'eyelid' http://www.ebi.ac.uk/efo/EFO_0009548 fallopian tube disease 'fallopian tube disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'fallopian tube') 'fallopian tube disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'fallopian tube' http://www.ebi.ac.uk/efo/EFO_0009549 female reproductive system disease 'female reproductive system disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'female reproductive system') 'female reproductive system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'female reproductive system' http://www.ebi.ac.uk/efo/EFO_0009532 autonomic nervous system disease 'autonomic nervous system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002410 'autonomic nervous system disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002410) 'autonomic nervous system disease' SubClassOf 'disease has major feature' some 'Abnormal autonomic nervous system physiology' http://www.ebi.ac.uk/efo/EFO_0009533 basal ganglia disease 'basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0010011 'basal ganglia disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0010011) http://www.ebi.ac.uk/efo/EFO_0009534 biliary tract disease 'biliary tract disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001173) 'biliary tract disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001173 http://www.ebi.ac.uk/efo/EFO_0009531 aortic valve disease 'aortic valve disease' SubClassOf 'aortic disease' 'aortic valve disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'aortic valve') 'aortic valve disease' SubClassOf 'aortic disease' 'aortic valve disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'aortic valve' http://www.ebi.ac.uk/efo/EFO_0009536 blepharitis 'blepharitis' SubClassOf 'disease has inflammation site' some 'eyelid' 'blepharitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'eyelid') http://www.ebi.ac.uk/efo/EFO_0009537 cervical disc degenerative disorder 'cervical disc degenerative disorder' EquivalentTo 'lumbar disc degeneration' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0006072) 'cervical disc degenerative disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0006072 http://www.ebi.ac.uk/efo/EFO_0009538 chronic inflammatory demyelinating polyneuropathy 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'bearer_of' some 'rare' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'inherited neurodegenerative disorder' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'hereditary peripheral neuropathy' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'neuroinflammatory disorder' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'hereditary neurological disease' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000774 http://www.ebi.ac.uk/efo/EFO_0009539 congenital mitral malformation 'congenital mitral malformation' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0009565 radiation-induced disorder 'radiation-induced disorder' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0009566 renal tubule disease 'renal tubule disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0009773 'renal tubule disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0009773) http://www.ebi.ac.uk/efo/EFO_0009567 Spirochaetales Infections 'Spirochaetales Infections' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009568 tricuspid valve disease 'tricuspid valve disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002134) 'tricuspid valve disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002134 http://www.ebi.ac.uk/efo/EFO_0009561 parasitic intestinal disease 'parasitic intestinal disease' SubClassOf 'parasitic infection' 'parasitic intestinal disease' SubClassOf 'parasitic infection' 'parasitic intestinal disease' EquivalentTo 'parasitic infection' and (http://purl.obolibrary.org/obo/RO_0004026 some 'intestine') http://www.ebi.ac.uk/efo/EFO_0009564 pulmonary valve disease 'pulmonary valve disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002146 'pulmonary valve disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002146) http://www.ebi.ac.uk/efo/EFO_0009569 trigeminal nerve disease 'trigeminal nerve disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'trigeminal nerve' 'trigeminal nerve disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'trigeminal nerve') http://www.ebi.ac.uk/efo/EFO_0009570 tympanic membrane disease 'tympanic membrane disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002364) 'tympanic membrane disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002364 http://www.ebi.ac.uk/efo/EFO_0009554 malabsorption syndrome 'malabsorption syndrome' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0050892) 'malabsorption syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0050892 http://www.ebi.ac.uk/efo/EFO_0009555 male reproductive system disease 'male reproductive system disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'male reproductive system') 'male reproductive system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'male reproductive system' 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 http://purl.obolibrary.org/obo/RO_0004026 some 'mitral valve' 'mitral valve disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mitral valve') http://www.ebi.ac.uk/efo/EFO_0009550 headache disorder 'headache disorder' SubClassOf 'disease has major feature' some 'Headache' 'headache disorder' EquivalentTo 'neurological pain disorder' and ('disease has major feature' some 'Headache') http://www.ebi.ac.uk/efo/EFO_0009551 heart valve disease 'heart valve disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000946 'heart valve disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000946) http://www.ebi.ac.uk/efo/EFO_0009553 HIV-associated cancer 'HIV-associated cancer' EquivalentTo 'AIDS-related disease' and ('disease has feature' some 'cancer') 'HIV-associated cancer' SubClassOf 'disease has feature' some 'cancer' 'HIV-associated cancer' SubClassOf 'reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_0009559 nerve plexus disease 'nerve plexus disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001810 'nerve plexus disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001810) http://www.ebi.ac.uk/efo/EFO_0009560 otitis externa 'otitis externa' SubClassOf 'disease has inflammation site' some 'external ear' 'otitis externa' SubClassOf 'infectious disorder of the nervous system' http://purl.obolibrary.org/obo/UBERON_2000284 subopercle 'subopercle' SubClassOf 'part of' some 'skeletal system' 'subopercle' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0006761 corneo-scleral junction 'corneo-scleral junction' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000019 http://purl.obolibrary.org/obo/UBERON_0006763 epithelium of conjunctiva 'epithelium of conjunctiva' SubClassOf 'epithelium' 'epithelium of conjunctiva' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000020 'epithelium of conjunctiva' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000019 'epithelium of conjunctiva' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006914 http://purl.obolibrary.org/obo/UBERON_2000264 preopercle 'preopercle' SubClassOf 'part of' some 'skeletal system' 'preopercle' SubClassOf 'part of' some 'anatomical system' http://www.ebi.ac.uk/efo/EFO_0010580 blastic plasmacytoid dendritic cell neoplasm 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/UBERON_2000250 opercle 'opercle' SubClassOf 'part of' some 'skeletal system' 'opercle' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/MONDO_0012502 normophosphatemic familial tumoral calcinosis 'normophosphatemic familial tumoral calcinosis' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/HP_0009900 Unilateral deafness 'Unilateral deafness' SubClassOf 'Hearing abnormality' 'Unilateral deafness' SubClassOf http://purl.obolibrary.org/obo/HP_0000365 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 'disease arises from feature' some 'Abnormality of coagulation' http://purl.obolibrary.org/obo/MONDO_0012580 hereditary pulmonary alveolar proteinosis 'hereditary pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' 'hereditary pulmonary alveolar proteinosis' EquivalentTo 'pulmonary alveolar proteinosis' and ('bearer_of' some 'inherited') 'hereditary pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/HP_0010972 Anemia of inadequate production 'Anemia of inadequate production' SubClassOf http://purl.obolibrary.org/obo/HP_0001903 http://purl.obolibrary.org/obo/MONDO_0012596 PSAT deficiency 'PSAT deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012593 brain-lung-thyroid syndrome 'brain-lung-thyroid syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009855 frontal fibrosing alopecia 'frontal fibrosing alopecia' SubClassOf 'lichen planus, familial' http://purl.obolibrary.org/obo/MONDO_0012393 congenital brain dysgenesis due to glutamine synthetase deficiency 'congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/UBERON_2000549 posttemporal 'posttemporal' SubClassOf 'part of' some 'skeletal system' 'posttemporal' SubClassOf 'part of' some 'anatomical system' 'posttemporal' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 http://purl.obolibrary.org/obo/HP_0030052 Inguinal freckling 'Inguinal freckling' SubClassOf 'Abnormal skin morphology' 'Inguinal freckling' SubClassOf http://purl.obolibrary.org/obo/HP_0001480 http://www.orpha.net/ORDO/Orphanet_48431 Congenital cataracts - facial dysmorphism - neuropathy 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'hereditary motor neuron disease' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf 'motor neuron disease' 'Congenital cataracts - facial dysmorphism - neuropathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000941 http://www.orpha.net/ORDO/Orphanet_48471 Lissencephaly 'Lissencephaly' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Lissencephaly' SubClassOf 'Cerebral malformation with epilepsy' 'Lissencephaly' SubClassOf 'Genetic syndrome with a central nervous system malformation as major feature' 'Lissencephaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_0006676 muscularis mucosa 'muscularis mucosa' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004786 'muscularis mucosa' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/MONDO_0012407 pyridoxal phosphate-responsive seizures 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some http://purl.obolibrary.org/obo/CHEBI_18405) 'pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some http://purl.obolibrary.org/obo/CHEBI_18405 http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'Pitt-Hopkins-like syndrome' '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 'bearer_of' some 'congenital' 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_0012435 3-methylglutaconic aciduria type 5 '3-methylglutaconic aciduria type 5' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001644 http://purl.obolibrary.org/obo/MONDO_0012436 neonatal diabetes mellitus with congenital hypothyroidism 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0012456 congenital primary aphakia 'congenital primary aphakia' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0007707 http://www.ebi.ac.uk/efo/EFO_0010819 clonal hematopoiesis 'clonal hematopoiesis' SubClassOf 'precancerous condition' 'clonal hematopoiesis' SubClassOf 'hematologic disease' 'clonal hematopoiesis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0060782 http://www.ebi.ac.uk/efo/EFO_0009849 sexual arousal 'sexual arousal' SubClassOf 'reproduction' 'sexual arousal' SubClassOf http://purl.obolibrary.org/obo/GO_0022414 http://www.ebi.ac.uk/efo/EFO_0009732 enthesitis-related juvenile idiopathic arthritis 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'disease has feature' some 'enthesitis' http://purl.obolibrary.org/obo/UBERON_2000422 retroarticular 'retroarticular' SubClassOf 'part of' some 'skeletal system' 'retroarticular' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 'retroarticular' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001708 'retroarticular' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0011156 http://purl.obolibrary.org/obo/UBERON_2000425 anterior lateral line nerve 'anterior lateral line nerve' SubClassOf 'part of' some 'nervous system' 'anterior lateral line nerve' SubClassOf 'part of' some 'head' 'anterior lateral line nerve' SubClassOf 'nerve' 'anterior lateral line nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001785 http://purl.obolibrary.org/obo/UBERON_2000419 pterosphenoid 'pterosphenoid' SubClassOf 'part of' some 'skeletal system' 'pterosphenoid' SubClassOf 'part of' some 'anatomical system' 'pterosphenoid' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 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://www.ebi.ac.uk/efo/EFO_0020092 neuroinflammatory disorder 'neuroinflammatory disorder' EquivalentTo 'type II hypersensitivity reaction disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/UBERON_0006597 quadrate bone 'quadrate bone' SubClassOf 'part of' some 'digestive system' 'quadrate bone' SubClassOf 'part of' some 'head' 'quadrate bone' SubClassOf 'part of' some 'anatomical system' 'quadrate bone' SubClassOf 'bone element' 'quadrate bone' SubClassOf 'part of' some 'skeletal system' 'quadrate bone' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011597 http://purl.obolibrary.org/obo/MONDO_0002917 disorder of pilosebaceous unit 'disorder of pilosebaceous unit' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0011932 'disorder of pilosebaceous unit' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0011932) http://purl.obolibrary.org/obo/MONDO_0002912 brainstem cancer 'brainstem cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brainstem') http://purl.obolibrary.org/obo/MONDO_0002913 cerebellar neoplasm 'cerebellar neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebellum') http://purl.obolibrary.org/obo/MONDO_0002930 kidney sarcoma 'kidney sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://purl.obolibrary.org/obo/MONDO_0002974 cervical cancer 'cervical cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://purl.obolibrary.org/obo/MONDO_0002970 ciliary body disorder 'ciliary body disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001775) 'ciliary body disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001775 http://purl.obolibrary.org/obo/MONDO_0002977 autoimmune disorder of the nervous system 'autoimmune disorder of the nervous system' EquivalentTo 'type II hypersensitivity reaction disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nervous system') http://purl.obolibrary.org/obo/MONDO_0002996 cavernous sinus meningioma 'cavernous sinus meningioma' EquivalentTo 'meningioma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003712) 'cavernous sinus meningioma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003712 http://purl.obolibrary.org/obo/MONDO_0002998 skull base meningioma 'skull base meningioma' EquivalentTo 'meningioma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002517) http://purl.obolibrary.org/obo/GO_0043400 cortisol secretion 'cortisol secretion' SubClassOf 'part of' some http://purl.obolibrary.org/obo/GO_0050886 http://purl.obolibrary.org/obo/MONDO_0012164 Meacham syndrome 'Meacham syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012198 PCWH syndrome 'PCWH syndrome' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia 'idiopathic aplastic anemia' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/UBERON_0002031 epithelium of bronchus 'epithelium of bronchus' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001558 'epithelium of bronchus' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007196 http://purl.obolibrary.org/obo/UBERON_0002048 lung 'lung' SubClassOf 'anatomical structure' 'lung' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002075 http://purl.obolibrary.org/obo/UBERON_0002049 vasculature 'vasculature' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007798 http://purl.obolibrary.org/obo/UBERON_0002051 epithelium of bronchiole 'epithelium of bronchiole' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001558 'epithelium of bronchiole' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007196 http://purl.obolibrary.org/obo/UBERON_0002058 main ciliary ganglion 'main ciliary ganglion' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0035639 'main ciliary ganglion' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002410 'main ciliary ganglion' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004088 http://purl.obolibrary.org/obo/UBERON_0002005 enteric nervous system 'enteric nervous system' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002410 http://purl.obolibrary.org/obo/UBERON_0002012 pulmonary artery 'pulmonary artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0013768 'pulmonary artery' DisjointWith http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/MONDO_0002816 adrenal cortex disorder 'adrenal cortex disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal cortex' 'adrenal cortex disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal cortex') http://purl.obolibrary.org/obo/MONDO_0002817 adrenal gland cancer 'adrenal gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002369) http://purl.obolibrary.org/obo/MONDO_0002812 infectious otitis interna 'infectious otitis interna' SubClassOf 'infectious disorder of the nervous system' http://purl.obolibrary.org/obo/MONDO_0002813 lipomatous cancer 'lipomatous cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adipose tissue') http://purl.obolibrary.org/obo/MONDO_0002814 adrenal carcinoma 'adrenal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002369) http://purl.obolibrary.org/obo/MONDO_0002822 trabecular adenocarcinoma 'trabecular adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000440 'trabecular adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000440) http://purl.obolibrary.org/obo/UBERON_0002073 hair follicle 'hair follicle' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0011932 http://purl.obolibrary.org/obo/MONDO_0002839 leather-bottle stomach 'leather-bottle stomach' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001167 http://purl.obolibrary.org/obo/MONDO_0002836 urethra transitional cell carcinoma 'urethra transitional cell carcinoma' EquivalentTo 'Transitional Cell Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urethra') http://purl.obolibrary.org/obo/MONDO_0002852 mediastinum sarcoma 'mediastinum sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum') http://purl.obolibrary.org/obo/MONDO_0002854 prostate sarcoma 'prostate sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://purl.obolibrary.org/obo/MONDO_0002866 duodenal disorder 'duodenal disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'duodenum') 'duodenal disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'duodenum' http://purl.obolibrary.org/obo/MONDO_0002876 cervical adenosarcoma 'cervical adenosarcoma' EquivalentTo 'adenosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://purl.obolibrary.org/obo/MONDO_0002877 cervical carcinosarcoma 'cervical carcinosarcoma' EquivalentTo 'carcinosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://purl.obolibrary.org/obo/MONDO_0002871 testicular trophoblastic tumor 'testicular trophoblastic tumor' EquivalentTo 'trophoblastic neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') http://purl.obolibrary.org/obo/MONDO_0002872 trophoblastic neoplasm 'trophoblastic neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000088 'trophoblastic neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000088) http://purl.obolibrary.org/obo/MONDO_0002878 uterine corpus adenosarcoma 'uterine corpus adenosarcoma' EquivalentTo 'adenosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0002879 uterine body mixed cancer 'uterine body mixed cancer' EquivalentTo 'Malignant Mixed Neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0002886 common bile duct disorder 'common bile duct disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'common bile duct') 'common bile duct disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'common bile duct' http://purl.obolibrary.org/obo/MONDO_0002887 bile duct disorder 'bile duct disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'bile duct' 'bile duct disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bile duct') http://purl.obolibrary.org/obo/MONDO_0002882 colon neuroendocrine neoplasm 'colon neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0002883 intestinal neuroendocrine neoplasm 'intestinal neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'intestine') http://purl.obolibrary.org/obo/MONDO_0002884 nail disorder 'nail disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nail') 'nail disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'nail' http://purl.obolibrary.org/obo/MONDO_0012208 congenital reticular ichthyosiform erythroderma 'congenital reticular ichthyosiform erythroderma' SubClassOf 'inherited ichthyosis' 'congenital reticular ichthyosiform erythroderma' SubClassOf 'bearer_of' some 'congenital' 'congenital reticular ichthyosiform erythroderma' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0012209 branchiogenic deafness syndrome 'branchiogenic deafness syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012203 familial hyperthyroidism due to mutations in TSH receptor 'familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0002898 skin cancer 'skin cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0012211 MPDU1-congenital disorder of glycosylation 'MPDU1-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012032 Braddock syndrome 'Braddock syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012061 familial sick sinus syndrome 'familial sick sinus syndrome' EquivalentTo 'sick sinus syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/HP_0030157 Flank pain 'Flank pain' SubClassOf 'Constitutional symptom' 'Flank pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/HP_0030195 Fatigable weakness of swallowing muscles 'Fatigable weakness of swallowing muscles' SubClassOf 'Muscle weakness' 'Fatigable weakness of swallowing muscles' SubClassOf 'Abnormal nervous system physiology' 'Fatigable weakness of swallowing muscles' SubClassOf http://purl.obolibrary.org/obo/HP_0003473 http://purl.obolibrary.org/obo/MONDO_0002708 retinitis 'retinitis' SubClassOf 'disease has inflammation site' some 'retina' 'retinitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'retina') http://purl.obolibrary.org/obo/MONDO_0002718 central nervous system teratoma 'central nervous system teratoma' EquivalentTo 'teratoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0002715 uterine cancer 'uterine cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterus') http://purl.obolibrary.org/obo/MONDO_0002722 olfactory nerve neoplasm 'olfactory nerve neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001579) http://purl.obolibrary.org/obo/MONDO_0002727 olfactory nerve disorder 'olfactory nerve disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001579 'olfactory nerve disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001579) http://purl.obolibrary.org/obo/MONDO_0002732 lung benign neoplasm 'lung benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0002742 cervical mucinous adenocarcinoma 'cervical mucinous adenocarcinoma' EquivalentTo 'mucinous carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_0009903 inflammatory disease 'inflammatory disease' SubClassOf 'in taxon' some 'Homo sapiens' 'inflammatory disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'inflammatory response' 'inflammatory disease' SubClassOf 'disease has inflammation site' some 'anatomical structure' http://www.ebi.ac.uk/efo/EFO_0009904 Lopes-Maciel-Rodan syndrome 'Lopes-Maciel-Rodan syndrome' SubClassOf 'hereditary neurological disease' 'Lopes-Maciel-Rodan syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009907 Desmoid-type fibromatosis 'Desmoid-type fibromatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0002746 fallopian tube adenocarcinoma 'fallopian tube adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0002764 urethra squamous cell carcinoma 'urethra squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urethra') http://purl.obolibrary.org/obo/MONDO_0002786 diencephalic cancer 'diencephalic cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'diencephalon' 'diencephalic cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'diencephalon') http://purl.obolibrary.org/obo/MONDO_0002785 skull base neoplasm 'skull base neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002517) 'skull base neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002517 http://purl.obolibrary.org/obo/MONDO_0012104 acquired partial lipodystrophy 'acquired partial lipodystrophy' EquivalentTo 'partial lipodystrophy' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation 'COG7-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012117 ALG9-congenital disorder of glycosylation 'ALG9-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012124 sudden infant death-dysgenesis of the testes syndrome 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0010956 peroxisome biogenesis disorder, complementation group 7 'peroxisome biogenesis disorder, complementation group 7' SubClassOf 'inborn errors of metabolism' 'peroxisome biogenesis disorder, complementation group 7' SubClassOf 'genetic disorder' 'peroxisome biogenesis disorder, complementation group 7' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0009950 disease of extraembryonic membrane 'disease of extraembryonic membrane' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005631) 'disease of extraembryonic membrane' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005631 http://purl.obolibrary.org/obo/MONDO_0002586 thymus cancer 'thymus cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://purl.obolibrary.org/obo/MONDO_0002580 orbit rhabdomyosarcoma 'orbit rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004088) http://purl.obolibrary.org/obo/MONDO_0002597 notochordal tumor 'notochordal tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002328) 'notochordal tumor' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002328 http://www.ebi.ac.uk/efo/EFO_0005046 cutaneous Leishmaniasis 'cutaneous Leishmaniasis' EquivalentTo 'Leishmaniasis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://www.ebi.ac.uk/efo/EFO_0005044 Leishmaniasis 'Leishmaniasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002075 http://www.ebi.ac.uk/efo/EFO_0005088 testicular carcinoma 'testicular carcinoma' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') http://purl.obolibrary.org/obo/UBERON_2000175 posterior lateral line nerve 'posterior lateral line nerve' SubClassOf 'part of' some 'nervous system' 'posterior lateral line nerve' SubClassOf 'part of' some 'head' 'posterior lateral line nerve' SubClassOf 'nerve' 'posterior lateral line nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001785 http://purl.obolibrary.org/obo/HP_0005465 Facial hyperostosis 'Facial hyperostosis' SubClassOf http://purl.obolibrary.org/obo/HP_0100774 http://purl.obolibrary.org/obo/MONDO_0002601 teratoma 'teratoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0002605 hepatic angiomyolipoma 'hepatic angiomyolipoma' EquivalentTo 'angiomyolipoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://purl.obolibrary.org/obo/MONDO_0002612 frontal lobe epilepsy 'frontal lobe epilepsy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'frontal lobe' 'frontal lobe epilepsy' EquivalentTo 'epilepsy' and (http://purl.obolibrary.org/obo/RO_0004026 some 'frontal lobe') http://purl.obolibrary.org/obo/MONDO_0002619 bone fibrosarcoma 'bone fibrosarcoma' EquivalentTo 'fibrosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002481) http://purl.obolibrary.org/obo/MONDO_0002615 xanthomatosis 'xanthomatosis' SubClassOf 'disease has feature' some 'xanthoma' http://purl.obolibrary.org/obo/MONDO_0002633 cranial nerve neoplasm 'cranial nerve neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001785 'cranial nerve neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001785) http://purl.obolibrary.org/obo/MONDO_0002635 periodontal disorder 'periodontal disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001758) 'periodontal disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001758 http://purl.obolibrary.org/obo/MONDO_0002647 laryngitis 'laryngitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'larynx') 'laryngitis' SubClassOf 'disease has inflammation site' some 'larynx' http://purl.obolibrary.org/obo/MONDO_0002654 uterine disorder 'uterine disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'uterus' 'uterine disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterus') http://purl.obolibrary.org/obo/MONDO_0002652 anus adenocarcinoma 'anus adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245) http://purl.obolibrary.org/obo/MONDO_0002665 extrahepatic bile duct adenocarcinoma 'extrahepatic bile duct adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003703) http://purl.obolibrary.org/obo/MONDO_0002661 uveal disorder 'uveal disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001768 'uveal disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001768) http://purl.obolibrary.org/obo/MONDO_0002664 extrahepatic bile duct signet ring cell carcinoma 'extrahepatic bile duct signet ring cell carcinoma' EquivalentTo 'signet ring cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003703) http://purl.obolibrary.org/obo/MONDO_0002679 cerebral infarction 'cerebral infarction' EquivalentTo 'brain infarction' and (http://purl.obolibrary.org/obo/RO_0004026 some 'telencephalon') 'cerebral infarction' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'telencephalon' http://purl.obolibrary.org/obo/MONDO_0002691 liver cancer 'liver cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://purl.obolibrary.org/obo/MONDO_0002468 hyperimmunoglobulin syndrome 'hyperimmunoglobulin syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0019814 'hyperimmunoglobulin syndrome' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0019814) http://purl.obolibrary.org/obo/MONDO_0002463 lacrimal gland carcinoma 'lacrimal gland carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0003876 'lacrimal gland carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lacrimal gland') http://purl.obolibrary.org/obo/MONDO_0002464 lacrimal gland cancer 'lacrimal gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lacrimal gland') http://purl.obolibrary.org/obo/MONDO_0002466 eye carcinoma 'eye carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyeball of camera-type eye') http://purl.obolibrary.org/obo/MONDO_0002460 lacrimal system cancer 'lacrimal system cancer' SubClassOf 'ocular cancer' 'lacrimal system cancer' SubClassOf 'eyelid cancer' 'lacrimal system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001750) http://purl.obolibrary.org/obo/MONDO_0002462 glomerulonephritis 'glomerulonephritis' SubClassOf 'disease causes feature' some 'kidney failure' 'glomerulonephritis' EquivalentTo 'nephritis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal glomerulus') http://purl.obolibrary.org/obo/MONDO_0002475 lacrimal gland adenocarcinoma 'lacrimal gland adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lacrimal gland') http://purl.obolibrary.org/obo/MONDO_0002477 prostate neuroendocrine neoplasm 'prostate neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://purl.obolibrary.org/obo/MONDO_0002471 bursitis 'bursitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0003668 'bursitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0003668) http://purl.obolibrary.org/obo/MONDO_0002481 ovarian neuroendocrine neoplasm 'ovarian neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0002482 nipple neoplasm 'nipple neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002030) 'nipple neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002030 http://purl.obolibrary.org/obo/MONDO_0002490 breast sarcoma 'breast sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://purl.obolibrary.org/obo/GO_0043084 penile erection 'penile erection' SubClassOf 'part of' some 'reproduction' 'penile erection' SubClassOf 'biological_process' 'penile erection' SubClassOf http://purl.obolibrary.org/obo/GO_0022414 http://purl.obolibrary.org/obo/HP_0005310 Large vessel vasculitis 'Large vessel vasculitis' SubClassOf 'Abnormal cardiovascular system morphology' 'Large vessel vasculitis' SubClassOf 'Abnormality of the vasculature' 'Large vessel vasculitis' SubClassOf http://purl.obolibrary.org/obo/HP_0002633 http://purl.obolibrary.org/obo/MONDO_0002508 gingivitis 'gingivitis' SubClassOf 'disease has inflammation site' some 'gingiva' 'gingivitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'gingiva') http://purl.obolibrary.org/obo/MONDO_0002513 kidney benign neoplasm 'kidney benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://purl.obolibrary.org/obo/MONDO_0002516 digestive system cancer 'digestive system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system') http://purl.obolibrary.org/obo/MONDO_0002525 inherited lipid metabolism disorder 'inherited lipid metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'lipid metabolic process' 'inherited lipid metabolism disorder' EquivalentTo 'inborn errors of metabolism' and (http://purl.obolibrary.org/obo/RO_0004024 some 'lipid metabolic process') http://purl.obolibrary.org/obo/MONDO_0002520 hepatic porphyria 'hepatic porphyria' EquivalentTo 'porphyria' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://purl.obolibrary.org/obo/MONDO_0002528 synovium neoplasm 'synovium neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002018 'synovium neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002018) http://purl.obolibrary.org/obo/MONDO_0002529 skin squamous cell carcinoma 'skin squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0002542 spinal cord glioma 'spinal cord glioma' EquivalentTo 'malignant glioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spinal cord') http://purl.obolibrary.org/obo/MONDO_0002567 tracheal disorder 'tracheal disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'trachea') 'tracheal disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'trachea' http://purl.obolibrary.org/obo/MONDO_0002562 demyelinating disease 'demyelinating disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0043217 'demyelinating disease' EquivalentTo 'neurodegenerative disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0043217) http://purl.obolibrary.org/obo/MONDO_0002564 jejunal neoplasm 'jejunal neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'jejunum' 'jejunal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'jejunum') http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease 'lysosomal storage disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'lysosome' 'lysosomal storage disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some 'lysosome') http://purl.obolibrary.org/obo/UBERON_0001111 intercostal muscle 'intercostal muscle' SubClassOf 'anatomical structure' 'intercostal muscle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005090 http://purl.obolibrary.org/obo/UBERON_0001134 skeletal muscle tissue 'skeletal muscle tissue' SubClassOf 'part of' some 'multicellular organism' 'skeletal muscle tissue' SubClassOf 'part of' some 'musculature' 'skeletal muscle tissue' SubClassOf 'anatomical structure' 'skeletal muscle tissue' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002385 http://purl.obolibrary.org/obo/UBERON_0001133 DisjointWith 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0001135 smooth muscle tissue 'smooth muscle tissue' SubClassOf 'part of' some 'multicellular organism' 'smooth muscle tissue' SubClassOf 'part of' some 'musculature' 'smooth muscle tissue' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002385 http://purl.obolibrary.org/obo/UBERON_0001184 renal artery 'renal artery' SubClassOf 'artery' 'renal artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/MONDO_0022800 type 2 collagenopathy 'type 2 collagenopathy' SubClassOf 'syndromic disease' 'type 2 collagenopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005585 'type 2 collagenopathy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005585) 'type 2 collagenopathy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_0001143 hepatic vein 'hepatic vein' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0006877 http://purl.obolibrary.org/obo/UBERON_0001156 ascending colon 'ascending colon' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0001157 transverse colon 'transverse colon' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0001158 descending colon 'descending colon' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0001159 sigmoid colon 'sigmoid colon' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0001153 caecum 'caecum' SubClassOf 'anatomical structure' 'caecum' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009854 http://purl.obolibrary.org/obo/UBERON_0001155 colon 'colon' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/MONDO_0007216 brachydactyly type A2 'brachydactyly type A2' SubClassOf 'syndromic disease' 'brachydactyly type A2' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_0001160 fundus of stomach 'fundus of stomach' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0001165 pyloric antrum 'pyloric antrum' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/MONDO_0007226 brachydactyly-nystagmus-cerebellar ataxia syndrome 'brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'syndromic disease' 'brachydactyly-nystagmus-cerebellar ataxia syndrome' SubClassOf 'syndromic disease' 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' EquivalentTo 'hemolytic-uremic syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0001174 common bile duct 'common bile duct' SubClassOf 'bile duct' 'common bile duct' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001173 'common bile duct' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003703 http://purl.obolibrary.org/obo/MONDO_0007254 breast cancer 'breast cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') 'breast cancer' SubClassOf 'integumentary system cancer' http://purl.obolibrary.org/obo/MONDO_0007269 dilated cardiomyopathy 1A 'dilated cardiomyopathy 1A' SubClassOf 'syndromic disease' 'dilated cardiomyopathy 1A' SubClassOf 'disease has feature' some 'cardiomyopathy' 'dilated cardiomyopathy 1A' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007263 cardiac rhythm disease 'cardiac rhythm disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0003015 http://purl.obolibrary.org/obo/MONDO_0957048 isolated macular dystrophy 'isolated macular dystrophy' SubClassOf 'bearer_of' some 'has an isolated presentation' http://www.orpha.net/ORDO/Orphanet_227535 Hereditary breast cancer 'Hereditary breast cancer' SubClassOf 'hereditary breast carcinoma' 'Hereditary breast cancer' SubClassOf 'breast carcinoma' 'Hereditary breast cancer' SubClassOf 'reproductive system cancer' http://purl.obolibrary.org/obo/UBERON_0001007 digestive system 'digestive system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_0001009 circulatory system 'circulatory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_0001004 respiratory system 'respiratory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_0001000 vas deferens 'vas deferens' SubClassOf 'anatomical structure' 'vas deferens' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000058 http://purl.obolibrary.org/obo/UBERON_0001016 nervous system 'nervous system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_0001066 intervertebral disk 'intervertebral disk' SubClassOf 'part of' some 'anatomical system' 'intervertebral disk' SubClassOf 'part of' some 'skeletal system' 'intervertebral disk' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007844 'intervertebral disk' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001468 'intervertebral disk' SubClassOf 'joint component' http://purl.obolibrary.org/obo/UBERON_0001091 calcareous tooth 'calcareous tooth' SubClassOf 'part of' some 'anatomical system' 'calcareous tooth' SubClassOf 'part of' some 'skeletal system' 'calcareous tooth' SubClassOf 'skeleton structure' 'calcareous tooth' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004765 http://purl.obolibrary.org/obo/UBERON_0001037 strand of hair 'strand of hair' SubClassOf 'part of' some 'multicellular organism' 'strand of hair' SubClassOf 'anatomical structure' 'strand of hair' SubClassOf 'part of' some 'integumental system' 'strand of hair' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0011932 'strand of hair' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000021 http://purl.obolibrary.org/obo/UBERON_0001038 chordotonal organ 'chordotonal organ' SubClassOf 'part of' some 'sensory system' 'chordotonal organ' SubClassOf 'anatomical structure' 'chordotonal organ' SubClassOf 'part of' some 'anatomical system' 'chordotonal organ' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000020 http://purl.obolibrary.org/obo/UBERON_0001033 gustatory system 'gustatory system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_0001040 yolk sac 'yolk sac' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005631 http://purl.obolibrary.org/obo/UBERON_0001042 chordate pharynx 'chordate pharynx' SubClassOf 'anatomical structure' 'chordate pharynx' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006562 http://purl.obolibrary.org/obo/UBERON_0001043 esophagus 'esophagus' SubClassOf 'anatomical structure' 'esophagus' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 'esophagus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002075 http://purl.obolibrary.org/obo/UBERON_0001044 saliva-secreting gland 'saliva-secreting gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 'saliva-secreting gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0001045 midgut 'midgut' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/MONDO_0007105 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 '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 with motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex 'amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'disease has feature' some 'amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0007101 familial primary localized cutaneous amyloidosis 'familial primary localized cutaneous amyloidosis' EquivalentTo 'primary cutaneous amyloidosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0001052 rectum 'rectum' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/MONDO_0022723 chondrodysplasia 'chondrodysplasia' SubClassOf 'syndromic disease' 'chondrodysplasia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_0001054 Malpighian tubule 'Malpighian tubule' SubClassOf 'part of' some 'renal system' 'Malpighian tubule' SubClassOf 'epithelium' 'Malpighian tubule' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009773 http://purl.obolibrary.org/obo/MONDO_0007118 isolated anhidrosis with normal sweat glands 'isolated anhidrosis with normal sweat glands' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007119 isolated aniridia 'isolated aniridia' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated aniridia' EquivalentTo 'aniridia' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0007116 hereditary neurocutaneous angioma 'hereditary neurocutaneous angioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007113 Angelman syndrome 'Angelman syndrome' SubClassOf 'bearer_of' some 'rare' 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_0007154 arteriovenous malformations of the brain 'arteriovenous malformations of the brain' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007187 nevoid basal cell carcinoma syndrome 'nevoid basal cell carcinoma syndrome' SubClassOf 'disease has feature' some 'malignant tumor of palpebral epidermis' http://purl.obolibrary.org/obo/MONDO_0007194 familial bicuspid aortic valve 'familial bicuspid aortic valve' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/GO_0045321 leukocyte activation 'leukocyte activation' SubClassOf http://purl.obolibrary.org/obo/GO_0002376 http://purl.obolibrary.org/obo/UBERON_2001051 caudal division of the internal carotid artery 'caudal division of the internal carotid artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/UBERON_2001053 future internal carotid artery 'future internal carotid artery' SubClassOf 'artery' 'future internal carotid artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/UBERON_2001059 cranial division of the internal carotid artery 'cranial division of the internal carotid artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/MONDO_0007031 familial abdominal aortic aneurysm 'familial abdominal aortic aneurysm' EquivalentTo 'Abdominal Aortic Aneurysm' and ('bearer_of' some 'inherited') 'familial abdominal aortic aneurysm' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0030834 Shoulder pain 'Shoulder pain' SubClassOf 'Constitutional symptom' 'Shoulder pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/MONDO_0007051 acromegaloid facial appearance syndrome 'acromegaloid facial appearance syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0030833 Neck pain 'Neck pain' SubClassOf 'Constitutional symptom' 'Neck pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/HP_0030838 Hip pain 'Hip pain' SubClassOf 'Constitutional symptom' 'Hip pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/MONDO_0007062 adactylia, unilateral 'adactylia, unilateral' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0022687 cerebellar degeneration 'cerebellar degeneration' EquivalentTo 'neurodegenerative disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebellum') http://purl.obolibrary.org/obo/MONDO_0007077 Tietz syndrome 'Tietz syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007099 familial visceral amyloidosis 'familial visceral amyloidosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007097 Finnish type amyloidosis 'Finnish type amyloidosis' SubClassOf 'acquired peripheral neuropathy' http://www.orpha.net/ORDO/Orphanet_178333 Åland Islands eye disease 'Åland Islands eye disease' SubClassOf 'Retinal dystrophy' 'Åland Islands eye disease' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/GO_0035932 aldosterone secretion 'aldosterone secretion' SubClassOf 'part of' some http://purl.obolibrary.org/obo/GO_0050886 http://purl.obolibrary.org/obo/HP_0005879 Congenital finger flexion contractures 'Congenital finger flexion contractures' SubClassOf 'Limb joint contracture' 'Congenital finger flexion contractures' SubClassOf 'Abnormality of upper limb joint' 'Congenital finger flexion contractures' SubClassOf http://purl.obolibrary.org/obo/HP_0009473 http://purl.obolibrary.org/obo/UBERON_0015423 hilar portion of hepatic duct 'hilar portion of hepatic duct' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001173 http://purl.obolibrary.org/obo/HP_0030766 Ear pain 'Ear pain' SubClassOf 'Constitutional symptom' 'Ear pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/HP_0040188 Osteochondrosis 'Osteochondrosis' SubClassOf http://purl.obolibrary.org/obo/HP_0010885 http://purl.obolibrary.org/obo/GO_0035812 renal sodium excretion 'renal sodium excretion' SubClassOf 'part of' some http://purl.obolibrary.org/obo/GO_0055078 http://purl.obolibrary.org/obo/UBERON_0001621 coronary artery 'coronary artery' SubClassOf 'artery' 'coronary artery' SubClassOf 'heart component' 'coronary artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 'coronary artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005985 http://purl.obolibrary.org/obo/UBERON_0001645 trigeminal nerve 'trigeminal nerve' SubClassOf 'nerve' 'trigeminal nerve' SubClassOf 'part of' some 'nervous system' 'trigeminal nerve' SubClassOf 'part of' some 'head' 'trigeminal nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001785 http://purl.obolibrary.org/obo/UBERON_0001601 extra-ocular muscle 'extra-ocular muscle' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000019 'extra-ocular muscle' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0035639 'extra-ocular muscle' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 http://purl.obolibrary.org/obo/UBERON_0001471 skin of prepuce of penis 'skin of prepuce of penis' SubClassOf 'part of' some 'penis' 'skin of prepuce of penis' SubClassOf 'part of' some 'reproductive system' 'skin of prepuce of penis' SubClassOf 'zone of skin' 'skin of prepuce of penis' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001331 http://purl.obolibrary.org/obo/UBERON_0001474 bone element 'bone element' SubClassOf 'part of' some 'anatomical system' 'bone element' SubClassOf 'skeleton structure' 'bone element' DisjointWith http://purl.obolibrary.org/obo/UBERON_0005090 'bone element' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004765 http://purl.obolibrary.org/obo/UBERON_0001423 radius bone 'radius bone' SubClassOf 'part of' some 'skeletal system' 'radius bone' SubClassOf 'part of' some 'anatomical system' 'radius bone' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002495 http://purl.obolibrary.org/obo/UBERON_0001434 skeletal system 'skeletal system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_0001446 fibula 'fibula' SubClassOf 'part of' some 'skeletal system' 'fibula' SubClassOf 'part of' some 'appendicular skeleton' 'fibula' SubClassOf 'hindlimb bone' 'fibula' SubClassOf 'part of' some 'anatomical system' 'fibula' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003608 http://purl.obolibrary.org/obo/UBERON_0001450 calcaneus 'calcaneus' SubClassOf 'part of' some 'skeletal system' 'calcaneus' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/MONDO_0012907 blindness - scoliosis - arachnodactyly syndrome 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012901 inherited prekallikrein deficiency 'inherited prekallikrein deficiency' EquivalentTo 'prekallikrein deficiency' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0022316 hair defect with photosensitivity and intellectual disability syndrome 'hair defect with photosensitivity and intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' '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/MONDO_0022308 corticobasal degeneration disorder 'corticobasal degeneration disorder' SubClassOf 'syndromic disease' 'corticobasal degeneration disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'telencephalon' 'corticobasal degeneration disorder' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_0001529 brachiocephalic artery 'brachiocephalic artery' SubClassOf 'artery' 'brachiocephalic artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/MONDO_0022394 cervical intraepithelial neoplasia 'cervical intraepithelial neoplasia' SubClassOf 'bearer_of' some 'rare' 'cervical intraepithelial neoplasia' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0030159 http://purl.obolibrary.org/obo/UBERON_0001301 epididymis 'epididymis' SubClassOf 'anatomical structure' 'epididymis' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000058 http://purl.obolibrary.org/obo/UBERON_0001322 sciatic nerve 'sciatic nerve' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001815 http://purl.obolibrary.org/obo/HP_0001128 Trichiasis 'Trichiasis' SubClassOf 'Abnormality of the integument' 'Trichiasis' SubClassOf 'Abnormality of the face' 'Trichiasis' SubClassOf http://purl.obolibrary.org/obo/HP_0000499 http://purl.obolibrary.org/obo/HP_0001162 Postaxial hand polydactyly 'Postaxial hand polydactyly' SubClassOf http://purl.obolibrary.org/obo/HP_0010442 http://purl.obolibrary.org/obo/HP_0001094 Iridocyclitis 'Iridocyclitis' SubClassOf 'Increased inflammatory response' 'Iridocyclitis' SubClassOf 'Abnormality of the eye' 'Iridocyclitis' SubClassOf http://purl.obolibrary.org/obo/HP_0000554 http://purl.obolibrary.org/obo/MONDO_0012856 Birk-Barel syndrome 'Birk-Barel syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'disease has feature' some 'hyperphosphatemia' http://purl.obolibrary.org/obo/MONDO_0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'disease has feature' some 'hyperphosphatemia' http://purl.obolibrary.org/obo/MONDO_0012885 SRD5A3-congenital disorder of glycosylation 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012897 congenital factor XI deficiency 'congenital factor XI deficiency' EquivalentTo 'factor XI deficiency' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0036870 lymphatic vessel neoplasm 'lymphatic vessel neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'lymphatic vessel' 'lymphatic vessel neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lymphatic vessel') http://purl.obolibrary.org/obo/MONDO_0022293 vascular disorder of penis 'vascular disorder of penis' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036269) 'vascular disorder of penis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036269 http://purl.obolibrary.org/obo/UBERON_0001238 lamina propria of small intestine 'lamina propria of small intestine' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004786 http://purl.obolibrary.org/obo/UBERON_0001235 adrenal cortex 'adrenal cortex' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002369 http://purl.obolibrary.org/obo/UBERON_0001236 adrenal medulla 'adrenal medulla' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002369 http://purl.obolibrary.org/obo/UBERON_0001231 nephron tubule 'nephron tubule' SubClassOf 'epithelium' 'nephron tubule' SubClassOf 'part of' some 'renal system' 'nephron tubule' SubClassOf http://purl.obolibrary.org/obo/UBERON_0009773 http://purl.obolibrary.org/obo/UBERON_0001255 urinary bladder 'urinary bladder' SubClassOf 'part of' some 'trunk' 'urinary bladder' SubClassOf 'anatomical structure' 'urinary bladder' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001556 'urinary bladder' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002075 http://purl.obolibrary.org/obo/UBERON_0001211 Peyer's patch 'Peyer's patch' SubClassOf 'lymphoid tissue' 'Peyer's patch' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 'Peyer's patch' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001961 'Peyer's patch' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001242 http://purl.obolibrary.org/obo/UBERON_0001263 pancreatic acinus 'pancreatic acinus' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000017 http://purl.obolibrary.org/obo/UBERON_0001264 pancreas 'pancreas' SubClassOf 'part of' some 'trunk' 'pancreas' SubClassOf 'part of' some 'anatomical system' 'pancreas' SubClassOf 'anatomical structure' 'pancreas' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002075 http://purl.obolibrary.org/obo/UBERON_0001277 intestinal epithelium 'intestinal epithelium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001242 'intestinal epithelium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0001273 ilium 'ilium' SubClassOf 'part of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0001281 hepatic sinusoid 'hepatic sinusoid' SubClassOf 'part of' some 'blood vessel' 'hepatic sinusoid' SubClassOf 'endothelium' 'hepatic sinusoid' SubClassOf 'part of' some 'cardiovascular system' 'hepatic sinusoid' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0006877 'hepatic sinusoid' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004638 http://purl.obolibrary.org/obo/UBERON_0001282 intralobular bile duct 'intralobular bile duct' SubClassOf 'bile duct' 'intralobular bile duct' SubClassOf 'part of' some 'liver' 'intralobular bile duct' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003704 http://purl.obolibrary.org/obo/MONDO_0012757 lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome 'lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012783 RFT1-congenital disorder of glycosylation 'RFT1-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' 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 'syndromic disease' 'mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/HP_0001302 Pachygyria 'Pachygyria' SubClassOf 'Abnormal cortical gyration' 'Pachygyria' SubClassOf http://purl.obolibrary.org/obo/HP_0001339 http://purl.obolibrary.org/obo/MONDO_0017410 porencephaly 'porencephaly' SubClassOf 'disease has feature' some 'structural epilepsy' http://purl.obolibrary.org/obo/MONDO_0017427 congenital deformities of limbs 'congenital deformities of limbs' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017438 amelia of lower limb 'amelia of lower limb' EquivalentTo 'non-syndromic amelia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hindlimb') 'amelia of lower limb' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'hindlimb' http://purl.obolibrary.org/obo/MONDO_0017437 amelia of upper limb 'amelia of upper limb' EquivalentTo 'non-syndromic amelia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'forelimb') 'amelia of upper limb' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'forelimb' http://purl.obolibrary.org/obo/HP_0001386 Joint swelling 'Joint swelling' SubClassOf 'Abnormality of metabolism/homeostasis' 'Joint swelling' SubClassOf http://purl.obolibrary.org/obo/HP_0000969 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 'bearer_of' some 'congenital' 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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017443 congenital absence of both forearm and hand 'congenital absence of both forearm and hand' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017444 congenital absence of both lower leg and foot 'congenital absence of both lower leg and foot' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017452 non-syndromic brachydactyly of toes 'non-syndromic brachydactyly of toes' EquivalentTo 'non-syndromic brachydactyly' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pes') 'non-syndromic brachydactyly of toes' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pes' http://purl.obolibrary.org/obo/MONDO_0017451 non-syndromic brachydactyly of fingers 'non-syndromic brachydactyly of fingers' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002398 'non-syndromic brachydactyly of fingers' EquivalentTo 'non-syndromic brachydactyly' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002398) http://purl.obolibrary.org/obo/MONDO_0017468 congenital shoulder dislocation 'congenital shoulder dislocation' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017469 congenital elbow dislocation 'congenital elbow dislocation' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017470 congenital knee dislocation 'congenital knee dislocation' SubClassOf 'bearer_of' some 'congenital' http://www.orpha.net/ORDO/Orphanet_91088 Other metabolic disease 'Other metabolic disease' SubClassOf 'inborn errors of metabolism' 'Other metabolic disease' SubClassOf 'genetic disorder' 'Other metabolic disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0042487 uterine cervix carcinoma in situ 'uterine cervix carcinoma in situ' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://purl.obolibrary.org/obo/MONDO_0042484 disseminated sporotrichosis 'disseminated sporotrichosis' EquivalentTo 'sporotrichosis' and ('bearer_of' some 'disseminated') http://www.orpha.net/ORDO/Orphanet_183527 Genetic bone tumor 'Genetic bone tumor' SubClassOf 'bone disease' 'Genetic bone tumor' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0042493 gastric non-hodgkin lymphoma 'gastric non-hodgkin lymphoma' EquivalentTo 'non-Hodgkins lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.orpha.net/ORDO/Orphanet_183500 Genetic neurodegenerative disease 'Genetic neurodegenerative disease' SubClassOf 'inherited neurodegenerative disorder' 'Genetic neurodegenerative disease' SubClassOf 'neurodegenerative disease' http://www.orpha.net/ORDO/Orphanet_183509 Rare genetic headache 'Rare genetic headache' SubClassOf 'hereditary neurological disease' http://www.orpha.net/ORDO/Orphanet_183521 Rare genetic movement disorder 'Rare genetic movement disorder' SubClassOf 'hereditary neurological disease' 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 'bearer_of' some 'rare' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'disease has feature' some 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007958 familial medullary thyroid carcinoma 'familial medullary thyroid carcinoma' EquivalentTo 'medullary thyroid gland carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0032913 congenital heart defects, multiple types, 7 'congenital heart defects, multiple types, 7' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0032925 respiratory papillomatosis, juvenile recurrent, congenital 'respiratory papillomatosis, juvenile recurrent, congenital' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007989 congenital microcoria 'congenital microcoria' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007987 Kniest dysplasia 'Kniest dysplasia' SubClassOf 'disease has feature' some 'collagenopathy' http://purl.obolibrary.org/obo/UBERON_0011242 ethmoid cartilage 'ethmoid cartilage' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002517 http://purl.obolibrary.org/obo/MONDO_0017306 disorder of phenylalanine metabolism 'disorder of phenylalanine metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism 'disorder of tyrosine metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017309 neonatal Marfan syndrome 'neonatal Marfan syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017301 pericardial and diaphragmatic defect 'pericardial and diaphragmatic defect' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017317 phakomatosis pigmentokeratotica 'phakomatosis pigmentokeratotica' SubClassOf 'neurocutaneous syndrome' 'phakomatosis pigmentokeratotica' SubClassOf 'bearer_of' some 'rare' 'phakomatosis pigmentokeratotica' SubClassOf 'neurocutaneous syndrome' http://purl.obolibrary.org/obo/MONDO_0017318 phakomatosis pigmentovascularis 'phakomatosis pigmentovascularis' SubClassOf 'bearer_of' some 'rare' 'phakomatosis pigmentovascularis' SubClassOf 'neurocutaneous syndrome' 'phakomatosis pigmentovascularis' SubClassOf 'neurocutaneous syndrome' http://purl.obolibrary.org/obo/HP_0001258 Spastic paraplegia 'Spastic paraplegia' SubClassOf http://purl.obolibrary.org/obo/HP_0010550 http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017329 familial vesicoureteral reflux 'familial vesicoureteral reflux' SubClassOf 'bearer_of' some 'rare' 'familial vesicoureteral reflux' EquivalentTo 'vesicoureteral reflux' and ('bearer_of' some 'inherited') 'familial vesicoureteral reflux' SubClassOf 'inherited kidney disorder' 'familial vesicoureteral reflux' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0001266 Choreoathetosis 'Choreoathetosis' SubClassOf http://purl.obolibrary.org/obo/HP_0002072 http://purl.obolibrary.org/obo/MONDO_0017323 hypocalcemic rickets 'hypocalcemic rickets' SubClassOf 'rickets' 'hypocalcemic rickets' SubClassOf 'rickets' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor 'virus associated tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017355 inborn disorder of proline metabolism 'inborn disorder of proline metabolism' SubClassOf 'amino acid metabolism disease' 'inborn disorder of proline metabolism' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017356 inborn disorder of ornithine metabolism 'inborn disorder of ornithine metabolism' SubClassOf 'amino acid metabolism disease' 'inborn disorder of ornithine metabolism' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017350 inborn disorder of tryptophan metabolism 'inborn disorder of tryptophan metabolism' SubClassOf 'amino acid metabolism disease' 'inborn disorder of tryptophan metabolism' SubClassOf 'inborn disorder of amino 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' EquivalentTo 'inborn disorder of amino acid and other organic acid metabolism' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006541) 'disorder of glutamine metabolism' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006541 http://purl.obolibrary.org/obo/MONDO_0017366 hereditary pheochromocytoma-paraganglioma 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'disease has feature' some 'premature menopause' 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017375 congenital enterovirus infection 'congenital enterovirus infection' SubClassOf 'bearer_of' some 'congenital' 'congenital enterovirus infection' EquivalentTo 'Enterovirus infectious disease' and ('bearer_of' some 'congenital') http://purl.obolibrary.org/obo/MONDO_0017391 Grayson-Wilbrandt corneal dystrophy 'Grayson-Wilbrandt corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004370 http://purl.obolibrary.org/obo/MONDO_0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some http://purl.obolibrary.org/obo/CHEBI_59560 http://purl.obolibrary.org/obo/UBERON_0001905 pineal body 'pineal body' SubClassOf 'endocrine gland' 'pineal body' SubClassOf http://purl.obolibrary.org/obo/UBERON_0010133 http://purl.obolibrary.org/obo/MONDO_0017396 toxic dermatosis 'toxic dermatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0001911 mammary gland 'mammary gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_2005010 mid cerebral vein 'mid cerebral vein' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 http://purl.obolibrary.org/obo/UBERON_2005017 primordial midbrain channel 'primordial midbrain channel' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 http://purl.obolibrary.org/obo/UBERON_0001989 superior cervical ganglion 'superior cervical ganglion' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002410 http://purl.obolibrary.org/obo/UBERON_0001985 corneal endothelium 'corneal endothelium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000019 'corneal endothelium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000020 http://purl.obolibrary.org/obo/UBERON_0001986 endothelium 'endothelium' SubClassOf 'epithelium' 'endothelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006914 http://purl.obolibrary.org/obo/UBERON_0001997 olfactory epithelium 'olfactory epithelium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001557 'olfactory epithelium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001826 'olfactory epithelium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000020 http://purl.obolibrary.org/obo/UBERON_2005093 nasal vein 'nasal vein' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 http://purl.obolibrary.org/obo/UBERON_0001976 epithelium of esophagus 'epithelium of esophagus' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/HP_0025501 Class III obesity 'Class III obesity' SubClassOf 'Increased body weight' 'Class III obesity' SubClassOf http://purl.obolibrary.org/obo/HP_0001513 http://purl.obolibrary.org/obo/UBERON_0011146 silk gland 'silk gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/MONDO_0007808 ichthyosis hystrix of Curth-Macklin 'ichthyosis hystrix of Curth-Macklin' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0056804 benign neoplasm of peripheral nervous system 'benign neoplasm of peripheral nervous system' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peripheral nervous system') http://purl.obolibrary.org/obo/MONDO_0056802 synovial bursa disorder 'synovial bursa disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003668) 'synovial bursa disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003668 http://purl.obolibrary.org/obo/MONDO_0007871 familial congenital nasolacrimal duct obstruction 'familial congenital nasolacrimal duct obstruction' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0056815 liver adenosquamous carcinoma 'liver adenosquamous carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://purl.obolibrary.org/obo/MONDO_0007885 Legg-Calve-Perthes disease 'Legg-Calve-Perthes disease' SubClassOf 'disease has feature' some 'osteonecrosis' http://purl.obolibrary.org/obo/MONDO_0007880 congenital laryngeal web 'congenital laryngeal web' SubClassOf 'bearer_of' some 'congenital' 'congenital laryngeal web' SubClassOf 'syndromic disease' 'congenital laryngeal web' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007893 Noonan syndrome with multiple lentigines 'Noonan syndrome with multiple lentigines' SubClassOf 'disease has feature' some 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia 'vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some http://purl.obolibrary.org/obo/CHEBI_30411 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some http://purl.obolibrary.org/obo/CHEBI_30411) http://purl.obolibrary.org/obo/MONDO_0017238 hemoglobinopathy Toms River 'hemoglobinopathy Toms River' SubClassOf 'cyanosis, transient neonatal' 'hemoglobinopathy Toms River' SubClassOf 'cyanosis, transient neonatal' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017235 familial omphalocele syndrome with facial dysmorphism 'familial omphalocele syndrome with facial dysmorphism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0011189 lamina propria of large intestine 'lamina propria of large intestine' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001207 'lamina propria of large intestine' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004786 http://purl.obolibrary.org/obo/MONDO_0017258 idiopathic panuveitis 'idiopathic panuveitis' EquivalentTo 'panuveitis' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0017256 idiopathic anterior uveitis 'idiopathic anterior uveitis' EquivalentTo 'anterior uveitis' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis 'autosomal recessive congenital ichthyosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017264 syndromic recessive X-linked ichthyosis 'syndromic recessive X-linked ichthyosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017290 familial intrahepatic cholestasis 'familial intrahepatic cholestasis' EquivalentTo 'intrahepatic cholestasis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0042233 disseminated candidiasis 'disseminated candidiasis' EquivalentTo 'candidiasis' and ('bearer_of' some 'disseminated') http://purl.obolibrary.org/obo/UBERON_0001817 lacrimal gland 'lacrimal gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004088 'lacrimal gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0035639 'lacrimal gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 'lacrimal gland' EquivalentTo 'gland' and ('part of' some http://purl.obolibrary.org/obo/UBERON_0001750) 'lacrimal gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001750 http://www.orpha.net/ORDO/Orphanet_183734 Genetic gynecological tumor 'Genetic gynecological tumor' SubClassOf 'female reproductive system disease' 'Genetic gynecological tumor' SubClassOf 'female reproductive system neoplasm' http://purl.obolibrary.org/obo/UBERON_0001820 sweat gland 'sweat gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_0001831 parotid gland 'parotid gland' SubClassOf 'saliva-secreting gland' 'parotid gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001829 'parotid gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/MONDO_0007904 median nodule of the upper lip 'median nodule of the upper lip' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007902 lichen planus, familial 'lichen planus, familial' EquivalentTo 'lichen planus' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007900 nonsyndromic congenital nail disorder 3 'nonsyndromic congenital nail disorder 3' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007909 familial multiple lipomatosis 'familial multiple lipomatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007906 familial partial lipodystrophy, Dunnigan type 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007711 Bencze syndrome 'Bencze syndrome' SubClassOf 'syndromic disease' 'Bencze syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_0001673 central retinal vein 'central retinal vein' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000019 'central retinal vein' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 http://purl.obolibrary.org/obo/MONDO_0007739 Huntington disease 'Huntington disease' SubClassOf 'disease has feature' some 'dementia' 'Huntington disease' SubClassOf 'Huntington disease and related disorders' 'Huntington disease' SubClassOf 'bearer_of' some 'rare' 'Huntington disease' SubClassOf 'Huntington disease and related disorders' http://www.orpha.net/ORDO/Orphanet_91132 Ichthyosis-hypotrichosis syndrome 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'hereditary skin disorder' 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0007741 congenital hydronephrosis 'congenital hydronephrosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/UBERON_0011004 pharyngeal arch cartilage 'pharyngeal arch cartilage' SubClassOf 'skeleton structure' 'pharyngeal arch cartilage' SubClassOf 'part of' some 'skeletal system' 'pharyngeal arch cartilage' SubClassOf 'part of' some 'anatomical system' 'pharyngeal arch cartilage' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007844 http://purl.obolibrary.org/obo/UBERON_0001690 ear 'ear' SubClassOf 'anatomical structure' 'ear' SubClassOf 'part of' some 'anatomical system' 'ear' SubClassOf 'part of' some 'sensory system' 'ear' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000020 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/HP_0001495 Carpal osteolysis 'Carpal osteolysis' SubClassOf 'Abnormal bone structure' 'Carpal osteolysis' SubClassOf http://purl.obolibrary.org/obo/HP_0002797 http://purl.obolibrary.org/obo/MONDO_0007766 Morgagni-Stewart-Morel syndrome 'Morgagni-Stewart-Morel syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007776 hypersensitivity pneumonitis, familial 'hypersensitivity pneumonitis, familial' EquivalentTo 'hypersensitivity pneumonitis' and ('bearer_of' some 'inherited') http://www.orpha.net/ORDO/Orphanet_183595 Genetic renal tumor 'Genetic renal tumor' SubClassOf 'urinary system disease' 'Genetic renal tumor' SubClassOf 'urinary system neoplasm' 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_0007784 selective pituitary resistance to thyroid hormone 'selective pituitary resistance to thyroid hormone' SubClassOf 'bearer_of' some 'rare' 'selective pituitary resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' 'selective pituitary resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic 'essential hypertension, genetic' EquivalentTo 'essential hypertension' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007795 mullerian duct anomalies-limb anomalies syndrome 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_183586 Genetic glomerular disease 'Genetic glomerular disease' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension 'heritable pulmonary arterial hypertension' EquivalentTo 'pulmonary arterial hypertension' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017160 behavioral variant of frontotemporal dementia 'behavioral variant of frontotemporal dementia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017161 frontotemporal dementia with motor neuron disease 'frontotemporal dementia with motor neuron disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 'congenital hypotonia, epilepsy, developmental delay, and digital anomalies' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017181 hypnic headache 'hypnic headache' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017182 familial hyperinsulinism 'familial hyperinsulinism' EquivalentTo 'hyperinsulinism' and ('bearer_of' some 'inherited') http://www.orpha.net/ORDO/Orphanet_183625 Rare genetic diabetes mellitus 'Rare genetic diabetes mellitus' SubClassOf 'monogenic diabetes' 'Rare genetic diabetes mellitus' SubClassOf 'diabetes mellitus' 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 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_183619 Genetic eye tumor 'Genetic eye tumor' SubClassOf 'eye disease' 'Genetic eye tumor' SubClassOf 'eye neoplasm' http://www.orpha.net/ORDO/Orphanet_217454 Rare hereditary thrombophilia 'Rare hereditary thrombophilia' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0056799 synovium disorder 'synovium disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007616) 'synovium disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007616 http://purl.obolibrary.org/obo/UBERON_0001744 lymphoid tissue 'lymphoid tissue' SubClassOf 'part of' some 'multicellular organism' 'lymphoid tissue' SubClassOf 'anatomical structure' 'lymphoid tissue' SubClassOf http://purl.obolibrary.org/obo/UBERON_0034769 http://purl.obolibrary.org/obo/UBERON_0001759 vagus nerve 'vagus nerve' SubClassOf 'nerve' 'vagus nerve' SubClassOf 'part of' some 'nervous system' 'vagus nerve' SubClassOf 'part of' some 'head' 'vagus nerve' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001785 http://purl.obolibrary.org/obo/UBERON_0001769 iris 'iris' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0011892 http://purl.obolibrary.org/obo/UBERON_0001772 corneal epithelium 'corneal epithelium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000020 'corneal epithelium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000019 http://purl.obolibrary.org/obo/UBERON_0001711 eyelid 'eyelid' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000019 http://purl.obolibrary.org/obo/UBERON_0001728 nasopharynx 'nasopharynx' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001557 http://purl.obolibrary.org/obo/UBERON_0001723 tongue 'tongue' SubClassOf 'part of' some 'sensory system' 'tongue' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000020 http://purl.obolibrary.org/obo/UBERON_0001736 submandibular gland 'submandibular gland' SubClassOf 'saliva-secreting gland' 'submandibular gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001829 http://purl.obolibrary.org/obo/UBERON_0001732 pharyngeal tonsil 'pharyngeal tonsil' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/HP_0001770 Toe syndactyly 'Toe syndactyly' SubClassOf http://purl.obolibrary.org/obo/HP_0001159 http://www.orpha.net/ORDO/Orphanet_71862 Retinal dystrophy 'Retinal dystrophy' SubClassOf 'Genetic vitreous-retinal disease' 'Retinal dystrophy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0001730 Progressive hearing impairment 'Progressive hearing impairment' SubClassOf 'Hearing abnormality' 'Progressive hearing impairment' SubClassOf http://purl.obolibrary.org/obo/HP_0000365 http://purl.obolibrary.org/obo/MONDO_0007606 fibrodysplasia ossificans progressiva 'fibrodysplasia ossificans progressiva' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007612 gingival fibromatosis-progressive deafness syndrome 'gingival fibromatosis-progressive deafness syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003900 ciliopathy 'ciliopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'cilium' 'ciliopathy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some 'cilium') http://www.ebi.ac.uk/efo/EFO_0003902 spinal fracture 'spinal fracture' SubClassOf 'vertebral column disorder' 'spinal fracture' EquivalentTo 'bone fracture' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001130) http://purl.obolibrary.org/obo/MONDO_0007626 familial congenital palsy of trochlear nerve 'familial congenital palsy of trochlear nerve' EquivalentTo 'fourth cranial nerve palsy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome 'Frasier syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003921 pouchitis 'pouchitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'ileum' http://www.ebi.ac.uk/efo/EFO_0003922 menopause 'menopause' SubClassOf 'sign or symptom' 'menopause' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma 'hereditary diffuse gastric adenocarcinoma' EquivalentTo 'diffuse gastric adenocarcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007642 isolated agenesis of gallbladder 'isolated agenesis of gallbladder' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003911 atrial flutter 'atrial flutter' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'cardiac atrium' http://www.ebi.ac.uk/efo/EFO_0003943 humerus fracture 'humerus fracture' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'humerus' http://www.ebi.ac.uk/efo/EFO_0003944 tibia fracture 'tibia fracture' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'tibia' 'tibia fracture' EquivalentTo 'bone fracture' and (http://purl.obolibrary.org/obo/RO_0004026 some 'tibia') http://purl.obolibrary.org/obo/MONDO_0007666 glaucoma-sleep apnea syndrome 'glaucoma-sleep apnea syndrome' SubClassOf 'syndromic disease' 'glaucoma-sleep apnea syndrome' SubClassOf 'syndromic disease' 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 http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003343 http://purl.obolibrary.org/obo/MONDO_0007679 GMS syndrome 'GMS syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003966 eye disease 'eye disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyeball of camera-type eye') 'eye disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000019 'eye disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'eyeball of camera-type eye' http://www.ebi.ac.uk/efo/EFO_0003964 hip fracture 'hip fracture' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'femur' http://www.ebi.ac.uk/efo/EFO_0003968 angiosarcoma 'angiosarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'blood vessel') http://purl.obolibrary.org/obo/HP_0011141 Age-related cataract 'Age-related cataract' SubClassOf 'Abnormal lens morphology' 'Age-related cataract' SubClassOf http://purl.obolibrary.org/obo/HP_0000518 http://www.ebi.ac.uk/efo/EFO_0003950 ulna fracture 'ulna fracture' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001424 'ulna fracture' EquivalentTo 'bone fracture' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001424) http://purl.obolibrary.org/obo/MONDO_0007680 multinodular goiter-cystic kidney-polydactyly syndrome 'multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007690 aromatase excess syndrome 'aromatase excess syndrome' SubClassOf 'disease has feature' some 'peripheral precocious puberty' http://purl.obolibrary.org/obo/MONDO_0007696 Emery-Nelson syndrome 'Emery-Nelson syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003880 appendiceal neoplasm 'appendiceal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') http://purl.obolibrary.org/obo/MONDO_0017050 intraocular medulloepithelioma 'intraocular medulloepithelioma' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003870 brain aneurysm 'brain aneurysm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brain blood vessel' http://www.ebi.ac.uk/efo/EFO_0003873 parotid neoplasm 'parotid neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parotid gland') http://www.ebi.ac.uk/efo/EFO_0003871 tongue neoplasm 'tongue neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'tongue') http://www.ebi.ac.uk/efo/EFO_0003872 colitis 'colitis' SubClassOf 'disease has inflammation site' some 'colon' 'colitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'colon') http://www.ebi.ac.uk/efo/EFO_0003878 urethritis 'urethritis' SubClassOf 'disease has inflammation site' some 'urethra' 'urethritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'urethra') http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma 'congenital mesoblastic nephroma' SubClassOf 'bearer_of' some 'congenital' 'congenital mesoblastic nephroma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities 'neurodevelopmental disorder and language delay with or without structural brain abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957553 http://purl.obolibrary.org/obo/MONDO_0017054 thiamine-responsive maple syrup urine disease 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some http://purl.obolibrary.org/obo/CHEBI_26948) 'thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some http://purl.obolibrary.org/obo/CHEBI_26948 http://www.ebi.ac.uk/efo/EFO_0003891 biliary tract neoplasm 'biliary tract neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001173) http://www.ebi.ac.uk/efo/EFO_0003893 ovarian neoplasm 'ovarian neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_0003897 stomach neoplasm 'stomach neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://www.ebi.ac.uk/efo/EFO_0003898 ankylosing spondylitis 'ankylosing spondylitis' SubClassOf 'spondylitis' 'ankylosing spondylitis' SubClassOf 'spondylitis' 'ankylosing spondylitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001468 http://purl.obolibrary.org/obo/MONDO_0017079 meningoencephalocele 'meningoencephalocele' EquivalentTo 'cephalocele' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003547) 'meningoencephalocele' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003547 http://purl.obolibrary.org/obo/MONDO_0017094 cerebral cortical dysplasia 'cerebral cortical dysplasia' SubClassOf 'disease has feature' some 'structural epilepsy' http://purl.obolibrary.org/obo/MONDO_0017089 isolated megalencephaly 'isolated megalencephaly' EquivalentTo 'megalencephaly' and ('bearer_of' some 'has an isolated presentation') 'isolated megalencephaly' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated megalencephaly' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0001662 Bradycardia 'Bradycardia' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'Bradycardia' SubClassOf http://purl.obolibrary.org/obo/HP_0011675 http://purl.obolibrary.org/obo/MONDO_0007507 absence of fingerprints-congenital milia syndrome 'absence of fingerprints-congenital milia syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007526 Ehlers-Danlos syndrome, spondylodysplastic type 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'bearer_of' some 'rare' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007536 congenital lobar emphysema 'congenital lobar emphysema' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003820 bone neoplasm 'bone neoplasm' SubClassOf 'bearer_of' some 'rare' 'bone neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002481) http://www.ebi.ac.uk/efo/EFO_0003827 pulmonary embolism 'pulmonary embolism' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pulmonary artery' http://www.ebi.ac.uk/efo/EFO_0003824 eye neoplasm 'eye neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyeball of camera-type eye') http://www.ebi.ac.uk/efo/EFO_0003828 spinal cord neoplasm 'spinal cord neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spinal cord') http://www.ebi.ac.uk/efo/EFO_0003811 refractory anemia with excess blasts 'refractory anemia with excess blasts' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0003812 refractory anemia with ringed sideroblasts 'refractory anemia with ringed sideroblasts' SubClassOf 'inherited sideroblastic anemia' http://www.ebi.ac.uk/efo/EFO_0003817 laryngeal neoplasm 'laryngeal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'larynx') http://www.ebi.ac.uk/efo/EFO_0003818 lung disease 'lung disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'lung' 'lung disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_0003841 thyroid neoplasm 'thyroid neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') http://www.ebi.ac.uk/efo/EFO_0003844 ureteral neoplasm 'ureteral neoplasm' SubClassOf 'kidney disease' 'ureteral neoplasm' SubClassOf 'kidney neoplasm' 'ureteral neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ureter') http://www.ebi.ac.uk/efo/EFO_0003849 palatal neoplasm 'palatal neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001716 'palatal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001716) http://www.ebi.ac.uk/efo/EFO_0003846 urethral neoplasm 'urethral neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urethra') http://purl.obolibrary.org/obo/MONDO_0007566 multiple self-healing squamous epithelioma 'multiple self-healing squamous epithelioma' SubClassOf 'disease has feature' some 'keratoacanthoma' 'multiple self-healing squamous epithelioma' SubClassOf 'disease has feature' some 'benign tumor of palpebral epidermis' http://www.ebi.ac.uk/efo/EFO_0003830 prostatitis 'prostatitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'prostate gland') 'prostatitis' SubClassOf 'disease has inflammation site' some 'prostate gland' http://www.ebi.ac.uk/efo/EFO_0003833 brain neoplasm 'brain neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://www.ebi.ac.uk/efo/EFO_0003832 gallbladder disease 'gallbladder disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder' 'gallbladder disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') http://www.ebi.ac.uk/efo/EFO_0003835 anal neoplasm 'anal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245) http://www.ebi.ac.uk/efo/EFO_0003839 retinopathy 'retinopathy' EquivalentTo 'eye disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'retina') 'retinopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'retina' http://purl.obolibrary.org/obo/MONDO_0007576 esophageal cancer 'esophageal cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://www.ebi.ac.uk/efo/EFO_0003860 pancreatic neoplasm 'pancreatic neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas') http://www.ebi.ac.uk/efo/EFO_0003866 paranasal sinus neoplasm 'paranasal sinus neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001825) http://www.ebi.ac.uk/efo/EFO_0003865 kidney neoplasm 'kidney neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://www.ebi.ac.uk/efo/EFO_0003868 mouth neoplasm 'mouth neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000167 'mouth neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000167) http://www.ebi.ac.uk/efo/EFO_0003869 breast neoplasm 'breast neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://www.ebi.ac.uk/efo/EFO_0003851 meningeal neoplasm 'meningeal neoplasm' SubClassOf 'bearer_of' some 'rare' 'meningeal neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'meningeal cluster' 'meningeal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'meningeal cluster') http://www.ebi.ac.uk/efo/EFO_0003850 adrenal gland neoplasm 'adrenal gland neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002369) http://www.ebi.ac.uk/efo/EFO_0003853 respiratory system neoplasm 'respiratory system neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'respiratory tract' 'respiratory system neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'respiratory tract') http://www.ebi.ac.uk/efo/EFO_0003859 uterine neoplasm 'uterine neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterus') http://www.ebi.ac.uk/efo/EFO_0003857 arthrogryposis 'arthrogryposis' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_0003763 cerebrovascular disorder 'cerebrovascular disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'vasculature of brain' http://www.ebi.ac.uk/efo/EFO_0003769 endocrine neoplasm 'endocrine neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine gland') 'endocrine neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine gland' http://www.orpha.net/ORDO/Orphanet_217638 Lysosomal disease with restrictive cardiomyopathy 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Lysosomal disease with restrictive cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_0003781 carotid artery disease 'carotid artery disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'carotid artery segment') 'carotid artery disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'carotid artery segment' http://www.ebi.ac.uk/efo/EFO_0003782 motor neuron disease 'motor neuron disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'motor neuron' 'motor neuron disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'motor neuron') http://www.ebi.ac.uk/efo/EFO_0003780 Behcet's syndrome 'Behcet's syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'blood vessel' 'Behcet's syndrome' SubClassOf 'neurovascular disorder' http://www.ebi.ac.uk/efo/EFO_0003783 progressive bulbar palsy 'progressive bulbar palsy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brainstem' http://www.ebi.ac.uk/efo/EFO_0003778 psoriatic arthritis 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0002960) and ('disease has major feature' some 'psoriasis') http://www.ebi.ac.uk/efo/EFO_0003777 heart disease 'heart disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0015410) 'heart disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0015410 http://purl.obolibrary.org/obo/MONDO_0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP 'intellectual developmental disorder and retinitis pigmentosa; IDDRP' SubClassOf 'disease has feature' some 'retinitis pigmentosa' http://www.orpha.net/ORDO/Orphanet_217610 Neuromuscular disease with dilated cardiomyopathy 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Neuromuscular disease with dilated cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217613 Mitochondrial disease with dilated cardiomyopathy 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Mitochondrial disease with dilated cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217619 Syndrome associated with dilated cardiomyopathy 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Syndrome associated with dilated cardiomyopathy' SubClassOf 'cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'familial cardiomyopathy' 'Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/GO_0015939 pantothenate metabolic process 'pantothenate metabolic process' SubClassOf 'cellular metabolic process' 'pantothenate metabolic process' SubClassOf http://purl.obolibrary.org/obo/GO_0006082 http://purl.obolibrary.org/obo/MONDO_0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome 'cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007403 inherited Creutzfeldt-Jakob disease 'inherited Creutzfeldt-Jakob disease' EquivalentTo 'Creutzfeldt Jacob Disease' and ('bearer_of' some 'inherited') 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007414 Gorham-Stout disease 'Gorham-Stout disease' SubClassOf 'bearer_of' some 'rare' 'Gorham-Stout disease' SubClassOf 'musculoskeletal system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0007410 isolated cryptophthalmia 'isolated cryptophthalmia' EquivalentTo 'cryptophthalmia' and ('bearer_of' some 'has an isolated presentation') 'isolated cryptophthalmia' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0007428 deafness-craniofacial syndrome 'deafness-craniofacial syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007450 neurohypophyseal diabetes insipidus 'neurohypophyseal diabetes insipidus' EquivalentTo 'diabetes insipidus' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') http://purl.obolibrary.org/obo/MONDO_0007461 short stature-valvular heart disease-characteristic facies syndrome 'short stature-valvular heart disease-characteristic facies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007473 Duane retraction syndrome 'Duane retraction syndrome' SubClassOf 'syndromic disease' 'Duane retraction syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007482 dyschondrosteosis-nephritis syndrome 'dyschondrosteosis-nephritis syndrome' SubClassOf 'syndromic disease' 'dyschondrosteosis-nephritis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007483 dyschromatosis symmetrica hereditaria 'dyschromatosis symmetrica hereditaria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700261 http://purl.obolibrary.org/obo/MONDO_0007495 dystonia 5 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some http://purl.obolibrary.org/obo/CHEBI_15765 http://purl.obolibrary.org/obo/UBERON_0011607 hyomandibular cartilage 'hyomandibular cartilage' SubClassOf 'part of' some 'anatomical system' 'hyomandibular cartilage' SubClassOf 'part of' some 'skeletal system' http://purl.obolibrary.org/obo/HP_0001942 Metabolic acidosis 'Metabolic acidosis' SubClassOf 'Abnormality of metabolism/homeostasis' 'Metabolic acidosis' SubClassOf http://purl.obolibrary.org/obo/HP_0001941 http://purl.obolibrary.org/obo/HP_0001956 Truncal obesity 'Truncal obesity' SubClassOf 'Increased body weight' 'Truncal obesity' SubClassOf http://purl.obolibrary.org/obo/HP_0001513 http://purl.obolibrary.org/obo/HP_0001962 Palpitations 'Palpitations' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'Palpitations' SubClassOf http://purl.obolibrary.org/obo/HP_0011675 http://purl.obolibrary.org/obo/UBERON_0011634 ectopterygoid bone 'ectopterygoid bone' SubClassOf 'bone element' 'ectopterygoid bone' SubClassOf 'part of' some 'skeletal system' 'ectopterygoid bone' SubClassOf 'part of' some 'digestive system' 'ectopterygoid bone' SubClassOf 'part of' some 'anatomical system' 'ectopterygoid bone' SubClassOf http://purl.obolibrary.org/obo/UBERON_0011597 'ectopterygoid bone' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 http://purl.obolibrary.org/obo/HP_0001891 Iron deficiency anemia 'Iron deficiency anemia' SubClassOf 'Anemia of inadequate production' 'Iron deficiency anemia' SubClassOf http://purl.obolibrary.org/obo/HP_0001931 http://www.orpha.net/ORDO/Orphanet_276267 Xeroderma pigmentosum complementation group G 'Xeroderma pigmentosum complementation group G' SubClassOf 'Retinal dystrophy' 'Xeroderma pigmentosum complementation group G' SubClassOf 'eye degenerative disorder' 'Xeroderma pigmentosum complementation group G' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_276264 Xeroderma pigmentosum complementation group F 'Xeroderma pigmentosum complementation group F' SubClassOf 'Retinal dystrophy' 'Xeroderma pigmentosum complementation group F' SubClassOf 'Genetic vitreous-retinal disease' 'Xeroderma pigmentosum complementation group F' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/HP_0011229 Broad eyebrow 'Broad eyebrow' SubClassOf 'Abnormality of the face' 'Broad eyebrow' SubClassOf 'Abnormality of the integument' 'Broad eyebrow' SubClassOf http://purl.obolibrary.org/obo/HP_0000534 http://www.orpha.net/ORDO/Orphanet_276258 Xeroderma pigmentosum complementation group D 'Xeroderma pigmentosum complementation group D' SubClassOf 'Retinal dystrophy' 'Xeroderma pigmentosum complementation group D' SubClassOf 'Genetic vitreous-retinal disease' 'Xeroderma pigmentosum complementation group D' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_276252 Xeroderma pigmentosum complementation group B 'Xeroderma pigmentosum complementation group B' SubClassOf 'Retinal dystrophy' 'Xeroderma pigmentosum complementation group B' SubClassOf 'eye degenerative disorder' 'Xeroderma pigmentosum complementation group B' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome 'Alagille syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007329 cirrhosis, familial 'cirrhosis, familial' EquivalentTo 'cirrhosis of liver' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007321 autosomal dominant chondrodysplasia punctata 'autosomal dominant chondrodysplasia punctata' SubClassOf 'syndromic disease' 'autosomal dominant chondrodysplasia punctata' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007336 isolated cleft palate 'isolated cleft palate' EquivalentTo 'cleft palate' and ('bearer_of' some 'has an isolated presentation') 'isolated cleft palate' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0007330 congenital pseudoarthrosis of clavicle 'congenital pseudoarthrosis of clavicle' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0022963 desmoplastic infantile astrocytoma 'desmoplastic infantile astrocytoma' SubClassOf 'disease has feature' some 'hypotropia' http://purl.obolibrary.org/obo/MONDO_0022965 desmoplastic infantile ganglioglioma 'desmoplastic infantile ganglioglioma' SubClassOf 'disease has feature' some 'hypotropia' http://www.orpha.net/ORDO/Orphanet_168486 Congenital neuronal ceroid lipofuscinosis 'Congenital neuronal ceroid lipofuscinosis' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0007395 craniofacial-deafness-hand syndrome 'craniofacial-deafness-hand syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0011579 venom gland 'venom gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/HP_0001830 Postaxial foot polydactyly 'Postaxial foot polydactyly' SubClassOf http://purl.obolibrary.org/obo/HP_0010442 http://purl.obolibrary.org/obo/MONDO_0003686 apocrine sweat gland neoplasm 'apocrine sweat gland neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'apocrine sweat gland') http://purl.obolibrary.org/obo/MONDO_0003680 periosteal chondrosarcoma 'periosteal chondrosarcoma' EquivalentTo 'chondrosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002515) 'periosteal chondrosarcoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002515 http://purl.obolibrary.org/obo/MONDO_0013003 isolated congenital hypoglossia/aglossia 'isolated congenital hypoglossia/aglossia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0013038 CLOVES syndrome 'CLOVES syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013050 lethal polymalformative syndrome, Boissel type 'lethal polymalformative syndrome, Boissel type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013074 encephalocraniocutaneous lipomatosis 'encephalocraniocutaneous lipomatosis' SubClassOf 'bearer_of' some 'rare' 'encephalocraniocutaneous lipomatosis' SubClassOf 'benign neoplasm of skin' http://purl.obolibrary.org/obo/MONDO_0013082 Hirschsprung disease-ganglioneuroblastoma syndrome 'Hirschsprung disease-ganglioneuroblastoma syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013099 combined pituitary hormone deficiencies, genetic form 'combined pituitary hormone deficiencies, genetic form' EquivalentTo 'hypopituitarism' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0010996 articular cartilage of joint 'articular cartilage of joint' SubClassOf 'connective tissue' 'articular cartilage of joint' SubClassOf 'part of' some 'musculoskeletal system' 'articular cartilage of joint' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001994 http://www.orpha.net/ORDO/Orphanet_52368 Mohr-Tranebjaerg syndrome 'Mohr-Tranebjaerg syndrome' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/UBERON_0009970 epithelium of pancreatic duct 'epithelium of pancreatic duct' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000058 'epithelium of pancreatic duct' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000017 http://purl.obolibrary.org/obo/MONDO_0003710 ovarian mixed germ cell neoplasm 'ovarian mixed germ cell neoplasm' EquivalentTo 'mixed germ cell tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0003719 renal pelvis neoplasm 'renal pelvis neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'renal pelvis' 'renal pelvis neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal pelvis') http://purl.obolibrary.org/obo/MONDO_0003766 thalamic cancer 'thalamic cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'dorsal plus ventral thalamus') http://purl.obolibrary.org/obo/MONDO_0003761 leptomeningeal melanoma 'leptomeningeal melanoma' EquivalentTo 'melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000391) http://purl.obolibrary.org/obo/MONDO_0003762 malignant leptomeningeal tumor 'malignant leptomeningeal tumor' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000391 'malignant leptomeningeal tumor' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000391) http://purl.obolibrary.org/obo/MONDO_0003789 hereditary papillary renal cell carcinoma 'hereditary papillary renal cell carcinoma' EquivalentTo 'papillary renal cell carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0003569 cranial nerve neuropathy 'cranial nerve neuropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0034713 'cranial nerve neuropathy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0034713) http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome 'hereditary breast ovarian cancer syndrome' SubClassOf 'disease has feature' some 'ovarian carcinoma' 'hereditary breast ovarian cancer syndrome' SubClassOf 'disease has feature' some 'female breast carcinoma' http://purl.obolibrary.org/obo/UBERON_0019189 carotid artery endothelium 'carotid artery endothelium' SubClassOf 'endothelium' 'carotid artery endothelium' SubClassOf 'part of' some 'blood vessel' 'carotid artery endothelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004638 http://purl.obolibrary.org/obo/MONDO_0003603 non-functioning pituitary gland neoplasm 'non-functioning pituitary gland neoplasm' EquivalentTo 'non-functioning endocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') http://purl.obolibrary.org/obo/MONDO_0003604 functioning pituitary gland neoplasm 'functioning pituitary gland neoplasm' EquivalentTo 'functioning endocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') http://purl.obolibrary.org/obo/MONDO_0003606 adrenal medulla cancer 'adrenal medulla cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal medulla') http://purl.obolibrary.org/obo/MONDO_0003607 neuritis of upper limb 'neuritis of upper limb' EquivalentTo 'neuritis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'forelimb') 'neuritis of upper limb' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'forelimb' http://purl.obolibrary.org/obo/MONDO_0003619 salpingitis 'salpingitis' SubClassOf 'disease has inflammation site' some 'fallopian tube' 'salpingitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0003624 acinic cell breast carcinoma 'acinic cell breast carcinoma' EquivalentTo 'breast carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'acinar cell') http://purl.obolibrary.org/obo/MONDO_0003632 endocervicitis 'endocervicitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000458 'endocervicitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000458) http://purl.obolibrary.org/obo/MONDO_0003641 central nervous system hematopoietic neoplasm 'central nervous system hematopoietic neoplasm' EquivalentTo 'hematopoietic and lymphoid system neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0003649 esophageal neuroendocrine tumor 'esophageal neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://purl.obolibrary.org/obo/MONDO_0003661 breast lymphoma 'breast lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://purl.obolibrary.org/obo/MONDO_0003443 papillary urothelial neoplasm 'papillary urothelial neoplasm' EquivalentTo 'papillary epithelial neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urothelium') http://www.ebi.ac.uk/efo/EFO_0004196 viral human hepatitis infection 'viral human hepatitis infection' SubClassOf 'disease has inflammation site' some 'liver' http://purl.obolibrary.org/obo/MONDO_0003454 conjunctival cancer 'conjunctival cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'conjunctiva') http://purl.obolibrary.org/obo/MONDO_0003455 bile duct papillary neoplasm 'bile duct papillary neoplasm' EquivalentTo 'papillary epithelial neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bile duct') http://www.ebi.ac.uk/efo/EFO_0004198 skin neoplasm 'skin neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://www.ebi.ac.uk/efo/EFO_0004191 androgenetic alopecia 'androgenetic alopecia' SubClassOf 'hereditary skin disorder' 'androgenetic alopecia' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0004192 alopecia areata 'alopecia areata' SubClassOf 'hereditary skin disorder' 'alopecia areata' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0003473 spinal cord ependymoma 'spinal cord ependymoma' EquivalentTo 'ependymoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spinal cord') http://purl.obolibrary.org/obo/MONDO_0003495 ovarian squamous cell neoplasm 'ovarian squamous cell neoplasm' EquivalentTo 'squamous cell neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.orpha.net/ORDO/Orphanet_306719 Neurodegenerative disease with chorea 'Neurodegenerative disease with chorea' SubClassOf 'inherited neurodegenerative disorder' 'Neurodegenerative disease with chorea' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/HP_0011736 Primary hyperaldosteronism 'Primary hyperaldosteronism' SubClassOf 'Abnormality of the adrenal glands' 'Primary hyperaldosteronism' SubClassOf http://purl.obolibrary.org/obo/HP_0002717 http://purl.obolibrary.org/obo/MONDO_0003500 squamous cell bile duct carcinoma 'squamous cell bile duct carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bile duct') http://purl.obolibrary.org/obo/MONDO_0003512 mediastinal mesenchymal tumor 'mediastinal mesenchymal tumor' EquivalentTo 'Soft Tissue Neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum') http://purl.obolibrary.org/obo/MONDO_0003510 malignant testicular germ cell tumor 'malignant testicular germ cell tumor' EquivalentTo 'cancer' and 'Malignant Germ Cell Tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') http://www.ebi.ac.uk/efo/EFO_0004126 Adie syndrome 'Adie syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004128 hereditary nephritis 'hereditary nephritis' EquivalentTo 'nephritis' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0004129 familial amyloid neuropathy 'familial amyloid neuropathy' SubClassOf 'acquired peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0004152 chorea 'chorea' SubClassOf 'bearer_of' some 'rare' 'chorea' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0002072 http://purl.obolibrary.org/obo/MONDO_0003546 third cranial nerve disorder 'third cranial nerve disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001643 'third cranial nerve disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001643) http://www.ebi.ac.uk/efo/EFO_0004145 myopathy 'myopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0043292 'myopathy' EquivalentTo 'muscle tissue disorder' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0043292) http://www.ebi.ac.uk/efo/EFO_0004142 colorectal neoplasm 'colorectal neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'colorectum' 'colorectal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colorectum') http://purl.obolibrary.org/obo/MONDO_0003544 spinal cord cancer 'spinal cord cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spinal cord') http://purl.obolibrary.org/obo/MONDO_0003540 acute T cell leukemia 'acute T cell leukemia' SubClassOf 'T-cell leukemia' 'acute T cell leukemia' SubClassOf 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0003549 adenosquamous bile duct carcinoma 'adenosquamous bile duct carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bile duct') http://purl.obolibrary.org/obo/MONDO_0017953 hereditary periodic fever syndrome 'hereditary periodic fever syndrome' EquivalentTo 'periodic fever syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor 'hereditary Wilms tumor' EquivalentTo 'Wilms tumor' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017967 testicular agenesis 'testicular agenesis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017979 autoimmune lymphoproliferative syndrome 'autoimmune lymphoproliferative syndrome' EquivalentTo 'lymphoproliferative syndrome' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0002960) 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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017975 sex chromosome disorder of sex development 'sex chromosome disorder of sex development' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0003349 central nervous system leiomyosarcoma 'central nervous system leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0003346 central nervous system vasculitis 'central nervous system vasculitis' EquivalentTo 'vasculitis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0017985 congenital radioulnar synostosis 'congenital radioulnar synostosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017980 syngnathia multiple anomalies 'syngnathia multiple anomalies' SubClassOf 'syndromic disease' 'syngnathia multiple anomalies' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0003354 heart sarcoma 'heart sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'heart') http://purl.obolibrary.org/obo/MONDO_0003353 heart leiomyosarcoma 'heart leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'heart') http://purl.obolibrary.org/obo/MONDO_0042966 inherited mitral valve disease 'inherited mitral valve disease' EquivalentTo 'mitral valve disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'autoinflammatory syndrome' 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0003363 malignant dermis tumor 'malignant dermis tumor' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'dermis') http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis 'familial osteosclerosis' EquivalentTo 'osteosclerosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0003376 mediastinum leiomyosarcoma 'mediastinum leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum') http://purl.obolibrary.org/obo/MONDO_0003393 thymus gland disorder 'thymus gland disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'thymus' http://purl.obolibrary.org/obo/HP_0045075 Sparse eyebrow 'Sparse eyebrow' SubClassOf 'Abnormality of the face' 'Sparse eyebrow' SubClassOf 'Abnormality of the integument' 'Sparse eyebrow' SubClassOf http://purl.obolibrary.org/obo/HP_0000534 http://purl.obolibrary.org/obo/MONDO_0042982 GATA2 deficiency with susceptibility to MDS/AML 'GATA2 deficiency with susceptibility to MDS/AML' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0045059 Hyperkeratotic papule 'Hyperkeratotic papule' SubClassOf 'Epidermal thickening' 'Hyperkeratotic papule' SubClassOf http://purl.obolibrary.org/obo/HP_0000962 http://purl.obolibrary.org/obo/MONDO_0003409 colonic disorder 'colonic disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') 'colonic disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'colon' http://purl.obolibrary.org/obo/MONDO_0003413 hair follicle neoplasm 'hair follicle neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hair follicle') 'hair follicle neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'hair follicle' http://purl.obolibrary.org/obo/MONDO_0003206 acquired hemangioma 'acquired hemangioma' SubClassOf 'bearer_of' some 'acquired' 'acquired hemangioma' EquivalentTo 'hemangioma' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0003200 urethra adenocarcinoma 'urethra adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urethra') http://purl.obolibrary.org/obo/MONDO_0017849 Siegler-Brewer-Carey syndrome 'Siegler-Brewer-Carey syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0003215 apocrine sweat gland cancer 'apocrine sweat gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'apocrine sweat gland') http://purl.obolibrary.org/obo/MONDO_0003212 nasal cavity carcinoma 'nasal cavity carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nasal cavity') http://purl.obolibrary.org/obo/MONDO_0003214 apocrine adenocarcinoma 'apocrine adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0008974) http://purl.obolibrary.org/obo/MONDO_0017853 hypersensitivity pneumonitis 'hypersensitivity pneumonitis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0003219 gastroesophageal junction adenocarcinoma 'gastroesophageal junction adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'esophagogastric junction' 'gastroesophageal junction adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagogastric junction') http://purl.obolibrary.org/obo/MONDO_0003222 central nervous system melanocytic neoplasm 'central nervous system melanocytic neoplasm' EquivalentTo 'melanocytic neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0003223 meninges hemangiopericytoma 'meninges hemangiopericytoma' SubClassOf 'neurovascular disorder' 'meninges hemangiopericytoma' EquivalentTo 'hemangiopericytoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'meningeal cluster') 'meninges hemangiopericytoma' SubClassOf 'vascular cancer' http://purl.obolibrary.org/obo/MONDO_0003225 bone marrow disorder 'bone marrow disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'bone marrow' 'bone marrow disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bone marrow') http://purl.obolibrary.org/obo/MONDO_0017868 diencephalic-mesencephalic junction dysplasia 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0003237 adenomyoma of uterine corpus 'adenomyoma of uterine corpus' EquivalentTo 'adenomyoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0003249 pineal gland cancer 'pineal gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pineal body') http://purl.obolibrary.org/obo/MONDO_0003241 central nervous system hemangioma 'central nervous system hemangioma' EquivalentTo 'hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0003257 posterior pituitary gland neoplasm 'posterior pituitary gland neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'neurohypophysis' 'posterior pituitary gland neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'neurohypophysis') http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma 'familial nonmedullary thyroid carcinoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017893 inherited acute myeloid leukemia 'inherited acute myeloid leukemia' EquivalentTo 'acute myeloid leukemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0003277 malignant ear neoplasm 'malignant ear neoplasm' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ear') http://purl.obolibrary.org/obo/MONDO_0003274 thoracic cancer 'thoracic cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thoracic segment of trunk') http://purl.obolibrary.org/obo/MONDO_0003275 middle ear cancer 'middle ear cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'middle ear') http://purl.obolibrary.org/obo/MONDO_0003276 middle ear disorder 'middle ear disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'middle ear' 'middle ear disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'middle ear') http://purl.obolibrary.org/obo/HP_0011913 Lumbar hypertrichosis 'Lumbar hypertrichosis' SubClassOf 'Abnormality of the integument' 'Lumbar hypertrichosis' SubClassOf http://purl.obolibrary.org/obo/HP_0000998 http://www.ebi.ac.uk/efo/EFO_0004354 circadian rhythm 'circadian rhythm' SubClassOf 'biological_process' 'circadian rhythm' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017904 steroid dehydrogenase deficiency-dental anomalies syndrome 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017919 exstrophy-epispadias complex 'exstrophy-epispadias complex' SubClassOf 'urogenital tract malformation' 'exstrophy-epispadias complex' SubClassOf 'urogenital tract malformation' 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 'bearer_of' some 'rare' 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 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004288 colonic neoplasm 'colonic neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0017735 congenital aortic valve stenosis 'congenital aortic valve stenosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017746 atypical Rett syndrome 'atypical Rett syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017748 inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'disorder of GPI anchor biosynthesis' 'inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'disorder of GPI anchor biosynthesis' http://purl.obolibrary.org/obo/MONDO_0003112 malignant gastric germ cell tumor 'malignant gastric germ cell tumor' EquivalentTo 'Malignant Germ Cell Tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://purl.obolibrary.org/obo/MONDO_0003110 skin hemangioma 'skin hemangioma' EquivalentTo 'hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0003111 gastric neuroendocrine neoplasm 'gastric neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://purl.obolibrary.org/obo/MONDO_0017755 inborn disorder of bilirubin metabolism 'inborn disorder of bilirubin metabolism' EquivalentTo 'bilirubin metabolism disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017750 defect in conserved oligomeric Golgi complex 'defect in conserved oligomeric Golgi complex' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0017119 'defect in conserved oligomeric Golgi complex' EquivalentTo 'disorder of multiple glycosylation' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0017119) http://purl.obolibrary.org/obo/MONDO_0003125 testicular sex cord-stromal neoplasm 'testicular sex cord-stromal neoplasm' EquivalentTo 'sex cord-stromal tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') http://purl.obolibrary.org/obo/MONDO_0017769 acquired immunodeficiency 'acquired immunodeficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017778 lamellar ichthyosis 'lamellar ichthyosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017773 hypoalphalipoproteinemia 'hypoalphalipoproteinemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017774 hypobetalipoproteinemia 'hypobetalipoproteinemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_4200173 dorsal ridge 'dorsal ridge' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004765 http://purl.obolibrary.org/obo/MONDO_0017770 Robinow-like syndrome 'Robinow-like syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0003142 intracranial primitive neuroectodermal tumor 'intracranial primitive neuroectodermal tumor' EquivalentTo 'primitive neuroectodermal tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://purl.obolibrary.org/obo/MONDO_0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome 'contractures - webbed neck - micrognathia - hypoplastic nipples syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency 'developmental and speech delay due to SOX5 deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017785 PENS syndrome 'PENS syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0003159 vascular hemostatic disease 'vascular hemostatic disease' EquivalentTo 'hemorrhagic disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/UBERON_0035965) 'vascular hemostatic disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/UBERON_0035965 http://purl.obolibrary.org/obo/MONDO_0017795 ameloblastoma 'ameloblastoma' SubClassOf 'bearer_of' some 'rare' 'ameloblastoma' SubClassOf 'benign digestive system 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 'disease has feature' some 'stomach polyp' 'gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'polyposis' 'gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'polyposis' http://purl.obolibrary.org/obo/MONDO_0003168 cerebellar pilocytic astrocytoma 'cerebellar pilocytic astrocytoma' EquivalentTo 'pilocytic astrocytoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebellum') http://purl.obolibrary.org/obo/MONDO_0003169 diencephalic astrocytomas 'diencephalic astrocytomas' EquivalentTo 'astrocytoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'diencephalon') http://purl.obolibrary.org/obo/MONDO_0003165 cerebellar astrocytoma 'cerebellar astrocytoma' EquivalentTo 'astrocytoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebellum') http://purl.obolibrary.org/obo/MONDO_0003175 salivary gland adenoid cystic carcinoma 'salivary gland adenoid cystic carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://purl.obolibrary.org/obo/MONDO_0003173 brain stem astrocytic neoplasm 'brain stem astrocytic neoplasm' EquivalentTo 'astrocytoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brainstem') http://purl.obolibrary.org/obo/MONDO_0003180 cutaneous adenocystic carcinoma 'cutaneous adenocystic carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'skin of body' 'cutaneous adenocystic carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'skin of body') http://purl.obolibrary.org/obo/MONDO_0003181 lung adenoid cystic carcinoma 'lung adenoid cystic carcinoma' EquivalentTo 'adenoid cystic carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0003182 anterior horn disorder 'anterior horn disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002257) 'anterior horn disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002257 http://purl.obolibrary.org/obo/MONDO_0003190 middle ear carcinoma 'middle ear carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'middle ear') http://purl.obolibrary.org/obo/MONDO_0003196 appendix carcinoma 'appendix carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') http://purl.obolibrary.org/obo/MONDO_0003199 anal carcinoma 'anal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245) http://purl.obolibrary.org/obo/MONDO_0003193 bile duct adenocarcinoma 'bile duct adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bile duct') http://purl.obolibrary.org/obo/MONDO_0003194 hemangioma of lung 'hemangioma of lung' EquivalentTo 'hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0003195 peritoneal serous adenocarcinoma 'peritoneal serous adenocarcinoma' EquivalentTo 'serous adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum') http://purl.obolibrary.org/obo/GO_0030728 ovulation 'ovulation' SubClassOf 'part of' some 'reproduction' 'ovulation' SubClassOf 'biological_process' 'ovulation' SubClassOf http://purl.obolibrary.org/obo/GO_0022414 http://www.ebi.ac.uk/efo/EFO_0004209 hypospadias 'hypospadias' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004232 eosinophilic esophagitis 'eosinophilic esophagitis' EquivalentTo 'eosinophilic gastrointestinal disease' and ('disease has inflammation site' some 'esophagus') http://www.ebi.ac.uk/efo/EFO_0004234 erectile dysfunction 'erectile dysfunction' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'penile erection' 'erectile dysfunction' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004024 some 'penile erection') http://www.ebi.ac.uk/efo/EFO_0004254 membranous glomerulonephritis 'membranous glomerulonephritis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005777 http://www.ebi.ac.uk/efo/EFO_0004252 nasopharyngeal neoplasm 'nasopharyngeal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nasopharynx') http://www.ebi.ac.uk/efo/EFO_0004259 osteonecrosis 'osteonecrosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004256 neuromyelitis optica 'neuromyelitis optica' SubClassOf 'bearer_of' some 'rare' 'neuromyelitis optica' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_0004244 interstitial lung disease 'interstitial lung disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0008946 http://www.ebi.ac.uk/efo/EFO_0004248 male infertility 'male infertility' EquivalentTo 'infertility' and (http://purl.obolibrary.org/obo/RO_0004026 some 'male reproductive system') 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 'inherited hypertrophic pyloric stenosis' http://www.ebi.ac.uk/efo/EFO_0004277 brain infarction 'brain infarction' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brain blood vessel' http://www.ebi.ac.uk/efo/EFO_0004274 gout 'gout' SubClassOf 'disease has feature' some 'hydrarthrosis' http://purl.obolibrary.org/obo/MONDO_0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency 'lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017814 primary bone lymphoma 'primary bone lymphoma' SubClassOf 'hereditary disorder of connective tissue' 'primary bone lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002481) http://purl.obolibrary.org/obo/MONDO_0017815 acquired porencephaly 'acquired porencephaly' EquivalentTo 'porencephaly' and ('bearer_of' some 'acquired') 'acquired porencephaly' SubClassOf 'bearer_of' some 'acquired' 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 'disease has major feature' some 'Abnormality of movement' http://www.ebi.ac.uk/efo/EFO_0004260 bone disease 'bone disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002481 'bone disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002481) http://www.ebi.ac.uk/efo/EFO_0004264 vascular disease 'vascular disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'vasculature' 'vascular disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007798 'vascular disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vasculature') http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis 'sclerosing cholangitis' SubClassOf 'bearer_of' some 'rare' 'sclerosing cholangitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'biliary system' http://purl.obolibrary.org/obo/MONDO_0017824 familial isolated pituitary adenoma 'familial isolated pituitary adenoma' EquivalentTo 'Pituitary Gland Adenoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017611 pituitary tumor 'pituitary tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') http://purl.obolibrary.org/obo/MONDO_0017613 intellectual disability-hypotonia-skin hyperpigmentation syndrome 'intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome 'PTEN hamartoma tumor syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0003008 hereditary renal cell carcinoma 'hereditary renal cell carcinoma' EquivalentTo 'renal cell carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0003005 macular retinal edema 'macular retinal edema' EquivalentTo 'retinal edema' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000053) http://purl.obolibrary.org/obo/MONDO_0003000 central nervous system germ cell tumor 'central nervous system germ cell tumor' EquivalentTo 'germ cell tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0017642 intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 'intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017658 hyperekplexia 'hyperekplexia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0003035 ovarian angiosarcoma 'ovarian angiosarcoma' EquivalentTo 'angiosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0003049 ovarian large-cell neuroendocrine carcinoma 'ovarian large-cell neuroendocrine carcinoma' EquivalentTo 'large cell neuroendocrine carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0003059 bile duct cancer 'bile duct cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bile duct') 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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0003060 biliary tract cancer 'biliary tract cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001173) http://purl.obolibrary.org/obo/MONDO_0003062 intestinal benign neoplasm 'intestinal benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'intestine') http://purl.obolibrary.org/obo/MONDO_0003081 thalamic disorder 'thalamic disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'dorsal plus ventral thalamus' 'thalamic disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'dorsal plus ventral thalamus') http://purl.obolibrary.org/obo/MONDO_0003090 extrahepatic bile duct carcinoma 'extrahepatic bile duct carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003703) http://purl.obolibrary.org/obo/MONDO_0003098 mediastinal neural neoplasm 'mediastinal neural neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nerve') and (http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum') 'mediastinal neural neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'nerve' http://purl.obolibrary.org/obo/CL_0002364 cortical thymic epithelial cell 'cortical thymic epithelial cell' SubClassOf 'epithelial cell' 'cortical thymic epithelial cell' SubClassOf http://purl.obolibrary.org/obo/CL_0002293 http://purl.obolibrary.org/obo/CL_0002365 medullary thymic epithelial cell 'medullary thymic epithelial cell' SubClassOf 'epithelial cell' 'medullary thymic epithelial cell' SubClassOf http://purl.obolibrary.org/obo/CL_0002293 http://www.ebi.ac.uk/efo/EFO_0004540 chronic fatigue syndrome 'mental or behavioural disorder' DisjointWith 'chronic fatigue syndrome' 'mental or behavioural disorder' DisjointWith 'chronic fatigue syndrome' 'chronic fatigue syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'skeletal muscle organ, vertebrate' http://www.ebi.ac.uk/efo/EFO_0004593 gestational diabetes 'gestational diabetes' SubClassOf 'pregnancy disorder' 'gestational diabetes' SubClassOf 'pregnancy disorder' http://purl.obolibrary.org/obo/MONDO_0017704 familial partial epilepsy 'familial partial epilepsy' EquivalentTo 'partial epilepsy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017562 congenital patella dislocation, unilateral 'congenital patella dislocation, unilateral' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017563 congenital patella dislocation, bilateral 'congenital patella dislocation, bilateral' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017578 disorder of thiamine metabolism and transport 'disorder of thiamine metabolism and transport' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0015888 http://purl.obolibrary.org/obo/MONDO_0017574 chronic intestinal pseudoobstruction 'chronic intestinal pseudoobstruction' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017571 Proteus-like syndrome 'Proteus-like syndrome' SubClassOf 'genetic disorder' 'Proteus-like syndrome' SubClassOf 'cancer or benign tumor' 'Proteus-like syndrome' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0017582 pituitary adenocarcinoma 'pituitary adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') 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' EquivalentTo 'diffuse large B-cell lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0017592 staphylococcal toxemia 'staphylococcal toxemia' SubClassOf 'bearer_of' some 'rare' 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://www.ebi.ac.uk/efo/EFO_0008328 chronotype measurement 'chronotype measurement' SubClassOf 'is_about' some 'circadian rhythm' 'chronotype measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/GO_0007623 http://purl.obolibrary.org/obo/UBERON_0005562 thymus primordium 'thymus primordium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/GO_1900133 regulation of renin secretion into blood stream 'regulation of renin secretion into blood stream' SubClassOf 'part of' some http://purl.obolibrary.org/obo/GO_0008015 http://purl.obolibrary.org/obo/MONDO_0013927 peroxisome biogenesis disorder 3A (Zellweger) 'peroxisome biogenesis disorder 3A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013936 peroxisome biogenesis disorder 6A (Zellweger) 'peroxisome biogenesis disorder 6A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013937 peroxisome biogenesis disorder 6B 'peroxisome biogenesis disorder 6B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0013938 peroxisome biogenesis disorder 7A (Zellweger) 'peroxisome biogenesis disorder 7A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013931 peroxisome biogenesis disorder 4B 'peroxisome biogenesis disorder 4B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0013932 peroxisome biogenesis disorder 5A (Zellweger) 'peroxisome biogenesis disorder 5A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013930 peroxisome biogenesis disorder 4A (Zellweger) 'peroxisome biogenesis disorder 4A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013948 peroxisome biogenesis disorder 10A (Zellweger) 'peroxisome biogenesis disorder 10A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013949 peroxisome biogenesis disorder 11A (Zellweger) 'peroxisome biogenesis disorder 11A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013942 peroxisome biogenesis disorder 8A (Zellweger) 'peroxisome biogenesis disorder 8A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013950 peroxisome biogenesis disorder 11B 'peroxisome biogenesis disorder 11B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0013951 peroxisome biogenesis disorder 12A (Zellweger) 'peroxisome biogenesis disorder 12A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013952 peroxisome biogenesis disorder 13A (Zellweger) 'peroxisome biogenesis disorder 13A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0013967 peroxisome biogenesis disorder 14B 'peroxisome biogenesis disorder 14B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0013960 sinoatrial node dysfunction and deafness 'sinoatrial node dysfunction and deafness' SubClassOf 'disease has feature' some 'sinoatrial node disorder' http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease 'inherited auditory system disease' SubClassOf 'hereditary neurological disease' 'inherited auditory system disease' EquivalentTo 'auditory system disease' and ('bearer_of' some 'inherited') 'inherited auditory system disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013988 congenital heart defects, multiple types, 3 'congenital heart defects, multiple types, 3' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0037938 inborn disorder of aspartate family metabolism 'inborn disorder of aspartate family metabolism' SubClassOf 'amino acid metabolism disease' 'inborn disorder of aspartate family metabolism' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0013991 obesity due to congenital leptin deficiency 'obesity due to congenital leptin deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0013992 obesity due to leptin receptor gene deficiency 'obesity due to leptin receptor gene deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/HP_0006159 Mesoaxial hand polydactyly 'Mesoaxial hand polydactyly' SubClassOf http://purl.obolibrary.org/obo/HP_0010442 http://purl.obolibrary.org/obo/MONDO_0023369 disorder of facial skeleton 'disorder of facial skeleton' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0011156) 'disorder of facial skeleton' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0011156 http://purl.obolibrary.org/obo/HP_0006101 Finger syndactyly 'Finger syndactyly' SubClassOf 'Abnormal digit morphology' 'Finger syndactyly' SubClassOf http://purl.obolibrary.org/obo/HP_0001159 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/UBERON_0005440 ductus arteriosus 'ductus arteriosus' SubClassOf 'heart component' 'ductus arteriosus' SubClassOf 'artery' 'ductus arteriosus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 'ductus arteriosus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005985 http://purl.obolibrary.org/obo/MONDO_0013825 congenital diarrhea 6 'congenital diarrhea 6' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'hereditary motor neuron disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'motor neuron disease' 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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0023224 inherited reflex epilepsy 'inherited reflex epilepsy' EquivalentTo 'reflex epilepsy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0037858 inherited fatty acid metabolism disorder 'inherited fatty acid metabolism disorder' EquivalentTo 'inborn errors of metabolism' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006631) 'inherited fatty acid metabolism disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006631 http://www.ebi.ac.uk/efo/EFO_0008521 rhinitis 'rhinitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001826 'rhinitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001826) 'rhinitis' SubClassOf 'disease has inflammation site' some 'mucosa' http://www.ebi.ac.uk/efo/EFO_0008528 urothelial carcinoma 'urothelial carcinoma' EquivalentTo 'Transitional Cell Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal system') 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' 'enlarged vestibular aqueduct syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002279 http://www.ebi.ac.uk/efo/EFO_0008550 Hepatobiliary Neoplasm 'Hepatobiliary Neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hepatobiliary system') http://www.ebi.ac.uk/efo/EFO_0008546 poisoning 'poisoning' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0008549 digestive system neoplasm 'digestive system neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system') 'digestive system neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system' http://www.ebi.ac.uk/efo/EFO_0008578 sperm motility measurement 'sperm motility measurement' SubClassOf 'is_about' some 'reproduction' http://www.ebi.ac.uk/efo/EFO_0008581 salivary gland disease 'salivary gland disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland' 'salivary gland disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://www.ebi.ac.uk/efo/EFO_0008560 female infertility 'female infertility' EquivalentTo 'infertility' and (http://purl.obolibrary.org/obo/RO_0004026 some 'female reproductive system') http://www.ebi.ac.uk/efo/EFO_0008568 Sleep Disorder 'Sleep Disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004024 some 'sleep') 'Sleep Disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'sleep' http://www.ebi.ac.uk/efo/EFO_0008588 peritonitis 'peritonitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'peritoneum') 'peritonitis' SubClassOf 'disease has inflammation site' some 'peritoneum' http://purl.obolibrary.org/obo/UBERON_0005396 carotid artery segment 'carotid artery segment' SubClassOf 'artery' 'carotid artery segment' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/MONDO_0013730 graft versus host disease 'graft versus host disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 'autosomal systemic lupus erythematosus type 16' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/GO_0030218 erythrocyte differentiation 'erythrocyte differentiation' SubClassOf 'part of' some http://purl.obolibrary.org/obo/GO_0034101 http://purl.obolibrary.org/obo/MONDO_0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 'congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0037748 hyperlipoproteinemia 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0010980) 'hyperlipoproteinemia' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0010980 http://purl.obolibrary.org/obo/MONDO_0013771 transient infantile hypertriglyceridemia and hepatosteatosis 'transient infantile hypertriglyceridemia and hepatosteatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013772 Huppke-Brendel syndrome 'Huppke-Brendel syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0037747 spinal injury 'spinal injury' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001130 'spinal injury' EquivalentTo 'injury' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001130) http://purl.obolibrary.org/obo/MONDO_0037737 peritoneal solitary fibrous tumor 'peritoneal solitary fibrous tumor' EquivalentTo 'solitary fibrous tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum') http://purl.obolibrary.org/obo/MONDO_0013789 DDOST-congenital disorder of glycosylation 'DDOST-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0037735 sebaceous gland cancer 'sebaceous gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001821) http://purl.obolibrary.org/obo/MONDO_0023122 familial prostate carcinoma 'familial prostate carcinoma' EquivalentTo 'prostate carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0023113 familial colorectal cancer 'familial colorectal cancer' EquivalentTo 'colorectal cancer' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0008510 Lyme disease 'Lyme disease' SubClassOf http://purl.obolibrary.org/obo/RO_0002451 some 'Ixodes scapularis' http://purl.obolibrary.org/obo/MONDO_0023149 infection due to clostridium perfringens 'infection due to clostridium perfringens' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0008518 polymyalgia rheumatica 'polymyalgia rheumatica' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0008506 hyperparathyroidism 'hyperparathyroidism' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0000843 http://www.ebi.ac.uk/efo/EFO_0008507 interstitial cystitis 'interstitial cystitis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0008509 lobular breast carcinoma 'lobular breast carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001912) 'lobular breast carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001912 http://purl.obolibrary.org/obo/MONDO_0013598 myostatin-related muscle hypertrophy 'myostatin-related muscle hypertrophy' SubClassOf 'disease has feature' some 'myostatin-related muscle hypertrophy' http://purl.obolibrary.org/obo/MONDO_0013595 hyperbiliverdinemia 'hyperbiliverdinemia' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_140462 X-linked recessive hereditary axonal motor and sensory neuropathy 'X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf 'hereditary motor neuron disease' 'X-linked recessive hereditary axonal motor and sensory neuropathy' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_47045 Familial cold urticaria 'Familial cold urticaria' SubClassOf 'hereditary skin disorder' http://www.ebi.ac.uk/efo/EFO_0008490 ampulla of Vater adenocarcinoma 'ampulla of Vater adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hepatopancreatic ampulla') http://purl.obolibrary.org/obo/MONDO_0013640 familial retinal arterial macroaneurysm 'familial retinal arterial macroaneurysm' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013659 microcephaly-capillary malformation syndrome 'microcephaly-capillary malformation syndrome' SubClassOf 'disease has feature' some 'capillary malformation' http://purl.obolibrary.org/obo/MONDO_0013661 combined malonic and methylmalonic acidemia 'combined malonic and methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' 'combined malonic and methylmalonic acidemia' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/UBERON_0005945 neurocranial trabecula 'neurocranial trabecula' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000440 http://www.orpha.net/ORDO/Orphanet_306504 Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'inherited epidermolysis bullosa' 'Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome' SubClassOf 'epidermolysis bullosa' http://purl.obolibrary.org/obo/UBERON_2001280 branchiostegal ray 3 'branchiostegal ray 3' SubClassOf 'part of' some 'anatomical system' 'branchiostegal ray 3' SubClassOf 'part of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_2001281 branchiostegal ray 2 'branchiostegal ray 2' SubClassOf 'part of' some 'anatomical system' 'branchiostegal ray 2' SubClassOf 'part of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_2001279 branchiostegal ray 1 'branchiostegal ray 1' SubClassOf 'part of' some 'skeletal system' 'branchiostegal ray 1' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/MONDO_0013531 PSPH deficiency 'PSPH deficiency' SubClassOf 'bearer_of' some 'rare' 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_0013577 Lipedema 'Lipedema' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013584 hereditary sensory neuropathy-deafness-dementia syndrome 'hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' 'hereditary sensory neuropathy-deafness-dementia syndrome' SubClassOf 'hereditary sensory and autonomic neuropathy type 1' http://purl.obolibrary.org/obo/MONDO_0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013361 congenital prothrombin deficiency 'congenital prothrombin deficiency' EquivalentTo 'prothrombin deficiency' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0013378 orofacial cleft 10 'orofacial cleft 10' SubClassOf 'bearer_of' some 'has an isolated presentation' http://www.orpha.net/ORDO/Orphanet_247522 Primary ciliary dyskinesia - retinitis pigmentosa 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'Retinal dystrophy' 'Primary ciliary dyskinesia - retinitis pigmentosa' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome 'porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_101075 X-linked Charcot-Marie-Tooth disease type 1 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'hereditary motor neuron disease' 'X-linked Charcot-Marie-Tooth disease type 1' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_101052 Microlissencephaly type B 'Microlissencephaly type B' SubClassOf 'Lissencephaly' 'Microlissencephaly type B' SubClassOf 'Cerebral malformation with epilepsy' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0008602 paraneoplastic pemphigus 'paraneoplastic pemphigus' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic pemphigus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700266 http://purl.obolibrary.org/obo/MONDO_0013452 multisystemic smooth muscle dysfunction syndrome 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0008624 vitreous body disease 'vitreous body disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001798 'vitreous body disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001798) http://purl.obolibrary.org/obo/MONDO_0013252 Warsaw breakage syndrome 'Warsaw breakage syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013281 COG4-congenital disorder of glycosylation 'COG4-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013282 alpha 1-antitrypsin deficiency 'alpha 1-antitrypsin deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0037255 ovarian serous tumor 'ovarian serous tumor' EquivalentTo 'serous neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/UBERON_0005750 glomerular parietal epithelium 'glomerular parietal epithelium' SubClassOf 'epithelium' 'glomerular parietal epithelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0006914 http://purl.obolibrary.org/obo/MONDO_0003901 cerebellar hemangioblastoma 'cerebellar hemangioblastoma' EquivalentTo 'hemangioblastoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebellum') http://www.orpha.net/ORDO/Orphanet_370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'inborn errors of metabolism' 'Autism spectrum disorder-epilepsy-arthrogryposis syndrome' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disorder 'muscle tissue disorder' SubClassOf 'musculoskeletal system disease' 'muscle tissue disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002385 'muscle tissue disorder' SubClassOf 'musculoskeletal system disease' 'muscle tissue disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002385) http://purl.obolibrary.org/obo/MONDO_0003937 spondylitis 'spondylitis' SubClassOf 'bone disease' 'spondylitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'vertebra') 'spondylitis' SubClassOf 'disease has inflammation site' some 'vertebra' http://www.orpha.net/ORDO/Orphanet_369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'Retinal dystrophy' 'Microcornea-myopic chorioretinal atrophy-telecanthus syndrome' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0003947 hyper-IgM syndrome 'hyper-IgM syndrome' SubClassOf 'hyperimmunoglobulin syndrome' 'hyper-IgM syndrome' SubClassOf 'hyperimmunoglobulin syndrome' 'hyper-IgM syndrome' EquivalentTo 'inborn error of immunity' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0023035) 'hyper-IgM syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0023035 http://purl.obolibrary.org/obo/MONDO_0003948 cerebral hemangioma 'cerebral hemangioma' EquivalentTo 'hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'telencephalon') http://purl.obolibrary.org/obo/MONDO_0003978 colon small cell neuroendocrine carcinoma 'colon small cell neuroendocrine carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0003987 lung lymphoma 'lung lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.orpha.net/ORDO/Orphanet_247790 FTH1-related iron overload 'FTH1-related iron overload' SubClassOf 'inborn errors of metabolism' 'FTH1-related iron overload' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0013311 ectodermal dysplasia-syndactyly syndrome 'ectodermal dysplasia-syndactyly syndrome' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001159 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 'bearer_of' some 'congenital' 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 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0008997 synovitis 'synovitis' SubClassOf 'disease has feature' some 'arthritis' 'synovitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002018) 'synovitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0002018 http://purl.obolibrary.org/obo/MONDO_0013334 cocoon syndrome 'cocoon syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0027766 generalized lipodystrophy 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0009064) 'generalized lipodystrophy' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0009064 http://purl.obolibrary.org/obo/MONDO_0013118 Nijmegen breakage syndrome-like disorder 'Nijmegen breakage syndrome-like disorder' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0005609 iliac artery 'iliac artery' SubClassOf 'artery' 'iliac artery' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004573 http://purl.obolibrary.org/obo/MONDO_0027772 lung colloid adenocarcinoma 'lung colloid adenocarcinoma' EquivalentTo 'mucinous carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0013172 polymicrogyria with optic nerve hypoplasia 'polymicrogyria with optic nerve hypoplasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0006699 Premature atrial contractions 'Premature atrial contractions' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'Premature atrial contractions' SubClassOf http://purl.obolibrary.org/obo/HP_0011675 http://www.orpha.net/ORDO/Orphanet_140944 CLOVE syndrome 'CLOVE syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0003805 malignant pericardial mesothelioma 'malignant pericardial mesothelioma' EquivalentTo 'Malignant Mesothelioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pericardium') http://purl.obolibrary.org/obo/MONDO_0003812 ovarian endometrial cancer 'ovarian endometrial cancer' EquivalentTo 'endometrioid tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0003816 articular cartilage disorder 'articular cartilage disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'articular cartilage of joint') 'articular cartilage disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'articular cartilage of joint' http://www.orpha.net/ORDO/Orphanet_247691 Retinal vasculopathy and cerebral leukodystrophy 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Retinal dystrophy' 'Retinal vasculopathy and cerebral leukodystrophy' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0003874 ovarian serous surface papillary adenocarcinoma 'ovarian serous surface papillary adenocarcinoma' EquivalentTo 'papillary carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013225 congenital generalized lipodystrophy type 4 'congenital generalized lipodystrophy type 4' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0013226 combined immunodeficiency with faciooculoskeletal anomalies 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_397725 COASY protein-associated neurodegeneration 'COASY protein-associated neurodegeneration' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0008503 Worster-Drought syndrome 'Worster-Drought syndrome' SubClassOf 'disease has feature' some 'cerebral palsy' 'Worster-Drought syndrome' SubClassOf 'disease has feature' some 'progressive bulbar palsy' 'Worster-Drought syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008523 Blau syndrome 'Blau syndrome' SubClassOf 'autoimmune disorder of musculoskeletal system' http://purl.obolibrary.org/obo/UBERON_0014454 visceral abdominal adipose tissue 'visceral abdominal adipose tissue' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002075 http://purl.obolibrary.org/obo/MONDO_0008540 extensor tendons of finger anomalies 'extensor tendons of finger anomalies' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008565 familial thyroglossal duct cyst 'familial thyroglossal duct cyst' EquivalentTo 'Thyroglossal Duct Cyst' and ('bearer_of' some 'inherited') 'familial thyroglossal duct cyst' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008562 thumb deformity-alopecia-pigmentation anomaly syndrome 'thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf 'bearer_of' some 'rare' 'thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf 'congenital limb malformation' 'thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0008588 hereditary geniospasm 'hereditary geniospasm' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive 'cone-rod synaptic disorder syndrome, congenital nonprogressive' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0002914 uterine sarcoma 'uterine sarcoma' SubClassOf 'bearer_of' some 'rare' 'uterine sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://www.ebi.ac.uk/efo/EFO_0002916 esophageal carcinoma 'esophageal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://www.ebi.ac.uk/efo/EFO_0002917 ovarian serous adenocarcinoma 'ovarian serous adenocarcinoma' EquivalentTo 'serous adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_0002919 uterine carcinoma 'uterine carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterus') http://www.ebi.ac.uk/efo/EFO_0002938 hypopharyngeal carcinoma 'hypopharyngeal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hypopharynx') http://www.ebi.ac.uk/efo/EFO_0002939 medulloblastoma 'medulloblastoma' EquivalentTo 'embryonal neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebellum') http://www.ebi.ac.uk/efo/EFO_0002921 vulvar carcinoma 'vulvar carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://www.ebi.ac.uk/efo/EFO_0002920 vulva sarcoma 'vulva sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://www.ebi.ac.uk/efo/EFO_0002950 pregnancy 'pregnancy' SubClassOf 'reproduction' 'pregnancy' SubClassOf http://purl.obolibrary.org/obo/GO_0022414 http://www.ebi.ac.uk/efo/EFO_0002945 familial cardiomyopathy 'familial cardiomyopathy' EquivalentTo 'cardiomyopathy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0008429 Singleton-Merten dysplasia 'Singleton-Merten dysplasia' SubClassOf 'syndromic disease' 'Singleton-Merten dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 http://purl.obolibrary.org/obo/MONDO_0008439 spastic paraplegia-epilepsy-intellectual disability syndrome 'spastic paraplegia-epilepsy-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'hereditary skin disorder' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/HP_0031860 Abnormal heart rate variability 'Abnormal heart rate variability' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 'Abnormal heart rate variability' SubClassOf http://purl.obolibrary.org/obo/HP_0011675 http://purl.obolibrary.org/obo/MONDO_0008443 spastic paraplegia-precocious puberty syndrome 'spastic paraplegia-precocious puberty syndrome' SubClassOf 'disease has feature' some 'precocious puberty' http://purl.obolibrary.org/obo/MONDO_0008467 Czeizel-Losonci syndrome 'Czeizel-Losonci syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008476 spondyloepimetaphyseal dysplasia, Strudwick type 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'disease has feature' some 'scoliosis' http://purl.obolibrary.org/obo/MONDO_0008486 steatocystoma multiplex-natal teeth syndrome 'steatocystoma multiplex-natal teeth syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'disease has feature' some 'collagenopathy' http://purl.obolibrary.org/obo/MONDO_0008499 short stature-wormian bones-dextrocardia syndrome 'short stature-wormian bones-dextrocardia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0004851 aorta endothelium 'aorta endothelium' SubClassOf 'part of' some 'blood vessel' 'aorta endothelium' SubClassOf 'endothelium' 'aorta endothelium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0004638 http://purl.obolibrary.org/obo/GO_0046655 folic acid metabolic process 'folic acid metabolic process' SubClassOf http://purl.obolibrary.org/obo/GO_0006082 http://purl.obolibrary.org/obo/MONDO_0008315 prostate cancer 'prostate cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://purl.obolibrary.org/obo/MONDO_0008312 autosomal dominant prognathism 'autosomal dominant prognathism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' http://purl.obolibrary.org/obo/MONDO_0008337 familial pterygium of the conjunctiva 'familial pterygium of the conjunctiva' EquivalentTo 'pterygium' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome 'short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008371 Dowling-Degos disease 'Dowling-Degos disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008380 retinoblastoma 'retinoblastoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003902 http://purl.obolibrary.org/obo/MONDO_0008387 ring dermoid of cornea 'ring dermoid of cornea' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008396 oculodental syndrome, Rutherfurd type 'oculodental syndrome, Rutherfurd type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0004908 upper digestive tract 'upper digestive tract' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 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/UBERON_0004746 prootic bone 'prootic bone' SubClassOf 'part of' some 'skeletal system' 'prootic bone' SubClassOf 'part of' some 'anatomical system' 'prootic bone' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 http://purl.obolibrary.org/obo/UBERON_0004742 dentary 'dentary' SubClassOf 'part of' some 'skeletal system' 'dentary' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 'dentary' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001708 'dentary' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0011156 http://purl.obolibrary.org/obo/UBERON_0004744 articular/anguloarticular 'articular/anguloarticular' SubClassOf 'part of' some 'skeletal system' 'articular/anguloarticular' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001708 'articular/anguloarticular' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 'articular/anguloarticular' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0011156 http://purl.obolibrary.org/obo/UBERON_0004741 cleithrum 'cleithrum' SubClassOf 'part of' some 'skeletal system' 'cleithrum' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0004740 basibranchial bone 'basibranchial bone' SubClassOf 'part of' some 'skeletal system' 'basibranchial bone' SubClassOf 'part of' some 'anatomical system' http://www.orpha.net/ORDO/Orphanet_309005 Disorder of lipid metabolism 'Disorder of lipid metabolism' SubClassOf 'inborn errors of metabolism' 'Disorder of lipid metabolism' SubClassOf 'metabolic disease' 'Disorder of lipid metabolism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008207 chondromalacia patellae 'chondromalacia patellae' EquivalentTo 'chondromalacia' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002446) 'chondromalacia patellae' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002446 http://purl.obolibrary.org/obo/MONDO_0008211 pseudoleprechaunism syndrome, Patterson type 'pseudoleprechaunism syndrome, Patterson type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0023865 corneal infection 'corneal infection' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cornea') http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency 'prolidase deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0023868 melanoma associated retinopathy 'melanoma associated retinopathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008244 piebaldism 'piebaldism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008259 familial spontaneous pneumothorax 'familial spontaneous pneumothorax' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008265 polycystic liver disease 1 'polycystic liver disease 1' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0008280 Peutz-Jeghers syndrome 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'Peutz-Jeghers Polyp' 'Peutz-Jeghers syndrome' SubClassOf 'disease has feature' some 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0008295 sporadic porphyria cutanea tarda 'sporadic porphyria cutanea tarda' EquivalentTo 'porphyria cutanea tarda' and ('bearer_of' some 'acquired') http://www.orpha.net/ORDO/Orphanet_300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'familial cardiomyopathy' 'Familial dilated cardiomyopathy with conduction defect due to LMNA mutation' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/UBERON_0014892 skeletal muscle organ, vertebrate 'skeletal muscle organ, vertebrate' SubClassOf 'anatomical structure' 'skeletal muscle organ, vertebrate' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005090 http://purl.obolibrary.org/obo/MONDO_0023726 mediastinal yolk sac tumor 'mediastinal yolk sac tumor' EquivalentTo 'endodermal sinus tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum') http://purl.obolibrary.org/obo/MONDO_0008118 odontomatosis-aortae esophagus stenosis syndrome 'odontomatosis-aortae esophagus stenosis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008113 Schilbach-Rott syndrome 'Schilbach-Rott syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0002140 Ischemic stroke 'Ischemic stroke' SubClassOf 'Abnormal cerebral vascular morphology' 'Ischemic stroke' SubClassOf http://purl.obolibrary.org/obo/HP_0001297 http://purl.obolibrary.org/obo/HP_0100749 Chest pain 'Chest pain' SubClassOf 'Constitutional symptom' 'Chest pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/MONDO_0008145 Ollier disease 'Ollier disease' SubClassOf 'disease has feature' some 'bone benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0008163 otofaciocervical syndrome 'otofaciocervical syndrome' SubClassOf 'bearer_of' some 'rare' 'otofaciocervical syndrome' SubClassOf 'genetic disorder' 'otofaciocervical syndrome' SubClassOf 'mandibulofacial dysostosis' 'otofaciocervical syndrome' SubClassOf 'hereditary otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0008170 ovarian cancer 'ovarian cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/UBERON_0000305 amnion 'amnion' SubClassOf 'anatomical structure' 'amnion' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005631 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_0008185 hereditary chronic pancreatitis 'hereditary chronic pancreatitis' SubClassOf 'bearer_of' some 'rare' 'hereditary chronic pancreatitis' EquivalentTo 'chronic pancreatitis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0000319 cytotrophoblast 'cytotrophoblast' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000088 http://purl.obolibrary.org/obo/UBERON_0000317 colonic mucosa 'colonic mucosa' SubClassOf 'part of' some 'intestine' 'colonic mucosa' SubClassOf 'part of' some 'large intestine' 'colonic mucosa' SubClassOf 'part of' some 'alimentary part of gastrointestinal system' 'colonic mucosa' SubClassOf 'mucosa' 'colonic mucosa' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001207 http://purl.obolibrary.org/obo/UBERON_0000160 intestine 'intestine' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0000165 mouth 'mouth' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0000115 lung epithelium 'lung epithelium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001558 http://www.orpha.net/ORDO/Orphanet_98873 Congenital dyserythropoietic anemia type II 'Congenital dyserythropoietic anemia type II' SubClassOf 'inborn errors of metabolism' 'Congenital dyserythropoietic anemia type II' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0023603 hereditary disorder of connective tissue 'hereditary disorder of connective tissue' EquivalentTo 'connective tissue disease' and ('bearer_of' some 'inherited') http://www.orpha.net/ORDO/Orphanet_3453 Autoimmune polyendocrinopathy type 1 'Autoimmune polyendocrinopathy type 1' SubClassOf 'hereditary hypoparathyroidism' 'Autoimmune polyendocrinopathy type 1' SubClassOf 'hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_251523 Recurrent infections - inflammatory syndrome due to zinc metabolism disorder 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'inborn errors of metabolism' 'Recurrent infections - inflammatory syndrome due to zinc metabolism disorder' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/HP_0002080 Intention tremor 'Intention tremor' SubClassOf 'Tremor' 'Intention tremor' SubClassOf http://purl.obolibrary.org/obo/HP_0030186 http://purl.obolibrary.org/obo/MONDO_0008007 tooth ankylosis 'tooth ankylosis' EquivalentTo 'ankylosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'calcareous tooth') http://purl.obolibrary.org/obo/MONDO_0008004 familial mitral valve prolapse 'familial mitral valve prolapse' EquivalentTo 'mitral valve prolapse' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/HP_0002027 Abdominal pain 'Abdominal pain' SubClassOf 'Constitutional symptom' 'Abdominal pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/MONDO_0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 'muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0008060 nonsyndromic congenital nail disorder 1 'nonsyndromic congenital nail disorder 1' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008094 familial multiple nevi flammei 'familial multiple nevi flammei' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0000011 parasympathetic nervous system 'parasympathetic nervous system' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002410 http://purl.obolibrary.org/obo/UBERON_0000013 sympathetic nervous system 'sympathetic nervous system' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002410 http://purl.obolibrary.org/obo/UBERON_0000029 lymph node 'lymph node' SubClassOf 'anatomical structure' 'lymph node' SubClassOf 'part of' some 'anatomical system' 'lymph node' SubClassOf 'part of' some 'immune system' 'lymph node' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005057 http://purl.obolibrary.org/obo/UBERON_0000022 feather 'feather' SubClassOf 'part of' some 'multicellular organism' 'feather' SubClassOf 'part of' some 'integumental system' 'feather' SubClassOf 'anatomical structure' 'feather' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000021 http://purl.obolibrary.org/obo/UBERON_0000033 head 'head' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007811 http://purl.obolibrary.org/obo/UBERON_0000004 nose 'nose' SubClassOf 'part of' some 'anatomical system' 'nose' SubClassOf 'part of' some 'sensory system' 'nose' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000020 'nose' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001456 http://purl.obolibrary.org/obo/UBERON_0000059 large intestine 'large intestine' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0004907 'large intestine' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0000057 urethra 'urethra' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001556 http://www.ebi.ac.uk/efo/EFO_0022485 paragangliomas with sensorineural hearing loss 'paragangliomas with sensorineural hearing loss' SubClassOf 'inherited auditory system disease' http://purl.obolibrary.org/obo/HP_0100578 Lipoatrophy 'Lipoatrophy' SubClassOf 'Abnormal adipose tissue morphology' 'Lipoatrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0009125 http://purl.obolibrary.org/obo/MONDO_0023557 infective vaginitis 'infective vaginitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'vagina') http://purl.obolibrary.org/obo/HP_0002293 Alopecia of scalp 'Alopecia of scalp' SubClassOf 'Abnormality of the integument' 'Alopecia of scalp' SubClassOf http://purl.obolibrary.org/obo/HP_0001596 http://purl.obolibrary.org/obo/MONDO_0023419 hyperprolinemia 'hyperprolinemia' SubClassOf 'inborn disorder of proline metabolism' 'hyperprolinemia' SubClassOf 'inborn disorder of proline metabolism' http://www.orpha.net/ORDO/Orphanet_309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'inborn errors of metabolism' 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'metabolic disease' 'Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018715 congenital hemangioma 'congenital hemangioma' SubClassOf 'hemangioma' 'congenital hemangioma' SubClassOf 'bearer_of' some 'congenital' 'congenital hemangioma' SubClassOf 'bearer_of' some 'rare' 'congenital hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/HP_0002653 Bone pain 'Bone pain' SubClassOf 'Constitutional symptom' 'Bone pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/MONDO_0018734 verrucous hemangioma 'verrucous hemangioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018740 drug-induced methemoglobinemia 'drug-induced methemoglobinemia' EquivalentTo 'methemoglobinemia' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0004116 esophageal small cell neuroendocrine carcinoma 'esophageal small cell neuroendocrine carcinoma' EquivalentTo 'small cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://purl.obolibrary.org/obo/MONDO_0018751 hereditary otorhinolaryngologic disease 'hereditary otorhinolaryngologic disease' SubClassOf 'bearer_of' some 'rare' 'hereditary otorhinolaryngologic disease' EquivalentTo 'otorhinolaryngologic disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0004126 thyroiditis 'thyroiditis' EquivalentTo 'disease' and ('disease has inflammation site' some 'thyroid gland') 'thyroiditis' SubClassOf 'disease has inflammation site' some 'thyroid gland' http://purl.obolibrary.org/obo/MONDO_0018772 Joubert syndrome 'Joubert syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0012042 Aspirin-induced asthma 'Aspirin-induced asthma' SubClassOf 'Abnormality of the respiratory system' 'Aspirin-induced asthma' SubClassOf 'Abnormality of the immune system' 'Aspirin-induced asthma' SubClassOf http://purl.obolibrary.org/obo/HP_0002099 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_0004166 hereditary fallopian tube carcinoma 'hereditary fallopian tube carcinoma' EquivalentTo 'Fallopian Tube Carcinoma' and ('bearer_of' some 'inherited') http://www.orpha.net/ORDO/Orphanet_314572 Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Retinal dystrophy' 'Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0043786 serositis 'serositis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000042 http://purl.obolibrary.org/obo/MONDO_0004180 benign urinary system neoplasm 'benign urinary system neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal system') http://purl.obolibrary.org/obo/MONDO_0004187 nodular fasciitis 'nodular fasciitis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0004183 axonal neuropathy 'axonal neuropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/GO_0030424 'axonal neuropathy' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/GO_0030424) http://purl.obolibrary.org/obo/MONDO_0004192 urethra cancer 'urethra cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urethra') http://purl.obolibrary.org/obo/MONDO_0043765 presbycusis 'presbycusis' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/UBERON_0009115 thoracic thymus 'thoracic thymus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002075 http://www.orpha.net/ORDO/Orphanet_79404 Junctional epidermolysis bullosa, Herlitz type 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'inherited epidermolysis bullosa' 'Junctional epidermolysis bullosa, Herlitz type' SubClassOf 'epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79403 Junctional epidermolysis bullosa - pyloric atresia 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'inherited epidermolysis bullosa' 'Junctional epidermolysis bullosa - pyloric atresia' SubClassOf 'epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79402 Generalized junctional epidermolysis bullosa, non-Herlitz type 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'inherited epidermolysis bullosa' 'Generalized junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'epidermolysis bullosa' http://www.orpha.net/ORDO/Orphanet_79458 Oley syndrome 'Oley syndrome' SubClassOf 'eyelid neoplasm' http://www.orpha.net/ORDO/Orphanet_79452 Milroy disease 'Milroy disease' SubClassOf 'hereditary skin disorder' 'Milroy disease' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_314629 CLN11 disease 'CLN11 disease' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0018612 congenital hypothyroidism 'congenital hypothyroidism' SubClassOf 'bearer_of' some 'rare' 'congenital hypothyroidism' EquivalentTo 'hypothyroidism' and ('bearer_of' some 'congenital') 'congenital hypothyroidism' SubClassOf 'bearer_of' some 'congenital' http://www.orpha.net/ORDO/Orphanet_79293 Familial LCAT deficiency 'Familial LCAT deficiency' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis 'hereditary amyloidosis' EquivalentTo 'amyloidosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0004001 compartment syndrome 'compartment syndrome' SubClassOf 'disease has feature' some 'ischemic disease' http://purl.obolibrary.org/obo/MONDO_0018648 Keratocystic odontogenic tumor 'Keratocystic odontogenic tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018656 tremor-ataxia-central hypomyelination syndrome 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'inherited neurodegenerative disorder' http://www.orpha.net/ORDO/Orphanet_231556 Late-onset localized junctional epidermolysis bullosa - intellectual disability 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'inherited epidermolysis bullosa' 'Late-onset localized junctional epidermolysis bullosa - intellectual disability' SubClassOf 'epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0004021 mediastinal malignant lymphoma 'mediastinal malignant lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum') http://purl.obolibrary.org/obo/MONDO_0018661 Zika virus infectious disease 'Zika virus infectious disease' SubClassOf 'disease has feature' some 'conjunctivitis' 'Zika virus infectious disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018675 IgG4-related ophthalmic disorder 'IgG4-related ophthalmic disorder' EquivalentTo 'IgG4-related disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eye') http://purl.obolibrary.org/obo/MONDO_0018686 acquired Creutzfeldt-Jakob disease 'acquired Creutzfeldt-Jakob disease' SubClassOf 'bearer_of' some 'acquired' 'acquired Creutzfeldt-Jakob disease' EquivalentTo 'Creutzfeldt Jacob Disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0018683 acquired ichthyosis 'acquired ichthyosis' SubClassOf 'bearer_of' some 'acquired' 'acquired ichthyosis' EquivalentTo 'ichthyosis' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0018696 corticobasal syndrome 'corticobasal syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018698 hereditary neuroendocrine tumor of small intestine 'hereditary neuroendocrine tumor of small intestine' EquivalentTo 'small intestine neuroendocrine tumor' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0004069 inborn mitochondrial metabolism disorder 'inborn mitochondrial metabolism disorder' EquivalentTo 'inborn errors of metabolism' and (http://purl.obolibrary.org/obo/RO_0004020 some 'mitochondrion') http://purl.obolibrary.org/obo/GO_0061533 norepinephrine secretion, neurotransmission 'norepinephrine secretion, neurotransmission' SubClassOf 'secretion by cell' 'norepinephrine secretion, neurotransmission' SubClassOf http://purl.obolibrary.org/obo/GO_0050432 http://purl.obolibrary.org/obo/HP_0002573 Hematochezia 'Hematochezia' SubClassOf 'Diarrhea' 'Hematochezia' SubClassOf http://purl.obolibrary.org/obo/HP_0025085 http://purl.obolibrary.org/obo/MONDO_0004095 B-cell neoplasm 'B-cell neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'B cell' http://www.orpha.net/ORDO/Orphanet_79322 DPM1-CDG 'DPM1-CDG' SubClassOf 'inborn errors of metabolism' 'DPM1-CDG' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/HP_0002829 Arthralgia 'Arthralgia' SubClassOf 'Constitutional symptom' 'Arthralgia' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/MONDO_0018506 mesenchymal tumor of small intestine 'mesenchymal tumor of small intestine' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018502 hereditary gastric cancer 'hereditary gastric cancer' EquivalentTo 'gastric cancer' and ('bearer_of' some 'inherited') 'hereditary gastric cancer' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0000473 testis 'testis' SubClassOf 'part of' some 'anatomical system' 'testis' SubClassOf 'part of' some 'reproductive system' 'testis' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003135 http://purl.obolibrary.org/obo/UBERON_0000474 female reproductive system 'female reproductive system' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0003100 'female reproductive system' EquivalentTo 'reproductive system' and ('part of' some http://purl.obolibrary.org/obo/UBERON_0003100) http://purl.obolibrary.org/obo/MONDO_0018513 squamous cell carcinoma of colon 'squamous cell carcinoma of colon' SubClassOf 'bearer_of' some 'rare' 'squamous cell carcinoma of colon' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/HP_0002850 Decreased circulating total IgM 'Decreased circulating total IgM' SubClassOf 'Abnormality of the immune system' 'Decreased circulating total IgM' SubClassOf 'Abnormality of blood and blood-forming tissues' 'Decreased circulating total IgM' SubClassOf 'Abnormal cellular physiology' 'Decreased circulating total IgM' SubClassOf http://purl.obolibrary.org/obo/HP_0004313 http://purl.obolibrary.org/obo/MONDO_0018515 squamous cell carcinoma of rectum 'squamous cell carcinoma of rectum' SubClassOf 'bearer_of' some 'rare' 'squamous cell carcinoma of rectum' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://purl.obolibrary.org/obo/MONDO_0018511 epithelial tumor of the appendix 'epithelial tumor of the appendix' SubClassOf 'bearer_of' some 'rare' 'epithelial tumor of the appendix' EquivalentTo 'epithelial neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') http://purl.obolibrary.org/obo/MONDO_0018521 squamous cell carcinoma of pancreas 'squamous cell carcinoma of pancreas' SubClassOf 'bearer_of' some 'rare' 'squamous cell carcinoma of pancreas' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas') http://purl.obolibrary.org/obo/MONDO_0018531 carcinoma of liver and intrahepatic biliary tract 'carcinoma of liver and intrahepatic biliary tract' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://purl.obolibrary.org/obo/MONDO_0018541 familial hypoaldosteronism 'familial hypoaldosteronism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018561 precocious puberty in female 'precocious puberty in female' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003100 'precocious puberty in female' EquivalentTo 'precocious puberty' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003100) http://purl.obolibrary.org/obo/MONDO_0043543 iatrogenic disease 'iatrogenic disease' SubClassOf 'bearer_of' some 'iatrogenic' 'iatrogenic disease' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0043510 brain injury 'brain injury' EquivalentTo 'injury' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://purl.obolibrary.org/obo/MONDO_0018582 GCGR-related hyperglucagonemia 'GCGR-related hyperglucagonemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0043579 enteritis 'enteritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'small intestine') 'enteritis' SubClassOf 'disease has inflammation site' some 'small intestine' http://purl.obolibrary.org/obo/UBERON_0000371 syncytiotrophoblast 'syncytiotrophoblast' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000088 http://purl.obolibrary.org/obo/UBERON_0000382 apocrine sweat gland 'apocrine sweat gland' SubClassOf http://purl.obolibrary.org/obo/UBERON_0008974 'apocrine sweat gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/MONDO_0018425 Huntington disease-like syndrome due to C9ORF72 expansions 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018438 eosinophilic gastrointestinal disease 'eosinophilic gastrointestinal disease' SubClassOf 'bearer_of' some 'rare' 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_0043424 digestive system infectious disorder 'digestive system infectious disorder' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'alimentary part of gastrointestinal system') http://purl.obolibrary.org/obo/MONDO_0018459 isolated glycerol kinase deficiency 'isolated glycerol kinase deficiency' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated glycerol kinase deficiency' EquivalentTo 'inborn glycerol kinase deficiency' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0018470 renal agenesis 'renal agenesis' SubClassOf 'disease causes feature' some 'Potter sequence' 'renal agenesis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018469 pulmonary non-tuberculous mycobacterial infection 'pulmonary non-tuberculous mycobacterial infection' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell carcinoma 'hereditary clear cell renal cell carcinoma' EquivalentTo 'clear cell renal carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018493 malignant hyperthermia of anesthesia 'malignant hyperthermia of anesthesia' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0002047 http://purl.obolibrary.org/obo/HP_0012098 Edema of the dorsum of feet 'Edema of the dorsum of feet' SubClassOf 'Abnormality of metabolism/homeostasis' 'Edema of the dorsum of feet' SubClassOf http://purl.obolibrary.org/obo/HP_0000969 http://purl.obolibrary.org/obo/UBERON_0000426 extravillous trophoblast 'extravillous trophoblast' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000088 http://purl.obolibrary.org/obo/UBERON_0000423 eccrine sweat gland 'eccrine sweat gland' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/MONDO_0008903 lung cancer 'lung cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0008907 PMM2-congenital disorder of glycosylation 'PMM2-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'bearer_of' some 'rare' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Hypergonadotropic hypogonadism' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001644 http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0008917 heart defects-limb shortening syndrome 'heart defects-limb shortening syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008948 cerebrotendinous xanthomatosis 'cerebrotendinous xanthomatosis' SubClassOf 'cerebellar degeneration' http://purl.obolibrary.org/obo/MONDO_0008947 bilateral striopallidodentate calcinosis 'bilateral striopallidodentate calcinosis' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008954 peroxisome biogenesis disorder 2A (Zellweger) 'peroxisome biogenesis disorder 2A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0008953 peroxisome biogenesis disorder 1A (Zellweger) 'peroxisome biogenesis disorder 1A (Zellweger)' SubClassOf 'bearer_of' some 'classic presentation' http://purl.obolibrary.org/obo/MONDO_0008966 Aagenaes syndrome 'Aagenaes syndrome' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002613 iatrogenic Kaposi's sarcoma 'iatrogenic Kaposi's sarcoma' EquivalentTo 'Kaposi's sarcoma' and ('bearer_of' some 'iatrogenic') http://www.ebi.ac.uk/efo/EFO_0002612 human herpesvirus 8 infection 'human herpesvirus 8 infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'Human herpesvirus 8' 'human herpesvirus 8 infection' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Human herpesvirus 8') http://purl.obolibrary.org/obo/MONDO_0018307 neurodegeneration with brain iron accumulation 'neurodegeneration with brain iron accumulation' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002617 metastatic melanoma 'metastatic melanoma' SubClassOf 'disease has feature' some 'metastatic neoplasm' http://purl.obolibrary.org/obo/MONDO_0018309 Hirschsprung disease 'Hirschsprung disease' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002618 pancreatic carcinoma 'pancreatic carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000017) http://purl.obolibrary.org/obo/MONDO_0018305 chronic granulomatous disease 'chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0002376 'chronic granulomatous disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0043020 http://purl.obolibrary.org/obo/MONDO_0008993 cleft palate-stapes fixation-oligodontia syndrome 'cleft palate-stapes fixation-oligodontia syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002608 AIDS dementia 'AIDS dementia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018317 growth retardation-mild developmental delay-chronic hepatitis syndrome 'growth retardation-mild developmental delay-chronic hepatitis syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002609 juvenile idiopathic arthritis 'juvenile idiopathic arthritis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018328 homozygous familial hypercholesterolemia 'homozygous familial hypercholesterolemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018327 glomus tumor 'glomus tumor' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002622 rotavirus infection 'rotavirus infection' SubClassOf 'digestive system disease' 'rotavirus infection' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system' 'rotavirus infection' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0002621 prostate intraepithelial neoplasia 'prostate intraepithelial neoplasia' EquivalentTo 'intraepithelial neoplasia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://www.ebi.ac.uk/efo/EFO_0002623 septic peritonitis 'septic peritonitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system' 'septic peritonitis' SubClassOf 'disease arises from feature' some 'Sepsis' 'septic peritonitis' EquivalentTo 'peritonitis' and ('disease arises from feature' some 'Sepsis') http://www.ebi.ac.uk/efo/EFO_0002626 thymus neoplasm 'thymus neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://purl.obolibrary.org/obo/MONDO_0018330 mucinous adenocarcinoma of the appendix 'mucinous adenocarcinoma of the appendix' EquivalentTo 'mucinous carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') http://purl.obolibrary.org/obo/MONDO_0018346 ferro-cerebro-cutaneous syndrome 'ferro-cerebro-cutaneous syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018352 squamous cell carcinoma of penis 'squamous cell carcinoma of penis' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'penis') http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin 'osteonecrosis of genetic origin' EquivalentTo 'osteonecrosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/HP_0012317 Sacroiliac arthritis 'Sacroiliac arthritis' SubClassOf http://purl.obolibrary.org/obo/HP_0001369 http://www.orpha.net/ORDO/Orphanet_324422 ALG13-CDG 'ALG13-CDG' SubClassOf 'inborn errors of metabolism' 'ALG13-CDG' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/HP_0002938 Lumbar hyperlordosis 'Lumbar hyperlordosis' SubClassOf 'Abnormality of the vertebral column' 'Lumbar hyperlordosis' SubClassOf http://purl.obolibrary.org/obo/HP_0003307 http://purl.obolibrary.org/obo/MONDO_0008816 Chiari malformation type II 'Chiari malformation type II' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0008815 argininosuccinic aciduria 'argininosuccinic aciduria' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0008818 arterial tortuosity syndrome 'arterial tortuosity syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008846 atransferrinemia 'atransferrinemia' SubClassOf 'disease arises from feature' some 'Abnormality of iron homeostasis' http://purl.obolibrary.org/obo/MONDO_0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 'ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia' SubClassOf 'disease has feature' some 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0008857 Beemer-Ertbruggen syndrome 'Beemer-Ertbruggen syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008850 Cooper-Jabs syndrome 'Cooper-Jabs syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002510 serous cystadenofibroma 'serous cystadenofibroma' SubClassOf 'ovarian disease' 'serous cystadenofibroma' SubClassOf 'has_disease_location' some 'ovary' http://www.ebi.ac.uk/efo/EFO_0002511 simple cystadenoma 'simple cystadenoma' EquivalentTo 'cystadenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0018201 extragonadal germ cell tumor 'extragonadal germ cell tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018202 gonadal germ cell tumor 'gonadal germ cell tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008898 camptodactyly syndrome, Guadalajara type 1 'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008895 hereditary arterial and articular multiple calcification syndrome 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008891 riboflavin transporter deficiency 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'Sensorineural hearing impairment' http://www.ebi.ac.uk/efo/EFO_0002502 benign insulitis 'benign insulitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'islet of Langerhans' http://purl.obolibrary.org/obo/MONDO_0018215 paraneoplastic neurologic syndrome 'paraneoplastic neurologic syndrome' SubClassOf 'bearer_of' some 'rare' 'paraneoplastic neurologic syndrome' EquivalentTo 'paraneoplastic syndrome' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nervous system') http://purl.obolibrary.org/obo/MONDO_0018212 familial cervical artery dissection 'familial cervical artery dissection' SubClassOf 'bearer_of' some 'rare' 'familial cervical artery dissection' EquivalentTo 'cervical artery dissection' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis 'dysostosis' SubClassOf 'bearer_of' some 'rare' 'dysostosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0001503 'dysostosis' EquivalentTo 'bone development disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0001503) http://purl.obolibrary.org/obo/MONDO_0018230 skeletal dysplasia 'skeletal dysplasia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002431 tumour of cranial and spinal nerves 'tumour of cranial and spinal nerves' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peripheral nervous system') http://www.ebi.ac.uk/efo/EFO_0002430 primary myelofibrosis 'primary myelofibrosis' SubClassOf 'bearer_of' some 'acquired' 'primary myelofibrosis' SubClassOf 'inherited aplastic anemia' 'primary myelofibrosis' SubClassOf 'hereditary disorder of connective tissue' 'primary myelofibrosis' SubClassOf 'aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0043218 neurovascular disorder 'neurovascular disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vasculature') http://purl.obolibrary.org/obo/MONDO_0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 'intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018242 autoimmune hypoparathyroidism 'autoimmune hypoparathyroidism' SubClassOf 'bearer_of' some 'rare' 'autoimmune hypoparathyroidism' EquivalentTo 'hypoparathyroidism' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0002960) http://www.ebi.ac.uk/efo/EFO_0002429 polycythemia vera 'polycythemia vera' SubClassOf 'hereditary disorder of connective tissue' 'polycythemia vera' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0018257 familial syringomyelia 'familial syringomyelia' EquivalentTo 'syringomyelia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018274 GM3 synthase deficiency 'GM3 synthase deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018276 muscular dystrophy-dystroglycanopathy 'muscular dystrophy-dystroglycanopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'protein glycosylation' http://www.ebi.ac.uk/efo/EFO_0002461 skeletal system disease 'skeletal system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'skeletal system' 'skeletal system disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'skeletal system') http://www.ebi.ac.uk/efo/EFO_0002498 aggressive insulitis 'aggressive insulitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'islet of Langerhans' http://purl.obolibrary.org/obo/MONDO_0043243 leukoplakia 'leukoplakia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mucosa' http://www.orpha.net/ORDO/Orphanet_79189 Peroxisome biogenesis disorder-Zellweger syndrome spectrum 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'inborn errors of metabolism' 'Peroxisome biogenesis disorder-Zellweger syndrome spectrum' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_79188 Peroxisomal beta-oxidation disorder 'Peroxisomal beta-oxidation disorder' SubClassOf 'inborn errors of metabolism' 'Peroxisomal beta-oxidation disorder' SubClassOf 'metabolic disease' 'Peroxisomal beta-oxidation disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008707 acro-renal-mandibular syndrome 'acro-renal-mandibular syndrome' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_79161 Disorder of carbohydrate metabolism 'Disorder of carbohydrate metabolism' SubClassOf 'inborn errors of metabolism' 'Disorder of carbohydrate metabolism' SubClassOf 'genetic disorder' 'Disorder of carbohydrate metabolism' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0008713 acrodermatitis enteropathica 'acrodermatitis enteropathica' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'congenital' 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 'bearer_of' some 'congenital' 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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008734 adrenocortical carcinoma, hereditary 'adrenocortical carcinoma, hereditary' EquivalentTo 'adrenal cortex carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0008733 familial glucocorticoid deficiency 'familial glucocorticoid deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'bearer_of' some 'congenital' 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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome 'alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008741 PAGOD syndrome 'PAGOD syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008756 alopecia - intellectual disability syndrome 'alopecia - intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008753 alkaptonuria 'alkaptonuria' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008750 microcephaly-albinism-digital anomalies syndrome 'microcephaly-albinism-digital anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome 'Alstrom syndrome' SubClassOf 'bearer_of' some 'rare' 'Alstrom syndrome' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001644 http://purl.obolibrary.org/obo/MONDO_0008771 amelogenesis imperfecta type 1G 'amelogenesis imperfecta type 1G' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008788 IRIDA syndrome 'IRIDA syndrome' SubClassOf 'disease arises from feature' some 'Abnormality of iron homeostasis' http://www.ebi.ac.uk/efo/EFO_0002890 renal carcinoma 'renal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://purl.obolibrary.org/obo/MONDO_0008787 microcytic anemia with liver iron overload 'microcytic anemia with liver iron overload' SubClassOf 'disease arises from feature' some 'Abnormality of iron homeostasis' http://www.ebi.ac.uk/efo/EFO_0002893 choriocarcinoma 'choriocarcinoma' SubClassOf 'bearer_of' some 'rare' 'choriocarcinoma' SubClassOf 'female reproductive system disease' 'choriocarcinoma' SubClassOf 'germ cell tumor' 'choriocarcinoma' SubClassOf 'female reproductive system neoplasm' 'choriocarcinoma' SubClassOf 'germ cell tumor' http://www.ebi.ac.uk/efo/EFO_0002892 thyroid carcinoma 'thyroid carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') http://www.ebi.ac.uk/efo/EFO_0002894 amelanotic skin melanoma 'amelanotic skin melanoma' EquivalentTo 'amelanotic melanoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0018109 fulminant viral hepatitis 'fulminant viral hepatitis' SubClassOf 'bearer_of' some 'rare' 'fulminant viral hepatitis' SubClassOf 'disease has inflammation site' some 'liver' http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria 'hereditary xanthinuria' SubClassOf 'xanthinuria' 'hereditary xanthinuria' EquivalentTo 'xanthinuria' and ('bearer_of' some 'inherited') 'hereditary xanthinuria' SubClassOf 'xanthinuria' http://purl.obolibrary.org/obo/MONDO_0018105 Wolfram syndrome 'Wolfram syndrome' SubClassOf 'disease has feature' some 'type 1 diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0018102 corneal dystrophy 'corneal dystrophy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008795 aniridia-cerebellar ataxia-intellectual disability syndrome 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008792 familial angiolipomatosis 'familial angiolipomatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia 'galactosemia' SubClassOf 'disease has feature' some 'metabolic disease' 'galactosemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018115 epidermal nevus syndrome 'epidermal nevus syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0000933 chordate pharyngeal muscle 'chordate pharyngeal muscle' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005090 http://purl.obolibrary.org/obo/MONDO_0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 'intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0000947 aorta 'aorta' SubClassOf 'blood vessel' 'aorta' SubClassOf http://purl.obolibrary.org/obo/UBERON_0013768 http://purl.obolibrary.org/obo/UBERON_0000945 stomach 'stomach' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0000949 endocrine system 'endocrine system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 http://purl.obolibrary.org/obo/UBERON_0000948 heart 'heart' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0015410 http://purl.obolibrary.org/obo/MONDO_0018150 Gaucher disease 'Gaucher disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018149 GM1 gangliosidosis 'GM1 gangliosidosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018160 hereditary retinoblastoma 'hereditary retinoblastoma' EquivalentTo 'retinoblastoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0000966 retina 'retina' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0019207 http://purl.obolibrary.org/obo/MONDO_0018171 malignant germ cell tumor of ovary 'malignant germ cell tumor of ovary' EquivalentTo 'Malignant Germ Cell Tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome 'idiopathic nephrotic syndrome' EquivalentTo 'nephrotic syndrome' and ('bearer_of' some 'idiopathic') 'idiopathic nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'idiopathic nephrotic syndrome' SubClassOf 'nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0018168 primary non-essential cutis verticis gyrata 'primary non-essential cutis verticis gyrata' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018178 intestinal lymphangiectasia 'intestinal lymphangiectasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018174 hereditary glaucoma 'hereditary glaucoma' EquivalentTo 'glaucoma' and ('bearer_of' some 'inherited') 'hereditary glaucoma' SubClassOf 'glaucoma' 'hereditary glaucoma' SubClassOf 'glaucoma' http://purl.obolibrary.org/obo/UBERON_0000976 humerus 'humerus' SubClassOf 'part of' some 'skeletal system' 'humerus' SubClassOf 'part of' some 'anatomical system' 'humerus' SubClassOf http://purl.obolibrary.org/obo/UBERON_0002495 http://purl.obolibrary.org/obo/UBERON_0000979 tibia 'tibia' SubClassOf 'part of' some 'anatomical system' 'tibia' SubClassOf 'hindlimb bone' 'tibia' SubClassOf 'part of' some 'appendicular skeleton' 'tibia' SubClassOf 'part of' some 'skeletal system' 'tibia' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003608 http://purl.obolibrary.org/obo/UBERON_0000977 pleura 'pleura' SubClassOf 'anatomical structure' 'pleura' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000042 http://www.orpha.net/ORDO/Orphanet_79224 Disorder of purine or pyrimidine metabolism 'Disorder of purine or pyrimidine metabolism' SubClassOf 'inborn errors of metabolism' 'Disorder of purine or pyrimidine metabolism' SubClassOf 'metabolic disease' 'Disorder of purine or pyrimidine metabolism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/UBERON_0000970 eye 'eye' SubClassOf 'part of' some 'anatomical system' 'eye' SubClassOf 'part of' some 'sensory system' 'eye' SubClassOf 'anatomical structure' 'eye' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002104 'eye' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000020 http://purl.obolibrary.org/obo/UBERON_0000989 penis 'penis' SubClassOf 'anatomical structure' 'penis' SubClassOf 'part of' some 'anatomical system' 'penis' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003135 http://www.orpha.net/ORDO/Orphanet_79214 Disorder of biogenic amine metabolism and transport 'Disorder of biogenic amine metabolism and transport' SubClassOf 'inborn errors of metabolism' 'Disorder of biogenic amine metabolism and transport' SubClassOf 'metabolic disease' 'Disorder of biogenic amine metabolism and transport' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/UBERON_0000981 femur 'femur' SubClassOf 'part of' some 'skeletal system' 'femur' SubClassOf 'part of' some 'appendicular skeleton' 'femur' SubClassOf 'hindlimb bone' 'femur' SubClassOf 'part of' some 'anatomical system' 'femur' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003608 http://purl.obolibrary.org/obo/UBERON_0000980 trochanter 'trochanter' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002495 http://purl.obolibrary.org/obo/UBERON_0000999 ejaculatory duct 'ejaculatory duct' SubClassOf 'anatomical structure' 'ejaculatory duct' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000058 http://purl.obolibrary.org/obo/UBERON_0000990 reproductive system 'reproductive system' DisjointWith http://purl.obolibrary.org/obo/UBERON_0002330 http://www.orpha.net/ORDO/Orphanet_79200 Disorder of energy metabolism 'Disorder of energy metabolism' SubClassOf 'inborn errors of metabolism' 'Disorder of energy metabolism' SubClassOf 'genetic disorder' 'Disorder of energy metabolism' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/UBERON_0000992 ovary 'ovary' SubClassOf 'part of' some 'anatomical system' 'ovary' SubClassOf 'part of' some 'reproductive system' 'ovary' SubClassOf http://purl.obolibrary.org/obo/UBERON_0003134 http://www.orpha.net/ORDO/Orphanet_79062 Disorder of amino acid and other organic acid metabolism 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'inborn errors of metabolism' 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'genetic disorder' 'Disorder of amino acid and other organic acid metabolism' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/HP_0012532 Chronic pain 'Chronic pain' SubClassOf 'Constitutional symptom' 'Chronic pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/MONDO_0008627 ureter cancer 'ureter cancer' SubClassOf 'kidney cancer' 'ureter cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ureter') http://www.orpha.net/ORDO/Orphanet_79084 Familial partial lipodystrophy, Köbberling type 'Familial partial lipodystrophy, Köbberling type' SubClassOf 'hereditary lipodystrophy' 'Familial partial lipodystrophy, Köbberling type' SubClassOf 'lipodystrophy' http://www.orpha.net/ORDO/Orphanet_79085 Familial partial lipodystrophy due to AKT2 mutations 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'hereditary lipodystrophy' 'Familial partial lipodystrophy due to AKT2 mutations' SubClassOf 'lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0008638 varicose disease 'varicose disease' EquivalentTo 'disease' and ('disease arises from feature' some 'Varicose veins') 'varicose disease' SubClassOf 'disease arises from feature' some 'Varicose veins' 'varicose disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'vein' http://purl.obolibrary.org/obo/MONDO_0008648 ventricular tachycardia, familial 'ventricular tachycardia, familial' EquivalentTo 'ventricular tachycardia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'syndromic disease' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'disease has feature' some 'inherited retinal dystrophy' 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700256 http://purl.obolibrary.org/obo/MONDO_0008654 spinocerebellar ataxia 27A 'spinocerebellar ataxia 27A' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'syndromic disease' 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'bearer_of' some 'rare' 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease 'von Hippel-Lindau disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008678 Williams syndrome 'Williams syndrome' SubClassOf 'disease has feature' some 'supravalvular aortic stenosis' http://purl.obolibrary.org/obo/MONDO_0008684 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'disease has feature' some 'epilepsy' http://purl.obolibrary.org/obo/MONDO_0008682 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018007 mosaic genome-wide paternal uniparental disomy 'mosaic genome-wide paternal uniparental disomy' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0018001 inverse Klippel-Trenaunay syndrome 'inverse Klippel-Trenaunay syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018017 goblet cell carcinoma 'goblet cell carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'goblet cell') 'goblet cell carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'goblet cell' http://purl.obolibrary.org/obo/MONDO_0018015 intermittent hydrarthrosis 'intermittent hydrarthrosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018029 congenital factor XIII deficiency 'congenital factor XIII deficiency' SubClassOf 'factor XIII deficiency' 'congenital factor XIII deficiency' SubClassOf 'factor XIII deficiency' 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 'hereditary disorder of connective tissue' 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0018044 idiopathic hypersomnia 'idiopathic hypersomnia' EquivalentTo 'hypersomnia' and ('bearer_of' some 'idiopathic') 'idiopathic hypersomnia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018054 familial atrial fibrillation 'familial atrial fibrillation' EquivalentTo 'atrial fibrillation' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018070 familial multiple fibrofolliculoma 'familial multiple fibrofolliculoma' SubClassOf 'cancer or benign tumor' 'familial multiple fibrofolliculoma' SubClassOf 'benign neoplasm of skin' 'familial multiple fibrofolliculoma' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0018065 isolated trigonocephaly 'isolated trigonocephaly' EquivalentTo 'trigonocephaly' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0018066 trisomy X 'trisomy X' SubClassOf 'syndromic disease' 'trisomy X' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0043003 familial acanthosis nigricans 'familial acanthosis nigricans' EquivalentTo 'acanthosis nigricans' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018079 thymic epithelial neoplasm 'thymic epithelial neoplasm' EquivalentTo 'epithelial neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis 'tuberculosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018087 viral hemorrhagic fever 'viral hemorrhagic fever' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/GO_0002524 hypersensitivity 'hypersensitivity' SubClassOf http://purl.obolibrary.org/obo/GO_0002376 http://purl.obolibrary.org/obo/UBERON_0010230 eyeball of camera-type eye 'eyeball of camera-type eye' SubClassOf 'part of' some 'anatomical system' 'eyeball of camera-type eye' SubClassOf 'part of' some 'sensory system' 'eyeball of camera-type eye' SubClassOf 'anatomical structure' 'eyeball of camera-type eye' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000019 'eyeball of camera-type eye' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000020 http://purl.obolibrary.org/obo/HP_0012899 Handgrip myotonia 'Handgrip myotonia' SubClassOf 'Abnormal muscle physiology' 'Handgrip myotonia' SubClassOf http://purl.obolibrary.org/obo/HP_0002486 http://purl.obolibrary.org/obo/MONDO_0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014367 Aicardi-Goutieres syndrome 7 'Aicardi-Goutieres syndrome 7' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700262 http://purl.obolibrary.org/obo/MONDO_0014375 congenital diarrhea 7 with exudative enteropathy 'congenital diarrhea 7 with exudative enteropathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014405 STING-associated vasculopathy with onset in infancy 'STING-associated vasculopathy with onset in infancy' SubClassOf 'autoinflammatory syndrome' 'STING-associated vasculopathy with onset in infancy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 http://www.orpha.net/ORDO/Orphanet_99001 Butterfly-shaped pigment dystrophy 'Butterfly-shaped pigment dystrophy' SubClassOf 'Retinal dystrophy' 'Butterfly-shaped pigment dystrophy' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_99015 Spastic paraplegia type 2 'Spastic paraplegia type 2' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_99014 X-linked Charcot-Marie-Tooth disease type 5 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0004884 eye degenerative disorder 'eye degenerative disorder' EquivalentTo 'neurodegenerative disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyeball of camera-type eye') http://purl.obolibrary.org/obo/MONDO_0004885 choroidal sclerosis 'choroidal sclerosis' EquivalentTo 'neurodegenerative disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001776) http://purl.obolibrary.org/obo/MONDO_0004880 bowel dysfunction 'bowel dysfunction' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/UBERON_0004907 'bowel dysfunction' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/UBERON_0004907) http://purl.obolibrary.org/obo/MONDO_0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014225 hemochromatosis type 5 'hemochromatosis type 5' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014249 multiple fibroadenoma of the breast 'multiple fibroadenoma of the breast' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0014250 familial hyperprolactinemia 'familial hyperprolactinemia' EquivalentTo 'hyperprolactinemia' and ('bearer_of' some 'inherited') 'familial hyperprolactinemia' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0014278 immunodeficiency 18 'immunodeficiency 18' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' 'immunodeficiency 18' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' 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 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' 'immunodeficiency 19' SubClassOf 'T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta' http://purl.obolibrary.org/obo/MONDO_0004917 internal hordeolum 'internal hordeolum' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001818 'internal hordeolum' EquivalentTo 'hordeolum' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001818) http://purl.obolibrary.org/obo/MONDO_0004928 lymph node disorder 'lymph node disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lymph node') 'lymph node disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'lymph node' http://purl.obolibrary.org/obo/MONDO_0004933 hypoplastic left heart syndrome 'hypoplastic left heart syndrome' SubClassOf 'cardiogenetic disease' http://purl.obolibrary.org/obo/MONDO_0004943 orbit sarcoma 'orbit sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001697) http://purl.obolibrary.org/obo/MONDO_0004951 susceptibility to HIV infection 'susceptibility to HIV infection' SubClassOf 'disease has feature' some 'AIDS' http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis 'amyotrophic lateral sclerosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0004986 urinary bladder carcinoma 'urinary bladder carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') http://purl.obolibrary.org/obo/MONDO_0004985 bipolar disorder 'bipolar disorder' SubClassOf 'disease has feature' some 'recurrent hypersomnia' http://purl.obolibrary.org/obo/MONDO_0014300 proximal myopathy with extrapyramidal signs 'proximal myopathy with extrapyramidal signs' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014306 vasculitis due to ADA2 deficiency 'vasculitis due to ADA2 deficiency' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0004789 cholangitis 'cholangitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001173) 'cholangitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001173 http://purl.obolibrary.org/obo/MONDO_0014119 intellectual disability-strabismus syndrome 'intellectual disability-strabismus syndrome' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Lissencephaly' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'hereditary skin disorder' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'Cerebral malformation with epilepsy' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0004804 dacryoadenitis 'dacryoadenitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'lacrimal gland') 'dacryoadenitis' SubClassOf 'disease has inflammation site' some 'lacrimal gland' http://purl.obolibrary.org/obo/MONDO_0004805 leukocyte disorder 'leukocyte disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'leukocyte') 'leukocyte disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'leukocyte' http://purl.obolibrary.org/obo/MONDO_0004821 nasopharyngeal disorder 'nasopharyngeal disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nasopharynx') 'nasopharyngeal disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'nasopharynx' http://purl.obolibrary.org/obo/MONDO_0004828 lower urinary tract calculus 'lower urinary tract calculus' EquivalentTo 'urolithiasis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001556) 'lower urinary tract calculus' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001556 http://purl.obolibrary.org/obo/MONDO_0004830 fasciitis 'fasciitis' SubClassOf 'musculoskeletal system disease' 'fasciitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0008982) 'fasciitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0008982 'fasciitis' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0004857 tendinitis 'tendinitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000043) 'tendinitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000043 'tendinitis' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0004867 upper respiratory tract disorder 'upper respiratory tract disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001557 'upper respiratory tract disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001557) http://purl.obolibrary.org/obo/MONDO_0004860 vitreous disorder 'vitreous disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001797 'vitreous disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001797) http://purl.obolibrary.org/obo/MONDO_0004869 pelvic varices 'pelvic varices' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pelvic region of trunk' 'pelvic varices' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/UBERON_0036268 'pelvic varices' EquivalentTo 'varicose disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pelvic region of trunk') http://purl.obolibrary.org/obo/MONDO_0004647 in situ carcinoma 'in situ carcinoma' SubClassOf 'bearer_of' some 'tumor grade 3, general grading system' http://purl.obolibrary.org/obo/MONDO_0004641 skin carcinoma in situ 'skin carcinoma in situ' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0004657 disseminated chorioretinitis 'disseminated chorioretinitis' EquivalentTo 'chorioretinitis' and ('bearer_of' some 'disseminated') 'disseminated chorioretinitis' SubClassOf 'bearer_of' some 'disseminated' http://purl.obolibrary.org/obo/MONDO_0004658 breast carcinoma in situ 'breast carcinoma in situ' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') http://purl.obolibrary.org/obo/MONDO_0004669 salivary gland cancer 'salivary gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://purl.obolibrary.org/obo/MONDO_0004663 colon carcinoma in situ 'colon carcinoma in situ' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0004671 penis carcinoma in situ 'penis carcinoma in situ' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'penis') http://purl.obolibrary.org/obo/MONDO_0004670 lupus erythematosus 'lupus erythematosus' SubClassOf 'autoimmune disorder of musculoskeletal system' http://purl.obolibrary.org/obo/MONDO_0004685 Waldeyer's ring cancer 'Waldeyer's ring cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001735) 'Waldeyer's ring cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001735 http://purl.obolibrary.org/obo/MONDO_0004697 esophageal leukoplakia 'esophageal leukoplakia' EquivalentTo 'leukoplakia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://purl.obolibrary.org/obo/MONDO_0004699 gastrointestinal lymphoma 'gastrointestinal lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'digestive system') http://purl.obolibrary.org/obo/MONDO_0004698 intestine carcinoma in situ 'intestine carcinoma in situ' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'intestine') http://purl.obolibrary.org/obo/MONDO_0004695 liver lymphoma 'liver lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://www.orpha.net/ORDO/Orphanet_271861 Familial transthyretin-related amyloidosis 'Familial transthyretin-related amyloidosis' SubClassOf 'hereditary amyloidosis' 'Familial transthyretin-related amyloidosis' SubClassOf 'amyloidosis' http://www.orpha.net/ORDO/Orphanet_271841 Genetic cardiac tumor 'Genetic cardiac tumor' SubClassOf 'cardiogenetic disease' http://www.orpha.net/ORDO/Orphanet_99095 Gerbode defect 'Gerbode defect' SubClassOf 'cardiogenetic disease' 'Gerbode defect' SubClassOf 'heart disease' 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 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_99097 Single ventricular septal defect 'Single ventricular septal defect' SubClassOf 'cardiogenetic disease' 'Single ventricular septal defect' SubClassOf 'heart disease' http://www.orpha.net/ORDO/Orphanet_99096 Multiple ventricular septal defects 'Multiple ventricular septal defects' SubClassOf 'cardiogenetic disease' 'Multiple ventricular septal defects' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0014044 dysmorphism-conductive hearing loss-heart defect syndrome 'dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_26106 Familial gastric cancer 'Familial gastric cancer' SubClassOf 'hereditary diffuse gastric adenocarcinoma' 'Familial gastric cancer' SubClassOf 'diffuse gastric adenocarcinoma' http://www.orpha.net/ORDO/Orphanet_41751 Bietti crystalline dystrophy 'Bietti crystalline dystrophy' SubClassOf 'Retinal dystrophy' 'Bietti crystalline dystrophy' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0014094 severe congenital hypochromic anemia with ringed sideroblasts 'severe congenital hypochromic anemia with ringed sideroblasts' SubClassOf 'disease arises from feature' some 'Abnormality of iron homeostasis' http://www.ebi.ac.uk/efo/EFO_0007940 chronic venous insufficiency 'chronic venous insufficiency' SubClassOf 'venous insufficiency' 'chronic venous insufficiency' SubClassOf 'chronic disease' http://purl.obolibrary.org/obo/MONDO_0004700 parotid gland cancer 'parotid gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parotid gland') http://purl.obolibrary.org/obo/MONDO_0004705 liver solitary fibrous tumor 'liver solitary fibrous tumor' EquivalentTo 'solitary fibrous tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://purl.obolibrary.org/obo/MONDO_0004710 uterus carcinoma in situ 'uterus carcinoma in situ' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterus') http://purl.obolibrary.org/obo/MONDO_0004725 rectum carcinoma in situ 'rectum carcinoma in situ' EquivalentTo 'in situ carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://purl.obolibrary.org/obo/MONDO_0004724 submandibular gland cancer 'submandibular gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'submandibular gland') http://purl.obolibrary.org/obo/MONDO_0004727 vestibule of mouth cancer 'vestibule of mouth cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000166 'vestibule of mouth cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000166) http://purl.obolibrary.org/obo/MONDO_0004736 inborn disorder of amino acid metabolism 'inborn disorder of amino acid metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0004737 homocystinuria 'homocystinuria' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0004746 myopathy of extraocular muscle 'myopathy of extraocular muscle' EquivalentTo 'myopathy' and (http://purl.obolibrary.org/obo/RO_0004026 some 'extra-ocular muscle') 'myopathy of extraocular muscle' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'extra-ocular muscle' http://purl.obolibrary.org/obo/MONDO_0004748 lip disorder 'lip disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001833) 'lip disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001833 http://purl.obolibrary.org/obo/MONDO_0004756 nasal cavity neoplasm 'nasal cavity neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nasal cavity') http://purl.obolibrary.org/obo/MONDO_0004527 congenital granular cell tumor 'congenital granular cell tumor' EquivalentTo 'Granular Cell Tumor' and ('bearer_of' some 'congenital') http://purl.obolibrary.org/obo/MONDO_0004526 mixed endometrial stromal and smooth muscle tumor 'mixed endometrial stromal and smooth muscle tumor' EquivalentTo 'Soft Tissue Neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://www.ebi.ac.uk/efo/EFO_0003086 kidney disease 'kidney disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'kidney' 'kidney disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://purl.obolibrary.org/obo/MONDO_0004528 lymph node palisaded myofibroblastoma 'lymph node palisaded myofibroblastoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001542 'lymph node palisaded myofibroblastoma' EquivalentTo 'myofibroblastoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001542) http://purl.obolibrary.org/obo/MONDO_0004532 auditory system cancer 'auditory system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0016490) http://www.ebi.ac.uk/efo/EFO_0003094 ganglioglioma 'ganglioglioma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/MONDO_0004557 congenital fibrosarcoma 'congenital fibrosarcoma' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0003096 Pick disease 'Pick disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'frontal cortex' 'Pick disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'temporal lobe' 'Pick disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'telencephalon' http://purl.obolibrary.org/obo/MONDO_0004573 ariboflavinosis 'ariboflavinosis' SubClassOf 'inborn errors of metabolism' 'ariboflavinosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0004587 hereditary night blindness 'hereditary night blindness' EquivalentTo 'night blindness' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0004593 Bartholin duct cyst 'Bartholin duct cyst' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000460 http://www.ebi.ac.uk/efo/EFO_0003016 collecting duct carcinoma 'collecting duct carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'collecting duct of renal tubule' 'collecting duct carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'collecting duct of renal tubule') http://www.ebi.ac.uk/efo/EFO_0003017 transitional cell carcinoma of kidney 'transitional cell carcinoma of kidney' EquivalentTo 'Transitional Cell Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal pelvis') http://purl.obolibrary.org/obo/MONDO_0004603 collagenopathy 'collagenopathy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005581) 'collagenopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005581 http://www.ebi.ac.uk/efo/EFO_0003047 hepatitis C virus infection 'hepatitis C virus infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'Hepatitis C virus' http://www.ebi.ac.uk/efo/EFO_0003063 polymyositis 'polymyositis' SubClassOf 'acquired peripheral neuropathy' 'polymyositis' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0004627 duodenitis 'duodenitis' SubClassOf 'disease has inflammation site' some 'duodenum' 'duodenitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'duodenum') http://www.ebi.ac.uk/efo/EFO_0003050 large cell lung carcinoma 'large cell lung carcinoma' EquivalentTo 'large cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0004634 vein disorder 'vein disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vein') 'vein disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'vein' 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_0004427 supraglottis neoplasm 'supraglottis neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036263 'supraglottis neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036263) http://purl.obolibrary.org/obo/MONDO_0004435 liver fibrosarcoma 'liver fibrosarcoma' EquivalentTo 'fibrosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://purl.obolibrary.org/obo/MONDO_0004450 carotid artery occlusion 'carotid artery occlusion' EquivalentTo 'occlusion precerebral artery' and (http://purl.obolibrary.org/obo/RO_0004026 some 'carotid artery segment') http://purl.obolibrary.org/obo/UBERON_0008904 neuromast 'neuromast' SubClassOf 'part of' some 'sensory system' 'neuromast' SubClassOf 'part of' some 'anatomical system' 'neuromast' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000020 http://www.orpha.net/ORDO/Orphanet_90103 Charcot-Marie-Tooth disease - deafness - intellectual disability 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'hereditary motor neuron disease' 'Charcot-Marie-Tooth disease - deafness - intellectual disability' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_90119 Axonal Charcot-Marie-Tooth disease with acrodystrophy 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'hereditary motor neuron disease' 'Axonal Charcot-Marie-Tooth disease with acrodystrophy' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0018938 mucopolysaccharidosis type 4 'mucopolysaccharidosis type 4' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018937 mucopolysaccharidosis type 3 'mucopolysaccharidosis type 3' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018933 Mazabraud syndrome 'Mazabraud syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/GO_0090331 negative regulation of platelet aggregation 'negative regulation of platelet aggregation' SubClassOf 'negative regulation of wound healing' 'negative regulation of platelet aggregation' SubClassOf http://purl.obolibrary.org/obo/GO_0030195 http://purl.obolibrary.org/obo/MONDO_0018956 idiopathic bronchiectasis 'idiopathic bronchiectasis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018954 Loeys-Dietz syndrome 'Loeys-Dietz syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018963 hereditary methemoglobinemia 'hereditary methemoglobinemia' EquivalentTo 'methemoglobinemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018960 congenital primary megaureter 'congenital primary megaureter' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018961 familial melanoma 'familial melanoma' EquivalentTo 'melanoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0004331 bladder urachal adenocarcinoma 'bladder urachal adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002068) http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 'neurofibromatosis type 1' SubClassOf 'disease has feature' some 'hyperpigmentation of the skin' 'neurofibromatosis type 1' SubClassOf 'rasopathy' 'neurofibromatosis type 1' SubClassOf 'rasopathy' http://purl.obolibrary.org/obo/MONDO_0018988 iridocorneal endothelial syndrome 'iridocorneal endothelial syndrome' SubClassOf 'disease has feature' some 'glaucoma' 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_0004359 delusional disorder 'delusional disorder' SubClassOf 'psychosis' 'delusional disorder' SubClassOf 'psychosis' http://purl.obolibrary.org/obo/MONDO_0004357 carcinoma of supraglottis 'carcinoma of supraglottis' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036263) 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_0004386 uterine corpus atypical polypoid adenomyoma 'uterine corpus atypical polypoid adenomyoma' EquivalentTo 'atypical polypoid adenomyoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0004380 dendritic cell sarcoma 'dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'dendritic cell' 'dendritic cell sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'dendritic cell') http://purl.obolibrary.org/obo/MONDO_0018801 congenital bilateral absence of vas deferens 'congenital bilateral absence of vas deferens' SubClassOf 'bearer_of' some 'rare' 'congenital bilateral absence of vas deferens' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018814 non-SCID combined immunodeficiency 'severe combined immunodeficiency' DisjointWith 'non-SCID combined immunodeficiency' 'severe combined immunodeficiency' DisjointWith 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0018829 familial schizencephaly 'familial schizencephaly' EquivalentTo 'schizencephaly' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' EquivalentTo 'chilblain lupus' and ('bearer_of' some 'inherited') 'familial chilblain lupus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018839 acquired schizencephaly 'acquired schizencephaly' EquivalentTo 'schizencephaly' and ('bearer_of' some 'acquired') 'acquired schizencephaly' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0018838 lissencephaly spectrum disorders 'lissencephaly spectrum disorders' SubClassOf 'bearer_of' some 'rare' 'lissencephaly spectrum disorders' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001339 http://purl.obolibrary.org/obo/MONDO_0004202 adrenal medulla carcinoma 'adrenal medulla carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal medulla') http://purl.obolibrary.org/obo/MONDO_0018848 IgG4-related retroperitoneal fibrosis 'IgG4-related retroperitoneal fibrosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018843 embryonal carcinoma of the central nervous system 'embryonal carcinoma of the central nervous system' EquivalentTo 'embryonal carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0018855 keratosis pilaris atrophicans 'keratosis pilaris atrophicans' SubClassOf 'keratosis pilaris' 'keratosis pilaris atrophicans' SubClassOf 'keratosis pilaris' http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia 'achromatopsia' SubClassOf 'disease has feature' some 'amblyopia' http://purl.obolibrary.org/obo/MONDO_0018851 familial keratoacanthoma 'familial keratoacanthoma' EquivalentTo 'keratoacanthoma' and ('bearer_of' some 'inherited') 'familial keratoacanthoma' SubClassOf 'disease has feature' some 'benign tumor of palpebral epidermis' http://purl.obolibrary.org/obo/MONDO_0018866 Aicardi-Goutieres syndrome 'Aicardi-Goutieres syndrome' SubClassOf 'syndromic disease' 'Aicardi-Goutieres syndrome' SubClassOf 'hereditary disorder of connective tissue' 'Aicardi-Goutieres syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 http://purl.obolibrary.org/obo/MONDO_0018860 microlissencephaly-micromelia syndrome 'microlissencephaly-micromelia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0004235 diverticulitis 'diverticulitis' SubClassOf 'disease has feature' some 'dysentery' 'diverticulitis' SubClassOf 'disease has feature' some 'constipation disorder' 'diverticulitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0009854 'diverticulitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0009854) http://purl.obolibrary.org/obo/MONDO_0018878 branchiootic syndrome 'branchiootic syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018870 arterial calcification of infancy 'arterial calcification of infancy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0004245 ependymal tumor of brain 'ependymal tumor of brain' EquivalentTo 'ependymal neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://purl.obolibrary.org/obo/MONDO_0018883 Berardinelli-Seip congenital lipodystrophy 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'bearer_of' some 'rare' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018884 Roch-Leri mesosomatous lipomatosis 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0004259 endocervical carcinoma 'endocervical carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000458) http://purl.obolibrary.org/obo/MONDO_0004251 small intestine neoplasm 'small intestine neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://purl.obolibrary.org/obo/MONDO_0018898 primary cutaneous lymphoma 'primary cutaneous lymphoma' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0043839 ulcer disease 'ulcer disease' SubClassOf 'in taxon' some 'Homo sapiens' http://www.orpha.net/ORDO/Orphanet_217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'hereditary motor neuron disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0043878 hereditary optic atrophy 'hereditary optic atrophy' EquivalentTo 'optic atrophy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0043885 eye infectious disorder 'eye infectious disorder' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eye') http://www.ebi.ac.uk/efo/EFO_0003101 testicular seminoma 'testicular seminoma' EquivalentTo 'seminoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'testis') http://www.ebi.ac.uk/efo/EFO_0003104 adrenocortical adenoma 'adrenocortical adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adrenal cortex') http://www.ebi.ac.uk/efo/EFO_0003103 urinary tract infection 'urinary tract infection' SubClassOf 'bacterial disease' 'urinary tract infection' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal system') 'urinary tract infection' SubClassOf 'infectious disease' http://www.ebi.ac.uk/efo/EFO_0003105 spina bifida 'spina bifida' SubClassOf 'hereditary neurological disease' 'spina bifida' SubClassOf 'disease has feature' some 'meningocele' 'spina bifida' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0003110 villitis 'villitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'chorionic villus') 'villitis' SubClassOf 'disease has inflammation site' some 'chorionic villus' http://www.ebi.ac.uk/efo/EFO_0003144 heart failure 'heart failure' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'heart' http://purl.obolibrary.org/obo/HP_0007141 Sensorimotor neuropathy 'Sensorimotor neuropathy' SubClassOf 'Abnormal nervous system physiology' 'Sensorimotor neuropathy' SubClassOf http://purl.obolibrary.org/obo/HP_0009830 http://purl.obolibrary.org/obo/MONDO_0018919 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'peripheral precocious puberty' 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'precocious puberty in female' 'McCune-Albright syndrome' SubClassOf 'disease has feature' some 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0018911 maturity-onset diabetes of the young 'maturity-onset diabetes of the young' SubClassOf 'bearer_of' some 'rare' 'maturity-onset diabetes of the young' SubClassOf 'monogenic diabetes' 'maturity-onset diabetes of the young' SubClassOf 'monogenic diabetes' http://www.orpha.net/ORDO/Orphanet_3085 Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Retinal dystrophy' 'Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_3011 Spastic tetraplegia - retinitis pigmentosa - intellectual disability 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'Retinal dystrophy' 'Spastic tetraplegia - retinitis pigmentosa - intellectual disability' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_99807 PEHO-like syndrome 'PEHO-like syndrome' SubClassOf 'hereditary skin disorder' 'PEHO-like syndrome' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_320406 Spastic paraplegia-optic atrophy-neuropathy syndrome 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'hereditary motor neuron disease' 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0000603 autoimmune disorder of cardiovascular system 'autoimmune disorder of cardiovascular system' EquivalentTo 'type II hypersensitivity reaction disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cardiovascular system') http://purl.obolibrary.org/obo/MONDO_0000602 autoimmune disorder of blood 'autoimmune disorder of blood' EquivalentTo 'type II hypersensitivity reaction disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'blood') 'autoimmune disorder of blood' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'blood' http://purl.obolibrary.org/obo/MONDO_0000611 pre-malignant neoplasm 'pre-malignant neoplasm' SubClassOf 'precancerous condition' 'pre-malignant neoplasm' SubClassOf 'precancerous condition' http://purl.obolibrary.org/obo/HP_0007404 Nonepidermolytic palmoplantar hyperkeratosis 'Nonepidermolytic palmoplantar hyperkeratosis' SubClassOf 'Abnormal foot morphology' 'Nonepidermolytic palmoplantar hyperkeratosis' SubClassOf 'Epidermal thickening' 'Nonepidermolytic palmoplantar hyperkeratosis' SubClassOf 'Abnormality of the upper limb' 'Nonepidermolytic palmoplantar hyperkeratosis' SubClassOf http://purl.obolibrary.org/obo/HP_0000972 http://purl.obolibrary.org/obo/MONDO_0000612 lymphatic system cancer 'lymphatic system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lymphatic part of lymphoid system') http://purl.obolibrary.org/obo/GO_0006768 biotin metabolic process 'biotin metabolic process' SubClassOf http://purl.obolibrary.org/obo/GO_0006082 'biotin metabolic process' SubClassOf http://purl.obolibrary.org/obo/GO_0006790 http://purl.obolibrary.org/obo/MONDO_0000621 immune system cancer 'immune system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'immune system') http://purl.obolibrary.org/obo/MONDO_0000620 breast benign neoplasm 'breast benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'breast') 'breast benign neoplasm' SubClassOf 'integumentary system benign neoplasm' http://purl.obolibrary.org/obo/GO_0006772 thiamine metabolic process 'thiamine metabolic process' SubClassOf http://purl.obolibrary.org/obo/GO_0006790 http://purl.obolibrary.org/obo/MONDO_0000625 benign male reproductive system neoplasm 'benign male reproductive system neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'male reproductive system') http://purl.obolibrary.org/obo/MONDO_0000624 benign female reproductive system neoplasm 'benign female reproductive system neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003134) 'benign female reproductive system neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003134 http://purl.obolibrary.org/obo/MONDO_0000629 cardiovascular organ benign neoplasm 'cardiovascular organ benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cardiovascular system') http://purl.obolibrary.org/obo/MONDO_0000628 central nervous system organ benign neoplasm 'central nervous system organ benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0000627 benign endocrine neoplasm 'benign endocrine neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine gland') http://purl.obolibrary.org/obo/MONDO_0000633 sensory organ benign neoplasm 'sensory organ benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000020) 'sensory organ benign neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000020 http://purl.obolibrary.org/obo/MONDO_0000632 uterine benign neoplasm 'uterine benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterus') http://purl.obolibrary.org/obo/MONDO_0000631 bone benign neoplasm 'bone benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002481) http://www.orpha.net/ORDO/Orphanet_3115 Roussy-Lévy syndrome 'Roussy-Lévy syndrome' SubClassOf 'hereditary motor neuron disease' 'Roussy-Lévy syndrome' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0000637 musculoskeletal system cancer 'musculoskeletal system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'musculoskeletal system') http://purl.obolibrary.org/obo/MONDO_0000636 musculoskeletal system benign neoplasm 'musculoskeletal system benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'musculoskeletal system') http://purl.obolibrary.org/obo/MONDO_0000634 thoracic benign neoplasm 'thoracic benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thoracic segment of trunk') http://purl.obolibrary.org/obo/MONDO_0000638 benign glioma 'benign glioma' SubClassOf 'nervous system benign neoplasm' 'benign glioma' SubClassOf 'central nervous system organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000640 central nervous system primitive neuroectodermal neoplasm 'central nervous system primitive neuroectodermal neoplasm' EquivalentTo 'primitive neuroectodermal tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0024611 orbit neoplasm 'orbit neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001697 'orbit neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001697) http://purl.obolibrary.org/obo/MONDO_0000643 vulvar benign neoplasm 'vulvar benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0024610 parasitic skin disorder 'parasitic skin disorder' EquivalentTo 'parasitic infection' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0000648 nervous system benign neoplasm 'nervous system benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nervous system') http://purl.obolibrary.org/obo/MONDO_0000647 benign vaginal neoplasm 'benign vaginal neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vagina') http://purl.obolibrary.org/obo/MONDO_0000649 sensory system cancer 'sensory system cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'sensory system' 'sensory system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sensory system') http://purl.obolibrary.org/obo/MONDO_0000650 peritoneal benign neoplasm 'peritoneal benign neoplasm' SubClassOf 'benign digestive system neoplasm' 'peritoneal benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum') http://purl.obolibrary.org/obo/MONDO_0000653 integumentary system cancer 'integumentary system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'integumental system') http://purl.obolibrary.org/obo/MONDO_0000652 integumentary system benign neoplasm 'integumentary system benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'integumental system') 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 http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine' 'small intestine disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://purl.obolibrary.org/obo/MONDO_0024634 large intestine disorder 'large intestine disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'large intestine' 'large intestine disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'large intestine') http://purl.obolibrary.org/obo/MONDO_0024636 inflammation of heart layer 'inflammation of heart layer' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0005983) 'inflammation of heart layer' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0005983 http://purl.obolibrary.org/obo/MONDO_0024622 thyroid gland adenocarcinoma 'thyroid gland adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease 'otorhinolaryngologic disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007811 'otorhinolaryngologic disease' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0009008 heart defect - tongue hamartoma - polysyndactyly syndrome 'heart defect - tongue hamartoma - polysyndactyly syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009007 Jalili syndrome 'Jalili syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0024626 defective phagocytic cell engulfment 'defective phagocytic cell engulfment' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006911 'defective phagocytic cell engulfment' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006911) http://purl.obolibrary.org/obo/MONDO_0024625 disorder of lacrimal gland 'disorder of lacrimal gland' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lacrimal gland') 'disorder of lacrimal gland' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'lacrimal gland' http://purl.obolibrary.org/obo/MONDO_0024627 phagocytic cell dysfunction 'phagocytic cell dysfunction' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/CL_0000234 'phagocytic cell dysfunction' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006909) 'phagocytic cell dysfunction' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006909 http://purl.obolibrary.org/obo/MONDO_0024653 skull neoplasm 'skull neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003129) http://purl.obolibrary.org/obo/MONDO_0024654 skull disorder 'skull disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003129) 'skull disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003129 http://purl.obolibrary.org/obo/MONDO_0024656 colorectal lymphoma 'colorectal lymphoma' SubClassOf 'familial colorectal cancer' 'colorectal lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'large intestine') http://purl.obolibrary.org/obo/MONDO_0000698 gamma-amino butyric acid metabolism disorder 'gamma-amino butyric acid metabolism disorder' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0024643 myocardial disorder 'myocardial disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'myocardium' 'myocardial disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'myocardium') http://purl.obolibrary.org/obo/MONDO_0024645 retroperitoneal neoplasm 'retroperitoneal neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'retroperitoneal space' 'retroperitoneal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'retroperitoneal space') http://purl.obolibrary.org/obo/MONDO_0009028 Crane-Heise syndrome 'Crane-Heise syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010017 sea-blue histiocyte syndrome 'sea-blue histiocyte syndrome' SubClassOf 'disease has feature' some 'histiocytoma' http://purl.obolibrary.org/obo/MONDO_0024649 optic tract astrocytoma 'optic tract astrocytoma' EquivalentTo 'astrocytoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001908) http://purl.obolibrary.org/obo/MONDO_0024677 pancreatic insulinoma 'pancreatic insulinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'insulin secreting cell' http://purl.obolibrary.org/obo/MONDO_0009034 craniofacial dyssynostosis 'craniofacial dyssynostosis' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'rare' 'generalized resistance to thyroid hormone' SubClassOf 'thyroid hormone resistance syndrome' 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_0009045 cataract-nephropathy-encephalopathy syndrome 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009044 Crigler-Najjar syndrome 'Crigler-Najjar syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009064 ocular cystinosis 'ocular cystinosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis 'cystic fibrosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010049 spastic paraplegia-glaucoma-intellectual disability syndrome 'spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria 'cystinuria' SubClassOf 'syndromic disease' 'cystinuria' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010051 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 'spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' 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' http://purl.obolibrary.org/obo/MONDO_0010066 familial isolated congenital asplenia 'familial isolated congenital asplenia' SubClassOf 'bearer_of' some 'congenital' 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' http://purl.obolibrary.org/obo/MONDO_0009089 deafness-oligodontia syndrome 'deafness-oligodontia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0024499 vascular bone neoplasm 'vascular bone neoplasm' EquivalentTo 'vascular neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002481) http://purl.obolibrary.org/obo/HP_0032397 Citrullinuria 'Citrullinuria' SubClassOf 'Abnormality of urine homeostasis' 'Citrullinuria' SubClassOf http://purl.obolibrary.org/obo/HP_0003355 http://purl.obolibrary.org/obo/MONDO_0024482 eccrine sweat gland hamartoma 'eccrine sweat gland hamartoma' EquivalentTo 'hamartoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eccrine sweat gland') http://purl.obolibrary.org/obo/MONDO_0024481 skin appendage disorder 'skin appendage disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000021 http://purl.obolibrary.org/obo/MONDO_0024483 urothelial hyperplasia 'urothelial hyperplasia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'urothelium' 'urothelial hyperplasia' EquivalentTo 'hyperplasia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urothelium') http://purl.obolibrary.org/obo/UBERON_0004117 pharyngeal pouch 'pharyngeal pouch' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0004124 myocardium trabecular layer 'myocardium trabecular layer' SubClassOf 'heart component' 'myocardium trabecular layer' SubClassOf 'part of' some 'heart' 'myocardium trabecular layer' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005983 http://purl.obolibrary.org/obo/MONDO_0000509 non-syndromic intellectual disability 'non-syndromic intellectual disability' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0000515 bone chondrosarcoma 'bone chondrosarcoma' EquivalentTo 'chondrosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002481) http://purl.obolibrary.org/obo/MONDO_0000514 bone squamous cell carcinoma 'bone squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002481) http://purl.obolibrary.org/obo/MONDO_0000521 salivary gland carcinoma 'salivary gland carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://www.orpha.net/ORDO/Orphanet_99750 Atypical progressive supranuclear palsy 'Atypical progressive supranuclear palsy' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0000527 colon adenoma 'colon adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0000530 rectum adenoma 'rectum adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://purl.obolibrary.org/obo/MONDO_0000535 tonsil squamous cell carcinoma 'tonsil squamous cell carcinoma' SubClassOf 'oropharynx squamous cell carcinoma' 'tonsil squamous cell carcinoma' SubClassOf 'tonsil carcinoma' http://purl.obolibrary.org/obo/MONDO_0024516 familial acne inversa 'familial acne inversa' EquivalentTo 'hidradenitis suppurativa' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0000551 retroperitoneal neuroblastoma 'retroperitoneal neuroblastoma' EquivalentTo 'neuroblastoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'retroperitoneal space') http://purl.obolibrary.org/obo/MONDO_0024501 appendix neuroendocrine neoplasm 'appendix neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') http://purl.obolibrary.org/obo/MONDO_0024500 duodenal neuroendocrine neoplasm 'duodenal neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'duodenum') http://purl.obolibrary.org/obo/MONDO_0024503 digestive system neuroendocrine neoplasm 'digestive system neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'alimentary part of gastrointestinal system') http://purl.obolibrary.org/obo/MONDO_0000554 endocervical adenocarcinoma 'endocervical adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000458) http://purl.obolibrary.org/obo/MONDO_0024502 gallbladder neuroendocrine neoplasm 'gallbladder neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') http://purl.obolibrary.org/obo/MONDO_0000565 infective endocarditis 'infective endocarditis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'endocardium') http://www.ebi.ac.uk/efo/EFO_1002008 atypical teratoid rhabdoid tumor 'atypical teratoid rhabdoid tumor' EquivalentTo 'malignant rhabdoid tumour' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0000569 autoimmune disorder of endocrine system 'autoimmune disorder of endocrine system' EquivalentTo 'type II hypersensitivity reaction disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine system') http://purl.obolibrary.org/obo/MONDO_0000577 congenital anemia 'congenital anemia' EquivalentTo 'anemia' and ('bearer_of' some 'congenital') http://www.ebi.ac.uk/efo/EFO_1002018 bronchial disease 'bronchial disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'bronchus' 'bronchial disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bronchus') http://purl.obolibrary.org/obo/MONDO_0000589 autoimmune disorder of musculoskeletal system 'autoimmune disorder of musculoskeletal system' EquivalentTo 'type II hypersensitivity reaction disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'musculoskeletal system') http://purl.obolibrary.org/obo/MONDO_0000588 autoimmune disorder of gastrointestinal tract 'autoimmune disorder of gastrointestinal tract' EquivalentTo 'type II hypersensitivity reaction disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'alimentary part of gastrointestinal system') http://purl.obolibrary.org/obo/MONDO_0000587 autoimmune disease of ear, nose and throat 'autoimmune disease of ear, nose and throat' EquivalentTo 'otorhinolaryngologic disease' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0002960) http://purl.obolibrary.org/obo/MONDO_0000586 autoimmune disorder of exocrine system 'autoimmune disorder of exocrine system' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002330 'autoimmune disorder of exocrine system' EquivalentTo 'type II hypersensitivity reaction disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002330) http://www.ebi.ac.uk/efo/EFO_1002028 cicatricial alopecia 'cicatricial alopecia' SubClassOf 'hereditary skin disorder' 'cicatricial alopecia' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1002025 measles 'measles' SubClassOf 'disease has feature' some 'dysentery' http://www.ebi.ac.uk/efo/EFO_1002023 plantar wart 'plantar wart' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0008338 http://purl.obolibrary.org/obo/MONDO_0000594 pervasive developmental disorder 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' http://www.ebi.ac.uk/efo/EFO_1002039 renal hypertension 'renal hypertension' EquivalentTo 'secondary hypertension' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0001920) 'renal hypertension' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0001920 http://purl.obolibrary.org/obo/MONDO_0000592 specific developmental disorder 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' 'specific developmental disorder' DisjointWith 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0000590 autoimmune disorder of peripheral nervous system 'autoimmune disorder of peripheral nervous system' EquivalentTo 'type II hypersensitivity reaction disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peripheral nervous system') http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy 'familial hypertrophic cardiomyopathy' EquivalentTo 'hypertrophic cardiomyopathy' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_1002049 glomerular disease 'glomerular disease' SubClassOf 'bearer_of' some 'rare' 'glomerular disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'renal glomerulus' 'glomerular disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal glomerulus') http://www.ebi.ac.uk/efo/EFO_1002046 apocrine sweat gland disease 'apocrine sweat gland disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'apocrine sweat gland') 'apocrine sweat gland disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'apocrine sweat gland' http://purl.obolibrary.org/obo/MONDO_0024572 immunodeficiency-related disorder 'immunodeficiency-related disorder' SubClassOf 'disease arises from feature' some 'Immunodeficiency' http://www.ebi.ac.uk/efo/EFO_1002051 facial nerve disease 'facial nerve disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001647 'facial nerve disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001647) http://www.ebi.ac.uk/efo/EFO_1002050 nephritis 'nephritis' SubClassOf 'disease has inflammation site' some 'kidney' 'nephritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'kidney') http://purl.obolibrary.org/obo/MONDO_0024568 infantile liver failure syndrome 1 'infantile liver failure syndrome 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0024582 male reproductive system neoplasm 'male reproductive system neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003135 'male reproductive system neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003135) http://www.ebi.ac.uk/efo/EFO_0007201 cerebral ventricle cancer 'cerebral ventricle cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain ventricle') 'cerebral ventricle cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brain ventricle' http://www.ebi.ac.uk/efo/EFO_0007200 cerebral toxoplasmosis 'cerebral toxoplasmosis' SubClassOf 'central nervous system disease' 'cerebral toxoplasmosis' SubClassOf 'central nervous system infection' http://www.ebi.ac.uk/efo/EFO_0007207 chromoblastomycosis 'chromoblastomycosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007206 choroid plexus cancer 'choroid plexus cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'choroid plexus' 'choroid plexus cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'choroid plexus') http://www.ebi.ac.uk/efo/EFO_0007204 chickenpox 'chickenpox' SubClassOf 'disease has feature' some 'exanthem' http://www.ebi.ac.uk/efo/EFO_0007208 Churg-Strauss syndrome 'Churg-Strauss syndrome' SubClassOf 'central nervous system disease' 'Churg-Strauss syndrome' SubClassOf 'central nervous system vasculitis' http://www.ebi.ac.uk/efo/EFO_0007220 congenital toxoplasmosis 'congenital toxoplasmosis' EquivalentTo 'toxoplasmosis' and ('bearer_of' some 'congenital') http://www.ebi.ac.uk/efo/EFO_0007229 cryptococcosis 'cryptococcosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007210 clonorchiasis 'clonorchiasis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007214 common cold 'common cold' SubClassOf 'bearer_of' some 'not rare' http://www.ebi.ac.uk/efo/EFO_0007213 Colorado tick fever 'Colorado tick fever' SubClassOf http://purl.obolibrary.org/obo/RO_0002451 some 'Dermacentor andersoni' http://www.ebi.ac.uk/efo/EFO_0007212 coccidiosis 'coccidiosis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007211 coccidioidomycosis 'coccidioidomycosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007218 congenital rubella 'congenital rubella' SubClassOf 'bearer_of' some 'congenital' 'congenital rubella' EquivalentTo 'rubella' and ('bearer_of' some 'congenital') http://www.ebi.ac.uk/efo/EFO_0007217 congenital nystagmus 'congenital nystagmus' EquivalentTo 'pathologic nystagmus' and ('bearer_of' some 'congenital') http://www.ebi.ac.uk/efo/EFO_0007219 congenital syphilis 'congenital syphilis' EquivalentTo 'syphilis' and ('bearer_of' some 'congenital') 'congenital syphilis' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0007243 Ebola hemorrhagic fever 'Ebola hemorrhagic fever' SubClassOf 'disease has feature' some 'conjunctivitis' 'Ebola hemorrhagic fever' SubClassOf 'disease has feature' some 'dysentery' http://www.ebi.ac.uk/efo/EFO_0007246 echinostomiasis 'echinostomiasis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007249 emphysematous cholecystitis 'emphysematous cholecystitis' SubClassOf 'disease has inflammation site' some 'gallbladder' http://www.ebi.ac.uk/efo/EFO_0007232 cystoisosporiasis 'cystoisosporiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007231 cysticercosis 'cysticercosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007230 cyclosporiasis 'cyclosporiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007234 dicrocoeliasis 'dicrocoeliasis' SubClassOf 'digestive system disease' 'dicrocoeliasis' SubClassOf 'biliary tract disease' 'dicrocoeliasis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007233 diaphragm disease 'diaphragm disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'diaphragm') 'diaphragm disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'diaphragm' http://www.ebi.ac.uk/efo/EFO_0007239 dirofilariasis 'dirofilariasis' SubClassOf 'skin disease' 'dirofilariasis' SubClassOf 'parasitic skin disorder' http://www.ebi.ac.uk/efo/EFO_0007238 diphyllobothriasis 'diphyllobothriasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007237 dipetalonemiasis 'dipetalonemiasis' SubClassOf 'skin disease' 'dipetalonemiasis' SubClassOf 'parasitic skin disorder' http://www.ebi.ac.uk/efo/EFO_0007264 ethmoid sinusitis 'ethmoid sinusitis' EquivalentTo 'sinusitis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001679) 'ethmoid sinusitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001679 http://www.ebi.ac.uk/efo/EFO_0007269 Felty's syndrome 'Felty's syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007268 fascioloidiasis 'fascioloidiasis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007272 filarial elephantiasis 'filarial elephantiasis' SubClassOf 'skin disease' 'filarial elephantiasis' SubClassOf 'disease has feature' some 'elephantiasis' 'filarial elephantiasis' EquivalentTo 'elephantiasis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyelid') 'filarial elephantiasis' SubClassOf 'parasitic skin disorder' http://www.ebi.ac.uk/efo/EFO_0007270 femoral cancer 'femoral cancer' SubClassOf 'bone neoplasm' 'femoral cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021579 'femoral cancer' SubClassOf 'cancer of long bone of lower limb' 'femoral cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'femur') http://www.ebi.ac.uk/efo/EFO_0007254 enterobiasis 'enterobiasis' SubClassOf 'disease has feature' some 'constipation disorder' http://www.ebi.ac.uk/efo/EFO_0007255 Enterovirus infectious disease 'Enterovirus infectious disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001555 http://www.ebi.ac.uk/efo/EFO_0007261 epiglottitis 'epiglottitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0004982) 'epiglottitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0004982 'epiglottitis' SubClassOf 'disease has inflammation site' some 'mucosa' 'epiglottitis' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007285 Gerstmann syndrome 'Gerstmann syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007276 follicular dendritic cell sarcoma 'follicular dendritic cell sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'follicular dendritic cell') 'follicular dendritic cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'follicular dendritic cell' http://www.ebi.ac.uk/efo/EFO_0007275 focal epithelial hyperplasia 'focal epithelial hyperplasia' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007280 gastrointestinal tuberculosis 'gastrointestinal tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'alimentary part of gastrointestinal system') http://www.ebi.ac.uk/efo/EFO_0007299 hemorrhagic fever with renal syndrome 'hemorrhagic fever with renal syndrome' SubClassOf 'urinary tract infection' http://www.orpha.net/ORDO/Orphanet_3240 Central nervous system calcification - deafness - tubular acidosis - anemia 'Central nervous system calcification - deafness - tubular acidosis - anemia' SubClassOf 'inherited kidney disorder' http://www.orpha.net/ORDO/Orphanet_85448 Familial amyloidosis, Finnish type 'Familial amyloidosis, Finnish type' SubClassOf 'hereditary amyloidosis' 'Familial amyloidosis, Finnish type' SubClassOf 'amyloidosis' http://www.orpha.net/ORDO/Orphanet_309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'inborn errors of metabolism' 'Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/HP_0007648 Punctate cataract 'Punctate cataract' SubClassOf 'Abnormal lens morphology' 'Punctate cataract' SubClassOf http://purl.obolibrary.org/obo/HP_0000518 http://purl.obolibrary.org/obo/UBERON_0004068 medial nasal prominence 'medial nasal prominence' SubClassOf 'part of' some 'head' 'medial nasal prominence' SubClassOf 'part of' some 'embryo' 'medial nasal prominence' SubClassOf 'embryonic structure' 'medial nasal prominence' SubClassOf http://purl.obolibrary.org/obo/UBERON_0012314 http://purl.obolibrary.org/obo/UBERON_0004067 lateral nasal prominence 'lateral nasal prominence' SubClassOf 'embryonic structure' 'lateral nasal prominence' SubClassOf 'part of' some 'head' 'lateral nasal prominence' SubClassOf 'part of' some 'embryo' 'lateral nasal prominence' SubClassOf http://purl.obolibrary.org/obo/UBERON_0012314 http://www.orpha.net/ORDO/Orphanet_309813 Disorder of porphyrin and haem metabolism 'Disorder of porphyrin and haem metabolism' SubClassOf 'inborn errors of metabolism' 'Disorder of porphyrin and haem metabolism' SubClassOf 'genetic disorder' 'Disorder of porphyrin and haem metabolism' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_309827 Disorder of vitamin and non-protein cofactor absorption and transport  'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'inborn errors of metabolism' 'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'genetic disorder' 'Disorder of vitamin and non-protein cofactor absorption and transport ' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000432 lymphoplasmacytic lymphoma 'lymphoplasmacytic lymphoma' SubClassOf 'disease has feature' some 'lymphoplasmacytic lymphoma' http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia 'cerebellar ataxia' SubClassOf 'bearer_of' some 'rare' 'cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'cerebellum' 'cerebellar ataxia' EquivalentTo 'atactic disorder' and (http://purl.obolibrary.org/obo/RO_0004020 some 'cerebellum') http://purl.obolibrary.org/obo/MONDO_0024417 perceptual disorders 'perceptual disorders' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'sensory perception' http://purl.obolibrary.org/obo/MONDO_0024419 enthesitis 'enthesitis' SubClassOf 'rheumatic disease' 'enthesitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0035845 'enthesitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0035845) http://purl.obolibrary.org/obo/MONDO_0000447 autosomal dominant polycystic liver disease 'autosomal dominant polycystic liver disease' SubClassOf 'liver disease' 'autosomal dominant polycystic liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0024431 bilirubin metabolism disease 'bilirubin metabolism disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0015723 http://purl.obolibrary.org/obo/MONDO_0000469 sinoatrial node disorder 'sinoatrial node disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002351 'sinoatrial node disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002351) http://purl.obolibrary.org/obo/MONDO_0000474 pericardium disorder 'pericardium disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pericardium' 'pericardium disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pericardium') http://purl.obolibrary.org/obo/MONDO_0000473 arterial disorder 'arterial disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'artery') 'arterial disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'artery' http://purl.obolibrary.org/obo/MONDO_0000470 endocardium disorder 'endocardium disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'endocardium' 'endocardium disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endocardium') http://purl.obolibrary.org/obo/MONDO_0024458 disorder of visual system 'disorder of visual system' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002104 'disorder of visual system' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0000490 glomerulosclerosis 'glomerulosclerosis' SubClassOf 'disease causes feature' some 'kidney failure' 'glomerulosclerosis' SubClassOf 'glomerular disease' 'glomerulosclerosis' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/MONDO_0024477 liver and intrahepatic bile duct neoplasm 'liver and intrahepatic bile duct neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') http://purl.obolibrary.org/obo/MONDO_0024476 epithelial neoplasm of rectum 'epithelial neoplasm of rectum' EquivalentTo 'epithelial neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://purl.obolibrary.org/obo/MONDO_0024479 epithelial tumor of colon 'epithelial tumor of colon' EquivalentTo 'epithelial neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0024468 anterior pituitary gland disorder 'anterior pituitary gland disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'adenohypophysis' 'anterior pituitary gland disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adenohypophysis') http://purl.obolibrary.org/obo/MONDO_0024257 hereditary motor neuron disease 'hereditary motor neuron disease' EquivalentTo 'motor neuron disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0024240 eccrine carcinoma 'eccrine carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eccrine sweat gland') http://purl.obolibrary.org/obo/MONDO_0024271 intestinal helminthiasis 'intestinal helminthiasis' EquivalentTo 'Helminthiasis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'intestine') http://purl.obolibrary.org/obo/MONDO_0024268 superficial mycosis 'superficial mycosis' EquivalentTo 'fungal infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002027) 'superficial mycosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002027 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 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007128 actinomycosis 'actinomycosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0024294 skin disorder caused by infection 'skin disorder caused by infection' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm 'vascular neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007798) 'vascular neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007798 http://purl.obolibrary.org/obo/MONDO_0024287 congenital vascular malformation 'congenital vascular malformation' EquivalentTo 'vascular malformation' and ('bearer_of' some 'congenital') 'congenital vascular malformation' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0007143 alveolar soft part sarcoma 'alveolar soft part sarcoma' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_0007148 aortic valve insufficiency 'aortic valve insufficiency' EquivalentTo 'vascular insufficiency disorder' and (http://purl.obolibrary.org/obo/RO_0004026 some 'aortic valve') http://www.ebi.ac.uk/efo/EFO_0007146 anisakiasis 'anisakiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007149 appendicitis 'appendicitis' SubClassOf 'diverticulitis' 'appendicitis' SubClassOf 'diverticulitis of colon' 'appendicitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'vermiform appendix') 'appendicitis' SubClassOf 'disease has inflammation site' some 'vermiform appendix' http://www.ebi.ac.uk/efo/EFO_0007136 agnosia 'agnosia' EquivalentTo 'perceptual disorders' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0010524) 'agnosia' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0010524 http://www.ebi.ac.uk/efo/EFO_0007135 adult-onset Still's disease 'adult-onset Still's disease' SubClassOf 'disease has feature' some 'hemophagocytic syndrome' 'adult-onset Still's disease' SubClassOf 'disease has feature' some 'pharyngitis' http://www.ebi.ac.uk/efo/EFO_0007163 balantidiasis 'balantidiasis' SubClassOf 'disease has feature' some 'dysentery' 'balantidiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007169 biliary dyskinesia 'biliary dyskinesia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004915 http://www.ebi.ac.uk/efo/EFO_0007167 Bell's palsy 'Bell's palsy' EquivalentTo 'palsy' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001647) http://www.ebi.ac.uk/efo/EFO_0007155 ascaridiasis 'ascaridiasis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007154 ascariasis 'ascariasis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007157 aspergillosis 'aspergillosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007162 babesiosis 'babesiosis' SubClassOf 'bearer_of' some 'rare' 'babesiosis' SubClassOf 'disease has feature' some 'unipolar depression' http://www.ebi.ac.uk/efo/EFO_0007160 autoimmune thrombocytopenic purpura 'autoimmune thrombocytopenic purpura' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'platelet' http://www.ebi.ac.uk/efo/EFO_0007186 bulbar polio 'bulbar polio' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'medulla oblongata' http://www.ebi.ac.uk/efo/EFO_0007185 brucellosis 'brucellosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007195 cat-scratch disease 'cat-scratch disease' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007180 bovine respiratory disease complex 'bovine respiratory disease complex' SubClassOf 'in taxon' some 'Bos taurus' http://www.ebi.ac.uk/efo/EFO_0007181 bovine virus diarrhea-mucosal disease 'bovine virus diarrhea-mucosal disease' SubClassOf 'in taxon' some 'Bos taurus' http://www.ebi.ac.uk/efo/EFO_0007199 central nervous system tuberculosis 'central nervous system tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://www.ebi.ac.uk/efo/EFO_0007197 cecal benign neoplasm 'cecal benign neoplasm' SubClassOf 'cecal neoplasm' 'cecal benign neoplasm' SubClassOf 'benign neoplasm' 'cecal benign neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021464 http://www.ebi.ac.uk/efo/EFO_0007196 Cauda equina syndrome 'Cauda equina syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0012337) 'Cauda equina syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0012337 http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'hereditary skin disorder' 'Deafness - lymphedema - leukemia' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0000308 primary systemic mycosis 'primary systemic mycosis' EquivalentTo 'systemic mycosis' and ('bearer_of' some 'primary infectious') 'primary systemic mycosis' SubClassOf 'bearer_of' some 'primary infectious' http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease 'primary bacterial infectious disease' SubClassOf 'bearer_of' some 'primary infectious' 'primary bacterial infectious disease' EquivalentTo 'bacterial disease' and ('bearer_of' some 'primary infectious') http://purl.obolibrary.org/obo/MONDO_0014958 Harel-Yoon syndrome 'Harel-Yoon syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014952 intellectual disability-epilepsy-extrapyramidal syndrome 'intellectual disability-epilepsy-extrapyramidal syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000316 opportunistic bacterial infectious disease 'opportunistic bacterial infectious disease' EquivalentTo 'bacterial disease' and ('bearer_of' some 'opportunistic infectious') 'opportunistic bacterial infectious disease' SubClassOf 'bearer_of' some 'opportunistic infectious' 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' 'cancer affecting bone of limb skeleton' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'limb bone') 'cancer affecting bone of limb skeleton' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'limb bone' http://purl.obolibrary.org/obo/MONDO_0024301 acquired mineral metabolism disease 'acquired mineral metabolism disease' EquivalentTo 'mineral metabolism disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0000351 disorder of methionine catabolism 'disorder of methionine catabolism' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_development_of some http://purl.obolibrary.org/obo/UBERON_0012314 'orofacial cleft' SubClassOf 'disease has major feature' some 'Orofacial cleft' 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001456 http://purl.obolibrary.org/obo/MONDO_0024305 acquired hyperprolactinemia 'acquired hyperprolactinemia' EquivalentTo 'hyperprolactinemia' and ('bearer_of' some 'acquired') 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' EquivalentTo 'lactic acidosis' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0000359 spondylocostal dysostosis 'spondylocostal dysostosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'rib' http://purl.obolibrary.org/obo/MONDO_0024308 pseudoxanthoma elasticum (inherited or acquired) 'pseudoxanthoma elasticum (inherited or acquired)' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/GO_0071953 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' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'abdomen') 'abdominal tuberculosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'abdomen' http://purl.obolibrary.org/obo/MONDO_0024337 urothelial neoplasm 'urothelial neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urothelium') 'urothelial neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'urothelium' http://purl.obolibrary.org/obo/MONDO_0024339 lymph node neoplasm 'lymph node neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lymph node') http://purl.obolibrary.org/obo/MONDO_0000376 respiratory system cancer 'respiratory system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'respiratory system') 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 'nervous system neoplasm' 'inner ear neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'internal ear') http://purl.obolibrary.org/obo/MONDO_0000386 digestive system neuroendocrine tumor, grade 1/2 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'bearer_of' some 'tumor grade 1 or 2, general grading system' http://purl.obolibrary.org/obo/MONDO_0000385 benign digestive system neoplasm 'benign digestive system neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'alimentary part of gastrointestinal system') http://purl.obolibrary.org/obo/MONDO_0024355 respiratory tract infectious disorder 'respiratory tract infectious disorder' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'respiratory tract') 'respiratory tract infectious disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'respiratory tract' http://purl.obolibrary.org/obo/MONDO_0000383 benign reproductive system neoplasm 'benign reproductive system neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'reproductive system') http://purl.obolibrary.org/obo/MONDO_0000382 respiratory system benign neoplasm 'respiratory system benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'respiratory system') http://purl.obolibrary.org/obo/MONDO_0024352 viral respiratory tract infection 'viral respiratory tract infection' EquivalentTo 'viral disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'respiratory tract') http://purl.obolibrary.org/obo/MONDO_0000380 paranasal sinus carcinoma 'paranasal sinus carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001825) http://www.ebi.ac.uk/efo/EFO_0007441 placenta disease 'placenta disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'placenta' 'placenta disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'placenta') http://purl.obolibrary.org/obo/MONDO_0000169 microphthalmia, isolated, with cataract 'microphthalmia, isolated, with cataract' SubClassOf 'disease has feature' some 'cataract' 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' 'microphthalmia, isolated, with cataract' EquivalentTo 'isolated microphthalmia' and ('disease has feature' some 'cataract') 'microphthalmia, isolated, with cataract' SubClassOf 'isolated microphthalmia' http://www.ebi.ac.uk/efo/EFO_0007443 placental insufficiency 'placental insufficiency' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007448 pneumocystosis 'pneumocystosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007446 pleural tuberculosis 'pleural tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pleura') http://www.ebi.ac.uk/efo/EFO_0007434 pharyngoconjunctival fever 'pharyngoconjunctival fever' SubClassOf 'disease has feature' some 'conjunctivitis' 'pharyngoconjunctival fever' SubClassOf 'disease has feature' some 'pharyngitis' http://purl.obolibrary.org/obo/MONDO_0000170 microphthalmia, isolated, with coloboma 'microphthalmia, isolated, with coloboma' SubClassOf 'isolated microphthalmia' 'microphthalmia, isolated, with coloboma' EquivalentTo 'isolated microphthalmia' and ('disease has feature' some 'coloboma') 'microphthalmia, isolated, with coloboma' SubClassOf 'disease has feature' some 'coloboma' 'microphthalmia, isolated, with coloboma' SubClassOf 'isolated microphthalmia' http://www.ebi.ac.uk/efo/EFO_0007439 pityriasis versicolor 'pityriasis versicolor' SubClassOf 'exanthem' 'pityriasis versicolor' SubClassOf 'exanthem' http://www.ebi.ac.uk/efo/EFO_0007463 renal tuberculosis 'renal tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'kidney') http://www.ebi.ac.uk/efo/EFO_0007462 REM sleep behavior disorder 'REM sleep behavior disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'circadian sleep/wake cycle, REM sleep' 'REM sleep behavior disorder' EquivalentTo 'sleep-wake disorder' and (http://purl.obolibrary.org/obo/RO_0004024 some 'circadian sleep/wake cycle, REM sleep') http://www.ebi.ac.uk/efo/EFO_0007460 reactive arthritis 'reactive arthritis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007466 retroperitoneal cancer 'retroperitoneal cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'retroperitoneal space') http://purl.obolibrary.org/obo/UBERON_0004639 renal afferent arteriole 'renal afferent arteriole' SubClassOf 'part of' some 'vasculature' 'renal afferent arteriole' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001980 http://www.ebi.ac.uk/efo/EFO_0007454 postpoliomyelitis syndrome 'postpoliomyelitis syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'muscle cell' 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' EquivalentTo 'blastoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_0007457 pseudorabies 'pseudorabies' SubClassOf 'infectious disorder of the nervous system' http://purl.obolibrary.org/obo/MONDO_0000193 cortisone reductase deficiency 'cortisone reductase deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0003845 http://purl.obolibrary.org/obo/UBERON_0004640 renal efferent arteriole 'renal efferent arteriole' SubClassOf 'blood vessel' 'renal efferent arteriole' SubClassOf 'part of' some 'vasculature' 'renal efferent arteriole' SubClassOf http://purl.obolibrary.org/obo/UBERON_0001980 http://www.ebi.ac.uk/efo/EFO_0007482 setariasis 'setariasis' SubClassOf 'skin disease' 'setariasis' SubClassOf 'parasitic skin disorder' http://www.ebi.ac.uk/efo/EFO_0007489 sphenoid sinusitis 'sphenoid sinusitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001677 'sphenoid sinusitis' EquivalentTo 'sinusitis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001677) http://www.ebi.ac.uk/efo/EFO_0007487 skeletal tuberculosis 'skeletal tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'skeletal system') http://www.ebi.ac.uk/efo/EFO_0007486 sinusitis 'sinusitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001825 'sinusitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001825) http://www.ebi.ac.uk/efo/EFO_0007492 splenic tuberculosis 'splenic tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spleen') http://www.ebi.ac.uk/efo/EFO_0007491 spleen cancer 'spleen cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'spleen') http://www.ebi.ac.uk/efo/EFO_0007490 spinal stenosis 'spinal stenosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0006692 http://www.ebi.ac.uk/efo/EFO_0007478 scirrhous adenocarcinoma 'scirrhous adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'stromal cell' http://www.ebi.ac.uk/efo/EFO_0007477 scarlet fever 'scarlet fever' SubClassOf 'disease has feature' some 'exanthem' http://www.ebi.ac.uk/efo/EFO_0007476 sarcocystosis 'sarcocystosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007481 septicemic plague 'septicemic plague' EquivalentTo 'Yersinia pestis infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'blood') 'septicemic plague' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'blood' http://www.ebi.ac.uk/efo/EFO_0007494 sporotrichosis 'sporotrichosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007497 staphyloenterotoxemia 'staphyloenterotoxemia' SubClassOf 'digestive system infectious disorder' http://purl.obolibrary.org/obo/GO_0006306 DNA methylation 'DNA methylation' SubClassOf 'macromolecule modification' 'DNA methylation' SubClassOf 'nucleobase-containing compound metabolic process' 'DNA methylation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014805 Hao-Fountain syndrome 'Hao-Fountain syndrome' SubClassOf 'partial deletion of the short arm of chromosome 16' 'Hao-Fountain syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' 'Hao-Fountain syndrome' SubClassOf 'Neurodevelopmental disorder' http://www.orpha.net/ORDO/Orphanet_75496 Ehlers-Danlos syndrome, progeroid type 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'inborn errors of metabolism' 'Ehlers-Danlos syndrome, progeroid type' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0000200 Zimmermann-Laband syndrome 'Zimmermann-Laband syndrome' SubClassOf 'bearer_of' some 'rare' 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 'disease has feature' some 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0014855 intellectual disability, autosomal dominant 42 'intellectual disability, autosomal dominant 42' SubClassOf 'autosomal dominant non-syndromic intellectual disability' 'intellectual disability, autosomal dominant 42' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0014873 nevus comedonicus syndrome 'nevus comedonicus syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0700057 neurological pain disorder 'neurological pain disorder' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0012531 'neurological pain disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0012531) 'neurological pain disorder' SubClassOf 'realized in' some 'sensory perception of pain' http://www.ebi.ac.uk/efo/EFO_0007400 oesophagostomiasis 'oesophagostomiasis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007405 optic neuritis 'optic neuritis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000941) 'optic neuritis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000941 http://www.ebi.ac.uk/efo/EFO_0007403 ophthalmic herpes zoster 'ophthalmic herpes zoster' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000348 http://www.ebi.ac.uk/efo/EFO_0007402 onchocerciasis 'onchocerciasis' SubClassOf 'skin disease' 'onchocerciasis' SubClassOf 'disease has feature' some 'blindness (disorder)' 'onchocerciasis' SubClassOf 'disease has feature' some 'exanthem' 'onchocerciasis' SubClassOf 'parasitic skin disorder' http://www.ebi.ac.uk/efo/EFO_0007409 Ornithine transcarbamylase deficiency ornithine carbamoyltransferase deficiency 'Ornithine transcarbamylase deficiency' SubClassOf 'central nervous system tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007408 orbital cancer 'orbital cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001697) http://www.ebi.ac.uk/efo/EFO_0007407 oral tuberculosis 'oral tuberculosis' EquivalentTo 'tuberculosis' and ('disease has inflammation site' some 'mouth') 'oral tuberculosis' SubClassOf 'disease has inflammation site' some 'mouth' http://www.ebi.ac.uk/efo/EFO_0007406 oral candidiasis 'oral candidiasis' EquivalentTo 'candidiasis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mouth') 'oral candidiasis' SubClassOf 'digestive system infectious disorder' http://purl.obolibrary.org/obo/MONDO_0000255 subcutaneous mycosis 'subcutaneous mycosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002072 'subcutaneous mycosis' EquivalentTo 'fungal infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002072) http://purl.obolibrary.org/obo/MONDO_0000254 cutaneous mycosis 'cutaneous mycosis' SubClassOf 'bearer_of' some 'restricted to specific location' 'cutaneous mycosis' EquivalentTo 'fungal infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'integumental system') http://purl.obolibrary.org/obo/MONDO_0000253 piedra 'piedra' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002074 'piedra' EquivalentTo 'fungal infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002074) http://purl.obolibrary.org/obo/MONDO_0000252 inflammatory diarrhea 'inflammatory diarrhea' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001242 'inflammatory diarrhea' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0004786 'inflammatory diarrhea' EquivalentTo 'diarrheal disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001242) 'inflammatory diarrhea' SubClassOf 'disease has inflammation site' some 'mucosa' http://purl.obolibrary.org/obo/MONDO_0000256 systemic mycosis 'systemic mycosis' EquivalentTo 'fungal infectious disease' and ('bearer_of' some 'disseminated') 'systemic mycosis' SubClassOf 'bearer_of' some 'disseminated' http://purl.obolibrary.org/obo/MONDO_0700031 mosaic trisomy 18 'mosaic trisomy 18' SubClassOf 'bearer_of' some 'mosaic' 'mosaic trisomy 18' EquivalentTo 'trisomy 18' and ('bearer_of' some 'mosaic') http://purl.obolibrary.org/obo/MONDO_0700034 mosaic trisomy 13 'mosaic trisomy 13' SubClassOf 'bearer_of' some 'mosaic' 'mosaic trisomy 13' EquivalentTo 'trisomy 13' and ('bearer_of' some 'mosaic') http://purl.obolibrary.org/obo/MONDO_0000263 laryngotracheitis 'laryngotracheitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'larynx') and ('disease has inflammation site' some 'trachea') http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder 'inherited neurodegenerative disorder' EquivalentTo 'neurodegenerative disease' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0007423 parotitis 'parotitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'parotid gland') 'parotitis' SubClassOf 'disease has inflammation site' some 'parotid gland' http://www.ebi.ac.uk/efo/EFO_0007422 parotid disease 'parotid disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'parotid gland' 'parotid disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parotid gland') http://www.ebi.ac.uk/efo/EFO_0007420 paratyphoid fever 'paratyphoid fever' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007427 pericarditis 'pericarditis' SubClassOf 'disease has inflammation site' some 'pericardium' 'pericarditis' EquivalentTo 'disease' and ('disease has inflammation site' some 'pericardium') http://www.ebi.ac.uk/efo/EFO_0007426 pericardial tuberculosis 'pericardial tuberculosis' EquivalentTo 'tuberculosis' and ('disease has inflammation site' some 'pericardium') http://www.ebi.ac.uk/efo/EFO_0007429 peritonsillar abscess 'peritonsillar abscess' SubClassOf 'digestive system infectious disorder' 'peritonsillar abscess' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'palatine tonsil' 'peritonsillar abscess' EquivalentTo 'abscess' and (http://purl.obolibrary.org/obo/RO_0004026 some 'palatine tonsil') http://www.ebi.ac.uk/efo/EFO_0007416 pancreatic endocrine carcinoma 'pancreatic endocrine carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine pancreas') http://purl.obolibrary.org/obo/MONDO_0000271 tuberculous salpingitis 'tuberculous salpingitis' EquivalentTo 'tuberculosis' and ('disease has inflammation site' some 'fallopian tube') http://www.ebi.ac.uk/efo/EFO_0007417 paracoccidioidomycosis 'paracoccidioidomycosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000044 hereditary hypophosphatemic rickets 'hereditary hypophosphatemic rickets' EquivalentTo 'hypophosphatemic rickets' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0007321 hypopharynx cancer 'hypopharynx cancer' EquivalentTo 'pharynx cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hypopharynx') http://www.ebi.ac.uk/efo/EFO_0007327 infectious myxomatosis 'infectious myxomatosis' SubClassOf 'in taxon' some 'Oryctolagus cuniculus' http://www.ebi.ac.uk/efo/EFO_0007325 infectious ectromelia 'infectious ectromelia' SubClassOf 'in taxon' some 'Mus musculus' http://purl.obolibrary.org/obo/MONDO_0700007 idiopathic disease 'idiopathic disease' SubClassOf 'bearer_of' some 'idiopathic' 'idiopathic disease' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'disease has feature' some 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0700003 obstetric disorder 'obstetric disorder' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0007313 HIV-associated nephropathy 'HIV-associated nephropathy' EquivalentTo 'AIDS-related disease' and ('disease has feature' some 'kidney disease') 'HIV-associated nephropathy' SubClassOf 'disease has feature' some 'kidney disease' 'HIV-associated nephropathy' SubClassOf 'urinary tract infection' http://www.ebi.ac.uk/efo/EFO_0007311 HIV enteropathy 'HIV enteropathy' EquivalentTo 'AIDS-related disease' and ('disease has feature' some 'intestinal disease') 'HIV enteropathy' SubClassOf 'disease has feature' some 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0007310 histoplasmosis 'histoplasmosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007317 hymenolepiasis 'hymenolepiasis' SubClassOf 'bearer_of' some 'rare' 'hymenolepiasis' SubClassOf 'digestive system disease' 'hymenolepiasis' SubClassOf 'disease has feature' some 'anemia' 'hymenolepiasis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007315 hordeolum 'hordeolum' SubClassOf 'disease has feature' some 'blepharitis' 'hordeolum' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0013229 'hordeolum' EquivalentTo 'blepharitis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0013229) http://www.ebi.ac.uk/efo/EFO_0007319 hyperprolactinemia 'hyperprolactinemia' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0000870 http://www.ebi.ac.uk/efo/EFO_0007318 hyperinsulinemic hypoglycemia 'hyperinsulinemic hypoglycemia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007342 legionellosis 'legionellosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007347 listeriosis 'listeriosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000062 isolated microphthalmia 'isolated microphthalmia' EquivalentTo 'microphthalmia' and ('bearer_of' some 'has an isolated presentation') 'isolated microphthalmia' SubClassOf 'microphthalmia' 'isolated microphthalmia' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated microphthalmia' SubClassOf 'microphthalmia' http://www.ebi.ac.uk/efo/EFO_0007331 islet cell tumor 'islet cell tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine pancreas') http://www.ebi.ac.uk/efo/EFO_0007330 intestinal cancer 'intestinal cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'intestine') http://www.ebi.ac.uk/efo/EFO_0007333 jaw cancer 'jaw cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001708) http://www.ebi.ac.uk/efo/EFO_0007338 Lassa fever 'Lassa fever' EquivalentTo 'viral hemorrhagic fever' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Lassa virus') http://www.ebi.ac.uk/efo/EFO_0007337 laryngeal tuberculosis 'laryngeal tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'larynx') http://www.ebi.ac.uk/efo/EFO_0007336 Langerhans cell sarcoma 'Langerhans cell sarcoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'Langerhans cell' 'Langerhans cell sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'Langerhans cell') http://www.ebi.ac.uk/efo/EFO_0007364 meningoencephalitis 'meningoencephalitis' SubClassOf 'disease has inflammation site' some 'meningeal cluster' 'meningoencephalitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'brain') and ('disease has inflammation site' some 'meningeal cluster') http://purl.obolibrary.org/obo/MONDO_0000088 precocious puberty 'precocious puberty' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0003006 http://www.ebi.ac.uk/efo/EFO_0007362 mediastinal cancer 'mediastinal cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mediastinum') http://purl.obolibrary.org/obo/MONDO_0000087 polymicrogyria 'polymicrogyria' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007361 maxillary sinusitis 'maxillary sinusitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001764 'maxillary sinusitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001764) http://www.ebi.ac.uk/efo/EFO_0007366 microsporidiosis 'microsporidiosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007353 lymphogranuloma venereum 'lymphogranuloma venereum' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'lymph' 'lymphogranuloma venereum' EquivalentTo 'granuloma inguinale' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lymph') http://www.ebi.ac.uk/efo/EFO_0007352 lymphatic system disease 'lymphatic system disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lymphatic part of lymphoid system') 'lymphatic system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'lymphatic part of lymphoid system' http://www.ebi.ac.uk/efo/EFO_0007351 lymphangitis 'lymphangitis' SubClassOf 'disease has inflammation site' some 'lymphatic vessel' 'lymphangitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'lymphatic vessel') http://www.ebi.ac.uk/efo/EFO_0007350 lymph node tuberculosis 'lymph node tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lymph node') http://www.ebi.ac.uk/efo/EFO_0007357 mansonelliasis 'mansonelliasis' SubClassOf 'skin disease' 'mansonelliasis' SubClassOf 'parasitic skin disorder' http://www.ebi.ac.uk/efo/EFO_0007356 mandibular cancer 'mandibular cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mandible') 'mandibular cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mandible' http://www.ebi.ac.uk/efo/EFO_0007355 male reproductive organ cancer 'male reproductive organ cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003135) http://www.ebi.ac.uk/efo/EFO_0007360 maxillary neoplasm 'maxillary neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0011597) 'maxillary neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0011597 http://www.ebi.ac.uk/efo/EFO_0007386 Mycobacterium avium complex disease 'Mycobacterium avium complex disease' SubClassOf http://purl.obolibrary.org/obo/RO_0002451 some 'Bacteria' http://www.ebi.ac.uk/efo/EFO_0007384 muscle cancer 'muscle cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005090 'muscle cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005090) http://www.ebi.ac.uk/efo/EFO_0007389 myiasis 'myiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007393 neuroaspergillosis 'neuroaspergillosis' SubClassOf 'central nervous system disease' 'neuroaspergillosis' SubClassOf 'central nervous system infection' http://www.ebi.ac.uk/efo/EFO_0007392 nervous system cancer 'nervous system cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nervous system') http://www.ebi.ac.uk/efo/EFO_0007390 necatoriasis 'necatoriasis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007374 mixed connective tissue disease 'mixed connective tissue disease' SubClassOf 'autoimmune disorder of musculoskeletal system' http://www.ebi.ac.uk/efo/EFO_0007380 mucormycosis 'mucormycosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007397 nocardiosis 'nocardiosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007394 neuroschistosomiasis 'neuroschistosomiasis' EquivalentTo 'schistosomiasis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://www.ebi.ac.uk/efo/EFO_0007399 ocular toxoplasmosis 'ocular toxoplasmosis' EquivalentTo 'toxoplasmosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyeball of camera-type eye') http://www.ebi.ac.uk/efo/EFO_0007398 ocular onchocerciasis 'ocular onchocerciasis' EquivalentTo 'onchocerciasis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyeball of camera-type eye') http://purl.obolibrary.org/obo/HP_0007754 Macular dystrophy 'Macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0000556 http://www.orpha.net/ORDO/Orphanet_75376 Familial drusen 'Familial drusen' SubClassOf 'Retinal dystrophy' 'Familial drusen' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0014702 autosomal recessive complex spastic paraplegia type 9B 'autosomal recessive complex spastic paraplegia type 9B' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014731 seizures-scoliosis-macrocephaly syndrome 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'congenital' 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_0014772 orofacial cleft 15 'orofacial cleft 15' SubClassOf 'bearer_of' some 'has an isolated presentation' http://www.ebi.ac.uk/efo/EFO_0007302 hepatic tuberculosis 'hepatic tuberculosis' SubClassOf 'disease has inflammation site' some 'liver' 'hepatic tuberculosis' EquivalentTo 'tuberculosis' and ('disease has inflammation site' some 'liver') http://www.ebi.ac.uk/efo/EFO_0007306 herpangina 'herpangina' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007304 hepatitis D virus infection 'hepatitis D virus infection' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000141 mosaic variegated aneuploidy syndrome 'mosaic variegated aneuploidy syndrome' SubClassOf 'hereditary neoplastic syndrome' 'mosaic variegated aneuploidy syndrome' SubClassOf 'bearer_of' some 'mosaic' '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 'digestive system infectious disorder' http://purl.obolibrary.org/obo/MONDO_0014789 CCDC115-CDG 'CCDC115-CDG' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000156 trigonocephaly 'trigonocephaly' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0000243 http://purl.obolibrary.org/obo/MONDO_0000152 thiamine-responsive dysfunction syndrome 'thiamine-responsive dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some http://purl.obolibrary.org/obo/CHEBI_26948 http://purl.obolibrary.org/obo/MONDO_0014795 exercise intolerance, riboflavin-responsive 'exercise intolerance, riboflavin-responsive' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some http://purl.obolibrary.org/obo/CHEBI_17015 http://purl.obolibrary.org/obo/MONDO_0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome 'microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf 'bearer_of' some 'rare' 'microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0014790 TMEM199-CDG 'TMEM199-CDG' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014567 glutamate pyruvate transaminase 2 deficiency 'glutamate pyruvate transaminase 2 deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014561 3-methylglutaconic aciduria, type VIIB '3-methylglutaconic aciduria, type VIIB' SubClassOf 'disease has feature' some 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'hereditary motor neuron disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type D' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'hereditary motor neuron disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type A' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'hereditary motor neuron disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type C' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'hereditary motor neuron disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 'microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'syndromic disease' 'microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957553 http://purl.obolibrary.org/obo/MONDO_0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 'intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957553 http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'genetic disorder' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'bearer_of' some 'rare' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'hereditary disorder of connective tissue' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 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 with motor neuron disease' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 4' SubClassOf 'frontotemporal dementia with motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0000009 inherited bleeding disorder, platelet-type 'inherited bleeding disorder, platelet-type' SubClassOf 'hemorrhagic disease' 'inherited bleeding disorder, platelet-type' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0014659 infantile liver failure syndrome 2 'infantile liver failure syndrome 2' SubClassOf 'bearer_of' some 'rare' 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_0700223 hereditary skeletal muscle disorder 'hereditary skeletal muscle disorder' EquivalentTo 'skeletal muscle disorder' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0700225 hereditary gallbladder disorder 'hereditary gallbladder disorder' EquivalentTo 'gallbladder disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0700220 disease related to transplantation 'disease related to transplantation' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0014471 mitochondrial proton-transporting ATP synthase complex deficiency 'mitochondrial proton-transporting ATP synthase complex deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005753 'mitochondrial proton-transporting ATP synthase complex deficiency' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005753) http://www.ebi.ac.uk/efo/EFO_0007501 strongyloidiasis 'strongyloidiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007507 thoracic outlet syndrome 'thoracic outlet syndrome' SubClassOf 'nervous system disease' 'thoracic outlet syndrome' SubClassOf 'bearer_of' some 'rare' 'thoracic outlet syndrome' SubClassOf 'neurovascular disorder' http://purl.obolibrary.org/obo/MONDO_0014528 chronic atrial and intestinal dysrhythmia 'chronic atrial and intestinal dysrhythmia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007524 trichuriasis 'trichuriasis' SubClassOf 'disease has feature' some 'dysentery' 'trichuriasis' SubClassOf 'disease has feature' some 'hypochromic anemia' 'trichuriasis' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0007527 tropical spastic paraparesis 'tropical spastic paraparesis' SubClassOf 'central nervous system infection' http://www.ebi.ac.uk/efo/EFO_0007510 tinea 'tinea' EquivalentTo 'fungal infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://www.ebi.ac.uk/efo/EFO_0007512 tinea pedis 'tinea pedis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pes' 'tinea pedis' EquivalentTo 'dermatophytosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pes') http://www.ebi.ac.uk/efo/EFO_0007519 trench fever 'trench fever' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007518 tracheitis 'tracheitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'trachea') 'tracheitis' SubClassOf 'disease has inflammation site' some 'trachea' 'tracheitis' SubClassOf 'disease has inflammation site' some 'mucosa' 'tracheitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000379 http://www.ebi.ac.uk/efo/EFO_0007516 toxocariasis 'toxocariasis' SubClassOf 'disease has feature' some 'blindness (disorder)' 'toxocariasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007543 vulvovaginal candidiasis 'vulvovaginal candidiasis' EquivalentTo 'candidiasis' and ('disease has inflammation site' some 'vagina') and ('disease has inflammation site' some 'mammalian vulva') http://www.ebi.ac.uk/efo/EFO_0007541 viral pneumonia 'viral pneumonia' EquivalentTo 'pneumonia' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Virus') http://www.ebi.ac.uk/efo/EFO_0007545 West Nile encephalitis 'West Nile encephalitis' EquivalentTo 'infectious encephalitis' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'West Nile virus') http://www.ebi.ac.uk/efo/EFO_0007549 Zollinger-Ellison Syndrome 'Zollinger-Ellison Syndrome' SubClassOf 'disease has feature' some 'pancreatic neuroendocrine tumor' 'Zollinger-Ellison Syndrome' SubClassOf 'disease has feature' some 'gastric ulcer' 'Zollinger-Ellison Syndrome' SubClassOf 'disease has feature' some 'duodenal neuroendocrine tumor, well differentiated, low or intermediate grade' 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 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007532 uterine corpus cancer 'uterine corpus cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://www.ebi.ac.uk/efo/EFO_0007531 urogenital tuberculosis 'urogenital tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'genitourinary system') 'urogenital tuberculosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'genitourinary system' http://www.ebi.ac.uk/efo/EFO_0007530 urinary schistosomiasis 'urinary schistosomiasis' EquivalentTo 'schistosomiasis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') http://www.ebi.ac.uk/efo/EFO_0007537 vestibular neuronitis 'vestibular neuronitis' EquivalentTo 'neuritis' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0003723) 'vestibular neuronitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0003723 http://www.ebi.ac.uk/efo/EFO_0007538 viral encephalitis 'viral encephalitis' EquivalentTo 'encephalitis' and 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Virus') 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0003728 mediastinum 'mediastinum' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002224 http://www.orpha.net/ORDO/Orphanet_83420 Proximal spinal muscular atrophy type 4 'Proximal spinal muscular atrophy type 4' SubClassOf 'hereditary motor neuron disease' http://www.orpha.net/ORDO/Orphanet_83419 Proximal spinal muscular atrophy type 3 'Proximal spinal muscular atrophy type 3' SubClassOf 'hereditary motor neuron disease' http://www.orpha.net/ORDO/Orphanet_83418 Proximal spinal muscular atrophy type 2 'Proximal spinal muscular atrophy type 2' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 'congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009814 osteopenia-intellectual disability-sparse hair syndrome 'osteopenia-intellectual disability-sparse hair syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'bearer_of' some 'congenital' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010814 chondrodysplasia-pseudohermaphroditism syndrome 'chondrodysplasia-pseudohermaphroditism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010816 Qazi Markouizos syndrome 'Qazi Markouizos syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009833 Shwachman-Diamond syndrome 'Shwachman-Diamond syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010824 disorder of sex development-intellectual disability syndrome 'disorder of sex development-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009859 PHAVER syndrome 'PHAVER syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009857 persistent Mullerian duct syndrome 'persistent Mullerian duct syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001512 endometrial carcinoma 'endometrial carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') http://www.ebi.ac.uk/efo/EFO_1001511 monogenic diabetes 'monogenic diabetes' EquivalentTo 'diabetes mellitus' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_1001518 heavy metal poisoning 'heavy metal poisoning' SubClassOf 'bearer_of' some 'rare' '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 'disease has feature' some 'glomerulosclerosis' 'renal fibrosis' SubClassOf 'glomerulosclerosis' 'renal fibrosis' SubClassOf 'kidney neoplasm' http://www.ebi.ac.uk/efo/EFO_1001515 ovarian endometrioid carcinoma 'ovarian endometrioid carcinoma' SubClassOf 'ovarian disease' 'ovarian endometrioid carcinoma' SubClassOf 'ovarian adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1001514 endometrial endometrioid carcinoma 'endometrial endometrioid carcinoma' SubClassOf 'endometrial carcinoma' 'endometrial endometrioid carcinoma' SubClassOf 'endometrium adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0010840 pachygyria-intellectual disability-epilepsy syndrome 'pachygyria-intellectual disability-epilepsy syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001513 liver neoplasm 'liver neoplasm' SubClassOf 'neoplasm' 'liver neoplasm' SubClassOf 'liver disease' 'liver neoplasm' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0009868 glycogen storage disease IXb 'glycogen storage disease IXb' SubClassOf 'bearer_of' some 'rare' 'glycogen storage disease IXb' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0004689 http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart 'lethal congenital glycogen storage disease of heart' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010855 short tarsus-absence of lower eyelashes syndrome 'short tarsus-absence of lower eyelashes syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019206 sparse hair-short stature-skin anomalies syndrome 'sparse hair-short stature-skin anomalies syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'sparse hair-short stature-skin anomalies syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020213 stromal corneal dystrophy 'stromal corneal dystrophy' EquivalentTo 'corneal dystrophy' and (http://purl.obolibrary.org/obo/RO_0004026 some 'substantia propria of cornea') 'stromal corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'substantia propria of cornea' http://purl.obolibrary.org/obo/MONDO_0009895 postaxial polydactyly-dental and vertebral anomalies syndrome 'postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010888 adenomyosis 'adenomyosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'myometrium' 'adenomyosis' EquivalentTo 'endometrial disorder' and (http://purl.obolibrary.org/obo/RO_0004026 some 'myometrium') http://purl.obolibrary.org/obo/MONDO_0020214 posterior corneal dystrophy 'posterior corneal dystrophy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004367 http://purl.obolibrary.org/obo/MONDO_0019212 disseminated superficial actinic porokeratosis 'disseminated superficial actinic porokeratosis' SubClassOf 'bearer_of' some 'disseminated' http://purl.obolibrary.org/obo/MONDO_0020204 conjunctival tumor 'conjunctival tumor' SubClassOf 'bearer_of' some 'rare' 'conjunctival tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'conjunctiva') http://purl.obolibrary.org/obo/MONDO_0019239 inborn disorder of serine family metabolism 'inborn disorder of serine family metabolism' SubClassOf 'amino acid metabolism disease' 'inborn disorder of serine family metabolism' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019245 lysosomal lipid storage disorder 'lysosomal lipid storage disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0016042 http://purl.obolibrary.org/obo/MONDO_0019242 inborn disorder of branched-chain amino acid metabolism 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'amino acid metabolism disease' http://www.ebi.ac.uk/efo/EFO_0011063 recessive lissencephaly 'recessive lissencephaly' SubClassOf 'Lissencephaly' 'recessive lissencephaly' SubClassOf 'Cerebral malformation with epilepsy' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019257 hemochromatosis type 2 'hemochromatosis type 2' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019254 inborn disorder of purine or pyrimidine metabolism 'inborn disorder of purine or pyrimidine metabolism' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'nucleotide metabolic process' 'inborn disorder of purine or pyrimidine metabolism' EquivalentTo 'inborn errors of metabolism' and (http://purl.obolibrary.org/obo/RO_0004024 some 'nucleotide metabolic process') http://purl.obolibrary.org/obo/MONDO_0019272 hereditary palmoplantar keratoderma 'hereditary palmoplantar keratoderma' EquivalentTo 'palmoplantar keratosis' and ('bearer_of' some 'inherited') 'hereditary palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' 'hereditary palmoplantar keratoderma' SubClassOf 'palmoplantar keratosis' http://www.ebi.ac.uk/efo/EFO_0011057 neurotoxicity 'neurotoxicity' SubClassOf 'nervous system disease' 'neurotoxicity' SubClassOf 'nervous system injury' http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy 'inherited vitreoretinopathy' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0007773 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0007773) http://purl.obolibrary.org/obo/MONDO_0020242 hereditary macular 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') http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy 'hereditary optic neuropathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease 'epidermal disease' SubClassOf 'bearer_of' some 'rare' 'epidermal disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'skin epidermis' 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_0019284 inherited isolated nail anomaly 'inherited isolated nail anomaly' SubClassOf 'bearer_of' some 'has an isolated presentation' 'inherited isolated nail anomaly' EquivalentTo 'nail disorder' and ('bearer_of' some 'has an isolated presentation') and ('bearer_of' some 'inherited') 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_0019278 hair anomaly 'hair anomaly' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002074 http://purl.obolibrary.org/obo/MONDO_0019276 inherited epidermolysis bullosa 'inherited epidermolysis bullosa' EquivalentTo 'epidermolysis bullosa' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019293 skin vascular disease 'skin vascular disease' EquivalentTo 'disease' and 'skin disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vasculature') and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0035549) 'skin vascular disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0035549 http://purl.obolibrary.org/obo/MONDO_0019294 mixed dermis disorder 'mixed dermis disorder' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019290 hypopigmentation of the skin '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' http://purl.obolibrary.org/obo/MONDO_0044211 idiopathic urticaria 'idiopathic urticaria' EquivalentTo 'urticaria' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin 'hyperpigmentation of the skin' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0000953 'hyperpigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0000953) http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome 'ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo#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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020290 familial atrioventricular septal defect 'familial atrioventricular septal defect' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005989 http://purl.obolibrary.org/obo/MONDO_0020295 congenital pulmonary veins anomaly 'congenital pulmonary veins anomaly' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019296 subcutaneous tissue disorder 'subcutaneous tissue disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0011818 http://purl.obolibrary.org/obo/MONDO_0020289 congenital tricuspid malformation 'congenital tricuspid malformation' SubClassOf 'bearer_of' some 'congenital' 'congenital tricuspid malformation' EquivalentTo 'disease' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0001702) 'congenital tricuspid malformation' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001702 http://www.orpha.net/ORDO/Orphanet_2653 Osteochondrodysplatic nanism - deafness - retinitis pigmentosa 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Retinal dystrophy' 'Osteochondrodysplatic nanism - deafness - retinitis pigmentosa' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_34528 Autosomal dominant primary hypomagnesemia with hypocalciuria 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'inborn errors of metabolism' 'Autosomal dominant primary hypomagnesemia with hypocalciuria' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_2666 Adult familial nephronophthisis - spastic quadriparesia 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'inherited kidney disorder' 'Adult familial nephronophthisis - spastic quadriparesia' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/HP_0003086 Acromesomelia 'Acromesomelia' SubClassOf 'Limb undergrowth' 'Acromesomelia' SubClassOf http://purl.obolibrary.org/obo/HP_0003027 http://www.orpha.net/ORDO/Orphanet_2612 Linear nevus sebaceus syndrome 'Linear nevus sebaceus syndrome' SubClassOf 'hereditary skin disorder' http://purl.obolibrary.org/obo/MONDO_0009705 carnitine palmitoyl transferase 1A deficiency 'carnitine palmitoyl transferase 1A deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0019395 http://purl.obolibrary.org/obo/MONDO_0009719 familial atrial myxoma 'familial atrial myxoma' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0001645 coronary artery disease 'coronary artery disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'heart' 'coronary artery disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'coronary artery') 'coronary artery disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'coronary artery' http://purl.obolibrary.org/obo/MONDO_0009729 nephropathy - deafness - hyperparathyroidism syndrome 'nephropathy - deafness - hyperparathyroidism syndrome' SubClassOf 'syndromic disease' 'nephropathy - deafness - hyperparathyroidism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009727 atelosteogenesis type II 'atelosteogenesis type II' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009726 proteosome-associated autoinflammatory syndrome 'proteosome-associated autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' 'proteosome-associated autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 http://purl.obolibrary.org/obo/MONDO_0009720 Keipert syndrome 'Keipert syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 'sialidosis type 2' SubClassOf 'disease has feature' some 'nephrosis' http://www.ebi.ac.uk/efo/EFO_0001663 prostate carcinoma 'prostate carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'prostate gland') http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome 'Rett syndrome' SubClassOf 'bearer_of' some 'rare' 'Rett syndrome' SubClassOf 'disease has feature' some 'autism' http://www.ebi.ac.uk/efo/EFO_0001668 human papilloma virus infection 'human papilloma virus infection' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Human papillomavirus') 'human papilloma virus infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'Human papillomavirus' http://purl.obolibrary.org/obo/MONDO_0009742 neuroectodermal melanolysosomal disease 'neuroectodermal melanolysosomal disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0003690 fused sacrum 'fused sacrum' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001130 http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010742 pentalogy of Cantrell 'pentalogy of Cantrell' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009767 oculocerebral hypopigmentation syndrome, Cross type 'oculocerebral hypopigmentation syndrome, Cross type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010754 van den Bosch syndrome 'van den Bosch syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010759 Wildervanck syndrome 'Wildervanck syndrome' SubClassOf 'disease has feature' some 'Klippel-Feil syndrome' 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/vater association' http://purl.obolibrary.org/obo/MONDO_0010773 mitochondrial myopathy with diabetes 'mitochondrial myopathy with diabetes' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019101 retinal capillary malformation 'retinal capillary malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009798 Primrose syndrome 'Primrose syndrome' SubClassOf 'bearer_of' some 'rare' 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 'megaloblastic anemia' http://purl.obolibrary.org/obo/MONDO_0020119 X-linked syndromic intellectual disability 'X-linked syndromic intellectual disability' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy 'inherited retinal dystrophy' EquivalentTo 'retinal degeneration' and ('bearer_of' some 'inherited') 'inherited retinal dystrophy' SubClassOf http://purl.obolibrary.org/obo/RO_0004025 some 'retina' http://purl.obolibrary.org/obo/MONDO_0020117 alpha granule disease 'alpha granule disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0031091 http://purl.obolibrary.org/obo/MONDO_0010786 chronic diarrhea with villous atrophy 'chronic diarrhea with villous atrophy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010785 maternally-inherited diabetes and deafness 'maternally-inherited diabetes and deafness' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019111 familial thrombocytosis 'familial thrombocytosis' EquivalentTo 'thrombocytosis disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019129 global developmental delay-osteopenia-ectodermal defect syndrome 'global developmental delay-osteopenia-ectodermal defect syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia 'mullerian aplasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019139 acquired hemophilia 'acquired hemophilia' EquivalentTo 'hemophilia' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020124 neuromuscular junction disease 'neuromuscular junction disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0031594 'neuromuscular junction disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0031594) http://purl.obolibrary.org/obo/MONDO_0020120 skeletal muscle disorder 'skeletal muscle disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'skeletal muscle tissue') 'skeletal muscle disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'skeletal muscle tissue' http://purl.obolibrary.org/obo/MONDO_0020129 acquired motor neuron disease 'acquired motor neuron disease' SubClassOf 'bearer_of' some 'acquired' 'acquired motor neuron disease' EquivalentTo 'motor neuron disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020127 hereditary peripheral neuropathy 'hereditary peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and ('bearer_of' some 'inherited') 'hereditary peripheral neuropathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019142 inherited porphyria 'inherited porphyria' EquivalentTo 'porphyria' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019145 hereditary thrombophilia due to congenital protein C deficiency 'hereditary thrombophilia due to congenital protein C deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0030195 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 'protein S deficiency' http://www.orpha.net/ORDO/Orphanet_2579 Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Retinal dystrophy' 'Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion 'congenital entropion' SubClassOf 'bearer_of' some 'congenital' 'congenital entropion' SubClassOf 'entropion' 'congenital entropion' SubClassOf 'entropion' http://purl.obolibrary.org/obo/MONDO_0019154 androgen insensitivity syndrome 'androgen insensitivity syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019171 familial long QT syndrome 'familial long QT syndrome' SubClassOf 'disease has feature' some 'torsades de pointes' http://purl.obolibrary.org/obo/MONDO_0020143 cerebral lipidosis with dementia 'cerebral lipidosis with dementia' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0019169 pyruvate dehydrogenase deficiency 'pyruvate dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0045254 'pyruvate dehydrogenase deficiency' EquivalentTo 'inborn errors of metabolism' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0045254) http://purl.obolibrary.org/obo/MONDO_0020172 palpebral epidermal tumor 'palpebral epidermal tumor' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001457) 'palpebral epidermal tumor' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001457 http://purl.obolibrary.org/obo/MONDO_0019182 inherited obesity 'inherited obesity' EquivalentTo 'obesity' and ('bearer_of' some 'inherited') 'inherited obesity' SubClassOf 'bearer_of' some 'rare' 'inherited obesity' SubClassOf 'inborn errors of metabolism' 'inherited obesity' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019181 non-syndromic X-linked intellectual disability 'non-syndromic X-linked intellectual disability' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia 'hereditary hemorrhagic telangiectasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020179 palpebral nevus 'palpebral nevus' EquivalentTo 'melanocytic nevus' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001457) http://purl.obolibrary.org/obo/MONDO_0020175 malignant tumor of palpebral epidermis 'malignant tumor of palpebral epidermis' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001457) http://www.orpha.net/ORDO/Orphanet_2510 Micro syndrome 'Micro syndrome' SubClassOf 'Rare genetic intellectual disability with developmental anomaly' 'Micro syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0020173 benign tumor of palpebral epidermis 'benign tumor of palpebral epidermis' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001457) http://purl.obolibrary.org/obo/MONDO_0020161 congenital ectropion 'congenital ectropion' SubClassOf 'ectropion' 'congenital ectropion' SubClassOf 'bearer_of' some 'congenital' 'congenital ectropion' SubClassOf 'ectropion' http://purl.obolibrary.org/obo/MONDO_0019193 acquired generalized lipodystrophy 'acquired generalized lipodystrophy' EquivalentTo 'generalized lipodystrophy' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0019191 IgG4-related dacryoadenitis and sialadenitis 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'bearer_of' some 'rare' 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 http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006082 'inborn disorder of amino acid and other organic acid metabolism' EquivalentTo 'inborn errors of metabolism' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0006082) http://www.ebi.ac.uk/efo/EFO_1001312 Endometritis 'Endometritis' SubClassOf 'disease has inflammation site' some 'endometrium' 'Endometritis' SubClassOf 'disease has inflammation site' some 'mucosa' 'Endometritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'endometrium') http://www.ebi.ac.uk/efo/EFO_1001324 Fascioliasis 'Fascioliasis' SubClassOf 'disease has feature' some 'anemia' 'Fascioliasis' SubClassOf 'disease has feature' some 'exanthem' http://www.ebi.ac.uk/efo/EFO_1001320 Exanthema Subitum 'Exanthema Subitum' SubClassOf 'exanthem' 'Exanthema Subitum' SubClassOf 'exanthem' http://www.ebi.ac.uk/efo/EFO_1001331 Genital neoplasm, female 'Genital neoplasm, female' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003134) 'Genital neoplasm, female' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003134 http://www.ebi.ac.uk/efo/EFO_1001339 Heart neoplasm 'Heart neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'heart') 'Heart neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'heart' http://www.ebi.ac.uk/efo/EFO_1001345 Hepatitis, Alcoholic 'Hepatitis, Alcoholic' SubClassOf 'disease has inflammation site' some 'liver' http://www.ebi.ac.uk/efo/EFO_1001344 Hemarthrosis 'Hemarthrosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'limb' http://www.ebi.ac.uk/efo/EFO_1001343 Hemangioma, Cavernous, Central Nervous System 'Hemangioma, Cavernous, Central Nervous System' SubClassOf 'central nervous system disease' 'Hemangioma, Cavernous, Central Nervous System' SubClassOf 'central nervous system hematopoietic neoplasm' 'Hemangioma, Cavernous, Central Nervous System' SubClassOf 'central nervous system hemangioma' http://www.ebi.ac.uk/efo/EFO_1001349 Human T-lymphotropic virus 2 infectious disease 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001354 Kleine-Levin Syndrome 'Kleine-Levin Syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001375 Myocardial Ischemia 'Myocardial Ischemia' SubClassOf 'myocardial disorder' 'Myocardial Ischemia' SubClassOf 'myocardial disorder' 'Myocardial Ischemia' EquivalentTo 'ischemic disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'myocardium') http://www.ebi.ac.uk/efo/EFO_1001383 Opsoclonus-Myoclonus Syndrome 'Opsoclonus-Myoclonus Syndrome' SubClassOf 'paraneoplastic neurologic syndrome' 'Opsoclonus-Myoclonus Syndrome' SubClassOf 'paraneoplastic neurologic syndrome' http://www.ebi.ac.uk/efo/EFO_1001388 Pelvic Inflammatory Disease 'Pelvic Inflammatory Disease' SubClassOf 'disease has inflammation site' some 'female reproductive system' 'Pelvic Inflammatory Disease' EquivalentTo 'disease' and ('disease has inflammation site' some 'female reproductive system') and ('disease has inflammation site' some 'pelvic region of trunk') 'Pelvic Inflammatory Disease' SubClassOf 'disease has inflammation site' some 'pelvic region of trunk' http://www.ebi.ac.uk/efo/EFO_1001385 Paralysis, Obstetric 'Paralysis, Obstetric' SubClassOf 'nervous system disease' 'Paralysis, Obstetric' SubClassOf 'injury' 'Paralysis, Obstetric' SubClassOf 'nervous system injury' http://purl.obolibrary.org/obo/HP_0003326 Myalgia 'Myalgia' SubClassOf 'Constitutional symptom' 'Myalgia' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://www.orpha.net/ORDO/Orphanet_250165 Genetic polycythemia 'Genetic polycythemia' SubClassOf 'familial polycythemia' 'Genetic polycythemia' SubClassOf 'polycythemia' http://purl.obolibrary.org/obo/MONDO_0009618 microcephaly-cardiomyopathy syndrome 'microcephaly-cardiomyopathy syndrome' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0001644 http://purl.obolibrary.org/obo/MONDO_0010602 hemophilia A 'hemophilia A' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0003810 'hemophilia A' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0003125 http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome 'Galloway-Mowat syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009624 microcephaly and chorioretinopathy 1 'microcephaly and chorioretinopathy 1' SubClassOf 'disease has feature' some 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome 'Nijmegen breakage syndrome' SubClassOf 'bearer_of' some 'rare' 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 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0002410 http://purl.obolibrary.org/obo/MONDO_0010614 X-linked congenital generalized hypertrichosis 'X-linked congenital generalized hypertrichosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010639 laryngeal abductor paralysis-intellectual disability syndrome 'laryngeal abductor paralysis-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009653 mucolipidosis type IV 'mucolipidosis type IV' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010649 isolated congenital megalocornea 'isolated congenital megalocornea' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/HP_0003274 Hypoplastic acetabulae 'Hypoplastic acetabulae' SubClassOf 'Abnormality of the lower limb' 'Hypoplastic acetabulae' SubClassOf 'Abnormal skeletal morphology' 'Hypoplastic acetabulae' SubClassOf http://purl.obolibrary.org/obo/HP_0001384 http://purl.obolibrary.org/obo/MONDO_0009664 mulibrey nanism 'mulibrey nanism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome 'intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor 'kidney Wilms tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome 'familial idiopathic steroid-resistant nephrotic syndrome' EquivalentTo 'idiopathic nephrotic syndrome' and 'steroid-resistant nephrotic syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020010 infectious disorder of the nervous system 'infectious disorder of the nervous system' SubClassOf 'bearer_of' some 'rare' 'infectious disorder of the nervous system' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nervous system') http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation 'respiratory or thoracic malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019022 sensorineural hearing loss-early graying-essential tremor syndrome 'sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal disorder 'chromosomal disorder' SubClassOf 'bearer_of' some 'rare' 'chromosomal disorder' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome 'multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019037 progressive supranuclear palsy 'progressive supranuclear palsy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy 'inherited hemoglobinopathy' EquivalentTo 'hemoglobinopathy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease 'peroxisomal disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005777 'peroxisomal disease' EquivalentTo 'inborn errors of metabolism' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005777) http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism 'inborn errors of metabolism' EquivalentTo 'metabolic disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation 'central nervous system malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy 'leukodystrophy' SubClassOf 'bearer_of' some 'rare' 'leukodystrophy' SubClassOf 'disease has major feature' some 'CNS hypomyelination' http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation 'congenital limb malformation' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019072 intrahepatic cholestasis 'intrahepatic cholestasis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019075 Bosley-Salih-Alorainy syndrome 'Bosley-Salih-Alorainy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020049 autosomal anomaly 'autosomal anomaly' EquivalentTo 'chromosomal disorder' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/GO_0030849) 'autosomal anomaly' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/GO_0030849 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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019083 Leigh syndrome with cardiomyopathy 'Leigh syndrome with cardiomyopathy' SubClassOf 'disease has feature' some 'cardiomyopathy' 'Leigh syndrome with cardiomyopathy' EquivalentTo 'Leigh syndrome' and ('disease has feature' some 'cardiomyopathy') http://purl.obolibrary.org/obo/MONDO_0019078 Ritscher-Schinzel syndrome 'Ritscher-Schinzel syndrome' SubClassOf 'disease has feature' some 'Dandy-Walker syndrome' http://purl.obolibrary.org/obo/MONDO_0020099 inherited sideroblastic anemia 'inherited sideroblastic anemia' EquivalentTo 'sideroblastic anemia' and ('bearer_of' some 'inherited') 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_0020089 acquired lipodystrophy 'acquired lipodystrophy' EquivalentTo 'lipodystrophy' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020088 familial partial lipodystrophy 'familial partial lipodystrophy' EquivalentTo 'partial lipodystrophy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020087 hereditary lipodystrophy 'hereditary lipodystrophy' EquivalentTo 'lipodystrophy' and ('bearer_of' some 'inherited') http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome 'Alopecia-intellectual disability syndrome' SubClassOf 'hereditary skin disorder' 'Alopecia-intellectual disability syndrome' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1001435 tenosynovitis 'tenosynovitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000304 'tenosynovitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0000304) http://www.ebi.ac.uk/efo/EFO_1001434 Tendinopathy 'Tendinopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000043 'Tendinopathy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000043) http://www.ebi.ac.uk/efo/EFO_1001430 Sublingual Gland Neoplasms 'Sublingual Gland Neoplasms' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001832) 'Sublingual Gland Neoplasms' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001832 http://www.ebi.ac.uk/efo/EFO_1001437 Tracheal neoplasm 'Tracheal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'trachea') http://www.ebi.ac.uk/efo/EFO_1001445 Tungiasis 'Tungiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001444 Tularemia 'Tularemia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001443 Tuberculosis, Cutaneous 'Tuberculosis, Cutaneous' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'placenta') http://www.ebi.ac.uk/efo/EFO_1001442 cardiac tuberculosis 'cardiac tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'heart') 'cardiac tuberculosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'heart' http://www.ebi.ac.uk/efo/EFO_1001449 Vertebrobasilar insufficiency 'Vertebrobasilar insufficiency' SubClassOf 'disease has feature' some 'brain ischemia' http://www.ebi.ac.uk/efo/EFO_1001447 Vaginal neoplasm 'Vaginal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vagina') http://www.ebi.ac.uk/efo/EFO_1001456 central nervous system infection 'central nervous system infection' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://www.ebi.ac.uk/efo/EFO_1001455 auditory system disease 'auditory system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0016490 'auditory system disease' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_1001467 Hypereosinophilic syndrome 'Hypereosinophilic syndrome' SubClassOf 'disease has feature' some 'chronic myeloproliferative disorder' 'Hypereosinophilic syndrome' SubClassOf 'familial restrictive cardiomyopathy' 'Hypereosinophilic syndrome' SubClassOf 'disease has major feature' some 'Eosinophilia' 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Eosinophilia') http://www.ebi.ac.uk/efo/EFO_1001463 gastroenteritis 'gastroenteritis' SubClassOf 'disease has feature' some 'dysentery' 'gastroenteritis' SubClassOf 'disease has inflammation site' some 'intestine' 'gastroenteritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'intestine') http://www.ebi.ac.uk/efo/EFO_1001475 schistosomiasis 'schistosomiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001472 Myelitis 'Myelitis' SubClassOf 'disease has inflammation site' some 'spinal cord' 'Myelitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'spinal cord') http://www.ebi.ac.uk/efo/EFO_1001486 primary biliary cirrhosis 'primary biliary cirrhosis' SubClassOf 'biliary tract neoplasm' http://www.ebi.ac.uk/efo/EFO_1001485 acromegaly 'acromegaly' SubClassOf 'hereditary neurological disease' http://www.ebi.ac.uk/efo/EFO_1001409 Pyomyositis 'Pyomyositis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009517 Donohue syndrome 'Donohue syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/UBERON_0003464 hindlimb bone 'hindlimb bone' SubClassOf 'part of' some 'anatomical system' 'hindlimb bone' SubClassOf 'part of' some 'skeletal system' http://www.ebi.ac.uk/efo/EFO_1001424 skin epithelioid hemangioma 'skin epithelioid hemangioma' EquivalentTo 'epithelioid hemangioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0010523 X-linked reticulate pigmentary disorder 'X-linked reticulate pigmentary disorder' SubClassOf 'syndromic disease' 'X-linked reticulate pigmentary disorder' SubClassOf 'bearer_of' some 'rare' 'X-linked reticulate pigmentary disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 'X-linked reticulate pigmentary disorder' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease 'Fabry disease' SubClassOf 'bearer_of' some 'rare' 'Fabry disease' SubClassOf 'disease has feature' some 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0009530 lipoid proteinosis 'lipoid proteinosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0003154 Increased circulating ACTH level 'Increased circulating ACTH level' SubClassOf 'Abnormal circulating hormone concentration' 'Increased circulating ACTH level' SubClassOf http://purl.obolibrary.org/obo/HP_0011043 http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009560 oculotrichoanal syndrome 'oculotrichoanal syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0003179 Protrusio acetabuli 'Protrusio acetabuli' SubClassOf 'Abnormality of the lower limb' 'Protrusio acetabuli' SubClassOf 'Abnormal skeletal morphology' 'Protrusio acetabuli' SubClassOf http://purl.obolibrary.org/obo/HP_0001384 http://purl.obolibrary.org/obo/MONDO_0009569 Hennekam-Beemer syndrome 'Hennekam-Beemer syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009561 alpha-mannosidosis 'alpha-mannosidosis' SubClassOf 'disease has feature' some 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0009578 neurocutaneous melanocytosis 'neurocutaneous melanocytosis' SubClassOf 'neurocutaneous syndrome' 'neurocutaneous melanocytosis' SubClassOf 'bearer_of' some 'rare' 'neurocutaneous melanocytosis' SubClassOf 'neurocutaneous syndrome' http://purl.obolibrary.org/obo/MONDO_0009577 megalocornea-intellectual disability syndrome 'megalocornea-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0003108 Hyperglycinuria 'Hyperglycinuria' SubClassOf 'Abnormality of urine homeostasis' 'Hyperglycinuria' SubClassOf http://purl.obolibrary.org/obo/HP_0003355 http://purl.obolibrary.org/obo/MONDO_0009582 Mietens syndrome 'Mietens syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010579 X-linked corneal dermoid 'X-linked corneal dermoid' SubClassOf 'syndromic disease' 'X-linked corneal dermoid' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010575 deafness-hypogonadism syndrome 'deafness-hypogonadism syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001395 Phlebitis 'Phlebitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'vein') 'Phlebitis' SubClassOf 'disease has inflammation site' some 'vein' http://www.orpha.net/ORDO/Orphanet_2788 Osteoporosis - pseudoglioma 'Osteoporosis - pseudoglioma' SubClassOf 'Vitreoretinopathy' 'Osteoporosis - pseudoglioma' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_2785 Osteopetrosis with renal tubular acidosis 'Osteopetrosis with renal tubular acidosis' SubClassOf 'inherited kidney disorder' http://www.ebi.ac.uk/efo/EFO_1001101 periventricular leukomalacia 'periventricular leukomalacia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001100 peritoneal neoplasm 'peritoneal neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum') 'peritoneal neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum' http://www.ebi.ac.uk/efo/EFO_1001115 POEMS syndrome 'POEMS syndrome' SubClassOf 'disease has feature' some 'plasma cell neoplasm' 'POEMS syndrome' SubClassOf 'paraneoplastic neurologic syndrome' 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700253 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700252 'POEMS syndrome' SubClassOf 'paraneoplastic neurologic syndrome' 'POEMS syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'plasma cell' http://www.ebi.ac.uk/efo/EFO_1001112 platelet storage pool deficiency 'platelet storage pool deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'platelet' http://www.ebi.ac.uk/efo/EFO_1001119 posterior uveitis 'posterior uveitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0019207 'posterior uveitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0019207) http://www.ebi.ac.uk/efo/EFO_1001129 proliferative vitreoretinopathy 'proliferative vitreoretinopathy' SubClassOf 'Vitreoretinopathy' 'proliferative vitreoretinopathy' SubClassOf 'Genetic vitreous-retinal disease' http://www.ebi.ac.uk/efo/EFO_1001139 pulpitis 'pulpitis' SubClassOf 'rheumatic disease' 'pulpitis' SubClassOf 'digestive system infectious disorder' 'pulpitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001754) 'pulpitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001754 http://www.ebi.ac.uk/efo/EFO_1001141 pyelonephritis 'pyelonephritis' SubClassOf 'uterine inflammatory disease' 'pyelonephritis' SubClassOf 'uterine inflammatory disease' http://www.ebi.ac.uk/efo/EFO_1001140 pyelitis 'pyelitis' SubClassOf 'disease has inflammation site' some 'renal pelvis' 'pyelitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'renal pelvis') http://www.ebi.ac.uk/efo/EFO_1001144 rat-bite fever 'rat-bite fever' SubClassOf 'bearer_of' some 'rare' 'rat-bite fever' EquivalentTo 'bacterial disease' and (http://purl.obolibrary.org/obo/RO_0002451 some 'Rattus') 'rat-bite fever' SubClassOf http://purl.obolibrary.org/obo/RO_0002451 some 'Rattus' http://www.ebi.ac.uk/efo/EFO_1001143 radial nerve lesion 'radial nerve lesion' EquivalentTo 'peripheral nerve lesion' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001492) http://purl.obolibrary.org/obo/MONDO_0009406 hypertrichotic osteochondrodysplasia Cantu type 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'disease has feature' some 'hypertrichosis' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'syndromic disease' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'syndromic disease' 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_0009417 hypergonadotropic hypogonadism-cataract syndrome 'hypergonadotropic hypogonadism-cataract syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010403 albinism-hearing loss syndrome 'albinism-hearing loss syndrome' SubClassOf 'albinism' 'albinism-hearing loss syndrome' SubClassOf 'albinism' http://www.orpha.net/ORDO/Orphanet_2238 Familial isolated hypoparathyroidism 'Familial isolated hypoparathyroidism' SubClassOf 'hereditary hypoparathyroidism' 'Familial isolated hypoparathyroidism' SubClassOf 'hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_2235 Hypogonadotropic hypogonadism - retinitis pigmentosa 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Retinal dystrophy' 'Hypogonadotropic hypogonadism - retinitis pigmentosa' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0009425 hypomandibular faciocranial dysostosis 'hypomandibular faciocranial dysostosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009459 channelopathy-associated congenital insensitivity to pain, autosomal recessive 'channelopathy-associated congenital insensitivity to pain, autosomal recessive' SubClassOf 'bearer_of' some 'congenital' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010441 CK syndrome 'CK syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0003489 Acute episodes of neuropathic symptoms 'Acute episodes of neuropathic symptoms' SubClassOf 'Abnormal nervous system physiology' 'Acute episodes of neuropathic symptoms' SubClassOf http://purl.obolibrary.org/obo/HP_0009830 http://purl.obolibrary.org/obo/MONDO_0009479 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0009473 isotretinoin-like syndrome 'isotretinoin-like syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001030 male genital tuberculosis 'male genital tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'male reproductive system') http://www.ebi.ac.uk/efo/EFO_1001039 Melkersson-Rosenthal syndrome 'Melkersson-Rosenthal syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_has_basis_in_accumulation_of some http://purl.obolibrary.org/obo/CHEBI_16874 http://www.ebi.ac.uk/efo/EFO_1001035 maxillary sinus neoplasm 'maxillary sinus neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001764 'maxillary sinus neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001764) http://www.ebi.ac.uk/efo/EFO_1001034 mastitis 'mastitis' SubClassOf 'disease has inflammation site' some 'breast' 'mastitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'breast') http://www.ebi.ac.uk/efo/EFO_1001047 mouth disease 'mouth disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mouth' 'mouth disease' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_1001044 mesothelial neoplasm 'mesothelial neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mesodermal cell' http://purl.obolibrary.org/obo/MONDO_0010498 MEND syndrome 'MEND syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001052 myeloid sarcoma 'myeloid sarcoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'myeloid cell' http://www.ebi.ac.uk/efo/EFO_1001050 multiple system atrophy 'multiple system atrophy' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001063 noma 'noma' SubClassOf 'bearer_of' some 'rare' 'noma' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_1001060 neovascular glaucoma 'neovascular glaucoma' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001074 optic papillitis 'optic papillitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'optic disc') 'optic papillitis' SubClassOf 'disease has inflammation site' some 'optic disc' http://www.ebi.ac.uk/efo/EFO_1001073 optic nerve neoplasm 'optic nerve neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000941) http://www.ebi.ac.uk/efo/EFO_1001071 oophoritis 'oophoritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'ovary') 'oophoritis' SubClassOf 'disease has inflammation site' some 'ovary' http://www.ebi.ac.uk/efo/EFO_1001070 ocular tuberculosis 'ocular tuberculosis' EquivalentTo 'tuberculosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eye') http://www.ebi.ac.uk/efo/EFO_1001078 orchitis 'orchitis' SubClassOf 'disease has inflammation site' some 'testis' 'orchitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'testis') http://www.ebi.ac.uk/efo/EFO_1001076 orbital cellulitis 'orbital cellulitis' SubClassOf 'eye infectious disorder' http://www.ebi.ac.uk/efo/EFO_1001084 parametritis 'parametritis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0010391) 'parametritis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0010391 http://www.ebi.ac.uk/efo/EFO_1001088 pars planitis 'pars planitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0034936 'pars planitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0034936) http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma 'parathyroid adenoma' EquivalentTo 'adenoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parathyroid gland') http://www.ebi.ac.uk/efo/EFO_1001094 penile neoplasm 'penile neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'penis') http://www.ebi.ac.uk/efo/EFO_1001092 patellofemoral pain syndrome 'patellofemoral pain syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0011166 http://www.ebi.ac.uk/efo/EFO_1001099 perinephritis 'perinephritis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0005406 'perinephritis' SubClassOf 'rheumatic disease' 'perinephritis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0005406) http://www.ebi.ac.uk/efo/EFO_1001204 sweat gland neoplasm 'sweat gland neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sweat gland') http://www.ebi.ac.uk/efo/EFO_1001209 temporal arteritis 'temporal arteritis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001632) 'temporal arteritis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001632 http://www.ebi.ac.uk/efo/EFO_1001214 tonsil cancer 'tonsil cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'tonsil') http://www.ebi.ac.uk/efo/EFO_1001210 tethered spinal cord syndrome 'tethered spinal cord syndrome' SubClassOf 'hereditary neurological disease' 'tethered spinal cord syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001219 trigeminal neuralgia 'trigeminal neuralgia' EquivalentTo 'neuralgia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'trigeminal nerve') http://www.ebi.ac.uk/efo/EFO_1001216 tooth disease 'tooth disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'calcareous tooth' 'tooth disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'calcareous tooth') 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 http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001494 'ulnar neuropathy' EquivalentTo 'mononeuropathy' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001494) http://www.ebi.ac.uk/efo/EFO_1001220 trochlear nerve disease 'trochlear nerve disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001644 'trochlear nerve disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001644) http://www.ebi.ac.uk/efo/EFO_1001227 ureterocele 'ureterocele' SubClassOf 'inherited kidney disorder' 'ureterocele' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_1001232 uveoparotid fever 'uveoparotid fever' SubClassOf 'lung disease' 'uveoparotid fever' SubClassOf 'pulmonary sarcoidosis' http://www.ebi.ac.uk/efo/EFO_1001231 uveitis 'uveitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001768 'uveitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001768) http://www.ebi.ac.uk/efo/EFO_1001230 uveal cancer 'uveal cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001768) http://www.ebi.ac.uk/efo/EFO_1001239 vulvitis 'vulvitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'mammalian vulva') 'vulvitis' SubClassOf 'disease has inflammation site' some 'mammalian vulva' http://www.ebi.ac.uk/efo/EFO_1001238 vitreous detachment 'vitreous detachment' SubClassOf 'Vitreoretinopathy' 'vitreous detachment' SubClassOf 'Genetic vitreous-retinal disease' http://www.ebi.ac.uk/efo/EFO_1001240 vulvovaginitis 'vulvovaginitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'vagina') and ('disease has inflammation site' some 'mammalian vulva') http://www.ebi.ac.uk/efo/EFO_1001249 non-alcoholic steatohepatitis 'non-alcoholic steatohepatitis' SubClassOf 'disease has inflammation site' some 'liver' http://www.ebi.ac.uk/efo/EFO_1001254 noise-induced hearing loss 'noise-induced hearing loss' SubClassOf 'hereditary neurological disease' http://www.ebi.ac.uk/efo/EFO_1001252 gastric cardia carcinoma 'gastric cardia carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001162) http://www.ebi.ac.uk/efo/EFO_1001269 Arbovirus Infections 'Arbovirus Infections' SubClassOf http://purl.obolibrary.org/obo/RO_0002451 some 'Amblyomma americanum' 'Arbovirus Infections' EquivalentTo 'viral disease' and (http://purl.obolibrary.org/obo/RO_0002451 some 'Amblyomma americanum') http://purl.obolibrary.org/obo/HP_0003458 EMG: myopathic abnormalities 'EMG: myopathic abnormalities' SubClassOf 'Abnormal skeletal muscle morphology' 'EMG: myopathic abnormalities' SubClassOf http://purl.obolibrary.org/obo/HP_0003198 http://purl.obolibrary.org/obo/MONDO_0000919 ampulla of vater cancer 'ampulla of vater cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hepatopancreatic ampulla') http://purl.obolibrary.org/obo/MONDO_0000916 intestinal infectious disease 'intestinal infectious disease' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0004786 'intestinal infectious disease' SubClassOf 'disease has inflammation site' some 'mucosa' 'intestinal infectious disease' EquivalentTo 'infectious disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001242) 'intestinal infectious disease' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001242 http://www.orpha.net/ORDO/Orphanet_2031 Hepatic fibrosis - renal cysts - intellectual disability 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'inherited kidney disorder' 'Hepatic fibrosis - renal cysts - intellectual disability' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0000921 ampulla of vater neoplasm 'ampulla of vater neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hepatopancreatic ampulla') 'ampulla of vater neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'hepatopancreatic ampulla' http://purl.obolibrary.org/obo/MONDO_0000920 duodenum cancer 'duodenum cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'duodenum') http://purl.obolibrary.org/obo/MONDO_0000931 endometrial disorder 'endometrial disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium' 'endometrial disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') http://purl.obolibrary.org/obo/MONDO_0000945 venous insufficiency 'venous insufficiency' EquivalentTo 'vascular insufficiency disorder' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vein') http://purl.obolibrary.org/obo/MONDO_0000944 cerebral artery occlusion 'cerebral artery occlusion' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004449 'cerebral artery occlusion' EquivalentTo 'vascular occlusion disorder' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004449) http://purl.obolibrary.org/obo/MONDO_0000952 cancer of long bone of lower limb 'cancer of long bone of lower limb' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003608) 'cancer of long bone of lower limb' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003608 http://purl.obolibrary.org/obo/HP_0003418 Back pain 'Back pain' SubClassOf 'Constitutional symptom' 'Back pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 http://purl.obolibrary.org/obo/MONDO_0000956 small intestine cancer 'small intestine cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://purl.obolibrary.org/obo/MONDO_0000959 malignant hypertensive renal disease 'malignant hypertensive renal disease' SubClassOf 'hypertensive nephropathy' 'malignant hypertensive renal disease' SubClassOf 'hypertensive nephropathy' http://purl.obolibrary.org/obo/MONDO_0009306 combined immunodeficiency with skin granulomas 'combined immunodeficiency with skin granulomas' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009315 congenital factor XII deficiency 'congenital factor XII deficiency' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0004841 http://purl.obolibrary.org/obo/MONDO_0009313 Grubben-de Cock-Borghgraef syndrome 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000992 heart conduction disease 'heart conduction disease' EquivalentTo 'heart disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0061337) 'heart conduction disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0061337 http://purl.obolibrary.org/obo/MONDO_0000995 familial periodic paralysis 'familial periodic paralysis' EquivalentTo 'periodic paralysis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0009326 congenital heart block 'congenital heart block' SubClassOf 'bearer_of' some 'congenital' 'congenital heart block' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009339 congenital bile acid synthesis defect 2 'congenital bile acid synthesis defect 2' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder 'congenital hematological disorder' SubClassOf 'bearer_of' some 'congenital' 'congenital hematological disorder' EquivalentTo 'hematologic disease' and ('bearer_of' some 'congenital') http://purl.obolibrary.org/obo/MONDO_0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009342 Hirschsprung disease-hearing loss-polydactyly syndrome 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'bearer_of' some 'rare' 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_0009352 classic homocystinuria 'classic homocystinuria' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009362 growth delay-hydrocephaly-lung hypoplasia syndrome 'growth delay-hydrocephaly-lung hypoplasia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009367 McKusick-Kaufman syndrome 'McKusick-Kaufman syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009363 hydrocephaly-tall stature-joint laxity syndrome 'hydrocephaly-tall stature-joint laxity syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0024988 sex cord-stromal benign neoplasm 'sex cord-stromal benign neoplasm' EquivalentTo 'benign neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0005295) http://purl.obolibrary.org/obo/MONDO_0009379 Rotor syndrome 'Rotor syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001158 retinopathy of prematurity 'retinopathy of prematurity' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001156 retinal vasculitis 'retinal vasculitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0004864 'retinal vasculitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0004864) http://purl.obolibrary.org/obo/MONDO_0010362 glycogen storage disease IXd 'glycogen storage disease IXd' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0004689 http://purl.obolibrary.org/obo/MONDO_0009383 transient familial neonatal hyperbilirubinemia 'transient familial neonatal hyperbilirubinemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009380 Dubin-Johnson syndrome 'Dubin-Johnson syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001163 root caries 'root caries' EquivalentTo 'dental caries' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001753) 'root caries' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001753 http://www.ebi.ac.uk/efo/EFO_1001162 rickettsiosis 'rickettsiosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001161 rheumatic heart disease 'rheumatic heart disease' SubClassOf 'disease has inflammation site' some 'heart' http://purl.obolibrary.org/obo/MONDO_0009388 hyperlysinemia 'hyperlysinemia' SubClassOf 'inborn disorder of amino acid metabolism' http://www.ebi.ac.uk/efo/EFO_1001167 scimitar syndrome 'scimitar syndrome' SubClassOf 'congenital pulmonary venous return anomaly' 'scimitar syndrome' SubClassOf 'congenital pulmonary venous return anomaly' http://www.ebi.ac.uk/efo/EFO_1001172 sebaceous gland neoplasm 'sebaceous gland neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001821) http://www.ebi.ac.uk/efo/EFO_1001171 sebaceous adenocarcinoma 'sebaceous adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001821) http://www.ebi.ac.uk/efo/EFO_1001179 sialadenitis 'sialadenitis' EquivalentTo 'lymphadenitis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://www.ebi.ac.uk/efo/EFO_1001176 sensorineural hearing loss 'sensorineural hearing loss' EquivalentTo 'hearing loss' and (http://purl.obolibrary.org/obo/RO_0004020 some 'internal ear') 'sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'internal ear' http://www.ebi.ac.uk/efo/EFO_1001175 secondary Parkinson disease 'secondary Parkinson disease' SubClassOf 'inherited neurodegenerative disorder' http://www.ebi.ac.uk/efo/EFO_1001183 skin appendage carcinoma 'skin appendage carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000021) http://www.ebi.ac.uk/efo/EFO_1001181 sigmoid neoplasm 'sigmoid neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sigmoid colon') 'sigmoid neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'sigmoid colon' http://www.ebi.ac.uk/efo/EFO_1001186 Sneddon syndrome 'Sneddon syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001190 splenic infarction 'splenic infarction' EquivalentTo 'vascular insufficiency disorder' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036301) 'splenic infarction' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036301 http://www.orpha.net/ORDO/Orphanet_357027 Familial retinoblastoma 'Familial retinoblastoma' SubClassOf 'hereditary neurological disease' http://www.orpha.net/ORDO/Orphanet_308023 Disease with punctate palmoplantar keratoderma as a major feature 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'hereditary palmoplantar keratoderma' 'Disease with punctate palmoplantar keratoderma as a major feature' SubClassOf 'palmoplantar keratosis' http://www.orpha.net/ORDO/Orphanet_100 Ataxia-telangiectasia 'Ataxia-telangiectasia' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_113 Bazex-Dupré-Christol syndrome 'Bazex-Dupré-Christol syndrome' SubClassOf 'hereditary neurological disease' http://www.orpha.net/ORDO/Orphanet_124 Blackfan-Diamond anemia 'Blackfan-Diamond anemia' SubClassOf 'inherited aplastic anemia' http://www.orpha.net/ORDO/Orphanet_145 Hereditary breast and ovarian cancer syndrome 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'ovarian disease' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'Genital neoplasm, female' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'ovarian epithelial tumor' 'Hereditary breast and ovarian cancer syndrome' SubClassOf 'ovarian cancer' http://purl.obolibrary.org/obo/HP_0003756 Skeletal myopathy 'Skeletal myopathy' SubClassOf 'Abnormal skeletal muscle morphology' 'Skeletal myopathy' SubClassOf http://purl.obolibrary.org/obo/HP_0003198 http://purl.obolibrary.org/obo/MONDO_0000812 vertebral column disorder 'vertebral column disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001130 'vertebral column disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001130) http://www.orpha.net/ORDO/Orphanet_167 Chédiak-Higashi syndrome 'Chédiak-Higashi syndrome' SubClassOf 'inborn errors of metabolism' 'Chédiak-Higashi syndrome' SubClassOf 'metabolic disease' 'Chédiak-Higashi syndrome' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0000824 congenital diarrhea 'congenital diarrhea' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0000827 salmonellosis 'salmonellosis' SubClassOf 'disease has feature' some 'dysentery' http://www.orpha.net/ORDO/Orphanet_170 Woolly hair 'Woolly hair' SubClassOf 'Isolated hair shaft abnormality' 'Woolly hair' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0003789 Minicore myopathy 'Minicore myopathy' SubClassOf 'Abnormal skeletal muscle morphology' 'Minicore myopathy' SubClassOf http://purl.obolibrary.org/obo/HP_0003198 http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease 'bone remodeling disease' EquivalentTo 'bone disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0046849) 'bone remodeling disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0046849 http://purl.obolibrary.org/obo/MONDO_0000837 bone resorption disease 'bone resorption disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0045453 'bone resorption disease' EquivalentTo 'bone remodeling disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0045453) http://purl.obolibrary.org/obo/MONDO_0000836 disease of bone structure 'disease of bone structure' SubClassOf 'disease has major feature' some 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/MONDO_0000845 fibrous dysplasia 'fibrous dysplasia' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0009209 autosomal recessive faciodigitogenital syndrome 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'bearer_of' some 'rare' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'faciodigitogenital syndrome' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'faciodigitogenital syndrome' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0000879 cutaneous candidiasis 'cutaneous candidiasis' EquivalentTo 'candidiasis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis 'Farber lipogranulomatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009216 glycogen storage disease due to GLUT2 deficiency 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009212 congenital factor X deficiency 'congenital factor X deficiency' SubClassOf 'factor X deficiency' 'congenital factor X deficiency' SubClassOf 'factor X deficiency' 'congenital factor X deficiency' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0008321 http://purl.obolibrary.org/obo/MONDO_0009211 congenital factor VII deficiency 'congenital factor VII deficiency' SubClassOf 'factor VII deficiency' 'congenital factor VII deficiency' SubClassOf 'factor VII deficiency' 'congenital factor VII deficiency' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0008169 http://purl.obolibrary.org/obo/MONDO_0009210 congenital factor V deficiency 'congenital factor V deficiency' EquivalentTo 'factor V deficiency' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010200 Wilson disease 'Wilson disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000892 colon medullary carcinoma 'colon medullary carcinoma' EquivalentTo 'colorectal medullary carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0000890 Zika virus congenital syndrome 'Zika virus congenital syndrome' SubClassOf 'bearer_of' some 'congenital' 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 'bearer_of' some 'rare' 'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0024876 tendon sheath disorder 'tendon sheath disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000304 'tendon sheath disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000304) http://purl.obolibrary.org/obo/MONDO_0010220 Young syndrome 'Young syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009249 hereditary fructose intolerance 'hereditary fructose intolerance' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome 'brittle cornea syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009270 genito-palato-cardiac syndrome 'genito-palato-cardiac syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0034204 syndromic congenital sodium diarrhea 'syndromic congenital sodium diarrhea' EquivalentTo 'congenital sodium diarrhea' and ('bearer_of' some 'has a syndromic presentation') 'syndromic congenital sodium diarrhea' SubClassOf 'congenital sodium diarrhea' 'syndromic congenital sodium diarrhea' SubClassOf 'congenital sodium diarrhea' http://purl.obolibrary.org/obo/MONDO_0009275 neonatal hemochromatosis 'neonatal hemochromatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010269 Coats disease 'Coats disease' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_2407 LOC syndrome 'LOC syndrome' SubClassOf 'inherited epidermolysis bullosa' 'LOC syndrome' SubClassOf 'epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0009294 glycogen storage disease VI 'glycogen storage disease VI' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010288 adrenomyodystrophy 'adrenomyodystrophy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009099 nephrogenic diabetes insipidus-intracranial calcification syndrome 'nephrogenic diabetes insipidus-intracranial calcification syndrome' SubClassOf 'syndromic disease' 'nephrogenic diabetes insipidus-intracranial calcification syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010080 familial infantile bilateral striatal necrosis 'familial infantile bilateral striatal necrosis' EquivalentTo 'infantile bilateral striatal necrosis' and ('bearer_of' some 'inherited') 'familial infantile bilateral striatal necrosis' SubClassOf 'syndromic disease' 'familial infantile bilateral striatal necrosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/UBERON_0003894 liver primordium 'liver primordium' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0001555 http://purl.obolibrary.org/obo/UBERON_0003849 mesencephalic neural crest 'mesencephalic neural crest' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002346 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 'sex chromosome disorder of sex development' http://www.ebi.ac.uk/efo/EFO_1001004 kidney papillary necrosis 'kidney papillary necrosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'renal papilla' http://purl.obolibrary.org/obo/UBERON_0003851 diencephalon neural crest 'diencephalon neural crest' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002346 http://purl.obolibrary.org/obo/UBERON_0003850 telencephalon neural crest 'telencephalon neural crest' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0002346 http://www.ebi.ac.uk/efo/EFO_1001015 leukoplakia of penis 'leukoplakia of penis' EquivalentTo 'leukoplakia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'penis') http://www.ebi.ac.uk/efo/EFO_1001019 lip cancer 'lip cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001833) http://purl.obolibrary.org/obo/UBERON_0003861 neural arch 'neural arch' SubClassOf 'part of' some 'skeletal system' 'neural arch' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/MONDO_0000709 Crohn ileitis 'Crohn ileitis' SubClassOf 'disease has inflammation site' some 'ileum' 'Crohn ileitis' EquivalentTo 'Crohn's disease' and ('disease has inflammation site' some 'ileum') http://purl.obolibrary.org/obo/MONDO_0000700 familial hemiplegic migraine 'familial hemiplegic migraine' EquivalentTo 'familial or sporadic hemiplegic migraine' and ('bearer_of' some 'inherited') 'familial hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' 'familial hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0000721 xanthinuria 'xanthinuria' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0046110 'xanthinuria' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0046110) http://purl.obolibrary.org/obo/MONDO_0000722 non-syndromic synpolydactyly 'non-syndromic synpolydactyly' EquivalentTo 'synpolydactyly' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic synpolydactyly' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0000726 idiopathic scoliosis 'idiopathic scoliosis' EquivalentTo 'scoliosis' and ('bearer_of' some 'idiopathic') 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_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_0000766 corneal endothelial dystrophy 'corneal endothelial dystrophy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'corneal epithelium' 'corneal endothelial dystrophy' EquivalentTo 'corneal dystrophy' and (http://purl.obolibrary.org/obo/RO_0004026 some 'corneal epithelium') http://purl.obolibrary.org/obo/MONDO_0009105 trichohepatoenteric syndrome 'trichohepatoenteric syndrome' SubClassOf 'bearer_of' some 'rare' 'trichohepatoenteric syndrome' SubClassOf 'syndromic disease' 'trichohepatoenteric syndrome' SubClassOf 'hereditary disorder of connective tissue' 'trichohepatoenteric syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0957408 http://purl.obolibrary.org/obo/MONDO_0009104 Donnai-Barrow syndrome 'Donnai-Barrow syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009115 congenital lactase deficiency 'congenital lactase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009114 congenital sucrase-isomaltase deficiency 'congenital sucrase-isomaltase deficiency' SubClassOf 'bearer_of' some 'congenital' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0024757 cardiovascular neoplasm 'cardiovascular neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cardiovascular system') http://purl.obolibrary.org/obo/MONDO_0009121 von Voss-Cherstvoy syndrome 'von Voss-Cherstvoy syndrome' SubClassOf 'bearer_of' some 'rare' 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_0010127 thymoma, familial 'thymoma, familial' EquivalentTo 'Thymoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura 'congenital thrombotic thrombocytopenic purpura' EquivalentTo 'thrombotic thrombocytopenic purpura' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0003932 cartilage element of chondrocranium 'cartilage element of chondrocranium' SubClassOf 'skeleton structure' 'cartilage element of chondrocranium' SubClassOf 'part of' some 'skeletal system' 'cartilage element of chondrocranium' SubClassOf 'part of' some 'anatomical system' 'cartilage element of chondrocranium' SubClassOf http://purl.obolibrary.org/obo/UBERON_0007844 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_0009156 ectrodactyly-polydactyly syndrome 'ectrodactyly-polydactyly syndrome' SubClassOf 'syndromic disease' 'ectrodactyly-polydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009168 Fowler syndrome 'Fowler syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009167 Bonnemann-Meinecke-Reich syndrome 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'syndromic disease' 'Bonnemann-Meinecke-Reich syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009173 congenital enteropathy due to enteropeptidase deficiency 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010154 trigonocephaly-bifid nose-acral anomalies syndrome 'trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis 'epidermodysplasia verruciformis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'syndromic disease' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010161 tyrosinemia type I 'tyrosinemia type I' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome 'Wolcott-Rallison syndrome' SubClassOf 'syndromic disease' 'Wolcott-Rallison syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010181 oculogastrointestinal muscular dystrophy 'oculogastrointestinal muscular dystrophy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010199 white forelock with malformations 'white forelock with malformations' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/CL_0000746 cardiac muscle cell 'cardiac muscle cell' SubClassOf http://purl.obolibrary.org/obo/CL_0002494 http://purl.obolibrary.org/obo/MONDO_0005411 gallbladder cancer 'gallbladder cancer' SubClassOf 'digestive system cancer' 'gallbladder cancer' SubClassOf 'biliary tract cancer' 'gallbladder cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') http://www.orpha.net/ORDO/Orphanet_254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'hereditary motor neuron disease' 'Autosomal recessive intermediate Charcot-Marie-Tooth disease type B' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0005499 brain glioma 'brain glioma' EquivalentTo 'malignant glioma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://www.orpha.net/ORDO/Orphanet_423 Malignant hyperthermia 'Malignant hyperthermia' SubClassOf 'Genetic muscular channelopathy' 'Malignant hyperthermia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_93592 Juvenile nephronophthisis 'Juvenile nephronophthisis' SubClassOf 'inherited kidney disorder' 'Juvenile nephronophthisis' SubClassOf 'kidney disease' http://www.orpha.net/ORDO/Orphanet_93591 Infantile nephronophthisis 'Infantile nephronophthisis' SubClassOf 'inherited kidney disorder' 'Infantile nephronophthisis' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0019927 growth hormone-producing pituitary gland neoplasm 'growth hormone-producing pituitary gland neoplasm' EquivalentTo 'neoplasm' and ('realized in' some 'growth hormone secretion') and (http://purl.obolibrary.org/obo/RO_0004026 some 'pituitary gland') 'growth hormone-producing pituitary gland neoplasm' SubClassOf 'realized in' some 'growth hormone secretion' http://purl.obolibrary.org/obo/MONDO_0019938 anorectal malformation 'anorectal malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0005301 multiple sclerosis 'multiple sclerosis' SubClassOf 'neuroinflammatory disorder' http://purl.obolibrary.org/obo/MONDO_0019946 ligneous conjunctivitis 'ligneous conjunctivitis' SubClassOf 'chronic conjunctivitis' 'ligneous conjunctivitis' SubClassOf 'bearer_of' some 'rare' 'ligneous conjunctivitis' SubClassOf 'chronic conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0044915 salivary duct carcinoma 'salivary duct carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001837 'salivary duct carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001837) 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_0019940 hypertrichosis-acromegaloid facial appearance syndrome 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'bearer_of' some 'rare' 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' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal pelvis') http://purl.obolibrary.org/obo/MONDO_0020950 viral eye infection 'viral eye infection' EquivalentTo 'viral disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eye') http://purl.obolibrary.org/obo/MONDO_0019956 encephalitis 'encephalitis' SubClassOf 'disease has inflammation site' some 'brain' http://purl.obolibrary.org/obo/MONDO_0019952 congenital myopathy 'congenital myopathy' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020947 parasitic eye infection 'parasitic eye infection' EquivalentTo 'parasitic infection' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eye') http://purl.obolibrary.org/obo/MONDO_0019964 thymic neuroendocrine tumor 'thymic neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://purl.obolibrary.org/obo/MONDO_0019962 thyroid lymphoma 'thyroid lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thyroid gland') http://purl.obolibrary.org/obo/MONDO_0044925 oral cavity carcinoma 'oral cavity carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000167) http://purl.obolibrary.org/obo/MONDO_0044926 oropharyngeal carcinoma 'oropharyngeal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'oropharynx') http://purl.obolibrary.org/obo/MONDO_0005363 inherited focal segmental glomerulosclerosis 'inherited focal segmental glomerulosclerosis' EquivalentTo 'focal segmental glomerulosclerosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0044937 rectal carcinoma 'rectal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'rectum') http://purl.obolibrary.org/obo/MONDO_0044983 benign lipomatous neoplasm 'benign lipomatous neoplasm' EquivalentTo 'benign connective and soft tissue neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'adipose tissue') http://purl.obolibrary.org/obo/MONDO_0005374 bone marrow neoplasm 'bone marrow neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bone marrow') http://purl.obolibrary.org/obo/MONDO_0044986 lymphoid system disorder 'lymphoid system disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'lymphoid system' http://purl.obolibrary.org/obo/MONDO_0044993 sympathetic nervous system disorder 'sympathetic nervous system disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'sympathetic nervous system' 'sympathetic nervous system disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sympathetic nervous system') http://purl.obolibrary.org/obo/MONDO_0044996 cerebral cortex disorder 'cerebral cortex disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'cerebral cortex') 'cerebral cortex disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'cerebral cortex' http://purl.obolibrary.org/obo/MONDO_0044995 parasympathetic nervous system disorder 'parasympathetic nervous system disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'parasympathetic nervous system') 'parasympathetic nervous system disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'parasympathetic nervous system' http://www.orpha.net/ORDO/Orphanet_272 Congenital muscular dystrophy, Fukuyama type 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'inborn errors of metabolism' 'Congenital muscular dystrophy, Fukuyama type' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0044992 mouth mucosa disorder 'mouth mucosa disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mouth mucosa' http://purl.obolibrary.org/obo/MONDO_0044991 upper digestive tract disorder 'upper digestive tract disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'upper digestive tract' 'upper digestive tract disorder' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0044964 oral cavity mucoepidermoid carcinoma 'oral cavity mucoepidermoid carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000167) http://purl.obolibrary.org/obo/MONDO_0044972 eosinophil disorder 'eosinophil disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'eosinophil' 'eosinophil disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eosinophil') http://purl.obolibrary.org/obo/MONDO_0044970 mitochondrial disease 'mitochondrial disease' SubClassOf 'in taxon' some 'Homo sapiens' 'mitochondrial disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'mitochondrion' http://www.ebi.ac.uk/efo/EFO_0005938 congenital left-sided heart lesions 'congenital left-sided heart lesions' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0030362 Aicardi-Goutieres syndrome 9 'Aicardi-Goutieres syndrome 9' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700263 http://www.ebi.ac.uk/efo/EFO_0005950 head and neck neoplasia 'head and neck neoplasia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007811 'head and neck neoplasia' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007811) http://www.orpha.net/ORDO/Orphanet_93610 Distal renal tubular acidosis with anemia 'Distal renal tubular acidosis with anemia' SubClassOf 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0019803 angioma serpiginosum 'angioma serpiginosum' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency 'acquired pituitary hormone deficiency' EquivalentTo 'hypopituitarism' and ('bearer_of' some 'acquired') 'acquired pituitary hormone deficiency' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0019846 acquired central diabetes insipidus 'acquired central diabetes insipidus' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0019855 athyreosis 'athyreosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019854 thyroid ectopia 'thyroid ectopia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019851 acquired primary ovarian failure 'acquired primary ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('bearer_of' some 'acquired') 'acquired primary ovarian failure' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure 'inherited primary ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019869 mosaic trisomy 22 'mosaic trisomy 22' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019866 mosaic trisomy 5 'mosaic trisomy 5' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019865 mosaic trisomy 4 'mosaic trisomy 4' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019868 mosaic trisomy 10 'mosaic trisomy 10' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019867 mosaic trisomy 8 'mosaic trisomy 8' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019861 thyroid hypoplasia 'thyroid hypoplasia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019860 thyroid hemiagenesis 'thyroid hemiagenesis' SubClassOf 'bearer_of' some 'congenital' 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_0044807 inherited dystonia 'inherited dystonia' EquivalentTo 'dystonic disorder' and ('bearer_of' some 'inherited') 'inherited dystonia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0005247 bacterial urinary tract infection 'bacterial urinary tract infection' EquivalentTo 'bacterial disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal system') http://purl.obolibrary.org/obo/MONDO_0044877 paraneoplastic cerebellar degeneration 'paraneoplastic cerebellar degeneration' SubClassOf 'paraneoplastic neurologic syndrome' 'paraneoplastic cerebellar degeneration' SubClassOf 'paraneoplastic neurologic syndrome' http://purl.obolibrary.org/obo/MONDO_0005299 brain ischemia 'brain ischemia' EquivalentTo 'ischemic disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://purl.obolibrary.org/obo/MONDO_0044887 central nervous system non-hodgkin lymphoma 'central nervous system non-hodgkin lymphoma' EquivalentTo 'non-Hodgkins lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') 'central nervous system non-hodgkin lymphoma' SubClassOf 'lymphatic system cancer' http://purl.obolibrary.org/obo/MONDO_0044889 high grade B-cell lymphoma 'high grade B-cell lymphoma' EquivalentTo 'diffuse large B-cell lymphoma' and ('bearer_of' some 'tumor grade 3 or 4, general grading system') 'high grade B-cell lymphoma' SubClassOf 'bearer_of' some 'tumor grade 3 or 4, general grading system' http://www.orpha.net/ORDO/Orphanet_654 Nephroblastoma 'Nephroblastoma' SubClassOf 'Malignant Urinary System Neoplasm' http://www.orpha.net/ORDO/Orphanet_665 Albright hereditary osteodystrophy 'Albright hereditary osteodystrophy' SubClassOf 'hereditary hypoparathyroidism' 'Albright hereditary osteodystrophy' SubClassOf 'hypoparathyroidism' http://www.orpha.net/ORDO/Orphanet_661 Ondine syndrome 'Ondine syndrome' SubClassOf 'hereditary neurological disease' http://www.orpha.net/ORDO/Orphanet_678 Papillon-Lefèvre syndrome 'Papillon-Lefèvre syndrome' SubClassOf 'inborn errors of metabolism' 'Papillon-Lefèvre syndrome' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_171723 White sponge nevus 'White sponge nevus' SubClassOf 'hereditary skin disorder' http://www.ebi.ac.uk/efo/EFO_0001061 cervical carcinoma 'cervical carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_0001064 Down syndrome 'Down syndrome' SubClassOf 'disease has feature' some 'epilepsy' http://www.ebi.ac.uk/efo/EFO_0001066 experimental autoimmune encephalomyelitis 'experimental autoimmune encephalomyelitis' SubClassOf 'encephalomyelitis' 'experimental autoimmune encephalomyelitis' SubClassOf 'CNS demyelinating autoimmune disease' 'experimental autoimmune encephalomyelitis' SubClassOf 'neuroinflammatory disorder' 'experimental autoimmune encephalomyelitis' SubClassOf 'encephalomyelitis' 'experimental autoimmune encephalomyelitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_1011336 http://www.ebi.ac.uk/efo/EFO_0001069 nutritional disorder 'nutritional disorder' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0001068 malaria 'malaria' SubClassOf 'disease has feature' some 'anemia' 'malaria' SubClassOf 'digestive system infectious disorder' http://www.ebi.ac.uk/efo/EFO_0001054 leprosy 'leprosy' SubClassOf 'bearer_of' some 'rare' 'leprosy' SubClassOf 'infectious disorder of the nervous system' http://www.ebi.ac.uk/efo/EFO_0001071 lung carcinoma 'lung carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.orpha.net/ORDO/Orphanet_352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'hereditary motor neuron disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type F' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Lissencephaly' 'Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_602 Distal myopathy, Nonaka type 'Distal myopathy, Nonaka type' SubClassOf 'inborn errors of metabolism' 'Distal myopathy, Nonaka type' SubClassOf 'metabolic disease' http://www.orpha.net/ORDO/Orphanet_352709 CLN13 disease 'CLN13 disease' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract 'congenital anomaly of kidney and urinary tract' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome 'overgrowth syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020718 congenital short bowel syndrome, autosomal recessive 'congenital short bowel syndrome, autosomal recessive' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020704 inherited rippling muscle disease 'inherited rippling muscle disease' EquivalentTo 'rippling muscle disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0044705 paranasal sinus squamous cell carcinoma 'paranasal sinus squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001825) http://purl.obolibrary.org/obo/MONDO_0044704 oropharynx squamous cell carcinoma 'oropharynx squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'oropharynx') http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease 'familial cystic renal disease' SubClassOf 'bearer_of' some 'rare' 'familial cystic renal disease' EquivalentTo 'Cystic Kidney Disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019740 acquired thrombotic thrombocytopenic purpura 'acquired thrombotic thrombocytopenic purpura' EquivalentTo 'thrombotic thrombocytopenic purpura' and ('bearer_of' some 'acquired') 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_0019751 autoinflammatory syndrome 'autoinflammatory syndrome' SubClassOf 'bearer_of' some 'rare' 'autoinflammatory syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0061702 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_0044743 major salivary gland cancer 'major salivary gland cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001829) 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 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0005148 type 2 diabetes mellitus 'type 2 diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0044381 'type 2 diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0030073 http://purl.obolibrary.org/obo/MONDO_0005147 type 1 diabetes mellitus 'type 1 diabetes mellitus' SubClassOf 'disease causes feature' some 'diabetic ketoacidosis' 'type 1 diabetes mellitus' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0006476 'type 1 diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'type B pancreatic cell' http://purl.obolibrary.org/obo/MONDO_0005149 pulmonary hypertension 'pulmonary hypertension' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pulmonary artery' http://purl.obolibrary.org/obo/MONDO_0020761 Bowen disease of the skin 'Bowen disease of the skin' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020760 skin squamous cell carcinoma in situ 'skin squamous cell carcinoma in situ' EquivalentTo 'squamous carcinoma in situ' and (http://purl.obolibrary.org/obo/RO_0004026 some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0044750 lassa virus infectious disease 'lassa virus infectious disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100332 some 'Lassa virus' 'lassa virus infectious disease' EquivalentTo 'infectious disease' and (http://purl.obolibrary.org/obo/MONDO_0100332 some 'Lassa virus') http://purl.obolibrary.org/obo/MONDO_0020768 X-linked deafness 'X-linked deafness' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0019787 autoimmune enteropathy 'autoimmune enteropathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0044724 3-methylglutaconic aciduria type 9 '3-methylglutaconic aciduria type 9' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0044782 esophageal ulcer 'esophageal ulcer' EquivalentTo 'ulcer disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'esophagus') http://purl.obolibrary.org/obo/MONDO_0005184 pancreatic ductal adenocarcinoma 'pancreatic ductal adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreatic duct') 'pancreatic ductal adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pancreatic duct' http://purl.obolibrary.org/obo/MONDO_0044792 large congenital melanocytic nevus 'large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' 'large congenital melanocytic nevus' SubClassOf 'bearer_of' some 'rare' 'large congenital melanocytic nevus' SubClassOf 'bearer_of' some 'congenital' 'large congenital melanocytic nevus' SubClassOf 'melanocytic nevus' http://www.orpha.net/ORDO/Orphanet_531 Miller-Dieker syndrome 'Miller-Dieker syndrome' SubClassOf 'Lissencephaly' 'Miller-Dieker syndrome' SubClassOf 'Cerebral malformation with epilepsy' http://www.orpha.net/ORDO/Orphanet_559 Marinesco-Sjögren syndrome 'Marinesco-Sjögren syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000941 http://purl.obolibrary.org/obo/CL_0000312 keratinocyte 'keratinocyte' SubClassOf http://purl.obolibrary.org/obo/CL_0000076 http://www.ebi.ac.uk/efo/EFO_1001952 endometrial adenosquamous carcinoma 'endometrial adenosquamous carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endometrium') http://www.ebi.ac.uk/efo/EFO_1001951 colorectal carcinoma 'colorectal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colorectum') http://www.ebi.ac.uk/efo/EFO_1001950 colon carcinoma 'colon carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://www.ebi.ac.uk/efo/EFO_1001959 hilar cholangiocarcinoma 'hilar cholangiocarcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'hilar portion of hepatic duct' 'hilar cholangiocarcinoma' EquivalentTo 'cholangiocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hilar portion of hepatic duct') http://www.ebi.ac.uk/efo/EFO_1001956 gallbladder carcinoma 'gallbladder carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'gallbladder') 'gallbladder carcinoma' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/CL_0000333 migratory neural crest cell 'migratory neural crest cell' SubClassOf 'multi fate stem cell' 'migratory neural crest cell' SubClassOf 'embryonic cell (metazoa)' 'migratory neural crest cell' SubClassOf http://purl.obolibrary.org/obo/CL_0011012 http://www.ebi.ac.uk/efo/EFO_1001963 ovarian mucinous cystadenocarcinoma 'ovarian mucinous cystadenocarcinoma' EquivalentTo 'mucinous cystadenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_1001962 ovarian cystadenocarcinoma 'ovarian cystadenocarcinoma' EquivalentTo 'cystadenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/CL_0000336 adrenal medulla chromaffin cell 'adrenal medulla chromaffin cell' SubClassOf 'neuroendocrine cell' 'adrenal medulla chromaffin cell' SubClassOf http://purl.obolibrary.org/obo/CL_0000166 http://www.ebi.ac.uk/efo/EFO_1001960 hypopharyngeal squamous cell carcinoma 'hypopharyngeal squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'hypopharynx') http://purl.obolibrary.org/obo/MONDO_0019627 isolated congenital alacrima 'isolated congenital alacrima' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_1001968 soft tissue sarcoma 'soft tissue sarcoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019624 acquired angioedema 'acquired angioedema' EquivalentTo 'angioedema' and ('bearer_of' some 'acquired') 'acquired angioedema' SubClassOf 'bearer_of' some 'acquired' http://www.ebi.ac.uk/efo/EFO_1001967 salivary gland squamous cell carcinoma 'salivary gland squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'saliva-secreting gland') http://purl.obolibrary.org/obo/MONDO_0019623 hereditary angioedema 'hereditary angioedema' EquivalentTo 'angioedema' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_1001965 pharyngeal squamous cell carcinoma 'pharyngeal squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'chordate pharynx') and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0006562) http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection 'familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019620 congenital esophageal diverticulum 'congenital esophageal diverticulum' SubClassOf 'bearer_of' some 'congenital' 'congenital esophageal diverticulum' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001974 uterine leiomyosarcoma 'uterine leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'body of uterus') http://www.ebi.ac.uk/efo/EFO_1001973 ureter urothelial carcinoma 'ureter urothelial carcinoma' SubClassOf 'Ureter Carcinoma' 'ureter urothelial carcinoma' SubClassOf 'urothelial carcinoma' 'ureter urothelial carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004030 http://purl.obolibrary.org/obo/MONDO_0019638 renal dysplasia 'renal dysplasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020634 grade III meningioma 'grade III meningioma' SubClassOf 'bearer_of' some 'tumor grade 3, general grading system' 'grade III meningioma' EquivalentTo 'meningioma' and ('bearer_of' some 'tumor grade 3, general grading system') http://purl.obolibrary.org/obo/MONDO_0019637 renal hypoplasia 'renal hypoplasia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001975 vulvar leiomyosarcoma 'vulvar leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0019630 congenital ectropion uveae 'congenital ectropion uveae' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_1001986 connective tissue disease 'connective tissue disease' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0019642 vitamin D-dependent rickets, type 2 'vitamin D-dependent rickets, type 2' SubClassOf 'vitamin D-dependent rickets' 'vitamin D-dependent rickets, type 2' SubClassOf 'vitamin D-dependent rickets' http://purl.obolibrary.org/obo/MONDO_0020653 vaginal adenocarcinoma 'vaginal adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vagina') http://www.ebi.ac.uk/efo/EFO_1001995 Sclerodermatomyositis 'Sclerodermatomyositis' SubClassOf 'inherited kidney disorder' 'Sclerodermatomyositis' SubClassOf 'hereditary peripheral neuropathy' 'Sclerodermatomyositis' SubClassOf 'hereditary skin disorder' 'Sclerodermatomyositis' SubClassOf 'hereditary skeletal muscle disorder' 'Sclerodermatomyositis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000774 http://www.ebi.ac.uk/efo/EFO_1001994 Scleroderma Polymyositis Overlap Syndrome 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf 'inherited kidney disorder' 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf 'hereditary peripheral neuropathy' 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf 'hereditary skeletal muscle disorder' 'Scleroderma Polymyositis Overlap Syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0000774 http://www.ebi.ac.uk/efo/EFO_1001993 scleroderma 'scleroderma' SubClassOf 'autoimmune disorder of musculoskeletal system' http://www.ebi.ac.uk/efo/EFO_1001991 pneumonitis 'pneumonitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0008946) 'pneumonitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0008946 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_0020654 renal pelvis/ureter urothelial carcinoma 'renal pelvis/ureter urothelial carcinoma' EquivalentTo 'urothelial carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'renal pelvis/ureter') 'renal pelvis/ureter urothelial carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'renal pelvis/ureter' http://purl.obolibrary.org/obo/MONDO_0020644 lung non-Hodgkin lymphoma 'lung non-Hodgkin lymphoma' EquivalentTo 'non-Hodgkins lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0020673 arterial occlusion 'arterial occlusion' EquivalentTo 'vascular occlusion disorder' and (http://purl.obolibrary.org/obo/RO_0004026 some 'artery') http://purl.obolibrary.org/obo/MONDO_0020669 paranasal sinus cancer 'paranasal sinus cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001825) http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm 'high grade malignant neoplasm' EquivalentTo 'cancer' and ('bearer_of' some 'tumor grade 3 or 4, general grading system') 'high grade malignant neoplasm' SubClassOf 'bearer_of' some 'tumor grade 3 or 4, general grading system' 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 'bearer_of' some 'rare' 'glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0004689 http://purl.obolibrary.org/obo/MONDO_0005053 ischemic disease 'ischemic disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0008015 http://purl.obolibrary.org/obo/MONDO_0020683 acute disease 'acute disease' SubClassOf 'in taxon' some 'Homo sapiens' http://www.orpha.net/ORDO/Orphanet_891 Familial exudative vitreoretinopathy 'Familial exudative vitreoretinopathy' SubClassOf 'Vitreoretinopathy' 'Familial exudative vitreoretinopathy' SubClassOf 'Genetic vitreous-retinal disease' http://www.ebi.ac.uk/efo/EFO_1001902 neuromuscular disease 'neuromuscular disease' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0050905) 'neuromuscular disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0050905 http://www.ebi.ac.uk/efo/EFO_1001901 neuroendocrine neoplasm 'neuroendocrine neoplasm' SubClassOf 'disease has feature' some 'dysentery' http://purl.obolibrary.org/obo/MONDO_0005090 schizophrenia 'schizophrenia' SubClassOf 'psychosis' 'schizophrenia' SubClassOf 'psychosis' http://www.ebi.ac.uk/efo/EFO_1001917 social anxiety disorder 'social anxiety disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0035176 http://www.ebi.ac.uk/efo/EFO_1001926 pathological gambling 'pathological gambling' SubClassOf 'hereditary neurological disease' http://www.ebi.ac.uk/efo/EFO_1001928 small intestine neuroendocrine tumor 'small intestine neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://www.ebi.ac.uk/efo/EFO_1001936 adult T acute lymphoblastic leukemia 'adult T acute lymphoblastic leukemia' SubClassOf 'acute T cell leukemia' 'adult T acute lymphoblastic leukemia' EquivalentTo 'adult acute lymphoblastic leukemia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'T cell') 'adult T acute lymphoblastic leukemia' SubClassOf 'T-cell leukemia' http://www.ebi.ac.uk/efo/EFO_1001931 oropharynx cancer 'oropharynx cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'oropharynx') http://www.ebi.ac.uk/efo/EFO_1001940 basaloid squamous cell carcinoma 'basaloid squamous cell carcinoma' SubClassOf 'digestive system disease' http://www.ebi.ac.uk/efo/EFO_1001949 colon adenocarcinoma 'colon adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://www.ebi.ac.uk/efo/EFO_1001947 childhood T acute lymphoblastic leukemia 'childhood T acute lymphoblastic leukemia' SubClassOf 'immune system cancer' http://www.ebi.ac.uk/efo/EFO_1001946 childhood B acute lymphoblastic leukemia 'childhood B acute lymphoblastic leukemia' SubClassOf 'immune system cancer' 'childhood B acute lymphoblastic leukemia' SubClassOf 'lymphatic system cancer' http://www.ebi.ac.uk/efo/EFO_1001942 bronchogenic carcinoma 'bronchogenic carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bronchus') http://www.orpha.net/ORDO/Orphanet_2926 Polyneuropathy - hand defect 'Polyneuropathy - hand defect' SubClassOf 'hereditary motor neuron disease' 'Polyneuropathy - hand defect' SubClassOf 'motor neuron disease' http://www.orpha.net/ORDO/Orphanet_240071 Classical progressive supranuclear palsy 'Classical progressive supranuclear palsy' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'hereditary motor neuron disease' 'Autosomal dominant intermediate Charcot-Marie-Tooth disease type E' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/CL_0000421 coelomocyte 'coelomocyte' SubClassOf http://purl.obolibrary.org/obo/CL_0000234 http://purl.obolibrary.org/obo/CL_0000451 dendritic cell 'dendritic cell' SubClassOf http://purl.obolibrary.org/obo/CL_0000234 http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020510 idiopathic syringomyelia 'idiopathic syringomyelia' SubClassOf 'bearer_of' some 'rare' 'idiopathic syringomyelia' EquivalentTo 'primary syringomyelia' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0019518 Waardenburg-Shah syndrome 'Waardenburg-Shah syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020516 thymic neuroendocrine carcinoma 'thymic neuroendocrine carcinoma' EquivalentTo 'neuroendocrine carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'thymus') http://purl.obolibrary.org/obo/MONDO_0019514 hepatic veno-occlusive disease 'hepatic veno-occlusive disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019516 exudative vitreoretinopathy 'exudative vitreoretinopathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020539 extragonadal non-dysgerminomatous germ cell tumor 'extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'nongerminomatous germ cell tumor' 'extragonadal non-dysgerminomatous germ cell tumor' SubClassOf 'nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0020523 familial parathyroid adenoma 'familial parathyroid adenoma' EquivalentTo 'parathyroid adenoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019542 acute liver failure 'acute liver failure' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019565 hereditary von Willebrand disease 'hereditary von Willebrand disease' EquivalentTo 'von Willebrand disease (hereditary or acquired)' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020574 central nervous system nongerminomatous germ cell tumor 'central nervous system nongerminomatous germ cell tumor' EquivalentTo 'nongerminomatous germ cell tumor' and (http://purl.obolibrary.org/obo/RO_0004026 some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility 'inherited disease susceptibility' EquivalentTo 'disease susceptibility' and ('bearer_of' some 'inherited') 'inherited disease susceptibility' SubClassOf 'bearer_of' some 'inherited' http://purl.obolibrary.org/obo/MONDO_0019572 autosomal recessive cutis laxa type 1 'autosomal recessive cutis laxa type 1' SubClassOf 'bearer_of' some 'rare' 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 'X-linked deafness' http://purl.obolibrary.org/obo/MONDO_0020596 mucin-producing carcinoma 'mucin-producing carcinoma' SubClassOf 'mucinous neoplasm' 'mucin-producing carcinoma' SubClassOf 'mucinous neoplasm' http://purl.obolibrary.org/obo/MONDO_0020594 abducens nerve disorder 'abducens nerve disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001646 'abducens nerve disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001646) http://purl.obolibrary.org/obo/MONDO_0020592 disorder of pharynx 'disorder of pharynx' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'chordate pharynx' 'disorder of pharynx' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'chordate pharynx') http://purl.obolibrary.org/obo/MONDO_0020599 acquired coagulation factor deficiency 'acquired coagulation factor deficiency' SubClassOf 'bearer_of' some 'acquired' 'acquired coagulation factor deficiency' EquivalentTo 'coagulation protein disease' and ('bearer_of' some 'acquired') http://www.orpha.net/ORDO/Orphanet_758 Pseudoxanthoma elasticum 'Pseudoxanthoma elasticum' SubClassOf 'familial cardiomyopathy' 'Pseudoxanthoma elasticum' SubClassOf 'cardiomyopathy' http://www.orpha.net/ORDO/Orphanet_773 Refsum disease 'Refsum disease' SubClassOf 'inborn errors of metabolism' 'Refsum disease' SubClassOf 'eye degenerative disorder' 'Refsum disease' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0020586 factor V deficiency 'factor V deficiency' SubClassOf 'disease arises from feature' some 'Reduced coagulation factor V activity' http://purl.obolibrary.org/obo/MONDO_0020588 lung PEComa 'lung PEComa' EquivalentTo 'PEComa' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.orpha.net/ORDO/Orphanet_171848 Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Retinal dystrophy' 'Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_2995 Baraitser-Winter syndrome 'Baraitser-Winter syndrome' SubClassOf 'Rare genetic developmental defect during embryogenesis' http://www.orpha.net/ORDO/Orphanet_701 Alopecia universalis 'Alopecia universalis' SubClassOf 'hereditary skin disorder' 'Alopecia universalis' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_726 Alpers syndrome 'Alpers syndrome' SubClassOf 'eye degenerative disorder' http://www.ebi.ac.uk/efo/EFO_1001795 fusariosis 'fusariosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/CL_0000576 monocyte 'monocyte' SubClassOf http://purl.obolibrary.org/obo/CL_0000234 http://www.ebi.ac.uk/efo/EFO_1001759 alcohol amnestic disorder 'alcohol amnestic disorder' SubClassOf 'amnestic disorder' 'alcohol amnestic disorder' SubClassOf 'amnestic disorder' http://www.ebi.ac.uk/efo/EFO_1001769 carcinoid heart disease 'carcinoid heart disease' SubClassOf 'cardiovascular neoplasm' http://www.ebi.ac.uk/efo/EFO_1001767 brain stem neoplasm 'brain stem neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'brainstem' 'brain stem neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brainstem') http://www.ebi.ac.uk/efo/EFO_1001774 central nervous system venous angioma 'central nervous system venous angioma' SubClassOf 'vascular disease' 'central nervous system venous angioma' SubClassOf 'neurovascular disorder' http://www.ebi.ac.uk/efo/EFO_1001772 Central Cord Syndrome 'Central Cord Syndrome' SubClassOf 'nervous system disease' 'Central Cord Syndrome' SubClassOf 'injury' 'Central Cord Syndrome' SubClassOf 'nervous system injury' http://purl.obolibrary.org/obo/MONDO_0020435 atrial septal defect, coronary sinus type 'atrial septal defect, coronary sinus type' SubClassOf 'syndromic disease' 'atrial septal defect, coronary sinus type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020428 congenital Gerbode defect 'congenital Gerbode defect' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020427 Laubry-Pezzi syndrome 'Laubry-Pezzi syndrome' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0019443 dextro-looped transposition of the great arteries 'dextro-looped transposition of the great arteries' SubClassOf 'cardiogenetic 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_0019453 myelodysplastic syndrome with multilineage dysplasia 'myelodysplastic syndrome with multilineage dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004111 http://purl.obolibrary.org/obo/MONDO_0019470 aggressive NK-cell leukemia 'aggressive NK-cell leukemia' SubClassOf 'leukocyte disorder' 'aggressive NK-cell leukemia' EquivalentTo 'leukemia' and (http://purl.obolibrary.org/obo/RO_0004026 some 'natural killer cell') 'aggressive NK-cell leukemia' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'natural killer cell' http://purl.obolibrary.org/obo/MONDO_0020477 progeria-associated arthropathy 'progeria-associated arthropathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020463 isolated congenital ectropion 'isolated congenital ectropion' EquivalentTo 'congenital ectropion' and ('bearer_of' some 'has an isolated presentation') 'isolated congenital ectropion' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0020460 acquired von willebrand syndrome 'acquired von willebrand syndrome' EquivalentTo 'von Willebrand disease (hereditary or acquired)' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020467 mosaic monosomy X 'mosaic monosomy X' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0020491 subcortical band heterotopia 'subcortical band heterotopia' SubClassOf 'syndromic disease' 'subcortical band heterotopia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020490 mosaic trisomy 9 'mosaic trisomy 9' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0020496 familial porencephaly 'familial porencephaly' EquivalentTo 'porencephaly' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020493 Haddad syndrome 'Haddad syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019497 nonsyndromic genetic hearing loss 'nonsyndromic genetic hearing loss' SubClassOf 'bearer_of' some 'has an isolated presentation' 'nonsyndromic genetic hearing loss' SubClassOf 'bearer_of' some 'rare' 'nonsyndromic genetic hearing loss' EquivalentTo 'hearing loss' and ('bearer_of' some 'has an isolated presentation') and ('bearer_of' some 'inherited') 'nonsyndromic genetic hearing loss' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0008482 http://purl.obolibrary.org/obo/MONDO_0020483 acetazolamide-responsive myotonia 'acetazolamide-responsive myotonia' SubClassOf http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide' 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and (http://purl.obolibrary.org/obo/mondo#disease_responds_to some 'acetazolamide') http://www.orpha.net/ORDO/Orphanet_68366 Lysosomal disease 'Lysosomal disease' SubClassOf 'inborn errors of metabolism' 'Lysosomal disease' SubClassOf 'metabolic disease' 'Lysosomal disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009900 polysyndactyly-cardiac malformation syndrome 'polysyndactyly-cardiac malformation syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010906 orofacial cleft 11 'orofacial cleft 11' SubClassOf 'bearer_of' some 'has an isolated presentation' 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010908 loose anagen syndrome 'loose anagen syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0042640 http://purl.obolibrary.org/obo/MONDO_0009928 pulmonary alveolar microlithiasis 'pulmonary alveolar microlithiasis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009924 vitamin D-dependent rickets, type 1 'vitamin D-dependent rickets, type 1' SubClassOf 'vitamin D-dependent 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009936 familial primary pulmonary hypoplasia 'familial primary pulmonary hypoplasia' SubClassOf 'bearer_of' some 'rare' 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 'congenital pulmonary veins anomaly' http://purl.obolibrary.org/obo/MONDO_0009933 congenital pulmonary lymphangiectasia 'congenital pulmonary lymphangiectasia' SubClassOf 'bearer_of' some 'rare' 'congenital pulmonary lymphangiectasia' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_1001838 renal nutcracker syndrome 'renal nutcracker syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001836 pyogenic liver abscess 'pyogenic liver abscess' SubClassOf 'liver disease' 'pyogenic liver abscess' SubClassOf 'abscess' 'pyogenic liver abscess' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700051 http://www.ebi.ac.uk/efo/EFO_1001835 pyelocystitis 'pyelocystitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'renal pelvis') and ('disease has inflammation site' some 'urinary bladder') http://www.ebi.ac.uk/efo/EFO_1001834 pulmonary aspergillosis 'pulmonary aspergillosis' EquivalentTo 'aspergillosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://purl.obolibrary.org/obo/MONDO_0010939 low phospholipid associated cholelithiasis 'low phospholipid associated cholelithiasis' SubClassOf 'disease has inflammation site' some 'gallbladder' http://purl.obolibrary.org/obo/MONDO_0010930 anophthalmia plus syndrome 'anophthalmia plus syndrome' SubClassOf 'bearer_of' some 'rare' 'anophthalmia plus syndrome' SubClassOf 'syndromic disease' 'anophthalmia plus syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009959 peroxisome biogenesis disorder type 3B 'peroxisome biogenesis disorder type 3B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0009958 adult Refsum disease 'adult Refsum disease' SubClassOf 'disease has major feature' some 'Leukoencephalopathy' http://www.ebi.ac.uk/efo/EFO_1001853 submandibular gland neoplasm 'submandibular gland neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'submandibular gland') http://www.ebi.ac.uk/efo/EFO_1001857 Takayasu arteritis 'Takayasu arteritis' SubClassOf 'inherited kidney disorder' 'Takayasu arteritis' SubClassOf 'hereditary otorhinolaryngologic disease' 'Takayasu arteritis' SubClassOf 'hereditary neurological disease' 'Takayasu arteritis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pharyngeal arch artery' 'Takayasu arteritis' SubClassOf 'kidney disease' 'Takayasu arteritis' SubClassOf 'neurovascular disorder' http://www.ebi.ac.uk/efo/EFO_1001856 Susac Syndrome 'Susac Syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010952 hereditary hyperferritinemia with congenital cataracts 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'bearer_of' some 'congenital' 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'bearer_of' some 'rare' 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 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0001421 liver disease 'liver disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'liver') 'liver disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'liver' http://www.ebi.ac.uk/efo/EFO_0001423 encephalomyelitis 'encephalomyelitis' SubClassOf 'disease has inflammation site' some 'central nervous system' 'encephalomyelitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'central nervous system') http://www.ebi.ac.uk/efo/EFO_0001422 cirrhosis of liver 'cirrhosis of liver' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis of genetic origin 'renal tubular dysgenesis of genetic origin' EquivalentTo 'renal tubular dysgenesis' and ('bearer_of' some 'inherited') 'renal tubular dysgenesis of genetic origin' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010961 obesity due to prohormone convertase I deficiency 'obesity due to prohormone convertase I deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010979 Timothy syndrome 'Timothy syndrome' SubClassOf 'disease has feature' some 'ventricular fibrillation' 'Timothy syndrome' SubClassOf 'disease has feature' some 'heart conduction disease' http://www.ebi.ac.uk/efo/EFO_0001416 cervical adenocarcinoma 'cervical adenocarcinoma' SubClassOf 'bearer_of' some 'rare' 'cervical adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'uterine cervix') http://www.ebi.ac.uk/efo/EFO_1001888 eye infection 'eye infection' SubClassOf 'infectious disease' 'eye infection' SubClassOf 'eye disease' 'eye infection' SubClassOf 'eye infectious disorder' http://purl.obolibrary.org/obo/MONDO_0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome 'hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001887 epicondylitis 'epicondylitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0006807) 'epicondylitis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0006807 http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome 'premature aging syndrome' SubClassOf 'bearer_of' some 'rare' 'premature aging syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some 'obsolete aging' 'premature aging syndrome' SubClassOf 'in taxon' some 'Homo sapiens' http://purl.obolibrary.org/obo/MONDO_0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'disease has feature' some 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0019313 lymphatic malformation 'lymphatic malformation' EquivalentTo 'lymphedema' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019321 atypical Werner syndrome 'atypical Werner syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0034976 iatrogenic Creutzfeldt-Jakob disease 'iatrogenic Creutzfeldt-Jakob disease' EquivalentTo 'acquired Creutzfeldt-Jakob disease' and ('bearer_of' some 'iatrogenic') http://purl.obolibrary.org/obo/MONDO_0044303 congenital heart defects and ectodermal dysplasia 'congenital heart defects and ectodermal dysplasia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0044304 hyperphenylalaninemia due to DNAJC12 deficiency 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'amino acid metabolism disease' 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'inborn errors of metabolism' 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'inborn disorder of amino acid metabolism' 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 'syndromic intellectual disability' 'intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies' SubClassOf 'syndromic intellectual disability' 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 'bearer_of' some 'rare' '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 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019346 sialidosis type 1 'sialidosis type 1' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension 'pulmonary arterial hypertension' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020359 congenital symblepharon 'congenital symblepharon' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation 'urogenital tract malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019351 isolated spina bifida 'isolated spina bifida' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated spina bifida' EquivalentTo 'spina bifida' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0019354 Stickler syndrome 'Stickler syndrome' SubClassOf 'disease has feature' some 'collagenopathy' http://purl.obolibrary.org/obo/MONDO_0020344 postsynaptic congenital myasthenic syndrome 'postsynaptic congenital myasthenic syndrome' EquivalentTo 'congenital myasthenic syndrome' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0098794) 'postsynaptic congenital myasthenic syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0098975 http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis 'familial amyotrophic lateral sclerosis' EquivalentTo 'amyotrophic lateral sclerosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0044347 erythrocyte disorder 'erythrocyte disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'erythrocyte') 'erythrocyte disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'erythrocyte' http://purl.obolibrary.org/obo/MONDO_0044349 acquired hemoglobinopathy 'acquired hemoglobinopathy' EquivalentTo 'hemoglobinopathy' and ('bearer_of' some 'acquired') 'acquired hemoglobinopathy' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0044348 hemoglobinopathy 'hemoglobinopathy' SubClassOf 'disease has feature' some 'anemia' 'hemoglobinopathy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/CHEBI_35143) 'hemoglobinopathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/CHEBI_35143 http://purl.obolibrary.org/obo/MONDO_0020366 congenital glaucoma 'congenital glaucoma' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0001379 endocrine system disease 'endocrine system disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine system' 'endocrine system disease' SubClassOf 'in taxon' some 'Homo sapiens' http://www.ebi.ac.uk/efo/EFO_0001378 multiple myeloma 'multiple myeloma' EquivalentTo 'myeloid neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'plasma cell') 'multiple myeloma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'plasma cell' http://purl.obolibrary.org/obo/MONDO_0019388 pelvis syndrome 'pelvis syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001809 Marchiafava-Bignami Disease 'Marchiafava-Bignami Disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome 'macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001808 manganese poisoning 'manganese poisoning' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001807 malacoplakia 'malacoplakia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020398 congenital mitral stenosis 'congenital mitral stenosis' EquivalentTo 'mitral valve stenosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0044324 Al Kaissi syndrome 'Al Kaissi syndrome' SubClassOf 'syndromic intellectual disability' 'Al Kaissi syndrome' SubClassOf 'bearer_of' some 'rare' 'Al Kaissi syndrome' SubClassOf 'syndromic intellectual disability' http://www.orpha.net/ORDO/Orphanet_181402 Syndrome with hypoparathyroidism 'Syndrome with hypoparathyroidism' SubClassOf 'hereditary hypoparathyroidism' 'Syndrome with hypoparathyroidism' SubClassOf 'hypoparathyroidism' 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 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001810 mercury poisoning 'mercury poisoning' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001819 orbital myositis 'orbital myositis' SubClassOf 'myositis' 'orbital myositis' SubClassOf 'eye disease' 'orbital myositis' EquivalentTo 'myositis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'extra-ocular muscle') 'orbital myositis' SubClassOf 'myositis' 'orbital myositis' SubClassOf 'myopathy of extraocular muscle' http://purl.obolibrary.org/obo/MONDO_0020380 autosomal dominant cerebellar ataxia 'autosomal dominant cerebellar ataxia' SubClassOf 'inherited neurodegenerative disorder' 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 'bearer_of' some 'congenital' 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://www.ebi.ac.uk/efo/EFO_1001825 pleurisy 'pleurisy' SubClassOf 'disease has inflammation site' some 'pleura' 'pleurisy' EquivalentTo 'disease' and ('disease has inflammation site' some 'pleura') http://www.ebi.ac.uk/efo/EFO_1001821 osteoradionecrosis 'osteoradionecrosis' SubClassOf 'bone disease' 'osteoradionecrosis' SubClassOf 'osteonecrosis' http://purl.obolibrary.org/obo/MONDO_0015653 monogenic epilepsy 'monogenic epilepsy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome 'epilepsy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001039 tonsillitis 'tonsillitis' SubClassOf 'disease has inflammation site' some 'tonsil' 'tonsillitis' SubClassOf 'digestive system disease' 'tonsillitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'tonsil') http://purl.obolibrary.org/obo/MONDO_0001040 nasopharyngitis 'nasopharyngitis' SubClassOf 'digestive system disease' 'nasopharyngitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'nasopharynx') 'nasopharyngitis' SubClassOf 'disease has inflammation site' some 'nasopharynx' 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 'disease has major feature' some 'Eosinophilia' http://purl.obolibrary.org/obo/MONDO_0015681 childhood disintegrative disorder 'childhood disintegrative disorder' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001056 gastric cancer 'gastric cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://purl.obolibrary.org/obo/MONDO_0001059 gastric lymphoma 'gastric lymphoma' SubClassOf 'hereditary gastric cancer' 'gastric lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'stomach') http://purl.obolibrary.org/obo/MONDO_0001063 cardia cancer 'cardia cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001162 'cardia cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001162) http://purl.obolibrary.org/obo/MONDO_0040678 infiltrating urothelial carcinoma 'infiltrating urothelial carcinoma' EquivalentTo 'invasive carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urothelium') http://www.orpha.net/ORDO/Orphanet_30924 Primary hypomagnesemia with secondary hypocalcemia 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'inborn errors of metabolism' 'Primary hypomagnesemia with secondary hypocalcemia' SubClassOf 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0001083 Fanconi renotubular syndrome 'Fanconi renotubular syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'proximal convoluted tubule' http://purl.obolibrary.org/obo/MONDO_0001082 lymph node cancer 'lymph node cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lymph node') http://purl.obolibrary.org/obo/UBERON_0007329 pancreatic duct 'pancreatic duct' SubClassOf http://purl.obolibrary.org/obo/UBERON_0000058 'pancreatic duct' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0000017 http://www.orpha.net/ORDO/Orphanet_137608 Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'hereditary skin disorder' http://www.ebi.ac.uk/efo/EFO_0006510 Herpes Zoster 'Herpes Zoster' SubClassOf 'disease causes feature' some 'post-infectious neuralgia' http://www.ebi.ac.uk/efo/EFO_0006513 hereditary hemochromatosis type 1 'hereditary hemochromatosis type 1' SubClassOf 'bearer_of' some 'not rare' http://purl.obolibrary.org/obo/MONDO_0015706 mosaic trisomy 1 'mosaic trisomy 1' SubClassOf 'bearer_of' some 'mosaic' 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 http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0045061 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 http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005579 'immunodeficiency due to a late component of complement deficiency' EquivalentTo 'complement deficiency' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005579) http://purl.obolibrary.org/obo/MONDO_0015718 mosaic trisomy 12 'mosaic trisomy 12' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015713 idiopathic central precocious puberty 'idiopathic central precocious puberty' EquivalentTo 'Central precocious puberty' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0015729 mosaic trisomy 16 'mosaic trisomy 16' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015727 mosaic trisomy 15 'mosaic trisomy 15' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015725 mosaic trisomy 14 'mosaic trisomy 14' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015730 mosaic trisomy 17 'mosaic trisomy 17' SubClassOf 'bearer_of' some 'mosaic' http://www.ebi.ac.uk/efo/EFO_0006545 brain glioblastoma 'brain glioblastoma' EquivalentTo 'glioblastoma multiforme' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') 'brain glioblastoma' SubClassOf 'brain astrocytoma' http://www.ebi.ac.uk/efo/EFO_0006544 bladder transitional cell carcinoma 'bladder transitional cell carcinoma' EquivalentTo 'Transitional Cell Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') http://purl.obolibrary.org/obo/MONDO_0015748 hereditary mucosal leukokeratosis 'hereditary mucosal leukokeratosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015746 male infertility due to globozoospermia 'male infertility due to globozoospermia' EquivalentTo 'male infertility' and ('disease arises from feature' some 'Globozoospermia') 'male infertility due to globozoospermia' SubClassOf 'disease arises from feature' some 'Globozoospermia' http://purl.obolibrary.org/obo/MONDO_0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001115 familial polycythemia 'familial polycythemia' EquivalentTo 'polycythemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015752 intellectual disability-cataracts-kyphosis syndrome 'intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015756 myeloid hemopathy 'myeloid hemopathy' SubClassOf 'hematologic disease' 'myeloid hemopathy' SubClassOf 'cancer or benign tumor' 'myeloid hemopathy' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/MONDO_0001128 nasal cavity cancer 'nasal cavity cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'nasal cavity') http://www.ebi.ac.uk/efo/EFO_0006566 dysplastic oral keratinocyte 'dysplastic oral keratinocyte' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0015764 mosaic trisomy 20 'mosaic trisomy 20' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015763 mosaic trisomy 2 'mosaic trisomy 2' SubClassOf 'bearer_of' some 'mosaic' http://www.ebi.ac.uk/efo/EFO_0006471 pancreatic tubular adenocarcinoma 'pancreatic tubular adenocarcinoma' EquivalentTo 'tubular adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas') http://www.ebi.ac.uk/efo/EFO_0006462 ovarian mucinous adenocarcinoma 'ovarian mucinous adenocarcinoma' EquivalentTo 'mucinous carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_0006460 ovarian adenocarcinoma 'ovarian adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://purl.obolibrary.org/obo/MONDO_0015542 secondary hemophagocytic lymphohistiocytosis 'secondary hemophagocytic lymphohistiocytosis' SubClassOf 'bearer_of' some 'acquired' 'secondary hemophagocytic lymphohistiocytosis' EquivalentTo 'hemophagocytic syndrome' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0015547 hereditary dementia 'hereditary dementia' SubClassOf 'hereditary neurological disease' 'hereditary dementia' EquivalentTo 'dementia' and ('bearer_of' some 'inherited') 'hereditary dementia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015541 hereditary hemophagocytic lymphohistiocytosis 'hereditary hemophagocytic lymphohistiocytosis' EquivalentTo 'hemophagocytic syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome 'hemophagocytic syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015550 suprabasal epidermolysis bullosa simplex 'suprabasal epidermolysis bullosa simplex' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0010402 'suprabasal epidermolysis bullosa simplex' EquivalentTo 'epidermolysis bullosa simplex' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0010402) http://purl.obolibrary.org/obo/MONDO_0015574 chronic cutaneous lupus erythematosus 'chronic cutaneous lupus erythematosus' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/CL_0000077 mesothelial cell 'mesothelial cell' SubClassOf 'epithelial cell' 'mesothelial cell' SubClassOf http://purl.obolibrary.org/obo/CL_0000076 http://purl.obolibrary.org/obo/CL_0000071 blood vessel endothelial cell 'blood vessel endothelial cell' SubClassOf http://purl.obolibrary.org/obo/CL_0000076 http://purl.obolibrary.org/obo/CL_0000096 mature neutrophil 'mature neutrophil' SubClassOf http://purl.obolibrary.org/obo/CL_0000234 http://purl.obolibrary.org/obo/CL_0000092 osteoclast 'osteoclast' SubClassOf http://purl.obolibrary.org/obo/CL_0000234 http://purl.obolibrary.org/obo/MONDO_0015609 advanced sleep phase syndrome 'advanced sleep phase syndrome' SubClassOf 'bearer_of' some 'rare' 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_0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly 'multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005594 'multiple epiphyseal dysplasia due to collagen 9 anomaly' EquivalentTo 'multiple epiphyseal dysplasia' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005594) http://purl.obolibrary.org/obo/MONDO_0015635 porokeratotic eccrine ostial and dermal duct nevus 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015634 isolated osteopoikilosis 'isolated osteopoikilosis' EquivalentTo 'osteopoikilosis' and ('bearer_of' some 'has an isolated presentation') 'isolated osteopoikilosis' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015448 mitochondrial complex III deficiency 'mitochondrial complex III deficiency' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005750) 'mitochondrial complex III deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/GO_0005750 http://purl.obolibrary.org/obo/MONDO_0015454 multiple carboxylase deficiency 'multiple carboxylase deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015474 cryptosporidiosis 'cryptosporidiosis' SubClassOf 'bearer_of' some 'rare' 'cryptosporidiosis' SubClassOf 'disease has feature' some 'dysentery' http://purl.obolibrary.org/obo/MONDO_0015486 keratoconus 'keratoconus' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015494 isolated dystonia 'isolated dystonia' EquivalentTo 'dystonic disorder' and ('bearer_of' some 'has an isolated presentation') 'isolated dystonia' SubClassOf 'bearer_of' some 'has an isolated presentation' http://www.ebi.ac.uk/efo/EFO_0006719 mesonephric adenocarcinoma 'mesonephric adenocarcinoma' SubClassOf 'ovarian disease' 'mesonephric adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0006718 ovarian leiomyosarcoma 'ovarian leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ovary') http://www.ebi.ac.uk/efo/EFO_0006732 pancreatic adenosquamous carcinoma 'pancreatic adenosquamous carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pancreas') http://www.ebi.ac.uk/efo/EFO_0006740 pulmonary mucoepidermoid carcinoma 'pulmonary mucoepidermoid carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'lung') http://www.ebi.ac.uk/efo/EFO_0006746 RMG-I 'RMG-I' SubClassOf 'cancer cell line' 'RMG-I' SubClassOf 'ovarian cancer cell lines' http://www.ebi.ac.uk/efo/EFO_0006789 typhoid fever 'typhoid fever' SubClassOf 'disease has feature' some 'intestinal perforation' 'typhoid fever' SubClassOf 'disease has feature' some 'exanthem' 'typhoid fever' SubClassOf 'disease has feature' some 'constipation disorder' http://purl.obolibrary.org/obo/MONDO_0015514 hereditary endocrine growth disease 'hereditary endocrine growth disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015523 epithelioid hemangioendothelioma 'epithelioid hemangioendothelioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015526 cold-induced sweating syndrome 'cold-induced sweating syndrome' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0025278 http://purl.obolibrary.org/obo/MONDO_0015525 congenital pseudoarthrosis of the limbs 'congenital pseudoarthrosis of the limbs' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015308 laminopathy type Decaudain-Vigouroux 'laminopathy type Decaudain-Vigouroux' SubClassOf 'bearer_of' some 'rare' 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_0015326 night blindness-skeletal anomalies-dysmorphism syndrome 'night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015333 progeroid syndrome 'progeroid syndrome' SubClassOf 'premature aging syndrome' 'progeroid syndrome' SubClassOf 'premature aging syndrome' http://purl.obolibrary.org/obo/MONDO_0015338 syndromic craniosynostosis 'syndromic craniosynostosis' EquivalentTo 'craniosynostosis' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015337 isolated craniosynostosis 'isolated craniosynostosis' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated craniosynostosis' EquivalentTo 'craniosynostosis' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0015344 idiopathic acute transverse myelitis 'idiopathic acute transverse myelitis' EquivalentTo 'acute transverse myelitis' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0015364 hereditary sensory and autonomic neuropathy 'hereditary sensory and autonomic neuropathy' EquivalentTo 'sensory peripheral neuropathy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/CL_0000218 myelinating Schwann cell 'myelinating Schwann cell' SubClassOf 'glial cell' 'myelinating Schwann cell' SubClassOf http://purl.obolibrary.org/obo/CL_0002573 http://purl.obolibrary.org/obo/CL_0000235 macrophage 'macrophage' SubClassOf http://purl.obolibrary.org/obo/CL_0000234 http://purl.obolibrary.org/obo/MONDO_0015405 cerebrofacial arteriovenous metameric syndrome 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015206 short stature-heart defect-craniofacial anomalies syndrome 'short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome 'arthrogryposis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'bearer_of' some 'congenital' 'Bardet-Biedl syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015235 arachnodactyly-intellectual disability-dysmorphism syndrome 'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'syndromic disease' 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'bearer_of' some 'rare' 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015249 mitral atresia disorder 'mitral atresia disorder' SubClassOf 'inherited mitral valve disease' http://purl.obolibrary.org/obo/MONDO_0015256 blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 'blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015268 medullary sponge kidney 'medullary sponge kidney' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015279 chronic mucocutaneous candidiasis 'chronic mucocutaneous candidiasis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015278 familial pancreatic carcinoma 'familial pancreatic carcinoma' SubClassOf 'bearer_of' some 'rare' 'familial pancreatic carcinoma' EquivalentTo 'pancreatic carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015272 camptodactyly-taurinuria syndrome 'camptodactyly-taurinuria syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015277 medullary thyroid gland carcinoma 'medullary thyroid gland carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/CL_0000570) 'medullary thyroid gland carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/CL_0000570 http://purl.obolibrary.org/obo/HP_0200026 Ocular pain 'Ocular pain' SubClassOf 'Constitutional symptom' 'Ocular pain' SubClassOf http://purl.obolibrary.org/obo/HP_0012531 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 http://purl.obolibrary.org/obo/HP_0001644 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0000518 http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation 'congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015285 Carney complex 'Carney complex' SubClassOf 'disease has feature' some 'adrenal gland neoplasm' 'Carney complex' SubClassOf 'disease has feature' some 'multiple polyglandular tumor' 'Carney complex' SubClassOf 'disease has feature' some 'hyperpigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0015295 intractable diarrhea-choanal atresia-eye anomalies syndrome 'intractable diarrhea-choanal atresia-eye anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0006959 gene methylation measurement 'gene methylation measurement' SubClassOf 'is_about' some 'DNA methylation' 'gene methylation measurement' SubClassOf 'is_about' some http://www.ebi.ac.uk/efo/EFO_0022599 http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy 'polyendocrinopathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0008279 Transient hyperlipidemia 'Transient hyperlipidemia' SubClassOf 'Abnormal circulating lipid concentration' 'Transient hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/HP_0003077 http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia 'complex hereditary spastic paraplegia' EquivalentTo 'hereditary spastic paraplegia' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015170 congenital sodium diarrhea 'congenital sodium diarrhea' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0055078 http://purl.obolibrary.org/obo/MONDO_0015171 congenital enterocyte heparan sulfate deficiency 'congenital enterocyte heparan sulfate deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015175 autoimmune pancreatitis 'autoimmune pancreatitis' SubClassOf 'bearer_of' some 'rare' 'autoimmune pancreatitis' EquivalentTo 'pancreatitis' and ('disease arises from feature' some http://purl.obolibrary.org/obo/HP_0002960) http://purl.obolibrary.org/obo/MONDO_0015183 short bowel syndrome 'short bowel syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015196 vein of Galen aneurysm 'vein of Galen aneurysm' SubClassOf 'bearer_of' some 'rare' 'vein of Galen aneurysm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0006666 http://purl.obolibrary.org/obo/MONDO_0015199 aniridia - intellectual disability syndrome 'aniridia - intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome 'aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0006812 autoimmune thyroid disease 'autoimmune thyroid disease' EquivalentTo 'type II hypersensitivity reaction disease' and ('disease has inflammation site' some 'thyroid gland') http://www.ebi.ac.uk/efo/EFO_0006803 vasculitis 'vasculitis' SubClassOf 'bearer_of' some 'rare' 'vasculitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'vasculature') 'vasculitis' SubClassOf 'disease has inflammation site' some 'vasculature' http://purl.obolibrary.org/obo/GO_0042748 circadian sleep/wake cycle, non-REM sleep 'circadian sleep/wake cycle, non-REM sleep' SubClassOf http://purl.obolibrary.org/obo/GO_0007623 http://purl.obolibrary.org/obo/GO_0042747 circadian sleep/wake cycle, REM sleep 'circadian sleep/wake cycle, REM sleep' SubClassOf http://purl.obolibrary.org/obo/GO_0007623 http://www.ebi.ac.uk/efo/EFO_0006859 head and neck malignant neoplasia 'head and neck malignant neoplasia' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0007811) http://www.ebi.ac.uk/efo/EFO_0006857 cerebral malaria 'cerebral malaria' EquivalentTo 'malaria' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://www.ebi.ac.uk/efo/EFO_0006861 male breast carcinoma 'male breast carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0016410) 'male breast carcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0016410 http://purl.obolibrary.org/obo/MONDO_0015060 mosaic trisomy 3 'mosaic trisomy 3' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015059 progressive non-fluent aphasia 'progressive non-fluent aphasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015070 laryngeal neuroendocrine neoplasm 'laryngeal neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'larynx') 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 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015073 gallbladder neuroendocrine tumor, grade 1/2 'gallbladder neuroendocrine tumor, grade 1/2' EquivalentTo 'gallbladder neuroendocrine neoplasm' and ('bearer_of' some 'tumor grade 1 or 2, general grading system') http://purl.obolibrary.org/obo/MONDO_0015079 multiple polyglandular tumor 'multiple polyglandular tumor' SubClassOf 'disease has feature' some 'endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015084 FRAXF syndrome 'FRAXF syndrome' SubClassOf 'genetic disorder' 'FRAXF syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_280365 Autosomal codominant severe lipodystrophic laminopathy 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'hereditary lipodystrophy' 'Autosomal codominant severe lipodystrophic laminopathy' SubClassOf 'lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0005514 nanophthalmia 'nanophthalmia' SubClassOf 'microphthalmia' 'nanophthalmia' SubClassOf 'microphthalmia' http://www.orpha.net/ORDO/Orphanet_294925 Amelia 'Amelia' SubClassOf 'Dysostosis of genetic origin with limb anomaly as a major feature' 'Amelia' SubClassOf 'Genetic congenital limb malformation' 'Amelia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0005575 colorectal cancer 'colorectal cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colorectum') http://purl.obolibrary.org/obo/MONDO_0001909 renal tubular acidosis 'renal tubular acidosis' EquivalentTo 'acidosis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0009773) http://purl.obolibrary.org/obo/MONDO_0001902 congenital agammaglobulinemia 'congenital agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('bearer_of' some 'congenital') http://purl.obolibrary.org/obo/MONDO_0001926 ureteral disorder 'ureteral disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'ureter' 'ureteral disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'ureter') http://purl.obolibrary.org/obo/MONDO_0001933 endocrine pancreas disorder 'endocrine pancreas disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine pancreas' 'endocrine pancreas disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'endocrine pancreas') http://purl.obolibrary.org/obo/MONDO_0001941 blindness (disorder) 'blindness (disorder)' SubClassOf 'disease has major feature' some 'Blindness' 'blindness (disorder)' EquivalentTo 'vision disorder' and ('disease has major feature' some 'Blindness') http://purl.obolibrary.org/obo/MONDO_0001955 protozoal dysentery 'protozoal dysentery' SubClassOf 'protozoa infectious disease' 'protozoal dysentery' SubClassOf 'protozoa infectious disease' http://www.orpha.net/ORDO/Orphanet_98543 Metabolic disease with dementia 'Metabolic disease with dementia' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism 'familial gestational hyperthyroidism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011327 neuronal intranuclear inclusion disease 'neuronal intranuclear inclusion disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011348 non-syndromic polydactyly 'non-syndromic polydactyly' SubClassOf 'polydactyly' 'non-syndromic polydactyly' EquivalentTo 'polydactyly' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic polydactyly' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic polydactyly' SubClassOf 'polydactyly' http://purl.obolibrary.org/obo/MONDO_0011340 congenital tracheal stenosis 'congenital tracheal stenosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0001806 vaginal squamous tumor 'vaginal squamous tumor' EquivalentTo 'squamous cell neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vagina') http://purl.obolibrary.org/obo/MONDO_0001812 parasitic eyelid infestation 'parasitic eyelid infestation' EquivalentTo 'parasitic infection' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyelid') http://purl.obolibrary.org/obo/MONDO_0001823 sick sinus syndrome 'sick sinus syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/UBERON_0002351 http://purl.obolibrary.org/obo/MONDO_0001829 lumbosacral plexus lesion 'lumbosacral plexus lesion' EquivalentTo 'nerve plexus disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001815) 'lumbosacral plexus lesion' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001815 http://purl.obolibrary.org/obo/MONDO_0001828 acquired color blindness 'acquired color blindness' EquivalentTo 'color vision disorder' and ('bearer_of' some 'acquired') 'acquired color blindness' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0001835 facial paralysis 'facial paralysis' EquivalentTo 'palsy' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001456) 'facial paralysis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001456 http://purl.obolibrary.org/obo/MONDO_0001834 visual pathway disorder 'visual pathway disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001908 'visual pathway disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001908) http://purl.obolibrary.org/obo/MONDO_0001847 nuclear senile cataract 'nuclear senile cataract' EquivalentTo 'senile cataract' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000390) http://purl.obolibrary.org/obo/MONDO_0001852 small intestine lymphoma 'small intestine lymphoma' EquivalentTo 'lymphoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'small intestine') http://purl.obolibrary.org/obo/MONDO_0001858 Tietze syndrome 'Tietze syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002293 'Tietze syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002293) http://purl.obolibrary.org/obo/MONDO_0001879 anus cancer 'anus cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001245) http://purl.obolibrary.org/obo/MONDO_0001878 acquired hypertrophic pyloric stenosis 'acquired hypertrophic pyloric stenosis' EquivalentTo 'infantile hypertrophic pyloric stenosis' and ('bearer_of' some 'acquired') 'acquired hypertrophic pyloric stenosis' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0011208 malignant atrophic papulosis 'malignant atrophic papulosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001898 optic choroid disorder 'optic choroid disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001776) 'optic choroid disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001776 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_0011240 megalencephaly-capillary malformation-polymicrogyria syndrome 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'disease has feature' some 'capillary malformation' http://purl.obolibrary.org/obo/MONDO_0011257 MPI-congenital disorder of glycosylation 'MPI-congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011266 myotonic dystrophy type 2 'myotonic dystrophy type 2' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011273 H syndrome 'H syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011050 microcephaly-cardiac defect-lung malsegmentation syndrome 'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011060 early-onset non-syndromic cataract 'early-onset non-syndromic cataract' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0021516 central nervous system Burkitt lymphoma 'central nervous system Burkitt lymphoma' SubClassOf 'Central Nervous System Lymphoma' 'central nervous system Burkitt lymphoma' SubClassOf 'central nervous system non-hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0011081 dislocation of the hip-dysmorphism syndrome 'dislocation of the hip-dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011093 mucopolysaccharidosis type 9 'mucopolysaccharidosis type 9' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_98702 Connective tissue disease with eye involvement 'Connective tissue disease with eye involvement' SubClassOf 'hereditary disorder of connective tissue' 'Connective tissue disease with eye involvement' SubClassOf 'connective tissue disease' http://purl.obolibrary.org/obo/HP_0008967 Exercise-induced muscle stiffness 'Exercise-induced muscle stiffness' SubClassOf 'Abnormal muscle physiology' 'Exercise-induced muscle stiffness' SubClassOf http://purl.obolibrary.org/obo/HP_0003552 http://purl.obolibrary.org/obo/MONDO_0001704 vaginal glandular neoplasm 'vaginal glandular neoplasm' EquivalentTo 'glandular cell neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vagina') http://purl.obolibrary.org/obo/MONDO_0001703 color vision disorder 'color vision disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some http://purl.obolibrary.org/obo/CL_0000573 http://purl.obolibrary.org/obo/HP_0008970 Scapulohumeral muscular dystrophy 'Scapulohumeral muscular dystrophy' SubClassOf 'Abnormal skeletal muscle morphology' 'Scapulohumeral muscular dystrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0003560 http://purl.obolibrary.org/obo/MONDO_0001713 inherited aplastic anemia 'inherited aplastic anemia' EquivalentTo 'aplastic anemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0001721 urethral intrinsic sphincter deficiency 'urethral intrinsic sphincter deficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0004917 http://purl.obolibrary.org/obo/MONDO_0001724 supraglottis cancer 'supraglottis cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0036263) http://purl.obolibrary.org/obo/MONDO_0001734 tuberous sclerosis 'tuberous sclerosis' SubClassOf 'disease has feature' some 'hamartoma' http://purl.obolibrary.org/obo/MONDO_0001748 maxillary sinus carcinoma 'maxillary sinus carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001764) http://purl.obolibrary.org/obo/MONDO_0001749 cortical senile cataract 'cortical senile cataract' EquivalentTo 'senile cataract' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000389) 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_0001764 ethmoidal sinus neoplasm 'ethmoidal sinus neoplasm' EquivalentTo 'neoplasm' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002453) 'ethmoidal sinus neoplasm' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002453 http://purl.obolibrary.org/obo/MONDO_0001763 ethmoid sinus cancer 'ethmoid sinus cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002453) http://purl.obolibrary.org/obo/MONDO_0011107 congenital hypotrichosis with juvenile macular dystrophy 'congenital hypotrichosis with juvenile macular dystrophy' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0001780 premature ejaculation 'premature ejaculation' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0042713 http://purl.obolibrary.org/obo/MONDO_0011101 peroxisome biogenesis disorder 1B 'peroxisome biogenesis disorder 1B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis 'iridogoniodysgenesis' SubClassOf 'anterior segment dysgenesis' 'iridogoniodysgenesis' SubClassOf 'anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0011110 dyssegmental dysplasia-glaucoma syndrome 'dyssegmental dysplasia-glaucoma syndrome' SubClassOf 'syndromic disease' 'dyssegmental dysplasia-glaucoma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011116 lung agenesis-heart defect-thumb anomalies syndrome 'lung agenesis-heart defect-thumb anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 'T-cell immunodeficiency, congenital alopecia, and nail dystrophy' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency 'PHGDH deficiency' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_98662 Unclassified familial retinal dystrophy 'Unclassified familial retinal dystrophy' SubClassOf 'Retinal dystrophy' 'Unclassified familial retinal dystrophy' SubClassOf 'Genetic vitreous-retinal disease' http://www.orpha.net/ORDO/Orphanet_98666 Unclassified primitive or secondary maculopathy 'Unclassified primitive or secondary maculopathy' SubClassOf 'Retinal dystrophy' 'Unclassified primitive or secondary maculopathy' SubClassOf 'Genetic vitreous-retinal disease' http://purl.obolibrary.org/obo/MONDO_0001618 balanoposthitis 'balanoposthitis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001299) and ('disease has inflammation site' some 'prepuce of penis') http://www.orpha.net/ORDO/Orphanet_98668 Vitreoretinopathy 'Vitreoretinopathy' SubClassOf 'Genetic vitreous-retinal disease' 'Vitreoretinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0008807 Acetabular dysplasia 'Acetabular dysplasia' SubClassOf 'Abnormality of the lower limb' 'Acetabular dysplasia' SubClassOf 'Abnormal skeletal morphology' 'Acetabular dysplasia' SubClassOf http://purl.obolibrary.org/obo/HP_0001384 http://purl.obolibrary.org/obo/MONDO_0001627 dementia 'dementia' EquivalentTo 'cognitive disorder' and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0000726) 'dementia' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0000726 http://www.orpha.net/ORDO/Orphanet_98685 Oculomotor palsy 'Oculomotor palsy' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0001657 brain cancer 'brain cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'brain') http://purl.obolibrary.org/obo/MONDO_0001674 diverticulitis of colon 'diverticulitis of colon' EquivalentTo 'diverticulitis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'colon') http://purl.obolibrary.org/obo/MONDO_0001673 diarrheal disease 'diarrheal disease' EquivalentTo 'disease' and ('disease has major feature' some 'Diarrhea') 'diarrheal disease' SubClassOf 'disease has major feature' some 'Diarrhea' http://purl.obolibrary.org/obo/MONDO_0001672 bronchus cancer 'bronchus cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'bronchus') http://purl.obolibrary.org/obo/MONDO_0001684 exocrine pancreatic insufficiency 'exocrine pancreatic insufficiency' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0000017 http://purl.obolibrary.org/obo/MONDO_0011007 diaphragmatic defect-limb deficiency-skull defect syndrome 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'bearer_of' some 'rare' 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'syndromic disease' 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011003 dilated cardiomyopathy 1E 'dilated cardiomyopathy 1E' SubClassOf 'syndromic disease' 'dilated cardiomyopathy 1E' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011012 African iron overload 'African iron overload' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011024 dermatitis herpetiformis, familial 'dermatitis herpetiformis, familial' EquivalentTo 'dermatitis herpetiformis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0011035 neurofibromatosis-Noonan syndrome 'neurofibromatosis-Noonan syndrome' SubClassOf 'rasopathy' 'neurofibromatosis-Noonan syndrome' SubClassOf 'rasopathy' http://purl.obolibrary.org/obo/MONDO_0001498 varicocele 'varicocele' EquivalentTo 'varicose disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001300) http://www.orpha.net/ORDO/Orphanet_64753 Spinocerebellar ataxia with axonal neuropathy type 2 'Spinocerebellar ataxia with axonal neuropathy type 2' SubClassOf 'eye degenerative disorder' http://www.orpha.net/ORDO/Orphanet_64748 Dejerine-Sottas syndrome 'Dejerine-Sottas syndrome' SubClassOf 'hereditary motor neuron disease' 'Dejerine-Sottas syndrome' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0001502 retroperitoneum carcinoma 'retroperitoneum carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'retroperitoneal space') http://purl.obolibrary.org/obo/MONDO_0001528 vulva cancer 'vulva cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin 'secondary hyperparathyroidism of renal origin' EquivalentTo 'secondary hyperparathyroidism' and (http://purl.obolibrary.org/obo/RO_0004020 some 'kidney') http://purl.obolibrary.org/obo/MONDO_0001543 lesion of sciatic nerve 'lesion of sciatic nerve' EquivalentTo 'peripheral nerve lesion' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sciatic nerve') 'lesion of sciatic nerve' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'sciatic nerve' http://purl.obolibrary.org/obo/MONDO_0001551 ulceration of vulva 'ulceration of vulva' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0003249 'ulceration of vulva' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva' 'ulceration of vulva' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'mammalian vulva') and ('disease has major feature' some http://purl.obolibrary.org/obo/HP_0003249) http://purl.obolibrary.org/obo/MONDO_0001557 olecranon bursitis 'olecranon bursitis' EquivalentTo 'bursitis' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001490) 'olecranon bursitis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001490 http://purl.obolibrary.org/obo/MONDO_0001558 Potter sequence 'Potter sequence' SubClassOf 'oligohydramnios' 'Potter sequence' SubClassOf 'syndromic disease' 'Potter sequence' DisjointWith 'bilateral renal agenesis' http://purl.obolibrary.org/obo/MONDO_0001563 vestibulocochlear nerve disorder 'vestibulocochlear nerve disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001648 'vestibulocochlear nerve disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001648) http://purl.obolibrary.org/obo/MONDO_0001566 hypercalcemia disease 'hypercalcemia disease' SubClassOf 'disease has major feature' some 'Hypercalcemia' http://purl.obolibrary.org/obo/MONDO_0001574 capillary disorder 'capillary disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'capillary' 'capillary disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'capillary') http://purl.obolibrary.org/obo/MONDO_0001586 mucopolysaccharidosis type 1 'mucopolysaccharidosis type 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001580 lacrimal duct cancer 'lacrimal duct cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001850 'lacrimal duct cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001850) http://purl.obolibrary.org/obo/MONDO_0001597 submandibular gland disorder 'submandibular gland disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'submandibular gland' 'submandibular gland disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'submandibular gland') http://purl.obolibrary.org/obo/MONDO_0001374 bladder sarcoma 'bladder sarcoma' EquivalentTo 'sarcoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') http://purl.obolibrary.org/obo/MONDO_0001378 urachus cancer 'urachus cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002068 'urachus cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002068) http://purl.obolibrary.org/obo/MONDO_0001382 hepatorenal syndrome 'hepatorenal syndrome' SubClassOf 'disease has feature' some 'kidney failure' http://purl.obolibrary.org/obo/MONDO_0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked 'multiple congenital anomalies-neurodevelopmental syndrome, X-linked' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/CL_2000018 endothelial cell of coronary artery 'endothelial cell of coronary artery' SubClassOf http://purl.obolibrary.org/obo/CL_0002494 http://purl.obolibrary.org/obo/MONDO_0001402 vaginal cancer 'vaginal cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vagina') http://purl.obolibrary.org/obo/MONDO_0001407 tracheal cancer 'tracheal cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'trachea') http://purl.obolibrary.org/obo/MONDO_0001409 esophagitis 'esophagitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'esophagus') 'esophagitis' SubClassOf 'disease has inflammation site' some 'esophagus' http://purl.obolibrary.org/obo/MONDO_0001410 postmenopausal atrophic vaginitis 'postmenopausal atrophic vaginitis' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/HP_0025132 http://purl.obolibrary.org/obo/MONDO_0001433 vaginal disorder 'vaginal disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'vagina' 'vaginal disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vagina') http://purl.obolibrary.org/obo/MONDO_0001437 pulmonary alveolar proteinosis 'pulmonary alveolar proteinosis' SubClassOf 'disease has major feature' some 'Intraalveolar phospholipid accumulation' 'pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0007585 'pulmonary alveolar proteinosis' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'type II pneumocyte' http://purl.obolibrary.org/obo/MONDO_0001444 Chagas disease 'Chagas disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001458 ulnar nerve lesion 'ulnar nerve lesion' SubClassOf 'ulnar neuropathy' 'ulnar nerve lesion' SubClassOf 'ulnar neuropathy' 'ulnar nerve lesion' EquivalentTo 'peripheral nerve lesion' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001494) http://purl.obolibrary.org/obo/MONDO_0001459 radial neuropathy 'radial neuropathy' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001492 'radial neuropathy' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001492) http://purl.obolibrary.org/obo/MONDO_0001464 sigmoid colon cancer 'sigmoid colon cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'sigmoid colon') http://purl.obolibrary.org/obo/MONDO_0001468 synovial plica syndrome 'synovial plica syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002018 'synovial plica syndrome' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'knee' http://purl.obolibrary.org/obo/MONDO_0001487 intrahepatic bile duct cancer 'intrahepatic bile duct cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003704) 'intrahepatic bile duct cancer' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0003704 http://www.orpha.net/ORDO/Orphanet_98054 Rare genetic cardiac disease 'Rare genetic cardiac disease' SubClassOf 'cardiogenetic disease' 'Rare genetic cardiac disease' SubClassOf 'heart disease' 'Rare genetic cardiac disease' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0006352 laryngeal squamous cell carcinoma 'laryngeal squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'larynx') http://purl.obolibrary.org/obo/MONDO_0001269 scleral disorder 'scleral disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001773 'scleral disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001773) http://purl.obolibrary.org/obo/MONDO_0001280 choroiditis 'choroiditis' SubClassOf 'disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001776 'choroiditis' EquivalentTo 'disease' and ('disease has inflammation site' some http://purl.obolibrary.org/obo/UBERON_0001776) http://purl.obolibrary.org/obo/MONDO_0001285 endometriosis of pelvic peritoneum 'endometriosis of pelvic peritoneum' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'pelvic region of trunk' 'endometriosis of pelvic peritoneum' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum' 'endometriosis of pelvic peritoneum' EquivalentTo 'endometriosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pelvic region of trunk') and (http://purl.obolibrary.org/obo/RO_0004026 some 'peritoneum') http://purl.obolibrary.org/obo/MONDO_0001282 fallopian tube endometriosis 'fallopian tube endometriosis' EquivalentTo 'endometriosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0001296 acquired night blindness 'acquired night blindness' SubClassOf 'acquired metabolic disease' 'acquired night blindness' SubClassOf 'bearer_of' some 'acquired' 'acquired night blindness' EquivalentTo 'night blindness' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/UBERON_0003126 trachea 'trachea' SubClassOf 'part of' some http://purl.obolibrary.org/obo/UBERON_0007196 http://purl.obolibrary.org/obo/UBERON_0003124 chorion membrane 'chorion membrane' SubClassOf 'anatomical structure' 'chorion membrane' SubClassOf http://purl.obolibrary.org/obo/UBERON_0005631 http://www.orpha.net/ORDO/Orphanet_88950 Autosomal dominant medullary cystic kidney disease with hyperuricemia 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'inherited kidney disorder' 'Autosomal dominant medullary cystic kidney disease with hyperuricemia' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia 'syndromic dyslipidemia' EquivalentTo 'inherited lipid metabolism disorder' and ('bearer_of' some 'has a syndromic presentation') 'syndromic dyslipidemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015903 hyperalphalipoproteinemia 'hyperalphalipoproteinemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015914 primary orthostatic hypotension 'primary orthostatic hypotension' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy 'acquired peripheral neuropathy' SubClassOf 'bearer_of' some 'rare' 'acquired peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and ('bearer_of' some 'acquired') 'acquired peripheral neuropathy' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0001300 autonomic neuropathy 'autonomic neuropathy' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0002410) http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis 'inherited ichthyosis' EquivalentTo 'ichthyosis' and ('bearer_of' some 'inherited') 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 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0001309 oculomotor nerve paralysis 'oculomotor nerve paralysis' EquivalentTo 'cranial nerve palsy' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001643) http://purl.obolibrary.org/obo/MONDO_0015951 hereditary photodermatosis 'hereditary photodermatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001322 pericardium cancer 'pericardium cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'pericardium') http://purl.obolibrary.org/obo/MONDO_0001325 penile cancer 'penile cancer' SubClassOf 'bearer_of' some 'rare' 'penile cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'penis') http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease 'inherited renal tubular disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001328 thyroid hormone resistance syndrome 'thyroid hormone resistance syndrome' SubClassOf 'disease has feature' some 'hyperthyroxinemia' 'thyroid hormone resistance syndrome' SubClassOf 'disease has major feature' some http://purl.obolibrary.org/obo/HP_0031097 http://purl.obolibrary.org/obo/MONDO_0001336 familial hyperlipidemia 'familial hyperlipidemia' EquivalentTo 'hyperlipidemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0001334 hypertrichosis of eyelid 'hypertrichosis of eyelid' EquivalentTo 'hypertrichosis' and (http://purl.obolibrary.org/obo/RO_0004026 some 'eyelid') http://www.ebi.ac.uk/efo/EFO_0006318 breast ductal adenocarcinoma 'breast ductal adenocarcinoma' EquivalentTo 'adenocarcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001765) 'breast ductal adenocarcinoma' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001765 http://purl.obolibrary.org/obo/MONDO_0015974 severe combined immunodeficiency 'severe combined immunodeficiency' DisjointWith 'non-SCID combined immunodeficiency' 'severe combined immunodeficiency' DisjointWith 'non-SCID combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0015978 functional neutrophil defect 'functional neutrophil defect' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'neutrophil' 'functional neutrophil defect' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some 'neutrophil') http://purl.obolibrary.org/obo/MONDO_0001343 impaired renal function disease 'impaired renal function disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004020 some 'kidney') 'impaired renal function disease' SubClassOf http://purl.obolibrary.org/obo/RO_0004020 some 'kidney' http://purl.obolibrary.org/obo/MONDO_0001340 heart cancer 'heart cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'heart') http://purl.obolibrary.org/obo/MONDO_0015988 multicystic dysplastic kidney 'multicystic dysplastic kidney' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015986 bilateral renal agenesis 'Potter sequence' DisjointWith 'bilateral renal agenesis' http://purl.obolibrary.org/obo/MONDO_0015999 primary pigmented nodular adrenocortical disease 'primary pigmented nodular adrenocortical disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015779 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015771 mosaic trisomy 7 'mosaic trisomy 7' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0001146 fourth cranial nerve palsy 'fourth cranial nerve palsy' EquivalentTo 'cranial nerve palsy' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0001644) http://purl.obolibrary.org/obo/MONDO_0001152 amnestic disorder 'amnestic disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004024 some http://purl.obolibrary.org/obo/GO_0007613 http://purl.obolibrary.org/obo/MONDO_0015798 inflammatory myofibroblastic tumor 'inflammatory myofibroblastic tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001165 tongue disorder 'tongue disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some 'tongue' 'tongue disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some 'tongue') http://purl.obolibrary.org/obo/MONDO_0001174 conjunctival vascular disorder 'conjunctival vascular disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0010366) 'conjunctival vascular disorder' SubClassOf http://purl.obolibrary.org/obo/RO_0004026 some http://purl.obolibrary.org/obo/UBERON_0010366 http://purl.obolibrary.org/obo/MONDO_0001187 urinary bladder cancer 'urinary bladder cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'urinary bladder') http://purl.obolibrary.org/obo/MONDO_0001182 idiopathic corneal edema 'idiopathic corneal edema' EquivalentTo 'corneal edema' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0001198 acquired thrombocytopenia 'acquired thrombocytopenia' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0025193 oculopharyngodistal myopathy 'oculopharyngodistal myopathy' SubClassOf 'distal myopathy' 'oculopharyngodistal myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0015802 autosomal dominant non-syndromic intellectual disability 'autosomal dominant non-syndromic intellectual disability' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015819 indolent primary cutaneous B-cell lymphoma 'indolent primary cutaneous B-cell lymphoma' SubClassOf 'immune system cancer' 'indolent primary cutaneous B-cell lymphoma' SubClassOf 'lymphatic system cancer' http://purl.obolibrary.org/obo/MONDO_0015855 isolated congenital breast hypoplasia/aplasia 'isolated congenital breast hypoplasia/aplasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001222 congenital T-cell immunodeficiency 'congenital T-cell immunodeficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015867 vaginal carcinoma 'vaginal carcinoma' EquivalentTo 'carcinoma' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vagina') http://purl.obolibrary.org/obo/MONDO_0001235 appendix cancer 'appendix cancer' EquivalentTo 'cancer' and (http://purl.obolibrary.org/obo/RO_0004026 some 'vermiform appendix') http://purl.obolibrary.org/obo/UBERON_0002446 patella 'patella' SubClassOf 'hindlimb bone' 'patella' SubClassOf 'part of' some 'leg' 'patella' SubClassOf 'part of' some 'appendicular skeleton' 'patella' SubClassOf 'part of' some 'knee' http://purl.obolibrary.org/obo/UBERON_0002453 ethmoid sinus 'ethmoid sinus' SubClassOf 'paranasal sinus' http://purl.obolibrary.org/obo/UBERON_0002410 autonomic nervous system 'autonomic nervous system' SubClassOf 'anatomical structure' 'autonomic nervous system' SubClassOf 'part of' some 'peripheral nervous system' 'autonomic nervous system' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/HP_0004431 Reduced circulating complement concentration 'Reduced circulating complement concentration' SubClassOf 'Abnormality of the immune system' http://purl.obolibrary.org/obo/HP_0004430 Severe combined immunodeficiency 'Severe combined immunodeficiency' SubClassOf 'Combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0021500 benign neoplasm of spleen 'benign neoplasm of spleen' SubClassOf 'immune system organ benign neoplasm' 'benign neoplasm of spleen' SubClassOf 'spleen neoplasm' 'benign neoplasm of spleen' EquivalentTo 'benign neoplasm' and ('disease has location' some 'spleen') http://purl.obolibrary.org/obo/MONDO_0021509 benign neoplasm of myocardium 'benign neoplasm of myocardium' SubClassOf 'benign neoplasm of heart' 'benign neoplasm of myocardium' EquivalentTo 'benign neoplasm' and ('disease has location' some 'myocardium') 'benign neoplasm of myocardium' SubClassOf 'neoplasm of myocardium' 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 'benign endocrine neoplasm' 'benign neoplasm of gallbladder' EquivalentTo 'benign neoplasm' and ('disease has location' some 'gallbladder') 'benign neoplasm of gallbladder' SubClassOf 'gallbladder neoplasm' http://purl.obolibrary.org/obo/MONDO_0021505 benign neoplasm of endocardium 'benign neoplasm of endocardium' EquivalentTo 'benign neoplasm' and ('disease has location' some 'endocardium') 'benign neoplasm of endocardium' SubClassOf 'neoplasm of endocardium' 'benign neoplasm of endocardium' SubClassOf 'benign neoplasm of heart' 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'brainstem') '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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'epicardium') http://purl.obolibrary.org/obo/UBERON_0002481 bone tissue 'bone tissue' SubClassOf 'part of' some 'bone element' 'bone tissue' DisjointWith 'muscle structure' 'bone tissue' SubClassOf 'connective tissue' 'bone tissue' SubClassOf 'skeleton structure' 'bone tissue' SubClassOf 'part of' some 'skeletal element' http://purl.obolibrary.org/obo/UBERON_0002486 glottis 'glottis' SubClassOf 'anatomical structure' 'glottis' SubClassOf 'part of' some 'larynx' 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 'benign digestive system neoplasm' 'benign neoplasm of floor of mouth' EquivalentTo 'benign neoplasm' and ('disease has location' some 'mouth floor') http://purl.obolibrary.org/obo/MONDO_0021521 benign neoplasm of mediastinum 'benign neoplasm of mediastinum' EquivalentTo 'benign neoplasm' and ('disease has location' some 'mediastinum') 'benign neoplasm of mediastinum' SubClassOf 'neoplasm of mediastinum' 'benign neoplasm of mediastinum' SubClassOf 'thoracic benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021523 benign neoplasm of pharynx 'benign neoplasm of pharynx' SubClassOf 'pharynx neoplasm' 'benign neoplasm of pharynx' EquivalentTo 'benign neoplasm' and ('disease has location' some 'pharynx') 'benign neoplasm of pharynx' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021527 benign neoplasm of meninges 'benign neoplasm of meninges' EquivalentTo 'benign neoplasm' and ('disease has location' some 'meningeal cluster') 'benign neoplasm of meninges' SubClassOf 'central nervous system organ benign 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 'disease has location' some 'male breast' 'benign neoplasm of male breast' EquivalentTo 'benign neoplasm' and ('disease has location' some 'male breast') 'benign neoplasm of male breast' SubClassOf 'breast benign neoplasm' http://purl.obolibrary.org/obo/UBERON_0002495 long bone 'long bone' SubClassOf 'part of' some 'appendicular skeleton' 'long bone' SubClassOf 'bone element' http://purl.obolibrary.org/obo/MONDO_0021512 benign neoplasm of thymus 'benign neoplasm of thymus' SubClassOf 'thymus neoplasm' 'benign neoplasm of thymus' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of thymus' EquivalentTo 'benign neoplasm' and ('disease has location' some 'thymus') 'benign neoplasm of thymus' SubClassOf 'immune system organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021513 benign neoplasm of tonsil 'benign neoplasm of tonsil' EquivalentTo 'benign neoplasm' and ('disease has location' some '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' http://purl.obolibrary.org/obo/MONDO_0021514 benign neoplasm of pericardium 'benign neoplasm of pericardium' SubClassOf 'cardiovascular organ benign neoplasm' 'benign neoplasm of pericardium' SubClassOf 'thoracic benign neoplasm' 'benign neoplasm of pericardium' SubClassOf 'neoplasm of pericardium' 'benign neoplasm of pericardium' EquivalentTo 'benign neoplasm' and ('disease has location' some '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 'bone benign neoplasm' 'benign neoplasm of ethmoidal sinus' SubClassOf 'sensory organ benign neoplasm' 'benign neoplasm of ethmoidal sinus' EquivalentTo 'benign neoplasm' and ('disease has location' some 'ethmoid sinus') http://purl.obolibrary.org/obo/MONDO_0021516 benign neoplasm of glottis 'benign neoplasm of glottis' EquivalentTo 'benign neoplasm' and ('disease has location' some 'glottis') '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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'trachea') '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' EquivalentTo 'hamartoma' and ('disease has location' some 'lung') 'hamartoma of lung' SubClassOf 'lung neoplasm' http://purl.obolibrary.org/obo/MONDO_0021541 hemangioma of retina 'hemangioma of retina' EquivalentTo 'hemangioma' and ('disease has location' some 'retina') 'hemangioma of retina' SubClassOf 'neurovascular disorder' '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' EquivalentTo 'hemangioma' and ('disease has location' some 'optic 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' EquivalentTo 'hemangioma' and ('disease has location' some 'gingiva') 'hemangioma of gingiva' SubClassOf 'hemangioma' 'hemangioma of gingiva' SubClassOf 'benign neoplasm of gum' http://purl.obolibrary.org/obo/MONDO_0021531 fibroma of lung 'fibroma of lung' SubClassOf 'lung neoplasm' 'fibroma of lung' EquivalentTo 'fibroma' and ('disease has location' some 'lung') 'fibroma of lung' SubClassOf 'fibroma' http://purl.obolibrary.org/obo/MONDO_0021532 fibroma of prostate 'fibroma of prostate' EquivalentTo 'fibroma' and ('disease has location' some 'prostate gland') 'fibroma of prostate' SubClassOf 'benign neoplasm of prostate' 'fibroma of prostate' SubClassOf 'fibroma' 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' http://purl.obolibrary.org/obo/MONDO_0021535 pancreatic neuroendocrine tumor G1 'pancreatic neuroendocrine tumor G1' SubClassOf 'pancreatic neuroendocrine tumor' 'pancreatic neuroendocrine tumor G1' SubClassOf 'carcinoid tumor' http://purl.obolibrary.org/obo/MONDO_0021537 undifferentiated carcinoma of nasopharynx 'undifferentiated carcinoma of nasopharynx' SubClassOf 'undifferentiated carcinoma' 'undifferentiated carcinoma of nasopharynx' SubClassOf 'nasopharyngeal carcinoma' 'undifferentiated carcinoma of nasopharynx' EquivalentTo 'undifferentiated carcinoma' and ('disease has location' some 'nasopharynx') http://purl.obolibrary.org/obo/MONDO_0021538 verrucous carcinoma of oral cavity 'verrucous carcinoma of oral cavity' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'oral cavity') 'verrucous carcinoma of oral cavity' SubClassOf 'verrucous carcinoma' 'verrucous carcinoma of oral cavity' SubClassOf 'oral squamous cell carcinoma' http://purl.obolibrary.org/obo/HP_0004381 Supravalvular aortic stenosis 'Supravalvular aortic stenosis' SubClassOf 'Abnormal aortic valve physiology' http://purl.obolibrary.org/obo/HP_0004394 Multiple gastric polyps 'Multiple gastric polyps' SubClassOf 'Abnormal gastrointestinal tract morphology' http://purl.obolibrary.org/obo/HP_0004319 Decreased circulating aldosterone level 'Decreased circulating aldosterone level' SubClassOf 'Abnormality of the adrenal glands' http://purl.obolibrary.org/obo/MONDO_0021576 fallopian tube endometrioid tumor 'fallopian tube endometrioid tumor' SubClassOf 'fallopian tube neoplasm' 'fallopian tube endometrioid tumor' SubClassOf 'endometrium neoplasm' 'fallopian tube endometrioid tumor' EquivalentTo 'endometrium neoplasm' and ('disease has location' some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0021579 neoplasm of femur 'neoplasm of femur' EquivalentTo 'neoplasm' and ('disease has location' some 'femur') 'neoplasm of femur' SubClassOf 'bone neoplasm' 'neoplasm of femur' SubClassOf 'disease has location' some 'femur' http://purl.obolibrary.org/obo/GO_0019229 regulation of vasoconstriction 'regulation of vasoconstriction' SubClassOf 'regulation of system process' 'regulation of vasoconstriction' SubClassOf 'system process' 'regulation of vasoconstriction' SubClassOf 'part of' some 'blood circulation' http://purl.obolibrary.org/obo/UBERON_0002328 notochord 'notochord' SubClassOf 'anatomical structure' 'notochord' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0002337 endometrial stroma 'endometrial stroma' SubClassOf 'part of' some 'reproductive system' 'endometrial stroma' SubClassOf 'anatomical structure' 'endometrial stroma' SubClassOf 'part of' some 'endometrium' http://purl.obolibrary.org/obo/UBERON_0002330 exocrine system 'circulatory system' DisjointWith 'exocrine system' 'reproductive system' DisjointWith 'exocrine system' 'exocrine system' SubClassOf 'anatomical system' 'biliary system' DisjointWith 'exocrine system' 'exocrine system' DisjointWith 'integumental system' 'exocrine system' DisjointWith 'hepatobiliary system' 'exocrine system' DisjointWith 'hematopoietic system' 'skeletal system' DisjointWith 'exocrine system' 'gustatory system' DisjointWith 'exocrine system' 'musculoskeletal system' DisjointWith 'exocrine system' 'exocrine system' DisjointWith 'immune system' 'respiratory system' DisjointWith 'exocrine system' 'endocrine system' DisjointWith 'exocrine system' 'nervous system' DisjointWith 'exocrine system' 'digestive system' DisjointWith 'exocrine system' http://purl.obolibrary.org/obo/UBERON_0002348 epicardium 'epicardium' SubClassOf 'heart component' 'epicardium' SubClassOf 'part of' some 'heart' http://purl.obolibrary.org/obo/UBERON_0002346 neurectoderm 'neurectoderm' SubClassOf 'anatomical structure' 'neurectoderm' SubClassOf 'part of' some 'embryo' 'neurectoderm' SubClassOf 'part of' some 'multicellular organism' 'neurectoderm' SubClassOf 'embryonic structure' 'neurectoderm' SubClassOf 'part of' some 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0002393 pharyngotympanic tube 'pharyngotympanic tube' SubClassOf 'part of' some 'middle ear' 'pharyngotympanic tube' SubClassOf 'anatomical structure' 'pharyngotympanic tube' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0002398 manus 'manus' SubClassOf 'part of' some 'multicellular organism' 'manus' SubClassOf 'part of' some 'forelimb' 'manus' SubClassOf 'part of' some 'limb' 'manus' SubClassOf 'anatomical structure' 'manus' SubClassOf 'part of' some 'appendage' http://purl.obolibrary.org/obo/HP_0004313 Decreased circulating antibody level 'Decreased circulating antibody level' SubClassOf 'Abnormal cellular physiology' 'Decreased circulating antibody level' SubClassOf 'Abnormality of blood and blood-forming tissues' 'Decreased circulating antibody level' SubClassOf 'Abnormality of the immune system' http://purl.obolibrary.org/obo/UBERON_0002351 sinoatrial node 'sinoatrial node' SubClassOf 'part of' some 'right cardiac atrium' 'sinoatrial node' SubClassOf 'part of' some 'myocardium' 'sinoatrial node' SubClassOf 'heart component' 'sinoatrial node' SubClassOf 'part of' some 'myocardium of atrium' 'sinoatrial node' SubClassOf 'part of' some 'cardiac atrium' 'sinoatrial node' SubClassOf 'cardiac muscle tissue' 'sinoatrial node' SubClassOf 'part of' some 'conducting system of heart' http://purl.obolibrary.org/obo/UBERON_0002369 adrenal gland 'adrenal gland' SubClassOf 'part of' some 'abdomen' 'adrenal gland' SubClassOf 'endocrine gland' 'adrenal gland' SubClassOf 'part of' some 'trunk' 'adrenal gland' SubClassOf 'part of' some 'anatomical system' 'adrenal gland' SubClassOf 'part of' some 'endocrine system' http://purl.obolibrary.org/obo/UBERON_0002364 tympanic membrane 'tympanic membrane' SubClassOf 'anatomical structure' 'tympanic membrane' SubClassOf 'part of' some 'anatomical system' 'tympanic membrane' SubClassOf 'part of' some 'middle ear' http://purl.obolibrary.org/obo/UBERON_0002385 muscle tissue 'muscle tissue' SubClassOf 'part of' some 'musculature' 'muscle tissue' SubClassOf 'part of' some 'multicellular organism' 'muscle tissue' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0021424 hemangiopericytoma of skin 'hemangiopericytoma of skin' SubClassOf 'skin neoplasm' 'hemangiopericytoma of skin' SubClassOf 'hemangiopericytoma' 'hemangiopericytoma of skin' EquivalentTo 'hemangiopericytoma' and ('disease has location' some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0021427 squamous cell carcinoma of lip 'squamous cell carcinoma of lip' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'lip') '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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'mouth floor') '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 'mouth disease' 'polyp of maxillary sinus' EquivalentTo 'polyp' and ('disease has location' some 'maxillary sinus') 'polyp of maxillary sinus' SubClassOf 'polyp' 'polyp of maxillary sinus' SubClassOf 'disease has location' some 'maxillary sinus' 'polyp of maxillary sinus' SubClassOf 'paranasal sinus disease' 'polyp of maxillary sinus' SubClassOf 'disorder of facial skeleton' http://purl.obolibrary.org/obo/MONDO_0021418 polyp of ethmoidal sinus 'polyp of ethmoidal sinus' SubClassOf 'disease has location' some 'ethmoid sinus' 'polyp of ethmoidal sinus' SubClassOf 'polyp' 'polyp of ethmoidal sinus' SubClassOf 'paranasal sinus disease' 'polyp of ethmoidal sinus' EquivalentTo 'polyp' and ('disease has location' some 'ethmoid sinus') 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'exocrine pancreas') http://purl.obolibrary.org/obo/MONDO_0021443 benign neoplasm of lymph node 'benign neoplasm of lymph node' SubClassOf 'immune system organ benign neoplasm' 'benign neoplasm of lymph node' EquivalentTo 'benign neoplasm' and ('disease has location' some 'lymph node') 'benign neoplasm of lymph node' SubClassOf 'lymph node neoplasm' http://purl.obolibrary.org/obo/MONDO_0021447 benign neoplasm of testis 'benign neoplasm of testis' SubClassOf 'benign male reproductive system neoplasm' 'benign neoplasm of testis' EquivalentTo 'benign neoplasm' and ('disease has location' some 'testis') 'benign neoplasm of testis' SubClassOf 'neoplasm of testis' http://purl.obolibrary.org/obo/MONDO_0021437 lipoma of stomach 'lipoma of stomach' EquivalentTo 'lipoma' and ('disease has location' some 'stomach') 'lipoma of stomach' SubClassOf 'lipoma' 'lipoma of stomach' SubClassOf 'benign neoplasm of stomach' 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'hypopharynx') 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'caecum') http://purl.obolibrary.org/obo/MONDO_0021465 benign neoplasm of appendix 'benign neoplasm of appendix' SubClassOf 'appendiceal neoplasm' 'benign neoplasm of appendix' EquivalentTo 'benign neoplasm' and ('disease has location' some 'vermiform appendix') 'benign neoplasm of appendix' SubClassOf 'benign neoplasm of cecum' 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'renal pelvis') http://purl.obolibrary.org/obo/MONDO_0021453 benign neoplasm of retina 'benign neoplasm of retina' EquivalentTo 'benign neoplasm' and ('disease has location' some 'retina') 'benign neoplasm of retina' SubClassOf 'Retinal Neoplasm' 'benign neoplasm of retina' SubClassOf 'benign neoplasm of eye' http://purl.obolibrary.org/obo/MONDO_0021455 benign neoplasm of neck 'benign neoplasm of neck' SubClassOf 'neoplasm of neck' 'benign neoplasm of neck' SubClassOf 'benign neoplasm' 'benign neoplasm of neck' EquivalentTo 'benign neoplasm' and ('disease has location' some 'neck') http://purl.obolibrary.org/obo/MONDO_0021457 benign neoplasm of pleura 'benign neoplasm of pleura' EquivalentTo 'benign neoplasm' and ('disease has location' some 'pleura') '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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'penis') 'benign neoplasm of penis' SubClassOf 'benign male reproductive system neoplasm' 'benign neoplasm of penis' SubClassOf 'penile neoplasm' http://purl.obolibrary.org/obo/MONDO_0021459 benign neoplasm of esophagus 'benign neoplasm of esophagus' EquivalentTo 'benign neoplasm' and ('disease has location' some 'esophagus') 'benign neoplasm of esophagus' SubClassOf 'thoracic benign 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' EquivalentTo 'benign neoplasm' and ('disease has location' some '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 'bone benign neoplasm' 'benign neoplasm of maxillary sinus' SubClassOf 'benign digestive system neoplasm' 'benign neoplasm of maxillary sinus' SubClassOf 'sensory organ benign neoplasm' 'benign neoplasm of maxillary sinus' EquivalentTo 'benign neoplasm' and ('disease has location' some 'maxillary sinus') '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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'iris') 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 'benign neoplasm of iris' 'benign neoplasm of ciliary body' EquivalentTo 'benign neoplasm' and ('disease has location' some 'ciliary body') 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 eyelid neoplasm' 'benign neoplasm of lacrimal gland' EquivalentTo 'benign neoplasm' and ('disease has location' some 'lacrimal gland') 'benign neoplasm of lacrimal gland' SubClassOf 'benign neoplasm of eye' 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'submandibular 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'endometrium') 'benign neoplasm of endometrium' SubClassOf 'uterine benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021472 benign neoplasm of scrotum 'benign neoplasm of scrotum' SubClassOf 'benign male reproductive system neoplasm' 'benign neoplasm of scrotum' EquivalentTo 'benign neoplasm' and ('disease has location' some 'scrotum') 'benign neoplasm of scrotum' SubClassOf 'scrotum 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 'sensory organ benign neoplasm' 'benign neoplasm of nasal cavity' EquivalentTo 'benign neoplasm' and ('disease has location' some 'nasal cavity') 'benign neoplasm of nasal cavity' SubClassOf 'respiratory system benign 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'nasopharynx') 'benign neoplasm of nasopharynx' SubClassOf 'benign neoplasm of pharynx' 'benign neoplasm of nasopharynx' SubClassOf 'nasopharyngeal 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'oropharynx') 'benign neoplasm of oropharynx' SubClassOf 'benign digestive system neoplasm' 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'minor 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'parotid 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'sublingual gland') '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_0021490 benign neoplasm of sebaceous gland 'benign neoplasm of sebaceous gland' EquivalentTo 'benign neoplasm' and ('disease has location' some 'sebaceous gland') '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 'benign digestive system neoplasm' 'benign neoplasm of gum' SubClassOf 'musculoskeletal system benign neoplasm' 'benign neoplasm of gum' EquivalentTo 'benign neoplasm' and ('disease has location' some 'gingiva') http://purl.obolibrary.org/obo/MONDO_0021492 benign neoplasm of major salivary gland 'benign neoplasm of major salivary gland' EquivalentTo 'benign neoplasm' and ('disease has location' some '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' http://purl.obolibrary.org/obo/GO_0009755 hormone-mediated signaling pathway 'hormone-mediated signaling pathway' SubClassOf 'signal transduction' http://purl.obolibrary.org/obo/GO_0034651 cortisol biosynthetic process 'cortisol biosynthetic process' SubClassOf 'steroid biosynthetic process' 'cortisol biosynthetic process' SubClassOf 'cellular biosynthetic process' http://purl.obolibrary.org/obo/UBERON_0002211 nerve root 'nerve root' SubClassOf 'part of' some 'nervous system' 'nerve root' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0002223 endolymphatic sac 'endolymphatic sac' SubClassOf 'epithelium' 'endolymphatic sac' SubClassOf 'part of' some 'sense organ' 'endolymphatic sac' SubClassOf 'part of' some 'internal ear' 'endolymphatic sac' SubClassOf 'part of' some 'ear' http://purl.obolibrary.org/obo/UBERON_0002224 thoracic cavity 'thoracic cavity' SubClassOf 'part of' some 'thoracic segment of trunk' 'thoracic cavity' SubClassOf 'anatomical entity' http://purl.obolibrary.org/obo/UBERON_0002279 vestibular aqueduct 'vestibular aqueduct' SubClassOf 'skeleton structure' 'vestibular aqueduct' SubClassOf 'part of' some 'bone element' 'vestibular aqueduct' SubClassOf 'part of' some 'skull' http://purl.obolibrary.org/obo/MONDO_0011913 Alzheimer disease 3 'Alzheimer disease 3' SubClassOf 'early-onset autosomal dominant Alzheimer disease' http://purl.obolibrary.org/obo/UBERON_0002293 costochondral joint 'costochondral joint' SubClassOf 'skeletal joint' 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 'structural congenital heart disease, multiple types - GATA4' http://purl.obolibrary.org/obo/UBERON_0002257 ventral horn of spinal cord 'ventral horn of spinal cord' SubClassOf 'part of' some 'spinal cord' 'ventral horn of spinal cord' SubClassOf 'anatomical structure' 'ventral horn of spinal cord' SubClassOf 'part of' some 'central nervous system' http://purl.obolibrary.org/obo/MONDO_0021315 malignant tumor of nasopharynx 'malignant tumor of nasopharynx' SubClassOf 'pharynx cancer' 'malignant tumor of nasopharynx' EquivalentTo 'cancer' and ('disease has location' some 'nasopharynx') 'malignant tumor of nasopharynx' SubClassOf 'nasopharyngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0021317 cancer of cerebellum 'cancer of cerebellum' EquivalentTo 'cancer' and ('disease has location' some 'cerebellum') 'cancer of cerebellum' SubClassOf 'brain cancer' 'cancer of cerebellum' SubClassOf 'cerebellar neoplasm' http://purl.obolibrary.org/obo/HP_0004566 Pear-shaped vertebrae 'Pear-shaped vertebrae' SubClassOf 'Abnormal form of the vertebral bodies' http://purl.obolibrary.org/obo/MONDO_0021333 carcinoma of lip 'carcinoma of lip' EquivalentTo 'carcinoma' and ('disease has location' some 'lip') 'carcinoma of lip' SubClassOf 'oral cavity carcinoma' 'carcinoma of lip' SubClassOf 'lip cancer' http://purl.obolibrary.org/obo/MONDO_0021380 neoplasm of myocardium 'neoplasm of myocardium' SubClassOf 'Heart neoplasm' 'neoplasm of myocardium' SubClassOf 'myocardial disorder' 'neoplasm of myocardium' EquivalentTo 'neoplasm' and ('disease has location' some 'myocardium') http://purl.obolibrary.org/obo/MONDO_0021372 neoplasm of temporal lobe 'neoplasm of temporal lobe' SubClassOf 'disease has location' some 'temporal lobe' 'neoplasm of temporal lobe' EquivalentTo 'neoplasm' and ('disease has location' some 'temporal lobe') 'neoplasm of temporal lobe' SubClassOf 'neoplasm of cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0021378 neoplasm of endocardium 'neoplasm of endocardium' EquivalentTo 'neoplasm' and ('disease has location' some 'endocardium') 'neoplasm of endocardium' SubClassOf 'endocardium disorder' 'neoplasm of endocardium' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0021379 neoplasm of epicardium 'neoplasm of epicardium' SubClassOf 'disease has location' some 'epicardium' 'neoplasm of epicardium' EquivalentTo 'neoplasm' and ('disease has location' some 'epicardium') 'neoplasm of epicardium' SubClassOf 'neoplasm of pericardium' 'neoplasm of epicardium' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0021394 polyp of vagina 'polyp of vagina' SubClassOf 'polyp' 'polyp of vagina' SubClassOf 'vaginal disorder' 'polyp of vagina' EquivalentTo 'polyp' and ('disease has location' some 'vagina') http://purl.obolibrary.org/obo/MONDO_0021390 polyp of ureter 'polyp of ureter' SubClassOf 'polyp' 'polyp of ureter' SubClassOf 'ureteral neoplasm' 'polyp of ureter' EquivalentTo 'polyp' and ('disease has location' some 'ureter') http://purl.obolibrary.org/obo/UBERON_0002104 visual system 'visual system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/MONDO_0011814 Smith-McCort dysplasia 1 'Smith-McCort dysplasia 1' SubClassOf 'Smith-McCort dysplasia' 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' http://purl.obolibrary.org/obo/UBERON_0002134 tricuspid valve 'tricuspid valve' SubClassOf 'part of' some 'right cardiac atrium' 'tricuspid valve' SubClassOf 'cardiac valve' http://purl.obolibrary.org/obo/MONDO_0011843 hypertrophic cardiomyopathy 25 'hypertrophic cardiomyopathy 25' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 25' SubClassOf 'familial dilated cardiomyopathy' 'hypertrophic cardiomyopathy 25' SubClassOf 'qualitative or quantitative defects of telethonin' http://purl.obolibrary.org/obo/UBERON_0002146 pulmonary valve 'pulmonary valve' SubClassOf 'cardiac valve' http://purl.obolibrary.org/obo/MONDO_0011857 atrial fibrillation, familial, 3 'atrial fibrillation, familial, 3' SubClassOf 'familial atrial fibrillation' http://purl.obolibrary.org/obo/MONDO_0011852 nonsyndromic congenital nail disorder 8 'nonsyndromic congenital nail disorder 8' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0021202 allergic otitis media 'allergic otitis media' SubClassOf 'Otitis media' 'allergic otitis media' SubClassOf 'allergic disease' 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' 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 'epilepsy, juvenile absence, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0021207 Crohn jejunitis 'Crohn jejunitis' SubClassOf 'small bowel Crohn's disease' 'Crohn jejunitis' EquivalentTo 'Crohn's disease' and ('disease has inflammation site' some 'jejunum') 'Crohn jejunitis' SubClassOf 'disease has inflammation site' some 'jejunum' http://purl.obolibrary.org/obo/MONDO_0011881 keratosis palmoplantaris striata 3 'keratosis palmoplantaris striata 3' SubClassOf 'striate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0021221 vestibulocochlear nerve neoplasm 'vestibulocochlear nerve neoplasm' SubClassOf 'vestibulocochlear nerve disorder' 'vestibulocochlear nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'vestibulocochlear nerve neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'vestibulocochlear nerve') 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' http://purl.obolibrary.org/obo/MONDO_0021235 external ear neoplasm 'external ear neoplasm' SubClassOf 'external ear disease' 'external ear neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'external ear') 'external ear neoplasm' SubClassOf 'ear neoplasm' 'external ear neoplasm' SubClassOf 'nervous system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021284 carcinoma in situ of ureter 'carcinoma in situ of ureter' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'ureter') 'carcinoma in situ of ureter' SubClassOf 'kidney carcinoma in situ' 'carcinoma in situ of ureter' SubClassOf 'Ureter Carcinoma' 'carcinoma in situ of ureter' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0021285 carcinoma in situ of urethra 'carcinoma in situ of urethra' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'urethra') 'carcinoma in situ of urethra' SubClassOf 'carcinoma of urethra' 'carcinoma in situ of urethra' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0021288 carcinoma in situ of hypopharynx 'carcinoma in situ of hypopharynx' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'hypopharynx') 'carcinoma in situ of hypopharynx' SubClassOf 'pharynx carcinoma in situ' 'carcinoma in situ of hypopharynx' SubClassOf 'hypopharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0021281 cavernous hemangioma of retina 'cavernous hemangioma of retina' SubClassOf 'Cavernous Hemangioma of the Face' 'cavernous hemangioma of retina' EquivalentTo 'Cavernous Hemangioma' and ('disease has location' some 'retina') 'cavernous hemangioma of retina' SubClassOf 'hemangioma of retina' http://purl.obolibrary.org/obo/MONDO_0021282 malignant teratoma of testis 'malignant teratoma of testis' SubClassOf 'malignant testicular germ cell tumor' 'malignant teratoma of testis' SubClassOf 'malignant teratoma' 'malignant teratoma of testis' EquivalentTo 'malignant teratoma' and ('disease has location' some 'testis') http://purl.obolibrary.org/obo/MONDO_0021283 malignant teratoma of mediastinum 'malignant teratoma of mediastinum' SubClassOf 'mediastinum teratoma' 'malignant teratoma of mediastinum' SubClassOf 'extragonadal nonseminomatous germ cell tumor' 'malignant teratoma of mediastinum' SubClassOf 'malignant teratoma' 'malignant teratoma of mediastinum' SubClassOf 'Mediastinal Malignant Germ Cell Tumor' 'malignant teratoma of mediastinum' EquivalentTo 'malignant teratoma' and ('disease has location' some 'mediastinum') http://purl.obolibrary.org/obo/MONDO_0021273 leiomyoma of ciliary body 'leiomyoma of ciliary body' SubClassOf 'leiomyoma' 'leiomyoma of ciliary body' EquivalentTo 'leiomyoma' and ('disease has location' some 'ciliary body') 'leiomyoma of ciliary body' SubClassOf 'benign neoplasm of ciliary body' http://purl.obolibrary.org/obo/MONDO_0021275 papilloma of eyelid 'papilloma of eyelid' SubClassOf 'skin papilloma' 'papilloma of eyelid' SubClassOf 'benign eyelid neoplasm' 'papilloma of eyelid' EquivalentTo 'papilloma' and ('disease has location' some 'eyelid') 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' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'renal pelvis') 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' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'nasopharynx') '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' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'oropharynx') 'carcinoma in situ of oropharynx' SubClassOf 'oropharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0021299 carcinoma in situ of extrahepatic bile duct 'carcinoma in situ of extrahepatic bile duct' SubClassOf 'extrahepatic bile duct carcinoma' 'carcinoma in situ of extrahepatic bile duct' SubClassOf 'bile duct carcinoma in situ' 'carcinoma in situ of extrahepatic bile duct' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'extrahepatic bile duct') http://purl.obolibrary.org/obo/MONDO_0021290 carcinoma in situ of appendix 'carcinoma in situ of appendix' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'vermiform appendix') 'carcinoma in situ of appendix' SubClassOf 'carcinoma in situ of cecum' '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' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'cardia of stomach') http://purl.obolibrary.org/obo/UBERON_0036214 rectosigmoid junction 'rectosigmoid junction' SubClassOf 'part of' some 'intestine' 'rectosigmoid junction' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0021097 intraductal breast papilloma 'intraductal breast papilloma' SubClassOf 'breast benign neoplasm' 'intraductal breast papilloma' EquivalentTo 'papilloma' and ('disease has location' some 'mammary duct') 'intraductal breast papilloma' SubClassOf 'disease has location' some 'mammary duct' 'intraductal breast papilloma' SubClassOf 'intraductal papilloma' 'intraductal breast papilloma' SubClassOf 'intraductal papillary breast neoplasm' http://purl.obolibrary.org/obo/MONDO_0045059 cribriform carcinoma of breast 'cribriform carcinoma of breast' SubClassOf 'breast carcinoma' 'cribriform carcinoma of breast' SubClassOf 'Cribriform 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 'cribriform carcinoma of breast' http://purl.obolibrary.org/obo/UBERON_0012287 Rathkes pouch epithelium 'Rathkes pouch epithelium' SubClassOf 'part of' some 'mucosa' 'Rathkes pouch epithelium' SubClassOf 'epithelium' 'Rathkes pouch epithelium' SubClassOf 'part of' some 'digestive tract' 'Rathkes pouch epithelium' SubClassOf 'digestive tract diverticulum' 'Rathkes pouch epithelium' SubClassOf 'part of' some 'mouth mucosa' http://purl.obolibrary.org/obo/HP_0004841 Reduced factor XII activity 'Reduced factor XII activity' SubClassOf 'Abnormality of coagulation' 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' http://purl.obolibrary.org/obo/UBERON_0036262 uterine ligament 'uterine ligament' EquivalentTo 'ligament' and ('part of' some 'uterine cervix') 'uterine ligament' SubClassOf 'part of' some 'uterine cervix' 'uterine ligament' SubClassOf 'part of' some 'reproductive system' 'uterine ligament' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0036263 supraglottic part of larynx 'supraglottic part of larynx' SubClassOf 'anatomical structure' 'supraglottic part of larynx' SubClassOf 'part of' some 'respiratory tract' 'supraglottic part of larynx' SubClassOf 'part of' some 'larynx' http://purl.obolibrary.org/obo/UBERON_0036266 pars interarticularis of vertebra 'pars interarticularis of vertebra' SubClassOf 'part of' some 'vertebra' 'pars interarticularis of vertebra' SubClassOf 'skeletal element' http://purl.obolibrary.org/obo/UBERON_0036267 vulval vein 'vulval vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0036268 pelvic vein 'pelvic vein' SubClassOf 'vein' http://purl.obolibrary.org/obo/UBERON_0036269 penis blood vessel 'penis blood vessel' SubClassOf 'blood vessel' 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' http://purl.obolibrary.org/obo/CHEBI_59560 sapropterin 'sapropterin' SubClassOf '5,6,7,8-tetrahydrobiopterin' http://purl.obolibrary.org/obo/MONDO_0011767 autosomal recessive nonsyndromic hearing loss 31 'autosomal recessive nonsyndromic hearing loss 31' SubClassOf 'hearing loss, autosomal recessive' 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' http://purl.obolibrary.org/obo/MONDO_0021104 alcoholic fatty liver disease 'alcoholic fatty liver disease' SubClassOf 'fatty liver disease' 'alcoholic fatty liver disease' SubClassOf 'alcoholic liver disease' 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 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0021112 scrotum cancer 'scrotum cancer' SubClassOf 'scrotum neoplasm' 'scrotum cancer' SubClassOf 'male reproductive organ cancer' 'scrotum cancer' EquivalentTo 'cancer' and ('disease has location' some 'scrotum') http://purl.obolibrary.org/obo/MONDO_0021131 frontal lobe ependymal tumor 'frontal lobe ependymal tumor' EquivalentTo 'ependymal neoplasm' and ('disease has location' some 'frontal lobe') 'frontal lobe ependymal tumor' SubClassOf 'cerebral hemisphere cancer' 'frontal lobe ependymal tumor' SubClassOf 'frontal lobe neoplasm' 'frontal lobe ependymal tumor' SubClassOf 'ependymal tumor of brain' http://purl.obolibrary.org/obo/MONDO_0021160 gonococcal cystitis 'gonococcal cystitis' SubClassOf 'gonorrhea' 'gonococcal cystitis' SubClassOf 'cystitis' 'gonococcal cystitis' SubClassOf 'bacterial urinary tract infection' http://purl.obolibrary.org/obo/MONDO_0021161 gonococcal prostatitis 'gonococcal prostatitis' SubClassOf 'gonorrhea' 'gonococcal prostatitis' SubClassOf 'prostatitis' http://purl.obolibrary.org/obo/MONDO_0021156 hypophysitis 'hypophysitis' SubClassOf 'encephalomyelitis' 'hypophysitis' SubClassOf 'pituitary gland disease' 'hypophysitis' SubClassOf 'disease has inflammation site' some 'pituitary gland' 'hypophysitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'pituitary gland') http://purl.obolibrary.org/obo/MONDO_0021157 gonococcal cervicitis 'gonococcal cervicitis' SubClassOf 'inflammatory disease' 'gonococcal cervicitis' SubClassOf 'cervicitis' 'gonococcal cervicitis' SubClassOf 'disease has inflammation site' some 'uterine cervix' 'gonococcal cervicitis' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/MONDO_0021159 gonococcal salpingitis 'gonococcal salpingitis' SubClassOf 'salpingitis' 'gonococcal salpingitis' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/MONDO_0021175 herpetic vulvovaginitis 'herpetic vulvovaginitis' SubClassOf 'Varicella Zoster infection' 'herpetic vulvovaginitis' SubClassOf 'infective vaginitis' 'herpetic vulvovaginitis' SubClassOf 'vulvovaginitis' http://purl.obolibrary.org/obo/MONDO_0060782 premalignant hematological system disease 'premalignant hematological system disease' SubClassOf 'precancerous condition' 'premalignant hematological system disease' SubClassOf 'hematologic disease' 'premalignant hematological system disease' EquivalentTo 'precancerous condition' and ('disease has location' some 'hematopoietic system') http://purl.obolibrary.org/obo/MONDO_0060774 vaginal fibroepithelial polyp 'vaginal fibroepithelial polyp' SubClassOf 'polyp of vagina' 'vaginal fibroepithelial polyp' EquivalentTo 'fibroepithelial polyp' and ('disease has location' some 'vagina') 'vaginal fibroepithelial polyp' SubClassOf 'fibroepithelial polyp' http://purl.obolibrary.org/obo/MONDO_0060777 cervical fibroepithelial polyp 'cervical fibroepithelial polyp' EquivalentTo 'fibroepithelial polyp' and ('disease has location' some 'uterine cervix') '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' http://purl.obolibrary.org/obo/GO_0009450 gamma-aminobutyric acid catabolic process 'gamma-aminobutyric acid catabolic process' SubClassOf 'organic acid metabolic process' 'gamma-aminobutyric acid catabolic process' SubClassOf 'organonitrogen compound metabolic process' 'gamma-aminobutyric acid catabolic process' SubClassOf 'amino acid metabolic process' http://purl.obolibrary.org/obo/MONDO_0060768 gingival fibroepithelial polyp 'gingival fibroepithelial polyp' SubClassOf 'epulis' 'gingival fibroepithelial polyp' EquivalentTo 'fibroepithelial polyp' and ('disease has location' some 'gingiva') 'gingival fibroepithelial polyp' SubClassOf 'fibroepithelial polyp' http://purl.obolibrary.org/obo/HP_0004789 Lactose intolerance 'Lactose intolerance' SubClassOf 'Malabsorption' http://purl.obolibrary.org/obo/MONDO_0800453 juvenile absence epilepsy 'juvenile absence epilepsy' SubClassOf 'hereditary neurological disease' 'juvenile absence epilepsy' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' 'juvenile absence epilepsy' SubClassOf 'adolescent/adult-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0021048 benign mastocytoma 'benign mastocytoma' SubClassOf 'benign neoplasm' 'benign mastocytoma' SubClassOf 'mastocytoma' 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 'eyelid disease' 'herpes zoster with dermatitis of eyelid' SubClassOf 'viral eye infection' 'herpes zoster with dermatitis of eyelid' EquivalentTo 'herpes zoster dermatitis' and ('disease has location' some 'eyelid') http://purl.obolibrary.org/obo/MONDO_0021033 herpes zoster dermatitis 'herpes zoster dermatitis' SubClassOf 'Varicella Zoster infection' 'herpes zoster dermatitis' SubClassOf 'skin infection' http://purl.obolibrary.org/obo/MONDO_0045047 neurosarcoidosis 'neurosarcoidosis' SubClassOf 'nervous system disease' 'neurosarcoidosis' EquivalentTo 'sarcoidosis' and ('disease has location' some 'nervous system') 'neurosarcoidosis' SubClassOf 'sarcoidosis' http://purl.obolibrary.org/obo/GO_0009311 oligosaccharide metabolic process 'oligosaccharide metabolic process' SubClassOf 'carbohydrate metabolic process' 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' EquivalentTo 'carcinoma' and ('disease has location' some 'sublingual gland') http://purl.obolibrary.org/obo/GO_0010259 obsolete multicellular organism aging 'obsolete multicellular organism aging' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011535 split hand-foot malformation 4 'split hand-foot malformation 4' SubClassOf 'split hand-foot malformation' http://purl.obolibrary.org/obo/MONDO_0011596 dermatitis, atopic, 2 'dermatitis, atopic, 2' SubClassOf 'dermatitis, atopic, susceptibility to' http://purl.obolibrary.org/obo/GO_0009100 glycoprotein metabolic process 'glycoprotein metabolic process' SubClassOf 'carbohydrate derivative metabolic process' 'glycoprotein metabolic process' SubClassOf 'protein metabolic process' http://purl.obolibrary.org/obo/GO_0009107 lipoate biosynthetic process 'lipoate biosynthetic process' SubClassOf 'organic cyclic compound biosynthetic process' 'lipoate biosynthetic process' SubClassOf 'fatty acid metabolic process' 'lipoate biosynthetic process' SubClassOf 'sulfur compound metabolic process' 'lipoate biosynthetic process' SubClassOf 'heterocycle biosynthetic process' http://purl.obolibrary.org/obo/UBERON_0002517 basicranium 'basicranium' SubClassOf 'part of' some 'anatomical system' 'basicranium' SubClassOf 'skeleton structure' 'basicranium' SubClassOf 'part of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0002515 periosteum 'periosteum' SubClassOf 'skeleton structure' 'periosteum' SubClassOf 'part of' some 'bone element' http://purl.obolibrary.org/obo/GO_0034101 erythrocyte homeostasis 'erythrocyte homeostasis' SubClassOf 'homeostatic process' 'erythrocyte homeostasis' SubClassOf 'multicellular organismal process' 'erythrocyte homeostasis' SubClassOf 'immune system process' http://purl.obolibrary.org/obo/MONDO_0011456 nephronophthisis 3 'nephronophthisis 3' SubClassOf 'nephronophthisis' 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' http://purl.obolibrary.org/obo/GO_0000781 chromosome, telomeric region 'chromosome, telomeric region' SubClassOf 'cellular_component' http://purl.obolibrary.org/obo/GO_0009066 aspartate family amino acid metabolic process 'aspartate family amino acid metabolic process' SubClassOf 'amino acid metabolic process' 'aspartate family amino acid metabolic process' SubClassOf 'organic acid metabolic process' 'aspartate family amino acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/GO_0009069 serine family amino acid metabolic process 'serine family amino acid metabolic process' SubClassOf 'organic acid metabolic process' 'serine family amino acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'serine family amino acid metabolic process' SubClassOf 'amino acid metabolic process' http://purl.obolibrary.org/obo/GO_0009081 branched-chain amino acid metabolic process 'branched-chain amino acid metabolic process' SubClassOf 'organic acid metabolic process' 'branched-chain amino acid metabolic process' SubClassOf 'amino acid metabolic process' 'branched-chain amino acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0016129 eosinophilic gastroenteritis 'eosinophilic gastroenteritis' SubClassOf 'eosinophilic gastrointestinal disease' 'eosinophilic gastroenteritis' SubClassOf 'gastroenteritis' 'eosinophilic gastroenteritis' EquivalentTo 'eosinophilic gastrointestinal disease' and ('disease has inflammation site' some 'intestine') http://purl.obolibrary.org/obo/GO_0009087 methionine catabolic process 'methionine catabolic process' SubClassOf 'sulfur amino acid metabolic process' 'methionine catabolic process' SubClassOf 'aspartate family amino acid metabolic process' http://purl.obolibrary.org/obo/MONDO_0016126 viral myositis 'viral myositis' SubClassOf 'viral disease' 'viral myositis' SubClassOf 'myositis' http://purl.obolibrary.org/obo/MONDO_0016130 fungal myositis 'fungal myositis' SubClassOf 'fungal infectious disease' 'fungal myositis' SubClassOf 'myositis' http://purl.obolibrary.org/obo/HP_0000006 Autosomal dominant inheritance 'Autosomal dominant inheritance' SubClassOf 'Mode of inheritance' http://purl.obolibrary.org/obo/HP_0000007 Autosomal recessive inheritance 'Autosomal recessive inheritance' SubClassOf 'Mode of inheritance' http://purl.obolibrary.org/obo/HP_0000027 Azoospermia 'Azoospermia' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/HP_0000037 Male pseudohermaphroditism 'Male pseudohermaphroditism' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/GO_0048598 embryonic morphogenesis 'embryonic morphogenesis' SubClassOf 'developmental process' http://purl.obolibrary.org/obo/MONDO_0016094 vaginal germ cell malignant tumor 'vaginal germ cell malignant tumor' EquivalentTo 'Malignant Germ Cell Tumor' and ('disease has location' some 'vagina') 'vaginal germ cell malignant tumor' SubClassOf 'Malignant Germ Cell Tumor' 'vaginal germ cell malignant tumor' SubClassOf 'vaginal cancer' http://purl.obolibrary.org/obo/MONDO_0016095 vaginal rhabdomyosarcoma 'vaginal rhabdomyosarcoma' SubClassOf 'vagina sarcoma' 'vaginal rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'vaginal rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'vagina') http://purl.obolibrary.org/obo/HP_0000230 Gingivitis 'Gingivitis' SubClassOf 'Abnormality of the mouth' http://purl.obolibrary.org/obo/CL_0008019 mesenchymal cell 'mesenchymal cell' SubClassOf 'cell' http://purl.obolibrary.org/obo/HP_0000297 Facial hypotonia 'Facial hypotonia' SubClassOf 'Hypotonia' 'Facial hypotonia' SubClassOf 'Abnormal skeletal muscle morphology' 'Facial hypotonia' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/HP_0000243 Trigonocephaly 'Trigonocephaly' SubClassOf 'Abnormal calvaria morphology' http://purl.obolibrary.org/obo/HP_0000113 Polycystic kidney dysplasia 'Polycystic kidney dysplasia' SubClassOf 'Renal cyst' http://purl.obolibrary.org/obo/UBERON_0012320 cervical artery 'cervical artery' SubClassOf 'artery' 'cervical artery' SubClassOf 'part of' some 'neck' 'cervical artery' EquivalentTo 'artery' and ('part of' some 'neck') http://purl.obolibrary.org/obo/UBERON_0036301 vasculature of spleen 'vasculature of spleen' SubClassOf 'part of' some 'trunk' 'vasculature of spleen' SubClassOf 'part of' some 'spleen' 'vasculature of spleen' EquivalentTo 'vasculature' and ('part of' some 'spleen') 'vasculature of spleen' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/UBERON_0012314 embryonic facial prominence 'embryonic facial prominence' SubClassOf 'part of' some 'embryo' 'embryonic facial prominence' SubClassOf 'part of' some 'head' 'embryonic facial prominence' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0012332 broad ligament of uterus 'broad ligament of uterus' SubClassOf 'ligament' http://purl.obolibrary.org/obo/UBERON_0012337 cauda equina 'cauda equina' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/HP_0000099 Glomerulonephritis 'Glomerulonephritis' SubClassOf 'Abnormal renal cortex morphology' 'Glomerulonephritis' SubClassOf 'Abnormal renal physiology' 'Glomerulonephritis' SubClassOf 'Increased inflammatory response' http://purl.obolibrary.org/obo/HP_0000096 Glomerular sclerosis 'Glomerular sclerosis' SubClassOf 'Abnormal renal cortex morphology' http://purl.obolibrary.org/obo/HP_0000090 Nephronophthisis 'Nephronophthisis' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/UBERON_0012429 hematopoietic tissue 'hematopoietic tissue' SubClassOf 'part of' some 'hematopoietic system' 'hematopoietic tissue' SubClassOf 'lymphomyeloid tissue' http://purl.obolibrary.org/obo/HP_0000458 Anosmia 'Anosmia' SubClassOf 'Abnormality of the sense of smell' http://purl.obolibrary.org/obo/MONDO_0021948 cutaneous tuberculosis 'cutaneous tuberculosis' SubClassOf 'skin disease caused by bacterial infection' 'cutaneous tuberculosis' SubClassOf 'extrapulmonary tuberculosis' 'cutaneous tuberculosis' EquivalentTo 'tuberculosis' and ('disease has location' some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0021960 ureteritis 'ureteritis' SubClassOf 'kidney disease' 'ureteritis' SubClassOf 'inflammatory disease' 'ureteritis' SubClassOf 'disease has inflammation site' some 'ureter' 'ureteritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'ureter') 'ureteritis' SubClassOf 'ureteral disorder' http://purl.obolibrary.org/obo/MONDO_0021950 autoimmune oophoritis 'autoimmune oophoritis' EquivalentTo 'oophoritis' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune oophoritis' SubClassOf 'oophoritis' 'autoimmune oophoritis' SubClassOf 'autoimmune disorder of endocrine system' http://purl.obolibrary.org/obo/HP_0000499 Abnormal eyelash morphology 'Abnormal eyelash morphology' SubClassOf 'Abnormality of the face' 'Abnormal eyelash morphology' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/HP_0000491 Keratitis 'Keratitis' SubClassOf 'Abnormal cornea morphology' 'Keratitis' SubClassOf 'Increased inflammatory response' http://purl.obolibrary.org/obo/MONDO_0006361 obsolete penile fibromatosis 'obsolete penile fibromatosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/GO_0000224 peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity 'peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/HP_0000365 Hearing impairment 'Hearing impairment' SubClassOf 'Hearing abnormality' http://purl.obolibrary.org/obo/GO_0000096 sulfur amino acid metabolic process 'sulfur amino acid metabolic process' SubClassOf 'organic acid metabolic process' 'sulfur amino acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'sulfur amino acid metabolic process' SubClassOf 'sulfur compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0006267 liver cavernous hemangioma 'liver cavernous hemangioma' SubClassOf 'liver hemangioma' 'liver cavernous hemangioma' EquivalentTo 'Cavernous Hemangioma' and ('disease has location' some 'liver') 'liver cavernous hemangioma' SubClassOf 'Cavernous Hemangioma' http://purl.obolibrary.org/obo/HP_0000648 Optic atrophy 'Optic atrophy' SubClassOf 'Abnormal posterior eye segment morphology' http://purl.obolibrary.org/obo/HP_0000646 Amblyopia 'Amblyopia' SubClassOf 'Reduced visual acuity' http://purl.obolibrary.org/obo/HP_0000657 Oculomotor apraxia 'Oculomotor apraxia' SubClassOf 'Abnormality of the eye' 'Oculomotor apraxia' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/HP_0000668 Hypodontia 'Hypodontia' SubClassOf 'Tooth agenesis' http://purl.obolibrary.org/obo/MONDO_0021726 abdominal cystic lymphangioma 'abdominal cystic lymphangioma' SubClassOf 'cystic lymphangioma' 'abdominal cystic lymphangioma' EquivalentTo 'cystic lymphangioma' and ('disease has location' some 'abdomen') 'abdominal cystic lymphangioma' SubClassOf 'disease has location' some 'abdomen' http://purl.obolibrary.org/obo/MONDO_0021736 proctosigmoiditis 'proctosigmoiditis' SubClassOf 'disease has inflammation site' some 'rectum' 'proctosigmoiditis' SubClassOf 'disease has inflammation site' some 'sigmoid colon' 'proctosigmoiditis' SubClassOf 'proctocolitis' 'proctosigmoiditis' EquivalentTo 'disease' and ('disease has inflammation site' some 'rectum') and ('disease has inflammation site' some 'sigmoid colon') http://purl.obolibrary.org/obo/HP_0009064 Generalized lipodystrophy 'Generalized lipodystrophy' SubClassOf 'Lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0021783 streptococcal sore throat 'streptococcal sore throat' SubClassOf 'pharyngitis' 'streptococcal sore throat' SubClassOf 'streptococcal infection' 'streptococcal sore throat' SubClassOf 'respiratory tract infectious disorder' http://purl.obolibrary.org/obo/GO_0000050 urea cycle 'urea cycle' SubClassOf 'organonitrogen compound biosynthetic process' 'urea cycle' SubClassOf 'cellular nitrogen compound biosynthetic process' http://purl.obolibrary.org/obo/GO_0000002 mitochondrial genome maintenance 'mitochondrial genome maintenance' SubClassOf 'organelle organization' http://purl.obolibrary.org/obo/HP_0000608 Macular degeneration 'Macular degeneration' SubClassOf 'Abnormal macular morphology' http://purl.obolibrary.org/obo/HP_0000613 Photophobia 'Photophobia' SubClassOf 'Atypical behavior' 'Photophobia' SubClassOf 'Abnormality of vision' http://purl.obolibrary.org/obo/HP_0000556 Retinal dystrophy 'Retinal dystrophy' SubClassOf 'Abnormal retinal morphology' http://purl.obolibrary.org/obo/HP_0000518 Cataract 'Cataract' SubClassOf 'Abnormal lens morphology' http://purl.obolibrary.org/obo/HP_0000526 Aniridia 'Aniridia' SubClassOf 'Ocular anterior segment dysgenesis' http://purl.obolibrary.org/obo/HP_0000534 Abnormal eyebrow morphology 'Abnormal eyebrow morphology' SubClassOf 'Abnormality of the face' 'Abnormal eyebrow morphology' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/HP_0000554 Uveitis 'Uveitis' SubClassOf 'Increased inflammatory response' 'Uveitis' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/MONDO_0021607 eyelid seborrheic keratosis 'eyelid seborrheic keratosis' SubClassOf 'eyelid disease' 'eyelid seborrheic keratosis' SubClassOf 'seborrheic keratosis' 'eyelid seborrheic keratosis' EquivalentTo 'seborrheic keratosis' and ('disease has location' some 'eyelid') http://purl.obolibrary.org/obo/MONDO_0021627 eyelid capillary hemangioma 'eyelid capillary hemangioma' SubClassOf 'capillary hemangioma' 'eyelid capillary hemangioma' SubClassOf 'skin hemangioma' 'eyelid capillary hemangioma' EquivalentTo 'capillary hemangioma' and ('disease has location' some 'eyelid') 'eyelid capillary hemangioma' SubClassOf 'neurovascular disorder' 'eyelid capillary hemangioma' SubClassOf 'benign eyelid neoplasm' http://purl.obolibrary.org/obo/MONDO_0021642 vulval varices 'vulval varices' EquivalentTo 'varicose disease' and ('disease has location' some 'mammalian vulva') 'vulval varices' SubClassOf 'female reproductive system disease' 'vulval varices' SubClassOf 'disease has location' some 'mammalian vulva' 'vulval varices' SubClassOf 'pelvic varices' 'vulval varices' SubClassOf 'disease has basis in dysfunction of' some 'vulval vein' http://purl.obolibrary.org/obo/MONDO_0021630 lipoma of face 'lipoma of face' EquivalentTo 'lipoma' and ('disease has location' some 'face') 'lipoma of face' SubClassOf 'disease has location' some 'face' 'lipoma of face' SubClassOf 'head and neck neoplasia' 'lipoma of face' SubClassOf 'lipoma' 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' EquivalentTo 'neuroendocrine neoplasm' and ('disease has location' some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0031014 autoimmune gastritis 'autoimmune gastritis' SubClassOf 'autoimmune disorder of gastrointestinal tract' 'autoimmune gastritis' EquivalentTo 'gastritis' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune gastritis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0031012 autoimmune uveitis 'autoimmune uveitis' EquivalentTo 'uveitis' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune uveitis' SubClassOf 'autoimmune disease of ear, nose and throat' 'autoimmune uveitis' SubClassOf 'uveitis' http://purl.obolibrary.org/obo/MONDO_0031013 autoimmune optic neuritis 'autoimmune optic neuritis' SubClassOf 'neuroinflammatory disorder' 'autoimmune optic neuritis' EquivalentTo 'optic neuritis' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune optic neuritis' SubClassOf 'autoimmune disorder of peripheral nervous system' 'autoimmune optic neuritis' SubClassOf 'optic neuritis' http://purl.obolibrary.org/obo/HP_0000509 Conjunctivitis 'Conjunctivitis' SubClassOf 'Abnormality of the eye' 'Conjunctivitis' SubClassOf 'Abnormality of the face' 'Conjunctivitis' SubClassOf 'Increased inflammatory response' 'Conjunctivitis' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/MONDO_0002343 splenic hemangioma 'splenic hemangioma' SubClassOf 'intra-abdominal hemangioma' 'splenic hemangioma' EquivalentTo 'hemangioma' and ('disease has location' some 'spleen') 'splenic hemangioma' SubClassOf 'benign neoplasm of spleen' http://purl.obolibrary.org/obo/MONDO_0002365 kidney hemangiopericytoma 'kidney hemangiopericytoma' EquivalentTo 'hemangiopericytoma' and ('disease has location' some 'kidney') 'kidney hemangiopericytoma' SubClassOf 'kidney neoplasm' 'kidney hemangiopericytoma' SubClassOf 'hemangiopericytoma' http://purl.obolibrary.org/obo/MONDO_0002379 cystic teratoma 'cystic teratoma' SubClassOf 'teratoma' http://purl.obolibrary.org/obo/MONDO_0002373 benign mesothelioma 'benign mesothelioma' SubClassOf 'mesothelioma' 'benign mesothelioma' SubClassOf 'benign neoplasm' 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' EquivalentTo 'angiosarcoma' and ('disease has location' some 'liver') http://purl.obolibrary.org/obo/MONDO_0002382 benign mesenchymoma 'benign mesenchymoma' SubClassOf 'mesenchymoma' 'benign mesenchymoma' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/UBERON_0006072 cervical region of vertebral column 'cervical region of vertebral column' SubClassOf 'skeleton structure' 'cervical region of vertebral column' SubClassOf 'part of' some 'skeletal system' 'cervical region of vertebral column' SubClassOf 'part of' some 'vertebral column' 'cervical region of vertebral column' SubClassOf 'part of' some 'anatomical system' 'cervical region of vertebral column' SubClassOf 'part of' some 'postcranial axial skeleton' 'cervical region of vertebral column' SubClassOf 'part of' some 'dorsum' http://purl.obolibrary.org/obo/HP_0000843 Hyperparathyroidism 'Hyperparathyroidism' SubClassOf 'Abnormality of the endocrine system' 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' http://purl.obolibrary.org/obo/MONDO_0002403 synovium cancer 'synovium cancer' SubClassOf 'synovium neoplasm' 'synovium cancer' SubClassOf 'musculoskeletal system cancer' 'synovium cancer' EquivalentTo 'cancer' and ('disease has location' some 'synovial membrane of synovial joint') http://purl.obolibrary.org/obo/HP_0000853 Goiter 'Goiter' SubClassOf 'Abnormality of the thyroid gland' http://purl.obolibrary.org/obo/HP_0000855 Insulin resistance 'Insulin resistance' SubClassOf 'Abnormal glucose homeostasis' http://purl.obolibrary.org/obo/MONDO_0002414 gastric hemangioma 'gastric hemangioma' EquivalentTo 'hemangioma' and ('disease has location' some 'stomach') 'gastric hemangioma' SubClassOf 'intra-abdominal hemangioma' 'gastric hemangioma' SubClassOf 'benign neoplasm of stomach' http://purl.obolibrary.org/obo/HP_0000870 Increased circulating prolactin concentration 'Increased circulating prolactin concentration' SubClassOf 'Hyperpituitarism' http://purl.obolibrary.org/obo/MONDO_0002418 ethmoid sinus adenocarcinoma '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' http://purl.obolibrary.org/obo/MONDO_0002424 rectosigmoid carcinoma 'rectosigmoid carcinoma' SubClassOf 'rectosigmoid junction cancer' 'rectosigmoid carcinoma' SubClassOf 'rectal carcinoma' 'rectosigmoid carcinoma' SubClassOf 'colon carcinoma' 'rectosigmoid carcinoma' EquivalentTo 'carcinoma' and ('disease has location' some 'rectosigmoid junction') 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' EquivalentTo 'cancer' and ('disease has location' some 'rectosigmoid junction') 'rectosigmoid junction cancer' SubClassOf 'rectosigmoid junction neoplasm' http://purl.obolibrary.org/obo/MONDO_0002434 oculomotor nerve cancer 'oculomotor nerve cancer' SubClassOf 'cranial nerve malignant neoplasm' 'oculomotor nerve cancer' EquivalentTo 'cancer' and ('disease has location' some 'oculomotor nerve') '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' EquivalentTo 'neoplasm' and ('disease has location' some 'oculomotor nerve') 'oculomotor nerve neoplasm' SubClassOf 'third cranial nerve disorder' 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' EquivalentTo 'cancer' and ('disease has location' some 'vestibulocochlear nerve') http://purl.obolibrary.org/obo/MONDO_0002448 laryngeal sarcoma 'laryngeal sarcoma' SubClassOf 'Malignant Laryngeal Neoplasm' 'laryngeal sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'larynx') 'laryngeal sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/HP_0000819 Diabetes mellitus 'Diabetes mellitus' SubClassOf 'Abnormality of the endocrine system' 'Diabetes mellitus' SubClassOf 'Glucose intolerance' http://purl.obolibrary.org/obo/MONDO_0002452 prostate leiomyoma 'prostate leiomyoma' SubClassOf 'benign neoplasm of prostate' 'prostate leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'prostate gland') 'prostate leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/HP_0000829 Hypoparathyroidism 'Hypoparathyroidism' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/MONDO_0002451 benign prostate phyllodes tumor 'benign prostate phyllodes tumor' SubClassOf 'benign urinary system neoplasm' '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/HP_0000822 Hypertension 'Hypertension' SubClassOf 'Increased blood pressure' http://purl.obolibrary.org/obo/HP_0000830 Anterior hypopituitarism 'Anterior hypopituitarism' SubClassOf 'Abnormal brain morphology' 'Anterior hypopituitarism' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/MONDO_0002226 tuberculous oophoritis 'tuberculous oophoritis' SubClassOf 'urogenital tuberculosis' 'tuberculous oophoritis' EquivalentTo 'tuberculosis' and ('disease has inflammation site' some 'ovary') 'tuberculous oophoritis' SubClassOf 'oophoritis' http://purl.obolibrary.org/obo/MONDO_0002227 ovarian lymphoma 'ovarian lymphoma' SubClassOf 'ovarian cancer' 'ovarian lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'ovary') 'ovarian lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0002221 urethral urothelial papilloma 'urethral urothelial papilloma' SubClassOf 'benign urethral neoplasm' 'urethral urothelial papilloma' EquivalentTo 'urothelial papilloma' and ('disease has location' some 'urethra') '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' EquivalentTo 'leiomyoma' and ('disease has location' some 'urethra') 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' http://purl.obolibrary.org/obo/MONDO_0002238 ascending colon cancer 'ascending colon cancer' SubClassOf 'disease has location' some 'ascending colon' 'ascending colon cancer' EquivalentTo 'cancer' and ('disease has location' some 'ascending colon') 'ascending colon cancer' SubClassOf 'malignant colon neoplasm' 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' http://purl.obolibrary.org/obo/MONDO_0002240 acute perichondritis of pinna 'acute perichondritis of pinna' SubClassOf 'perichondritis of auricle' 'acute perichondritis of pinna' SubClassOf 'acute otitis externa' http://purl.obolibrary.org/obo/MONDO_0002266 malt worker's lung 'malt worker's lung' SubClassOf 'hypersensitivity pneumonitis' 'malt worker's lung' SubClassOf 'allergic bronchopulmonary aspergillosis' 'malt worker's lung' SubClassOf 'pulmonary aspergillosis' http://purl.obolibrary.org/obo/MONDO_0002262 capillary lymphangioma 'capillary lymphangioma' SubClassOf 'capillary disorder' 'capillary lymphangioma' SubClassOf 'lymphangioma' 'capillary lymphangioma' EquivalentTo 'lymphangioma' and ('disease has location' some 'capillary') 'capillary lymphangioma' SubClassOf 'benign blood vessel neoplasm' http://purl.obolibrary.org/obo/MONDO_0041879 staphylococcus aureus pneumonia 'staphylococcus aureus pneumonia' SubClassOf 'staphylococcal pneumonia' 'staphylococcus aureus pneumonia' SubClassOf 'Staphylococcus aureus infection' http://purl.obolibrary.org/obo/MONDO_0002270 viral gastritis 'viral gastritis' SubClassOf 'gastritis' 'viral gastritis' SubClassOf 'digestive system infectious disorder' 'viral gastritis' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/HP_0000777 Abnormal thymus morphology 'Abnormal thymus morphology' SubClassOf 'Abnormality of the lymphatic system' 'Abnormal thymus morphology' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/HP_0009125 Lipodystrophy 'Lipodystrophy' SubClassOf 'Abnormal adipose tissue morphology' http://purl.obolibrary.org/obo/MONDO_0002295 skin glomus tumor 'skin glomus tumor' EquivalentTo 'glomus tumor' and ('disease has location' some 'zone of skin') 'skin glomus tumor' SubClassOf 'glomus tumor' 'skin glomus tumor' SubClassOf 'dermis tumor' http://purl.obolibrary.org/obo/MONDO_0002291 cutaneous granular cell tumor 'cutaneous granular cell tumor' EquivalentTo 'Granular Cell Tumor' and ('disease has location' some 'zone of skin') 'cutaneous granular cell tumor' SubClassOf 'Granular Cell Tumor' 'cutaneous granular cell tumor' SubClassOf 'dermis tumor' http://purl.obolibrary.org/obo/HP_0000789 Infertility 'Infertility' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/GO_0004972 NMDA glutamate receptor activity 'NMDA glutamate receptor activity' SubClassOf 'amino acid transmembrane transporter activity' 'NMDA glutamate receptor activity' SubClassOf 'signaling receptor activity' http://purl.obolibrary.org/obo/HP_0000717 Autism 'Autism' SubClassOf 'Autistic behavior' http://purl.obolibrary.org/obo/HP_0000729 Autistic behavior 'Autistic behavior' SubClassOf 'Atypical behavior' http://purl.obolibrary.org/obo/HP_0000726 Dementia 'Dementia' SubClassOf 'Mental deterioration' http://purl.obolibrary.org/obo/HP_0000739 Anxiety 'Anxiety' SubClassOf 'Abnormality of mental function' http://purl.obolibrary.org/obo/HP_0000741 Apathy 'Apathy' SubClassOf 'Atypical behavior' http://purl.obolibrary.org/obo/HP_0000752 Hyperactivity 'Hyperactivity' SubClassOf 'Atypical behavior' http://purl.obolibrary.org/obo/MONDO_0002307 blepharoconjunctivitis 'blepharoconjunctivitis' SubClassOf 'blepharitis' 'blepharoconjunctivitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'eyelid') and ('disease has inflammation site' some 'conjunctiva') 'blepharoconjunctivitis' SubClassOf 'conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0002318 trachea leiomyoma 'trachea leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'trachea') 'trachea leiomyoma' SubClassOf 'leiomyoma' 'trachea leiomyoma' SubClassOf 'benign neoplasm of trachea' http://purl.obolibrary.org/obo/MONDO_0002333 splenic abscess 'splenic abscess' EquivalentTo 'abscess' and ('disease has location' some 'spleen') 'splenic abscess' SubClassOf 'abscess' 'splenic abscess' SubClassOf 'splenic disease' http://purl.obolibrary.org/obo/MONDO_0041903 gonococcal infection of joint 'gonococcal infection of joint' SubClassOf 'gonorrhea' 'gonococcal infection of joint' SubClassOf 'infectious arthritis' http://purl.obolibrary.org/obo/MONDO_0002101 facial nerve neoplasm 'facial nerve neoplasm' SubClassOf 'facial nerve disease' 'facial nerve neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'facial nerve') 'facial nerve neoplasm' SubClassOf 'cranial nerve neoplasm' http://purl.obolibrary.org/obo/MONDO_0016740 choriocarcinoma of the central nervous system 'choriocarcinoma of the central nervous system' SubClassOf 'reproductive 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' 'choriocarcinoma of the central nervous system' EquivalentTo 'choriocarcinoma' and ('disease has location' some 'central nervous system') 'choriocarcinoma of the central nervous system' SubClassOf 'central nervous system nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0002117 pancreas sarcoma 'pancreas sarcoma' SubClassOf 'soft tissue sarcoma' 'pancreas sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'pancreas') 'pancreas sarcoma' SubClassOf 'Malignant Pancreatic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0002112 benign peritoneal mesothelioma 'benign peritoneal mesothelioma' EquivalentTo 'benign mesothelioma' and ('disease has location' some 'peritoneum') 'benign peritoneal mesothelioma' SubClassOf 'Peritoneal Mesothelioma' 'benign peritoneal mesothelioma' SubClassOf 'benign mesothelioma' 'benign peritoneal mesothelioma' SubClassOf 'peritoneal benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002114 pancreas lymphoma 'pancreas lymphoma' SubClassOf 'Malignant Pancreatic Neoplasm' 'pancreas lymphoma' SubClassOf 'gastrointestinal lymphoma' 'pancreas lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'pancreas') http://purl.obolibrary.org/obo/MONDO_0016751 malignant perineurioma 'malignant perineurioma' SubClassOf 'perineurioma' 'malignant perineurioma' SubClassOf 'peripheral nervous system cancer' 'malignant perineurioma' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/CHEBI_25195 mercury atom 'mercury atom' SubClassOf 'atom' http://purl.obolibrary.org/obo/MONDO_0002137 noninfectious dermatoses of eyelid 'noninfectious dermatoses of eyelid' SubClassOf 'blepharitis' http://purl.obolibrary.org/obo/MONDO_0002138 allergic contact dermatitis of eyelid 'allergic contact dermatitis of eyelid' SubClassOf 'eye allergy' 'allergic contact dermatitis of eyelid' SubClassOf 'noninfectious dermatoses of eyelid' 'allergic contact dermatitis of eyelid' EquivalentTo 'allergic contact dermatitis' and ('disease has location' some 'eyelid') 'allergic contact dermatitis of eyelid' SubClassOf 'allergic contact dermatitis' http://purl.obolibrary.org/obo/MONDO_0002133 chronic rheumatic pericarditis 'chronic rheumatic pericarditis' SubClassOf 'rheumatic pericarditis' http://purl.obolibrary.org/obo/HP_0010442 Polydactyly 'Polydactyly' SubClassOf 'Abnormal digit morphology' http://purl.obolibrary.org/obo/MONDO_0002140 vagina sarcoma 'vagina sarcoma' SubClassOf 'vaginal cancer' 'vagina sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'vagina') 'vagina sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0002143 vaginal yolk sac tumor 'vaginal yolk sac tumor' SubClassOf 'vaginal germ cell malignant tumor' 'vaginal yolk sac tumor' SubClassOf 'endodermal sinus tumor' 'vaginal yolk sac tumor' EquivalentTo 'endodermal sinus tumor' and ('disease has location' some 'vagina') http://purl.obolibrary.org/obo/MONDO_0002159 fallopian tube leiomyosarcoma 'fallopian tube leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'fallopian tube') 'fallopian tube leiomyosarcoma' SubClassOf 'fallopian tube cancer' 'fallopian tube leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/HP_0009473 Joint contracture of the hand 'Joint contracture of the hand' SubClassOf 'Abnormality of upper limb joint' 'Joint contracture of the hand' SubClassOf 'Limb joint contracture' http://purl.obolibrary.org/obo/MONDO_0002166 rectum lymphoma 'rectum lymphoma' SubClassOf 'rectum cancer' 'rectum lymphoma' SubClassOf 'colorectal lymphoma' 'rectum lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'rectum') http://purl.obolibrary.org/obo/MONDO_0002168 rectum sarcoma 'rectum sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'rectum') 'rectum sarcoma' SubClassOf 'sarcoma' 'rectum sarcoma' SubClassOf 'rectum cancer' http://purl.obolibrary.org/obo/MONDO_0002162 fallopian tube adenosarcoma 'fallopian tube adenosarcoma' EquivalentTo 'adenosarcoma' and ('disease has location' some 'fallopian tube') 'fallopian tube adenosarcoma' SubClassOf 'fallopian tube cancer' 'fallopian tube adenosarcoma' SubClassOf 'adenosarcoma' http://purl.obolibrary.org/obo/MONDO_0002163 thymus lipoma 'thymus lipoma' SubClassOf 'benign neoplasm of thymus' 'thymus lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'thymus') 'thymus lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/CHEBI_25154 manganese molecular entity 'manganese molecular entity' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/MONDO_0002170 chronic eustachian salpingitis 'chronic eustachian salpingitis' SubClassOf 'otosalpingitis' 'chronic eustachian salpingitis' SubClassOf 'chronic otitis media' http://purl.obolibrary.org/obo/MONDO_0002186 acute maxillary sinusitis 'acute maxillary sinusitis' SubClassOf 'maxillary sinusitis' 'acute maxillary sinusitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0002190 vulvar syringoma 'vulvar syringoma' EquivalentTo 'syringoma' and ('disease has location' some 'mammalian vulva') 'vulvar syringoma' SubClassOf 'vulvar benign neoplasm' 'vulvar syringoma' SubClassOf 'benign neoplasm of sweat gland' 'vulvar syringoma' SubClassOf 'syringoma' http://purl.obolibrary.org/obo/MONDO_0002198 vulvar glandular neoplasm 'vulvar glandular neoplasm' SubClassOf 'glandular cell neoplasm' 'vulvar glandular neoplasm' EquivalentTo 'glandular cell neoplasm' and ('disease has location' some 'mammalian vulva') 'vulvar glandular neoplasm' SubClassOf 'vulvar neoplasm' http://purl.obolibrary.org/obo/MONDO_0002192 vulvar angiokeratoma 'vulvar angiokeratoma' EquivalentTo 'angiokeratoma' and ('disease has location' some 'mammalian vulva') '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 'integumentary system benign neoplasm' 'Bartholin gland benign neoplasm' SubClassOf 'vestibular gland benign neoplasm' 'Bartholin gland benign neoplasm' SubClassOf 'Bartholin gland neoplasm' 'Bartholin gland benign neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'major vestibular gland') 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' EquivalentTo 'squamous papilloma' and ('disease has location' some 'mammalian vulva') http://purl.obolibrary.org/obo/GO_0004879 nuclear receptor activity 'nuclear receptor activity' SubClassOf 'signaling receptor activity' http://purl.obolibrary.org/obo/CHEBI_15765 L-dopa 'L-dopa' SubClassOf 'amino acid' http://purl.obolibrary.org/obo/MONDO_0002204 transient arthritis 'transient arthritis' SubClassOf 'arthritis' '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' EquivalentTo 'melanoma' and ('disease has location' some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0002201 vulvar trichoepithelioma 'vulvar trichoepithelioma' SubClassOf 'trichoblastoma' 'vulvar trichoepithelioma' SubClassOf 'vulvar benign neoplasm' 'vulvar trichoepithelioma' EquivalentTo 'trichoblastoma' and ('disease has location' some 'mammalian vulva') 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' EquivalentTo 'Paget disease' and ('disease has location' some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0002214 brain germinoma 'brain germinoma' SubClassOf 'brain cancer' 'brain germinoma' SubClassOf 'central nervous system germinoma' 'brain germinoma' EquivalentTo 'germinoma' and ('disease has location' some 'brain') http://purl.obolibrary.org/obo/MONDO_0002216 brain sarcoma 'brain sarcoma' SubClassOf 'brain cancer' 'brain sarcoma' SubClassOf 'central nervous system sarcoma' 'brain sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'brain') 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' EquivalentTo 'cancer' and ('disease has location' some 'temporal lobe') 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' EquivalentTo 'cholesterol embolism' and ('disease has location' some 'kidney') 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 'autosomal recessive disease' 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' http://purl.obolibrary.org/obo/HP_0000998 Hypertrichosis 'Hypertrichosis' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/MONDO_0016664 drug-induced vasculitis 'drug-induced vasculitis' SubClassOf 'secondary vasculitis' http://purl.obolibrary.org/obo/HP_0010316 Ebstein anomaly of the tricuspid valve 'Ebstein anomaly of the tricuspid valve' SubClassOf 'Abnormal tricuspid valve morphology' http://purl.obolibrary.org/obo/MONDO_0002034 cecum lymphoma 'cecum lymphoma' SubClassOf 'colon lymphoma' 'cecum lymphoma' SubClassOf 'cecum cancer' 'cecum lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'caecum') http://purl.obolibrary.org/obo/MONDO_0002030 chronic cervicitis 'chronic cervicitis' SubClassOf 'cervicitis' http://purl.obolibrary.org/obo/MONDO_0002057 breast leiomyoma 'breast leiomyoma' SubClassOf 'leiomyoma' 'breast leiomyoma' SubClassOf 'breast benign neoplasm' 'breast leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'breast') http://purl.obolibrary.org/obo/MONDO_0002061 intraductal papillary breast neoplasm 'intraductal papillary breast neoplasm' SubClassOf 'intraductal breast neoplasm' http://purl.obolibrary.org/obo/GO_0004737 pyruvate decarboxylase activity 'pyruvate decarboxylase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0002073 malignant pineal area germ cell neoplasm 'malignant pineal area germ cell neoplasm' SubClassOf 'extragonadal germ cell cancer' 'malignant pineal area germ cell neoplasm' EquivalentTo 'Malignant Germ Cell Tumor' and ('disease has location' some 'pineal body') 'malignant pineal area germ cell neoplasm' SubClassOf 'central nervous system germ cell tumor' 'malignant pineal area germ cell neoplasm' SubClassOf 'pineal gland cancer' http://purl.obolibrary.org/obo/GO_0004749 ribose phosphate diphosphokinase activity 'ribose phosphate diphosphokinase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004757 sepiapterin reductase activity 'sepiapterin reductase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0002092 small intestine leiomyoma 'small intestine leiomyoma' SubClassOf 'benign neoplasm of small intestine' 'small intestine leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'small intestine') 'small intestine leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/GO_0004773 steryl-sulfatase activity 'steryl-sulfatase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0100475 severe ichthyosis vulgaris 'severe ichthyosis vulgaris' SubClassOf 'autosomal dominant ichthyosis vulgaris' http://purl.obolibrary.org/obo/MONDO_0100486 adult acne 'adult acne' SubClassOf 'acne' http://purl.obolibrary.org/obo/MONDO_0100554 hereditary narcolepsy 'hereditary narcolepsy' SubClassOf 'narcolepsy' 'hereditary narcolepsy' SubClassOf 'hereditary neurological disease' 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') http://purl.obolibrary.org/obo/GO_0014032 neural crest cell development 'neural crest cell development' SubClassOf 'developmental process' 'neural crest cell development' SubClassOf 'cellular process' 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 'cardiogenetic disease' 'GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/UBERON_0011932 pilosebaceous unit 'pilosebaceous unit' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/HP_0000953 Hyperpigmentation of the skin 'Hyperpigmentation of the skin' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0000962 Hyperkeratosis 'Hyperkeratosis' SubClassOf 'Epidermal thickening' http://purl.obolibrary.org/obo/HP_0000969 Edema 'Edema' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0000966 Hypohidrosis 'Hypohidrosis' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/HP_0000970 Anhidrosis 'Anhidrosis' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/HP_0000972 Palmoplantar hyperkeratosis 'Palmoplantar hyperkeratosis' SubClassOf 'Hyperkeratosis' 'Palmoplantar hyperkeratosis' SubClassOf 'Abnormality of the upper limb' 'Palmoplantar hyperkeratosis' SubClassOf 'Abnormal foot morphology' http://purl.obolibrary.org/obo/HP_0000982 Palmoplantar keratoderma 'Palmoplantar keratoderma' SubClassOf 'Palmoplantar hyperkeratosis' http://purl.obolibrary.org/obo/HP_0000988 Skin rash 'Skin rash' SubClassOf 'Inflammatory abnormality of the skin' http://purl.obolibrary.org/obo/HP_0000992 Cutaneous photosensitivity 'Cutaneous photosensitivity' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/UBERON_0035965 wall of blood vessel 'wall of blood vessel' SubClassOf 'anatomical structure' 'wall of blood vessel' SubClassOf 'part of' some 'blood vessel' http://purl.obolibrary.org/obo/HP_0000926 Platyspondyly 'Platyspondyly' SubClassOf 'Abnormal form of the vertebral bodies' http://purl.obolibrary.org/obo/HP_0000939 Osteoporosis 'Osteoporosis' SubClassOf 'Reduced bone mineral density' 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' http://purl.obolibrary.org/obo/MONDO_0016734 anaplastic ganglioglioma 'anaplastic ganglioglioma' SubClassOf 'ganglioglioma' http://purl.obolibrary.org/obo/GO_0004602 glutathione peroxidase activity 'glutathione peroxidase activity' SubClassOf 'catalytic activity' 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 'acute disease' http://purl.obolibrary.org/obo/MONDO_0100353 HHV-7 infectious disease 'HHV-7 infectious disease' SubClassOf 'Roseolovirus infectious disease' http://purl.obolibrary.org/obo/GO_0004689 phosphorylase kinase activity 'phosphorylase kinase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0100453 GUCY2D-related recessive retinopathy 'GUCY2D-related recessive retinopathy' SubClassOf 'autosomal recessive disease' 'GUCY2D-related recessive retinopathy' SubClassOf 'GUCY2D retinopathy' http://purl.obolibrary.org/obo/MONDO_0100433 ACTB-associated syndromic thrombocytopenia 'ACTB-associated syndromic thrombocytopenia' SubClassOf 'syndromic constitutional thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0100441 GUCY2D-related dominant retinopathy 'GUCY2D-related dominant retinopathy' SubClassOf 'autosomal dominant disease' 'GUCY2D-related dominant retinopathy' SubClassOf 'GUCY2D retinopathy' 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 'Brown-Vialetto-van Laere syndrome 1' http://purl.obolibrary.org/obo/HP_0010606 Hordeolum 'Hordeolum' SubClassOf 'Abnormal skin morphology' 'Hordeolum' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/HP_0010566 Hamartoma 'Hamartoma' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/MONDO_0016468 toxin-mediated infectious botulism 'toxin-mediated infectious botulism' SubClassOf 'botulism' http://purl.obolibrary.org/obo/MONDO_0041448 metastasis from malignant tumor of colon 'metastasis from malignant tumor of colon' SubClassOf 'metastatic malignant neoplasm' 'metastasis from malignant tumor of colon' SubClassOf 'malignant colon neoplasm' http://purl.obolibrary.org/obo/GO_0004509 steroid 21-monooxygenase activity 'steroid 21-monooxygenase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0100286 respiratory syncytial virus bronchiolitis 'respiratory syncytial virus bronchiolitis' SubClassOf 'Respiratory Syncytial Virus Infection' 'respiratory syncytial virus bronchiolitis' SubClassOf 'bronchiolitis' http://purl.obolibrary.org/obo/GO_0004555 alpha,alpha-trehalase activity 'alpha,alpha-trehalase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004557 alpha-galactosidase activity 'alpha-galactosidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004559 alpha-mannosidase activity 'alpha-mannosidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004561 alpha-N-acetylglucosaminidase activity 'alpha-N-acetylglucosaminidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004563 beta-N-acetylhexosaminidase activity 'beta-N-acetylhexosaminidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004565 beta-galactosidase activity 'beta-galactosidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004566 beta-glucuronidase activity 'beta-glucuronidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004457 lactate dehydrogenase activity 'lactate dehydrogenase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004466 long-chain fatty acyl-CoA dehydrogenase activity 'long-chain fatty acyl-CoA dehydrogenase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004485 methylcrotonoyl-CoA carboxylase activity 'methylcrotonoyl-CoA carboxylase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0100302 LADD syndrome 1 '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' http://purl.obolibrary.org/obo/HP_0010514 Hyperpituitarism 'Hyperpituitarism' SubClassOf 'Abnormality of the endocrine system' 'Hyperpituitarism' SubClassOf 'Abnormal brain morphology' http://purl.obolibrary.org/obo/HP_0010524 Disturbed sensory perception 'Disturbed sensory perception' SubClassOf 'Abnormality of mental function' http://purl.obolibrary.org/obo/HP_0010535 Sleep apnea 'Sleep apnea' SubClassOf 'Sleep abnormality' http://purl.obolibrary.org/obo/HP_0010550 Paraplegia 'Paraplegia' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/MONDO_0100193 chronic liver failure 'chronic liver failure' SubClassOf 'liver failure' http://purl.obolibrary.org/obo/MONDO_0100174 age related macular degeneration, susceptibility to 'age related macular degeneration, susceptibility to' SubClassOf 'inherited disease susceptibility' 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' 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 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0100166 PPP2R1A-related intellectual disability 'PPP2R1A-related intellectual disability' SubClassOf 'hereditary neurological disease' 'PPP2R1A-related intellectual disability' SubClassOf 'developmental disorder of mental health' http://purl.obolibrary.org/obo/MONDO_0100132 intrahepatic bile duct adenosquamous carcinoma 'intrahepatic bile duct adenosquamous carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and ('disease has location' some 'intrahepatic bile duct') 'intrahepatic bile duct adenosquamous carcinoma' SubClassOf 'adenosquamous bile duct carcinoma' 'intrahepatic bile duct adenosquamous carcinoma' SubClassOf 'intrahepatic bile duct cancer' 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 'hereditary neuromuscular disease' 'X-linked recessive mitochondrial myopathy' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/GO_0004415 hyalurononglucosaminidase activity 'hyalurononglucosaminidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0041366 acute epiglottitis 'acute epiglottitis' SubClassOf 'acute laryngitis' 'acute epiglottitis' SubClassOf 'epiglottitis' http://purl.obolibrary.org/obo/GO_0004423 iduronate-2-sulfatase activity 'iduronate-2-sulfatase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0100110 adenovirus renal infection 'adenovirus renal infection' SubClassOf 'kidney disease' 'adenovirus renal infection' EquivalentTo 'adenoviridae infectious disease' and ('disease has location' some 'kidney') 'adenovirus renal infection' SubClassOf 'disease has major feature' some 'Severe adenovirus infection' 'adenovirus renal infection' SubClassOf 'adenoviridae infectious disease' 'adenovirus renal infection' SubClassOf 'urinary tract infection' http://purl.obolibrary.org/obo/GO_0004336 galactosylceramidase activity 'galactosylceramidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004339 glucan 1,4-alpha-glucosidase activity 'glucan 1,4-alpha-glucosidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/HP_0009827 Amelia 'Amelia' SubClassOf 'Abnormality of limbs' 'Amelia' SubClassOf 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/GO_0004345 glucose-6-phosphate dehydrogenase activity 'glucose-6-phosphate dehydrogenase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004346 glucose-6-phosphatase activity 'glucose-6-phosphatase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004348 glucosylceramidase activity 'glucosylceramidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/HP_0009830 Peripheral neuropathy 'Peripheral neuropathy' SubClassOf 'Abnormal nervous system physiology' http://purl.obolibrary.org/obo/GO_0004357 glutamate-cysteine ligase activity 'glutamate-cysteine ligase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004363 glutathione synthase activity 'glutathione synthase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0004370 glycerol kinase activity 'glycerol kinase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/HP_0010884 Acromelia 'Acromelia' SubClassOf 'Abnormality of limbs' 'Acromelia' SubClassOf 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/HP_0010885 Avascular necrosis 'Avascular necrosis' SubClassOf 'Abnormality of the skeletal system' http://purl.obolibrary.org/obo/MONDO_0100076 juvenile idiopathic scoliosis 'juvenile idiopathic scoliosis' SubClassOf 'idiopathic scoliosis' http://purl.obolibrary.org/obo/MONDO_0016216 adult hepatocellular carcinoma 'adult hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' 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') http://purl.obolibrary.org/obo/MONDO_0100037 juvenile onset pityriasis rubra pilaris 'juvenile onset pityriasis rubra pilaris' SubClassOf 'pityriasis rubra pilaris' http://purl.obolibrary.org/obo/MONDO_0100047 basal cell carcinoma, susceptibility to 'basal cell carcinoma, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100014 autoimmune retinopathy 'autoimmune retinopathy' SubClassOf 'retinopathy' 'autoimmune retinopathy' SubClassOf 'autoimmune disorder of the nervous system' 'autoimmune retinopathy' EquivalentTo 'type II hypersensitivity reaction disease' and ('disease has location' some 'retina') 'autoimmune retinopathy' SubClassOf 'autoimmune disease of ear, nose and throat' http://purl.obolibrary.org/obo/MONDO_0100018 adult onset pityriasis rubra pilaris 'adult onset pityriasis rubra pilaris' SubClassOf 'pityriasis rubra pilaris' http://purl.obolibrary.org/obo/MONDO_0016266 squamous cell carcinoma of the corpus uteri 'squamous cell carcinoma of the corpus uteri' SubClassOf 'uterine corpus cancer' 'squamous cell carcinoma of the corpus uteri' SubClassOf 'uterine carcinoma' 'squamous cell carcinoma of the corpus uteri' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'body of uterus') 'squamous cell carcinoma of the corpus uteri' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0016267 undifferentiated carcinoma of the corpus uteri 'undifferentiated carcinoma of the corpus uteri' SubClassOf 'undifferentiated carcinoma' 'undifferentiated carcinoma of the corpus uteri' SubClassOf 'uterine corpus cancer' 'undifferentiated carcinoma of the corpus uteri' SubClassOf 'uterine carcinoma' 'undifferentiated carcinoma of the corpus uteri' EquivalentTo 'undifferentiated carcinoma' and ('disease has location' some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0016263 primitive neuroectodermal tumor of the corpus uteri 'primitive neuroectodermal tumor of the corpus uteri' SubClassOf 'corpus uteri neoplasm' 'primitive neuroectodermal tumor of the corpus uteri' SubClassOf 'primitive neuroectodermal tumor' 'primitive neuroectodermal tumor of the corpus uteri' EquivalentTo 'primitive neuroectodermal tumor' and ('disease has location' some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0016280 sarcoma of cervix uteri 'sarcoma of cervix uteri' SubClassOf 'cervical cancer' 'sarcoma of cervix uteri' SubClassOf 'sarcoma' 'sarcoma of cervix uteri' EquivalentTo 'sarcoma' and ('disease has location' some 'uterine cervix') http://purl.obolibrary.org/obo/MONDO_0016271 adenoid cystic carcinoma of the corpus uteri 'adenoid cystic carcinoma of the corpus uteri' SubClassOf 'adenoid cystic carcinoma' 'adenoid cystic carcinoma of the corpus uteri' SubClassOf 'uterine carcinoma' 'adenoid cystic carcinoma of the corpus uteri' SubClassOf 'uterine corpus cancer' 'adenoid cystic carcinoma of the corpus uteri' EquivalentTo 'adenoid cystic carcinoma' and ('disease has location' some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0016272 transitional cell carcinoma of the corpus uteri 'transitional cell carcinoma of the corpus uteri' SubClassOf 'uterine carcinoma' 'transitional cell carcinoma of the corpus uteri' SubClassOf 'Transitional Cell Carcinoma' 'transitional cell carcinoma of the corpus uteri' SubClassOf 'uterine corpus cancer' 'transitional cell carcinoma of the corpus uteri' EquivalentTo 'Transitional Cell Carcinoma' and ('disease has location' some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0016273 malignant germ cell tumor of corpus uteri 'malignant germ cell tumor of corpus uteri' SubClassOf 'Malignant Germ Cell Tumor' 'malignant germ cell tumor of corpus uteri' EquivalentTo 'Malignant Germ Cell Tumor' and ('disease has location' some 'body of uterus') 'malignant germ cell tumor of corpus uteri' SubClassOf 'uterine corpus cancer' 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' EquivalentTo 'Malignant Germ Cell Tumor' and ('disease has location' some 'uterine cervix') 'malignant germ cell tumor of cervix uteri' SubClassOf 'Malignant Germ Cell Tumor' 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' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'uterine cervix') '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' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'uterine cervix') http://purl.obolibrary.org/obo/MONDO_0016285 papillary carcinoma of the cervix uteri 'papillary carcinoma of the cervix uteri' SubClassOf 'papillary carcinoma' 'papillary carcinoma of the cervix uteri' EquivalentTo 'papillary carcinoma' and ('disease has location' some 'uterine cervix') 'papillary carcinoma of the cervix uteri' SubClassOf 'cervical carcinoma' http://purl.obolibrary.org/obo/MONDO_0041259 diphtheritic myocarditis 'diphtheritic myocarditis' SubClassOf 'bacterial myocarditis' 'diphtheritic myocarditis' SubClassOf 'diphtheria' http://purl.obolibrary.org/obo/GO_0004252 serine-type endopeptidase activity 'serine-type endopeptidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0041295 acute papillary necrosis 'acute papillary necrosis' SubClassOf 'acute disease' 'acute papillary necrosis' SubClassOf 'kidney papillary necrosis' http://purl.obolibrary.org/obo/HP_0010762 Chordoma 'Chordoma' SubClassOf 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/HP_0009743 Distichiasis 'Distichiasis' SubClassOf 'Abnormal eyelash morphology' http://purl.obolibrary.org/obo/UBERON_0006807 ectepicondyle of humerus 'ectepicondyle of humerus' SubClassOf 'part of' some 'humerus' 'ectepicondyle of humerus' SubClassOf 'part of' some 'long bone' 'ectepicondyle of humerus' SubClassOf 'part of' some 'bone element' 'ectepicondyle of humerus' SubClassOf 'skeleton structure' http://purl.obolibrary.org/obo/UBERON_0006877 vasculature of liver 'vasculature of liver' EquivalentTo 'vasculature' and ('part of' some 'liver') 'vasculature of liver' SubClassOf 'part of' some 'trunk' 'vasculature of liver' SubClassOf 'vasculature' 'vasculature of liver' SubClassOf 'part of' some 'liver' http://purl.obolibrary.org/obo/CHEBI_35143 hemoglobin 'hemoglobin' SubClassOf 'protein' 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' http://purl.obolibrary.org/obo/MONDO_0012625 retinitis pigmentosa 37 'retinitis pigmentosa 37' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/GO_0004155 6,7-dihydropteridine reductase activity '6,7-dihydropteridine reductase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0012659 age related macular degeneration 9 'age related macular degeneration 9' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0012684 arrhythmogenic right ventricular dysplasia 12 'arrhythmogenic right ventricular dysplasia 12' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0012698 Waardenburg syndrome type 2E 'Waardenburg syndrome type 2E' SubClassOf 'Waardenburg syndrome type 2' http://purl.obolibrary.org/obo/HP_0010910 Hypervalinemia 'Hypervalinemia' SubClassOf 'Abnormal circulating carboxylic acid concentration' http://purl.obolibrary.org/obo/HP_0010911 Hyperleucinemia 'Hyperleucinemia' SubClassOf 'Abnormal circulating carboxylic acid concentration' http://purl.obolibrary.org/obo/GO_0004000 adenosine deaminase activity 'adenosine deaminase activity' SubClassOf 'catalytic activity' 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' 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' http://purl.obolibrary.org/obo/UBERON_0006799 glandular epithelium 'glandular epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/GO_0004029 aldehyde dehydrogenase (NAD+) activity 'aldehyde dehydrogenase (NAD+) activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0012522 diabetes mellitus, transient neonatal, 3 'diabetes mellitus, transient neonatal, 3' SubClassOf 'transient neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0012539 Joubert syndrome 6 'Joubert syndrome 6' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/GO_0004046 aminoacylase activity 'aminoacylase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0012540 age related macular degeneration 4 'age related macular degeneration 4' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0012553 cerebrooculofacioskeletal syndrome 2 'cerebrooculofacioskeletal syndrome 2' SubClassOf 'COFS syndrome' http://purl.obolibrary.org/obo/MONDO_0036501 refractory malignant neoplasm 'refractory malignant neoplasm' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0012563 holoprosencephaly 9 'holoprosencephaly 9' SubClassOf 'alobar holoprosencephaly' 'holoprosencephaly 9' SubClassOf 'microform holoprosencephaly' 'holoprosencephaly 9' SubClassOf 'lobar holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0012579 autoimmune pulmonary alveolar proteinosis 'autoimmune pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' 'autoimmune pulmonary alveolar proteinosis' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune pulmonary alveolar proteinosis' EquivalentTo 'pulmonary alveolar proteinosis' and ('disease arises from feature' some 'Autoimmunity') 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 'inherited disease susceptibility' 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 'inherited disease susceptibility' http://purl.obolibrary.org/obo/HP_0010980 Hyperlipoproteinemia 'Hyperlipoproteinemia' SubClassOf 'Abnormal circulating lipid concentration' http://purl.obolibrary.org/obo/HP_0010976 B lymphocytopenia 'B lymphocytopenia' SubClassOf 'Lymphopenia' http://purl.obolibrary.org/obo/MONDO_0012394 multiple synostoses syndrome 2 'multiple synostoses syndrome 2' SubClassOf 'multiple synostoses syndrome' http://purl.obolibrary.org/obo/HP_0030050 Narcolepsy 'Narcolepsy' SubClassOf 'Sleep abnormality' 'Narcolepsy' SubClassOf 'Drowsiness' http://purl.obolibrary.org/obo/UBERON_0006666 great cerebral vein 'great cerebral vein' SubClassOf 'part of' some 'telencephalon' 'great cerebral vein' SubClassOf 'vein' 'great cerebral vein' SubClassOf 'brain blood vessel' http://purl.obolibrary.org/obo/GO_0018549 methanethiol oxidase activity 'methanethiol oxidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/UBERON_0006692 vertebral canal 'vertebral canal' SubClassOf 'part of' some 'vertebral column' 'vertebral canal' SubClassOf 'skeleton structure' http://purl.obolibrary.org/obo/MONDO_0012419 age related macular degeneration 7 'age related macular degeneration 7' SubClassOf 'age-related macular degeneration' 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' 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' http://purl.obolibrary.org/obo/MONDO_0012434 arrhythmogenic right ventricular dysplasia 10 'arrhythmogenic right ventricular dysplasia 10' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_1011336 nervous system disorder, non-human animal 'nervous system disorder, non-human animal' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/GO_0043574 peroxisomal transport 'peroxisomal transport' SubClassOf 'cellular localization' 'peroxisomal transport' SubClassOf 'transport' 'peroxisomal transport' SubClassOf 'establishment of localization in cell' http://purl.obolibrary.org/obo/MONDO_0012466 Parkinson disease 13, autosomal dominant, susceptibility to 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'inherited disease susceptibility' 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0012480 diabetes mellitus, transient neonatal, 2 'diabetes mellitus, transient neonatal, 2' SubClassOf 'transient neonatal diabetes mellitus' http://purl.obolibrary.org/obo/GO_0043484 regulation of RNA splicing 'regulation of RNA splicing' SubClassOf 'regulation of gene expression' http://purl.obolibrary.org/obo/MONDO_0012299 nanophthalmos 2 'nanophthalmos 2' SubClassOf 'nanophthalmia' http://purl.obolibrary.org/obo/MONDO_0002900 cerebral neuroblastoma 'cerebral neuroblastoma' SubClassOf 'cerebral hemisphere cancer' 'cerebral neuroblastoma' SubClassOf 'neuroblastoma' 'cerebral neuroblastoma' EquivalentTo 'neuroblastoma' and ('disease has location' some 'telencephalon') 'cerebral neuroblastoma' SubClassOf 'intracranial primitive neuroectodermal tumor' http://purl.obolibrary.org/obo/MONDO_0002923 uterine corpus endometrial stromal sarcoma 'uterine corpus endometrial stromal sarcoma' EquivalentTo 'endometrial stromal sarcoma' and ('disease has location' some 'body of uterus') 'uterine corpus endometrial stromal sarcoma' SubClassOf 'uterine sarcoma' 'uterine corpus endometrial stromal sarcoma' SubClassOf 'endometrial stromal sarcoma' http://purl.obolibrary.org/obo/MONDO_0002935 penis basal cell carcinoma 'penis basal cell carcinoma' EquivalentTo 'skin basal cell carcinoma' and ('disease has location' some 'penis') 'penis basal cell carcinoma' SubClassOf 'disease has location' some 'skin of penis' 'penis basal cell carcinoma' SubClassOf 'squamous cell carcinoma of penis' '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' EquivalentTo 'skin basal cell carcinoma' and ('disease has location' some 'scrotum') 'scrotum basal cell carcinoma' SubClassOf 'scrotum squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002943 external ear basal cell carcinoma 'external ear basal cell carcinoma' EquivalentTo 'skin basal cell carcinoma' and ('disease has location' some 'external ear') 'external ear basal cell carcinoma' SubClassOf 'external ear squamous 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' EquivalentTo 'carcinoma' and ('disease has location' some 'external ear') 'external ear carcinoma' SubClassOf 'head and neck carcinoma' 'external ear carcinoma' SubClassOf 'external ear cancer' http://purl.obolibrary.org/obo/UBERON_0006562 pharynx 'pharynx' SubClassOf 'anatomical structure' 'pharynx' SubClassOf 'part of' some 'digestive tract' http://purl.obolibrary.org/obo/MONDO_0002955 vulva basal cell carcinoma 'vulva basal cell carcinoma' SubClassOf 'Vulvar Squamous Cell Carcinoma' 'vulva basal cell carcinoma' EquivalentTo 'skin basal cell carcinoma' and ('disease has location' some 'mammalian vulva') 'vulva basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' 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 'gastrointestinal lymphoma' 'splenic manifestation of prolymphocytic leukemia' EquivalentTo 'prolymphocytic leukemia' and ('disease has location' some 'spleen') '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 'disease has location' some 'scalp' 'dermatophytosis of scalp or beard' EquivalentTo 'dermatophytosis' and ('disease has location' some 'scalp') http://purl.obolibrary.org/obo/MONDO_0002969 ciliary body cancer 'ciliary body cancer' EquivalentTo 'cancer' and ('disease has location' some 'ciliary body') 'ciliary body cancer' SubClassOf 'iris cancer' 'ciliary body cancer' SubClassOf 'ciliary body neoplasm' http://purl.obolibrary.org/obo/MONDO_0002975 malignant breast melanoma 'malignant breast melanoma' EquivalentTo 'melanoma' and ('disease has location' some 'breast') 'malignant breast melanoma' SubClassOf 'breast cancer' 'malignant breast melanoma' SubClassOf 'melanoma' 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' EquivalentTo 'peripheral primitive neuroectodermal tumor' and ('disease has location' some 'bone tissue') 'peripheral primitive neuroectodermal tumor of bone' SubClassOf 'Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone' 'peripheral primitive neuroectodermal tumor of bone' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/MONDO_0012309 parietal foramina 2 'parietal foramina 2' SubClassOf 'parietal foramina' http://purl.obolibrary.org/obo/MONDO_0012314 short QT syndrome type 3 'short QT syndrome type 3' SubClassOf 'short QT syndrome' http://purl.obolibrary.org/obo/MONDO_0012313 short QT syndrome type 2 'short QT syndrome type 2' SubClassOf 'short QT syndrome' http://purl.obolibrary.org/obo/MONDO_0002999 central nervous system germinoma 'central nervous system germinoma' EquivalentTo 'germinoma' and ('disease has location' some 'central nervous system') '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 'extragonadal germinoma' http://purl.obolibrary.org/obo/MONDO_0012333 autosomal recessive nonsyndromic hearing loss 53 'autosomal recessive nonsyndromic hearing loss 53' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0012341 celiac disease, susceptibility to, 3 'celiac disease, susceptibility to, 3' SubClassOf 'inherited disease susceptibility' 'celiac disease, susceptibility to, 3' SubClassOf 'predisposes towards' some 'celiac disease' http://purl.obolibrary.org/obo/MONDO_0012145 macular degeneration, age-related, 3 'macular degeneration, age-related, 3' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0012154 myopia 6 'myopia 6' SubClassOf 'genetic disorder' 'myopia 6' SubClassOf 'refractive error' http://purl.obolibrary.org/obo/UBERON_0002030 nipple 'nipple' SubClassOf 'part of' some 'mammary gland' 'nipple' SubClassOf 'anatomical structure' 'nipple' SubClassOf 'part of' some 'multicellular organism' http://purl.obolibrary.org/obo/UBERON_0002068 urachus 'urachus' SubClassOf 'anatomical structure' 'urachus' SubClassOf 'part of' some 'urinary bladder' http://purl.obolibrary.org/obo/UBERON_0002018 synovial membrane of synovial joint 'synovial membrane of synovial joint' SubClassOf 'squamous epithelium' 'synovial membrane of synovial joint' SubClassOf 'layer of synovial tissue' http://purl.obolibrary.org/obo/UBERON_0002027 stratum corneum of epidermis 'stratum corneum of epidermis' SubClassOf 'part of' some 'skin epidermis' 'stratum corneum of epidermis' SubClassOf 'part of' some 'integumental system' 'stratum corneum of epidermis' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0002809 pancreatic cystadenoma 'pancreatic cystadenoma' SubClassOf 'cystadenoma' 'pancreatic cystadenoma' SubClassOf 'pancreatic exocrine neoplasm' 'pancreatic cystadenoma' EquivalentTo 'cystadenoma' and ('disease has location' some 'exocrine pancreas') http://purl.obolibrary.org/obo/MONDO_0002808 pancreatic serous cystadenoma 'pancreatic serous cystadenoma' EquivalentTo 'serous cystadenoma' and ('disease has location' some 'pancreas') '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' http://purl.obolibrary.org/obo/MONDO_0002815 acute myocarditis 'acute myocarditis' SubClassOf 'acute disease' 'acute myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/UBERON_0002072 hypodermis 'hypodermis' SubClassOf 'anatomical structure' 'hypodermis' SubClassOf 'part of' some 'integumental system' http://purl.obolibrary.org/obo/UBERON_0002074 hair shaft 'hair shaft' SubClassOf 'part of' some 'strand of hair' 'hair shaft' SubClassOf 'cutaneous appendage' http://purl.obolibrary.org/obo/UBERON_0002075 viscus 'viscus' SubClassOf 'part of' some 'trunk' 'viscus' SubClassOf 'anatomical structure' 'viscus' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/MONDO_0002828 Bartholin gland transitional cell carcinoma 'Bartholin gland transitional cell carcinoma' EquivalentTo 'Transitional Cell Carcinoma' and ('disease has location' some 'major vestibular gland') 'Bartholin gland transitional cell carcinoma' SubClassOf 'Transitional Cell Carcinoma' 'Bartholin gland transitional cell carcinoma' SubClassOf 'Bartholin Gland Carcinoma' 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' EquivalentTo 'Transitional Cell Carcinoma' and ('disease has location' some 'fallopian tube') 'fallopian tube transitional cell carcinoma' SubClassOf 'Fallopian Tube Carcinoma' http://purl.obolibrary.org/obo/MONDO_0002834 primary prostate urothelial carcinoma 'primary prostate urothelial carcinoma' EquivalentTo 'Transitional Cell Carcinoma' and ('disease has location' some 'prostate gland') 'primary prostate urothelial carcinoma' SubClassOf 'prostate carcinoma' 'primary prostate urothelial carcinoma' SubClassOf 'Transitional Cell Carcinoma' http://purl.obolibrary.org/obo/MONDO_0002842 bacterial gastritis 'bacterial gastritis' SubClassOf 'bacterial disease' 'bacterial gastritis' SubClassOf 'digestive system infectious disorder' 'bacterial gastritis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0002843 fungal gastritis 'fungal gastritis' SubClassOf 'fungal infectious disease' 'fungal gastritis' SubClassOf 'gastritis' 'fungal gastritis' SubClassOf 'digestive system infectious disorder' http://purl.obolibrary.org/obo/MONDO_0002849 liver rhabdomyosarcoma 'liver rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'liver rhabdomyosarcoma' SubClassOf 'liver sarcoma' 'liver rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'liver') http://purl.obolibrary.org/obo/MONDO_0002847 skeletal muscle cancer 'skeletal muscle cancer' SubClassOf 'skeletal muscle neoplasm' 'skeletal muscle cancer' EquivalentTo 'cancer' and ('disease has location' some 'skeletal muscle tissue') 'skeletal muscle cancer' SubClassOf 'muscle cancer' http://purl.obolibrary.org/obo/MONDO_0002848 skeletal muscle neoplasm 'skeletal muscle neoplasm' SubClassOf 'neoplasm' 'skeletal muscle neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'skeletal muscle tissue') 'skeletal muscle neoplasm' SubClassOf 'skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0002853 rectum rhabdomyosarcoma 'rectum rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'rectum rhabdomyosarcoma' SubClassOf 'rectum sarcoma' 'rectum rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'rectum') 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' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0002851 mediastinum rhabdomyosarcoma 'mediastinum rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'mediastinum rhabdomyosarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinum rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'mediastinum') http://purl.obolibrary.org/obo/MONDO_0002856 gallbladder rhabdomyosarcoma 'gallbladder rhabdomyosarcoma' SubClassOf 'gallbladder sarcoma' 'gallbladder rhabdomyosarcoma' SubClassOf 'liver rhabdomyosarcoma' 'gallbladder rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'gallbladder') http://purl.obolibrary.org/obo/MONDO_0002857 gallbladder sarcoma 'gallbladder sarcoma' SubClassOf 'gallbladder cancer' 'gallbladder sarcoma' SubClassOf 'soft tissue sarcoma' 'gallbladder sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'gallbladder') 'gallbladder sarcoma' SubClassOf 'liver sarcoma' http://purl.obolibrary.org/obo/MONDO_0002858 ovary rhabdomyosarcoma 'ovary rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'ovary') 'ovary rhabdomyosarcoma' SubClassOf 'ovarian sarcoma' 'ovary rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002859 breast rhabdomyosarcoma 'breast rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'breast rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'breast') 'breast rhabdomyosarcoma' SubClassOf 'breast sarcoma' http://purl.obolibrary.org/obo/MONDO_0002864 anus rhabdomyosarcoma 'anus rhabdomyosarcoma' SubClassOf 'rectum rhabdomyosarcoma' 'anus rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'anus') '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 'rectum sarcoma' 'anus sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'anus') http://purl.obolibrary.org/obo/MONDO_0002860 testis rhabdomyosarcoma 'testis rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'testis') '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' EquivalentTo 'sarcoma' and ('disease has location' some 'testis') 'testis sarcoma' SubClassOf 'testicular carcinoma' http://purl.obolibrary.org/obo/MONDO_0002862 bile duct sarcoma 'bile duct sarcoma' SubClassOf 'liver sarcoma' 'bile duct sarcoma' SubClassOf 'bile duct cancer' 'bile duct sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'bile duct') http://purl.obolibrary.org/obo/MONDO_0002867 pancreatic cystadenocarcinoma 'pancreatic cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' 'pancreatic cystadenocarcinoma' SubClassOf 'pancreatic adenocarcinoma' 'pancreatic cystadenocarcinoma' EquivalentTo 'cystadenocarcinoma' and ('disease has location' some 'pancreas') http://purl.obolibrary.org/obo/MONDO_0002870 tricuspid valve insufficiency 'tricuspid valve insufficiency' EquivalentTo 'vascular insufficiency disorder' and ('disease has location' some 'tricuspid valve') 'tricuspid valve insufficiency' SubClassOf 'vascular insufficiency disorder' 'tricuspid valve insufficiency' SubClassOf 'tricuspid valve disease' http://purl.obolibrary.org/obo/GO_0102175 3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity '3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0002881 vaginal adenosarcoma 'vaginal adenosarcoma' EquivalentTo 'adenosarcoma' and ('disease has location' some 'vagina') 'vaginal adenosarcoma' SubClassOf 'adenosarcoma' 'vaginal adenosarcoma' SubClassOf 'vaginal cancer' http://purl.obolibrary.org/obo/MONDO_0002880 ovarian adenosarcoma 'ovarian adenosarcoma' EquivalentTo 'adenosarcoma' and ('disease has location' some 'ovary') 'ovarian adenosarcoma' SubClassOf 'adenosarcoma' 'ovarian adenosarcoma' SubClassOf 'ovarian cancer' http://purl.obolibrary.org/obo/MONDO_0012212 Loeys-Dietz syndrome 1 'Loeys-Dietz syndrome 1' SubClassOf 'Loeys-Dietz syndrome' 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' http://purl.obolibrary.org/obo/HP_0030222 Visual agnosia 'Visual agnosia' SubClassOf 'Disturbed sensory perception' 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' http://purl.obolibrary.org/obo/GO_0043292 contractile muscle fiber 'contractile muscle fiber' SubClassOf 'part of' some 'cytoplasm' 'contractile muscle fiber' SubClassOf 'intracellular non-membrane-bounded organelle' http://purl.obolibrary.org/obo/MONDO_0012077 amyotrophic lateral sclerosis type 8 'amyotrophic lateral sclerosis type 8' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/HP_0030159 Cervical polyp 'Cervical polyp' SubClassOf 'Abnormality of the uterus' 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' 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' http://purl.obolibrary.org/obo/HP_0030186 Kinetic tremor 'Kinetic tremor' SubClassOf 'Tremor' http://purl.obolibrary.org/obo/MONDO_0002706 cervix endometriosis 'cervix endometriosis' SubClassOf 'cervix disorder' 'cervix endometriosis' SubClassOf 'endometriosis' 'cervix endometriosis' EquivalentTo 'endometriosis' and ('disease has location' some 'uterine cervix') http://purl.obolibrary.org/obo/MONDO_0002703 appendix mucinous cystadenocarcinoma 'appendix mucinous cystadenocarcinoma' EquivalentTo 'mucinous cystadenocarcinoma' and ('disease has location' some 'vermiform appendix') 'appendix mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'appendix mucinous cystadenocarcinoma' SubClassOf 'mucinous adenocarcinoma of the appendix' http://purl.obolibrary.org/obo/MONDO_0002705 breast mucinous cystadenocarcinoma 'breast mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'breast mucinous cystadenocarcinoma' EquivalentTo 'mucinous cystadenocarcinoma' and ('disease has location' some 'breast') 'breast mucinous cystadenocarcinoma' SubClassOf 'breast adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002710 infiltrating angiolipoma 'infiltrating angiolipoma' SubClassOf 'infiltrating lipoma' 'infiltrating angiolipoma' SubClassOf 'Angiolipoma' http://purl.obolibrary.org/obo/MONDO_0002716 childhood spinal cord tumor 'childhood spinal cord tumor' SubClassOf 'childhood neoplasm' 'childhood spinal cord tumor' SubClassOf 'spinal cord neoplasm' http://purl.obolibrary.org/obo/MONDO_0002731 cerebral hemisphere cancer 'cerebral hemisphere cancer' SubClassOf 'supratentorial cancer' 'cerebral hemisphere cancer' EquivalentTo 'cancer' and ('disease has location' some 'cerebral hemisphere') 'cerebral hemisphere cancer' SubClassOf 'neoplasm of cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0002734 anal mucinous adenocarcinoma 'anal mucinous adenocarcinoma' EquivalentTo 'mucinous carcinoma' and ('disease has location' some 'anus') 'anal mucinous adenocarcinoma' SubClassOf 'anus adenocarcinoma' 'anal mucinous adenocarcinoma' SubClassOf 'rectum mucinous adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002739 extrahepatic bile duct mucinous adenocarcinoma 'extrahepatic bile duct mucinous adenocarcinoma' EquivalentTo 'mucinous carcinoma' and ('disease has location' some 'extrahepatic bile duct') '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' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'anal canal') 'anal canal adenocarcinoma' SubClassOf 'anal canal carcinoma' 'anal canal adenocarcinoma' SubClassOf 'anus adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002736 ampulla of vater mucinous adenocarcinoma 'ampulla of vater mucinous adenocarcinoma' SubClassOf 'extrahepatic bile duct mucinous adenocarcinoma' 'ampulla of vater mucinous adenocarcinoma' SubClassOf 'ampulla of Vater adenocarcinoma' 'ampulla of vater mucinous adenocarcinoma' EquivalentTo 'mucinous carcinoma' and ('disease has location' some 'hepatopancreatic ampulla') 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 'acute disease' 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' EquivalentTo 'mucinous carcinoma' and ('disease has location' some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0002745 fallopian tube mucinous tumor 'fallopian tube mucinous tumor' EquivalentTo 'mucinous neoplasm' and ('disease has location' some 'fallopian tube') '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 'cervical mucinous adenocarcinoma' 'uterine ligament mucinous adenocarcinoma' EquivalentTo 'mucinous carcinoma' and ('disease has location' some 'uterine ligament') 'uterine ligament mucinous adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002741 uterine ligament adenocarcinoma 'uterine ligament adenocarcinoma' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'uterine ligament') 'uterine ligament adenocarcinoma' SubClassOf 'uterine ligament cancer' 'uterine ligament adenocarcinoma' SubClassOf 'cervical adenocarcinoma' http://purl.obolibrary.org/obo/GO_0033844 galactose-6-sulfurylase activity 'galactose-6-sulfurylase activity' SubClassOf 'catalytic activity' 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' EquivalentTo 'mucinous carcinoma' and ('disease has location' some 'rectum') http://purl.obolibrary.org/obo/MONDO_0002758 vulva verrucous carcinoma 'vulva verrucous carcinoma' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'mammalian vulva') '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' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'urinary bladder') 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' SubClassOf 'disease has location' some 'plantar part of pes' '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' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'larynx') 'larynx verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'larynx verrucous carcinoma' SubClassOf 'laryngeal squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002761 cervical verrucous carcinoma 'cervical verrucous carcinoma' SubClassOf 'papillary carcinoma of the cervix uteri' 'cervical verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'cervical verrucous carcinoma' SubClassOf 'cervical squamous cell carcinoma' 'cervical verrucous carcinoma' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'uterine cervix') http://purl.obolibrary.org/obo/MONDO_0002762 esophagus verrucous carcinoma 'esophagus verrucous carcinoma' SubClassOf 'esophageal squamous cell carcinoma' 'esophagus verrucous carcinoma' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'esophagus') 'esophagus verrucous carcinoma' SubClassOf 'verrucous carcinoma' http://purl.obolibrary.org/obo/MONDO_0002763 urethral verrucous carcinoma 'urethral verrucous carcinoma' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'urethra') 'urethral verrucous carcinoma' SubClassOf 'verrucous carcinoma' 'urethral verrucous carcinoma' SubClassOf 'urethra squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002772 intraventricular meningioma 'intraventricular meningioma' EquivalentTo 'meningioma' and ('disease has location' some 'brain ventricle') 'intraventricular meningioma' SubClassOf 'meningioma' 'intraventricular meningioma' SubClassOf 'malignant tumor of meninges' 'intraventricular meningioma' SubClassOf 'cerebral ventricle cancer' http://purl.obolibrary.org/obo/MONDO_0002779 central nervous system chondroma 'central nervous system chondroma' SubClassOf 'central nervous system organ benign neoplasm' 'central nervous system chondroma' SubClassOf 'Soft Tissue Chondroma' 'central nervous system chondroma' EquivalentTo 'chondroma' and ('disease has location' some 'central nervous system') http://purl.obolibrary.org/obo/HP_0005132 Pericardial constriction 'Pericardial constriction' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/MONDO_0002797 childhood medulloblastoma 'childhood medulloblastoma' SubClassOf 'medulloblastoma' 'childhood medulloblastoma' SubClassOf 'childhood cerebellar neoplasm' http://purl.obolibrary.org/obo/MONDO_0002794 adult medulloblastoma 'adult medulloblastoma' SubClassOf 'adult cerebellar neoplasm' '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' 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' http://purl.obolibrary.org/obo/GO_0018271 biotin-protein ligase activity 'biotin-protein ligase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0043217 myelin maintenance 'myelin maintenance' SubClassOf 'cellular component organization' http://purl.obolibrary.org/obo/MONDO_0002581 spindle cell rhabdomyosarcoma 'spindle cell rhabdomyosarcoma' SubClassOf 'spindle cell sarcoma' 'spindle cell rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002583 mucinous ovarian cystadenoma 'mucinous ovarian cystadenoma' EquivalentTo 'mucinous cystadenoma' and ('disease has location' some 'ovary') 'mucinous ovarian cystadenoma' SubClassOf 'mucinous cystadenoma' 'mucinous ovarian cystadenoma' SubClassOf 'simple cystadenoma' http://purl.obolibrary.org/obo/MONDO_0002592 invasive malignant thymoma 'invasive malignant thymoma' SubClassOf 'Thymic Carcinoma' 'invasive malignant thymoma' SubClassOf 'invasive carcinoma' 'invasive malignant thymoma' SubClassOf 'Thymoma' http://purl.obolibrary.org/obo/HP_0005508 Monoclonal immunoglobulin M proteinemia 'Monoclonal immunoglobulin M proteinemia' SubClassOf 'Paraproteinemia' http://purl.obolibrary.org/obo/UBERON_0016410 male breast 'male breast' SubClassOf 'breast' http://purl.obolibrary.org/obo/UBERON_0016490 auditory system 'auditory system' SubClassOf 'sensory system' http://purl.obolibrary.org/obo/MONDO_0002617 bone angiosarcoma 'bone angiosarcoma' SubClassOf 'angiosarcoma' 'bone angiosarcoma' SubClassOf 'vascular bone neoplasm' 'bone angiosarcoma' EquivalentTo 'angiosarcoma' and ('disease has location' some 'bone tissue') 'bone angiosarcoma' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002623 pediatric osteosarcoma 'pediatric osteosarcoma' SubClassOf 'childhood cancer' 'pediatric osteosarcoma' SubClassOf 'osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0002624 bone leiomyosarcoma 'bone leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'bone tissue') 'bone leiomyosarcoma' SubClassOf 'bone sarcoma' 'bone leiomyosarcoma' SubClassOf 'leiomyosarcoma' 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' EquivalentTo 'Ewing sarcoma' and ('disease has location' some 'bone tissue') 'Ewing sarcoma of bone' SubClassOf 'Ewing sarcoma' 'Ewing sarcoma of bone' SubClassOf 'hereditary disorder of connective tissue' 'Ewing sarcoma of bone' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002634 liposarcoma of bone 'liposarcoma of bone' EquivalentTo 'liposarcoma' and ('disease has location' some 'bone tissue') 'liposarcoma of bone' SubClassOf 'liposarcoma' 'liposarcoma of bone' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002645 cerebritis 'cerebritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'cerebral hemisphere') 'cerebritis' SubClassOf 'encephalomyelitis' 'cerebritis' SubClassOf 'brain disease' 'cerebritis' SubClassOf 'disease has inflammation site' some 'cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0002646 viral laryngitis 'viral laryngitis' SubClassOf 'acute laryngitis' 'viral laryngitis' SubClassOf 'viral respiratory tract infection' http://purl.obolibrary.org/obo/MONDO_0002642 trochlear nerve neoplasm 'trochlear nerve neoplasm' SubClassOf 'trochlear nerve disease' 'trochlear nerve neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'trochlear nerve') 'trochlear nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 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' EquivalentTo 'Paget disease' and ('disease has location' some 'breast') http://purl.obolibrary.org/obo/MONDO_0002649 scrotum Paget disease 'scrotum Paget disease' EquivalentTo 'Paget disease' and ('disease has location' some 'scrotum') 'scrotum Paget disease' SubClassOf 'scrotal carcinoma' 'scrotum Paget disease' SubClassOf 'Paget disease' http://purl.obolibrary.org/obo/MONDO_0002655 cutaneous Paget disease 'cutaneous Paget disease' EquivalentTo 'Paget disease' and ('disease has location' some 'zone of skin') 'cutaneous Paget disease' SubClassOf 'Paget disease' 'cutaneous Paget disease' SubClassOf 'skin carcinoma' http://purl.obolibrary.org/obo/MONDO_0002650 scrotal carcinoma 'scrotal carcinoma' EquivalentTo 'carcinoma' and ('disease has location' some 'scrotum') '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' EquivalentTo 'Paget disease' and ('disease has location' some 'anus') 'anal Paget disease' SubClassOf 'anus adenocarcinoma' 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' EquivalentTo 'Paget disease' and ('disease has location' some 'penis') 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' EquivalentTo 'signet ring cell carcinoma' and ('disease has location' some 'pancreas') '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' EquivalentTo 'signet ring cell carcinoma' and ('disease has location' some 'gallbladder') 'gallbladder signet ring cell adenocarcinoma' SubClassOf 'Gallbladder Adenocarcinoma' 'gallbladder signet ring cell adenocarcinoma' SubClassOf 'signet ring cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002676 adult fibrosarcoma 'adult fibrosarcoma' SubClassOf 'conventional fibrosarcoma' 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' EquivalentTo 'signet ring cell carcinoma' and ('disease has location' some 'prostate gland') 'acinar prostate adenocarcinoma, signet ring variant' SubClassOf 'signet ring cell carcinoma' 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' EquivalentTo 'signet ring cell carcinoma' and ('disease has location' some 'breast') http://purl.obolibrary.org/obo/MONDO_0002683 adult choroid plexus neoplasm 'adult choroid plexus neoplasm' SubClassOf 'choroid plexus neoplasm' http://purl.obolibrary.org/obo/MONDO_0002685 childhood choroid plexus carcinoma 'childhood choroid plexus carcinoma' SubClassOf 'choroid plexus carcinoma' 'childhood choroid plexus carcinoma' SubClassOf 'childhood cancer' 'childhood choroid plexus carcinoma' SubClassOf 'supratentorial cancer' 'childhood choroid plexus carcinoma' SubClassOf 'childhood choroid plexus neoplasm' http://purl.obolibrary.org/obo/MONDO_0002698 testicular gonadoblastoma 'testicular gonadoblastoma' SubClassOf 'testicular sex cord-stromal neoplasm' 'testicular gonadoblastoma' SubClassOf 'testicular carcinoma' 'testicular gonadoblastoma' EquivalentTo 'gonadoblastoma' and ('disease has location' some 'testis') 'testicular gonadoblastoma' SubClassOf 'gonadoblastoma' http://purl.obolibrary.org/obo/MONDO_0002697 ovarian gonadoblastoma 'ovarian gonadoblastoma' SubClassOf 'gonadoblastoma' 'ovarian gonadoblastoma' EquivalentTo 'gonadoblastoma' and ('disease has location' some 'ovary') 'ovarian gonadoblastoma' SubClassOf 'malignant sex cord stromal tumor of ovary' 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' EquivalentTo 'carcinoma ex pleomorphic adenoma' and ('disease has location' some 'lacrimal gland') http://purl.obolibrary.org/obo/UBERON_0006914 squamous epithelium 'squamous epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/MONDO_0002478 mixed germ cell-sex cord-stromal tumor 'mixed germ cell-sex cord-stromal tumor' SubClassOf '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' EquivalentTo 'neuroendocrine neoplasm' and ('disease has location' some 'breast') 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' EquivalentTo 'Granular Cell Tumor' and ('disease has location' some 'breast') http://purl.obolibrary.org/obo/MONDO_0002483 breast myoepithelial tumor 'breast myoepithelial tumor' SubClassOf 'breast neoplasm' 'breast myoepithelial tumor' EquivalentTo 'myoepithelial tumor' and ('disease has location' some 'breast') 'breast myoepithelial tumor' SubClassOf 'myoepithelial tumor' http://purl.obolibrary.org/obo/GO_0043020 NADPH oxidase complex 'NADPH oxidase complex' SubClassOf 'part of' some 'plasma membrane' 'NADPH oxidase complex' SubClassOf 'cellular_component' 'NADPH oxidase complex' SubClassOf 'part of' some 'membrane' http://purl.obolibrary.org/obo/MONDO_0002495 colon signet ring cell adenocarcinoma 'colon signet ring cell adenocarcinoma' SubClassOf 'colorectal signet ring cell carcinoma' 'colon signet ring cell adenocarcinoma' SubClassOf 'colon adenocarcinoma' 'colon signet ring cell adenocarcinoma' EquivalentTo 'signet ring cell carcinoma' and ('disease has location' some 'colon') http://purl.obolibrary.org/obo/GO_0008614 pyridoxine metabolic process 'pyridoxine metabolic process' SubClassOf 'cellular aromatic compound metabolic process' 'pyridoxine metabolic process' SubClassOf 'vitamin metabolic process' 'pyridoxine metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'pyridoxine metabolic process' SubClassOf 'cellular nitrogen compound metabolic process' 'pyridoxine metabolic process' SubClassOf 'heterocycle 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' 'ether lipid biosynthetic process' SubClassOf 'cellular biosynthetic process' 'ether lipid biosynthetic process' SubClassOf 'lipid metabolic process' http://purl.obolibrary.org/obo/GO_0008643 carbohydrate transport 'carbohydrate transport' SubClassOf 'transport' http://purl.obolibrary.org/obo/MONDO_0002503 adult astrocytic tumor 'adult astrocytic tumor' SubClassOf 'astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0002505 childhood astrocytic tumor 'childhood astrocytic tumor' SubClassOf 'childhood neoplasm' 'childhood astrocytic tumor' SubClassOf 'astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0002518 gallbladder papillary neoplasm 'gallbladder papillary neoplasm' SubClassOf 'gallbladder neoplasm' 'gallbladder papillary neoplasm' EquivalentTo 'papillary epithelial neoplasm' and ('disease has location' some 'gallbladder') 'gallbladder papillary neoplasm' SubClassOf 'papillary epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002534 fallopian tube papilloma 'fallopian tube papilloma' SubClassOf 'fallopian tube benign neoplasm' 'fallopian tube papilloma' EquivalentTo 'papilloma' and ('disease has location' some 'fallopian tube') 'fallopian tube papilloma' SubClassOf 'papilloma' http://purl.obolibrary.org/obo/MONDO_0002536 skin papilloma 'skin papilloma' SubClassOf 'papilloma' 'skin papilloma' SubClassOf 'benign epithelial skin neoplasm' 'skin papilloma' EquivalentTo 'papilloma' and ('disease has location' some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0002544 brain oligodendroglioma 'brain oligodendroglioma' SubClassOf 'oligodendroglioma' 'brain oligodendroglioma' SubClassOf 'brain glioma' 'brain oligodendroglioma' EquivalentTo 'oligodendroglioma' and ('disease has location' some 'brain') http://purl.obolibrary.org/obo/MONDO_0002540 childhood oligodendroglioma 'childhood oligodendroglioma' SubClassOf 'oligodendroglioma' 'childhood oligodendroglioma' SubClassOf 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0002541 spinal cord oligodendroglioma 'spinal cord oligodendroglioma' SubClassOf 'oligodendroglioma' 'spinal cord oligodendroglioma' EquivalentTo 'oligodendroglioma' and ('disease has location' some 'spinal cord') 'spinal cord oligodendroglioma' SubClassOf 'spinal cord glioma' http://purl.obolibrary.org/obo/MONDO_0002543 adult oligodendroglioma 'adult oligodendroglioma' SubClassOf 'oligodendroglioma' http://purl.obolibrary.org/obo/MONDO_0002555 trigeminal schwannoma 'trigeminal schwannoma' SubClassOf 'trigeminal nerve neoplasm' 'trigeminal schwannoma' SubClassOf 'schwannoma' 'trigeminal schwannoma' EquivalentTo 'schwannoma' and ('disease has location' some 'trigeminal nerve') http://purl.obolibrary.org/obo/MONDO_0002577 extrahepatic bile duct rhabdomyosarcoma 'extrahepatic bile duct rhabdomyosarcoma' SubClassOf 'liver rhabdomyosarcoma' 'extrahepatic bile duct rhabdomyosarcoma' SubClassOf 'extrahepatic bile duct sarcoma' 'extrahepatic bile duct rhabdomyosarcoma' EquivalentTo 'rhabdomyosarcoma' and ('disease has location' some 'extrahepatic bile duct') http://purl.obolibrary.org/obo/MONDO_0002574 prostate embryonal rhabdomyosarcoma 'prostate embryonal rhabdomyosarcoma' EquivalentTo 'embryonal rhabdomyosarcoma' and ('disease has location' some 'prostate gland') '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' EquivalentTo 'embryonal rhabdomyosarcoma' and ('disease has location' some 'extrahepatic bile duct') http://purl.obolibrary.org/obo/UBERON_0001130 vertebral column 'vertebral column' SubClassOf 'part of' some 'skeletal system' 'vertebral column' SubClassOf 'skeleton structure' 'vertebral column' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0001133 cardiac muscle tissue 'cardiac muscle tissue' SubClassOf 'muscle tissue' 'cardiac muscle tissue' DisjointWith 'skeletal muscle tissue' http://purl.obolibrary.org/obo/UBERON_0001199 mucosa of stomach 'mucosa of stomach' EquivalentTo 'mucosa' and ('part of' some 'stomach') 'mucosa of stomach' SubClassOf 'part of' some 'stomach' 'mucosa of stomach' SubClassOf 'part of' some 'wall of stomach' 'mucosa of stomach' SubClassOf 'gastrointestinal system mucosa' http://purl.obolibrary.org/obo/GO_0070561 vitamin D receptor signaling pathway 'vitamin D receptor signaling pathway' SubClassOf 'signal transduction' http://purl.obolibrary.org/obo/UBERON_0001162 cardia of stomach 'cardia of stomach' SubClassOf 'part of' some 'digestive tract' 'cardia of stomach' SubClassOf 'part of' some 'stomach' 'cardia of stomach' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001167 wall of stomach 'wall of stomach' SubClassOf 'part of' some 'digestive tract' 'wall of stomach' SubClassOf 'part of' some 'stomach' 'wall of stomach' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0007223 brachydactyly type E1 'brachydactyly type E1' SubClassOf 'brachydactyly type E' http://purl.obolibrary.org/obo/UBERON_0001173 biliary tree 'biliary tree' SubClassOf 'part of' some 'digestive system' 'biliary tree' SubClassOf 'part of' some 'biliary system' 'biliary tree' SubClassOf 'part of' some 'anatomical system' 'biliary tree' SubClassOf 'anatomical structure' 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' http://purl.obolibrary.org/obo/MONDO_0957018 autoinflammatory syndrome of childhood 'autoinflammatory syndrome of childhood' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/HP_0030682 Left ventricular noncompaction 'Left ventricular noncompaction' SubClassOf 'Abnormal morphology of left ventricular trabeculae' http://purl.obolibrary.org/obo/GO_0045453 bone resorption 'bone resorption' SubClassOf 'part of' some 'bone remodeling' 'bone resorption' SubClassOf 'multicellular organismal process' 'bone resorption' SubClassOf 'homeostatic process' http://purl.obolibrary.org/obo/MONDO_0850302 intracranial meningioma 'intracranial meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/UBERON_0001027 sensory nerve 'sensory nerve' SubClassOf 'nerve' http://purl.obolibrary.org/obo/MONDO_0007108 anal canal carcinoma 'anal canal carcinoma' EquivalentTo 'carcinoma' and ('disease has location' some 'anal canal') '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_0022755 chromosome 18 mosaic monosomy 'chromosome 18 mosaic monosomy' SubClassOf 'chromosome 18 disorder' 'chromosome 18 mosaic monosomy' SubClassOf 'monosomy' http://purl.obolibrary.org/obo/MONDO_0022758 chromosome 22, monosome mosaic 'chromosome 22, monosome mosaic' SubClassOf 'monosomy 22' http://purl.obolibrary.org/obo/MONDO_0007129 tooth agenesis, selective, 1 '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' http://purl.obolibrary.org/obo/HP_0005541 Congenital agranulocytosis 'Congenital agranulocytosis' SubClassOf 'Agranulocytosis' http://purl.obolibrary.org/obo/HP_0005912 Biliary atresia 'Biliary atresia' SubClassOf 'Abnormal biliary tract morphology' http://purl.obolibrary.org/obo/GO_0070330 aromatase activity 'aromatase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0022642 childhood carcinoid tumor 'childhood carcinoid tumor' SubClassOf 'carcinoid tumor' 'childhood carcinoid tumor' SubClassOf 'childhood neoplasm' http://purl.obolibrary.org/obo/MONDO_0022643 carcinoma of the vocal tract 'carcinoma of the vocal tract' SubClassOf 'glottis carcinoma' 'carcinoma of the vocal tract' EquivalentTo 'carcinoma' and ('disease has location' some 'laryngeal vocal fold') 'carcinoma of the vocal tract' SubClassOf 'disease has location' some 'laryngeal vocal fold' http://purl.obolibrary.org/obo/GO_0070293 renal absorption 'renal absorption' SubClassOf 'renal system process' http://purl.obolibrary.org/obo/MONDO_0022672 autosomal dominant cataract 'autosomal dominant cataract' SubClassOf 'syndromic disease' 'autosomal dominant cataract' SubClassOf 'autosomal dominant disease' 'autosomal dominant cataract' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0007033 abducens nerve palsy 'abducens nerve palsy' EquivalentTo 'cranial nerve palsy' and ('disease has location' some 'abducens nerve') 'abducens nerve palsy' SubClassOf 'abducens nerve disorder' 'abducens nerve palsy' SubClassOf 'cranial nerve palsy' http://purl.obolibrary.org/obo/HP_0030852 High pulse pressure 'High pulse pressure' SubClassOf 'Abnormality of the vasculature' 'High pulse pressure' SubClassOf 'Abnormal cardiovascular system physiology' http://purl.obolibrary.org/obo/UBERON_0015410 heart plus pericardium 'heart plus pericardium' SubClassOf 'part of' some 'thoracic segment of trunk' 'heart plus pericardium' SubClassOf 'viscus' 'heart plus pericardium' SubClassOf 'part of' some 'cardiovascular system' 'heart plus pericardium' SubClassOf 'part of' some 'anatomical system' 'heart plus pericardium' SubClassOf 'part of' some 'trunk' http://purl.obolibrary.org/obo/GO_0035898 parathyroid hormone secretion 'parathyroid hormone secretion' SubClassOf 'hormone secretion' 'parathyroid hormone secretion' SubClassOf 'part of' some 'endocrine process' http://purl.obolibrary.org/obo/GO_0045254 pyruvate dehydrogenase complex 'pyruvate dehydrogenase complex' SubClassOf 'cellular_component' http://purl.obolibrary.org/obo/GO_0070224 sulfide:quinone oxidoreductase activity 'sulfide:quinone oxidoreductase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/HP_0030824 Mizuo phenomenon 'Mizuo phenomenon' SubClassOf 'Abnormal posterior eye segment morphology' http://purl.obolibrary.org/obo/HP_0030828 Wheezing 'Wheezing' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/HP_0005832 Dysharmonic delayed bone age 'Dysharmonic delayed bone age' SubClassOf 'Delayed skeletal maturation' http://purl.obolibrary.org/obo/MONDO_0022518 autoimmune inner ear disease 'autoimmune inner ear disease' SubClassOf 'autoimmune disorder of the nervous system' 'autoimmune inner ear disease' SubClassOf 'inner ear disease' 'autoimmune inner ear disease' EquivalentTo 'inner ear disease' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune inner ear disease' SubClassOf 'autoimmune disease of ear, nose and throat' http://purl.obolibrary.org/obo/MONDO_0022519 autoimmune myocarditis 'autoimmune myocarditis' SubClassOf 'autoimmune cardiomyopathy' 'autoimmune myocarditis' EquivalentTo 'myocarditis' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/MONDO_0022538 leukoplakia of gingiva 'leukoplakia of gingiva' SubClassOf 'gingival disease' 'leukoplakia of gingiva' EquivalentTo 'oral mucosa leukoplakia' and ('disease has location' some 'gingiva') 'leukoplakia of gingiva' SubClassOf 'oral mucosa leukoplakia' http://purl.obolibrary.org/obo/HP_0030718 Right atrial enlargement 'Right atrial enlargement' SubClassOf 'Abnormal cardiac atrium morphology' http://purl.obolibrary.org/obo/MONDO_0022560 benign metastasizing leiomyoma 'benign metastasizing leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/GO_0035773 insulin secretion involved in cellular response to glucose stimulus 'insulin secretion involved in cellular response to glucose stimulus' SubClassOf 'establishment of localization in cell' 'insulin secretion involved in cellular response to glucose stimulus' SubClassOf 'insulin secretion' http://purl.obolibrary.org/obo/UBERON_0001542 inguinal lymph node 'inguinal lymph node' SubClassOf 'part of' some 'trunk' 'inguinal lymph node' SubClassOf 'lymph node' 'inguinal lymph node' SubClassOf 'part of' some 'anatomical system' 'inguinal lymph node' SubClassOf 'part of' some 'inguinal part of abdomen' 'inguinal lymph node' EquivalentTo 'lymph node' and ('part of' some 'inguinal part of abdomen') http://purl.obolibrary.org/obo/UBERON_0001556 lower urinary tract 'lower urinary tract' SubClassOf 'anatomical structure' 'lower urinary tract' SubClassOf 'part of' some 'anatomical system' 'lower urinary tract' SubClassOf 'part of' some 'renal system' http://purl.obolibrary.org/obo/UBERON_0001557 upper respiratory tract 'upper respiratory tract' SubClassOf 'anatomical structure' 'upper respiratory tract' SubClassOf 'part of' some 'respiratory tract' http://purl.obolibrary.org/obo/UBERON_0001558 lower respiratory tract 'lower respiratory tract' SubClassOf 'part of' some 'respiratory tract' 'lower respiratory tract' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001555 digestive tract 'digestive tract' SubClassOf 'anatomical structure' 'digestive tract' SubClassOf 'part of' some 'digestive system' http://purl.obolibrary.org/obo/UBERON_0001579 olfactory nerve 'olfactory nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/GO_0070075 tear secretion 'tear secretion' SubClassOf 'transport' 'tear secretion' SubClassOf 'multicellular organismal process' http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy 'retinal ciliopathy' SubClassOf 'hereditary neurological disease' 'retinal ciliopathy' SubClassOf 'ciliopathy' 'retinal ciliopathy' SubClassOf 'retinopathy' 'retinal ciliopathy' EquivalentTo 'ciliopathy' and ('disease has location' some 'retina') http://purl.obolibrary.org/obo/MONDO_0022454 angiosarcoma of the scalp 'angiosarcoma of the scalp' SubClassOf 'head and neck malignant neoplasia' 'angiosarcoma of the scalp' SubClassOf 'angiosarcoma' 'angiosarcoma of the scalp' SubClassOf 'disease has location' some 'scalp' 'angiosarcoma of the scalp' EquivalentTo 'angiosarcoma' and ('disease has location' some 'scalp') http://purl.obolibrary.org/obo/UBERON_0001629 carotid body 'carotid body' SubClassOf 'part of' some 'anatomical system' 'carotid body' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001632 temporal artery 'temporal artery' SubClassOf 'part of' some 'head' 'temporal artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/UBERON_0001648 vestibulocochlear nerve 'vestibulocochlear nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001644 trochlear nerve 'trochlear nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001646 abducens nerve 'abducens nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001647 facial nerve 'facial nerve' SubClassOf 'part of' some 'gustatory system' 'facial nerve' SubClassOf 'craniofacial tissue' 'facial nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/UBERON_0001643 oculomotor nerve 'oculomotor nerve' SubClassOf 'cranial nerve' http://purl.obolibrary.org/obo/MONDO_0957408 type 1 interferonopathy of childhood 'type 1 interferonopathy of childhood' SubClassOf 'type 1 interferonopathy' 'type 1 interferonopathy of childhood' SubClassOf 'autoinflammatory syndrome of childhood' http://purl.obolibrary.org/obo/UBERON_0001468 intervertebral joint 'intervertebral joint' SubClassOf 'skeletal joint' 'intervertebral joint' SubClassOf 'part of' some 'vertebral column' http://purl.obolibrary.org/obo/UBERON_0001490 elbow joint 'elbow joint' SubClassOf 'part of' some 'forelimb' 'elbow joint' SubClassOf 'part of' some 'elbow' 'elbow joint' SubClassOf 'skeletal joint' 'elbow joint' SubClassOf 'part of' some 'limb' http://purl.obolibrary.org/obo/UBERON_0001492 radial nerve 'radial nerve' SubClassOf 'nerve' 'radial nerve' SubClassOf 'part of' some 'arm' 'radial nerve' SubClassOf 'part of' some 'forelimb' 'radial nerve' SubClassOf 'part of' some 'limb' 'radial nerve' SubClassOf 'part of' some 'brachial nerve plexus' http://purl.obolibrary.org/obo/UBERON_0001494 ulnar nerve 'ulnar nerve' SubClassOf 'part of' some 'brachial nerve plexus' 'ulnar nerve' SubClassOf 'part of' some 'forelimb' 'ulnar nerve' SubClassOf 'nerve' 'ulnar nerve' SubClassOf 'part of' some 'arm' 'ulnar nerve' SubClassOf 'part of' some 'limb' http://purl.obolibrary.org/obo/UBERON_0001424 ulna 'ulna' SubClassOf 'part of' some 'arm' 'ulna' SubClassOf 'part of' some 'forelimb zeugopod' 'ulna' SubClassOf 'part of' some 'limb' 'ulna' SubClassOf 'part of' some 'forelimb' 'ulna' SubClassOf 'long bone' 'ulna' SubClassOf 'part of' some 'appendicular skeleton' 'ulna' SubClassOf 'limb bone' http://purl.obolibrary.org/obo/UBERON_0001457 skin of eyelid 'skin of eyelid' SubClassOf 'part of' some 'craniocervical region' 'skin of eyelid' SubClassOf 'part of' some 'face' 'skin of eyelid' SubClassOf 'zone of skin' 'skin of eyelid' SubClassOf 'part of' some 'head' 'skin of eyelid' EquivalentTo 'zone of skin' and ('part of' some 'eyelid') 'skin of eyelid' SubClassOf 'part of' some 'eyelid' http://purl.obolibrary.org/obo/UBERON_0001456 face 'face' SubClassOf 'part of' some 'head' 'face' SubClassOf 'part of' some 'multicellular organism' 'face' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/GO_0045061 thymic T cell selection 'thymic T cell selection' SubClassOf 'immune system process' 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' http://purl.obolibrary.org/obo/GO_0045087 innate immune response 'innate immune response' SubClassOf 'response to stress' 'innate immune response' SubClassOf 'biological process involved in interspecies interaction between organisms' 'innate immune response' SubClassOf 'immune system process' http://purl.obolibrary.org/obo/MONDO_0012945 amyotrophic lateral sclerosis type 11 'amyotrophic lateral sclerosis type 11' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0036915 benign ovarian mucinous tumor 'benign ovarian mucinous tumor' SubClassOf 'ovarian mucinous neoplasm' 'benign ovarian mucinous tumor' SubClassOf 'benign epithelial neoplasm' 'benign ovarian mucinous tumor' SubClassOf 'Benign Ovarian Neoplasm' 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 'hereditary neoplastic syndrome' 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' http://purl.obolibrary.org/obo/MONDO_0012960 intellectual disability, autosomal dominant 5 'intellectual disability, autosomal dominant 5' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0012977 autosomal recessive nonsyndromic hearing loss 1B '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' http://purl.obolibrary.org/obo/MONDO_0012981 hereditary spherocytosis type 4 'hereditary spherocytosis type 4' SubClassOf 'hereditary spherocytosis' http://purl.obolibrary.org/obo/MONDO_0012983 cone-rod dystrophy 12 'cone-rod dystrophy 12' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0957553 Houge-Janssens syndrome '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 'sex cord-stromal benign neoplasm' http://purl.obolibrary.org/obo/UBERON_0001304 germinal epithelium of ovary 'germinal epithelium of ovary' SubClassOf 'part of' some 'reproductive system' 'germinal epithelium of ovary' SubClassOf 'part of' some 'gonad' 'germinal epithelium of ovary' SubClassOf 'part of' some 'ovary' 'germinal epithelium of ovary' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0001300 scrotum 'scrotum' SubClassOf 'anatomical structure' 'scrotum' SubClassOf 'part of' some 'reproductive system' http://purl.obolibrary.org/obo/UBERON_0001333 male urethra 'male urethra' SubClassOf 'urethra' http://purl.obolibrary.org/obo/UBERON_0001331 skin of penis 'skin of penis' SubClassOf 'zone of skin' 'skin of penis' EquivalentTo 'zone of skin' and ('part of' some 'penis') 'skin of penis' SubClassOf 'part of' some 'reproductive system' 'skin of penis' SubClassOf 'part of' some 'penis' http://purl.obolibrary.org/obo/HP_0001159 Syndactyly 'Syndactyly' SubClassOf 'Abnormal digit morphology' http://purl.obolibrary.org/obo/HP_0001156 Brachydactyly 'Brachydactyly' SubClassOf 'Abnormal digit morphology' http://purl.obolibrary.org/obo/MONDO_0012801 autism, susceptibility to, 15 'autism, susceptibility to, 15' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/HP_0001114 Xanthelasma 'Xanthelasma' SubClassOf 'Abnormality of the face' 'Xanthelasma' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0001097 Keratoconjunctivitis sicca 'Keratoconjunctivitis sicca' SubClassOf 'Conjunctivitis' 'Keratoconjunctivitis sicca' SubClassOf 'Keratitis' 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 'inherited disease susceptibility' http://purl.obolibrary.org/obo/HP_0025085 Bloody diarrhea 'Bloody diarrhea' SubClassOf 'Diarrhea' http://purl.obolibrary.org/obo/HP_0001051 Seborrheic dermatitis 'Seborrheic dermatitis' SubClassOf 'Eczematoid dermatitis' 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 'long QT syndrome 5' http://purl.obolibrary.org/obo/UBERON_0001245 anus 'anus' SubClassOf 'anatomical structure' 'anus' SubClassOf 'part of' some 'digestive tract' http://purl.obolibrary.org/obo/UBERON_0001242 intestinal mucosa 'intestinal mucosa' SubClassOf 'part of' some 'intestine' 'intestinal mucosa' EquivalentTo 'mucosa' and ('part of' some 'intestine') 'intestinal mucosa' SubClassOf 'gastrointestinal system mucosa' http://purl.obolibrary.org/obo/UBERON_0001207 mucosa of large intestine 'mucosa of large intestine' SubClassOf 'part of' some 'large intestine' 'mucosa of large intestine' SubClassOf 'part of' some 'intestinal mucosa' 'mucosa of large intestine' SubClassOf 'intestinal mucosa' 'mucosa of large intestine' EquivalentTo 'mucosa' and ('part of' some 'large intestine') http://purl.obolibrary.org/obo/HP_0001022 Albinism 'Albinism' SubClassOf 'Hypopigmentation of the skin' http://purl.obolibrary.org/obo/UBERON_0001267 femoral nerve 'femoral nerve' SubClassOf 'part of' some 'limb' 'femoral nerve' SubClassOf 'part of' some 'hindlimb' 'femoral nerve' SubClassOf 'nerve' 'femoral nerve' SubClassOf 'part of' some 'leg' http://purl.obolibrary.org/obo/HP_0001004 Lymphedema 'Lymphedema' SubClassOf 'Edema' http://purl.obolibrary.org/obo/UBERON_0001299 glans penis 'glans penis' SubClassOf 'part of' some 'penis' 'glans penis' SubClassOf 'anatomical structure' 'glans penis' SubClassOf 'part of' some 'reproductive system' http://purl.obolibrary.org/obo/MONDO_0012709 microphthalmia, isolated, with coloboma 5 'microphthalmia, isolated, with coloboma 5' SubClassOf 'microphthalmia, isolated, with coloboma' 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 'retinal ciliopathy' http://purl.obolibrary.org/obo/MONDO_0012736 long QT syndrome 9 'long QT syndrome 9' SubClassOf 'familial long QT syndrome' 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' http://purl.obolibrary.org/obo/MONDO_0012742 Brugada syndrome 3 'Brugada syndrome 3' SubClassOf 'Brugada syndrome' http://purl.obolibrary.org/obo/GO_0098975 postsynapse of neuromuscular junction 'postsynapse of neuromuscular junction' SubClassOf 'part of' some 'neuromuscular junction' 'postsynapse of neuromuscular junction' SubClassOf 'postsynapse' http://purl.obolibrary.org/obo/MONDO_0012767 age related macular degeneration 11 'age related macular degeneration 11' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0022103 chronic prostatitis 'chronic prostatitis' SubClassOf 'prostatitis' http://purl.obolibrary.org/obo/MONDO_0012796 retinitis pigmentosa 41 'retinitis pigmentosa 41' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/GO_0050905 neuromuscular process 'neuromuscular process' SubClassOf 'system process' http://purl.obolibrary.org/obo/GO_0050957 equilibrioception 'equilibrioception' SubClassOf 'sensory perception' http://purl.obolibrary.org/obo/HP_0001370 Rheumatoid arthritis 'Rheumatoid arthritis' SubClassOf 'Arthritis' http://purl.obolibrary.org/obo/HP_0001384 Abnormal hip joint morphology 'Abnormal hip joint morphology' SubClassOf 'Abnormal skeletal morphology' 'Abnormal hip joint morphology' SubClassOf 'Abnormality of the lower limb' http://purl.obolibrary.org/obo/HP_0001396 Cholestasis 'Cholestasis' SubClassOf 'Abnormality of the liver' http://purl.obolibrary.org/obo/HP_0001394 Cirrhosis 'Cirrhosis' SubClassOf 'Abnormality of the liver' http://purl.obolibrary.org/obo/GO_0060348 bone development 'bone development' SubClassOf 'animal organ development' http://purl.obolibrary.org/obo/HP_0001339 Lissencephaly 'Lissencephaly' SubClassOf 'Abnormal cortical gyration' http://purl.obolibrary.org/obo/MONDO_0042451 endomyometritis 'endomyometritis' SubClassOf 'Endometritis' 'endomyometritis' SubClassOf 'adenomyosis' 'endomyometritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'endometrium') and ('disease has inflammation site' some 'myometrium') 'endomyometritis' SubClassOf 'pyometritis' http://purl.obolibrary.org/obo/MONDO_0042433 mycotic endocarditis 'mycotic endocarditis' SubClassOf 'infective endocarditis' 'mycotic endocarditis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/HP_0001369 Arthritis 'Arthritis' SubClassOf 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/MONDO_0042491 cervical squamous intraepithelial neoplasia 'cervical squamous intraepithelial neoplasia' EquivalentTo 'squamous cell intraepithelial neoplasia' and ('disease has location' some 'uterine cervix') 'cervical squamous intraepithelial neoplasia' SubClassOf 'squamous cell intraepithelial neoplasia' 'cervical squamous intraepithelial neoplasia' SubClassOf 'cervical intraepithelial neoplasia' 'cervical squamous intraepithelial neoplasia' SubClassOf 'uterine cervix neoplasm' http://purl.obolibrary.org/obo/MONDO_0042497 mycotoxicosis 'mycotoxicosis' SubClassOf 'fungal infectious disease' 'mycotoxicosis' SubClassOf 'poisoning' http://purl.obolibrary.org/obo/MONDO_0042494 childhood malignant melanoma 'childhood malignant melanoma' SubClassOf 'childhood cancer' 'childhood malignant melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/MONDO_0042495 arteriosclerotic retinopathy 'arteriosclerotic retinopathy' EquivalentTo 'arteriosclerosis disorder' and ('disease has location' some 'retina') 'arteriosclerotic retinopathy' SubClassOf 'arteriosclerosis disorder' 'arteriosclerotic retinopathy' SubClassOf 'retinal vascular disorder' 'arteriosclerotic retinopathy' SubClassOf 'disease has location' some 'arteriole' http://purl.obolibrary.org/obo/HP_0001297 Stroke 'Stroke' SubClassOf 'Abnormal cerebral vascular morphology' http://purl.obolibrary.org/obo/HP_0025278 Cold-induced sweating 'Cold-induced sweating' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/GO_0001806 type IV hypersensitivity 'type IV hypersensitivity' SubClassOf 'hypersensitivity' http://purl.obolibrary.org/obo/GO_0001802 type III hypersensitivity 'type III hypersensitivity' SubClassOf 'hypersensitivity' http://purl.obolibrary.org/obo/MONDO_0007963 melanoma, cutaneous malignant, susceptibility to, 1 'melanoma, cutaneous malignant, susceptibility to, 1' SubClassOf 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/HP_0001254 Lethargy 'Lethargy' SubClassOf 'Atypical behavior' http://purl.obolibrary.org/obo/HP_0001289 Confusion 'Confusion' SubClassOf 'Cognitive impairment' http://purl.obolibrary.org/obo/HP_0001287 Meningitis 'Meningitis' SubClassOf 'Morphological central nervous system abnormality' 'Meningitis' SubClassOf 'Abnormality of the immune system' http://purl.obolibrary.org/obo/MONDO_0017344 Epstein-Barr virus-associated carcinoma 'Epstein-Barr virus-associated carcinoma' SubClassOf 'Epstein-Barr virus-related tumor' http://purl.obolibrary.org/obo/GO_0050886 endocrine process 'endocrine process' SubClassOf 'system process' http://purl.obolibrary.org/obo/MONDO_0017381 congenital herpes simplex virus infection 'congenital herpes simplex virus infection' SubClassOf 'congenital herpes virus infection' 'congenital herpes simplex virus infection' SubClassOf 'Herpes simplex infection' http://purl.obolibrary.org/obo/GO_0050892 intestinal absorption 'intestinal absorption' SubClassOf 'part of' some 'digestion' 'intestinal absorption' SubClassOf 'system process' http://purl.obolibrary.org/obo/UBERON_0001908 optic tract 'optic tract' SubClassOf 'part of' some 'nervous system' 'optic tract' SubClassOf 'anatomical structure' 'optic tract' SubClassOf 'part of' some 'brain' 'optic tract' SubClassOf 'part of' some 'central nervous system' 'optic tract' SubClassOf 'part of' some 'diencephalon' 'optic tract' SubClassOf 'part of' some 'visual system' http://purl.obolibrary.org/obo/UBERON_0001912 lobule of mammary gland 'lobule of mammary gland' SubClassOf 'anatomical structure' 'lobule of mammary gland' SubClassOf 'part of' some 'mammary gland' http://purl.obolibrary.org/obo/GO_0098794 postsynapse 'postsynapse' SubClassOf 'cellular_component' 'postsynapse' SubClassOf 'part of' some 'synapse' http://purl.obolibrary.org/obo/HP_0025132 Abnormal circulating estrogen level 'Abnormal circulating estrogen level' SubClassOf 'Abnormal circulating hormone concentration' http://purl.obolibrary.org/obo/UBERON_0001980 arteriole 'arteriole' SubClassOf 'part of' some 'vasculature' 'arteriole' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/UBERON_0001994 hyaline cartilage tissue 'hyaline cartilage tissue' SubClassOf 'part of' some 'musculoskeletal system' 'hyaline cartilage tissue' SubClassOf 'part of' some 'skeletal element' 'hyaline cartilage tissue' SubClassOf 'connective tissue' 'hyaline cartilage tissue' SubClassOf 'skeleton structure' http://purl.obolibrary.org/obo/UBERON_0001951 epithelium of nasopharynx 'epithelium of nasopharynx' SubClassOf 'epithelium' 'epithelium of nasopharynx' SubClassOf 'part of' some 'nasopharynx' 'epithelium of nasopharynx' SubClassOf 'part of' some 'respiratory tract' 'epithelium of nasopharynx' SubClassOf 'part of' some 'chordate pharynx' 'epithelium of nasopharynx' SubClassOf 'part of' some 'digestive tract' 'epithelium of nasopharynx' SubClassOf 'part of' some 'upper respiratory tract' 'epithelium of nasopharynx' EquivalentTo 'epithelium' and ('part of' some 'nasopharynx') 'epithelium of nasopharynx' SubClassOf 'part of' some 'respiratory system' http://purl.obolibrary.org/obo/UBERON_0001961 mucosa-associated lymphoid tissue 'mucosa-associated lymphoid tissue' SubClassOf 'lymphoid tissue' http://purl.obolibrary.org/obo/GO_0001867 complement activation, lectin pathway 'complement activation, lectin pathway' SubClassOf 'innate immune response' 'complement activation, lectin pathway' SubClassOf 'complement activation' http://purl.obolibrary.org/obo/UBERON_0011156 facial skeleton 'facial skeleton' SubClassOf 'part of' some 'skeletal system' 'facial skeleton' SubClassOf 'part of' some 'skull' 'facial skeleton' SubClassOf 'skeleton structure' 'facial skeleton' SubClassOf 'part of' some 'face' 'facial skeleton' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/MONDO_0007805 hypotrichosis 2 'hypotrichosis 2' SubClassOf 'hypotrichosis' 'hypotrichosis 2' SubClassOf 'hypotrichosis simplex of the scalp' http://purl.obolibrary.org/obo/UBERON_0011166 patellofemoral joint 'patellofemoral joint' SubClassOf 'part of' some 'knee joint' 'patellofemoral joint' SubClassOf 'skeletal joint' 'patellofemoral joint' SubClassOf 'part of' some 'limb' 'patellofemoral joint' SubClassOf 'joint component' 'patellofemoral joint' SubClassOf 'part of' some 'hindlimb' http://purl.obolibrary.org/obo/UBERON_0001785 cranial nerve 'cranial nerve' SubClassOf 'nerve' 'cranial nerve' SubClassOf 'part of' some 'head' 'cranial nerve' SubClassOf 'cranial neuron projection bundle' http://purl.obolibrary.org/obo/UBERON_0001798 vitreous body 'vitreous body' SubClassOf 'connective tissue' 'vitreous body' SubClassOf 'part of' some 'head' http://purl.obolibrary.org/obo/UBERON_0001797 vitreous humor 'vitreous humor' SubClassOf 'anatomical entity' 'vitreous humor' SubClassOf 'part of' some 'vitreous body' 'vitreous humor' SubClassOf 'part of' some 'camera-type eye' 'vitreous humor' SubClassOf 'part of' some 'multicellular organism' http://purl.obolibrary.org/obo/MONDO_0007851 keratoconus 1 'keratoconus 1' SubClassOf 'keratoconus' http://purl.obolibrary.org/obo/MONDO_0007850 autosomal dominant keratitis-ichthyosis-hearing loss syndrome 'autosomal dominant keratitis-ichthyosis-hearing loss syndrome' SubClassOf 'KID syndrome' 'autosomal dominant keratitis-ichthyosis-hearing loss syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/HP_0001513 Obesity 'Obesity' SubClassOf 'Increased body weight' http://purl.obolibrary.org/obo/MONDO_0056805 benign peripheral nerve granular cell tumor 'benign peripheral nerve granular cell tumor' EquivalentTo 'benign granular cell tumor' and ('disease has location' some 'nerve') 'benign peripheral nerve granular cell tumor' SubClassOf 'benign granular cell tumor' 'benign peripheral nerve granular cell tumor' SubClassOf 'disease has location' some 'nerve' 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' EquivalentTo 'neuroendocrine carcinoma' and ('disease has location' some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0056817 rectal adenosquamous carcinoma 'rectal adenosquamous carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and ('disease has location' some 'rectum') 'rectal adenosquamous carcinoma' SubClassOf 'Colorectal Adenosquamous Carcinoma' 'rectal adenosquamous carcinoma' SubClassOf 'squamous cell carcinoma of rectum' http://purl.obolibrary.org/obo/MONDO_0056818 skin adenosquamous carcinoma 'skin adenosquamous carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and ('disease has location' some 'zone of skin') 'skin adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'skin adenosquamous carcinoma' SubClassOf 'skin squamous cell carcinoma' 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' http://purl.obolibrary.org/obo/MONDO_0017209 infectious posterior uveitis 'infectious posterior uveitis' SubClassOf 'endophthalmitis' 'infectious posterior uveitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'optic choroid') 'infectious posterior uveitis' SubClassOf 'choroiditis' http://purl.obolibrary.org/obo/MONDO_0017203 chronic endophthalmitis 'chronic endophthalmitis' SubClassOf 'purulent endophthalmitis' http://purl.obolibrary.org/obo/MONDO_0017202 acute endophthalmitis 'acute endophthalmitis' SubClassOf 'purulent endophthalmitis' 'acute endophthalmitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0017210 infectious anterior uveitis 'infectious anterior uveitis' SubClassOf 'iridocyclitis' 'infectious anterior uveitis' SubClassOf 'disease has inflammation site' some 'anterior uvea' 'infectious anterior uveitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'anterior uvea') 'infectious anterior uveitis' SubClassOf 'endophthalmitis' http://purl.obolibrary.org/obo/GO_0035176 social behavior 'social behavior' SubClassOf 'behavior' http://purl.obolibrary.org/obo/HP_0001596 Alopecia 'Alopecia' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/GO_0060037 pharyngeal system development 'pharyngeal system development' SubClassOf 'system development' http://purl.obolibrary.org/obo/UBERON_0001814 brachial nerve plexus 'brachial nerve plexus' SubClassOf 'nerve plexus' 'brachial nerve plexus' SubClassOf 'part of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0001815 lumbosacral nerve plexus 'lumbosacral nerve plexus' SubClassOf 'part of' some 'nervous system' 'lumbosacral nerve plexus' SubClassOf 'nerve plexus' http://purl.obolibrary.org/obo/UBERON_0001810 nerve plexus 'nerve plexus' SubClassOf 'part of' some 'nervous system' 'nerve plexus' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001818 tarsal gland 'tarsal gland' SubClassOf 'part of' some 'camera-type eye' 'tarsal gland' SubClassOf 'part of' some 'eyelid' 'tarsal gland' SubClassOf 'part of' some 'ocular adnexa' 'tarsal gland' SubClassOf 'part of' some 'orbital region' 'tarsal gland' SubClassOf 'part of' some 'eye' 'tarsal gland' SubClassOf 'part of' some 'skin of body' 'tarsal gland' SubClassOf 'part of' some 'pilosebaceous unit' 'tarsal gland' SubClassOf 'part of' some 'integumental system' 'tarsal gland' SubClassOf 'sebaceous gland' 'tarsal gland' SubClassOf 'eyelid gland' http://purl.obolibrary.org/obo/UBERON_0001862 vestibular labyrinth 'vestibular labyrinth' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0011202 urachus epithelium 'urachus epithelium' EquivalentTo 'epithelium' and ('part of' some 'urachus') 'urachus epithelium' SubClassOf 'part of' some 'renal system' 'urachus epithelium' SubClassOf 'part of' some 'urachus' 'urachus epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/UBERON_0001825 paranasal sinus 'paranasal sinus' SubClassOf 'skeleton structure' 'paranasal sinus' SubClassOf 'part of' some 'respiratory system' 'paranasal sinus' SubClassOf 'part of' some 'skull' http://purl.obolibrary.org/obo/UBERON_0001826 nasal cavity mucosa 'nasal cavity mucosa' SubClassOf 'tracheal mucosa' http://purl.obolibrary.org/obo/UBERON_0001821 sebaceous gland 'sebaceous gland' SubClassOf 'part of' some 'exocrine system' 'sebaceous gland' SubClassOf 'part of' some 'skin of body' 'sebaceous gland' SubClassOf 'part of' some 'skin epidermis' 'sebaceous gland' SubClassOf 'part of' some 'pilosebaceous unit' 'sebaceous gland' SubClassOf 'part of' some 'integumental system' 'sebaceous gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0001829 major salivary gland 'major salivary gland' SubClassOf 'saliva-secreting gland' http://purl.obolibrary.org/obo/GO_0001764 neuron migration 'neuron migration' SubClassOf 'cellular process' http://purl.obolibrary.org/obo/UBERON_0001837 duct of salivary gland 'duct of salivary gland' SubClassOf 'part of' some 'saliva-secreting gland' 'duct of salivary gland' SubClassOf 'part of' some 'digestive system' 'duct of salivary gland' EquivalentTo 'duct' and ('part of' some 'saliva-secreting gland') 'duct of salivary gland' SubClassOf 'duct' http://purl.obolibrary.org/obo/UBERON_0001832 sublingual gland 'sublingual gland' SubClassOf 'major salivary gland' http://purl.obolibrary.org/obo/UBERON_0001833 lip 'lip' SubClassOf 'part of' some 'mouth' 'lip' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001850 lacrimal drainage system 'lacrimal drainage system' SubClassOf 'part of' some 'lacrimal apparatus' 'lacrimal drainage system' SubClassOf 'anatomical structure' 'lacrimal drainage system' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/HP_0001419 X-linked recessive inheritance 'X-linked recessive inheritance' SubClassOf 'X-linked inheritance' http://purl.obolibrary.org/obo/HP_0001417 X-linked inheritance 'X-linked inheritance' SubClassOf 'Mode of inheritance' http://purl.obolibrary.org/obo/HP_0001423 X-linked dominant inheritance 'X-linked dominant inheritance' SubClassOf 'X-linked inheritance' http://purl.obolibrary.org/obo/HP_0001433 Hepatosplenomegaly 'Hepatosplenomegaly' SubClassOf 'Hepatomegaly' 'Hepatosplenomegaly' SubClassOf 'Splenomegaly' http://purl.obolibrary.org/obo/MONDO_0007704 osteoarthritis susceptibility 2 'osteoarthritis susceptibility 2' SubClassOf 'predisposes towards' some 'osteoarthritis' 'osteoarthritis susceptibility 2' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0007707 hemangiomas of small intestine 'hemangiomas of small intestine' SubClassOf 'benign neoplasm of small intestine' 'hemangiomas of small intestine' EquivalentTo 'hemangioma' and ('disease has location' some 'small intestine') 'hemangiomas of small intestine' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/UBERON_0001677 sphenoid bone 'sphenoid bone' SubClassOf 'part of' some 'facial skeleton' 'sphenoid bone' SubClassOf 'bone element' 'sphenoid bone' SubClassOf 'part of' some 'craniocervical region' 'sphenoid bone' SubClassOf 'part of' some 'head' http://purl.obolibrary.org/obo/UBERON_0001679 ethmoid bone 'ethmoid bone' SubClassOf 'part of' some 'head' 'ethmoid bone' SubClassOf 'part of' some 'craniocervical region' 'ethmoid bone' SubClassOf 'part of' some 'basicranium' 'ethmoid bone' SubClassOf 'part of' some 'cranium' 'ethmoid bone' SubClassOf 'bone element' 'ethmoid bone' SubClassOf 'part of' some 'facial skeleton' http://purl.obolibrary.org/obo/UBERON_0001697 orbit of skull 'orbit of skull' SubClassOf 'skeleton structure' 'orbit of skull' SubClassOf 'part of' some 'facial skeleton' 'orbit of skull' SubClassOf 'part of' some 'orbital region' 'orbit of skull' SubClassOf 'part of' some 'skeleton' 'orbit of skull' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/GO_0050667 homocysteine metabolic process 'homocysteine metabolic process' SubClassOf 'sulfur amino acid metabolic process' 'homocysteine metabolic process' SubClassOf 'amino acid metabolic process' http://purl.obolibrary.org/obo/MONDO_0032778 arthrogryposis multiplex congenita 3, myogenic type 'arthrogryposis multiplex congenita 3, myogenic type' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/HP_0001480 Freckling 'Freckling' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/UBERON_0001758 periodontium 'periodontium' SubClassOf 'anatomical structure' 'periodontium' SubClassOf 'part of' some 'multicellular organism' http://purl.obolibrary.org/obo/UBERON_0001754 dental pulp 'dental pulp' SubClassOf 'connective tissue' 'dental pulp' SubClassOf 'skeleton structure' 'dental pulp' SubClassOf 'part of' some 'calcareous tooth' http://purl.obolibrary.org/obo/UBERON_0001750 lacrimal apparatus 'lacrimal apparatus' SubClassOf 'anatomical system' 'lacrimal apparatus' SubClassOf 'part of' some 'camera-type eye' 'lacrimal apparatus' SubClassOf 'part of' some 'ocular adnexa' http://purl.obolibrary.org/obo/UBERON_0001752 enamel 'enamel' SubClassOf 'skeleton structure' 'enamel' SubClassOf 'connective tissue' 'enamel' SubClassOf 'part of' some 'skeletal element' http://purl.obolibrary.org/obo/UBERON_0001753 cementum 'cementum' SubClassOf 'part of' some 'skeletal element' 'cementum' SubClassOf 'skeleton structure' 'cementum' SubClassOf 'connective tissue' http://purl.obolibrary.org/obo/UBERON_0001765 mammary duct 'mammary duct' SubClassOf 'part of' some 'mammary gland' 'mammary duct' SubClassOf 'duct' 'mammary duct' EquivalentTo 'duct' and ('part of' some 'mammary gland') 'mammary duct' SubClassOf 'epithelium of mammary gland' http://purl.obolibrary.org/obo/UBERON_0001768 uvea 'uvea' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001764 maxillary sinus 'maxillary sinus' SubClassOf 'paranasal sinus' http://purl.obolibrary.org/obo/UBERON_0001776 optic choroid 'optic choroid' SubClassOf 'part of' some 'uvea' 'optic choroid' SubClassOf 'vasculature of eye' 'optic choroid' DisjointWith 'anterior uvea' 'optic choroid' SubClassOf 'part of' some 'chorioretinal region' http://purl.obolibrary.org/obo/UBERON_0001773 sclera 'sclera' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0001775 ciliary body 'ciliary body' SubClassOf 'anatomical structure' 'ciliary body' SubClassOf 'part of' some 'anterior uvea' http://purl.obolibrary.org/obo/UBERON_0001708 jaw skeleton 'jaw skeleton' SubClassOf 'part of' some 'anatomical system' 'jaw skeleton' SubClassOf 'skeleton structure' 'jaw skeleton' SubClassOf 'part of' some 'facial skeleton' 'jaw skeleton' SubClassOf 'part of' some 'skeleton' http://purl.obolibrary.org/obo/UBERON_0001716 secondary palate 'secondary palate' SubClassOf 'part of' some 'head' 'secondary palate' SubClassOf 'anatomical structure' 'secondary palate' SubClassOf 'part of' some 'mouth' http://purl.obolibrary.org/obo/UBERON_0001735 tonsillar ring 'tonsillar ring' SubClassOf 'part of' some 'chordate pharynx' 'tonsillar ring' SubClassOf 'mucosa-associated lymphoid tissue' 'tonsillar ring' SubClassOf 'part of' some 'digestive tract' http://purl.obolibrary.org/obo/HP_0001789 Hydrops fetalis 'Hydrops fetalis' SubClassOf 'Edema' 'Hydrops fetalis' SubClassOf 'Abnormality of prenatal development or birth' http://purl.obolibrary.org/obo/HP_0001733 Pancreatitis 'Pancreatitis' SubClassOf 'Increased inflammatory response' 'Pancreatitis' SubClassOf 'Abnormality of the abdominal organs' http://purl.obolibrary.org/obo/HP_0001735 Acute pancreatitis 'Acute pancreatitis' SubClassOf 'Pancreatitis' http://purl.obolibrary.org/obo/MONDO_0007628 foveal hypoplasia 1 'foveal hypoplasia 1' SubClassOf 'foveal hypoplasia' 'foveal hypoplasia 1' SubClassOf 'PAX6-related ocular dysgenesis' http://purl.obolibrary.org/obo/MONDO_0007662 anterior segment dysgenesis 4 'anterior segment dysgenesis 4' SubClassOf 'Rieger anomaly' 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' http://purl.obolibrary.org/obo/UBERON_0011826 vestibular gland 'vestibular gland' SubClassOf 'part of' some 'female reproductive organ' 'vestibular gland' SubClassOf 'part of' some 'mammalian vulva' 'vestibular gland' SubClassOf 'gland' 'vestibular gland' SubClassOf 'part of' some 'female reproductive system' 'vestibular gland' SubClassOf 'part of' some 'reproductive system' http://purl.obolibrary.org/obo/UBERON_0011818 superficial fascia 'superficial fascia' SubClassOf 'anatomical structure' 'superficial fascia' SubClassOf 'part of' some 'multicellular organism' http://purl.obolibrary.org/obo/HP_0001700 Myocardial necrosis 'Myocardial necrosis' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0001702 Abnormal tricuspid valve morphology 'Abnormal tricuspid valve morphology' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/HP_0001718 Mitral stenosis 'Mitral stenosis' SubClassOf 'Abnormal mitral valve physiology' http://purl.obolibrary.org/obo/UBERON_0035845 enthesis 'enthesis' SubClassOf 'part of' some 'musculoskeletal system' 'enthesis' SubClassOf 'connective tissue' http://purl.obolibrary.org/obo/UBERON_0011892 anterior uvea 'optic choroid' DisjointWith 'anterior uvea' 'anterior uvea' SubClassOf 'anatomical structure' 'anterior uvea' SubClassOf 'part of' some 'uvea' http://purl.obolibrary.org/obo/GO_0001503 ossification 'ossification' SubClassOf 'multicellular organismal process' http://purl.obolibrary.org/obo/HP_0001650 Aortic valve stenosis 'Aortic valve stenosis' SubClassOf 'Abnormal aortic valve physiology' http://purl.obolibrary.org/obo/HP_0001663 Ventricular fibrillation 'Ventricular fibrillation' SubClassOf 'Ventricular arrhythmia' http://purl.obolibrary.org/obo/HP_0011001 Increased bone mineral density 'Increased bone mineral density' SubClassOf 'Abnormality of bone mineral density' http://purl.obolibrary.org/obo/HP_0011002 Osteopetrosis 'Osteopetrosis' SubClassOf 'Increased bone mineral density' http://purl.obolibrary.org/obo/HP_0001686 Loss of voice 'Loss of voice' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0001609 Hoarse voice 'Hoarse voice' SubClassOf 'Phenotypic abnormality' http://purl.obolibrary.org/obo/HP_0001635 Congestive heart failure 'Congestive heart failure' SubClassOf 'Abnormal cardiovascular system physiology' http://purl.obolibrary.org/obo/HP_0001644 Dilated cardiomyopathy 'Dilated cardiomyopathy' SubClassOf 'Abnormal heart morphology' 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 'genetic disorder' 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 'autosomal dominant disease' http://purl.obolibrary.org/obo/HP_0001698 Pericardial effusion 'Pericardial effusion' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/GO_0050432 catecholamine secretion 'catecholamine secretion' SubClassOf 'secretion by cell' 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 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/HP_0011043 Abnormal circulating adrenocorticotropin concentration 'Abnormal circulating adrenocorticotropin concentration' SubClassOf 'Abnormal circulating hormone concentration' http://purl.obolibrary.org/obo/UBERON_0011597 bone of upper jaw 'bone of upper jaw' SubClassOf 'part of' some 'anatomical system' 'bone of upper jaw' SubClassOf 'part of' some 'craniocervical region' 'bone of upper jaw' SubClassOf 'part of' some 'digestive system' 'bone of upper jaw' SubClassOf 'bone element' 'bone of upper jaw' SubClassOf 'part of' some 'jaw skeleton' 'bone of upper jaw' SubClassOf 'part of' some 'facial skeleton' 'bone of upper jaw' SubClassOf 'part of' some 'head' http://purl.obolibrary.org/obo/UBERON_0035549 vasculature of integument 'vasculature of integument' SubClassOf 'vasculature' http://purl.obolibrary.org/obo/HP_0001997 Gout 'Gout' SubClassOf 'Arthritis' http://purl.obolibrary.org/obo/MONDO_0007411 cutis laxa, autosomal dominant 1 'cutis laxa, autosomal dominant 1' SubClassOf 'autosomal dominant cutis laxa' http://purl.obolibrary.org/obo/MONDO_0007447 autosomal dominant vibratory urticaria 'autosomal dominant vibratory urticaria' SubClassOf 'hereditary skin disorder' 'autosomal dominant vibratory urticaria' SubClassOf 'autosomal dominant disease' 'autosomal dominant vibratory urticaria' SubClassOf 'vibratory urticaria' 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' http://purl.obolibrary.org/obo/MONDO_0007454 type 1 diabetes mellitus 2 'type 1 diabetes mellitus 2' SubClassOf 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' http://purl.obolibrary.org/obo/HP_0001924 Sideroblastic anemia 'Sideroblastic anemia' SubClassOf 'Anemia of inadequate production' http://purl.obolibrary.org/obo/HP_0001920 Renal artery stenosis 'Renal artery stenosis' SubClassOf 'Arterial stenosis' 'Renal artery stenosis' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/HP_0001935 Microcytic anemia 'Microcytic anemia' SubClassOf 'Anemia of inadequate production' http://purl.obolibrary.org/obo/HP_0001931 Hypochromic anemia 'Hypochromic anemia' SubClassOf 'Anemia of inadequate production' http://purl.obolibrary.org/obo/HP_0001941 Acidosis 'Acidosis' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/UBERON_0035639 ocular adnexa 'ocular adnexa' SubClassOf 'anatomical structure' 'ocular adnexa' SubClassOf 'part of' some 'orbital region' http://purl.obolibrary.org/obo/HP_0001903 Anemia 'Anemia' SubClassOf 'Abnormal erythrocyte morphology' http://purl.obolibrary.org/obo/HP_0001888 Lymphopenia 'Lymphopenia' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/HP_0001889 Megaloblastic anemia 'Megaloblastic anemia' SubClassOf 'Anemia of inadequate production' http://purl.obolibrary.org/obo/HP_0001894 Thrombocytosis 'Thrombocytosis' SubClassOf 'Abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/GO_0015804 neutral amino acid transport 'neutral amino acid transport' SubClassOf 'transport' http://purl.obolibrary.org/obo/HP_0001882 Leukopenia 'Leukopenia' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/MONDO_0022901 Crohn disease of the esophagus 'Crohn disease of the esophagus' SubClassOf 'Crohn's disease' 'Crohn disease of the esophagus' SubClassOf 'esophagitis' 'Crohn disease of the esophagus' EquivalentTo 'Crohn's disease' and ('disease has inflammation site' some 'esophagus') http://purl.obolibrary.org/obo/GO_0015888 thiamine transport 'thiamine transport' SubClassOf 'vitamin transport' http://purl.obolibrary.org/obo/GO_0015889 cobalamin transport 'cobalamin transport' SubClassOf 'vitamin transport' http://purl.obolibrary.org/obo/MONDO_0007300 cerebral sarcoma 'cerebral sarcoma' SubClassOf 'disease has location' some 'telencephalon' 'cerebral sarcoma' SubClassOf 'brain sarcoma' 'cerebral sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'telencephalon') http://purl.obolibrary.org/obo/MONDO_0007333 van der Woude syndrome 1 'van der Woude syndrome 1' SubClassOf 'genetic disorder' 'van der Woude syndrome 1' SubClassOf 'van der Woude syndrome' http://purl.obolibrary.org/obo/CHEBI_17015 riboflavin 'riboflavin' SubClassOf 'organic heterocyclic compound' http://purl.obolibrary.org/obo/MONDO_0003685 retroperitoneal germ cell neoplasm 'retroperitoneal germ cell neoplasm' SubClassOf 'retroperitoneal neoplasm' 'retroperitoneal germ cell neoplasm' EquivalentTo 'germ cell tumor' and ('disease has location' some 'retroperitoneal space') 'retroperitoneal germ cell neoplasm' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003687 endocardium cancer 'endocardium cancer' EquivalentTo 'cancer' and ('disease has location' some 'endocardium') 'endocardium cancer' SubClassOf 'heart cancer' 'endocardium cancer' SubClassOf 'neoplasm of endocardium' 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' http://purl.obolibrary.org/obo/MONDO_0003698 penis verrucous carcinoma 'penis verrucous carcinoma' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'penis') 'penis verrucous carcinoma' SubClassOf 'papillary carcinoma of the penis' '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 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0003692 adult malignant mesenchymoma 'adult malignant mesenchymoma' SubClassOf 'malignant mesenchymoma' http://purl.obolibrary.org/obo/MONDO_0003690 adult anaplastic ependymoma 'adult anaplastic ependymoma' SubClassOf 'anaplastic ependymoma' http://purl.obolibrary.org/obo/MONDO_0013011 atrial septal defect 5 'atrial septal defect 5' SubClassOf 'atrial heart septal defect' 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' http://purl.obolibrary.org/obo/MONDO_0037002 benign phyllodes tumor 'benign phyllodes tumor' SubClassOf 'benign neoplasm' 'benign phyllodes tumor' SubClassOf 'phyllodes tumor' http://purl.obolibrary.org/obo/GO_0015723 bilirubin transport 'bilirubin transport' SubClassOf 'transport' http://purl.obolibrary.org/obo/MONDO_0013067 cataract 34 multiple types 'cataract 34 multiple types' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0013065 premature ovarian failure 7 'premature ovarian failure 7' SubClassOf 'inherited primary ovarian failure' 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' 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 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/CHEBI_16874 psychosine 'psychosine' SubClassOf 'lipid' http://purl.obolibrary.org/obo/CL_0002576 perineurial cell 'perineurial cell' SubClassOf 'glial cell' http://purl.obolibrary.org/obo/CL_0002573 Schwann cell 'Schwann cell' SubClassOf 'glial cell' http://purl.obolibrary.org/obo/UBERON_0034936 pars plana of ciliary body 'pars plana of ciliary body' SubClassOf 'part of' some 'ciliary body' 'pars plana of ciliary body' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0003700 brachial plexus neoplasm 'brachial plexus neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'brachial nerve plexus') 'brachial plexus neoplasm' SubClassOf 'nerve plexus neoplasm' 'brachial plexus neoplasm' SubClassOf 'brachial plexus neuropathy' http://purl.obolibrary.org/obo/MONDO_0003704 uterine corpus diffuse leiomyomatosis 'uterine corpus diffuse leiomyomatosis' SubClassOf 'uterine fibroid' 'uterine corpus diffuse leiomyomatosis' EquivalentTo 'leiomyomatosis' and ('disease has location' some 'body of uterus') 'uterine corpus diffuse leiomyomatosis' SubClassOf 'leiomyomatosis' http://purl.obolibrary.org/obo/MONDO_0003716 renal pelvis papillary urothelial carcinoma 'renal pelvis papillary urothelial carcinoma' EquivalentTo 'papillary carcinoma' and ('disease has location' some 'renal pelvis') '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' http://purl.obolibrary.org/obo/MONDO_0003721 kidney osteogenic sarcoma 'kidney osteogenic sarcoma' SubClassOf 'kidney sarcoma' 'kidney osteogenic sarcoma' EquivalentTo 'osteosarcoma' and ('disease has location' some 'kidney') 'kidney osteogenic sarcoma' SubClassOf 'extraosseous osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0003720 kidney fibrosarcoma 'kidney fibrosarcoma' SubClassOf 'kidney sarcoma' 'kidney fibrosarcoma' SubClassOf 'fibrosarcoma' 'kidney fibrosarcoma' EquivalentTo 'fibrosarcoma' and ('disease has location' some 'kidney') http://purl.obolibrary.org/obo/MONDO_0003728 breast fibrosarcoma 'breast fibrosarcoma' EquivalentTo 'fibrosarcoma' and ('disease has location' some 'breast') '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' 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' 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 carcinoma' 'malignant testicular Leydig cell tumor' SubClassOf 'testicular Leydig cell tumor' http://purl.obolibrary.org/obo/MONDO_0003743 heart malignant hemangiopericytoma 'heart malignant hemangiopericytoma' SubClassOf 'hemangiopericytoma' 'heart malignant hemangiopericytoma' EquivalentTo 'hemangiopericytoma' and ('disease has location' some 'heart') 'heart malignant hemangiopericytoma' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_0003745 choroid spindle cell melanoma 'choroid spindle cell melanoma' EquivalentTo 'Spindle Cell Melanoma' and ('disease has location' some 'optic choroid') 'choroid spindle cell melanoma' SubClassOf 'spindle cell intraocular 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' EquivalentTo 'Spindle Cell Melanoma' and ('disease has location' some 'ciliary body') http://purl.obolibrary.org/obo/MONDO_0003741 juvenile type 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' EquivalentTo 'fibrosarcoma' and ('disease has location' some 'heart') 'heart fibrosarcoma' SubClassOf 'heart sarcoma' 'heart fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0003750 childhood central nervous system germ cell tumor 'childhood central nervous system germ cell tumor' EquivalentTo 'childhood germ cell tumor' and ('disease has location' some 'central nervous system') '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_0003758 childhood testicular germ cell tumor 'childhood testicular germ cell tumor' SubClassOf 'childhood testicular neoplasm' 'childhood testicular germ cell tumor' SubClassOf 'childhood gonadal 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 'pediatric ovarian germ cell tumor' 'childhood ovarian yolk sac tumor' EquivalentTo 'childhood endodermal sinus tumor' and ('disease has location' some 'ovary') '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 'childhood gonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003764 pediatric leptomeningeal melanoma 'pediatric leptomeningeal melanoma' SubClassOf 'pediatric meningioma' 'pediatric leptomeningeal melanoma' SubClassOf 'leptomeningeal melanoma' 'pediatric leptomeningeal melanoma' SubClassOf 'childhood malignant melanoma' http://purl.obolibrary.org/obo/MONDO_0003760 pediatric ovarian germ cell tumor 'pediatric ovarian germ cell tumor' SubClassOf 'childhood 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 'Herpesviridae infectious disease' 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' EquivalentTo 'inverted papilloma' and ('disease has location' some 'renal pelvis') 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' EquivalentTo 'urothelial papilloma' and ('disease has location' some 'renal pelvis') 'renal pelvis urothelial papilloma' SubClassOf 'benign neoplasm of renal pelvis' http://purl.obolibrary.org/obo/MONDO_0003772 cerebral meningioma 'cerebral meningioma' SubClassOf 'cerebral hemisphere cancer' 'cerebral meningioma' SubClassOf 'intracranial meningioma' 'cerebral meningioma' EquivalentTo 'meningioma' and ('disease has location' some 'telencephalon') 'cerebral meningioma' SubClassOf 'malignant tumor of meninges' http://purl.obolibrary.org/obo/UBERON_0034972 jugular body 'jugular body' SubClassOf 'part of' some 'anatomical system' 'jugular body' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0003787 childhood testicular mixed germ cell cancer 'childhood testicular mixed germ cell cancer' SubClassOf 'childhood testicular germ cell tumor' 'childhood testicular mixed germ cell cancer' SubClassOf 'mixed testicular germ cell cancer' 'childhood testicular mixed germ cell cancer' SubClassOf 'malignant childhood germ cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003788 childhood embryonal testis carcinoma 'childhood embryonal testis carcinoma' SubClassOf 'malignant childhood germ cell neoplasm' 'childhood embryonal testis carcinoma' SubClassOf 'Testicular Embryonal Carcinoma' 'childhood embryonal testis carcinoma' SubClassOf 'childhood testicular germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003784 nasal cavity carcinoma in situ 'nasal cavity carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'nasal cavity') '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 'childhood testicular germ cell tumor' 'childhood testicular choriocarcinoma' SubClassOf 'malignant childhood germ cell neoplasm' 'childhood testicular choriocarcinoma' SubClassOf 'Testicular Choriocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003558 adenosquamous prostate carcinoma 'adenosquamous prostate carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'adenosquamous prostate carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and ('disease has location' some 'prostate gland') 'adenosquamous prostate carcinoma' SubClassOf 'prostate squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003553 ampulla of vater adenosquamous carcinoma 'ampulla of vater adenosquamous carcinoma' SubClassOf 'Extrahepatic Bile Duct Adenosquamous Carcinoma' 'ampulla of vater adenosquamous carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and ('disease has location' some 'hepatopancreatic ampulla') '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' EquivalentTo 'Adenosquamous Carcinoma' and ('disease has location' some 'colon') 'adenosquamous colon carcinoma' SubClassOf 'squamous cell carcinoma of colon' 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' EquivalentTo 'Adenosquamous Carcinoma' and ('disease has location' some 'major vestibular gland') http://purl.obolibrary.org/obo/MONDO_0003550 esophageal adenosquamous carcinoma 'esophageal adenosquamous carcinoma' SubClassOf 'esophageal squamous cell carcinoma' 'esophageal adenosquamous carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and ('disease has location' some 'esophagus') 'esophageal adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003551 thymic adenosquamous carcinoma 'thymic adenosquamous carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and ('disease has location' some 'thymus') 'thymic adenosquamous carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'thymic adenosquamous carcinoma' SubClassOf 'Thymic Squamous Cell Carcinoma' http://purl.obolibrary.org/obo/HP_0011463 Childhood onset 'Childhood onset' SubClassOf 'Pediatric onset' http://purl.obolibrary.org/obo/MONDO_0003565 urethral villous adenoma 'urethral villous adenoma' SubClassOf 'urethral neoplasm' 'urethral villous adenoma' EquivalentTo 'villous adenoma' and ('disease has location' some 'urethra') 'urethral villous adenoma' SubClassOf 'villous adenoma' http://purl.obolibrary.org/obo/MONDO_0003574 external ear cancer 'external ear cancer' SubClassOf 'external ear neoplasm' 'external ear cancer' SubClassOf 'auditory system cancer' 'external ear cancer' SubClassOf 'malignant ear neoplasm' 'external ear cancer' EquivalentTo 'cancer' and ('disease has location' some 'external ear') http://purl.obolibrary.org/obo/MONDO_0003589 liposarcoma of the ovary 'liposarcoma of the ovary' EquivalentTo 'liposarcoma' and ('disease has location' some 'ovary') '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' http://purl.obolibrary.org/obo/MONDO_0003586 esophagus liposarcoma 'esophagus liposarcoma' SubClassOf 'esophagus sarcoma' 'esophagus liposarcoma' EquivalentTo 'liposarcoma' and ('disease has location' some 'esophagus') 'esophagus liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003587 pediatric liposarcoma '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' EquivalentTo 'liposarcoma' and ('disease has location' some 'larynx') 'larynx liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003596 spindle cell liposarcoma 'spindle cell liposarcoma' SubClassOf 'spindle cell sarcoma' 'spindle cell liposarcoma' SubClassOf 'well-differentiated liposarcoma' http://purl.obolibrary.org/obo/MONDO_0003599 vulvar liposarcoma 'vulvar liposarcoma' SubClassOf 'liposarcoma' 'vulvar liposarcoma' EquivalentTo 'liposarcoma' and ('disease has location' some 'mammalian vulva') 'vulvar liposarcoma' SubClassOf 'vulva sarcoma' http://purl.obolibrary.org/obo/MONDO_0003592 gastric liposarcoma 'gastric liposarcoma' SubClassOf 'liposarcoma' 'gastric liposarcoma' EquivalentTo 'liposarcoma' and ('disease has location' some 'stomach') 'gastric liposarcoma' SubClassOf 'gastric cancer' http://purl.obolibrary.org/obo/MONDO_0003593 breast liposarcoma 'breast liposarcoma' EquivalentTo 'liposarcoma' and ('disease has location' some 'breast') 'breast liposarcoma' SubClassOf 'liposarcoma' 'breast liposarcoma' SubClassOf 'breast sarcoma' http://purl.obolibrary.org/obo/MONDO_0003591 kidney liposarcoma 'kidney liposarcoma' SubClassOf 'kidney sarcoma' 'kidney liposarcoma' SubClassOf 'liposarcoma' 'kidney liposarcoma' EquivalentTo 'liposarcoma' and ('disease has location' some 'kidney') http://purl.obolibrary.org/obo/GO_0015693 magnesium ion transport 'magnesium ion transport' SubClassOf 'transport' http://purl.obolibrary.org/obo/UBERON_0019207 chorioretinal region 'chorioretinal region' SubClassOf 'anatomical structure' 'chorioretinal region' SubClassOf 'part of' some 'eyeball of camera-type eye' http://purl.obolibrary.org/obo/CHEBI_8058 phencyclidine 'phencyclidine' SubClassOf 'organic heterocyclic compound' http://purl.obolibrary.org/obo/UBERON_0009854 digestive tract diverticulum 'digestive tract diverticulum' SubClassOf 'part of' some 'digestive tract' 'digestive tract diverticulum' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0003600 cutaneous liposarcoma 'cutaneous liposarcoma' SubClassOf 'liposarcoma' 'cutaneous liposarcoma' EquivalentTo 'liposarcoma' and ('disease has location' some 'zone of skin') 'cutaneous liposarcoma' SubClassOf 'Skin Sarcoma' http://purl.obolibrary.org/obo/MONDO_0003601 mediastinum liposarcoma 'mediastinum liposarcoma' SubClassOf 'mediastinum sarcoma' 'mediastinum liposarcoma' EquivalentTo 'liposarcoma' and ('disease has location' some 'mediastinum') 'mediastinum liposarcoma' SubClassOf 'liposarcoma' 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 'disease arises from feature' some 'von Hippel-Lindau disease' 'uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease' SubClassOf 'papillary cystadenoma' 'uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease' EquivalentTo 'papillary cystadenoma' and ('disease arises from feature' some 'von Hippel-Lindau disease') and ('disease has location' some 'uterine ligament') http://purl.obolibrary.org/obo/MONDO_0003612 uterine ligament cancer 'uterine ligament cancer' SubClassOf 'musculoskeletal system cancer' 'uterine ligament cancer' SubClassOf 'uterine ligament neoplasm' 'uterine ligament cancer' EquivalentTo 'cancer' and ('disease has location' some 'uterine ligament') 'uterine ligament cancer' SubClassOf 'cervical cancer' http://purl.obolibrary.org/obo/MONDO_0003617 chronic salpingitis 'chronic salpingitis' SubClassOf 'salpingitis' http://purl.obolibrary.org/obo/MONDO_0003626 uterine ligament serous adenocarcinoma 'uterine ligament serous adenocarcinoma' EquivalentTo 'serous adenocarcinoma' and ('disease has location' some 'uterine ligament') 'uterine ligament serous adenocarcinoma' SubClassOf 'cervical serous adenocarcinoma' 'uterine ligament serous adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003627 rheumatic pulmonary valve disease 'rheumatic pulmonary valve disease' EquivalentTo 'rheumatic disease' and ('disease has location' some 'pulmonary valve') 'rheumatic pulmonary valve disease' SubClassOf 'autoimmune disorder of cardiovascular system' 'rheumatic pulmonary valve disease' SubClassOf 'autoimmune disorder of musculoskeletal system' 'rheumatic pulmonary valve disease' SubClassOf 'pulmonary valve disease' 'rheumatic pulmonary valve disease' SubClassOf 'rheumatic disease' http://purl.obolibrary.org/obo/MONDO_0003629 uterine corpus serous adenocarcinoma 'uterine corpus serous adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'uterine corpus serous adenocarcinoma' SubClassOf 'uterine carcinoma' 'uterine corpus serous adenocarcinoma' SubClassOf 'uterine corpus cancer' 'uterine corpus serous adenocarcinoma' EquivalentTo 'serous adenocarcinoma' and ('disease has location' some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0003633 malignant mesenchymoma 'malignant mesenchymoma' SubClassOf 'mesenchymoma' 'malignant mesenchymoma' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0003635 sebaceous breast carcinoma 'sebaceous breast carcinoma' SubClassOf 'sebaceous adenocarcinoma' 'sebaceous breast carcinoma' EquivalentTo 'sebaceous adenocarcinoma' and ('disease has location' some 'breast') 'sebaceous breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'sebaceous breast carcinoma' SubClassOf 'breast adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003636 vulvar sebaceous carcinoma 'vulvar sebaceous carcinoma' EquivalentTo 'sebaceous adenocarcinoma' and ('disease has location' some 'mammalian vulva') 'vulvar sebaceous carcinoma' SubClassOf 'sebaceous adenocarcinoma' 'vulvar sebaceous carcinoma' SubClassOf 'vulvar 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' EquivalentTo 'serous cystadenocarcinoma' and ('disease has location' some 'pancreas') http://purl.obolibrary.org/obo/MONDO_0003631 cervical serous adenocarcinoma 'cervical serous adenocarcinoma' SubClassOf 'serous adenocarcinoma' 'cervical serous adenocarcinoma' EquivalentTo 'serous adenocarcinoma' and ('disease has location' some 'uterine cervix') 'cervical serous adenocarcinoma' SubClassOf 'cervical adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003638 lung meningioma 'lung meningioma' EquivalentTo 'meningioma' and ('disease has location' some 'lung') 'lung meningioma' SubClassOf 'meningioma' 'lung meningioma' SubClassOf 'malignant tumor of meninges' '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' EquivalentTo 'Cavernous Hemangioma' and ('disease has location' some 'colon') 'cavernous hemangioma of colon' SubClassOf 'epithelial tumor of colon' 'cavernous hemangioma of colon' SubClassOf 'Cavernous Hemangioma' http://purl.obolibrary.org/obo/MONDO_0003646 rectum neuroendocrine neoplasm 'rectum neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and ('disease has location' some 'rectum') 'rectum neuroendocrine neoplasm' SubClassOf 'intestinal neuroendocrine neoplasm' 'rectum neuroendocrine neoplasm' SubClassOf 'epithelial neoplasm of rectum' 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' 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' EquivalentTo 'endometrioid carcinoma' and ('disease has location' some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0003663 uterine ligament endometrioid adenocarcinoma 'uterine ligament endometrioid adenocarcinoma' EquivalentTo 'endometrioid carcinoma' and ('disease has location' some 'uterine ligament') 'uterine ligament endometrioid adenocarcinoma' SubClassOf 'Cervical Endometrioid Adenocarcinoma' 'uterine ligament endometrioid adenocarcinoma' SubClassOf 'uterine ligament adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003431 lipoadenoma 'lipoadenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0003434 vaginal adenoma 'vaginal adenoma' EquivalentTo 'adenoma' and ('disease has location' some 'vagina') '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' EquivalentTo 'villous adenoma' and ('disease has location' some 'urinary bladder') http://purl.obolibrary.org/obo/MONDO_0003442 bladder papillary urothelial neoplasm 'bladder papillary urothelial neoplasm' SubClassOf 'papillary urothelial neoplasm' 'bladder papillary urothelial neoplasm' EquivalentTo 'papillary epithelial neoplasm' and ('disease has location' some 'urinary bladder urothelium') 'bladder papillary urothelial neoplasm' SubClassOf 'disease has location' some 'urinary bladder urothelium' 'bladder papillary urothelial neoplasm' SubClassOf 'bladder tumor' http://purl.obolibrary.org/obo/MONDO_0003444 intrahepatic bile duct adenoma 'intrahepatic bile duct adenoma' EquivalentTo 'adenoma' and ('disease has location' some 'intrahepatic bile duct') 'intrahepatic bile duct adenoma' SubClassOf 'Bile Duct Adenoma' 'intrahepatic bile duct adenoma' SubClassOf 'disease has location' some 'intrahepatic bile duct' http://purl.obolibrary.org/obo/MONDO_0003445 extrahepatic bile duct adenoma 'extrahepatic bile duct adenoma' EquivalentTo 'adenoma' and ('disease has location' some 'extrahepatic bile duct') 'extrahepatic bile duct adenoma' SubClassOf 'Bile Duct Adenoma' 'extrahepatic bile duct adenoma' SubClassOf 'extrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0003458 uterine corpus adenofibroma 'uterine corpus adenofibroma' EquivalentTo 'Adenofibroma' and ('disease has location' some 'body of uterus') 'uterine corpus adenofibroma' SubClassOf 'Adenofibroma' 'uterine corpus adenofibroma' SubClassOf 'benign neoplasm of corpus uteri' http://purl.obolibrary.org/obo/MONDO_0003450 eccrine papillary adenoma 'eccrine papillary adenoma' SubClassOf 'papillary adenoma' 'eccrine papillary adenoma' EquivalentTo 'papillary adenoma' and ('disease has location' some 'eccrine sweat gland') 'eccrine papillary adenoma' SubClassOf 'eccrine sweat gland neoplasm' 'eccrine papillary adenoma' SubClassOf 'sweat gland adenoma' http://purl.obolibrary.org/obo/MONDO_0003464 cystadenofibroma 'cystadenofibroma' SubClassOf 'Adenofibroma' http://purl.obolibrary.org/obo/MONDO_0003466 spindle cell synovial sarcoma 'spindle cell synovial sarcoma' SubClassOf 'spindle cell 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' EquivalentTo 'synovial sarcoma' and ('disease has location' some 'mediastinum') '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' EquivalentTo 'serous adenofibroma' and ('disease has location' some 'fallopian tube') 'fallopian tube serous adenofibroma' SubClassOf 'serous adenofibroma' 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' EquivalentTo 'ependymoma' and ('disease has location' some 'brainstem') 'brain stem ependymoma' SubClassOf 'Brain Stem Glioma' http://purl.obolibrary.org/obo/MONDO_0003482 Pediculus humanus corporis infestation 'Pediculus humanus corporis infestation' SubClassOf 'lice infestation' http://purl.obolibrary.org/obo/MONDO_0003480 pineal region dysgerminoma 'pineal region dysgerminoma' SubClassOf 'malignant pineal area germ cell neoplasm' 'pineal region dysgerminoma' EquivalentTo 'dysgerminoma' and ('disease has location' some 'pineal body') 'pineal region dysgerminoma' SubClassOf 'dysgerminoma' 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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'renal pelvis') 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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'hepatopancreatic ampulla') 'ampulla of vater squamous cell carcinoma' SubClassOf 'squamous cell carcinoma of the small intestine' 'ampulla of vater squamous cell carcinoma' SubClassOf 'Extrahepatic Bile Duct Squamous Cell 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 'head and neck squamous cell carcinoma' 'lacrimal gland squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'lacrimal gland') 'lacrimal gland squamous cell carcinoma' SubClassOf 'skin squamous cell carcinoma' http://purl.obolibrary.org/obo/UBERON_0034713 cranial neuron projection bundle 'cranial neuron projection bundle' SubClassOf 'anatomical structure' 'cranial neuron projection bundle' SubClassOf 'part of' some 'nervous system' 'cranial neuron projection bundle' SubClassOf 'part of' some 'head' http://purl.obolibrary.org/obo/GO_1904659 glucose transmembrane transport 'glucose transmembrane transport' SubClassOf 'cellular process' 'glucose transmembrane transport' SubClassOf 'carbohydrate transport' http://purl.obolibrary.org/obo/UBERON_0034705 developing neuroepithelium 'developing neuroepithelium' SubClassOf 'epithelium' 'developing neuroepithelium' SubClassOf 'part of' some 'nervous system' http://purl.obolibrary.org/obo/UBERON_0009773 renal tubule 'renal tubule' SubClassOf 'part of' some 'renal system' 'renal tubule' SubClassOf 'epithelium' 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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'external ear') '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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'ureter') 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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0003504 anal canal neuroendocrine neoplasm 'anal canal neuroendocrine neoplasm' SubClassOf 'neuroendocrine carcinoma' 'anal canal neuroendocrine neoplasm' SubClassOf 'rectum neuroendocrine neoplasm' 'anal canal neuroendocrine neoplasm' EquivalentTo 'neuroendocrine neoplasm' and ('disease has location' some 'anal canal') 'anal canal neuroendocrine neoplasm' SubClassOf 'anal canal 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' EquivalentTo 'choriocarcinoma' and ('disease has location' some 'pineal body') http://purl.obolibrary.org/obo/MONDO_0003506 pulmonary artery choriocarcinoma 'pulmonary artery choriocarcinoma' SubClassOf 'Malignant Germ Cell Tumor' 'pulmonary artery choriocarcinoma' SubClassOf 'disease has location' some 'pulmonary artery' 'pulmonary artery choriocarcinoma' SubClassOf 'choriocarcinoma' 'pulmonary artery choriocarcinoma' SubClassOf 'reproductive system cancer' 'pulmonary artery choriocarcinoma' SubClassOf 'great vessel cancer' 'pulmonary artery choriocarcinoma' EquivalentTo 'choriocarcinoma' and ('disease has location' some 'pulmonary artery') 'pulmonary artery choriocarcinoma' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0003513 gastric teratoma 'gastric teratoma' SubClassOf 'teratoma' 'gastric teratoma' SubClassOf 'stomach neoplasm' 'gastric teratoma' EquivalentTo 'teratoma' and ('disease has location' some 'stomach') http://purl.obolibrary.org/obo/MONDO_0003514 malignant teratoma 'malignant teratoma' SubClassOf 'Malignant Germ Cell Tumor' 'malignant teratoma' SubClassOf 'teratoma' http://purl.obolibrary.org/obo/MONDO_0003515 fallopian tube teratoma 'fallopian tube teratoma' EquivalentTo 'teratoma' and ('disease has location' some 'fallopian tube') 'fallopian tube teratoma' SubClassOf 'fallopian tube germ cell tumor' 'fallopian tube teratoma' SubClassOf 'teratoma' http://purl.obolibrary.org/obo/MONDO_0003516 adult teratoma 'adult teratoma' SubClassOf 'teratoma' 'adult teratoma' SubClassOf 'adult germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003518 mediastinum teratoma 'mediastinum teratoma' EquivalentTo 'teratoma' and ('disease has location' some 'mediastinum') 'mediastinum teratoma' SubClassOf 'mediastinal germ cell tumor' 'mediastinum teratoma' SubClassOf 'extragonadal non-dysgerminomatous germ cell tumor' 'mediastinum teratoma' SubClassOf 'teratoma' http://purl.obolibrary.org/obo/MONDO_0003524 gastric gastrin-producing neuroendocrine tumor 'gastric gastrin-producing neuroendocrine tumor' EquivalentTo 'gastrin-producing neuroendocrine tumor' and ('disease has location' some 'stomach') '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' EquivalentTo 'gastrin-producing neuroendocrine tumor' and ('disease has location' some 'pancreas') 'pancreatic gastrin-producing neuroendocrine tumor' SubClassOf 'gastrin-producing neuroendocrine tumor' http://purl.obolibrary.org/obo/UBERON_0034769 lymphomyeloid tissue 'lymphomyeloid tissue' SubClassOf 'anatomical structure' 'lymphomyeloid tissue' SubClassOf 'part of' some 'multicellular organism' http://purl.obolibrary.org/obo/MONDO_0003529 acute pyelonephritis 'acute pyelonephritis' SubClassOf 'acute disease' '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' EquivalentTo 'papillary adenocarcinoma' and ('disease has location' some 'thymus') 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' EquivalentTo 'papillary adenocarcinoma' and ('disease has location' some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0003532 breast papillary carcinoma 'breast papillary carcinoma' SubClassOf 'breast ductal adenocarcinoma' 'breast papillary carcinoma' EquivalentTo 'papillary carcinoma' and ('disease has location' some 'breast') 'breast papillary carcinoma' SubClassOf 'papillary adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003548 adenosquamous breast carcinoma 'adenosquamous breast carcinoma' SubClassOf 'Adenosquamous Carcinoma' 'adenosquamous breast carcinoma' EquivalentTo 'Adenosquamous Carcinoma' and ('disease has location' some 'breast') 'adenosquamous breast carcinoma' SubClassOf 'squamous cell breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0003314 endometrioid stromal and related neoplasms of the vagina 'endometrioid stromal and related neoplasms of the vagina' EquivalentTo 'endometrioid stromal and related neoplasms' and ('disease has location' some 'vagina') 'endometrioid stromal and related neoplasms of the vagina' SubClassOf 'Vaginal neoplasm' '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' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'endometrium') 'endometrium carcinoma in situ' SubClassOf 'endometrial carcinoma' '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' EquivalentTo 'endometrioid stromal and related neoplasms' and ('disease has location' some 'ovary') 'ovarian endometrioid stromal and related neoplasms' SubClassOf 'ovarian neoplasm' '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' EquivalentTo 'endometrial stromal sarcoma' and ('disease has location' some '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 'endometrial stromal sarcoma' http://purl.obolibrary.org/obo/MONDO_0003319 scrotum neoplasm 'scrotum neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'scrotum') 'scrotum neoplasm' SubClassOf 'male reproductive system neoplasm' 'scrotum neoplasm' SubClassOf 'scrotal disorder' http://purl.obolibrary.org/obo/MONDO_0003327 peripheral ganglioneuroblastoma 'peripheral ganglioneuroblastoma' SubClassOf 'tumour of cranial and spinal nerves' 'peripheral ganglioneuroblastoma' SubClassOf 'ganglioneuroblastoma' 'peripheral ganglioneuroblastoma' EquivalentTo 'ganglioneuroblastoma' and ('disease has location' some 'peripheral nervous system') http://purl.obolibrary.org/obo/MONDO_0003332 malignant struma ovarii 'malignant struma ovarii' SubClassOf 'struma ovarii' 'malignant struma ovarii' SubClassOf 'immature ovarian teratoma' '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 'Benign Ovarian Neoplasm' 'benign struma ovarii' SubClassOf 'benign neoplasm of testis' http://purl.obolibrary.org/obo/MONDO_0003343 retinal hemangioblastoma 'retinal hemangioblastoma' EquivalentTo 'hemangioblastoma' and ('disease has location' some 'vasculature of retina') 'retinal hemangioblastoma' SubClassOf 'hemangioblastoma' 'retinal hemangioblastoma' SubClassOf 'hemangioma of retina' 'retinal hemangioblastoma' SubClassOf 'retinal vascular disorder' http://purl.obolibrary.org/obo/MONDO_0003340 malignant glomus tumor 'malignant glomus tumor' SubClassOf 'cancer' 'malignant glomus tumor' SubClassOf 'glomus tumor' http://purl.obolibrary.org/obo/MONDO_0003358 anus leiomyosarcoma 'anus leiomyosarcoma' SubClassOf 'rectum leiomyosarcoma' 'anus leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'anus') 'anus leiomyosarcoma' SubClassOf 'anus sarcoma' http://purl.obolibrary.org/obo/MONDO_0003357 lung leiomyosarcoma 'lung leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'lung leiomyosarcoma' SubClassOf 'lung sarcoma' 'lung leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'lung') http://purl.obolibrary.org/obo/MONDO_0003351 colon leiomyosarcoma 'colon leiomyosarcoma' SubClassOf 'colon sarcoma' 'colon leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'colon') 'colon leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003352 colon sarcoma 'colon sarcoma' SubClassOf 'malignant colon neoplasm' 'colon sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'colon') 'colon sarcoma' SubClassOf 'sarcoma' 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 'rheumatic disease' 'rheumatic disease of mitral valve' EquivalentTo 'rheumatic disease' and ('disease has location' some 'mitral valve') http://purl.obolibrary.org/obo/MONDO_0042969 partial duplication of the long arm of chromosome 12 'partial duplication of the long arm of chromosome 12' SubClassOf 'partial duplication of chromosome 12' http://purl.obolibrary.org/obo/MONDO_0003369 vagina leiomyosarcoma 'vagina leiomyosarcoma' SubClassOf 'vagina sarcoma' 'vagina leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'vagina') 'vagina leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003365 esophagus leiomyosarcoma 'esophagus leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'esophagus') 'esophagus leiomyosarcoma' SubClassOf 'esophagus sarcoma' 'esophagus leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003367 gastric leiomyosarcoma 'gastric leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'stomach') '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' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'prostate gland') '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' EquivalentTo 'sarcoma' and ('disease has location' some 'small intestine') http://purl.obolibrary.org/obo/MONDO_0003362 cutaneous leiomyosarcoma 'cutaneous leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'cutaneous leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'zone of skin') 'cutaneous leiomyosarcoma' SubClassOf 'Skin Sarcoma' http://purl.obolibrary.org/obo/MONDO_0042971 congenital herpes virus infection 'congenital herpes virus infection' SubClassOf 'infectious embryofetopathy' 'congenital herpes virus infection' SubClassOf 'Herpesviridae infectious disease' http://purl.obolibrary.org/obo/MONDO_0003364 gallbladder leiomyosarcoma 'gallbladder leiomyosarcoma' SubClassOf 'gallbladder sarcoma' 'gallbladder leiomyosarcoma' SubClassOf 'liver leiomyosarcoma' 'gallbladder leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'gallbladder') http://purl.obolibrary.org/obo/MONDO_0042972 meningococcemia 'meningococcemia' SubClassOf 'bacteriemia' 'meningococcemia' SubClassOf 'meningococcal infection' http://purl.obolibrary.org/obo/MONDO_0003360 small intestine leiomyosarcoma 'small intestine leiomyosarcoma' SubClassOf 'mesenchymal tumor of small intestine' 'small intestine leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'small intestine') 'small intestine leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'small intestine leiomyosarcoma' SubClassOf 'small intestinal sarcoma' http://purl.obolibrary.org/obo/HP_0011675 Arrhythmia 'Arrhythmia' SubClassOf 'Abnormality of cardiovascular system electrophysiology' 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 sarcoma' 'extrahepatic bile duct leiomyosarcoma' SubClassOf 'liver leiomyosarcoma' 'extrahepatic bile duct leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'extrahepatic bile duct') http://purl.obolibrary.org/obo/MONDO_0003378 liver leiomyosarcoma 'liver leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'liver leiomyosarcoma' SubClassOf 'liver sarcoma' 'liver leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'liver') http://purl.obolibrary.org/obo/MONDO_0003379 rectum leiomyosarcoma 'rectum leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'rectum') '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' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'kidney') http://purl.obolibrary.org/obo/MONDO_0003374 laryngeal leiomyosarcoma 'laryngeal leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'larynx') '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' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'retroperitoneal space') http://purl.obolibrary.org/obo/MONDO_0003371 breast leiomyosarcoma 'breast leiomyosarcoma' SubClassOf 'breast sarcoma' 'breast leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'breast') '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' EquivalentTo 'clear cell adenocarcinoma' and ('disease has location' some 'urethra') 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' EquivalentTo 'clear cell adenocarcinoma' and ('disease has location' some 'hepatopancreatic ampulla') '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' EquivalentTo 'clear cell adenocarcinoma' and ('disease has location' some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0003384 uterine ligament clear cell adenocarcinoma 'uterine ligament clear cell adenocarcinoma' SubClassOf 'Cervical Clear Cell Adenocarcinoma' 'uterine ligament clear cell adenocarcinoma' EquivalentTo 'clear cell adenocarcinoma' and ('disease has location' some 'uterine ligament') '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' EquivalentTo 'clear cell adenocarcinoma' and ('disease has location' some 'urinary bladder') '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 'central nervous system endodermal sinus tumor' 'pineal region yolk sac tumor' EquivalentTo 'endodermal sinus tumor' and ('disease has location' some 'pineal body') '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' EquivalentTo 'granulosa cell tumor' and ('disease has location' some 'testis') http://purl.obolibrary.org/obo/MONDO_0003396 epulis 'epulis' EquivalentTo 'polyp' and ('disease has location' some 'gingiva') 'epulis' SubClassOf 'polyp' 'epulis' SubClassOf 'gingival overgrowth' http://purl.obolibrary.org/obo/MONDO_0003391 vulvar alveolar soft part sarcoma 'vulvar alveolar soft part sarcoma' EquivalentTo 'alveolar soft part sarcoma' and ('disease has location' some 'mammalian vulva') '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' EquivalentTo 'germ cell tumor' and ('disease has location' some 'fallopian tube') 'fallopian tube germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/HP_0045084 Limb myoclonus 'Limb myoclonus' SubClassOf 'Myoclonus' http://purl.obolibrary.org/obo/UBERON_0034681 vocal organ 'vocal organ' SubClassOf 'anatomical structure' 'vocal organ' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/MONDO_0003404 adult yolk sac tumor 'adult yolk sac tumor' SubClassOf 'adult germ cell 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' 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' 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 'central nervous system nongerminomatous germ cell tumor' 'central nervous system endodermal sinus tumor' SubClassOf 'yolk sac tumor of central nervous system' 'central nervous system endodermal sinus tumor' EquivalentTo 'endodermal sinus tumor' and ('disease has location' some 'central nervous system') 'central nervous system endodermal sinus tumor' SubClassOf 'childhood central nervous system germ cell tumor' 'central nervous system endodermal sinus tumor' SubClassOf 'central nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0003410 Wolffian duct adenocarcinoma 'Wolffian duct adenocarcinoma' SubClassOf 'mesonephric neoplasm' 'Wolffian duct adenocarcinoma' SubClassOf 'renal cell carcinoma' 'Wolffian duct adenocarcinoma' SubClassOf 'cervical adenocarcinoma' 'Wolffian duct adenocarcinoma' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'mesonephric duct') 'Wolffian duct adenocarcinoma' SubClassOf 'mesonephric adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003411 breast hemangiopericytoma 'breast hemangiopericytoma' EquivalentTo 'hemangiopericytoma' and ('disease has location' some 'breast') 'breast hemangiopericytoma' SubClassOf 'breast neoplasm' 'breast hemangiopericytoma' SubClassOf 'hemangiopericytoma' http://purl.obolibrary.org/obo/MONDO_0003412 retroperitoneal hemangiopericytoma 'retroperitoneal hemangiopericytoma' SubClassOf 'hemangiopericytoma' 'retroperitoneal hemangiopericytoma' EquivalentTo 'hemangiopericytoma' and ('disease has location' some 'retroperitoneal space') 'retroperitoneal hemangiopericytoma' SubClassOf 'retroperitoneal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003419 Bartholin gland adenoma 'Bartholin gland adenoma' SubClassOf 'vulvar glandular neoplasm' 'Bartholin gland adenoma' EquivalentTo 'adenoma' and ('disease has location' some 'major vestibular gland') 'Bartholin gland adenoma' SubClassOf 'benign epithelial neoplasm' 'Bartholin gland adenoma' SubClassOf 'adenoma' 'Bartholin gland adenoma' SubClassOf 'Bartholin gland benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003427 bronchus adenoma 'bronchus adenoma' EquivalentTo 'papillary adenoma' and ('disease has location' some 'bronchus') 'bronchus adenoma' SubClassOf 'lung adenoma' 'bronchus adenoma' SubClassOf 'papillary adenoma' 'bronchus adenoma' SubClassOf 'bronchial neoplasm' http://purl.obolibrary.org/obo/MONDO_0003420 bile duct cystadenoma 'bile duct cystadenoma' SubClassOf 'Bile Duct Adenoma' 'bile duct cystadenoma' EquivalentTo 'cystadenoma' and ('disease has location' some 'bile duct') 'bile duct cystadenoma' SubClassOf 'cystadenoma' http://purl.obolibrary.org/obo/MONDO_0003422 lung adenoma 'lung adenoma' EquivalentTo 'adenoma' and ('disease has location' some 'lung') 'lung adenoma' SubClassOf 'lung benign neoplasm' 'lung adenoma' SubClassOf 'adenoma' 'lung adenoma' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0003423 middle ear adenoma 'middle ear adenoma' SubClassOf 'adenoma' 'middle ear adenoma' SubClassOf 'benign epithelial neoplasm' 'middle ear adenoma' EquivalentTo 'adenoma' and ('disease has location' some 'middle ear') 'middle ear adenoma' SubClassOf 'benign neoplasm of middle ear' 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' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'renal pelvis') http://purl.obolibrary.org/obo/MONDO_0003209 thymus gland adenocarcinoma 'thymus gland adenocarcinoma' SubClassOf 'Thymic Carcinoma' 'thymus gland adenocarcinoma' SubClassOf 'adenocarcinoma' 'thymus gland adenocarcinoma' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'thymus') http://purl.obolibrary.org/obo/MONDO_0003216 ureter adenocarcinoma 'ureter adenocarcinoma' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'ureter') 'ureter adenocarcinoma' SubClassOf 'Ureter Carcinoma' 'ureter adenocarcinoma' SubClassOf 'adenocarcinoma' 'ureter adenocarcinoma' SubClassOf 'renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003211 nasal cavity adenocarcinoma 'nasal cavity adenocarcinoma' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'nasal cavity') 'nasal cavity adenocarcinoma' SubClassOf 'nasal cavity carcinoma' 'nasal cavity adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003234 optic nerve astrocytoma 'optic nerve astrocytoma' SubClassOf 'optic nerve glioblastoma' 'optic nerve astrocytoma' SubClassOf 'cranial nerve malignant neoplasm' 'optic nerve astrocytoma' SubClassOf 'optic tract astrocytoma' 'optic nerve astrocytoma' SubClassOf 'thalamic cancer' 'optic nerve astrocytoma' EquivalentTo 'astrocytoma' and ('disease has location' some 'cranial nerve II') http://purl.obolibrary.org/obo/GO_0005901 caveola 'caveola' SubClassOf 'membrane raft' 'caveola' SubClassOf 'part of' some 'plasma membrane' http://purl.obolibrary.org/obo/MONDO_0003248 adult pineal parenchymal tumor 'adult pineal parenchymal tumor' SubClassOf 'pineal parenchymal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003255 mediastinal granular cell myoblastoma 'mediastinal granular cell myoblastoma' EquivalentTo 'Granular Cell Tumor' and ('disease has location' some 'mediastinum') 'mediastinal granular cell myoblastoma' SubClassOf 'Granular Cell Tumor' 'mediastinal granular cell myoblastoma' SubClassOf 'neoplasm of mediastinum' http://purl.obolibrary.org/obo/MONDO_0003251 esophageal granular cell tumor 'esophageal granular cell tumor' SubClassOf 'neoplasm of esophagus' 'esophageal granular cell tumor' EquivalentTo 'Granular Cell Tumor' and ('disease has location' some 'esophagus') 'esophageal granular cell tumor' 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' http://purl.obolibrary.org/obo/MONDO_0003254 cardiac granular cell neoplasm 'cardiac granular cell neoplasm' SubClassOf 'benign neoplasm of epicardium' 'cardiac granular cell neoplasm' SubClassOf 'benign granular cell tumor' 'cardiac granular cell neoplasm' EquivalentTo 'Granular Cell Tumor' and ('disease has location' some 'heart') http://purl.obolibrary.org/obo/MONDO_0003250 benign granular cell tumor 'benign granular cell tumor' SubClassOf 'benign glioma' 'benign granular cell tumor' SubClassOf 'benign neoplasm of peripheral nervous system' 'benign granular cell tumor' SubClassOf 'Granular Cell Tumor' http://purl.obolibrary.org/obo/MONDO_0003260 adult cerebellar neoplasm 'adult cerebellar neoplasm' SubClassOf 'cerebellar neoplasm' http://purl.obolibrary.org/obo/MONDO_0003278 inner ear cancer 'inner ear cancer' SubClassOf 'malignant ear neoplasm' 'inner ear cancer' SubClassOf 'auditory system cancer' 'inner ear cancer' SubClassOf 'inner ear neoplasm' 'inner ear cancer' EquivalentTo 'cancer' and ('disease has location' some 'internal ear') http://purl.obolibrary.org/obo/MONDO_0003284 mediastinum leiomyoma 'mediastinum leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some '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' EquivalentTo 'leiomyoma' and ('disease has location' some 'fallopian tube') '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 'liver leiomyoma' 'extrahepatic bile duct leiomyoma' SubClassOf 'extrahepatic bile duct neoplasm' 'extrahepatic bile duct leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'extrahepatic bile duct') http://purl.obolibrary.org/obo/MONDO_0003287 central nervous system leiomyoma 'central nervous system leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'central nervous system') '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 'Ovarian Germ Cell Tumor' 'ovarian cystic teratoma' EquivalentTo 'cystic teratoma' and ('disease has location' some 'ovary') http://purl.obolibrary.org/obo/MONDO_0003299 colorectal leiomyoma 'colorectal leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'large intestine') 'colorectal leiomyoma' SubClassOf 'leiomyoma' 'colorectal leiomyoma' SubClassOf 'benign neoplasm of large intestine' 'colorectal leiomyoma' SubClassOf 'colorectal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003297 gallbladder leiomyoma 'gallbladder leiomyoma' SubClassOf 'liver leiomyoma' 'gallbladder leiomyoma' SubClassOf 'benign neoplasm of gallbladder' 'gallbladder leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'gallbladder') 'gallbladder leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/MONDO_0003298 vulvar leiomyoma 'vulvar leiomyoma' SubClassOf 'leiomyoma' 'vulvar leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'mammalian vulva') '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' EquivalentTo 'leiomyoma' and ('disease has location' some 'zone of skin') 'leiomyoma cutis' SubClassOf 'dermis tumor' http://purl.obolibrary.org/obo/MONDO_0003292 anus leiomyoma 'anus leiomyoma' SubClassOf 'benign neoplasm of anus' 'anus leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'anus') 'anus leiomyoma' SubClassOf 'rectum leiomyoma' http://purl.obolibrary.org/obo/MONDO_0003293 lung leiomyoma 'lung leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'lung') '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' EquivalentTo 'leiomyoma' and ('disease has location' some 'pericardium') 'pericardium leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/GO_0005977 glycogen metabolic process 'glycogen metabolic process' SubClassOf 'macromolecule metabolic process' 'glycogen metabolic process' SubClassOf 'generation of precursor metabolites and energy' 'glycogen metabolic process' SubClassOf 'carbohydrate metabolic process' http://purl.obolibrary.org/obo/GO_0005984 disaccharide metabolic process 'disaccharide metabolic process' SubClassOf 'oligosaccharide metabolic process' http://purl.obolibrary.org/obo/GO_0030849 autosome 'autosome' SubClassOf 'intracellular non-membrane-bounded organelle' http://purl.obolibrary.org/obo/CL_0002138 endothelial cell of lymphatic vessel 'endothelial cell of lymphatic vessel' SubClassOf 'endothelial cell' http://purl.obolibrary.org/obo/CL_0002187 basal cell of epidermis 'basal cell of epidermis' SubClassOf 'keratinocyte' 'basal cell of epidermis' SubClassOf 'basal cell' http://purl.obolibrary.org/obo/MONDO_0017907 primary lymphoma of the conjunctiva 'primary lymphoma of the conjunctiva' EquivalentTo 'lymphoma' and ('disease has location' some 'conjunctiva') 'primary lymphoma of the conjunctiva' SubClassOf 'primary organ-specific lymphoma' 'primary lymphoma of the conjunctiva' SubClassOf 'conjunctival cancer' 'primary lymphoma of the conjunctiva' SubClassOf 'eye lymphoma' http://purl.obolibrary.org/obo/MONDO_0003300 appendix leiomyoma 'appendix leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'vermiform appendix') 'appendix leiomyoma' SubClassOf 'benign neoplasm of appendix' 'appendix leiomyoma' SubClassOf 'colon leiomyoma' http://purl.obolibrary.org/obo/MONDO_0003103 nerve root neoplasm 'nerve root neoplasm' SubClassOf 'disease has location' some 'nerve root' 'nerve root neoplasm' SubClassOf 'tumour of cranial and spinal nerves' 'nerve root neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'nerve root') http://purl.obolibrary.org/obo/MONDO_0003104 epicardium cancer 'epicardium cancer' EquivalentTo 'cancer' and ('disease has location' some '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' EquivalentTo 'neoplasm' and ('disease has location' some 'nerve plexus') 'nerve plexus neoplasm' SubClassOf 'nerve plexus disease' 'nerve plexus neoplasm' SubClassOf 'tumour of cranial and spinal nerves' http://purl.obolibrary.org/obo/MONDO_0003124 testicular Leydig cell tumor 'testicular Leydig cell tumor' SubClassOf 'Leydig Cell Tumor' 'testicular Leydig cell tumor' EquivalentTo 'Leydig Cell Tumor' and ('disease has location' some 'testis') 'testicular Leydig cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' http://purl.obolibrary.org/obo/MONDO_0003126 breast hemangioma 'breast hemangioma' EquivalentTo 'hemangioma' and ('disease has location' some 'breast') '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' http://purl.obolibrary.org/obo/MONDO_0003153 adult brainstem glioma 'adult brainstem glioma' SubClassOf 'Brain Stem Glioma' 'adult brainstem glioma' SubClassOf 'adult brain stem neoplasm' http://purl.obolibrary.org/obo/MONDO_0003154 hemangioma of peripheral nerve 'hemangioma of peripheral nerve' SubClassOf 'central nervous system hemangioma' 'hemangioma of peripheral nerve' SubClassOf 'disease has location' some 'nerve' 'hemangioma of peripheral nerve' SubClassOf 'benign neoplasm of peripheral nervous system' 'hemangioma of peripheral nerve' EquivalentTo 'hemangioma' and ('disease has location' some 'nerve') http://purl.obolibrary.org/obo/MONDO_0003164 cauda equina neoplasm 'cauda equina neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'cauda equina') 'cauda equina neoplasm' SubClassOf 'nerve root neoplasm' 'cauda equina neoplasm' SubClassOf 'disease has location' some 'cauda equina' http://purl.obolibrary.org/obo/MONDO_0003177 prostate adenoid cystic carcinoma 'prostate adenoid cystic carcinoma' SubClassOf 'prostate adenocarcinoma' 'prostate adenoid cystic carcinoma' EquivalentTo 'adenoid cystic carcinoma' and ('disease has location' some 'prostate gland') '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' EquivalentTo 'astrocytoma' and ('disease has location' some 'pineal body') 'pineal gland astrocytoma' SubClassOf 'diencephalic astrocytomas' 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' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'middle ear') http://purl.obolibrary.org/obo/MONDO_0003186 esophageal adenoid cystic carcinoma 'esophageal adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' 'esophageal adenoid cystic carcinoma' SubClassOf 'esophageal adenocarcinoma' 'esophageal adenoid cystic carcinoma' EquivalentTo 'adenoid cystic carcinoma' and ('disease has location' some 'esophagus') 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' EquivalentTo 'adenoid cystic carcinoma' and ('disease has location' some 'major vestibular gland') 'Bartholin gland adenoid cystic carcinoma' SubClassOf 'Bartholin gland adenocarcinoma' http://purl.obolibrary.org/obo/GO_0030731 guanidinoacetate N-methyltransferase activity 'guanidinoacetate N-methyltransferase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0015108 chloride transmembrane transporter activity 'chloride transmembrane transporter activity' SubClassOf 'molecular_function' http://purl.obolibrary.org/obo/GO_0015136 sialic acid transmembrane transporter activity 'sialic acid transmembrane transporter activity' SubClassOf 'molecular_function' http://purl.obolibrary.org/obo/UBERON_0005057 immune organ 'immune organ' SubClassOf 'anatomical structure' 'immune organ' SubClassOf 'part of' some 'immune system' 'immune organ' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/GO_0015152 glucose-6-phosphate transmembrane transporter activity 'glucose-6-phosphate transmembrane transporter activity' SubClassOf 'molecular_function' http://purl.obolibrary.org/obo/CL_0002293 epithelial cell of thymus 'epithelial cell of thymus' SubClassOf 'epithelial cell' http://purl.obolibrary.org/obo/GO_0015171 amino acid transmembrane transporter activity 'amino acid transmembrane transporter activity' SubClassOf 'molecular_function' http://purl.obolibrary.org/obo/UBERON_0005090 muscle structure 'bone tissue' DisjointWith 'muscle structure' 'bone element' DisjointWith 'muscle structure' 'muscle structure' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0017617 acquired adult-onset immunodeficiency 'acquired adult-onset immunodeficiency' SubClassOf 'acquired immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0017639 carbon monoxide-induced parkinsonism 'carbon monoxide-induced parkinsonism' SubClassOf 'carbon monoxide poisoning' 'carbon monoxide-induced parkinsonism' SubClassOf 'parkinsonian disorder' http://purl.obolibrary.org/obo/MONDO_0003007 childhood kidney cell carcinoma 'childhood kidney cell carcinoma' SubClassOf 'childhood malignant kidney neoplasm' 'childhood kidney cell carcinoma' SubClassOf 'renal cell adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003003 cervical alveolar soft part sarcoma 'cervical alveolar soft part sarcoma' EquivalentTo 'alveolar soft part sarcoma' and ('disease has location' some 'uterine cervix') 'cervical alveolar soft part sarcoma' SubClassOf 'sarcoma of cervix uteri' 'cervical alveolar soft part sarcoma' SubClassOf 'alveolar soft part sarcoma' http://purl.obolibrary.org/obo/MONDO_0003017 malignant peritoneal solitary fibrous tumor 'malignant peritoneal solitary fibrous tumor' SubClassOf 'peritoneum cancer' 'malignant peritoneal solitary fibrous tumor' SubClassOf 'peritoneal solitary fibrous tumor' http://purl.obolibrary.org/obo/MONDO_0003028 thyroid sarcoma 'thyroid sarcoma' SubClassOf 'thyroid cancer' 'thyroid sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'thyroid gland') 'thyroid sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0003029 skin angiosarcoma 'skin angiosarcoma' SubClassOf 'Skin Sarcoma' 'skin angiosarcoma' EquivalentTo 'angiosarcoma' and ('disease has location' some 'zone of skin') 'skin angiosarcoma' SubClassOf 'angiosarcoma' http://purl.obolibrary.org/obo/MONDO_0003024 breast angiosarcoma 'breast angiosarcoma' EquivalentTo 'angiosarcoma' and ('disease has location' some 'breast') '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 'liver angiosarcoma' 'gallbladder angiosarcoma' EquivalentTo 'angiosarcoma' and ('disease has location' some 'gallbladder') http://purl.obolibrary.org/obo/MONDO_0003027 thyroid gland angiosarcoma 'thyroid gland angiosarcoma' EquivalentTo 'angiosarcoma' and ('disease has location' some 'thyroid gland') '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' EquivalentTo 'angiosarcoma' and ('disease has location' some 'central nervous system') 'central nervous system angiosarcoma' SubClassOf 'neurovascular disorder' '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 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0003023 aorta angiosarcoma 'aorta angiosarcoma' EquivalentTo 'angiosarcoma' and ('disease has location' some 'aorta') 'aorta angiosarcoma' SubClassOf 'angiosarcoma' 'aorta angiosarcoma' SubClassOf 'aortic malignant tumor' 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' http://purl.obolibrary.org/obo/MONDO_0003033 prostate angiosarcoma 'prostate angiosarcoma' SubClassOf 'angiosarcoma' 'prostate angiosarcoma' EquivalentTo 'angiosarcoma' and ('disease has location' some 'prostate gland') 'prostate angiosarcoma' SubClassOf 'prostate sarcoma' http://purl.obolibrary.org/obo/MONDO_0003034 mediastinum angiosarcoma 'mediastinum angiosarcoma' EquivalentTo 'angiosarcoma' and ('disease has location' some 'mediastinum') '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 'endometrial stromal sarcoma' 'endometrioid stromal sarcoma of the cervix' SubClassOf 'endometrioid stromal and related neoplasms of the cervix' 'endometrioid stromal sarcoma of the cervix' EquivalentTo 'endometrial stromal sarcoma' and ('disease has location' some 'uterine cervix') 'endometrioid stromal sarcoma of the cervix' SubClassOf 'sarcoma of cervix uteri' http://purl.obolibrary.org/obo/MONDO_0003047 thymic large cell neuroendocrine carcinoma 'thymic large cell neuroendocrine carcinoma' SubClassOf 'thymic neuroendocrine carcinoma' 'thymic large cell neuroendocrine carcinoma' SubClassOf 'large cell neuroendocrine carcinoma' 'thymic large cell neuroendocrine carcinoma' EquivalentTo 'large cell neuroendocrine carcinoma' and ('disease has location' some 'thymus') http://purl.obolibrary.org/obo/MONDO_0003042 adult 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 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0027029 HHV-6 encephalitis 'HHV-6 encephalitis' SubClassOf 'viral encephalitis' 'HHV-6 encephalitis' SubClassOf 'Roseolovirus infectious disease' 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 'reproductive system cancer' http://purl.obolibrary.org/obo/MONDO_0003057 pediatric meningioma 'pediatric meningioma' SubClassOf 'childhood neoplasm' 'pediatric meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0003053 choroid plexus meningioma 'choroid plexus meningioma' EquivalentTo 'meningioma' and ('disease has location' some 'choroid plexus') 'choroid plexus meningioma' SubClassOf 'intraventricular meningioma' 'choroid plexus meningioma' SubClassOf 'choroid plexus cancer' http://purl.obolibrary.org/obo/MONDO_0003054 benign meningioma 'benign meningioma' SubClassOf 'meningioma' 'benign meningioma' SubClassOf 'benign neoplasm of meninges' http://purl.obolibrary.org/obo/MONDO_0003066 submandibular adenitis 'submandibular adenitis' SubClassOf 'submandibular gland disorder' 'submandibular adenitis' SubClassOf 'sialadenitis' 'submandibular adenitis' EquivalentTo 'lymphadenitis' and ('disease has location' some 'submandibular gland') 'submandibular adenitis' SubClassOf 'cervical lymphadenitis' http://purl.obolibrary.org/obo/MONDO_0003067 cervical lymphadenitis 'cervical lymphadenitis' EquivalentTo 'lymphadenitis' and ('disease has location' some 'neck') 'cervical lymphadenitis' SubClassOf 'disease has location' some 'neck' 'cervical lymphadenitis' SubClassOf 'lymphadenitis' http://purl.obolibrary.org/obo/CL_0002312 somatotroph 'somatotroph' SubClassOf 'chromaffin cell' http://purl.obolibrary.org/obo/GO_0005747 mitochondrial respiratory chain complex I 'mitochondrial respiratory chain complex I' SubClassOf 'cellular_component' 'mitochondrial respiratory chain complex I' SubClassOf 'part of' some 'mitochondrion' 'mitochondrial respiratory chain complex I' SubClassOf 'part of' some 'membrane' http://purl.obolibrary.org/obo/MONDO_0003086 thymic mucoepidermoid carcinoma 'thymic mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'thymic mucoepidermoid carcinoma' SubClassOf 'thymus gland adenocarcinoma' 'thymic mucoepidermoid carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and ('disease has location' some 'thymus') http://purl.obolibrary.org/obo/MONDO_0003087 mucoepidermoid breast carcinoma 'mucoepidermoid breast carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'mucoepidermoid breast carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and ('disease has location' some 'breast') 'mucoepidermoid breast carcinoma' SubClassOf 'Invasive Breast Carcinoma' 'mucoepidermoid breast carcinoma' SubClassOf 'breast adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003089 extrahepatic bile duct mucoepidermoid carcinoma 'extrahepatic bile duct mucoepidermoid carcinoma' SubClassOf 'extrahepatic bile duct mucinous adenocarcinoma' 'extrahepatic bile duct mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'extrahepatic bile duct mucoepidermoid carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and ('disease has location' some 'extrahepatic bile duct') http://purl.obolibrary.org/obo/MONDO_0003091 cutaneous mucoepidermoid carcinoma 'cutaneous mucoepidermoid carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and ('disease has location' some 'zone of skin') 'cutaneous mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'cutaneous mucoepidermoid carcinoma' SubClassOf 'skin carcinoma' http://purl.obolibrary.org/obo/MONDO_0003092 lacrimal gland mucoepidermoid carcinoma 'lacrimal gland mucoepidermoid carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and ('disease has location' some 'lacrimal gland') 'lacrimal gland mucoepidermoid carcinoma' SubClassOf 'cutaneous mucoepidermoid carcinoma' 'lacrimal gland mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'lacrimal gland mucoepidermoid carcinoma' SubClassOf 'lacrimal gland adenocarcinoma' http://purl.obolibrary.org/obo/GO_0005750 mitochondrial respiratory chain complex III 'mitochondrial respiratory chain complex III' SubClassOf 'cellular_component' 'mitochondrial respiratory chain complex III' SubClassOf 'part of' some 'mitochondrion' 'mitochondrial respiratory chain complex III' SubClassOf 'part of' some 'membrane' http://purl.obolibrary.org/obo/GO_0005753 mitochondrial proton-transporting ATP synthase complex 'mitochondrial proton-transporting ATP synthase complex' SubClassOf 'cellular_component' 'mitochondrial proton-transporting ATP synthase complex' SubClassOf 'part of' some 'membrane' 'mitochondrial proton-transporting ATP synthase complex' SubClassOf 'part of' some 'mitochondrion' 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' http://purl.obolibrary.org/obo/MONDO_0003093 mucoepidermoid esophageal carcinoma 'mucoepidermoid esophageal carcinoma' SubClassOf 'esophageal adenocarcinoma' 'mucoepidermoid esophageal carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and ('disease has location' some 'esophagus') 'mucoepidermoid esophageal carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://purl.obolibrary.org/obo/CL_0002328 bronchial epithelial cell 'bronchial epithelial cell' SubClassOf 'respiratory epithelial cell' 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' EquivalentTo 'mucoepidermoid carcinoma' and ('disease has location' some 'larynx') http://purl.obolibrary.org/obo/GO_0005777 peroxisome 'peroxisome' SubClassOf 'part of' some 'cytoplasm' 'peroxisome' SubClassOf 'intracellular membrane-bounded organelle' http://purl.obolibrary.org/obo/GO_0015068 glycine amidinotransferase activity 'glycine amidinotransferase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0017588 nail tumor 'nail tumor' SubClassOf 'nail disorder' 'nail tumor' EquivalentTo 'neoplasm' and ('disease has location' some 'nail') 'nail tumor' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/GO_0005652 nuclear lamina 'nuclear lamina' SubClassOf 'cellular_component' http://purl.obolibrary.org/obo/CL_0002494 cardiocyte 'cardiocyte' SubClassOf 'cell' http://purl.obolibrary.org/obo/GO_0005579 membrane attack complex 'membrane attack complex' SubClassOf 'cellular_component' 'membrane attack complex' SubClassOf 'part of' some 'plasma membrane' 'membrane attack complex' SubClassOf 'part of' some 'membrane' http://purl.obolibrary.org/obo/GO_0005581 collagen trimer 'collagen trimer' SubClassOf 'cellular_component' http://purl.obolibrary.org/obo/GO_0005585 collagen type II trimer 'collagen type II trimer' SubClassOf 'collagen trimer' http://purl.obolibrary.org/obo/GO_0030521 androgen receptor signaling pathway 'androgen receptor signaling pathway' SubClassOf 'hormone-mediated signaling pathway' http://purl.obolibrary.org/obo/GO_0005594 collagen type IX trimer 'collagen type IX trimer' SubClassOf 'collagen trimer' http://purl.obolibrary.org/obo/MONDO_0023283 ovarian granulosa cell tumor 'ovarian granulosa cell tumor' EquivalentTo 'granulosa cell tumor' and ('disease has location' some 'ovary') 'ovarian granulosa cell tumor' SubClassOf 'ovarian sex cord-stromal tumor' 'ovarian granulosa cell tumor' SubClassOf 'granulosa cell tumor' 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 'ATP1A3-associated neurological disorder' http://purl.obolibrary.org/obo/GO_0030416 methylamine metabolic process 'methylamine metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0013953 immunodeficiency 28 'immunodeficiency 28' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0013966 catecholaminergic polymorphic ventricular tachycardia 4 'catecholaminergic polymorphic ventricular tachycardia 4' SubClassOf 'catecholaminergic polymorphic ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0013978 autosomal recessive nonsyndromic hearing loss 70 'autosomal recessive nonsyndromic hearing loss 70' SubClassOf 'hearing loss, autosomal recessive' 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' http://purl.obolibrary.org/obo/GO_0030424 axon 'axon' SubClassOf 'neuron projection' http://purl.obolibrary.org/obo/MONDO_0023161 viral myocarditis 'viral myocarditis' EquivalentTo 'infectious disease' and ('disease has primary infectious agent' some 'Virus') and ('disease has inflammation site' some 'myocardium') 'viral myocarditis' SubClassOf 'primary viral infectious disease' 'viral myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/MONDO_0023164 viral pericarditis 'viral pericarditis' SubClassOf 'pericarditis' 'viral pericarditis' SubClassOf 'primary viral infectious disease' 'viral pericarditis' EquivalentTo 'infectious disease' and ('disease has primary infectious agent' some 'Virus') and ('disease has inflammation site' some 'pericardium') http://purl.obolibrary.org/obo/UBERON_0005425 presumptive neural retina 'presumptive neural retina' SubClassOf 'part of' some 'embryo' 'presumptive neural retina' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/UBERON_0005431 anterior spinal artery 'anterior spinal artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/HP_0031097 Abnormal thyroid-stimulating hormone level 'Abnormal thyroid-stimulating hormone level' SubClassOf 'Abnormal circulating hormone concentration' http://purl.obolibrary.org/obo/UBERON_0005406 perirenal fat 'perirenal fat' SubClassOf 'adipose tissue' http://purl.obolibrary.org/obo/MONDO_0013801 developmental and epileptic encephalopathy, 13 'developmental and epileptic encephalopathy, 13' SubClassOf 'neonatal-onset developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 13' SubClassOf 'undetermined early-onset epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013826 autosomal recessive nonsyndromic hearing loss 86 'autosomal recessive nonsyndromic hearing loss 86' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0013829 UV-sensitive syndrome 2 'UV-sensitive syndrome 2' SubClassOf 'UV-sensitive syndrome' http://purl.obolibrary.org/obo/GO_0005355 glucose transmembrane transporter activity 'glucose transmembrane transporter activity' SubClassOf 'molecular_function' 'glucose transmembrane transporter activity' SubClassOf 'part of' some 'glucose transmembrane transport' http://purl.obolibrary.org/obo/MONDO_0013859 cataract 38 'cataract 38' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0013872 prostate cancer, hereditary, 2 'prostate cancer, hereditary, 2' SubClassOf 'familial prostate carcinoma' http://purl.obolibrary.org/obo/GO_0005381 iron ion transmembrane transporter activity 'iron ion transmembrane transporter activity' SubClassOf 'molecular_function' 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 'hereditary neoplastic syndrome' 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' http://purl.obolibrary.org/obo/MONDO_0013893 multiple sclerosis, susceptibility to, 5 'multiple sclerosis, susceptibility to, 5' SubClassOf 'multiple sclerosis, susceptibility to' 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' http://purl.obolibrary.org/obo/MONDO_0013896 Joubert syndrome 18 'Joubert syndrome 18' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/UBERON_0005305 thyroid follicle 'thyroid follicle' SubClassOf 'anatomical structure' 'thyroid follicle' SubClassOf 'part of' some 'thyroid gland' http://purl.obolibrary.org/obo/GO_0019915 lipid storage 'lipid storage' SubClassOf 'biological_process' 'lipid storage' SubClassOf 'part of' some 'lipid localization' http://purl.obolibrary.org/obo/GO_0019853 L-ascorbic acid biosynthetic process 'L-ascorbic acid biosynthetic process' SubClassOf 'vitamin metabolic process' 'L-ascorbic acid biosynthetic process' SubClassOf 'carbohydrate metabolic process' 'L-ascorbic acid biosynthetic process' SubClassOf 'heterocycle biosynthetic process' 'L-ascorbic acid biosynthetic process' SubClassOf 'organic cyclic compound biosynthetic process' 'L-ascorbic acid biosynthetic process' SubClassOf 'organic acid metabolic process' http://purl.obolibrary.org/obo/GO_0005243 gap junction channel activity 'gap junction channel activity' SubClassOf 'molecular_function' http://purl.obolibrary.org/obo/MONDO_0013751 cutis laxa, autosomal dominant 2 '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' http://purl.obolibrary.org/obo/GO_0005262 calcium channel activity 'calcium channel activity' SubClassOf 'molecular_function' http://purl.obolibrary.org/obo/MONDO_0013750 atrial septal defect 8 'atrial septal defect 8' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0013768 arterial calcification, generalized, of infancy, 2 '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' http://purl.obolibrary.org/obo/MONDO_0013766 familial cold autoinflammatory syndrome 3 'familial cold autoinflammatory syndrome 3' SubClassOf 'familial cold autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0013774 trigonocephaly 2 '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' 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' http://purl.obolibrary.org/obo/MONDO_0037738 cauda equina cancer 'cauda equina cancer' SubClassOf 'cauda equina neoplasm' 'cauda equina cancer' EquivalentTo 'cancer' and ('disease has location' some 'cauda equina') '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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'cauda equina') 'benign neoplasm of cauda equina' SubClassOf 'benign neoplasm of peripheral nervous system' http://purl.obolibrary.org/obo/MONDO_0013783 microphthalmia, isolated, with coloboma 7 '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' http://purl.obolibrary.org/obo/HP_0031348 Dextrotransposition of the great arteries 'Dextrotransposition of the great arteries' SubClassOf 'Abnormal heart morphology' 'Dextrotransposition of the great arteries' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/MONDO_0013795 fibrochondrogenesis 2 'fibrochondrogenesis 2' SubClassOf 'fibrochondrogenesis' http://purl.obolibrary.org/obo/MONDO_0013790 mirror movements 2 'mirror movements 2' SubClassOf 'familial congenital mirror movements' http://purl.obolibrary.org/obo/MONDO_0023143 fetal enterovirus syndrome 'fetal enterovirus syndrome' SubClassOf 'Enterovirus infectious disease' 'fetal enterovirus syndrome' SubClassOf 'infectious embryofetopathy' 'fetal enterovirus syndrome' SubClassOf 'syndromic disease' 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 blood coagulation disorder' http://purl.obolibrary.org/obo/GO_0030195 negative regulation of blood coagulation 'negative regulation of blood coagulation' SubClassOf 'negative regulation of wound healing' http://purl.obolibrary.org/obo/HP_0031258 Delirium 'Delirium' SubClassOf 'Confusion' http://purl.obolibrary.org/obo/HP_0031247 Whooping cough 'Whooping cough' SubClassOf 'Cough' http://purl.obolibrary.org/obo/GO_0019814 immunoglobulin complex 'immunoglobulin complex' SubClassOf 'cellular_component' http://purl.obolibrary.org/obo/UBERON_0005295 sex cord 'sex cord' SubClassOf 'part of' some 'embryo' 'sex cord' SubClassOf 'part of' some 'embryonic structure' 'sex cord' SubClassOf 'epithelium' 'sex cord' SubClassOf 'part of' some 'multicellular organism' http://purl.obolibrary.org/obo/MONDO_0013602 paragangliomas 5 'paragangliomas 5' SubClassOf 'hereditary pheochromocytoma-paraganglioma' 'paragangliomas 5' SubClassOf 'central nervous system cancer' 'paragangliomas 5' SubClassOf 'Malignant Urinary System Neoplasm' 'paragangliomas 5' SubClassOf 'adrenal gland cancer' 'paragangliomas 5' SubClassOf 'peripheral nervous system cancer' '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' http://purl.obolibrary.org/obo/MONDO_0013612 geleophysic dysplasia 2 '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' 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' http://purl.obolibrary.org/obo/MONDO_0013624 Rafiq syndrome 'Rafiq syndrome' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/CL_0002064 pancreatic acinar cell 'pancreatic acinar cell' SubClassOf 'epithelial cell of pancreas' 'pancreatic acinar cell' SubClassOf 'acinar cell' 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' http://purl.obolibrary.org/obo/GO_0030103 vasopressin secretion 'vasopressin secretion' SubClassOf 'hormone secretion' http://purl.obolibrary.org/obo/GO_0005183 gonadotropin hormone-releasing hormone activity 'gonadotropin hormone-releasing hormone activity' SubClassOf 'molecular_function' 'gonadotropin hormone-releasing hormone activity' SubClassOf 'part of' some 'signal transduction' http://purl.obolibrary.org/obo/MONDO_0013679 sclerosteosis 2 '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' http://purl.obolibrary.org/obo/MONDO_0013685 pancreatic cancer, susceptibility to, 4 'pancreatic cancer, susceptibility to, 4' SubClassOf 'hereditary neoplastic syndrome' 'pancreatic cancer, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Malignant Pancreatic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0013690 Pitt-Hopkins-like syndrome 2 'Pitt-Hopkins-like syndrome 2' SubClassOf 'genetic disorder' 'Pitt-Hopkins-like syndrome 2' SubClassOf 'Pitt-Hopkins-like syndrome' 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' http://purl.obolibrary.org/obo/MONDO_0013489 autosomal recessive nonsyndromic hearing loss 89 'autosomal recessive nonsyndromic hearing loss 89' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/GO_0030057 desmosome 'desmosome' SubClassOf 'cellular_component' http://purl.obolibrary.org/obo/MONDO_0013498 schizophrenia 15 'schizophrenia 15' SubClassOf 'schizophrenia' 'schizophrenia 15' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/GO_0030073 insulin secretion 'insulin secretion' SubClassOf 'hormone secretion' 'insulin secretion' SubClassOf 'protein secretion' http://purl.obolibrary.org/obo/UBERON_0005989 atrioventricular septum 'atrioventricular septum' SubClassOf 'heart component' 'atrioventricular septum' SubClassOf 'part of' some 'heart' http://purl.obolibrary.org/obo/UBERON_0005985 coronary vessel 'coronary vessel' SubClassOf 'heart component' 'coronary vessel' SubClassOf 'vessel' 'coronary vessel' SubClassOf 'part of' some 'heart' 'coronary vessel' EquivalentTo 'vessel' and ('part of' some 'heart') http://purl.obolibrary.org/obo/UBERON_0005983 heart layer 'heart layer' SubClassOf 'heart component' 'heart layer' SubClassOf 'part of' some 'heart' 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' http://purl.obolibrary.org/obo/MONDO_0013518 pituitary hormone deficiency, combined, 6 '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' http://purl.obolibrary.org/obo/MONDO_0013514 hypotrichosis 3 'hypotrichosis 3' SubClassOf 'hypotrichosis' 'hypotrichosis 3' SubClassOf 'hypotrichosis simplex of the scalp' http://purl.obolibrary.org/obo/MONDO_0013527 lissencephaly 4 'lissencephaly 4' SubClassOf 'microcephaly with lissencephaly and/or hydranencephaly' 'lissencephaly 4' SubClassOf 'microlissencephaly' http://purl.obolibrary.org/obo/MONDO_0013530 atrial fibrillation, familial, 10 'atrial fibrillation, familial, 10' SubClassOf 'familial atrial fibrillation' http://purl.obolibrary.org/obo/MONDO_0013542 Moyamoya disease 5 'Moyamoya disease 5' SubClassOf 'Moyamoya disease' http://purl.obolibrary.org/obo/MONDO_0013545 atrial fibrillation, familial, 12 'atrial fibrillation, familial, 12' SubClassOf 'familial atrial fibrillation' 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 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0013567 atrial septal defect 3 'atrial septal defect 3' SubClassOf 'atrial heart septal defect' http://purl.obolibrary.org/obo/MONDO_0013369 hypertrophic cardiomyopathy 7 'hypertrophic cardiomyopathy 7' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013377 isolated microphthalmia 7 'isolated microphthalmia 7' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' 'isolated microphthalmia 7' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0013398 acne inversa, familial, 3 'acne inversa, familial, 3' SubClassOf 'familial acne inversa' http://purl.obolibrary.org/obo/MONDO_0037398 pneumonia caused by pseudomonas aeruginosa infection 'pneumonia caused by pseudomonas aeruginosa infection' SubClassOf 'bacterial pneumonia' 'pneumonia caused by pseudomonas aeruginosa infection' SubClassOf 'Pseudomonas aeruginosa infectious 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' http://purl.obolibrary.org/obo/MONDO_0013401 hereditary spastic paraplegia 51 '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' http://purl.obolibrary.org/obo/MONDO_0013412 hypertrophic cardiomyopathy 9 'hypertrophic cardiomyopathy 9' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 9' SubClassOf 'autosomal dominant titinopathy' http://purl.obolibrary.org/obo/MONDO_0013420 age related macular degeneration 12 'age related macular degeneration 12' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/HP_0006476 Abnormality of the pancreatic islet cells 'Abnormality of the pancreatic islet cells' SubClassOf 'Abnormality of the abdominal organs' 'Abnormality of the pancreatic islet cells' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/MONDO_0013453 Leber congenital amaurosis 8 'Leber congenital amaurosis 8' SubClassOf 'Leber congenital amaurosis' 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.' 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 'dextro-looped transposition of the great arteries' http://purl.obolibrary.org/obo/MONDO_0013247 Fanconi renotubular syndrome 2 'Fanconi renotubular syndrome 2' SubClassOf 'primary Fanconi syndrome' 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' http://purl.obolibrary.org/obo/MONDO_0013278 lymphatic malformation 3 'lymphatic malformation 3' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0037250 childhood testicular neoplasm 'childhood testicular neoplasm' SubClassOf 'childhood neoplasm' 'childhood testicular neoplasm' SubClassOf 'neoplasm of testis' http://purl.obolibrary.org/obo/UBERON_0005777 glomerular basement membrane 'glomerular basement membrane' SubClassOf 'part of' some 'renal glomerulus' 'glomerular basement membrane' SubClassOf 'anatomical structure' 'glomerular basement membrane' SubClassOf 'part of' some 'epithelium' 'glomerular basement membrane' SubClassOf 'part of' some 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0003909 Bartholin gland adenomyoma 'Bartholin gland adenomyoma' SubClassOf 'vulvar glandular neoplasm' 'Bartholin gland adenomyoma' EquivalentTo 'adenomyoma' and ('disease has location' some 'major vestibular gland') 'Bartholin gland adenomyoma' SubClassOf 'adenomyoma' 'Bartholin gland adenomyoma' SubClassOf 'benign epithelial neoplasm' 'Bartholin gland adenomyoma' SubClassOf 'Bartholin gland benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003902 brain stem hemangioblastoma 'brain stem hemangioblastoma' SubClassOf 'intracranial hemangioma' 'brain stem hemangioblastoma' SubClassOf 'hemangioblastoma' 'brain stem hemangioblastoma' EquivalentTo 'hemangioblastoma' and ('disease has location' some 'brainstem') 'brain stem hemangioblastoma' SubClassOf 'benign neoplasm of brain stem' 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' EquivalentTo 'Mixed Cell Uveal Melanoma' and ('disease has location' some 'ciliary body') 'ciliary body mixed cell melanoma' SubClassOf 'Mixed Cell Uveal Melanoma' http://purl.obolibrary.org/obo/MONDO_0003917 heart lymphoma 'heart lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'heart') 'heart lymphoma' SubClassOf 'heart cancer' 'heart lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0003912 malignant ciliary body melanoma 'malignant ciliary body melanoma' EquivalentTo 'melanoma' and ('disease has location' some 'ciliary body') 'malignant ciliary body melanoma' SubClassOf 'ciliary body cancer' 'malignant ciliary body melanoma' SubClassOf 'iris melanoma' 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' EquivalentTo 'Mixed Cell Uveal Melanoma' and ('disease has location' some 'optic choroid') http://purl.obolibrary.org/obo/CHEBI_26948 vitamin B1 'vitamin B1' SubClassOf 'organic heterocyclic compound' 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' http://purl.obolibrary.org/obo/MONDO_0003925 ethmoid sinus inverted papilloma 'ethmoid sinus inverted papilloma' EquivalentTo 'inverted papilloma' and ('disease has location' some 'ethmoid sinus') 'ethmoid sinus inverted papilloma' SubClassOf 'ethmoid sinus Schneiderian papilloma' 'ethmoid sinus inverted papilloma' SubClassOf 'inverted 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 'pleural neoplasm' 'neurilemmoma of the pleura' EquivalentTo 'schwannoma' and ('disease has location' some 'pleura') http://purl.obolibrary.org/obo/MONDO_0003930 non-invasive bladder urothelial carcinoma 'non-invasive bladder urothelial carcinoma' SubClassOf 'bladder transitional cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003931 childhood optic tract astrocytoma 'childhood optic tract astrocytoma' SubClassOf 'optic tract astrocytoma' 'childhood optic tract astrocytoma' SubClassOf 'childhood cerebral astrocytoma' http://purl.obolibrary.org/obo/MONDO_0003932 childhood optic nerve glioma 'childhood optic nerve glioma' SubClassOf 'optic nerve glioblastoma' 'childhood optic nerve glioma' SubClassOf 'childhood neoplasm' http://purl.obolibrary.org/obo/MONDO_0003934 breast apocrine carcinoma 'breast apocrine carcinoma' EquivalentTo 'apocrine adenocarcinoma' and ('disease has location' some 'breast') '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 'invasive breast ductal carcinoma' http://purl.obolibrary.org/obo/MONDO_0003944 endobronchial leiomyoma 'endobronchial leiomyoma' SubClassOf 'bronchial neoplasm' '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' http://purl.obolibrary.org/obo/MONDO_0003946 vaginal villous adenoma 'vaginal villous adenoma' SubClassOf 'vaginal adenoma' 'vaginal villous adenoma' EquivalentTo 'villous adenoma' and ('disease has location' some 'vagina') 'vaginal villous adenoma' SubClassOf 'villous adenoma' 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' http://purl.obolibrary.org/obo/MONDO_0003953 pediatric CNS choriocarcinoma 'pediatric CNS choriocarcinoma' SubClassOf 'choriocarcinoma of the central nervous system' 'pediatric CNS choriocarcinoma' SubClassOf 'childhood central nervous system germ cell tumor' 'pediatric CNS choriocarcinoma' SubClassOf 'malignant childhood germ cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003954 angiokeratoma of Fordyce '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' EquivalentTo 'carcinoma' and ('disease has location' some 'nipple') http://purl.obolibrary.org/obo/MONDO_0003951 scrotal hemangioma 'scrotal hemangioma' EquivalentTo 'hemangioma' and ('disease has location' some 'scrotum') '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' http://purl.obolibrary.org/obo/MONDO_0003958 childhood central nervous system immature teratoma 'childhood central nervous system immature teratoma' SubClassOf 'childhood central nervous system germ cell tumor' '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' EquivalentTo 'large cell neuroendocrine carcinoma' and ('disease has location' some 'breast') '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' EquivalentTo 'large cell neuroendocrine carcinoma' and ('disease has location' some 'lung') '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 'Thymic Carcinoma' 'malignant type AB thymoma' SubClassOf 'Thymoma Type AB' 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' EquivalentTo 'cystadenoma' and ('disease has location' some 'intrahepatic bile duct') http://purl.obolibrary.org/obo/MONDO_0003997 colon Kaposi sarcoma 'colon Kaposi sarcoma' SubClassOf 'colorectal Kaposi sarcoma' 'colon Kaposi sarcoma' SubClassOf 'colon sarcoma' 'colon Kaposi sarcoma' EquivalentTo 'Kaposi's sarcoma' and ('disease has location' some 'colon') http://purl.obolibrary.org/obo/MONDO_0003990 malignant breast myoepithelioma 'malignant breast myoepithelioma' EquivalentTo 'malignant myoepithelioma' and ('disease has location' some 'breast') '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_0013326 Senior-Loken syndrome 7 'Senior-Loken syndrome 7' SubClassOf 'Senior-Loken syndrome' http://purl.obolibrary.org/obo/MONDO_0013340 Parkinson disease 5, autosomal dominant, susceptibility to 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf 'inherited disease susceptibility' 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0003796 rectum Kaposi sarcoma 'rectum Kaposi sarcoma' SubClassOf 'colorectal Kaposi sarcoma' 'rectum Kaposi sarcoma' EquivalentTo 'Kaposi's sarcoma' and ('disease has location' some 'rectum') 'rectum Kaposi sarcoma' SubClassOf 'rectum sarcoma' 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' http://purl.obolibrary.org/obo/GO_0019395 fatty acid oxidation 'fatty acid oxidation' SubClassOf 'fatty acid metabolic process' http://purl.obolibrary.org/obo/MONDO_0037105 lung germ cell tumor 'lung germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'lung germ cell tumor' EquivalentTo 'germ cell tumor' and ('disease has location' some 'lung') 'lung germ cell tumor' SubClassOf 'lung neoplasm' http://purl.obolibrary.org/obo/MONDO_0013137 choroidal dystrophy, central areolar 2 'choroidal dystrophy, central areolar 2' SubClassOf 'central areolar choroidal dystrophy' http://purl.obolibrary.org/obo/MONDO_0013130 isolated microphthalmia 4 'isolated microphthalmia 4' SubClassOf 'isolated anophthalmia-microphthalmia syndrome' 'isolated microphthalmia 4' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0013148 Brugada syndrome 8 'Brugada syndrome 8' SubClassOf 'Brugada syndrome' http://purl.obolibrary.org/obo/MONDO_0013140 candidiasis, familial, 4 'candidiasis, familial, 4' SubClassOf 'chronic mucocutaneous candidiasis' http://purl.obolibrary.org/obo/GO_0044381 glucose import in response to insulin stimulus 'glucose import in response to insulin stimulus' SubClassOf 'glucose transmembrane transport' http://purl.obolibrary.org/obo/MONDO_0013175 retinitis pigmentosa 50 'retinitis pigmentosa 50' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/HP_0041051 Ageusia 'Ageusia' SubClassOf 'Abnormality of taste sensation' http://purl.obolibrary.org/obo/MONDO_0013186 Noonan syndrome 6 'Noonan syndrome 6' SubClassOf 'Noonan syndrome' http://purl.obolibrary.org/obo/MONDO_0013191 focal segmental glomerulosclerosis 5 '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' http://purl.obolibrary.org/obo/UBERON_0005631 extraembryonic membrane 'extraembryonic membrane' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/HP_0006685 Endocardial fibrosis 'Endocardial fibrosis' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/MONDO_0003801 corneal intraepithelial neoplasm 'corneal intraepithelial neoplasm' SubClassOf 'squamous cell intraepithelial neoplasia' 'corneal intraepithelial neoplasm' EquivalentTo 'squamous cell intraepithelial neoplasia' and ('disease has location' some 'cornea') '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' EquivalentTo 'osteosarcoma' and ('disease has location' some 'mediastinum') http://purl.obolibrary.org/obo/MONDO_0003809 malignant mediastinum hemangiopericytoma 'malignant mediastinum hemangiopericytoma' SubClassOf 'neoplasm of mediastinum' 'malignant mediastinum hemangiopericytoma' EquivalentTo 'hemangiopericytoma' and ('disease has location' some 'mediastinum') 'malignant mediastinum hemangiopericytoma' SubClassOf 'hemangiopericytoma, malignant' http://purl.obolibrary.org/obo/MONDO_0003802 cornea cancer 'cornea cancer' EquivalentTo 'cancer' and ('disease has location' some 'cornea') 'cornea cancer' SubClassOf 'ocular cancer' 'cornea cancer' SubClassOf 'cornea neoplasm' http://purl.obolibrary.org/obo/MONDO_0003819 childhood teratoma of the ovary 'childhood teratoma of the ovary' SubClassOf 'pediatric ovarian germ cell tumor' 'childhood teratoma of the ovary' SubClassOf 'ovarian teratoma' http://purl.obolibrary.org/obo/MONDO_0003821 ovarian biphasic or triphasic 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' http://purl.obolibrary.org/obo/MONDO_0003828 growth hormone-producing pituitary gland carcinoma 'growth hormone-producing pituitary gland carcinoma' SubClassOf 'head and neck carcinoma' 'growth hormone-producing pituitary gland carcinoma' EquivalentTo 'carcinoma' and ('realized in' some 'growth hormone secretion') and ('disease has location' some 'pituitary gland') 'growth hormone-producing pituitary gland carcinoma' SubClassOf 'bone carcinoma' 'growth hormone-producing pituitary gland carcinoma' SubClassOf 'pituitary cancer' '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 'inherited kidney disorder' http://purl.obolibrary.org/obo/MONDO_0003825 kidney oncocytoma 'kidney oncocytoma' EquivalentTo 'oncocytic neoplasm' and ('disease has location' some 'kidney') 'kidney oncocytoma' SubClassOf 'oncocytic neoplasm' 'kidney oncocytoma' SubClassOf 'benign epithelial neoplasm' 'kidney oncocytoma' SubClassOf 'kidney benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003826 mediastinum seminoma 'mediastinum seminoma' EquivalentTo 'seminoma' and ('disease has location' some 'mediastinum') 'mediastinum seminoma' SubClassOf 'Mediastinal Malignant Germ Cell Tumor' 'mediastinum seminoma' SubClassOf 'extragonadal seminoma' 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' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'cardia of stomach') 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' EquivalentTo 'childhood astrocytic tumor' and ('disease has location' some 'cerebellum') http://purl.obolibrary.org/obo/MONDO_0003843 cerebral hemisphere lipoma 'cerebral hemisphere lipoma' SubClassOf 'benign neoplasm of cerebrum' 'cerebral hemisphere lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'cerebral hemisphere') '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' EquivalentTo 'lipoma' and ('disease has location' some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0003840 epicardium lipoma 'epicardium lipoma' SubClassOf 'heart lipoma' 'epicardium lipoma' SubClassOf 'benign neoplasm of epicardium' 'epicardium lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'epicardium') http://purl.obolibrary.org/obo/MONDO_0003841 heart lipoma 'heart lipoma' SubClassOf 'lipoma' 'heart lipoma' SubClassOf 'benign neoplasm of heart' 'heart lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'heart') http://purl.obolibrary.org/obo/HP_0031694 Severe adenovirus infection 'Severe adenovirus infection' SubClassOf 'Abnormality of the immune system' http://purl.obolibrary.org/obo/MONDO_0003846 viral esophagitis 'viral esophagitis' SubClassOf 'digestive system infectious disorder' 'viral esophagitis' SubClassOf 'viral disease' 'viral esophagitis' SubClassOf 'esophagitis' http://purl.obolibrary.org/obo/MONDO_0003853 Bartholin gland adenocarcinoma 'Bartholin gland adenocarcinoma' SubClassOf 'vulvar adenocarcinoma' 'Bartholin gland adenocarcinoma' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'major vestibular gland') 'Bartholin gland adenocarcinoma' SubClassOf 'Bartholin Gland Carcinoma' http://purl.obolibrary.org/obo/MONDO_0003856 adult malignant hemangiopericytoma 'adult malignant hemangiopericytoma' SubClassOf 'hemangiopericytoma, malignant' http://purl.obolibrary.org/obo/MONDO_0003866 liver extraskeletal osteosarcoma 'liver extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'liver extraskeletal osteosarcoma' EquivalentTo 'osteosarcoma' and ('disease has location' some 'liver') 'liver extraskeletal osteosarcoma' SubClassOf 'liver sarcoma' http://purl.obolibrary.org/obo/MONDO_0003861 vulvar eccrine adenocarcinoma 'vulvar eccrine adenocarcinoma' EquivalentTo 'eccrine carcinoma' and ('disease has location' some 'mammalian vulva') 'vulvar eccrine adenocarcinoma' SubClassOf 'vulvar adenocarcinoma' 'vulvar eccrine adenocarcinoma' SubClassOf 'eccrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0003876 eyelid carcinoma 'eyelid carcinoma' SubClassOf 'skin carcinoma' 'eyelid carcinoma' EquivalentTo 'carcinoma' and ('disease has location' some 'eyelid') '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' EquivalentTo 'melanoma' and ('disease has location' some 'optic choroid') 'malignant choroid melanoma' SubClassOf 'choroid cancer' http://purl.obolibrary.org/obo/MONDO_0003870 childhood brainstem astrocytoma 'childhood brainstem astrocytoma' SubClassOf 'childhood astrocytic tumor' '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' http://purl.obolibrary.org/obo/MONDO_0003887 ovarian mucinous adenofibroma 'ovarian mucinous adenofibroma' SubClassOf 'ovarian epithelial tumor' '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' EquivalentTo 'fibrosarcoma' and ('disease has location' some 'central nervous system') 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' EquivalentTo 'lipoma' and ('disease has location' some 'rectum') http://purl.obolibrary.org/obo/MONDO_0003885 colorectal lipoma 'colorectal lipoma' SubClassOf 'benign neoplasm of large intestine' 'colorectal lipoma' EquivalentTo 'lipoma' and ('disease has location' some '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' EquivalentTo 'apocrine adenocarcinoma' and ('disease has location' some 'mammalian vulva') 'vulvar apocrine adenocarcinoma' SubClassOf 'vulvar adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0013200 hypertrophic cardiomyopathy 15 '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' http://purl.obolibrary.org/obo/MONDO_0013204 corneal dystrophy, Fuchs endothelial, 4 'corneal dystrophy, Fuchs endothelial, 4' SubClassOf 'Fuchs' endothelial dystrophy' http://purl.obolibrary.org/obo/MONDO_0003897 breast epithelioid hemangioma 'breast epithelioid hemangioma' EquivalentTo 'epithelioid hemangioma' and ('disease has location' some 'breast') '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' http://purl.obolibrary.org/obo/MONDO_0003899 adult 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' EquivalentTo 'capillary hemangioma' and ('disease has location' some 'breast') 'breast capillary hemangioma' SubClassOf 'breast hemangioma' http://purl.obolibrary.org/obo/MONDO_0003891 bladder signet ring cell adenocarcinoma 'bladder signet ring cell adenocarcinoma' EquivalentTo 'signet ring cell carcinoma' and ('disease has location' some 'urinary bladder') 'bladder signet ring cell adenocarcinoma' SubClassOf 'signet ring cell carcinoma' 'bladder signet ring cell adenocarcinoma' SubClassOf 'Bladder 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' http://purl.obolibrary.org/obo/GO_0071830 triglyceride-rich lipoprotein particle clearance 'triglyceride-rich lipoprotein particle clearance' SubClassOf 'multicellular organismal process' http://purl.obolibrary.org/obo/GO_0032274 gonadotropin secretion 'gonadotropin secretion' SubClassOf 'part of' some 'endocrine process' 'gonadotropin secretion' SubClassOf 'hormone secretion' 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' http://purl.obolibrary.org/obo/HP_0100306 Muscle fiber hyaline bodies 'Muscle fiber hyaline bodies' SubClassOf 'Abnormal skeletal muscle morphology' http://purl.obolibrary.org/obo/GO_0022848 acetylcholine-gated monoatomic cation-selective channel activity 'acetylcholine-gated monoatomic cation-selective channel activity' SubClassOf 'signaling receptor activity' http://purl.obolibrary.org/obo/HP_0100324 Scleroderma 'Scleroderma' SubClassOf 'Thickened skin' http://purl.obolibrary.org/obo/GO_0007249 canonical NF-kappaB signal transduction 'canonical NF-kappaB signal transduction' SubClassOf 'signal transduction' http://purl.obolibrary.org/obo/GO_0032217 riboflavin transmembrane transporter activity 'riboflavin transmembrane transporter activity' SubClassOf 'molecular_function' http://purl.obolibrary.org/obo/GO_0007265 Ras protein signal transduction 'Ras protein signal transduction' SubClassOf 'signal transduction' http://purl.obolibrary.org/obo/GO_0046849 bone remodeling 'bone remodeling' SubClassOf 'multicellular organismal process' http://purl.obolibrary.org/obo/UBERON_0004982 mucosa of epiglottis 'mucosa of epiglottis' SubClassOf 'part of' some 'respiratory system' 'mucosa of epiglottis' SubClassOf 'part of' some 'hypopharynx' 'mucosa of epiglottis' SubClassOf 'part of' some 'chordate pharynx' 'mucosa of epiglottis' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/MONDO_0008412 intestinal schistosomiasis 'intestinal schistosomiasis' EquivalentTo 'schistosomiasis' and ('disease has location' some 'intestine') 'intestinal schistosomiasis' SubClassOf 'intestinal helminthiasis' 'intestinal schistosomiasis' SubClassOf 'schistosomiasis' http://purl.obolibrary.org/obo/MONDO_0008422 autosomal dominant sideroblastic anemia 'autosomal dominant sideroblastic anemia' SubClassOf 'autosomal dominant disease' 'autosomal dominant sideroblastic anemia' SubClassOf 'inherited sideroblastic anemia' 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 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0200000 uterine ligament adenosarcoma 'uterine ligament adenosarcoma' SubClassOf 'uterine ligament cancer' 'uterine ligament adenosarcoma' EquivalentTo 'adenosarcoma' and ('disease has location' some 'uterine ligament') 'uterine ligament adenosarcoma' SubClassOf 'cervical adenosarcoma' http://purl.obolibrary.org/obo/GO_0007041 lysosomal transport 'lysosomal transport' SubClassOf 'establishment of localization in cell' 'lysosomal transport' SubClassOf 'cellular localization' 'lysosomal transport' SubClassOf 'transport' http://purl.obolibrary.org/obo/UBERON_0004864 vasculature of retina 'vasculature of retina' SubClassOf 'part of' some 'retina' 'vasculature of retina' SubClassOf 'vasculature of eye' 'vasculature of retina' EquivalentTo 'vasculature' and ('part of' some 'retina') http://purl.obolibrary.org/obo/HP_0100034 Motor tics 'Motor tics' SubClassOf 'Tics' http://purl.obolibrary.org/obo/UBERON_0004823 intrahepatic bile duct epithelium 'intrahepatic bile duct epithelium' SubClassOf 'bile duct epithelium' 'intrahepatic bile duct epithelium' SubClassOf 'part of' some 'intrahepatic bile duct' 'intrahepatic bile duct epithelium' EquivalentTo 'epithelium' and ('part of' some 'intrahepatic bile duct') http://purl.obolibrary.org/obo/UBERON_0004820 bile duct epithelium 'bile duct epithelium' EquivalentTo 'epithelium' and ('part of' some 'bile duct') 'bile duct epithelium' SubClassOf 'part of' some 'biliary system' 'bile duct epithelium' SubClassOf 'part of' some 'duct' 'bile duct epithelium' SubClassOf 'part of' some 'bile duct' 'bile duct epithelium' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/GO_0071625 vocalization behavior 'vocalization behavior' SubClassOf 'behavior' http://purl.obolibrary.org/obo/MONDO_0008303 familial male-limited precocious puberty 'familial male-limited precocious puberty' SubClassOf 'genetic disorder' 'familial male-limited precocious puberty' SubClassOf 'peripheral precocious puberty' http://purl.obolibrary.org/obo/GO_0071696 ectodermal placode development 'ectodermal placode development' SubClassOf 'developmental process' http://purl.obolibrary.org/obo/MONDO_0008382 retinoschisis, autosomal dominant 'retinoschisis, autosomal dominant' SubClassOf 'retinoschisis' 'retinoschisis, autosomal dominant' SubClassOf 'autosomal dominant disease' 'retinoschisis, autosomal dominant' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0008386 Axenfeld-Rieger syndrome type 1 'Axenfeld-Rieger syndrome type 1' SubClassOf 'Axenfeld-Rieger syndrome' http://purl.obolibrary.org/obo/UBERON_0004907 lower digestive tract 'lower digestive tract' SubClassOf 'anatomical structure' 'lower digestive tract' SubClassOf 'part of' some 'alimentary part of gastrointestinal system' 'lower digestive tract' SubClassOf 'part of' some 'digestive tract' http://purl.obolibrary.org/obo/UBERON_0004915 sphincter of hepatopancreatic ampulla 'sphincter of hepatopancreatic ampulla' SubClassOf 'pancreactic component' 'sphincter of hepatopancreatic ampulla' SubClassOf 'part of' some 'hepatopancreatic ampulla' 'sphincter of hepatopancreatic ampulla' SubClassOf 'part of' some 'alimentary part of gastrointestinal system' 'sphincter of hepatopancreatic ampulla' SubClassOf 'part of' some 'digestive system' 'sphincter of hepatopancreatic ampulla' SubClassOf 'part of' some 'anatomical system' 'sphincter of hepatopancreatic ampulla' SubClassOf 'muscle structure' 'sphincter of hepatopancreatic ampulla' SubClassOf 'part of' some 'musculature' http://purl.obolibrary.org/obo/UBERON_0004917 urethral sphincter 'urethral sphincter' SubClassOf 'muscle structure' 'urethral sphincter' SubClassOf 'part of' some 'urethra' 'urethral sphincter' SubClassOf 'part of' some 'musculature' 'urethral sphincter' SubClassOf 'part of' some 'lower urinary tract' 'urethral sphincter' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0004765 skeletal element 'skeletal element' SubClassOf 'skeleton structure' 'skeletal element' SubClassOf 'part of' some 'anatomical system' 'skeletal element' SubClassOf 'part of' some 'skeletal system' http://purl.obolibrary.org/obo/UBERON_0004786 gastrointestinal system mucosa 'gastrointestinal system mucosa' SubClassOf 'part of' some 'alimentary part of gastrointestinal system' 'gastrointestinal system mucosa' SubClassOf 'part of' some 'digestive tract' 'gastrointestinal system mucosa' SubClassOf 'mucosa' 'gastrointestinal system mucosa' EquivalentTo 'mucosa' and ('part of' some 'alimentary part of gastrointestinal system') http://purl.obolibrary.org/obo/MONDO_0008231 Peyronie disease 'Peyronie disease' SubClassOf 'penile neoplasm' 'Peyronie disease' SubClassOf 'hereditary disorder of connective tissue' 'Peyronie disease' EquivalentTo 'fibromatosis' and ('disease has location' some 'penis') 'Peyronie disease' SubClassOf 'Superficial Fibromatosis' http://purl.obolibrary.org/obo/MONDO_0033280 nephrotic syndrome 16 'nephrotic syndrome 16' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/HP_0100255 Metaphyseal dysplasia 'Metaphyseal dysplasia' SubClassOf 'Abnormal long bone morphology' 'Metaphyseal dysplasia' SubClassOf 'Skeletal dysplasia' 'Metaphyseal dysplasia' SubClassOf 'Abnormality of limbs' http://purl.obolibrary.org/obo/HP_0100267 Lip pit 'Lip pit' SubClassOf 'Abnormality of the mouth' 'Lip pit' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/HP_0002224 Woolly hair 'Woolly hair' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/HP_0002227 White eyelashes 'White eyelashes' SubClassOf 'Abnormal eyelash morphology' http://purl.obolibrary.org/obo/HP_0002226 White eyebrow 'White eyebrow' SubClassOf 'Abnormal eyebrow morphology' http://purl.obolibrary.org/obo/HP_0002257 Chronic rhinitis 'Chronic rhinitis' SubClassOf 'Abnormality of the nose' http://purl.obolibrary.org/obo/HP_0002202 Pleural effusion 'Pleural effusion' SubClassOf 'Abnormal lung morphology' 'Pleural effusion' SubClassOf 'Edema' http://purl.obolibrary.org/obo/HP_0002204 Pulmonary embolism 'Pulmonary embolism' SubClassOf 'Abnormality of the vasculature' 'Pulmonary embolism' SubClassOf 'Abnormal cardiovascular system physiology' 'Pulmonary embolism' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/HP_0002209 Sparse scalp hair 'Sparse scalp hair' SubClassOf 'Sparse hair' 'Sparse scalp hair' SubClassOf 'Abnormality of the head' http://purl.obolibrary.org/obo/HP_0002185 Neurofibrillary tangles 'Neurofibrillary tangles' SubClassOf 'Abnormal brain morphology' http://purl.obolibrary.org/obo/MONDO_0008102 sick sinus syndrome 2, autosomal dominant 'sick sinus syndrome 2, autosomal dominant' SubClassOf 'familial sick sinus syndrome' http://purl.obolibrary.org/obo/HP_0002149 Hyperuricemia 'Hyperuricemia' SubClassOf 'Abnormal circulating nitrogen compound concentration' http://purl.obolibrary.org/obo/HP_0002145 Frontotemporal dementia 'Frontotemporal dementia' SubClassOf 'Dementia' http://purl.obolibrary.org/obo/HP_0100774 Hyperostosis 'Hyperostosis' SubClassOf 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/HP_0002156 Homocystinuria 'Homocystinuria' SubClassOf 'Aminoaciduria' http://purl.obolibrary.org/obo/HP_0002150 Hypercalciuria 'Hypercalciuria' SubClassOf 'Abnormality of urine homeostasis' http://purl.obolibrary.org/obo/HP_0002160 Hyperhomocystinemia 'Hyperhomocystinemia' SubClassOf 'Abnormal circulating carboxylic acid concentration' http://purl.obolibrary.org/obo/MONDO_0008174 pachyonychia congenita 2 'pachyonychia congenita 2' SubClassOf 'pachyonychia congenita' http://purl.obolibrary.org/obo/UBERON_0000304 tendon sheath 'tendon sheath' SubClassOf 'part of' some 'tendon' 'tendon sheath' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0000315 subarachnoid space 'subarachnoid space' SubClassOf 'anatomical entity' 'subarachnoid space' SubClassOf 'part of' some 'meningeal cluster' http://purl.obolibrary.org/obo/MONDO_0008197 parietal foramina 1 'parietal foramina 1' SubClassOf 'parietal foramina' http://purl.obolibrary.org/obo/GO_0022414 reproductive process 'reproductive process' SubClassOf 'biological_process' http://purl.obolibrary.org/obo/UBERON_0000159 anal canal 'anal canal' SubClassOf 'anatomical structure' 'anal canal' SubClassOf 'part of' some 'large intestine' 'anal canal' SubClassOf 'part of' some 'anal region' http://purl.obolibrary.org/obo/UBERON_0000167 oral cavity 'oral cavity' SubClassOf 'anatomical entity' 'oral cavity' SubClassOf 'part of' some 'mouth' http://purl.obolibrary.org/obo/UBERON_0000166 oral opening 'oral opening' SubClassOf 'part of' some 'mouth' 'oral opening' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/HP_0002102 Pleuritis 'Pleuritis' SubClassOf 'Abnormal lung morphology' http://purl.obolibrary.org/obo/HP_0002072 Chorea 'Chorea' SubClassOf 'Abnormal central motor function' 'Chorea' SubClassOf 'Abnormality of movement' http://purl.obolibrary.org/obo/HP_0002090 Pneumonia 'Pneumonia' SubClassOf 'Abnormal lung morphology' 'Pneumonia' SubClassOf 'Increased inflammatory response' http://purl.obolibrary.org/obo/HP_0002099 Asthma 'Asthma' SubClassOf 'Abnormality of the immune system' 'Asthma' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/HP_0002098 Respiratory distress 'Respiratory distress' SubClassOf 'Dyspnea' 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' http://purl.obolibrary.org/obo/MONDO_0008021 Cowden syndrome 1 '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' http://purl.obolibrary.org/obo/HP_0002047 Malignant hyperthermia 'Malignant hyperthermia' SubClassOf 'Abnormality of temperature regulation' http://purl.obolibrary.org/obo/UBERON_0000019 camera-type eye 'camera-type eye' SubClassOf 'part of' some 'orbital region' 'camera-type eye' SubClassOf 'eye' http://purl.obolibrary.org/obo/UBERON_0000017 exocrine pancreas 'exocrine pancreas' SubClassOf 'part of' some 'anatomical system' 'exocrine pancreas' SubClassOf 'part of' some 'exocrine system' 'exocrine pancreas' SubClassOf 'gland' 'exocrine pancreas' SubClassOf 'part of' some 'pancreas' 'exocrine pancreas' SubClassOf 'part of' some 'trunk' 'exocrine pancreas' SubClassOf 'part of' some 'digestive system' 'exocrine pancreas' SubClassOf 'pancreactic component' http://purl.obolibrary.org/obo/UBERON_0000021 cutaneous appendage 'cutaneous appendage' SubClassOf 'part of' some 'integumental system' 'cutaneous appendage' SubClassOf 'part of' some 'multicellular organism' 'cutaneous appendage' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0000020 sense organ 'sense organ' SubClassOf 'anatomical structure' 'sense organ' SubClassOf 'part of' some 'anatomical system' 'sense organ' SubClassOf 'part of' some 'sensory system' http://purl.obolibrary.org/obo/HP_0002410 Aqueductal stenosis 'Aqueductal stenosis' SubClassOf 'Abnormal brain morphology' http://purl.obolibrary.org/obo/UBERON_0000043 tendon 'tendon' SubClassOf 'connective tissue' 'tendon' SubClassOf 'part of' some 'musculoskeletal system' http://purl.obolibrary.org/obo/UBERON_0000042 serous membrane 'serous membrane' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/HP_0002486 Myotonia 'Myotonia' SubClassOf 'Abnormal muscle physiology' http://purl.obolibrary.org/obo/UBERON_0000053 macula lutea 'macula lutea' SubClassOf 'part of' some 'retina' 'macula lutea' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0000058 duct 'duct' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0000088 trophoblast 'trophoblast' SubClassOf 'part of' some 'blastocyst' 'trophoblast' SubClassOf 'embryonic structure' http://purl.obolibrary.org/obo/HP_0100526 Neoplasm of the lung 'Neoplasm of the lung' SubClassOf 'Abnormal lung morphology' http://purl.obolibrary.org/obo/HP_0002383 Infectious encephalitis 'Infectious encephalitis' SubClassOf 'Abnormality of the immune system' 'Infectious encephalitis' SubClassOf 'Morphological central nervous system abnormality' http://purl.obolibrary.org/obo/HP_0100502 Decreased circulating vitamin B12 concentration 'Decreased circulating vitamin B12 concentration' SubClassOf 'Abnormality of vitamin metabolism' http://purl.obolibrary.org/obo/HP_0100512 Decreased circulating vitamin D concentration 'Decreased circulating vitamin D concentration' SubClassOf 'Abnormality of vitamin metabolism' http://purl.obolibrary.org/obo/HP_0100584 Endocarditis 'Endocarditis' SubClassOf 'Abnormal heart morphology' 'Endocarditis' SubClassOf 'Increased inflammatory response' http://purl.obolibrary.org/obo/GO_0061702 canonical inflammasome complex 'canonical inflammasome complex' SubClassOf 'cellular_component' 'canonical inflammasome complex' SubClassOf 'part of' some 'cytosol' http://purl.obolibrary.org/obo/GO_0046110 xanthine metabolic process 'xanthine metabolic process' SubClassOf 'purine nucleobase metabolic process' http://purl.obolibrary.org/obo/GO_0046146 tetrahydrobiopterin metabolic process 'tetrahydrobiopterin metabolic process' SubClassOf 'cellular aromatic compound metabolic process' 'tetrahydrobiopterin metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'tetrahydrobiopterin metabolic process' SubClassOf 'organic cyclic compound metabolic process' 'tetrahydrobiopterin metabolic process' SubClassOf 'heterocycle metabolic process' http://purl.obolibrary.org/obo/HP_0002329 Drowsiness 'Drowsiness' SubClassOf 'Reduced consciousness' http://purl.obolibrary.org/obo/HP_0100658 Cellulitis 'Cellulitis' SubClassOf 'Abnormality of connective tissue' http://purl.obolibrary.org/obo/HP_0002633 Vasculitis 'Vasculitis' SubClassOf 'Abnormality of the vasculature' 'Vasculitis' SubClassOf 'Abnormal cardiovascular system morphology' http://purl.obolibrary.org/obo/HP_0002651 Spondyloepimetaphyseal dysplasia 'Spondyloepimetaphyseal dysplasia' SubClassOf 'Skeletal dysplasia' http://purl.obolibrary.org/obo/UBERON_0009097 gravid organism 'gravid organism' SubClassOf 'multicellular organism' http://purl.obolibrary.org/obo/UBERON_0010011 collection of basal ganglia 'collection of basal ganglia' SubClassOf 'anatomical entity' 'collection of basal ganglia' SubClassOf 'part of' some 'brain' 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' EquivalentTo 'leukemia' and ('disease has location' some 'spleen') http://purl.obolibrary.org/obo/MONDO_0004105 childhood epithelioid sarcoma 'childhood epithelioid sarcoma' SubClassOf 'epithelioid sarcoma' 'childhood epithelioid sarcoma' SubClassOf 'childhood cancer' 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 'gastrointestinal lymphoma' 'splenic manifestation of hairy cell leukemia' EquivalentTo 'hairy cell leukemia' and ('disease has location' some 'spleen') 'splenic manifestation of hairy cell leukemia' SubClassOf 'splenic manifestation of leukemia' 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 'duodenal neuroendocrine neoplasm' 'ampulla of vater small cell neuroendocrine carcinoma' EquivalentTo 'neuroendocrine carcinoma' and 'small cell carcinoma' and ('disease has location' some 'hepatopancreatic ampulla') 'ampulla of vater small cell neuroendocrine carcinoma' SubClassOf 'liver neuroendocrine 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' http://purl.obolibrary.org/obo/MONDO_0004111 refractory hematologic cancer 'refractory hematologic cancer' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0004125 rectum leiomyoma 'rectum leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'rectum') 'rectum leiomyoma' SubClassOf 'colorectal leiomyoma' 'rectum leiomyoma' SubClassOf 'benign neoplasm of rectum' 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 'vulvar neuroendocrine carcinoma' 'Bartholin gland small cell carcinoma' EquivalentTo 'small cell carcinoma' and ('disease has location' some 'major vestibular gland') 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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'anal canal') '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' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'anal region') 'anal verrucous carcinoma' SubClassOf 'digestive system infectious disorder' 'anal verrucous carcinoma' SubClassOf 'disease has location' some 'anal region' 'anal verrucous carcinoma' SubClassOf 'Buschke Lowenstein tumor' 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' EquivalentTo 'basaloid squamous cell carcinoma' and ('disease has location' some 'anus') http://purl.obolibrary.org/obo/MONDO_0004148 gallbladder papillary neoplasm with an associated invasive carcinoma 'gallbladder papillary neoplasm with an associated invasive carcinoma' EquivalentTo 'papillary carcinoma' and ('disease has location' some 'gallbladder') '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 'papillary adenocarcinoma' 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' http://purl.obolibrary.org/obo/MONDO_0004156 pancreatic mucinous cystadenocarcinoma 'pancreatic mucinous cystadenocarcinoma' SubClassOf 'mucinous cystadenocarcinoma' 'pancreatic mucinous cystadenocarcinoma' EquivalentTo 'mucinous cystadenocarcinoma' and ('disease has location' some 'pancreas') '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' http://purl.obolibrary.org/obo/MONDO_0004151 spinal meninges cancer 'spinal meninges cancer' EquivalentTo 'cancer' and ('disease has location' some 'meninx of spinal cord') 'spinal meninges cancer' SubClassOf 'disease has location' some 'meninx of spinal cord' 'spinal meninges cancer' SubClassOf 'malignant tumor of meninges' 'spinal meninges cancer' SubClassOf 'spinal cord cancer' http://purl.obolibrary.org/obo/GO_0061626 pharyngeal arch artery morphogenesis 'pharyngeal arch artery morphogenesis' SubClassOf 'part of' some 'pharyngeal system development' 'pharyngeal arch artery morphogenesis' SubClassOf 'developmental process' http://purl.obolibrary.org/obo/MONDO_0004168 cribriform variant testicular seminoma 'cribriform variant testicular seminoma' SubClassOf 'testicular seminoma' http://purl.obolibrary.org/obo/MONDO_0004176 childhood 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'urethra') 'benign urethral neoplasm' SubClassOf 'urethral neoplasm' 'benign urethral neoplasm' SubClassOf 'benign urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0004189 esophageal tuberculosis 'esophageal tuberculosis' EquivalentTo 'tuberculosis' and ('disease has location' some 'esophagus') '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' EquivalentTo 'Spindle Cell Melanoma' and ('disease has location' some 'iris') 'iris spindle cell melanoma' SubClassOf 'spindle cell intraocular melanoma' http://purl.obolibrary.org/obo/MONDO_0004185 ovarian serous cystadenofibroma 'ovarian serous cystadenofibroma' SubClassOf 'Ovarian Serous Adenofibroma' 'ovarian serous cystadenofibroma' SubClassOf 'serous cystadenofibroma' 'ovarian serous cystadenofibroma' EquivalentTo 'serous cystadenofibroma' and ('disease has location' some 'ovary') 'ovarian serous cystadenofibroma' SubClassOf 'cystadenofibroma' http://purl.obolibrary.org/obo/MONDO_0004197 male urethral cancer 'male urethral cancer' EquivalentTo 'cancer' and ('disease has location' some 'male urethra') 'male urethral cancer' SubClassOf 'disease has location' some 'male urethra' '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' EquivalentTo 'keratinizing squamous cell carcinoma' and ('disease has location' some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0004193 pediatric ovarian dysgerminoma 'pediatric ovarian dysgerminoma' SubClassOf 'Ovarian Dysgerminoma' 'pediatric ovarian dysgerminoma' SubClassOf 'childhood gonadal germ cell tumor' 'pediatric ovarian dysgerminoma' SubClassOf 'malignant childhood germ cell neoplasm' '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 'rectal carcinoma' 'rectal sarcomatoid carcinoma' EquivalentTo 'Sarcomatoid Carcinoma' and ('disease has location' some 'rectum') http://purl.obolibrary.org/obo/MONDO_0043797 spinal cord injury 'spinal cord injury' SubClassOf 'spinal injury' 'spinal cord injury' SubClassOf 'spinal cord disease' 'spinal cord injury' EquivalentTo 'injury' and ('disease has location' some 'spinal cord') 'spinal cord injury' SubClassOf 'nervous system injury' 'spinal cord injury' SubClassOf 'vertebral column disorder' http://purl.obolibrary.org/obo/HP_0002503 Spinocerebellar tract degeneration 'Spinocerebellar tract degeneration' SubClassOf 'Morphological central nervous system abnormality' http://purl.obolibrary.org/obo/HP_0002524 Cataplexy 'Cataplexy' SubClassOf 'Abnormal central motor function' 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' http://purl.obolibrary.org/obo/MONDO_0004009 kidney pelvis sarcomatoid transitional cell carcinoma 'kidney pelvis sarcomatoid transitional cell carcinoma' EquivalentTo 'sarcomatoid transitional cell carcinoma' and ('disease has location' some 'renal pelvis') 'kidney pelvis sarcomatoid transitional cell carcinoma' SubClassOf 'transitional cell carcinoma of kidney' 'kidney pelvis sarcomatoid transitional cell carcinoma' SubClassOf 'sarcomatoid transitional cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004004 motor nerve neuritis 'motor nerve neuritis' SubClassOf 'motor peripheral neuropathy' 'motor nerve neuritis' EquivalentTo 'motor peripheral neuropathy' and ('disease has inflammation site' some 'nerve') 'motor nerve neuritis' SubClassOf 'neuritis' http://purl.obolibrary.org/obo/MONDO_0004000 childhood pilocytic astrocytoma 'childhood pilocytic astrocytoma' SubClassOf 'pilocytic astrocytoma' 'childhood pilocytic astrocytoma' SubClassOf 'childhood astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0004015 pineal region teratoma 'pineal region teratoma' SubClassOf 'central nervous system teratoma' 'pineal region teratoma' SubClassOf 'pineal body neoplasm' 'pineal region teratoma' EquivalentTo 'teratoma' and ('disease has location' some 'pineal body') http://purl.obolibrary.org/obo/MONDO_0004010 infiltrating renal pelvis/ureter urothelial carcinoma 'infiltrating renal pelvis/ureter urothelial carcinoma' SubClassOf 'disease has location' some 'renal pelvis/ureter' 'infiltrating renal pelvis/ureter urothelial carcinoma' SubClassOf 'infiltrating urothelial carcinoma' 'infiltrating renal pelvis/ureter urothelial carcinoma' EquivalentTo 'infiltrating urothelial carcinoma' and ('disease has location' some 'renal pelvis/ureter') 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' 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' http://purl.obolibrary.org/obo/MONDO_0004028 small intestinal fibrosarcoma 'small intestinal fibrosarcoma' EquivalentTo 'fibrosarcoma' and ('disease has location' some 'small intestine') 'small intestinal fibrosarcoma' SubClassOf 'small intestinal sarcoma' 'small intestinal fibrosarcoma' SubClassOf 'fibrosarcoma' http://purl.obolibrary.org/obo/MONDO_0004024 spinal cord neuroblastoma 'spinal cord neuroblastoma' SubClassOf 'central nervous system primitive neuroectodermal neoplasm' 'spinal cord neuroblastoma' EquivalentTo 'neuroblastoma' and ('disease has location' some 'spinal cord') 'spinal cord neuroblastoma' SubClassOf 'extracranial neuroblastoma' 'spinal cord neuroblastoma' SubClassOf 'spinal cord cancer' http://purl.obolibrary.org/obo/MONDO_0004034 eye lymphoma 'eye lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'eyeball of camera-type eye') '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' EquivalentTo 'Transitional Cell Carcinoma' and ('disease has location' some 'ureter') 'ureter transitional cell carcinoma' SubClassOf 'renal pelvis/ureter urothelial carcinoma' http://purl.obolibrary.org/obo/MONDO_0004048 immature gastric teratoma 'immature gastric teratoma' SubClassOf 'extragonadal nonseminomatous germ cell tumor' 'immature gastric teratoma' EquivalentTo 'malignant teratoma' and ('disease has location' some 'stomach') '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' EquivalentTo 'urothelial papilloma' and ('disease has location' some 'ureter') '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' EquivalentTo 'inverted papilloma' and ('disease has location' some 'ureter') 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 'brain neoplasm' 'childhood brain meningioma' EquivalentTo 'pediatric meningioma' and ('disease has location' some 'brain') http://purl.obolibrary.org/obo/MONDO_0043653 herpes labialis 'herpes labialis' SubClassOf 'lip disorder' 'herpes labialis' SubClassOf 'Herpes simplex infection' 'herpes labialis' SubClassOf 'digestive system infectious disorder' 'herpes labialis' SubClassOf 'disease arising from reactivation of latent virus' http://purl.obolibrary.org/obo/MONDO_0004040 urinary bladder inverted papilloma 'urinary bladder inverted papilloma' EquivalentTo 'inverted papilloma' and ('disease has location' some 'urinary bladder') 'urinary bladder inverted papilloma' SubClassOf 'inverted urothelial papilloma' 'urinary bladder inverted papilloma' SubClassOf 'bladder 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') 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' EquivalentTo 'Papillary Transitional Cell Carcinoma' and ('disease has location' some 'urinary bladder') 'bladder papillary urothelial carcinoma' SubClassOf 'bladder papillary urothelial neoplasm' 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' EquivalentTo 'mucinous carcinoma' and ('disease has location' some 'gallbladder') http://purl.obolibrary.org/obo/MONDO_0004064 iris melanoma 'iris melanoma' SubClassOf 'Uveal Melanoma' 'iris melanoma' SubClassOf 'iris cancer' 'iris melanoma' EquivalentTo 'melanoma' and ('disease has location' some 'iris') 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 'childhood cancer' 'childhood cerebral astrocytoma' SubClassOf 'cerebral astrocytoma' 'childhood cerebral astrocytoma' EquivalentTo 'childhood astrocytic tumor' and ('disease has location' some 'telencephalon') 'childhood cerebral astrocytoma' SubClassOf 'brain glioma' http://purl.obolibrary.org/obo/MONDO_0004076 tendon sheath lipoma 'tendon sheath lipoma' SubClassOf 'tendon sheath disorder' 'tendon sheath lipoma' SubClassOf 'lipoma' 'tendon sheath lipoma' SubClassOf 'benign synovial neoplasm' 'tendon sheath lipoma' SubClassOf 'bone benign neoplasm' 'tendon sheath lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'tendon sheath') http://purl.obolibrary.org/obo/MONDO_0004075 infiltrating lipoma 'infiltrating lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0004080 glottis squamous cell carcinoma 'glottis squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'glottis') '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 gonadal germ cell tumor' 'childhood immature teratoma of ovary' SubClassOf 'childhood teratoma of the ovary' 'childhood immature teratoma of ovary' SubClassOf 'malignant childhood germ cell neoplasm' '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' EquivalentTo 'clear cell adenocarcinoma' and ('disease has location' some 'extrahepatic bile duct') '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' EquivalentTo 'basaloid squamous cell carcinoma' and ('disease has location' some 'uterine cervix') 'cervical basaloid carcinoma' SubClassOf 'cervical squamous cell carcinoma' 'cervical basaloid carcinoma' SubClassOf 'basaloid squamous cell 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' EquivalentTo 'basaloid squamous cell carcinoma' and ('disease has location' some 'penis') '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' EquivalentTo 'epithelioid cell melanoma' and ('disease has location' some 'ciliary body') http://purl.obolibrary.org/obo/MONDO_0004085 choroid epithelioid cell melanoma 'choroid epithelioid cell melanoma' SubClassOf 'malignant choroid melanoma' 'choroid epithelioid cell melanoma' EquivalentTo 'epithelioid cell melanoma' and ('disease has location' some 'optic choroid') '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' EquivalentTo 'basaloid squamous cell carcinoma' and ('disease has location' some 'zone of skin') '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' EquivalentTo 'basaloid squamous cell carcinoma' and ('disease has location' some 'mammalian vulva') http://purl.obolibrary.org/obo/MONDO_0004092 thymic basaloid carcinoma 'thymic basaloid carcinoma' EquivalentTo 'basaloid squamous cell carcinoma' and ('disease has location' some 'thymus') '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' http://purl.obolibrary.org/obo/UBERON_0000458 endocervix 'endocervix' SubClassOf 'anatomical structure' 'endocervix' SubClassOf 'part of' some 'reproductive system' 'endocervix' SubClassOf 'part of' some 'uterine cervix' http://purl.obolibrary.org/obo/HP_0002812 Coxa vara 'Coxa vara' SubClassOf 'Abnormal skeletal morphology' 'Coxa vara' SubClassOf 'Abnormality of the lower limb' http://purl.obolibrary.org/obo/UBERON_0000460 major vestibular gland 'major vestibular gland' SubClassOf 'part of' some 'integumental system' 'major vestibular gland' SubClassOf 'vestibular gland' 'major vestibular gland' SubClassOf 'part of' some 'exocrine system' 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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'small intestine') http://purl.obolibrary.org/obo/HP_0002835 Aspiration 'Aspiration' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/MONDO_0018504 undifferentiated carcinoma of stomach 'undifferentiated carcinoma of stomach' SubClassOf 'gastric carcinoma' 'undifferentiated carcinoma of stomach' EquivalentTo 'undifferentiated carcinoma' and ('disease has location' some 'stomach') '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 'disease has location' some 'anal canal' 'epithelial tumor of anal canal' EquivalentTo 'epithelial neoplasm' and ('disease has location' some 'anal canal') 'epithelial tumor of anal canal' SubClassOf 'large intestine disorder' 'epithelial tumor of anal canal' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0018523 pancreatic mucinous cystadenoma 'pancreatic mucinous cystadenoma' EquivalentTo 'mucinous cystadenoma' and ('disease has location' some 'pancreas') 'pancreatic mucinous cystadenoma' SubClassOf 'mucin-producing carcinoma' 'pancreatic mucinous cystadenoma' SubClassOf 'pancreatic cystadenoma' 'pancreatic mucinous cystadenoma' SubClassOf 'mucinous cystadenoma' 'pancreatic mucinous cystadenoma' 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 'biliary tract cancer' 'biliary cystadenocarcinoma' EquivalentTo 'cystadenocarcinoma' and ('disease has location' some 'biliary tree') 'biliary cystadenocarcinoma' SubClassOf 'cystadenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0018567 autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation 'autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation' SubClassOf 'hereditary motor and sensory neuropathy, Okinawa type' http://purl.obolibrary.org/obo/MONDO_0018585 pediatric arterial ischemic stroke 'pediatric arterial ischemic stroke' SubClassOf 'arterial disorder' 'pediatric arterial ischemic stroke' SubClassOf 'brain ischemia' 'pediatric arterial ischemic stroke' SubClassOf 'stroke' http://purl.obolibrary.org/obo/MONDO_0043555 infantile diarrhea 'infantile diarrhea' SubClassOf 'dysentery' http://purl.obolibrary.org/obo/GO_0061337 cardiac conduction 'cardiac conduction' SubClassOf 'regulation of heart contraction' http://purl.obolibrary.org/obo/HP_0100963 Hyperesthesia 'Hyperesthesia' SubClassOf 'Somatic sensory dysfunction' http://purl.obolibrary.org/obo/UBERON_0000379 tracheal mucosa 'tracheal mucosa' SubClassOf 'part of' some 'respiratory system' 'tracheal mucosa' SubClassOf 'mucosa' http://purl.obolibrary.org/obo/HP_0002748 Rickets 'Rickets' SubClassOf 'Reduced bone mineral density' http://purl.obolibrary.org/obo/UBERON_0000389 lens cortex 'lens cortex' SubClassOf 'anatomical structure' 'lens cortex' SubClassOf 'part of' some 'multicellular organism' 'lens cortex' SubClassOf 'part of' some 'lens of camera-type eye' http://purl.obolibrary.org/obo/UBERON_0000391 leptomeninx 'leptomeninx' SubClassOf 'meninx' http://purl.obolibrary.org/obo/UBERON_0000390 lens nucleus 'lens nucleus' SubClassOf 'part of' some 'lens of camera-type eye' 'lens nucleus' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0000348 ophthalmic nerve 'ophthalmic nerve' SubClassOf 'nerve' 'ophthalmic nerve' SubClassOf 'part of' some 'trigeminal nerve' 'ophthalmic nerve' SubClassOf 'part of' some 'head' http://purl.obolibrary.org/obo/UBERON_0000341 throat 'throat' SubClassOf 'part of' some 'neck' 'throat' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/HP_0002717 Adrenal overactivity 'Adrenal overactivity' SubClassOf 'Abnormality of the adrenal glands' http://purl.obolibrary.org/obo/HP_0002725 Systemic lupus erythematosus 'Systemic lupus erythematosus' SubClassOf 'Autoimmunity' http://purl.obolibrary.org/obo/HP_0002789 Tachypnea 'Tachypnea' SubClassOf 'Abnormal pattern of respiration' http://purl.obolibrary.org/obo/HP_0002797 Osteolysis 'Osteolysis' SubClassOf 'Abnormal bone structure' 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' EquivalentTo 'undifferentiated carcinoma' and ('disease has location' some 'esophagus') http://purl.obolibrary.org/obo/GO_0036374 glutathione hydrolase activity 'glutathione hydrolase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0043458 radiation injury 'radiation injury' SubClassOf 'injury' http://purl.obolibrary.org/obo/MONDO_0043479 adenoviridae infectious disease 'adenoviridae infectious disease' SubClassOf 'primary viral infectious disease' http://purl.obolibrary.org/obo/UBERON_0000440 trabecula 'trabecula' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/UBERON_0000403 scalp 'scalp' SubClassOf 'part of' some 'head' 'scalp' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/HP_0012418 Hypoxemia 'Hypoxemia' SubClassOf 'Abnormality of the respiratory system' http://purl.obolibrary.org/obo/MONDO_0008944 Joubert syndrome 1 'Joubert syndrome 1' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0008955 cerebrooculofacioskeletal syndrome 1 'cerebrooculofacioskeletal syndrome 1' SubClassOf 'COFS syndrome' http://purl.obolibrary.org/obo/GO_0120054 intestinal motility 'intestinal motility' SubClassOf 'system process' 'intestinal motility' SubClassOf 'part of' some 'digestion' http://purl.obolibrary.org/obo/MONDO_0033925 pediatric-onset Graves disease 'pediatric-onset Graves disease' SubClassOf 'Graves disease' http://purl.obolibrary.org/obo/MONDO_0018308 liver mesenchymal hamartoma 'liver mesenchymal hamartoma' EquivalentTo 'mesenchymal hamartoma' and ('disease has location' some 'liver') 'liver mesenchymal hamartoma' SubClassOf 'mesenchymal hamartoma' 'liver mesenchymal hamartoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/CL_0011012 neural crest cell 'neural crest cell' SubClassOf 'embryonic cell (metazoa)' 'neural crest cell' SubClassOf 'multi fate stem cell' http://purl.obolibrary.org/obo/MONDO_0018325 juvenile myasthenia gravis 'juvenile myasthenia gravis' SubClassOf 'Myasthenia gravis' http://purl.obolibrary.org/obo/MONDO_0018369 immature ovarian teratoma 'immature ovarian teratoma' SubClassOf 'malignant teratoma of testis' 'immature ovarian teratoma' SubClassOf 'ovarian biphasic or triphasic teratoma' 'immature ovarian teratoma' SubClassOf 'malignant non-dysgerminomatous germ cell tumor of ovary' 'immature ovarian teratoma' SubClassOf 'malignant teratoma' 'immature ovarian teratoma' SubClassOf 'ovarian epithelial tumor' 'immature ovarian teratoma' EquivalentTo 'malignant teratoma' and ('disease has location' some 'ovary') http://purl.obolibrary.org/obo/MONDO_0043373 sudden sensorineural hearing loss 'sudden sensorineural hearing loss' SubClassOf 'sudden hearing loss disorder' 'sudden sensorineural hearing loss' SubClassOf 'sensorineural hearing loss' http://purl.obolibrary.org/obo/HP_0002983 Micromelia 'Micromelia' SubClassOf 'Limb undergrowth' http://purl.obolibrary.org/obo/HP_0012323 Sleep myoclonus 'Sleep myoclonus' SubClassOf 'Myoclonus' http://purl.obolibrary.org/obo/MONDO_0008817 arterial calcification, generalized, of infancy, 1 'arterial calcification, generalized, of infancy, 1' SubClassOf 'arterial calcification of infancy' http://purl.obolibrary.org/obo/HP_0002960 Autoimmunity 'Autoimmunity' SubClassOf 'Abnormality of the immune system' http://purl.obolibrary.org/obo/MONDO_0008833 renal-hepatic-pancreatic dysplasia 1 'renal-hepatic-pancreatic dysplasia 1' SubClassOf 'renal-hepatic-pancreatic dysplasia' http://purl.obolibrary.org/obo/UBERON_0010391 parametrium 'parametrium' SubClassOf 'part of' some 'reproductive system' 'parametrium' SubClassOf 'serous membrane' 'parametrium' SubClassOf 'part of' some 'broad ligament of uterus' 'parametrium' SubClassOf 'part of' some 'uterus' http://purl.obolibrary.org/obo/HP_0012393 Allergy 'Allergy' SubClassOf 'Abnormality of the immune system' http://purl.obolibrary.org/obo/MONDO_0008866 bifid nose, autosomal recessive 'bifid nose, autosomal recessive' SubClassOf 'hereditary otorhinolaryngologic disease' 'bifid nose, autosomal recessive' SubClassOf 'bifid nose' 'bifid nose, autosomal recessive' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0033821 fungal keratitis 'fungal keratitis' SubClassOf 'corneal infection' 'fungal keratitis' SubClassOf 'fungal infection of eye' http://purl.obolibrary.org/obo/MONDO_0008871 microcephalic osteodysplastic primordial dwarfism type I '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 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0033838 radiation-induced plexopathy 'radiation-induced plexopathy' SubClassOf 'radiation-induced disorder' 'radiation-induced plexopathy' SubClassOf 'nerve plexus disease' 'radiation-induced plexopathy' SubClassOf 'acquired peripheral neuropathy' http://purl.obolibrary.org/obo/UBERON_0010402 epidermis suprabasal layer 'epidermis suprabasal layer' SubClassOf 'part of' some 'integumental system' 'epidermis suprabasal layer' SubClassOf 'part of' some 'skin epidermis' 'epidermis suprabasal layer' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/MONDO_0043277 mosaic trisomy 6 'mosaic trisomy 6' SubClassOf 'chromosome 6 disorder' 'mosaic trisomy 6' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/HP_0002912 Methylmalonic acidemia 'Methylmalonic acidemia' SubClassOf 'Abnormality of vitamin metabolism' 'Methylmalonic acidemia' SubClassOf 'Abnormal circulating carboxylic acid concentration' http://purl.obolibrary.org/obo/CHEBI_33780 beryllium molecular entity 'beryllium molecular entity' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_33748 nickel molecular entity 'nickel molecular entity' SubClassOf 'chemical entity' http://purl.obolibrary.org/obo/CHEBI_18405 pyridoxal 5'-phosphate 'pyridoxal 5'-phosphate' SubClassOf 'phosphate' 'pyridoxal 5'-phosphate' SubClassOf 'organic heterocyclic compound' http://purl.obolibrary.org/obo/MONDO_0008719 acrorenal syndrome, autosomal recessive 'acrorenal syndrome, autosomal recessive' SubClassOf 'autosomal recessive disease' 'acrorenal syndrome, autosomal recessive' SubClassOf 'acrorenal syndrome' http://purl.obolibrary.org/obo/MONDO_0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 'Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis' SubClassOf 'Antley-Bixler syndrome' 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' 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' http://purl.obolibrary.org/obo/UBERON_0000941 cranial nerve II 'cranial nerve II' SubClassOf 'part of' some 'visual system' 'cranial nerve II' SubClassOf 'cranial neuron projection bundle' 'cranial nerve II' SubClassOf 'part of' some 'central nervous system' http://purl.obolibrary.org/obo/UBERON_0000946 cardiac valve 'cardiac valve' SubClassOf 'part of' some 'heart' 'cardiac valve' SubClassOf 'heart component' 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' http://purl.obolibrary.org/obo/MONDO_0043137 isolated microcephaly 'isolated microcephaly' SubClassOf 'microcephaly' 'isolated microcephaly' SubClassOf 'disease has location' some 'head' http://purl.obolibrary.org/obo/UBERON_0010366 conjunctival vasculature 'conjunctival vasculature' SubClassOf 'vasculature of eye' 'conjunctival vasculature' SubClassOf 'part of' some 'conjunctiva' 'conjunctival vasculature' EquivalentTo 'vasculature' and ('part of' some 'conjunctiva') http://purl.obolibrary.org/obo/UBERON_0010133 neuroendocrine gland 'neuroendocrine gland' SubClassOf 'endocrine gland' http://purl.obolibrary.org/obo/HP_0012531 Pain 'Pain' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/MONDO_0008603 trigonocephaly 1 'trigonocephaly 1' SubClassOf 'isolated trigonocephaly' http://purl.obolibrary.org/obo/MONDO_0008647 hypertrophic cardiomyopathy 1 'hypertrophic cardiomyopathy 1' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008640 vasculitis, lymphocytic, nodular 'vasculitis, lymphocytic, nodular' SubClassOf 'disease has basis in dysfunction of' some 'lymphocyte' 'vasculitis, lymphocytic, nodular' SubClassOf 'vasculitis' 'vasculitis, lymphocytic, nodular' SubClassOf 'hereditary skin disorder' 'vasculitis, lymphocytic, nodular' EquivalentTo 'vasculitis' and ('disease has basis in dysfunction of' some 'lymphocyte') and ('disease has location' some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0008671 Waardenburg syndrome type 2A 'Waardenburg syndrome type 2A' SubClassOf 'Waardenburg syndrome type 2' http://purl.obolibrary.org/obo/GO_0051458 corticotropin secretion 'corticotropin secretion' SubClassOf 'hormone secretion' 'corticotropin secretion' SubClassOf 'part of' some 'endocrine process' http://purl.obolibrary.org/obo/MONDO_0043004 Weil's disease 'Weil's disease' SubClassOf 'leptospirosis' 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' 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' 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' http://purl.obolibrary.org/obo/MONDO_0014383 myopathy, tubular aggregate, 2 'myopathy, tubular aggregate, 2' SubClassOf 'tubular aggregate myopathy' http://purl.obolibrary.org/obo/GO_0051321 meiotic cell cycle 'meiotic cell cycle' SubClassOf 'cell cycle' 'meiotic cell cycle' SubClassOf 'reproductive process' http://purl.obolibrary.org/obo/HP_0012828 Severe 'Severe' SubClassOf 'clinical modifier' http://purl.obolibrary.org/obo/MONDO_0014406 pancreatic agenesis 2 'pancreatic agenesis 2' SubClassOf 'pancreatic agenesis' http://purl.obolibrary.org/obo/MONDO_0014422 vesicoureteral reflux 8 'vesicoureteral reflux 8' SubClassOf 'familial vesicoureteral reflux' http://purl.obolibrary.org/obo/MONDO_0014439 Bardet-Biedl syndrome 11 'Bardet-Biedl syndrome 11' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 11' SubClassOf 'qualitative or quantitative defects of TRIM32' 'Bardet-Biedl syndrome 11' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0004882 angioid streaks of choroid 'angioid streaks of choroid' SubClassOf 'inherited neurodegenerative disorder' 'angioid streaks of choroid' EquivalentTo 'angioid streaks' and ('disease has location' some 'optic choroid') 'angioid streaks of choroid' SubClassOf 'angioid streaks' 'angioid streaks of choroid' SubClassOf 'choroidal sclerosis' http://purl.obolibrary.org/obo/MONDO_0014242 van Maldergem syndrome 2 'van Maldergem syndrome 2' SubClassOf 'van Maldergem syndrome' http://purl.obolibrary.org/obo/MONDO_0014265 Alzheimer disease 18 'Alzheimer disease 18' SubClassOf 'Alzheimer disease' 'Alzheimer disease 18' SubClassOf 'hereditary dementia' 'Alzheimer disease 18' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/GO_0016937 short-chain fatty acyl-CoA dehydrogenase activity 'short-chain fatty acyl-CoA dehydrogenase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0014295 hereditary spastic paraplegia 57 'hereditary spastic paraplegia 57' SubClassOf 'complex hereditary spastic paraplegia' http://purl.obolibrary.org/obo/GO_0002376 immune system process 'immune system process' SubClassOf 'biological_process' 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 'inflammatory disease' 'chronic inflammation of lacrimal passage' SubClassOf 'disease has inflammation site' some 'lacrimal drainage system' http://purl.obolibrary.org/obo/MONDO_0004924 chronic canaliculitis 'chronic canaliculitis' SubClassOf 'eye infectious disorder' 'chronic canaliculitis' SubClassOf 'actinomycosis' 'chronic canaliculitis' SubClassOf 'chronic inflammation of lacrimal passage' http://purl.obolibrary.org/obo/MONDO_0004934 periostitis 'periostitis' SubClassOf 'bone disease' 'periostitis' SubClassOf 'disease has inflammation site' some 'periosteum' 'periostitis' SubClassOf 'inflammatory disease' 'periostitis' SubClassOf 'connective tissue disease' 'periostitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'periosteum') http://purl.obolibrary.org/obo/MONDO_0004774 gonococcal iridocyclitis 'gonococcal iridocyclitis' SubClassOf 'infectious anterior uveitis' 'gonococcal iridocyclitis' SubClassOf 'gonococcal endophthalmia' http://purl.obolibrary.org/obo/MONDO_0004773 iridocyclitis 'iridocyclitis' SubClassOf 'anterior uveitis' 'iridocyclitis' SubClassOf 'disease has inflammation site' some 'ciliary body' 'iridocyclitis' SubClassOf 'ciliary body disorder' 'iridocyclitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'iris') and ('disease has inflammation site' some 'ciliary body') 'iridocyclitis' SubClassOf 'iritis' http://purl.obolibrary.org/obo/MONDO_0004788 cervix squamous papilloma 'cervix squamous papilloma' EquivalentTo 'squamous papilloma' and ('disease has location' some 'uterine cervix') 'cervix squamous papilloma' SubClassOf 'cervical benign neoplasm' 'cervix squamous papilloma' SubClassOf 'squamous papilloma' http://purl.obolibrary.org/obo/MONDO_0004786 chronic cholangitis 'chronic cholangitis' SubClassOf 'cholangitis' http://purl.obolibrary.org/obo/MONDO_0014108 Fanconi anemia complementation group Q 'Fanconi anemia complementation group Q' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0014126 Perrault syndrome 4 'Perrault syndrome 4' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0014125 symphalangism, proximal, 1B 'symphalangism, proximal, 1B' SubClassOf 'proximal symphalangism' http://purl.obolibrary.org/obo/MONDO_0014122 myofibromatosis, infantile, 2 'myofibromatosis, infantile, 2' SubClassOf 'infantile myofibromatosis' 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' http://purl.obolibrary.org/obo/MONDO_0014145 Leber congenital amaurosis 17 'Leber congenital amaurosis 17' SubClassOf 'Leber congenital amaurosis' http://purl.obolibrary.org/obo/MONDO_0014169 dyschromatosis universalis hereditaria 3 'dyschromatosis universalis hereditaria 3' SubClassOf 'dyschromatosis universalis hereditaria' http://purl.obolibrary.org/obo/MONDO_0014163 left ventricular noncompaction 10 'left ventricular noncompaction 10' SubClassOf 'left ventricular noncompaction' 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' http://purl.obolibrary.org/obo/MONDO_0004806 chronic eosinophilic pneumonia 'chronic eosinophilic pneumonia' SubClassOf 'eosinophilic pneumonia' http://purl.obolibrary.org/obo/MONDO_0004810 acute ethmoiditis 'acute ethmoiditis' SubClassOf 'acute disease' 'acute ethmoiditis' SubClassOf 'ethmoid sinusitis' 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' http://purl.obolibrary.org/obo/MONDO_0004826 urethral calculus 'urethral calculus' SubClassOf 'lower urinary tract calculus' 'urethral calculus' SubClassOf 'urethral disease' 'urethral calculus' EquivalentTo 'urolithiasis' and ('disease has location' some 'urethra') http://purl.obolibrary.org/obo/MONDO_0004827 esophagus squamous cell papilloma 'esophagus squamous cell papilloma' SubClassOf 'squamous papilloma' 'esophagus squamous cell papilloma' EquivalentTo 'squamous papilloma' and ('disease has location' some 'esophagus') 'esophagus squamous cell papilloma' SubClassOf 'benign neoplasm of esophagus' http://purl.obolibrary.org/obo/MONDO_0004832 esophagus leiomyoma 'esophagus leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'esophagus') 'esophagus leiomyoma' SubClassOf 'leiomyoma' 'esophagus leiomyoma' SubClassOf 'benign neoplasm of esophagus' http://purl.obolibrary.org/obo/MONDO_0004844 oral mucosa leukoplakia 'oral mucosa leukoplakia' EquivalentTo 'leukoplakia' and ('disease has location' some 'mouth mucosa') 'oral mucosa leukoplakia' SubClassOf 'mouth mucosa disorder' 'oral mucosa leukoplakia' SubClassOf 'leukoplakia' http://purl.obolibrary.org/obo/MONDO_0004853 gonococcal endophthalmia 'gonococcal endophthalmia' SubClassOf 'endophthalmitis' 'gonococcal endophthalmia' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/MONDO_0004852 gonococcal keratitis 'gonococcal keratitis' SubClassOf 'skin infection' 'gonococcal keratitis' SubClassOf 'corneal infection' 'gonococcal keratitis' SubClassOf 'skin disease caused by bacterial infection' 'gonococcal keratitis' SubClassOf 'gonococcal endophthalmia' http://purl.obolibrary.org/obo/MONDO_0004659 eye carcinoma in situ 'eye carcinoma in situ' SubClassOf 'eye carcinoma' 'eye carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'eyeball of camera-type eye') 'eye carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004650 malignant carotid body paraganglioma 'malignant carotid body paraganglioma' SubClassOf 'peripheral nervous system cancer' 'malignant carotid body paraganglioma' SubClassOf 'carotid body paraganglioma' 'malignant carotid body paraganglioma' SubClassOf 'vascular cancer' 'malignant carotid body paraganglioma' SubClassOf 'central nervous system cancer' '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 'major salivary gland cancer' 'sublingual gland cancer' EquivalentTo 'cancer' and ('disease has location' some 'sublingual gland') http://purl.obolibrary.org/obo/MONDO_0004660 lung carcinoma in situ 'lung carcinoma in situ' SubClassOf 'lung carcinoma' 'lung carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'lung') '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' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'trachea') 'trachea carcinoma in situ' SubClassOf 'squamous carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0004679 leukoplakia of vagina 'leukoplakia of vagina' EquivalentTo 'leukoplakia' and ('disease has location' some 'vagina') 'leukoplakia of vagina' SubClassOf 'leukoplakia' 'leukoplakia of vagina' SubClassOf 'vaginal 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' http://purl.obolibrary.org/obo/MONDO_0004696 larynx carcinoma in situ 'larynx carcinoma in situ' SubClassOf 'in situ carcinoma' 'larynx carcinoma in situ' SubClassOf 'laryngeal carcinoma' 'larynx carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'larynx') 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 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0014048 Cowden syndrome 6 'Cowden syndrome 6' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0014047 Cowden syndrome 5 'Cowden syndrome 5' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0014045 Cowden syndrome 3 'Cowden syndrome 3' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0014056 melanoma, cutaneous malignant, susceptibility to, 9 'melanoma, cutaneous malignant, susceptibility to, 9' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 9' SubClassOf 'glioma susceptibility' http://purl.obolibrary.org/obo/GO_1903510 mucopolysaccharide metabolic process 'mucopolysaccharide metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'mucopolysaccharide metabolic process' SubClassOf 'carbohydrate derivative metabolic process' 'mucopolysaccharide metabolic process' SubClassOf 'macromolecule metabolic process' http://purl.obolibrary.org/obo/MONDO_0014083 agammaglobulinemia 7, autosomal recessive 'agammaglobulinemia 7, autosomal recessive' SubClassOf 'autosomal agammaglobulinemia' 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' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'urinary bladder') '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' EquivalentTo 'leukoplakia' and ('disease has location' some 'uterine cervix') 'uterine cervix leukoplakia' SubClassOf 'leukoplakia' http://purl.obolibrary.org/obo/MONDO_0004708 esophagus carcinoma in situ 'esophagus carcinoma in situ' SubClassOf 'in situ carcinoma' 'esophagus carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'esophagus') 'esophagus carcinoma in situ' SubClassOf 'esophageal carcinoma' http://purl.obolibrary.org/obo/MONDO_0004707 anal canal carcinoma in situ 'anal canal carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'anal canal') 'anal canal carcinoma in situ' SubClassOf 'anal canal carcinoma' 'anal canal carcinoma in situ' SubClassOf 'rectum carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0004712 herpes simplex dermatitis 'herpes simplex dermatitis' SubClassOf 'skin infection' 'herpes simplex dermatitis' SubClassOf 'Herpes simplex infection' http://purl.obolibrary.org/obo/MONDO_0004716 stomach carcinoma in situ 'stomach carcinoma in situ' SubClassOf 'gastric carcinoma' 'stomach carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'stomach') 'stomach carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004715 liver carcinoma in situ 'liver carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'liver') 'liver carcinoma in situ' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'liver carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004723 liver leiomyoma 'liver leiomyoma' SubClassOf 'benign endocrine neoplasm' 'liver leiomyoma' SubClassOf 'hepatobiliary benign neoplasm' 'liver leiomyoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'liver leiomyoma' SubClassOf 'leiomyoma' 'liver leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'liver') http://purl.obolibrary.org/obo/UBERON_0008338 plantar part of pes 'plantar part of pes' SubClassOf 'part of' some 'multicellular organism' 'plantar part of pes' SubClassOf 'anatomical structure' 'plantar part of pes' SubClassOf 'part of' some 'hindlimb' 'plantar part of pes' SubClassOf 'part of' some 'pes' 'plantar part of pes' SubClassOf 'part of' some 'appendage' 'plantar part of pes' SubClassOf 'part of' some 'limb' http://purl.obolibrary.org/obo/MONDO_0004726 liver inflammatory myofibroblastic tumor 'liver inflammatory myofibroblastic tumor' SubClassOf 'liver and intrahepatic bile duct neoplasm' '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_0004732 kidney carcinoma in situ 'kidney carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'kidney') 'kidney carcinoma in situ' SubClassOf 'renal carcinoma' 'kidney carcinoma in situ' SubClassOf 'in situ carcinoma' http://purl.obolibrary.org/obo/MONDO_0004749 myocardium cancer 'myocardium cancer' SubClassOf 'neoplasm of myocardium' 'myocardium cancer' SubClassOf 'heart cancer' 'myocardium cancer' EquivalentTo 'cancer' and ('disease has location' some 'myocardium') http://purl.obolibrary.org/obo/MONDO_0004757 chronic ethmoidal sinusitis 'chronic ethmoidal sinusitis' SubClassOf 'ethmoid sinusitis' 'chronic ethmoidal sinusitis' SubClassOf 'chronic rhinosinusitis' http://purl.obolibrary.org/obo/MONDO_0004521 adult epithelioid sarcoma 'adult epithelioid sarcoma' SubClassOf 'epithelioid sarcoma' 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 'childhood gonadal germ cell tumor' 'childhood choriocarcinoma of the ovary' SubClassOf 'malignant childhood germ cell neoplasm' 'childhood choriocarcinoma of the ovary' SubClassOf 'pediatric ovarian germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0004534 microglandular adenosis of breast 'microglandular adenosis of breast' SubClassOf 'breast adenosis' http://purl.obolibrary.org/obo/MONDO_0004539 aortic malignant tumor 'aortic malignant tumor' SubClassOf 'aortic disease' 'aortic malignant tumor' SubClassOf 'great vessel cancer' 'aortic malignant tumor' EquivalentTo 'cancer' and ('disease has location' some 'aorta') http://purl.obolibrary.org/obo/MONDO_0004548 adult type 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' http://purl.obolibrary.org/obo/MONDO_0004554 childhood kidney angiomyolipoma 'childhood kidney angiomyolipoma' SubClassOf 'kidney angiomyolipoma' 'childhood kidney angiomyolipoma' SubClassOf 'childhood kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0004555 kidney angiomyolipoma 'kidney angiomyolipoma' EquivalentTo 'angiomyolipoma' and ('disease has location' some 'kidney') 'kidney angiomyolipoma' SubClassOf 'kidney benign neoplasm' 'kidney angiomyolipoma' SubClassOf 'benign PEComa' 'kidney angiomyolipoma' SubClassOf 'angiomyolipoma' 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' EquivalentTo 'melanoma' and ('disease has location' some 'cornea') http://purl.obolibrary.org/obo/MONDO_0004561 retinal melanoma 'retinal melanoma' EquivalentTo 'melanoma' and ('disease has location' some 'retina') 'retinal melanoma' SubClassOf 'Ocular Melanoma' 'retinal melanoma' SubClassOf 'retinal cancer' http://purl.obolibrary.org/obo/MONDO_0004577 corneal ulcer 'corneal ulcer' SubClassOf 'keratitis' 'corneal ulcer' EquivalentTo 'ulcer disease' and ('disease has location' some 'cornea') 'corneal ulcer' SubClassOf 'ulcer disease' http://purl.obolibrary.org/obo/MONDO_0004583 transient retinal arterial occlusion 'transient retinal arterial occlusion' SubClassOf 'retinal artery occlusion' http://purl.obolibrary.org/obo/MONDO_0004598 acute cor pulmonale 'acute cor pulmonale' SubClassOf 'acute disease' 'acute cor pulmonale' SubClassOf 'cor pulmonale' http://purl.obolibrary.org/obo/MONDO_0004614 chronic monocytic leukemia 'chronic monocytic leukemia' SubClassOf 'chronic leukemia' 'chronic monocytic leukemia' SubClassOf 'monocytic leukemia' http://purl.obolibrary.org/obo/MONDO_0004616 herpetic whitlow 'herpetic whitlow' SubClassOf 'Herpes simplex infection' 'herpetic whitlow' SubClassOf 'nail infection' 'herpetic whitlow' SubClassOf 'paronychia' 'herpetic whitlow' SubClassOf 'skin disorder caused by infection' http://purl.obolibrary.org/obo/MONDO_0004622 chronic intestinal vascular insufficiency 'chronic intestinal vascular insufficiency' SubClassOf 'intestinal disease' 'chronic intestinal vascular insufficiency' SubClassOf 'vascular insufficiency disorder' http://purl.obolibrary.org/obo/MONDO_0004628 gastroduodenitis 'gastroduodenitis' SubClassOf 'gastric ulcer' 'gastroduodenitis' EquivalentTo 'peptic ulcer disease' and ('disease has inflammation site' some 'stomach') and ('disease has inflammation site' some 'duodenum') 'gastroduodenitis' SubClassOf 'duodenitis' 'gastroduodenitis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0004636 lip carcinoma in situ 'lip carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'lip') 'lip carcinoma in situ' SubClassOf 'carcinoma of lip' 'lip carcinoma in situ' SubClassOf 'oral cavity carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0004631 tongue cancer 'tongue cancer' SubClassOf 'sensory system cancer' 'tongue cancer' SubClassOf 'tongue neoplasm' 'tongue cancer' SubClassOf 'oral cavity cancer' 'tongue cancer' EquivalentTo 'cancer' and ('disease has location' some 'tongue') 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' 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' http://purl.obolibrary.org/obo/MONDO_0004401 testis refractory cancer 'testis refractory cancer' SubClassOf 'refractory malignant neoplasm' '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' EquivalentTo 'gastrin-producing neuroendocrine tumor' and ('disease has location' some 'duodenum') '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' EquivalentTo 'sarcomatoid squamous cell carcinoma' and ('disease has location' some 'penis') 'sarcomatoid penile squamous cell carcinoma' SubClassOf 'squamous cell carcinoma of penis' 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 'malignant central nervous system mesenchymal, non-meningothelial neoplasm' 'central nervous system extraskeletal osteosarcoma' EquivalentTo 'osteosarcoma' and ('disease has location' some 'central nervous system') http://purl.obolibrary.org/obo/MONDO_0004429 skin meningioma 'skin meningioma' SubClassOf 'skin cancer' 'skin meningioma' SubClassOf 'malignant tumor of meninges' 'skin meningioma' EquivalentTo 'meningioma' and ('disease has location' some 'zone of skin') 'skin meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0004436 ovarian myxoid liposarcoma 'ovarian myxoid liposarcoma' SubClassOf 'myxoid liposarcoma' 'ovarian myxoid liposarcoma' SubClassOf 'familial ovarian cancer' 'ovarian myxoid liposarcoma' SubClassOf 'liposarcoma of the ovary' 'ovarian myxoid liposarcoma' EquivalentTo 'myxoid liposarcoma' and ('disease has location' some 'ovary') http://purl.obolibrary.org/obo/MONDO_0004433 papillary carcinoma of the penis 'papillary carcinoma of the penis' EquivalentTo 'papillary carcinoma' and ('disease has location' some 'penis') '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_0004440 pineal region meningioma 'pineal region meningioma' SubClassOf 'pineal body neoplasm' 'pineal region meningioma' EquivalentTo 'meningioma' and ('disease has location' some 'pineal body') 'pineal region meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0004441 childhood ovarian embryonal carcinoma 'childhood ovarian embryonal carcinoma' SubClassOf 'pediatric ovarian germ cell tumor' 'childhood ovarian embryonal carcinoma' SubClassOf 'Ovarian Embryonal Carcinoma' 'childhood ovarian embryonal carcinoma' SubClassOf 'childhood gonadal germ cell tumor' 'childhood ovarian embryonal carcinoma' SubClassOf 'malignant childhood germ cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0004459 bladder hepatoid adenocarcinoma 'bladder hepatoid adenocarcinoma' EquivalentTo 'Hepatoid Adenocarcinoma' and ('disease has location' some 'urinary bladder') 'bladder hepatoid adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder hepatoid adenocarcinoma' SubClassOf 'Hepatoid Adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004457 maxillary sinus Schneiderian papilloma 'maxillary sinus Schneiderian papilloma' EquivalentTo 'Paranasal Sinus Schneiderian Papilloma' and ('disease has location' some 'maxillary sinus') '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' http://purl.obolibrary.org/obo/MONDO_0004452 childhood central nervous system germinoma 'childhood central nervous system germinoma' SubClassOf 'childhood central nervous system germ cell tumor' 'childhood central nervous system germinoma' SubClassOf 'central nervous system germinoma' 'childhood central nervous system germinoma' SubClassOf 'malignant childhood germ cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0004468 anal canal Paget disease 'anal canal Paget disease' EquivalentTo 'Paget disease' and ('disease has location' some 'anal canal') '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' EquivalentTo 'cystadenoma' and ('disease has location' some 'extrahepatic bile duct') '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' EquivalentTo 'tubulovillous adenoma' and ('disease has location' some 'vagina') http://purl.obolibrary.org/obo/MONDO_0004477 adrenal gland ganglioneuroblastoma 'adrenal gland ganglioneuroblastoma' SubClassOf 'peripheral nervous system cancer' 'adrenal gland ganglioneuroblastoma' EquivalentTo 'ganglioneuroblastoma' and ('disease has location' some 'adrenal gland') 'adrenal gland ganglioneuroblastoma' SubClassOf 'Adrenal Gland Neuroblastoma' 'adrenal gland ganglioneuroblastoma' SubClassOf 'peripheral ganglioneuroblastoma' http://purl.obolibrary.org/obo/MONDO_0004474 gallbladder lymphoma 'gallbladder lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'gallbladder') 'gallbladder lymphoma' SubClassOf 'gastrointestinal lymphoma' 'gallbladder lymphoma' SubClassOf 'liver lymphoma' 'gallbladder lymphoma' SubClassOf 'gallbladder cancer' http://purl.obolibrary.org/obo/MONDO_0004489 fallopian tube gestational choriocarcinoma 'fallopian tube gestational choriocarcinoma' SubClassOf 'fallopian tube germ cell tumor' 'fallopian tube gestational choriocarcinoma' SubClassOf 'gestational choriocarcinoma' 'fallopian tube gestational choriocarcinoma' SubClassOf 'Fallopian Tube Carcinoma' 'fallopian tube gestational choriocarcinoma' EquivalentTo 'gestational choriocarcinoma' and ('disease has location' some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0004484 gallbladder melanoma 'gallbladder melanoma' SubClassOf 'gallbladder cancer' 'gallbladder melanoma' EquivalentTo 'melanoma' and ('disease has location' some 'gallbladder') 'gallbladder melanoma' SubClassOf 'digestive system melanoma' http://purl.obolibrary.org/obo/MONDO_0004491 uterine corpus choriocarcinoma 'uterine corpus choriocarcinoma' SubClassOf 'malignant germ cell tumor of corpus uteri' 'uterine corpus choriocarcinoma' EquivalentTo 'choriocarcinoma' and ('disease has location' some 'body of uterus') 'uterine corpus choriocarcinoma' SubClassOf 'choriocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004490 gestational uterine corpus choriocarcinoma 'gestational uterine corpus choriocarcinoma' SubClassOf 'gestational choriocarcinoma' 'gestational uterine corpus choriocarcinoma' SubClassOf 'uterine corpus choriocarcinoma' 'gestational uterine corpus choriocarcinoma' EquivalentTo 'gestational choriocarcinoma' and ('disease has location' some 'body of uterus') http://purl.obolibrary.org/obo/MONDO_0004492 mediastinitis 'mediastinitis' SubClassOf 'disease has location' some 'mediastinum' 'mediastinitis' SubClassOf 'disease has inflammation site' some 'mediastinum' 'mediastinitis' SubClassOf 'inflammatory disease' 'mediastinitis' EquivalentTo 'inflammatory disease' and ('disease has inflammation site' some 'mediastinum') http://purl.obolibrary.org/obo/UBERON_0008946 lung parenchyma 'lung parenchyma' SubClassOf 'lung structure' 'lung parenchyma' SubClassOf 'part of' some 'lung' http://purl.obolibrary.org/obo/UBERON_0008971 left colon 'left colon' SubClassOf 'anatomical structure' 'left colon' SubClassOf 'part of' some 'colon' http://purl.obolibrary.org/obo/UBERON_0008974 apocrine gland 'apocrine gland' SubClassOf 'part of' some 'exocrine system' 'apocrine gland' SubClassOf 'gland' http://purl.obolibrary.org/obo/UBERON_0008982 fascia 'fascia' SubClassOf 'connective tissue' 'fascia' SubClassOf 'part of' some 'musculoskeletal system' http://purl.obolibrary.org/obo/MONDO_0004504 penile urethral cancer 'penile urethral cancer' SubClassOf 'male urethral cancer' 'penile urethral cancer' EquivalentTo 'urethra cancer' and ('disease has location' some 'penis') 'penile urethral cancer' SubClassOf 'penile cancer' http://purl.obolibrary.org/obo/MONDO_0004501 fallopian tube cystadenofibroma 'fallopian tube cystadenofibroma' EquivalentTo 'cystadenofibroma' and ('disease has location' some 'fallopian tube') 'fallopian tube cystadenofibroma' SubClassOf 'cystadenofibroma' 'fallopian tube cystadenofibroma' SubClassOf 'fallopian tube serous adenofibroma' http://purl.obolibrary.org/obo/MONDO_0004513 adult pleomorphic rhabdomyosarcoma 'adult pleomorphic rhabdomyosarcoma' SubClassOf 'pleomorphic rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0004517 ureter tuberculosis 'ureter tuberculosis' SubClassOf 'bacterial urinary tract infection' 'ureter tuberculosis' EquivalentTo 'tuberculosis' and ('disease has location' some 'ureter') 'ureter tuberculosis' SubClassOf 'ureteral disorder' 'ureter tuberculosis' SubClassOf 'urogenital tuberculosis' http://purl.obolibrary.org/obo/MONDO_0004519 synovial angioma 'synovial angioma' SubClassOf 'hemangioma' 'synovial angioma' EquivalentTo 'hemangioma' and ('disease has location' some 'layer of synovial tissue') 'synovial angioma' SubClassOf 'benign synovial neoplasm' 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' EquivalentTo 'oxyphilic adenoma' and ('disease has location' some 'parathyroid gland') 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' EquivalentTo 'sarcoma' and ('disease has location' some 'meningeal cluster') http://purl.obolibrary.org/obo/MONDO_0004312 suprasellar meningioma 'suprasellar meningioma' SubClassOf 'skull base meningioma' 'suprasellar meningioma' SubClassOf 'disorder of facial skeleton' 'suprasellar meningioma' EquivalentTo 'meningioma' and ('disease has location' some 'sella turcica') 'suprasellar meningioma' SubClassOf 'disease has location' some 'sella turcica' 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' http://purl.obolibrary.org/obo/MONDO_0004310 adult embryonal tumor with multilayered rosettes, c19mc-altered 'adult embryonal tumor with multilayered rosettes, c19mc-altered' SubClassOf 'adult central nervous system primitive neuroectodermal neoplasm' 'adult embryonal tumor with multilayered rosettes, c19mc-altered' SubClassOf 'ependymoblastoma' http://purl.obolibrary.org/obo/MONDO_0004328 maxillary sinus adenocarcinoma 'maxillary sinus adenocarcinoma' SubClassOf 'adenocarcinoma' 'maxillary sinus adenocarcinoma' SubClassOf 'maxillary sinus carcinoma' 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' http://purl.obolibrary.org/obo/MONDO_0004324 testicular fibroma 'testicular fibroma' EquivalentTo 'fibroma' and ('disease has location' some 'testis') 'testicular fibroma' SubClassOf 'fibroma' 'testicular fibroma' SubClassOf 'testicular sex cord-stromal neoplasm' http://purl.obolibrary.org/obo/MONDO_0004320 adult infiltrating astrocytic neoplasm 'adult infiltrating astrocytic neoplasm' SubClassOf 'adult astrocytic tumor' 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' 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 'realized in' some 'corticotropin secretion' 'pancreatic ACTH-producing neuroendocrine tumor' EquivalentTo 'functional pancreatic neuroendocrine tumor' and ('realized in' some 'corticotropin secretion') http://purl.obolibrary.org/obo/MONDO_0004336 rectal signet ring cell adenocarcinoma 'rectal signet ring cell adenocarcinoma' EquivalentTo 'signet ring cell carcinoma' and ('disease has location' some 'rectum') 'rectal signet ring cell adenocarcinoma' SubClassOf 'rectal adenocarcinoma' 'rectal signet ring cell adenocarcinoma' SubClassOf 'colorectal signet ring cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004330 leptomeningeal sarcoma 'leptomeningeal sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'leptomeninx') 'leptomeningeal sarcoma' SubClassOf 'malignant leptomeningeal tumor' 'leptomeningeal sarcoma' SubClassOf 'meningeal sarcoma' http://purl.obolibrary.org/obo/MONDO_0004349 retina lymphoma 'retina lymphoma' SubClassOf 'eye lymphoma' 'retina lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'retina') 'retina lymphoma' SubClassOf 'retinal cancer' 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' EquivalentTo 'cystadenocarcinoma' and ('disease has location' some 'pancreatic acinar cell') http://purl.obolibrary.org/obo/MONDO_0043919 radiation pneumonitis 'radiation pneumonitis' SubClassOf 'radiation-induced disorder' 'radiation pneumonitis' SubClassOf 'interstitial lung disease' 'radiation pneumonitis' SubClassOf 'pneumonitis' http://purl.obolibrary.org/obo/MONDO_0004363 adult spinal cord glioblastoma 'adult spinal cord glioblastoma' SubClassOf 'adult glioblastoma' 'adult spinal cord glioblastoma' SubClassOf 'Spinal Cord Astrocytoma' http://purl.obolibrary.org/obo/MONDO_0004360 breast extraskeletal osteosarcoma 'breast extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'breast extraskeletal osteosarcoma' EquivalentTo 'osteosarcoma' and ('disease has location' some 'breast') 'breast extraskeletal osteosarcoma' SubClassOf 'breast sarcoma' http://purl.obolibrary.org/obo/MONDO_0004378 pediatric cerebral ependymoblastoma 'pediatric cerebral ependymoblastoma' SubClassOf 'cerebral hemisphere cancer' 'pediatric cerebral ependymoblastoma' SubClassOf 'childhood central nervous system primitive neuroectodermal neoplasm' 'pediatric cerebral ependymoblastoma' SubClassOf 'ependymoblastoma' 'pediatric cerebral ependymoblastoma' SubClassOf 'intracranial primitive neuroectodermal tumor' http://purl.obolibrary.org/obo/MONDO_0004374 adult extraskeletal osteosarcoma 'adult extraskeletal osteosarcoma' SubClassOf 'Malignant Bone Neoplasm' 'adult extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 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' EquivalentTo 'inverted papilloma' and ('disease has location' some 'maxillary sinus') 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' http://purl.obolibrary.org/obo/MONDO_0004398 mediastinal schwannoma 'mediastinal schwannoma' EquivalentTo 'schwannoma' and ('disease has location' some 'mediastinum') 'mediastinal schwannoma' SubClassOf 'peripheral nerve schwannoma' 'mediastinal schwannoma' SubClassOf 'mediastinal neural neoplasm' 'mediastinal schwannoma' SubClassOf 'benign glioma' 'mediastinal schwannoma' SubClassOf 'benign neoplasm of peripheral nervous system' 'mediastinal schwannoma' SubClassOf 'benign neoplasm of mediastinum' 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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'maxillary sinus') 'maxillary sinus squamous cell carcinoma' SubClassOf 'oral squamous cell carcinoma' 'maxillary sinus squamous cell carcinoma' SubClassOf 'paranasal sinus squamous cell carcinoma' http://purl.obolibrary.org/obo/UBERON_0008861 pyloric gastric gland 'pyloric gastric gland' SubClassOf 'part of' some 'digestive system' 'pyloric gastric gland' SubClassOf 'gland' 'pyloric gastric gland' SubClassOf 'part of' some 'digestive tract' 'pyloric gastric gland' SubClassOf 'part of' some 'exocrine system' 'pyloric gastric gland' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0008878 palmar part of manus 'palmar part of manus' SubClassOf 'part of' some 'multicellular organism' 'palmar part of manus' SubClassOf 'part of' some 'forelimb' 'palmar part of manus' SubClassOf 'part of' some 'limb' 'palmar part of manus' SubClassOf 'anatomical structure' 'palmar part of manus' SubClassOf 'part of' some 'appendage' 'palmar part of manus' SubClassOf 'part of' some 'manus' http://purl.obolibrary.org/obo/MONDO_0004207 pulmonary artery leiomyosarcoma 'pulmonary artery leiomyosarcoma' SubClassOf 'disease has location' some 'pulmonary artery' 'pulmonary artery leiomyosarcoma' SubClassOf 'arterial disorder' 'pulmonary artery leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'pulmonary artery leiomyosarcoma' SubClassOf 'angiosarcoma' 'pulmonary artery leiomyosarcoma' EquivalentTo 'leiomyosarcoma' and ('disease has location' some 'pulmonary artery') 'pulmonary artery leiomyosarcoma' SubClassOf 'great vessel cancer' http://purl.obolibrary.org/obo/MONDO_0004204 squamous cell skin papilloma 'squamous cell skin papilloma' EquivalentTo 'squamous papilloma' and ('disease has location' some 'zone of skin') 'squamous cell skin papilloma' SubClassOf 'skin papilloma' 'squamous cell skin papilloma' SubClassOf 'squamous papilloma' http://purl.obolibrary.org/obo/MONDO_0004217 childhood brain germinoma 'childhood brain germinoma' SubClassOf 'brain germinoma' 'childhood brain germinoma' SubClassOf 'childhood central nervous system germinoma' http://purl.obolibrary.org/obo/MONDO_0004216 pineal region germinoma 'pineal region germinoma' SubClassOf 'brain germinoma' 'pineal region germinoma' EquivalentTo 'germinoma' and ('disease has location' some 'pineal body') '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' EquivalentTo 'anthrax infection' and ('disease has location' some 'zone of skin') 'cutaneous anthrax' SubClassOf 'skin disease caused by bacterial infection' http://purl.obolibrary.org/obo/MONDO_0004223 polyp of middle ear 'polyp of middle ear' EquivalentTo 'polyp' and ('disease has location' some 'middle ear') 'polyp of middle ear' SubClassOf 'polyp' 'polyp of middle ear' SubClassOf 'neoplasm of middle ear' http://purl.obolibrary.org/obo/MONDO_0004221 uterine corpus perivascular epithelioid cell tumor 'uterine corpus perivascular epithelioid cell tumor' EquivalentTo 'PEComa' and ('disease has location' some 'body of uterus') 'uterine corpus perivascular epithelioid cell tumor' SubClassOf 'mixed endometrial stromal and smooth muscle tumor' 'uterine corpus perivascular epithelioid cell tumor' SubClassOf 'PEComa' http://purl.obolibrary.org/obo/MONDO_0004239 cervical keratinizing squamous cell carcinoma 'cervical keratinizing squamous cell carcinoma' EquivalentTo 'keratinizing squamous cell carcinoma' and ('disease has location' some 'uterine cervix') '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_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' http://purl.obolibrary.org/obo/MONDO_0004233 childhood pleomorphic rhabdomyosarcoma 'childhood pleomorphic rhabdomyosarcoma' SubClassOf 'pleomorphic rhabdomyosarcoma' 'childhood pleomorphic rhabdomyosarcoma' SubClassOf 'childhood cancer' http://purl.obolibrary.org/obo/GO_0006909 phagocytosis 'phagocytosis' SubClassOf 'cellular process' 'phagocytosis' SubClassOf 'transport' http://purl.obolibrary.org/obo/GO_0006911 phagocytosis, engulfment 'phagocytosis, engulfment' SubClassOf 'cellular component organization' 'phagocytosis, engulfment' SubClassOf 'part of' some 'phagocytosis' 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 'malignant childhood germ cell neoplasm' 'childhood central nervous system mixed germ cell tumor' SubClassOf 'mixed germ cell tumor of central nervous system' 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' EquivalentTo 'papillary adenoma' and ('disease has location' some 'extrahepatic bile duct') 'extrahepatic bile duct papillary adenoma' SubClassOf 'bile duct papillary neoplasm' 'extrahepatic bile duct papillary adenoma' SubClassOf 'papillary adenoma' http://purl.obolibrary.org/obo/MONDO_0004265 acute endometritis 'acute endometritis' SubClassOf 'acute disease' 'acute endometritis' SubClassOf 'Endometritis' http://purl.obolibrary.org/obo/MONDO_0043836 tuberculosis, spinal 'tuberculosis, spinal' EquivalentTo 'tuberculosis' and ('disease has location' some 'vertebral column') 'tuberculosis, spinal' SubClassOf 'skeletal tuberculosis' 'tuberculosis, spinal' SubClassOf 'vertebral column disorder' 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' EquivalentTo 'tuberculosis' and ('disease has location' some 'urinary bladder') 'urinary bladder tuberculosis' SubClassOf 'bacterial urinary tract infection' http://purl.obolibrary.org/obo/MONDO_0004289 glottis verrucous carcinoma 'glottis verrucous carcinoma' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'glottis') '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' EquivalentTo 'Eccrine Porocarcinoma' and ('disease has location' some 'mammalian vulva') 'vulvar eccrine porocarcinoma' SubClassOf 'Eccrine Porocarcinoma' 'vulvar eccrine porocarcinoma' SubClassOf 'vulvar eccrine adenocarcinoma' http://purl.obolibrary.org/obo/GO_0006956 complement activation 'complement activation' SubClassOf 'immune system process' 'complement activation' SubClassOf 'regulation of immune system process' 'complement activation' SubClassOf 'response to stimulus' 'complement activation' SubClassOf 'regulation of response to stimulus' 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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'supraglottic part of larynx') http://purl.obolibrary.org/obo/MONDO_0004292 supraglottis verrucous carcinoma 'supraglottis verrucous carcinoma' SubClassOf 'supraglottis squamous cell carcinoma' 'supraglottis verrucous carcinoma' SubClassOf 'larynx verrucous carcinoma' 'supraglottis verrucous carcinoma' EquivalentTo 'verrucous carcinoma' and ('disease has location' some 'supraglottic part of larynx') http://purl.obolibrary.org/obo/MONDO_0004295 asbestos-related 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' EquivalentTo 'gestational choriocarcinoma' and ('disease has location' some 'ovary') 'gestational ovarian choriocarcinoma' SubClassOf 'malignant non-dysgerminomatous germ cell tumor of ovary' http://purl.obolibrary.org/obo/GO_0006878 intracellular copper ion homeostasis 'intracellular copper ion homeostasis' SubClassOf 'homeostatic process' http://purl.obolibrary.org/obo/GO_0006885 regulation of pH 'regulation of pH' SubClassOf 'homeostatic process' http://purl.obolibrary.org/obo/GO_0016250 N-sulfoglucosamine sulfohydrolase activity 'N-sulfoglucosamine sulfohydrolase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/UBERON_0018140 mammary lobe 'mammary lobe' SubClassOf 'part of' some 'mammary gland' 'mammary lobe' SubClassOf 'part of' some 'trunk' 'mammary lobe' SubClassOf 'anatomical structure' http://purl.obolibrary.org/obo/GO_0006826 iron ion transport 'iron ion transport' SubClassOf 'transport' http://purl.obolibrary.org/obo/GO_0006749 glutathione metabolic process 'glutathione metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'glutathione metabolic process' SubClassOf 'sulfur compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000626 vestibular gland benign neoplasm 'vestibular gland benign neoplasm' SubClassOf 'disease has location' some 'vestibular gland' 'vestibular gland benign neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'vestibular gland') 'vestibular gland benign neoplasm' SubClassOf 'vulvar benign neoplasm' http://purl.obolibrary.org/obo/GO_0006778 porphyrin-containing compound metabolic process 'porphyrin-containing compound metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'porphyrin-containing compound metabolic process' SubClassOf 'organic cyclic compound metabolic process' 'porphyrin-containing compound metabolic process' SubClassOf 'cellular aromatic compound metabolic process' 'porphyrin-containing compound metabolic process' SubClassOf 'heterocycle metabolic process' 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 'immune system disease' 'immune system organ benign neoplasm' SubClassOf 'disease has location' some 'immune organ' 'immune system organ benign neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'immune organ') http://purl.obolibrary.org/obo/MONDO_0000644 cervical benign neoplasm 'cervical benign neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'uterine cervix') 'cervical benign neoplasm' SubClassOf 'uterine cervix neoplasm' 'cervical benign neoplasm' SubClassOf 'uterine benign neoplasm' http://purl.obolibrary.org/obo/GO_0006790 sulfur compound metabolic process 'sulfur compound metabolic process' SubClassOf 'cellular metabolic process' 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' EquivalentTo 'benign neoplasm' and ('disease has location' some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0024616 tympanitis 'tympanitis' SubClassOf 'Otitis media' 'tympanitis' SubClassOf 'tympanic membrane disease' 'tympanitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'tympanic membrane') 'tympanitis' SubClassOf 'disease has inflammation site' some 'tympanic membrane' http://purl.obolibrary.org/obo/GO_0016126 sterol biosynthetic process 'sterol biosynthetic process' SubClassOf 'steroid biosynthetic process' 'sterol biosynthetic process' SubClassOf 'sterol metabolic process' http://purl.obolibrary.org/obo/GO_0016125 sterol metabolic process 'sterol metabolic process' SubClassOf 'steroid metabolic process' http://purl.obolibrary.org/obo/MONDO_0000666 associative visual agnosia 'associative visual agnosia' SubClassOf 'visual agnosia' http://purl.obolibrary.org/obo/MONDO_0000667 auditory agnosia 'auditory agnosia' SubClassOf 'agnosia' 'auditory agnosia' SubClassOf 'auditory perceptual disorders' http://purl.obolibrary.org/obo/MONDO_0024638 pancreatic gastrinoma 'pancreatic gastrinoma' SubClassOf 'pancreatic gastrin-producing neuroendocrine tumor' 'pancreatic gastrinoma' SubClassOf 'functional pancreatic neuroendocrine tumor' http://purl.obolibrary.org/obo/MONDO_0024655 rheumatic pericarditis 'rheumatic pericarditis' SubClassOf 'rheumatic heart disease' 'rheumatic pericarditis' EquivalentTo 'rheumatic heart disease' and ('disease has inflammation site' some 'pericardium') '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' http://purl.obolibrary.org/obo/MONDO_0024659 colorectal Kaposi sarcoma 'colorectal Kaposi sarcoma' SubClassOf 'Kaposi's sarcoma' 'colorectal Kaposi sarcoma' SubClassOf 'intestinal cancer' 'colorectal Kaposi sarcoma' SubClassOf 'digestive system infectious disorder' 'colorectal Kaposi sarcoma' EquivalentTo 'Kaposi's sarcoma' and ('disease has location' some 'large intestine') 'colorectal Kaposi sarcoma' SubClassOf 'large intestine disorder' http://purl.obolibrary.org/obo/MONDO_0024658 extrahepatic bile duct sarcoma 'extrahepatic bile duct sarcoma' SubClassOf 'bile duct sarcoma' 'extrahepatic bile duct sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some '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' http://purl.obolibrary.org/obo/MONDO_0010016 sclerosteosis 1 'sclerosteosis 1' SubClassOf 'sclerosteosis' http://purl.obolibrary.org/obo/MONDO_0024648 optic tract meningioma 'optic tract meningioma' EquivalentTo 'meningioma' and ('disease has location' some 'optic tract') 'optic tract meningioma' SubClassOf 'visual pathway disorder' 'optic tract meningioma' SubClassOf 'brain neoplasm' 'optic tract meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0024673 skin lymphangioma 'skin lymphangioma' SubClassOf 'benign epithelial skin neoplasm' 'skin lymphangioma' EquivalentTo 'lymphangioma' and ('disease has location' some 'zone of skin') 'skin lymphangioma' SubClassOf 'lymphangioma' http://purl.obolibrary.org/obo/MONDO_0024675 adult kidney Wilms tumor 'adult kidney Wilms tumor' SubClassOf 'kidney Wilms tumor' http://purl.obolibrary.org/obo/MONDO_0009035 craniometaphyseal dysplasia, autosomal recessive 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'craniometaphyseal dysplasia' 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'autosomal recessive disease' 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' http://purl.obolibrary.org/obo/GO_0016175 superoxide-generating NAD(P)H oxidase activity 'superoxide-generating NAD(P)H oxidase activity' SubClassOf 'catalytic activity' 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' 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' http://purl.obolibrary.org/obo/MONDO_0010053 hereditary spherocytosis type 3 'hereditary spherocytosis type 3' SubClassOf 'hereditary spherocytosis' http://purl.obolibrary.org/obo/MONDO_0009073 Ritscher-Schinzel syndrome 1 'Ritscher-Schinzel syndrome 1' SubClassOf 'Ritscher-Schinzel syndrome' http://purl.obolibrary.org/obo/HP_0007447 Diffuse palmoplantar hyperkeratosis 'Diffuse palmoplantar hyperkeratosis' SubClassOf 'Palmoplantar hyperkeratosis' 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 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0024487 nail infection 'nail infection' EquivalentTo 'infectious disease' and ('disease has location' some 'nail') 'nail infection' SubClassOf 'nail disorder' 'nail infection' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/GO_0006707 cholesterol catabolic process 'cholesterol catabolic process' SubClassOf 'cholesterol metabolic process' 'cholesterol catabolic process' SubClassOf 'lipid catabolic process' http://www.ebi.ac.uk/efo/EFO_0022598 maternal milk 'maternal milk' SubClassOf 'bodily fluid' http://www.ebi.ac.uk/efo/EFO_0022599 DNA methylation 'DNA methylation' SubClassOf 'macromolecule modification' 'DNA methylation' SubClassOf 'nucleobase-containing compound metabolic process' http://purl.obolibrary.org/obo/GO_0006744 ubiquinone biosynthetic process 'ubiquinone biosynthetic process' SubClassOf 'organic substance biosynthetic process' 'ubiquinone biosynthetic process' SubClassOf 'cellular biosynthetic process' http://purl.obolibrary.org/obo/GO_0006631 fatty acid metabolic process 'fatty acid metabolic process' SubClassOf 'organic acid metabolic process' 'fatty acid metabolic process' SubClassOf 'lipid metabolic process' http://purl.obolibrary.org/obo/MONDO_0000503 lung adenocarcinoma in situ 'lung adenocarcinoma in situ' EquivalentTo 'adenocarcinoma in situ' and ('disease has location' some 'lung') '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/GO_0006665 sphingolipid metabolic process 'sphingolipid metabolic process' SubClassOf 'lipid metabolic process' 'sphingolipid metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'sphingolipid metabolic process' SubClassOf 'cellular metabolic process' http://purl.obolibrary.org/obo/MONDO_0000513 bone ameloblastoma 'bone ameloblastoma' SubClassOf 'bone benign neoplasm' 'bone ameloblastoma' SubClassOf 'ameloblastoma' 'bone ameloblastoma' EquivalentTo 'ameloblastoma' and ('disease has location' some 'bone tissue') http://purl.obolibrary.org/obo/MONDO_0000517 brain stem medulloblastoma 'brain stem medulloblastoma' SubClassOf 'brain stem neoplasm' 'brain stem medulloblastoma' SubClassOf 'medulloblastoma' 'brain stem medulloblastoma' EquivalentTo 'medulloblastoma' and ('disease has location' some 'brainstem') http://purl.obolibrary.org/obo/MONDO_0000534 trachea mucoepidermoid carcinoma 'trachea mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'trachea mucoepidermoid carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and ('disease has location' some 'trachea') 'trachea mucoepidermoid carcinoma' SubClassOf 'Tracheal Carcinoma' http://purl.obolibrary.org/obo/MONDO_0000531 bronchus mucoepidermoid carcinoma 'bronchus mucoepidermoid carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and ('disease has location' some 'bronchus') 'bronchus mucoepidermoid carcinoma' SubClassOf 'pulmonary mucoepidermoid carcinoma' 'bronchus mucoepidermoid carcinoma' SubClassOf 'bronchogenic carcinoma' http://purl.obolibrary.org/obo/MONDO_0000541 jejunal adenocarcinoma 'jejunal adenocarcinoma' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'jejunum') 'jejunal adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' 'jejunal adenocarcinoma' SubClassOf 'jejunal cancer' http://purl.obolibrary.org/obo/MONDO_0000545 sublingual gland adenoid cystic carcinoma 'sublingual gland adenoid cystic carcinoma' SubClassOf 'major salivary gland adenoid cystic carcinoma' 'sublingual gland adenoid cystic carcinoma' SubClassOf 'sublingual gland carcinoma' 'sublingual gland adenoid cystic carcinoma' EquivalentTo 'adenoid cystic carcinoma' and ('disease has location' some 'sublingual gland') http://purl.obolibrary.org/obo/MONDO_0000543 ovarian melanoma 'ovarian melanoma' SubClassOf 'ovarian neoplasm' 'ovarian melanoma' EquivalentTo 'metastatic melanoma' and ('disease has location' some 'ovary') 'ovarian melanoma' SubClassOf 'metastatic melanoma' http://purl.obolibrary.org/obo/GO_0006694 steroid biosynthetic process 'steroid biosynthetic process' SubClassOf 'organic cyclic compound biosynthetic process' 'steroid biosynthetic process' SubClassOf 'steroid metabolic process' http://purl.obolibrary.org/obo/GO_0006695 cholesterol biosynthetic process 'cholesterol biosynthetic process' SubClassOf 'cholesterol metabolic process' 'cholesterol biosynthetic process' SubClassOf 'sterol biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0000549 cervical neuroblastoma 'cervical neuroblastoma' SubClassOf 'extracranial neuroblastoma' 'cervical neuroblastoma' SubClassOf 'neoplasm of neck' 'cervical neuroblastoma' EquivalentTo 'neuroblastoma' and ('disease has location' some 'neck') http://purl.obolibrary.org/obo/GO_0016012 sarcoglycan complex 'sarcoglycan complex' SubClassOf 'part of' some 'membrane' 'sarcoglycan complex' SubClassOf 'cellular_component' 'sarcoglycan complex' SubClassOf 'part of' some 'plasma membrane' http://purl.obolibrary.org/obo/GO_0006699 bile acid biosynthetic process 'bile acid biosynthetic process' SubClassOf 'organic acid metabolic process' 'bile acid biosynthetic process' SubClassOf 'cellular biosynthetic process' 'bile acid biosynthetic process' SubClassOf 'steroid biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0000553 uterine corpus endometrial carcinoma 'uterine corpus endometrial carcinoma' SubClassOf 'uterine corpus cancer' 'uterine corpus endometrial carcinoma' EquivalentTo 'endometrial carcinoma' and ('disease has location' some 'body of uterus') 'uterine corpus endometrial carcinoma' SubClassOf 'endometrial carcinoma' http://purl.obolibrary.org/obo/MONDO_0024531 myopathy, tubular aggregate, 1 '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' 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' http://purl.obolibrary.org/obo/MONDO_0024537 Brown-Vialetto-van Laere syndrome 1 'Brown-Vialetto-van Laere syndrome 1' SubClassOf 'riboflavin transporter deficiency' http://purl.obolibrary.org/obo/HP_0007354 Amyotrophic lateral sclerosis 'Amyotrophic lateral sclerosis' SubClassOf 'Atrophy/Degeneration affecting the central nervous system' 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 'neurovascular disorder' 'choroidal dystrophy, central areolar, 1' SubClassOf 'GUCY2D-related dominant retinopathy' 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' http://purl.obolibrary.org/obo/GO_0016042 lipid catabolic process 'lipid catabolic process' SubClassOf 'lipid metabolic process' http://purl.obolibrary.org/obo/MONDO_0024550 frontometaphyseal dysplasia 1 'frontometaphyseal dysplasia 1' SubClassOf 'frontometaphyseal dysplasia' 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' http://purl.obolibrary.org/obo/MONDO_0024545 Miyoshi muscular dystrophy 1 'Miyoshi muscular dystrophy 1' SubClassOf 'Miyoshi myopathy' 'Miyoshi muscular dystrophy 1' SubClassOf 'qualitative or quantitative defects of dysferlin' http://purl.obolibrary.org/obo/MONDO_0024547 pancreatic agenesis 1 'pancreatic agenesis 1' SubClassOf 'pancreatic agenesis' http://purl.obolibrary.org/obo/GO_0016068 type I hypersensitivity 'type I hypersensitivity' SubClassOf 'hypersensitivity' http://purl.obolibrary.org/obo/MONDO_0024570 hyperparathyroidism 4 'hyperparathyroidism 4' SubClassOf 'familial isolated hyperparathyroidism' 'hyperparathyroidism 4' SubClassOf 'bone neoplasm' 'hyperparathyroidism 4' SubClassOf 'abnormal mineralization disorder' 'hyperparathyroidism 4' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0024562 sick sinus syndrome 1 'sick sinus syndrome 1' SubClassOf 'familial sick sinus syndrome' 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' http://purl.obolibrary.org/obo/MONDO_0024561 vitelliform macular dystrophy 3 'vitelliform macular dystrophy 3' SubClassOf 'adult-onset foveomacular vitelliform dystrophy' 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 'REM sleep behavior disorder' http://purl.obolibrary.org/obo/GO_0006601 creatine biosynthetic process 'creatine biosynthetic process' SubClassOf 'cellular biosynthetic process' 'creatine biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' 'creatine biosynthetic process' SubClassOf 'creatine metabolic process' http://purl.obolibrary.org/obo/GO_0006600 creatine metabolic process 'creatine metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'creatine metabolic process' SubClassOf 'organic acid metabolic process' http://purl.obolibrary.org/obo/GO_0006517 protein deglycosylation 'protein deglycosylation' SubClassOf 'glycoprotein metabolic process' 'protein deglycosylation' SubClassOf 'protein modification process' http://purl.obolibrary.org/obo/GO_0006520 amino acid metabolic process 'amino acid metabolic process' SubClassOf 'organic substance metabolic process' 'amino acid metabolic process' SubClassOf 'primary metabolic process' http://purl.obolibrary.org/obo/UBERON_0004088 orbital region 'orbital region' SubClassOf 'part of' some 'multicellular organism' 'orbital region' SubClassOf 'anatomical structure' 'orbital region' SubClassOf 'part of' some 'head' 'orbital region' SubClassOf 'part of' some 'face' http://purl.obolibrary.org/obo/GO_0006541 glutamine metabolic process 'glutamine metabolic process' SubClassOf 'organic acid metabolic process' 'glutamine metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'glutamine metabolic process' SubClassOf 'amino acid metabolic process' http://purl.obolibrary.org/obo/GO_0006544 glycine metabolic process 'glycine metabolic process' SubClassOf 'serine family amino acid metabolic process' http://purl.obolibrary.org/obo/GO_0006547 histidine metabolic process 'histidine metabolic process' SubClassOf 'organic acid metabolic process' 'histidine metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000405 anal canal cancer 'anal canal cancer' SubClassOf 'intestinal cancer' 'anal canal cancer' EquivalentTo 'cancer' and ('disease has location' some 'anal canal') 'anal canal cancer' SubClassOf 'large intestine disorder' 'anal canal cancer' SubClassOf 'disease has location' some 'anal canal' http://purl.obolibrary.org/obo/GO_0006558 L-phenylalanine metabolic process 'L-phenylalanine metabolic process' SubClassOf 'amino acid metabolic process' 'L-phenylalanine metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'L-phenylalanine metabolic process' SubClassOf 'organic cyclic compound metabolic process' 'L-phenylalanine metabolic process' SubClassOf 'cellular aromatic compound metabolic process' 'L-phenylalanine metabolic process' SubClassOf 'organic acid 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' http://purl.obolibrary.org/obo/GO_0006560 proline metabolic process 'proline metabolic process' SubClassOf 'amino acid metabolic process' 'proline metabolic process' SubClassOf 'organic acid metabolic process' 'proline metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/GO_0006564 L-serine biosynthetic process 'L-serine biosynthetic process' SubClassOf 'serine family amino acid metabolic process' 'L-serine biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' 'L-serine biosynthetic process' SubClassOf 'cellular biosynthetic process' http://purl.obolibrary.org/obo/GO_0006568 tryptophan metabolic process 'tryptophan metabolic process' SubClassOf 'heterocycle metabolic process' 'tryptophan metabolic process' SubClassOf 'organic cyclic compound metabolic process' 'tryptophan metabolic process' SubClassOf 'cellular aromatic compound metabolic process' 'tryptophan metabolic process' SubClassOf 'organic acid metabolic process' 'tryptophan metabolic process' SubClassOf 'amino acid metabolic process' 'tryptophan metabolic process' SubClassOf 'cellular nitrogen compound metabolic process' 'tryptophan metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/GO_0006570 tyrosine metabolic process 'tyrosine metabolic process' SubClassOf 'cellular aromatic compound metabolic process' 'tyrosine metabolic process' SubClassOf 'amino acid metabolic process' 'tyrosine metabolic process' SubClassOf 'organic acid metabolic process' 'tyrosine metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'tyrosine metabolic process' SubClassOf 'organic cyclic compound metabolic process' http://purl.obolibrary.org/obo/GO_0006573 valine metabolic process 'valine metabolic process' SubClassOf 'branched-chain amino acid metabolic process' http://purl.obolibrary.org/obo/GO_0006572 tyrosine catabolic process 'tyrosine catabolic process' SubClassOf 'tyrosine metabolic process' http://purl.obolibrary.org/obo/MONDO_0024415 hemorrhagic duodenitis 'hemorrhagic duodenitis' SubClassOf 'duodenitis' http://purl.obolibrary.org/obo/GO_0006591 ornithine metabolic process 'ornithine metabolic process' SubClassOf 'amino acid metabolic process' 'ornithine metabolic process' SubClassOf 'organic acid metabolic process' 'ornithine metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0024422 auditory perceptual disorders 'auditory perceptual disorders' SubClassOf 'mental or behavioural disorder' 'auditory perceptual disorders' SubClassOf 'hearing disorder' http://purl.obolibrary.org/obo/MONDO_0024459 Aeromonas hydrophila intestinal disease 'Aeromonas hydrophila intestinal disease' SubClassOf 'Aeromonas hydrophila infection' 'Aeromonas hydrophila intestinal disease' SubClassOf 'intestinal disease' 'Aeromonas hydrophila intestinal disease' SubClassOf 'digestive system infectious disorder' http://purl.obolibrary.org/obo/GO_0031594 neuromuscular junction 'neuromuscular junction' SubClassOf 'synapse' http://purl.obolibrary.org/obo/MONDO_0000497 pyometritis 'pyometritis' SubClassOf 'inflammatory disease' 'pyometritis' SubClassOf 'uterine disorder' 'pyometritis' SubClassOf 'disease has inflammation site' some 'myometrium' 'pyometritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'myometrium') http://purl.obolibrary.org/obo/MONDO_0000496 hemorrhagic cystitis 'hemorrhagic cystitis' SubClassOf 'cystitis' http://purl.obolibrary.org/obo/MONDO_0000491 limb ischemia 'limb ischemia' SubClassOf 'ischemic disease' 'limb ischemia' SubClassOf 'disease has location' some 'limb' 'limb ischemia' EquivalentTo 'ischemic disease' and ('disease has location' some 'limb') http://purl.obolibrary.org/obo/MONDO_0000286 Epstein-Barr virus hepatitis 'Epstein-Barr virus hepatitis' EquivalentTo 'disease' and ('disease has primary infectious agent' some 'Human herpesvirus 4') and ('disease has inflammation site' some 'liver') 'Epstein-Barr virus hepatitis' SubClassOf 'skin disorder caused by infection' 'Epstein-Barr virus hepatitis' SubClassOf 'Epstein-Barr virus infection' 'Epstein-Barr virus hepatitis' SubClassOf 'viral human hepatitis infection' http://purl.obolibrary.org/obo/MONDO_0024279 chronic endometritis 'chronic endometritis' SubClassOf 'Endometritis' http://purl.obolibrary.org/obo/MONDO_0024278 proctocolitis 'proctocolitis' SubClassOf 'colitis' 'proctocolitis' SubClassOf 'disease has inflammation site' some 'colorectum' 'proctocolitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'colorectum') 'proctocolitis' SubClassOf 'proctitis' http://purl.obolibrary.org/obo/GO_0006506 GPI anchor biosynthetic process 'GPI anchor biosynthetic process' SubClassOf 'phosphate-containing compound metabolic process' 'GPI anchor biosynthetic process' SubClassOf 'organophosphate biosynthetic process' 'GPI anchor biosynthetic process' SubClassOf 'carbohydrate derivative biosynthetic process' 'GPI anchor biosynthetic process' SubClassOf 'lipid metabolic process' 'GPI anchor biosynthetic process' SubClassOf 'protein modification process' 'GPI anchor biosynthetic process' SubClassOf 'cellular biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0014903 seizures, benign familial infantile, 5 'seizures, benign familial infantile, 5' SubClassOf 'benign familial infantile epilepsy' 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 'neonatal-onset developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014929 retinitis pigmentosa 76 'retinitis pigmentosa 76' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0014935 frontometaphyseal dysplasia 2 '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' http://purl.obolibrary.org/obo/MONDO_0000313 hypophosphatemia 'hypophosphatemia' SubClassOf 'phosphorus metabolism disease' http://purl.obolibrary.org/obo/MONDO_0000320 glandular tularemia 'glandular tularemia' EquivalentTo 'Tularemia' and ('disease has location' some 'lymph node') 'glandular tularemia' SubClassOf 'lymph node disorder' 'glandular tularemia' SubClassOf 'Tularemia' http://purl.obolibrary.org/obo/GO_0031424 keratinization 'keratinization' SubClassOf 'multicellular organismal process' http://purl.obolibrary.org/obo/GO_0006493 protein O-linked glycosylation 'protein O-linked glycosylation' SubClassOf 'protein glycosylation' http://purl.obolibrary.org/obo/MONDO_0024336 vulvar adenocarcinoma 'vulvar adenocarcinoma' SubClassOf 'vulvar carcinoma' 'vulvar adenocarcinoma' SubClassOf 'adenocarcinoma' 'vulvar adenocarcinoma' EquivalentTo 'adenocarcinoma' and ('disease has location' some 'mammalian vulva') 'vulvar adenocarcinoma' SubClassOf 'vulvar glandular neoplasm' http://purl.obolibrary.org/obo/MONDO_0024330 infectious otitis media 'infectious otitis media' SubClassOf 'infectious disorder of the nervous system' 'infectious otitis media' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'middle ear') 'infectious otitis media' SubClassOf 'Otitis media' 'infectious otitis media' SubClassOf 'ear infection' http://purl.obolibrary.org/obo/MONDO_0000375 bronchus carcinoma in situ 'bronchus carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'bronchus') 'bronchus carcinoma in situ' SubClassOf 'bronchogenic carcinoma' 'bronchus carcinoma in situ' SubClassOf 'lung carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0000374 bile duct carcinoma in situ 'bile duct carcinoma in situ' SubClassOf 'bile duct carcinoma' 'bile duct carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'bile duct') 'bile duct carcinoma in situ' SubClassOf 'liver carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0000373 gall bladder carcinoma in situ 'gall bladder carcinoma in situ' SubClassOf 'liver carcinoma in situ' 'gall bladder carcinoma in situ' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'gallbladder') 'gall bladder carcinoma in situ' SubClassOf 'in situ carcinoma' 'gall bladder carcinoma in situ' SubClassOf 'gallbladder 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' http://purl.obolibrary.org/obo/MONDO_0000377 malignant Leydig cell tumor 'malignant Leydig cell tumor' SubClassOf 'reproductive system cancer' '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' EquivalentTo 'in situ carcinoma' and ('disease has location' some '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' EquivalentTo 'in situ carcinoma' and ('disease has location' some 'oral cavity') http://purl.obolibrary.org/obo/MONDO_0024354 cytomegalovirus pneumonia 'cytomegalovirus pneumonia' SubClassOf 'cytomegalovirus infection' 'cytomegalovirus pneumonia' SubClassOf 'viral pneumonia' http://purl.obolibrary.org/obo/MONDO_0000384 bladder benign neoplasm 'bladder benign neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'urinary bladder') 'bladder benign neoplasm' SubClassOf 'bladder tumor' 'bladder benign neoplasm' SubClassOf 'benign urinary system neoplasm' http://purl.obolibrary.org/obo/MONDO_0024357 drug induced central sleep apnea 'drug induced central sleep apnea' SubClassOf 'central sleep apnea syndrome' 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' EquivalentTo 'infiltrating urothelial carcinoma' and ('disease has location' some 'renal pelvis') 'infiltrating renal pelvis transitional cell carcinoma' SubClassOf 'infiltrating renal pelvis/ureter urothelial carcinoma' http://purl.obolibrary.org/obo/MONDO_0000397 ataxic cerebral palsy 'ataxic cerebral palsy' SubClassOf 'disease has basis in dysfunction of' some 'cerebellum' 'ataxic cerebral palsy' EquivalentTo 'cerebral palsy' and ('disease has basis in dysfunction of' some 'cerebellum') 'ataxic cerebral palsy' SubClassOf 'cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0024340 retinal neuroblastoma 'retinal neuroblastoma' SubClassOf 'Retinal Neoplasm' 'retinal neuroblastoma' SubClassOf 'neuroblastoma' 'retinal neuroblastoma' EquivalentTo 'neuroblastoma' and ('disease has location' some 'retina') http://purl.obolibrary.org/obo/GO_0070991 medium-chain fatty acyl-CoA dehydrogenase activity 'medium-chain fatty acyl-CoA dehydrogenase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0700127 mosaic trisomy 21 'mosaic trisomy 21' SubClassOf 'trisomy 21' http://purl.obolibrary.org/obo/MONDO_0700126 trisomy 21 'trisomy 21' SubClassOf 'Down syndrome' 'trisomy 21' SubClassOf 'trisomy' http://purl.obolibrary.org/obo/UBERON_0004638 blood vessel endothelium 'blood vessel endothelium' SubClassOf 'part of' some 'cardiovascular system' 'blood vessel endothelium' SubClassOf 'part of' some 'blood vessel' 'blood vessel endothelium' EquivalentTo 'endothelium' and ('part of' some 'blood vessel') 'blood vessel endothelium' SubClassOf 'endothelium' http://purl.obolibrary.org/obo/UBERON_0004645 urinary bladder urothelium 'urinary bladder urothelium' SubClassOf 'part of' some 'mucosa of urinary bladder' 'urinary bladder urothelium' SubClassOf 'part of' some 'urinary bladder' 'urinary bladder urothelium' EquivalentTo 'urothelium' and ('part of' some 'urinary bladder') 'urinary bladder urothelium' SubClassOf 'urothelium' 'urinary bladder urothelium' SubClassOf 'part of' some 'mucosa' http://purl.obolibrary.org/obo/MONDO_0024183 wet beriberi 'wet beriberi' EquivalentTo 'beriberi' and ('disease has location' some 'nervous system') 'wet beriberi' SubClassOf 'beriberi' 'wet beriberi' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/UBERON_0004670 ependyma 'ependyma' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/MONDO_0014802 Cowden syndrome 7 'Cowden syndrome 7' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/HP_0007858 Chorioretinal lacunae 'Chorioretinal lacunae' SubClassOf 'Abnormal retinal morphology' 'Chorioretinal lacunae' SubClassOf 'Abnormal choroid morphology' http://purl.obolibrary.org/obo/MONDO_0014835 striatal degeneration, autosomal dominant 2 'striatal degeneration, autosomal dominant 2' SubClassOf 'striatal degeneration, autosomal dominant' http://purl.obolibrary.org/obo/GO_0070914 UV-damage excision repair 'UV-damage excision repair' SubClassOf 'DNA repair' 'UV-damage excision repair' SubClassOf 'cellular response to abiotic stimulus' 'UV-damage excision repair' SubClassOf 'response to radiation' http://purl.obolibrary.org/obo/MONDO_0014844 premature ovarian failure 12 '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' http://purl.obolibrary.org/obo/MONDO_0014851 hypercalcemia, infantile, 2 'hypercalcemia, infantile, 2' SubClassOf 'hypercalcemia, infantile' http://purl.obolibrary.org/obo/MONDO_0000224 acquired carbohydrate metabolism disease 'acquired carbohydrate metabolism disease' SubClassOf 'acquired metabolic disease' 'acquired carbohydrate metabolism disease' SubClassOf 'carbohydrate metabolism disease' http://purl.obolibrary.org/obo/MONDO_0014867 spinocerebellar ataxia 43 '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' http://purl.obolibrary.org/obo/MONDO_0014864 hypermanganesemia with dystonia 2 'hypermanganesemia with dystonia 2' SubClassOf 'hereditary neurological disease' 'hypermanganesemia with dystonia 2' SubClassOf 'autosomal recessive disease' 'hypermanganesemia with dystonia 2' SubClassOf 'hypermanganesemia with dystonia' 'hypermanganesemia with dystonia 2' SubClassOf 'disorder of manganese transport' http://purl.obolibrary.org/obo/MONDO_0000236 oropharyngeal anthrax 'oropharyngeal anthrax' SubClassOf 'disorder of pharynx' 'oropharyngeal anthrax' EquivalentTo 'anthrax infection' and ('disease has location' some 'oropharynx') 'oropharyngeal anthrax' SubClassOf 'disease has location' some 'oropharynx' 'oropharyngeal anthrax' SubClassOf 'gastrointestinal anthrax' 'oropharyngeal anthrax' SubClassOf 'digestive system infectious disorder' http://purl.obolibrary.org/obo/MONDO_0700051 liver abscess (disease) 'liver abscess (disease)' SubClassOf 'abscess' 'liver abscess (disease)' SubClassOf 'liver disease' 'liver abscess (disease)' SubClassOf 'digestive system infectious disorder' 'liver abscess (disease)' EquivalentTo 'abscess' and ('disease has location' some 'liver') 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' 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 'hereditary neoplastic syndrome' 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' http://purl.obolibrary.org/obo/MONDO_0700035 monosomy chromosome 8 'monosomy chromosome 8' SubClassOf 'monosomy' 'monosomy chromosome 8' SubClassOf 'chromosome 8 disorder' http://purl.obolibrary.org/obo/MONDO_0000262 otomycosis 'otomycosis' EquivalentTo 'fungal infectious disease' and ('disease has location' some 'external ear') 'otomycosis' SubClassOf 'tinea' 'otomycosis' SubClassOf 'otitis externa' http://purl.obolibrary.org/obo/MONDO_0014687 retinitis pigmentosa 73 'retinitis pigmentosa 73' SubClassOf 'retinitis pigmentosa' 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 'follicular thyroid carcinoma' http://purl.obolibrary.org/obo/UBERON_0004573 systemic artery 'pulmonary artery' DisjointWith 'systemic artery' 'systemic artery' SubClassOf 'artery' http://purl.obolibrary.org/obo/HP_0007773 Vitreoretinopathy 'Vitreoretinopathy' SubClassOf 'Abnormal posterior eye segment morphology' http://purl.obolibrary.org/obo/HP_0007707 Congenital aphakia 'Congenital aphakia' SubClassOf 'Abnormal lens morphology' 'Congenital aphakia' SubClassOf 'Ocular anterior segment dysgenesis' http://purl.obolibrary.org/obo/GO_0006206 pyrimidine nucleobase metabolic process 'pyrimidine nucleobase metabolic process' SubClassOf 'nucleobase-containing small molecule metabolic process' 'pyrimidine nucleobase metabolic process' SubClassOf 'organonitrogen compound metabolic process' 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 'developmental anomaly of metabolic origin' 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' http://purl.obolibrary.org/obo/MONDO_0014749 tooth agenesis, selective, 7 'tooth agenesis, selective, 7' SubClassOf 'tooth agenesis' http://purl.obolibrary.org/obo/GO_0006281 DNA repair 'DNA repair' SubClassOf 'macromolecule metabolic process' 'DNA repair' SubClassOf 'response to stress' 'DNA repair' SubClassOf 'nucleobase-containing compound metabolic process' 'DNA repair' SubClassOf 'cellular response to stimulus' http://purl.obolibrary.org/obo/GO_0006289 nucleotide-excision repair 'nucleotide-excision repair' SubClassOf 'DNA repair' http://purl.obolibrary.org/obo/MONDO_0014578 congenital myasthenic syndrome 17 'congenital myasthenic syndrome 17' SubClassOf 'postsynaptic congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_0014587 congenital myasthenic syndrome 9 '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' http://purl.obolibrary.org/obo/GO_0080145 intracellular cysteine homeostasis 'intracellular cysteine homeostasis' SubClassOf 'homeostatic process' http://purl.obolibrary.org/obo/UBERON_0004449 cerebral artery 'cerebral artery' SubClassOf 'systemic artery' http://purl.obolibrary.org/obo/GO_0006119 oxidative phosphorylation 'oxidative phosphorylation' SubClassOf 'generation of precursor metabolites and energy' http://purl.obolibrary.org/obo/MONDO_0014615 trichothiodystrophy 2, photosensitive 'trichothiodystrophy 2, 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 'skin neoplasm' '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_0014621 Brugada syndrome 9 'Brugada syndrome 9' SubClassOf 'Brugada syndrome' http://purl.obolibrary.org/obo/GO_0006144 purine nucleobase metabolic process 'purine nucleobase metabolic process' SubClassOf 'nucleobase-containing small molecule metabolic process' 'purine nucleobase metabolic process' SubClassOf 'purine-containing compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0014636 combined oxidative phosphorylation defect type 25 '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' http://purl.obolibrary.org/obo/MONDO_0014646 Zimmermann-Laband syndrome 2 'Zimmermann-Laband syndrome 2' SubClassOf 'Zimmermann-Laband syndrome' http://purl.obolibrary.org/obo/MONDO_0014664 Joubert syndrome 23 'Joubert syndrome 23' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0700266 paraneoplastic cutaneous syndrome 'paraneoplastic cutaneous syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic cutaneous syndrome' EquivalentTo 'paraneoplastic syndrome' and ('disease has location' some 'integumental system') 'paraneoplastic cutaneous syndrome' SubClassOf 'integumentary system disease' http://purl.obolibrary.org/obo/MONDO_0700263 RNU7-1-related type 1 interferonopathy 'RNU7-1-related type 1 interferonopathy' SubClassOf 'hereditary disorder of connective tissue' '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 'hereditary disorder of connective tissue' '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 'hereditary disorder of connective tissue' 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 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0700255 paraneoplastic renal syndrome 'paraneoplastic renal syndrome' SubClassOf 'urinary system disease' 'paraneoplastic renal syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic renal syndrome' EquivalentTo 'paraneoplastic syndrome' and ('disease has location' some 'renal system') http://purl.obolibrary.org/obo/MONDO_0700252 parneoplastic endocrine syndrome 'parneoplastic endocrine syndrome' SubClassOf 'endocrine system disease' 'parneoplastic endocrine syndrome' SubClassOf 'paraneoplastic syndrome' 'parneoplastic endocrine syndrome' EquivalentTo 'paraneoplastic syndrome' and ('disease has location' some 'endocrine system') http://purl.obolibrary.org/obo/MONDO_0700254 paraneoplastic gastrointestinal syndrome 'paraneoplastic gastrointestinal syndrome' SubClassOf 'disease has location' some 'digestive system' 'paraneoplastic gastrointestinal syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic gastrointestinal syndrome' EquivalentTo 'paraneoplastic syndrome' and ('disease has location' some 'digestive system') http://purl.obolibrary.org/obo/MONDO_0700253 paraneoplastic hematological syndrome 'paraneoplastic hematological syndrome' SubClassOf 'paraneoplastic syndrome' 'paraneoplastic hematological syndrome' EquivalentTo 'paraneoplastic syndrome' and ('disease has location' some 'hematopoietic system') 'paraneoplastic hematological syndrome' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0014443 Bardet-Biedl syndrome 15 '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' http://purl.obolibrary.org/obo/GO_0070626 (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity '(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0006082 organic acid metabolic process 'organic acid metabolic process' SubClassOf 'organic substance metabolic process' 'organic acid metabolic process' SubClassOf 'cellular metabolic process' http://purl.obolibrary.org/obo/MONDO_0014451 focal segmental glomerulosclerosis 7 'focal segmental glomerulosclerosis 7' SubClassOf 'inherited focal segmental glomerulosclerosis' http://purl.obolibrary.org/obo/GO_0006090 pyruvate metabolic process 'pyruvate metabolic process' SubClassOf 'organic acid metabolic process' http://purl.obolibrary.org/obo/GO_0006091 generation of precursor metabolites and energy 'generation of precursor metabolites and energy' SubClassOf 'cellular metabolic process' http://purl.obolibrary.org/obo/GO_0006094 gluconeogenesis 'gluconeogenesis' SubClassOf 'glucose metabolic process' 'gluconeogenesis' SubClassOf 'organic substance biosynthetic process' http://purl.obolibrary.org/obo/GO_0006096 glycolytic process 'glycolytic process' SubClassOf 'pyruvate metabolic process' 'glycolytic process' SubClassOf 'carbohydrate metabolic process' 'glycolytic process' SubClassOf 'ATP metabolic process' 'glycolytic process' SubClassOf 'generation of precursor metabolites and energy' http://purl.obolibrary.org/obo/MONDO_0014466 Neu-Laxova syndrome 2 'Neu-Laxova syndrome 2' SubClassOf 'Neu-Laxova syndrome' http://purl.obolibrary.org/obo/GO_0006099 tricarboxylic acid cycle 'tricarboxylic acid cycle' SubClassOf 'primary metabolic process' http://purl.obolibrary.org/obo/GO_0031091 platelet alpha granule 'platelet alpha granule' SubClassOf 'part of' some 'endomembrane system' 'platelet alpha granule' SubClassOf 'cytoplasmic vesicle' http://purl.obolibrary.org/obo/GO_0055078 sodium ion homeostasis 'sodium ion homeostasis' SubClassOf 'homeostatic process' http://purl.obolibrary.org/obo/UBERON_0004367 Descemet's membrane 'Descemet's membrane' SubClassOf 'anatomical structure' 'Descemet's membrane' SubClassOf 'part of' some 'cornea' 'Descemet's membrane' SubClassOf 'part of' some 'anatomical structure' 'Descemet's membrane' DisjointWith 'anterior limiting lamina of cornea' 'Descemet's membrane' SubClassOf 'part of' some 'epithelium' http://purl.obolibrary.org/obo/UBERON_0004370 anterior limiting lamina of cornea 'anterior limiting lamina of cornea' SubClassOf 'part of' some 'epithelium' 'anterior limiting lamina of cornea' SubClassOf 'part of' some 'cornea' 'Descemet's membrane' DisjointWith 'anterior limiting lamina of cornea' 'anterior limiting lamina of cornea' SubClassOf 'anatomical structure' 'anterior limiting lamina of cornea' SubClassOf 'part of' some 'anatomical structure' http://purl.obolibrary.org/obo/GO_0006000 fructose metabolic process 'fructose metabolic process' SubClassOf 'carbohydrate metabolic process' http://purl.obolibrary.org/obo/GO_0006006 glucose metabolic process 'glucose metabolic process' SubClassOf 'carbohydrate metabolic process' http://purl.obolibrary.org/obo/GO_0006012 galactose metabolic process 'galactose metabolic process' SubClassOf 'carbohydrate metabolic process' http://purl.obolibrary.org/obo/MONDO_0014504 Perrault syndrome 5 'Perrault syndrome 5' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0014539 focal segmental glomerulosclerosis 9 'focal segmental glomerulosclerosis 9' SubClassOf 'inherited focal segmental glomerulosclerosis' 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 'neonatal-onset developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0700130 partial segmental duplication 'partial segmental duplication' SubClassOf 'syndrome caused by partial chromosomal duplication' 'partial segmental duplication' SubClassOf 'Down syndrome' http://purl.obolibrary.org/obo/UBERON_0003723 vestibular nerve 'vestibular nerve' SubClassOf 'nerve' 'vestibular nerve' SubClassOf 'part of' some 'head' 'vestibular nerve' SubClassOf 'part of' some 'vestibulocochlear nerve' http://purl.obolibrary.org/obo/MONDO_0010807 autosomal recessive nonsyndromic hearing loss 2 'autosomal recessive nonsyndromic hearing loss 2' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0010818 retinitis pigmentosa 12 'retinitis pigmentosa 12' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0009837 choroid plexus papilloma 'choroid plexus papilloma' SubClassOf 'papilloma' 'choroid plexus papilloma' SubClassOf 'hereditary neurological disease' 'choroid plexus papilloma' SubClassOf 'benign choroid plexus neoplasm' 'choroid plexus papilloma' EquivalentTo 'papilloma' and ('disease has location' some 'choroid plexus') http://purl.obolibrary.org/obo/MONDO_0009847 pericardial effusion, chronic 'pericardial effusion, chronic' SubClassOf 'cardiogenetic disease' 'pericardial effusion, chronic' SubClassOf 'pericardial effusion' 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' http://purl.obolibrary.org/obo/MONDO_8000004 salmonella discitis 'salmonella discitis' SubClassOf 'salmonellosis' 'salmonella discitis' SubClassOf 'infectious arthritis' 'salmonella discitis' SubClassOf 'discitis' http://purl.obolibrary.org/obo/MONDO_8000003 streptococcus pneumoniae discitis 'streptococcus pneumoniae discitis' SubClassOf 'pneumococcal infection' 'streptococcus pneumoniae discitis' SubClassOf 'discitis' 'streptococcus pneumoniae discitis' SubClassOf 'infectious arthritis' http://purl.obolibrary.org/obo/MONDO_8000005 fungal discitis 'fungal discitis' SubClassOf 'fungal infectious disease' 'fungal discitis' SubClassOf 'discitis' http://purl.obolibrary.org/obo/MONDO_8000002 escherichia coli discitis 'escherichia coli discitis' SubClassOf 'infectious arthritis' 'escherichia coli discitis' SubClassOf 'Escherichia coli Infections' 'escherichia coli discitis' SubClassOf 'discitis' http://purl.obolibrary.org/obo/MONDO_8000001 staphylococcus discitis 'staphylococcus discitis' SubClassOf 'infectious arthritis' 'staphylococcus discitis' SubClassOf 'discitis' 'staphylococcus discitis' SubClassOf 'Staphylococcus aureus infection' http://purl.obolibrary.org/obo/MONDO_0044213 acute idiopathic urticaria 'acute idiopathic urticaria' SubClassOf 'idiopathic urticaria' 'acute idiopathic urticaria' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0044212 chronic idiopathic urticaria 'chronic idiopathic urticaria' SubClassOf 'idiopathic urticaria' http://purl.obolibrary.org/obo/HP_0003027 Mesomelia 'Mesomelia' SubClassOf 'Limb undergrowth' http://purl.obolibrary.org/obo/HP_0003077 Hyperlipidemia 'Hyperlipidemia' SubClassOf 'Abnormal circulating lipid concentration' http://purl.obolibrary.org/obo/UBERON_0003668 synovial bursa 'synovial bursa' SubClassOf 'anatomical structure' 'synovial bursa' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0003608 hindlimb long bone 'hindlimb long bone' SubClassOf 'long bone' 'hindlimb long bone' SubClassOf 'part of' some 'limb' 'hindlimb long bone' SubClassOf 'hindlimb bone' 'hindlimb long bone' EquivalentTo 'long bone' and ('part of' some 'hindlimb') 'hindlimb long bone' SubClassOf 'part of' some 'hindlimb' http://purl.obolibrary.org/obo/GO_0033490 cholesterol biosynthetic process via lathosterol 'cholesterol biosynthetic process via lathosterol' SubClassOf 'cholesterol biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0009715 myotonia congenita, autosomal recessive 'myotonia congenita, autosomal recessive' SubClassOf 'hereditary neuromuscular disease' 'myotonia congenita, autosomal recessive' SubClassOf 'Thomsen and Becker disease' 'myotonia congenita, autosomal recessive' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010706 premature ovarian failure 1 'premature ovarian failure 1' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0009736 Neu-Laxova syndrome 1 'Neu-Laxova syndrome 1' SubClassOf 'Neu-Laxova syndrome' http://purl.obolibrary.org/obo/MONDO_0009733 nephrotic syndrome, type 4 'nephrotic syndrome, type 4' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/UBERON_0003689 sella turcica 'sella turcica' SubClassOf 'part of' some 'bone element' 'sella turcica' SubClassOf 'skeleton structure' 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 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0010741 tooth agenesis, selective, X-linked, 1 'tooth agenesis, selective, X-linked, 1' SubClassOf 'tooth agenesis' http://purl.obolibrary.org/obo/MONDO_0009768 oculodentodigital dysplasia, autosomal recessive 'oculodentodigital dysplasia, autosomal recessive' SubClassOf 'autosomal recessive disease' 'oculodentodigital dysplasia, autosomal recessive' SubClassOf 'oculodentodigital dysplasia' http://purl.obolibrary.org/obo/MONDO_0010768 gonadoblastoma 'gonadoblastoma' SubClassOf 'reproductive system cancer' 'gonadoblastoma' SubClassOf 'mixed germ cell-sex cord-stromal tumor' 'gonadoblastoma' EquivalentTo 'blastoma' and ('disease has location' some 'gonad') 'gonadoblastoma' SubClassOf 'sex cord-stromal tumor' 'gonadoblastoma' SubClassOf 'gonadal disorder' 'gonadoblastoma' SubClassOf 'blastoma' 'gonadoblastoma' SubClassOf 'Malignant Mixed Neoplasm' 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' http://purl.obolibrary.org/obo/MONDO_0020113 primary acquired red cell aplasia 'primary acquired red cell aplasia' SubClassOf 'aplastic anemia' http://purl.obolibrary.org/obo/UBERON_0003706 laryngeal vocal fold 'laryngeal vocal fold' SubClassOf 'vocal organ' 'laryngeal vocal fold' SubClassOf 'part of' some 'glottis' http://purl.obolibrary.org/obo/UBERON_0003704 intrahepatic bile duct 'intrahepatic bile duct' SubClassOf 'bile duct' 'intrahepatic bile duct' EquivalentTo 'bile duct' and ('part of' some 'liver') 'intrahepatic bile duct' SubClassOf 'part of' some 'liver' http://purl.obolibrary.org/obo/UBERON_0003703 extrahepatic bile duct 'extrahepatic bile duct' SubClassOf 'bile duct' http://purl.obolibrary.org/obo/UBERON_0003712 cavernous sinus 'cavernous sinus' SubClassOf 'part of' some 'meningeal cluster' 'cavernous sinus' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/GO_0008456 alpha-N-acetylgalactosaminidase activity 'alpha-N-acetylgalactosaminidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0008480 sarcosine dehydrogenase activity 'sarcosine dehydrogenase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0008482 sulfite oxidase activity 'sulfite oxidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/UBERON_0003547 brain meninx 'brain meninx' EquivalentTo 'meninx' and ('part of' some 'brain') 'brain meninx' SubClassOf 'part of' some 'brain' 'brain meninx' SubClassOf 'meninx' http://purl.obolibrary.org/obo/HP_0003307 Hyperlordosis 'Hyperlordosis' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0003249 Genital ulcers 'Genital ulcers' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/GO_0047865 dimethylglycine dehydrogenase activity 'dimethylglycine dehydrogenase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0033280 response to vitamin D 'response to vitamin D' SubClassOf 'response to vitamin' http://purl.obolibrary.org/obo/MONDO_0010544 cataract 40 'cataract 40' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/HP_0003187 Breast hypoplasia 'Breast hypoplasia' SubClassOf 'Aplasia/Hypoplasia of the breasts' http://purl.obolibrary.org/obo/MONDO_0009572 autosomal recessive familial Mediterranean fever 'autosomal recessive familial Mediterranean fever' SubClassOf 'autosomal recessive disease' 'autosomal recessive familial Mediterranean fever' SubClassOf 'familial Mediterranean fever' http://purl.obolibrary.org/obo/MONDO_0010566 X-linked cone-rod dystrophy 1 'X-linked cone-rod dystrophy 1' SubClassOf 'RPGR-related retinopathy' 'X-linked cone-rod dystrophy 1' SubClassOf 'X-linked cone-rod dystrophy' http://purl.obolibrary.org/obo/HP_0003128 Lactic acidosis 'Lactic acidosis' SubClassOf 'Acidosis' http://purl.obolibrary.org/obo/HP_0003125 Reduced factor VIII activity 'Reduced factor VIII activity' SubClassOf 'Abnormality of coagulation' http://purl.obolibrary.org/obo/MONDO_0010583 Dyggve-Melchior-Clausen syndrome, X-linked 'Dyggve-Melchior-Clausen syndrome, X-linked' SubClassOf 'X-linked disease' 'Dyggve-Melchior-Clausen syndrome, X-linked' SubClassOf 'Dyggve-Melchior-Clausen disease' http://purl.obolibrary.org/obo/MONDO_0010588 exudative vitreoretinopathy 2, X-linked 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'X-linked disease' 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'exudative vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_0010587 epidermodysplasia verruciformis, X-linked 'epidermodysplasia verruciformis, X-linked' SubClassOf 'X-linked disease' 'epidermodysplasia verruciformis, X-linked' SubClassOf 'epidermodysplasia verruciformis' 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' http://purl.obolibrary.org/obo/GO_0008203 cholesterol metabolic process 'cholesterol metabolic process' SubClassOf 'sterol metabolic process' http://purl.obolibrary.org/obo/HP_0003198 Myopathy 'Myopathy' SubClassOf 'Abnormal skeletal muscle morphology' http://purl.obolibrary.org/obo/GO_0008240 tripeptidyl-peptidase activity 'tripeptidyl-peptidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/HP_0003552 Muscle stiffness 'Muscle stiffness' SubClassOf 'Abnormal muscle physiology' http://purl.obolibrary.org/obo/HP_0003560 Muscular dystrophy 'Muscular dystrophy' SubClassOf 'Abnormal skeletal muscle morphology' http://purl.obolibrary.org/obo/HP_0003577 Congenital onset 'Congenital onset' SubClassOf 'Onset' http://purl.obolibrary.org/obo/HP_0003581 Adult onset 'Adult onset' SubClassOf 'Onset' http://purl.obolibrary.org/obo/MONDO_0009433 hypoplastic left heart syndrome 1 'hypoplastic left heart syndrome 1' SubClassOf 'hypoplastic left heart syndrome' http://purl.obolibrary.org/obo/MONDO_0010431 Joubert syndrome 10 'Joubert syndrome 10' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0010447 intellectual disability, X-linked 19 'intellectual disability, X-linked 19' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/HP_0003473 Fatigable weakness 'Fatigable weakness' SubClassOf 'Muscle weakness' 'Fatigable weakness' SubClassOf 'Abnormal nervous system physiology' 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' http://purl.obolibrary.org/obo/MONDO_0010487 intellectual disability, X-linked 99 'intellectual disability, X-linked 99' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/GO_0008119 thiopurine S-methyltransferase activity 'thiopurine S-methyltransferase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0047708 biotinidase activity 'biotinidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0008015 blood circulation 'blood circulation' SubClassOf 'system process' http://purl.obolibrary.org/obo/GO_0008080 N-acetyltransferase activity 'N-acetyltransferase activity' SubClassOf 'catalytic activity' 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' http://purl.obolibrary.org/obo/MONDO_0000928 eyelid melanoma 'eyelid melanoma' SubClassOf 'eyelid cancer' 'eyelid melanoma' SubClassOf 'Ocular Melanoma' 'eyelid melanoma' EquivalentTo 'melanoma' and ('disease has location' some 'eyelid') 'eyelid melanoma' SubClassOf 'cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0000934 laryngeal leiomyoma 'laryngeal leiomyoma' SubClassOf 'leiomyoma' 'laryngeal leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'larynx') 'laryngeal leiomyoma' SubClassOf 'benign laryngeal neoplasm' http://purl.obolibrary.org/obo/MONDO_0000938 gastric leiomyoma 'gastric leiomyoma' SubClassOf 'leiomyoma' 'gastric leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'stomach') 'gastric leiomyoma' SubClassOf 'benign neoplasm of stomach' http://purl.obolibrary.org/obo/MONDO_0000937 syphilitic encephalitis 'syphilitic encephalitis' SubClassOf 'Treponema infectious disease' 'syphilitic encephalitis' SubClassOf 'infectious encephalitis' http://purl.obolibrary.org/obo/MONDO_0000936 syphilitic meningitis 'syphilitic meningitis' SubClassOf 'bacterial meningitis caused by gram-negative bacteria' 'syphilitic meningitis' SubClassOf 'Treponema infectious disease' http://purl.obolibrary.org/obo/MONDO_0000935 larynx squamous papilloma 'larynx squamous papilloma' EquivalentTo 'squamous papilloma' and ('disease has location' some 'larynx') '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' EquivalentTo 'neurodegenerative disease' and ('disease has location' some 'eyelid') 'eyelid degenerative disorder' SubClassOf 'eye degenerative disorder' 'eyelid degenerative disorder' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0000947 psychosexual disorder 'psychosexual disorder' DisjointWith 'physiological sexual disorder' 'psychosexual disorder' SubClassOf 'sexual and gender identity disorders' 'psychosexual disorder' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/MONDO_0000955 ileum cancer 'ileum cancer' EquivalentTo 'cancer' and ('disease has location' some 'ileum') 'ileum cancer' SubClassOf 'ileal neoplasm' 'ileum cancer' SubClassOf 'small intestine cancer' http://purl.obolibrary.org/obo/MONDO_0000963 esophageal lipoma 'esophageal lipoma' SubClassOf 'benign neoplasm of esophagus' 'esophageal lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'esophagus') 'esophageal lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0000965 liver lipoma 'liver lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'liver') 'liver lipoma' SubClassOf 'hepatobiliary benign neoplasm' 'liver lipoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'liver lipoma' SubClassOf 'benign endocrine 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' EquivalentTo 'lipoma' and ('disease has location' some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0000969 pleural lipoma 'pleural lipoma' SubClassOf 'benign neoplasm of pleura' 'pleural lipoma' EquivalentTo 'lipoma' and ('disease has location' some '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' EquivalentTo 'lipoma' and ('disease has location' some 'kidney') http://purl.obolibrary.org/obo/MONDO_0000970 breast lipoma 'breast lipoma' SubClassOf 'lipoma' 'breast lipoma' SubClassOf 'breast benign neoplasm' 'breast lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'breast') http://purl.obolibrary.org/obo/MONDO_0000973 external ear lipoma 'external ear lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'external ear') '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 'liver lipoma' 'gallbladder lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'gallbladder') http://purl.obolibrary.org/obo/MONDO_0009300 Perrault syndrome 1 'Perrault syndrome 1' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0000978 extrahepatic bile duct lipoma 'extrahepatic bile duct lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'extrahepatic bile duct') 'extrahepatic bile duct lipoma' SubClassOf 'extrahepatic bile duct neoplasm' 'extrahepatic bile duct lipoma' SubClassOf 'liver lipoma' http://purl.obolibrary.org/obo/MONDO_0000981 Histoplasma pericarditis 'Histoplasma pericarditis' SubClassOf 'histoplasmosis' 'Histoplasma pericarditis' SubClassOf 'pericarditis' http://purl.obolibrary.org/obo/MONDO_0000980 aortic atherosclerosis 'aortic atherosclerosis' EquivalentTo 'atherosclerosis' and ('disease has location' some 'aorta') 'aortic atherosclerosis' SubClassOf 'aortic disease' 'aortic atherosclerosis' SubClassOf 'atherosclerosis' http://purl.obolibrary.org/obo/MONDO_0000996 prostate lymphoma 'prostate lymphoma' SubClassOf 'prostate cancer' 'prostate lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'prostate gland') 'prostate lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0000993 prostate squamous cell carcinoma 'prostate squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'prostate squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'prostate gland') 'prostate squamous cell carcinoma' SubClassOf 'prostate carcinoma' http://purl.obolibrary.org/obo/MONDO_0009330 hemangiopericytoma, malignant 'hemangiopericytoma, malignant' SubClassOf 'hemangiopericytoma' 'hemangiopericytoma, malignant' SubClassOf 'solitary fibrous tumor' http://purl.obolibrary.org/obo/MONDO_0010320 retinitis pigmentosa 23 'retinitis pigmentosa 23' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/HP_0003355 Aminoaciduria 'Aminoaciduria' SubClassOf 'Abnormality of urine homeostasis' http://purl.obolibrary.org/obo/HP_0003351 Decreased circulating renin level 'Decreased circulating renin level' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/MONDO_0010335 X-linked cone-rod dystrophy 3 'X-linked cone-rod dystrophy 3' SubClassOf 'X-linked cone-rod dystrophy' 'X-linked cone-rod dystrophy 3' SubClassOf 'CACNA1F-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0009356 autosomal recessive humeroradial synostosis 'autosomal recessive humeroradial synostosis' SubClassOf 'autosomal recessive disease' 'autosomal recessive humeroradial synostosis' SubClassOf 'humeroradial synostosis' http://purl.obolibrary.org/obo/MONDO_0010342 autism, susceptibility to, X-linked 3 'autism, susceptibility to, X-linked 3' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0010358 hypophosphatemic rickets, X-linked recessive 'hypophosphatemic rickets, X-linked recessive' SubClassOf 'X-linked hypophosphatemic rickets' 'hypophosphatemic rickets, X-linked recessive' SubClassOf 'abnormal mineralization disorder' 'hypophosphatemic rickets, X-linked recessive' SubClassOf 'X-linked recessive disease' 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 'CDKL5 disorder' 'developmental and epileptic encephalopathy, 2' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/GO_0047598 7-dehydrocholesterol reductase activity '7-dehydrocholesterol reductase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0009227 myofibromatosis, infantile, 1 'myofibromatosis, infantile, 1' SubClassOf 'infantile myofibromatosis' http://purl.obolibrary.org/obo/MONDO_0009226 fibrochondrogenesis 1 'fibrochondrogenesis 1' SubClassOf 'fibrochondrogenesis' http://purl.obolibrary.org/obo/MONDO_0024868 metastatic carcinoma in the adrenal medulla 'metastatic carcinoma in the adrenal medulla' SubClassOf 'adrenal medulla carcinoma' 'metastatic carcinoma in the adrenal medulla' SubClassOf 'metastatic carcinoma' 'metastatic carcinoma in the adrenal medulla' EquivalentTo 'metastatic carcinoma' and ('disease has location' some 'adrenal medulla') 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' http://purl.obolibrary.org/obo/MONDO_0024884 metastatic carcinoma in the bone 'metastatic carcinoma in the bone' EquivalentTo 'metastatic carcinoma' and ('disease has location' some 'bone tissue') 'metastatic carcinoma in the bone' SubClassOf 'metastatic carcinoma' 'metastatic carcinoma in the bone' SubClassOf 'disease arises from feature' some 'bone carcinoma' 'metastatic carcinoma in the bone' SubClassOf 'bone carcinoma' http://purl.obolibrary.org/obo/MONDO_0024888 mesonephric neoplasm 'mesonephric neoplasm' SubClassOf 'epithelial neoplasm' 'mesonephric neoplasm' SubClassOf 'disease has location' some 'mesonephric duct' 'mesonephric neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'mesonephric duct') 'mesonephric neoplasm' SubClassOf 'kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0024889 benign mesonephroma 'benign mesonephroma' SubClassOf 'kidney benign neoplasm' 'benign mesonephroma' SubClassOf 'mesonephric neoplasm' 'benign mesonephroma' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0010282 mycobacterium tuberculosis, susceptibility to, X-linked 'mycobacterium tuberculosis, susceptibility to, X-linked' SubClassOf 'mycobacterium tuberculosis, susceptibility' http://purl.obolibrary.org/obo/MONDO_0010297 FG syndrome 2 'FG syndrome 2' SubClassOf 'fg syndrome' http://purl.obolibrary.org/obo/HP_0003621 Juvenile onset 'Juvenile onset' SubClassOf 'Pediatric onset' http://purl.obolibrary.org/obo/UBERON_0013229 eyelid gland 'eyelid gland' SubClassOf 'part of' some 'ocular adnexa' 'eyelid gland' SubClassOf 'part of' some 'orbital region' 'eyelid gland' SubClassOf 'part of' some 'eye' 'eyelid gland' SubClassOf 'gland' 'eyelid gland' EquivalentTo 'gland' and ('part of' some 'eyelid') 'eyelid gland' SubClassOf 'part of' some 'eyelid' http://purl.obolibrary.org/obo/HP_0003623 Neonatal onset 'Neonatal onset' SubClassOf 'Onset' http://purl.obolibrary.org/obo/GO_0047453 ATP-dependent NAD(P)H-hydrate dehydratase activity 'ATP-dependent NAD(P)H-hydrate dehydratase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0000708 Crohn jejunoileitis 'Crohn jejunoileitis' SubClassOf 'Crohn jejunitis' 'Crohn jejunoileitis' EquivalentTo 'Crohn's disease' and ('disease has inflammation site' some 'jejunum') and ('disease has inflammation site' some 'ileum') 'Crohn jejunoileitis' SubClassOf 'Crohn ileitis' http://purl.obolibrary.org/obo/MONDO_0000710 gastroduodenal Crohn disease 'gastroduodenal Crohn disease' SubClassOf 'duodenitis' 'gastroduodenal Crohn disease' SubClassOf 'gastritis' 'gastroduodenal Crohn disease' SubClassOf 'small bowel Crohn's disease' 'gastroduodenal Crohn disease' EquivalentTo 'Crohn's disease' and ('disease has inflammation site' some 'stomach') and ('disease has inflammation site' some 'duodenum') http://purl.obolibrary.org/obo/MONDO_0000715 lymph node adenoid cystic carcinoma 'lymph node adenoid cystic carcinoma' EquivalentTo 'adenoid cystic carcinoma' and ('disease has location' some 'lymph node') 'lymph node adenoid cystic carcinoma' SubClassOf 'lymph node cancer' 'lymph node adenoid cystic carcinoma' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/GO_0072359 circulatory system development 'circulatory system development' SubClassOf 'system development' http://purl.obolibrary.org/obo/HP_0003593 Infantile onset 'Infantile onset' SubClassOf 'Pediatric onset' http://purl.obolibrary.org/obo/MONDO_0000774 autoimmune neuropathy 'autoimmune neuropathy' EquivalentTo 'peripheral neuropathy' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune neuropathy' SubClassOf 'autoimmune disorder of peripheral nervous system' 'autoimmune neuropathy' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0000777 gastrointestinal allergy 'gastrointestinal allergy' SubClassOf 'disease has location' some 'digestive tract' 'gastrointestinal allergy' SubClassOf 'allergic disease' 'gastrointestinal allergy' EquivalentTo 'allergic disease' and ('disease has location' some 'digestive tract') http://purl.obolibrary.org/obo/MONDO_0024744 childhood choroid plexus neoplasm 'childhood choroid plexus neoplasm' SubClassOf 'choroid plexus neoplasm' 'childhood choroid plexus neoplasm' SubClassOf 'childhood neoplasm' http://purl.obolibrary.org/obo/MONDO_0024797 adult brain stem neoplasm 'adult brain stem neoplasm' SubClassOf 'brain stem neoplasm' http://purl.obolibrary.org/obo/MONDO_0009154 hypothyroidism, congenital, nongoitrous, 5 'hypothyroidism, congenital, nongoitrous, 5' SubClassOf 'hypothyroidism, congenital, nongoitrous' 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' http://purl.obolibrary.org/obo/UBERON_0003902 retinal neural layer 'retinal neural layer' SubClassOf 'part of' some 'nervous system' 'retinal neural layer' SubClassOf 'anatomical structure' 'retinal neural layer' SubClassOf 'part of' some 'retina' http://purl.obolibrary.org/obo/UBERON_0003911 choroid plexus epithelium 'choroid plexus epithelium' SubClassOf 'epithelium' 'choroid plexus epithelium' EquivalentTo 'epithelium' and ('part of' some 'choroid plexus') 'choroid plexus epithelium' SubClassOf 'part of' some 'choroid plexus' http://purl.obolibrary.org/obo/MONDO_0010190 pontocerebellar hypoplasia type 2A 'pontocerebellar hypoplasia type 2A' SubClassOf 'pontocerebellar hypoplasia type 2' http://purl.obolibrary.org/obo/MONDO_0010192 Waardenburg syndrome type 4A 'Waardenburg syndrome type 4A' SubClassOf 'Waardenburg-Shah syndrome' http://purl.obolibrary.org/obo/CL_0000731 urothelial cell 'urothelial cell' SubClassOf 'transitional epithelial cell' http://purl.obolibrary.org/obo/GO_0047291 lactosylceramide alpha-2,3-sialyltransferase activity 'lactosylceramide alpha-2,3-sialyltransferase activity' SubClassOf 'catalytic activity' 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' http://purl.obolibrary.org/obo/MONDO_0044906 bladder urothelial papilloma 'bladder urothelial papilloma' SubClassOf 'bladder benign neoplasm' 'bladder urothelial papilloma' EquivalentTo 'urothelial papilloma' and ('disease has location' some 'urinary bladder') 'bladder urothelial papilloma' SubClassOf 'non-invasive bladder papillary urothelial neoplasm' 'bladder urothelial papilloma' SubClassOf 'urothelial papilloma' 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' EquivalentTo 'metastatic malignant neoplasm' and ('disease has location' some 'eyeball of camera-type eye') 'metastatic malignant neoplasm in the eye' SubClassOf 'metastatic malignant neoplasm' http://purl.obolibrary.org/obo/MONDO_0044912 metastatic malignant neoplasm in the spinal cord 'metastatic malignant neoplasm in the spinal cord' EquivalentTo 'metastatic malignant neoplasm' and ('disease has location' some 'spinal cord') 'metastatic malignant neoplasm in the spinal cord' SubClassOf 'metastatic malignant neoplasm' 'metastatic malignant neoplasm in the spinal cord' SubClassOf 'spinal cord cancer' 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' EquivalentTo 'fungal infectious disease' and ('disease has location' some 'eye') http://purl.obolibrary.org/obo/MONDO_0019963 bronchial endocrine tumor 'bronchial endocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'bronchial endocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('disease has location' some 'bronchus') 'bronchial endocrine tumor' SubClassOf 'bronchial neoplasm' http://purl.obolibrary.org/obo/HP_0410280 Pediatric onset 'Pediatric onset' SubClassOf 'Onset' http://purl.obolibrary.org/obo/MONDO_0020971 gonococcal urethritis 'gonococcal urethritis' SubClassOf 'gonorrhea' 'gonococcal urethritis' SubClassOf 'urethritis' http://purl.obolibrary.org/obo/MONDO_0044956 paranasal sinus mucoepidermoid carcinoma 'paranasal sinus mucoepidermoid carcinoma' SubClassOf 'paranasal sinus carcinoma' 'paranasal sinus mucoepidermoid carcinoma' EquivalentTo 'mucoepidermoid carcinoma' and ('disease has location' some 'paranasal sinus') 'paranasal sinus mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://purl.obolibrary.org/obo/MONDO_0019985 drug-related renal tubular dysgenesis 'drug-related renal tubular dysgenesis' SubClassOf 'renal tubular dysgenesis' http://purl.obolibrary.org/obo/UBERON_0013768 great vessel of heart 'great vessel of heart' SubClassOf 'blood vessel' http://purl.obolibrary.org/obo/MONDO_0020801 rectal medullary carcinoma 'rectal medullary carcinoma' EquivalentTo 'colorectal medullary carcinoma' and ('disease has location' some 'rectum') 'rectal medullary carcinoma' SubClassOf 'rectal adenocarcinoma' 'rectal medullary carcinoma' SubClassOf 'colorectal medullary carcinoma' http://purl.obolibrary.org/obo/MONDO_0020805 benign basal cell neoplasm 'benign basal cell neoplasm' SubClassOf 'benign epithelial neoplasm' 'benign basal cell neoplasm' SubClassOf 'basal cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0019838 adenohypophysitis 'adenohypophysitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'adenohypophysis') 'adenohypophysitis' SubClassOf 'anterior pituitary gland disorder' 'adenohypophysitis' SubClassOf 'primary hypophysitis' 'adenohypophysitis' SubClassOf 'disease has inflammation site' some 'adenohypophysis' 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 'neuroinflammatory disorder' 'primary hypophysitis' SubClassOf 'hypophysitis' http://purl.obolibrary.org/obo/MONDO_0020830 diaphragmitis 'diaphragmitis' SubClassOf 'inflammatory disease' 'diaphragmitis' SubClassOf 'disease has inflammation site' some 'diaphragm' 'diaphragmitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'diaphragm') 'diaphragmitis' SubClassOf 'diaphragm disease' http://purl.obolibrary.org/obo/MONDO_0020860 faucial diphtheria 'faucial diphtheria' SubClassOf 'disease has location' some 'throat' 'faucial diphtheria' EquivalentTo 'diphtheria' and ('disease has location' some 'throat') 'faucial diphtheria' SubClassOf 'diphtheria' http://purl.obolibrary.org/obo/MONDO_0020866 nasopharyngeal diphtheria 'nasopharyngeal diphtheria' SubClassOf 'nasopharyngeal disorder' 'nasopharyngeal diphtheria' EquivalentTo 'diphtheria' and ('disease has location' some 'nasopharynx') 'nasopharyngeal diphtheria' SubClassOf 'respiratory tract infectious disorder' 'nasopharyngeal diphtheria' SubClassOf 'diphtheria' http://purl.obolibrary.org/obo/MONDO_0020863 laryngeal diphtheria 'laryngeal diphtheria' SubClassOf 'diphtheria' 'laryngeal diphtheria' SubClassOf 'respiratory tract infectious disorder' 'laryngeal diphtheria' EquivalentTo 'diphtheria' and ('disease has location' some 'larynx') 'laryngeal diphtheria' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0044878 adult germ cell tumor 'adult germ cell tumor' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/GO_0047045 testosterone 17-beta-dehydrogenase (NADP+) activity 'testosterone 17-beta-dehydrogenase (NADP+) activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0044884 tonsillar lymphoma 'tonsillar lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'tonsil') 'tonsillar lymphoma' SubClassOf 'MALT lymphoma' 'tonsillar lymphoma' SubClassOf 'tonsil cancer' 'tonsillar lymphoma' SubClassOf 'hereditary otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0044885 tonsillar lipoma 'tonsillar lipoma' SubClassOf 'benign neoplasm of tonsil' 'tonsillar lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'tonsil') 'tonsillar lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/CHEBI_30411 cobalamin 'cobalamin' SubClassOf 'organic heterocyclic compound' http://purl.obolibrary.org/obo/MONDO_0020713 pulmonary venoocclusive disease 1 'pulmonary venoocclusive disease 1' SubClassOf 'pulmonary venoocclusive disease' http://purl.obolibrary.org/obo/MONDO_0020712 46,XY sex reversal 1 '46,XY sex reversal 1' SubClassOf '46,XY complete gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0019725 pediatric systemic lupus erythematosus 'pediatric systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0020707 central hearing loss 'central hearing loss' EquivalentTo 'hearing loss' and ('disease has basis in dysfunction of' some 'central nervous system') 'central hearing loss' SubClassOf 'hearing loss' 'central hearing loss' SubClassOf 'disease has basis in dysfunction of' some 'central nervous system' http://purl.obolibrary.org/obo/MONDO_0020730 carpal tunnel syndrome 1 'carpal tunnel syndrome 1' SubClassOf 'carpal tunnel syndrome' 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' 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' http://purl.obolibrary.org/obo/MONDO_0019752 pediatric Castleman disease 'pediatric Castleman disease' SubClassOf 'Castleman disease' http://purl.obolibrary.org/obo/GO_0023035 CD40 signaling pathway 'CD40 signaling pathway' SubClassOf 'signal transduction' http://purl.obolibrary.org/obo/MONDO_0044742 autosomal recessive epidermolytic ichthyosis 'autosomal recessive epidermolytic ichthyosis' SubClassOf 'epidermolytic ichthyosis' 'autosomal recessive epidermolytic ichthyosis' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0044796 spindle cell nevus 'spindle cell nevus' SubClassOf 'spindle cell tumor' 'spindle cell nevus' SubClassOf 'spitz nevus' http://purl.obolibrary.org/obo/MONDO_0044764 benign choroid plexus neoplasm 'benign choroid plexus neoplasm' SubClassOf 'neurovascular disorder' 'benign choroid plexus neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'choroid plexus') 'benign choroid plexus neoplasm' SubClassOf 'vascular neoplasm' 'benign choroid plexus neoplasm' SubClassOf 'disease has location' some 'choroid plexus' 'benign choroid plexus neoplasm' SubClassOf 'Benign Brain Neoplasm' 'benign choroid plexus neoplasm' SubClassOf 'choroid plexus neoplasm' 'benign choroid plexus neoplasm' SubClassOf 'cardiovascular organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0044767 childhood adrenal gland pheochromocytoma 'childhood adrenal gland pheochromocytoma' SubClassOf 'childhood neoplasm' 'childhood adrenal gland pheochromocytoma' SubClassOf 'adrenal gland pheochromocytoma' http://purl.obolibrary.org/obo/MONDO_0019612 functioning gonadotropic adenoma 'functioning gonadotropic adenoma' SubClassOf 'realized in' some 'gonadotropin secretion' 'functioning gonadotropic adenoma' SubClassOf 'functioning pituitary gland adenoma' 'functioning gonadotropic adenoma' EquivalentTo 'functioning pituitary gland adenoma' and ('realized in' some 'gonadotropin secretion') 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' http://purl.obolibrary.org/obo/MONDO_0020635 anaplastic meningioma 'anaplastic meningioma' SubClassOf 'anaplastic cancer' 'anaplastic meningioma' SubClassOf 'high grade malignant neoplasm' 'anaplastic meningioma' SubClassOf 'grade III meningioma' 'anaplastic meningioma' SubClassOf 'malignant tumor of meninges' http://purl.obolibrary.org/obo/CL_0000354 blastemal cell 'blastemal cell' SubClassOf 'multi fate stem cell' http://purl.obolibrary.org/obo/MONDO_0019643 transient pseudohypoaldosteronism 'transient pseudohypoaldosteronism' SubClassOf 'pseudohypoaldosteronism' 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' EquivalentTo 'mixed germ cell tumor' and ('disease has location' some 'mammalian vulva') 'mixed germ cell tumor of vulva' SubClassOf 'mixed germ cell tumor' 'mixed germ cell tumor of vulva' SubClassOf 'vulva cancer' http://purl.obolibrary.org/obo/MONDO_0020650 germ cell tumor of the vulva 'germ cell tumor of the vulva' SubClassOf 'vulvar neoplasm' 'germ cell tumor of the vulva' EquivalentTo 'germ cell tumor' and ('disease has location' some 'mammalian vulva') 'germ cell tumor of the vulva' SubClassOf 'germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0020658 infiltrating ureter transitional cell carcinoma 'infiltrating ureter transitional cell carcinoma' EquivalentTo 'infiltrating urothelial carcinoma' and ('disease has location' some 'ureter') 'infiltrating ureter transitional cell carcinoma' SubClassOf 'infiltrating renal pelvis/ureter urothelial carcinoma' 'infiltrating ureter transitional cell carcinoma' SubClassOf 'ureter transitional cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0020656 human papillomavirus-related penile squamous cell carcinoma 'human papillomavirus-related penile squamous cell carcinoma' EquivalentTo 'human papillomavirus-related squamous cell carcinoma' and ('disease has location' some '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_0020655 juvenile ankylosing spondylitis 'juvenile ankylosing spondylitis' SubClassOf 'ankylosing spondylitis' http://purl.obolibrary.org/obo/MONDO_0020640 autoimmune encephalitis 'autoimmune encephalitis' EquivalentTo 'encephalitis' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune encephalitis' SubClassOf 'encephalitis' 'autoimmune encephalitis' SubClassOf 'neuroinflammatory disorder' http://purl.obolibrary.org/obo/MONDO_0020646 ocular adnexal lymphoma 'ocular adnexal lymphoma' EquivalentTo 'non-Hodgkins lymphoma' and ('disease has location' some 'ocular adnexa') 'ocular adnexal lymphoma' SubClassOf 'eye lymphoma' 'ocular adnexal lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'ocular adnexal lymphoma' SubClassOf 'eye adnexa disease' http://purl.obolibrary.org/obo/MONDO_0020675 ischemic bowel disorder 'ischemic bowel disorder' EquivalentTo 'ischemic disease' and ('disease has location' some 'intestine') 'ischemic bowel disorder' SubClassOf 'intestinal disease' 'ischemic bowel disorder' SubClassOf 'ischemic disease' http://purl.obolibrary.org/obo/MONDO_0020679 conductive hearing loss disorder 'conductive hearing loss disorder' SubClassOf 'disease has basis in dysfunction of' some 'middle ear' 'conductive hearing loss disorder' SubClassOf 'hearing loss' 'conductive hearing loss disorder' EquivalentTo 'hearing loss' and ('disease has basis in dysfunction of' some 'middle ear') http://purl.obolibrary.org/obo/MONDO_0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 'Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis' SubClassOf 'Antley-Bixler syndrome' http://purl.obolibrary.org/obo/MONDO_0020690 adult glioblastoma 'adult glioblastoma' SubClassOf 'glioblastoma multiforme' 'adult glioblastoma' SubClassOf 'adult infiltrating astrocytic neoplasm' http://purl.obolibrary.org/obo/MONDO_0020686 acute tonsillitis 'acute tonsillitis' SubClassOf 'tonsillitis' 'acute tonsillitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0020680 acute bronchiolitis 'acute bronchiolitis' SubClassOf 'bronchiolitis' 'acute bronchiolitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0044699 SIN3A-related intellectual disability syndrome 'SIN3A-related intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'SIN3A-related intellectual disability syndrome' SubClassOf 'hereditary neurological disease' 'SIN3A-related intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'SIN3A-related intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019535 drug-induced autoimmune hemolytic anemia 'drug-induced autoimmune hemolytic anemia' SubClassOf 'Anemia, Hemolytic, Autoimmune' http://purl.obolibrary.org/obo/MONDO_0019544 cocaine intoxication 'cocaine intoxication' SubClassOf 'poisoning' 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 endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0020549 invasive hydatidiform mole 'invasive hydatidiform mole' SubClassOf 'gestational trophoblastic neoplasm' 'invasive hydatidiform mole' SubClassOf 'Hydatidiform Mole' http://purl.obolibrary.org/obo/MONDO_0020546 acute graft versus host disease 'acute graft versus host disease' SubClassOf 'acute disease' 'acute graft versus host disease' SubClassOf 'graft versus host disease' http://purl.obolibrary.org/obo/MONDO_0020576 cutaneous vasculitis 'cutaneous vasculitis' SubClassOf 'vasculitis' 'cutaneous vasculitis' SubClassOf 'dermatitis' 'cutaneous vasculitis' EquivalentTo 'vasculitis' and ('disease has inflammation site' some 'zone of skin') http://purl.obolibrary.org/obo/MONDO_0020577 childhood gonadal germ cell tumor 'childhood gonadal germ cell tumor' SubClassOf 'childhood germ cell tumor' 'childhood gonadal germ cell tumor' SubClassOf 'gonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0020597 angiokeratoma of scrotum 'angiokeratoma of scrotum' SubClassOf 'angiokeratoma of Fordyce' 'angiokeratoma of scrotum' SubClassOf 'scrotal hemangioma' 'angiokeratoma of scrotum' EquivalentTo 'angiokeratoma' and ('disease has location' some 'scrotum') http://purl.obolibrary.org/obo/MONDO_0020582 benign uterine ligament neoplasm 'benign uterine ligament neoplasm' SubClassOf 'uterine ligament neoplasm' 'benign uterine ligament neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'uterine ligament') 'benign uterine ligament neoplasm' SubClassOf 'cervical benign neoplasm' 'benign uterine ligament neoplasm' SubClassOf 'musculoskeletal system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0020581 benign PEComa 'benign PEComa' SubClassOf 'benign soft tissue neoplasm' 'benign PEComa' SubClassOf 'PEComa' http://purl.obolibrary.org/obo/MONDO_0020589 cardiac germ cell tumor 'cardiac germ cell tumor' EquivalentTo 'germ cell tumor' and ('disease has location' some 'heart') 'cardiac germ cell tumor' SubClassOf 'extragonadal germ cell tumor' 'cardiac germ cell tumor' SubClassOf 'Heart neoplasm' http://purl.obolibrary.org/obo/MONDO_1030001 epilepsy, juvenile absence, susceptibility to 'epilepsy, juvenile absence, susceptibility to' SubClassOf 'inherited disease susceptibility' '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' http://purl.obolibrary.org/obo/CL_0000570 parafollicular cell 'parafollicular cell' SubClassOf 'epithelial cell' 'parafollicular cell' SubClassOf 'secretory cell' http://purl.obolibrary.org/obo/CL_0000573 retinal cone cell 'retinal cone cell' SubClassOf 'photoreceptor cell' 'retinal cone cell' SubClassOf 'retinal cell' http://purl.obolibrary.org/obo/GO_0003943 N-acetylgalactosamine-4-sulfatase activity 'N-acetylgalactosamine-4-sulfatase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0003940 L-iduronidase activity 'L-iduronidase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0010909 UV-sensitive syndrome 1 'UV-sensitive syndrome 1' SubClassOf 'UV-sensitive syndrome' 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' 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' http://purl.obolibrary.org/obo/MONDO_0010929 craniosynostosis 4 'craniosynostosis 4' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0010943 schizophrenia 4 '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' http://purl.obolibrary.org/obo/MONDO_0009962 Senior-Loken syndrome 1 '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' 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 'pure red-cell aplasia' 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' EquivalentTo 'signet ring cell carcinoma' and ('disease has location' some 'large intestine') 'colorectal signet ring cell carcinoma' SubClassOf 'colorectal adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0044338 autoimmune primary ovarian failure 'autoimmune primary ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune primary ovarian failure' SubClassOf 'primary ovarian insufficiency' 'autoimmune primary ovarian failure' SubClassOf 'autoimmune disorder of endocrine system' http://purl.obolibrary.org/obo/GO_0003867 4-aminobutyrate transaminase activity '4-aminobutyrate transaminase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0003845 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity '11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/GO_0003824 catalytic activity 'catalytic activity' SubClassOf 'molecular_function' http://purl.obolibrary.org/obo/GO_0003810 protein-glutamine gamma-glutamyltransferase activity 'protein-glutamine gamma-glutamyltransferase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/MONDO_0001024 pneumonic plague 'pneumonic plague' SubClassOf 'lung disease' 'pneumonic plague' EquivalentTo 'Yersinia pestis infectious disease' and ('disease has location' some 'lung') 'pneumonic plague' SubClassOf 'Yersinia pestis infectious disease' 'pneumonic plague' SubClassOf 'respiratory tract infectious disorder' http://purl.obolibrary.org/obo/MONDO_0001028 acute pericementitis 'acute pericementitis' SubClassOf 'acute disease' 'acute pericementitis' SubClassOf 'periodontitis' http://purl.obolibrary.org/obo/MONDO_0001031 purulent acute otitis media 'purulent acute otitis media' SubClassOf 'suppurative otitis media' 'purulent acute otitis media' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0001042 patellar tendinitis 'patellar tendinitis' SubClassOf 'tendinitis' 'patellar tendinitis' SubClassOf 'disease has location' some 'patella' 'patellar tendinitis' EquivalentTo 'tendinitis' and ('disease has location' some 'patella') http://purl.obolibrary.org/obo/MONDO_0001052 chronic fungal otitis externa 'chronic fungal otitis externa' SubClassOf 'otomycosis' http://purl.obolibrary.org/obo/MONDO_0001051 acute otitis externa 'acute otitis externa' SubClassOf 'acute disease' 'acute otitis externa' SubClassOf 'otitis externa' http://purl.obolibrary.org/obo/MONDO_0015694 malignant melanoma of the mucosa 'malignant melanoma of the mucosa' SubClassOf 'disease has location' some 'mucosa' 'malignant melanoma of the mucosa' EquivalentTo 'melanoma' and ('disease has location' some 'mucosa') 'malignant melanoma of the mucosa' SubClassOf 'melanoma' 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' http://purl.obolibrary.org/obo/MONDO_0001064 acute eustachian salpingitis 'acute eustachian salpingitis' SubClassOf 'acute disease' 'acute eustachian salpingitis' SubClassOf 'otosalpingitis' http://purl.obolibrary.org/obo/MONDO_0040676 great vessel cancer 'great vessel cancer' SubClassOf 'vascular cancer' 'great vessel cancer' EquivalentTo 'cancer' and ('disease has location' some 'great vessel of heart') 'great vessel cancer' SubClassOf 'disease has location' some 'great vessel of heart' http://purl.obolibrary.org/obo/MONDO_0001074 chronic tic disorder 'chronic tic disorder' SubClassOf 'tic disorder' 'chronic tic disorder' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0001081 acute cervicitis 'acute cervicitis' SubClassOf 'cervicitis' 'acute cervicitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0001080 acute gonococcal cervicitis 'acute gonococcal cervicitis' SubClassOf 'gonococcal cervicitis' 'acute gonococcal cervicitis' SubClassOf 'acute cervicitis' http://purl.obolibrary.org/obo/MONDO_0040654 autosomal dominant oculocutaneous albinism 'autosomal dominant oculocutaneous albinism' SubClassOf 'oculocutaneous albinism' 'autosomal dominant oculocutaneous albinism' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0001090 acute anterolateral myocardial infarction 'acute anterolateral myocardial infarction' SubClassOf 'anterolateral 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 'epithelial tumor of colon' 'colonic lymphangioma' SubClassOf 'benign colon neoplasm' 'colonic lymphangioma' EquivalentTo 'lymphangioma' and ('disease has location' some 'colon') http://purl.obolibrary.org/obo/MONDO_0001092 colon leiomyoma 'colon leiomyoma' SubClassOf 'benign colon neoplasm' 'colon leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'colon') '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' EquivalentTo 'lipoma' and ('disease has location' some 'colon') http://purl.obolibrary.org/obo/MONDO_0001096 mediastinum ganglioneuroblastoma 'mediastinum ganglioneuroblastoma' EquivalentTo 'ganglioneuroblastoma' and ('disease has location' some 'mediastinum') 'mediastinum ganglioneuroblastoma' SubClassOf 'peripheral ganglioneuroblastoma' 'mediastinum ganglioneuroblastoma' SubClassOf 'Mediastinal Neuroblastoma' http://purl.obolibrary.org/obo/GO_0003723 RNA binding 'RNA binding' SubClassOf 'molecular_function' http://purl.obolibrary.org/obo/MONDO_0001108 broad ligament malignant neoplasm 'broad ligament malignant neoplasm' EquivalentTo 'cancer' and ('disease has location' some 'broad ligament of uterus') 'broad ligament malignant neoplasm' SubClassOf 'disorder of uterine broad ligament' 'broad ligament malignant neoplasm' SubClassOf 'musculoskeletal system cancer' 'broad ligament malignant neoplasm' SubClassOf 'uterine adnexa cancer' http://purl.obolibrary.org/obo/MONDO_0001112 bubonic plague 'bubonic plague' EquivalentTo 'Yersinia pestis infectious disease' and ('disease has location' some 'lymphatic part of lymphoid system') 'bubonic plague' SubClassOf 'Yersinia pestis infectious disease' 'bubonic plague' SubClassOf 'lymphatic system disease' http://purl.obolibrary.org/obo/MONDO_0001114 bacterial myocarditis 'bacterial myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/MONDO_0001123 chronic sphenoidal sinusitis 'chronic sphenoidal sinusitis' SubClassOf 'chronic rhinosinusitis' 'chronic sphenoidal sinusitis' SubClassOf 'sphenoid sinusitis' http://purl.obolibrary.org/obo/MONDO_0001122 chronic maxillary sinusitis 'chronic maxillary sinusitis' SubClassOf 'chronic rhinosinusitis' 'chronic maxillary sinusitis' SubClassOf 'maxillary sinusitis' http://purl.obolibrary.org/obo/MONDO_0001129 nasal cavity olfactory neuroblastoma 'nasal cavity olfactory neuroblastoma' EquivalentTo 'Olfactory Neuroblastoma' and ('disease has location' some 'nasal cavity') 'nasal cavity olfactory neuroblastoma' SubClassOf 'nasal cavity cancer' 'nasal cavity olfactory neuroblastoma' SubClassOf 'Olfactory Neuroblastoma' http://purl.obolibrary.org/obo/GO_1990542 mitochondrial transmembrane transport 'mitochondrial transmembrane transport' SubClassOf 'transport' 'mitochondrial transmembrane transport' SubClassOf 'cellular process' http://purl.obolibrary.org/obo/CL_0000059 ameloblast 'ameloblast' SubClassOf 'epithelial cell' 'ameloblast' SubClassOf 'secretory cell' http://purl.obolibrary.org/obo/CL_0000076 squamous epithelial cell 'squamous epithelial cell' SubClassOf 'epithelial cell' http://purl.obolibrary.org/obo/MONDO_0001007 chronic meningitis 'chronic meningitis' SubClassOf 'meningitis' http://purl.obolibrary.org/obo/HP_0008169 Reduced factor VII activity 'Reduced factor VII activity' SubClassOf 'Abnormality of coagulation' http://purl.obolibrary.org/obo/MONDO_0015445 autosomal dominant coarctation of aorta 'autosomal dominant coarctation of aorta' SubClassOf 'autosomal dominant disease' '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' 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' EquivalentTo 'carcinoma' and ('disease has location' some 'nasopharynx') 'nasopharyngeal carcinoma' SubClassOf 'carcinoma of pharynx' 'nasopharyngeal carcinoma' SubClassOf 'head and neck carcinoma' http://purl.obolibrary.org/obo/CL_0000166 chromaffin cell 'chromaffin cell' SubClassOf 'neuroendocrine cell' http://purl.obolibrary.org/obo/UBERON_0007196 tracheobronchial tree 'tracheobronchial tree' SubClassOf 'anatomical structure' 'tracheobronchial tree' SubClassOf 'part of' some 'anatomical system' 'tracheobronchial tree' SubClassOf 'part of' some 'lower respiratory tract' http://purl.obolibrary.org/obo/UBERON_0007195 stroma of bone marrow 'stroma of bone marrow' SubClassOf 'skeleton structure' 'stroma of bone marrow' SubClassOf 'part of' some 'bone marrow' http://purl.obolibrary.org/obo/HP_0008070 Sparse hair 'Sparse hair' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/CL_0000210 photoreceptor cell 'photoreceptor cell' SubClassOf 'sensory neuron' 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' EquivalentTo 'cysts and fistulae of the face and oral cavity' and ('disease has location' some 'tongue') 'digestive duplication cyst of the tongue' SubClassOf 'tongue disorder' http://purl.obolibrary.org/obo/CL_0000234 phagocyte 'phagocyte' SubClassOf 'cell' http://purl.obolibrary.org/obo/MONDO_0015391 nasopharyngeal teratoma 'nasopharyngeal teratoma' SubClassOf 'nasopharyngeal neoplasm' 'nasopharyngeal teratoma' SubClassOf 'teratoma' 'nasopharyngeal teratoma' SubClassOf 'extragonadal teratoma' 'nasopharyngeal teratoma' EquivalentTo 'teratoma' and ('disease has location' some 'nasopharynx') http://purl.obolibrary.org/obo/CL_0000244 transitional epithelial cell 'transitional epithelial cell' SubClassOf 'epithelial cell' http://purl.obolibrary.org/obo/CL_1001428 bladder urothelial cell 'bladder urothelial cell' SubClassOf 'urothelial cell' http://purl.obolibrary.org/obo/HP_0008398 Hypoplastic fifth fingernail 'Hypoplastic fifth fingernail' SubClassOf 'Aplasia/Hypoplasia of the nails' 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' http://purl.obolibrary.org/obo/MONDO_0015289 infectious epithelial keratitis 'infectious epithelial keratitis' EquivalentTo 'infectious disease' and ('disease has inflammation site' some 'corneal epithelium') 'infectious epithelial keratitis' SubClassOf 'disease has inflammation site' some 'corneal epithelium' 'infectious epithelial keratitis' SubClassOf 'corneal infection' 'infectious epithelial keratitis' SubClassOf 'viral eye infection' http://purl.obolibrary.org/obo/UBERON_0007798 vascular system 'vascular system' SubClassOf 'anatomical system' 'vascular system' SubClassOf 'part of' some 'cardiovascular system' http://purl.obolibrary.org/obo/HP_0008321 Reduced factor X activity 'Reduced factor X activity' SubClassOf 'Abnormality of coagulation' http://purl.obolibrary.org/obo/MONDO_0030702 autoimmune atherosclerosis 'autoimmune atherosclerosis' SubClassOf 'atherosclerosis' 'autoimmune atherosclerosis' SubClassOf 'autoimmune disorder of cardiovascular system' 'autoimmune atherosclerosis' EquivalentTo 'atherosclerosis' and ('disease arises from feature' some 'Autoimmunity') http://purl.obolibrary.org/obo/MONDO_0030701 autoimmune cardiomyopathy 'autoimmune cardiomyopathy' SubClassOf 'cardiomyopathy' 'autoimmune cardiomyopathy' EquivalentTo 'cardiomyopathy' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune cardiomyopathy' SubClassOf 'autoimmune disorder of musculoskeletal system' 'autoimmune cardiomyopathy' SubClassOf 'autoimmune disorder of cardiovascular system' http://purl.obolibrary.org/obo/MONDO_0030703 autoimmune vasculitis 'autoimmune vasculitis' EquivalentTo 'vasculitis' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune vasculitis' SubClassOf 'vasculitis' 'autoimmune vasculitis' SubClassOf 'autoimmune disorder of cardiovascular system' http://purl.obolibrary.org/obo/MONDO_0030700 autoimmune glomerulonephritis 'autoimmune glomerulonephritis' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune glomerulonephritis' EquivalentTo 'glomerulonephritis' and ('disease arises from feature' some 'Autoimmunity') 'autoimmune glomerulonephritis' SubClassOf 'glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0030706 Trichomonas cystitis 'Trichomonas cystitis' SubClassOf 'cystitis' 'Trichomonas cystitis' SubClassOf 'Trichomonas vaginitis' http://purl.obolibrary.org/obo/MONDO_0030705 Trichomonas 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 'cervicitis' http://purl.obolibrary.org/obo/MONDO_0030707 Trichomonas balanoposthitis 'Trichomonas balanoposthitis' SubClassOf 'trichomoniasis' 'Trichomonas balanoposthitis' SubClassOf 'balanoposthitis' http://purl.obolibrary.org/obo/MONDO_0030720 trichomonal vulvovaginitis 'trichomonal vulvovaginitis' SubClassOf 'vulvovaginitis' 'trichomonal vulvovaginitis' SubClassOf 'infective vaginitis' 'trichomonal vulvovaginitis' SubClassOf 'Trichomonas vaginitis' http://purl.obolibrary.org/obo/UBERON_0007616 layer of synovial tissue 'layer of synovial tissue' SubClassOf 'serous membrane' http://purl.obolibrary.org/obo/GO_0042713 sperm ejaculation 'sperm ejaculation' SubClassOf 'reproductive process' http://purl.obolibrary.org/obo/MONDO_0030602 Klebsiella pneumonia 'Klebsiella pneumonia' SubClassOf 'bacterial pneumonia' 'Klebsiella pneumonia' SubClassOf 'Klebsiella infectious disease' http://purl.obolibrary.org/obo/MONDO_0015071 middle ear neuroendocrine tumor 'middle ear neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('disease has location' some 'middle ear') 'middle ear neuroendocrine tumor' SubClassOf 'neuroendocrine neoplasm' 'middle ear neuroendocrine tumor' SubClassOf 'neoplasm of middle ear' http://purl.obolibrary.org/obo/MONDO_0015069 neuroendocrine tumor of the anal canal 'neuroendocrine tumor of the anal canal' SubClassOf 'neuroendocrine tumor of rectum, well differentiated, low or intermediate grade' 'neuroendocrine tumor of the anal canal' SubClassOf 'anal canal 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 'digestive system neuroendocrine tumor, grade 1/2' http://purl.obolibrary.org/obo/GO_0003015 heart process 'heart process' SubClassOf 'system process' http://purl.obolibrary.org/obo/MONDO_0015072 liver neuroendocrine carcinoma 'liver neuroendocrine carcinoma' SubClassOf 'carcinoma of liver and intrahepatic biliary tract' 'liver neuroendocrine carcinoma' SubClassOf 'digestive system neuroendocrine neoplasm' 'liver neuroendocrine carcinoma' EquivalentTo 'neuroendocrine carcinoma' and ('disease has location' some 'liver') 'liver neuroendocrine carcinoma' SubClassOf 'neuroendocrine carcinoma' http://purl.obolibrary.org/obo/GO_0003006 developmental process involved in reproduction 'developmental process involved in reproduction' SubClassOf 'reproductive process' 'developmental process involved in reproduction' SubClassOf 'developmental process' 'developmental process involved in reproduction' EquivalentTo 'reproductive process' and 'developmental process' http://purl.obolibrary.org/obo/GO_0042640 anagen 'anagen' SubClassOf 'biological_process' http://purl.obolibrary.org/obo/GO_0042697 menopause 'menopause' SubClassOf 'biological_process' http://purl.obolibrary.org/obo/OBA_2050418 voice quality trait 'voice quality trait' SubClassOf 'inheres in' some 'vocal organ' 'voice quality trait' SubClassOf 'quality' http://purl.obolibrary.org/obo/MONDO_0011292 dermatitis, atopic 'dermatitis, atopic' SubClassOf 'atopic eczema' http://purl.obolibrary.org/obo/MONDO_0001907 adult dermatomyositis 'adult dermatomyositis' SubClassOf 'dermatomyositis' http://purl.obolibrary.org/obo/MONDO_0001917 chronic perichondritis of pinna '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' http://purl.obolibrary.org/obo/MONDO_0001930 acute cholangitis 'acute cholangitis' SubClassOf 'acute disease' 'acute cholangitis' SubClassOf 'cholangitis' http://purl.obolibrary.org/obo/MONDO_0001966 chronic closed-angle 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' EquivalentTo 'lymphoma' and ('disease has location' some 'ureter') http://purl.obolibrary.org/obo/MONDO_0001991 malignant cardiac germ cell tumor 'malignant cardiac germ cell tumor' SubClassOf 'extragonadal germ cell cancer' 'malignant cardiac germ cell tumor' SubClassOf 'heart cancer' 'malignant cardiac germ cell tumor' SubClassOf 'cardiac germ cell tumor' 'malignant cardiac germ cell tumor' EquivalentTo 'Malignant Germ Cell Tumor' and ('disease has location' some 'heart') http://purl.obolibrary.org/obo/GO_0042403 thyroid hormone metabolic process 'thyroid hormone metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'thyroid hormone metabolic process' SubClassOf 'organic cyclic compound metabolic process' 'thyroid hormone metabolic process' SubClassOf 'cellular aromatic compound metabolic process' http://purl.obolibrary.org/obo/GO_0042423 catecholamine biosynthetic process 'catecholamine biosynthetic process' SubClassOf 'aromatic compound biosynthetic process' 'catecholamine biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' 'catecholamine biosynthetic process' SubClassOf 'cellular nitrogen compound biosynthetic process' 'catecholamine biosynthetic process' SubClassOf 'organic cyclic compound biosynthetic process' 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' http://purl.obolibrary.org/obo/MONDO_0011370 Stargardt disease 4 'Stargardt disease 4' SubClassOf 'Stargardt disease' 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' http://purl.obolibrary.org/obo/MONDO_0011192 autosomal recessive nonsyndromic hearing loss 18A 'autosomal recessive nonsyndromic hearing loss 18A' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0011196 amyotrophic lateral sclerosis type 5 'amyotrophic lateral sclerosis type 5' SubClassOf 'juvenile amyotrophic lateral sclerosis' 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 'acute disease' http://purl.obolibrary.org/obo/MONDO_0001816 scleroperikeratitis 'scleroperikeratitis' SubClassOf 'disease has inflammation site' some 'sclera' 'scleroperikeratitis' SubClassOf 'keratitis' 'scleroperikeratitis' SubClassOf 'scleritis' 'scleroperikeratitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'cornea') and ('disease has inflammation site' some 'sclera') http://purl.obolibrary.org/obo/MONDO_0001832 bacterial esophagitis 'bacterial esophagitis' SubClassOf 'vector-borne disease' 'bacterial esophagitis' SubClassOf 'transmitted by' some 'Bacteria' 'bacterial esophagitis' EquivalentTo 'esophagitis' and 'infectious disease' and ('transmitted by' some 'Bacteria') 'bacterial esophagitis' SubClassOf 'digestive system infectious disorder' 'bacterial esophagitis' SubClassOf 'esophagitis' http://purl.obolibrary.org/obo/MONDO_0001838 acute gonococcal prostatitis 'acute gonococcal prostatitis' SubClassOf 'gonococcal prostatitis' 'acute gonococcal prostatitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0001837 acute gonococcal salpingitis 'acute gonococcal salpingitis' SubClassOf 'gonococcal salpingitis' 'acute gonococcal salpingitis' SubClassOf 'acute salpingitis' http://purl.obolibrary.org/obo/MONDO_0001876 renal artery atheroma 'renal artery atheroma' SubClassOf 'renal artery disease' 'renal artery atheroma' SubClassOf 'aortic atherosclerosis' 'renal artery atheroma' EquivalentTo 'atherosclerosis' and ('disease has location' some 'renal artery') http://purl.obolibrary.org/obo/MONDO_0001884 abducens nerve neoplasm 'abducens nerve neoplasm' SubClassOf 'abducens nerve disorder' 'abducens nerve neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'abducens nerve') 'abducens nerve neoplasm' SubClassOf 'cranial nerve neoplasm' http://purl.obolibrary.org/obo/MONDO_0001888 anus lymphoma 'anus lymphoma' SubClassOf 'anus cancer' 'anus lymphoma' SubClassOf 'rectum lymphoma' 'anus lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'anus') http://purl.obolibrary.org/obo/MONDO_0001894 spinal cord sarcoma 'spinal cord sarcoma' SubClassOf 'spinal cord cancer' 'spinal cord sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'spinal cord') '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 'primary melanoma of the central nervous system' 'spinal cord melanoma' EquivalentTo 'melanoma' and ('disease has location' some 'spinal cord') http://purl.obolibrary.org/obo/MONDO_0001892 spinal cord lymphoma 'spinal cord lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'spinal cord') 'spinal cord lymphoma' SubClassOf 'spinal cord cancer' 'spinal cord lymphoma' SubClassOf 'Central Nervous System Lymphoma' http://purl.obolibrary.org/obo/MONDO_0011269 psoriasis 2 'psoriasis 2' SubClassOf 'psoriasis' http://purl.obolibrary.org/obo/MONDO_0011260 pancreatic lymphoma, familial 'pancreatic lymphoma, familial' SubClassOf 'pancreas lymphoma' http://purl.obolibrary.org/obo/MONDO_0011070 van Maldergem syndrome 1 'van Maldergem syndrome 1' SubClassOf 'van Maldergem syndrome' http://purl.obolibrary.org/obo/MONDO_0001709 hypercalcemic sarcoidosis 'hypercalcemic sarcoidosis' SubClassOf 'sarcoidosis' http://purl.obolibrary.org/obo/MONDO_0001701 gastrointestinal anthrax 'gastrointestinal anthrax' EquivalentTo 'anthrax infection' and ('disease has location' some 'digestive system') 'gastrointestinal anthrax' SubClassOf 'disease has location' some 'digestive system' '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' EquivalentTo 'sarcoidosis' and ('disease has location' some 'heart') 'cardiac sarcoidosis' SubClassOf 'disease has location' some 'heart' http://purl.obolibrary.org/obo/MONDO_0001706 cerebral sarcoidosis 'cerebral sarcoidosis' SubClassOf 'neurosarcoidosis' 'cerebral sarcoidosis' EquivalentTo 'sarcoidosis' and ('disease has location' some 'telencephalon') 'cerebral sarcoidosis' SubClassOf 'disease has location' some 'telencephalon' 'cerebral sarcoidosis' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0001719 gonococcal bursitis 'gonococcal bursitis' SubClassOf 'bursitis' 'gonococcal bursitis' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/MONDO_0001720 gonococcal synovitis 'gonococcal synovitis' SubClassOf 'gonococcal infection of joint' 'gonococcal synovitis' SubClassOf 'synovitis' http://purl.obolibrary.org/obo/MONDO_0001740 cornea squamous cell carcinoma 'cornea squamous cell carcinoma' SubClassOf 'eye carcinoma' 'cornea squamous cell carcinoma' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'cornea') 'cornea squamous cell carcinoma' SubClassOf 'head and neck squamous cell carcinoma' 'cornea squamous cell carcinoma' SubClassOf 'cornea cancer' http://purl.obolibrary.org/obo/MONDO_0001743 paranasal sinus lymphoma 'paranasal sinus lymphoma' SubClassOf 'primary bone lymphoma' 'paranasal sinus lymphoma' SubClassOf 'paranasal sinus cancer' 'paranasal sinus lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'paranasal sinus') 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' EquivalentTo 'sarcoma' and ('disease has location' some 'paranasal sinus') http://purl.obolibrary.org/obo/MONDO_0001760 photokeratitis 'photokeratitis' SubClassOf 'keratitis' 'photokeratitis' SubClassOf 'radiation-induced disorder' http://purl.obolibrary.org/obo/MONDO_0001777 acute 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 'prostate disease' 'prostate calculus' SubClassOf 'lower urinary tract calculus' 'prostate calculus' EquivalentTo 'lower urinary tract calculus' and ('disease has location' some 'prostate gland') http://purl.obolibrary.org/obo/MONDO_0001779 vaginal squamous papilloma 'vaginal squamous papilloma' EquivalentTo 'squamous papilloma' and ('disease has location' some 'vagina') '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_0011103 autosomal dominant nonsyndromic hearing loss 3A 'autosomal dominant nonsyndromic hearing loss 3A' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0001790 spinal cord lipoma 'spinal cord lipoma' SubClassOf 'central nervous system lipoma' 'spinal cord lipoma' EquivalentTo 'lipoma' and ('disease has location' some 'spinal cord') 'spinal cord lipoma' SubClassOf 'benign neoplasm of spinal cord' http://purl.obolibrary.org/obo/MONDO_0011125 trichothiodystrophy 1, photosensitive 'trichothiodystrophy 1, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' http://purl.obolibrary.org/obo/MONDO_0011137 retinitis pigmentosa 19 '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' 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' http://purl.obolibrary.org/obo/MONDO_0011165 glomerulopathy with fibronectin deposits 2 'glomerulopathy with fibronectin deposits 2' SubClassOf 'fibronectin glomerulopathy' http://purl.obolibrary.org/obo/MONDO_0025598 pneumonia caused by chlamydia 'pneumonia caused by chlamydia' SubClassOf 'Chlamydia trachomatis infectious disease' 'pneumonia caused by chlamydia' SubClassOf 'pneumonia caused by gram negative bacteria' http://purl.obolibrary.org/obo/UBERON_0007844 cartilage element 'cartilage element' SubClassOf 'skeletal element' http://purl.obolibrary.org/obo/HP_0008905 Rhizomelia 'Rhizomelia' SubClassOf 'Limb undergrowth' 'Rhizomelia' SubClassOf 'Disproportionate short-limb short stature' http://purl.obolibrary.org/obo/UBERON_0007811 craniocervical region 'craniocervical region' SubClassOf 'anatomical structure' 'craniocervical region' SubClassOf 'part of' some 'multicellular organism' 'craniocervical region' SubClassOf 'part of' some 'body proper' http://purl.obolibrary.org/obo/MONDO_0001606 central nervous system leukemia 'central nervous system leukemia' EquivalentTo 'leukemia' and ('disease has location' some 'central nervous system') '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 'corneal infection' 'epidemic keratoconjunctivitis' SubClassOf 'viral conjunctivitis' 'epidemic keratoconjunctivitis' SubClassOf 'adenoviridae infectious disease' 'epidemic keratoconjunctivitis' SubClassOf 'keratoconjunctivitis' http://purl.obolibrary.org/obo/MONDO_0001624 acute sphenoidal sinusitis 'acute sphenoidal sinusitis' SubClassOf 'sphenoid sinusitis' 'acute sphenoidal sinusitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0001628 tinea unguium 'tinea unguium' EquivalentTo 'dermatophytosis' and ('disease has location' some 'nail') 'tinea unguium' SubClassOf 'nail infection' 'tinea unguium' SubClassOf 'dermatophytosis' http://purl.obolibrary.org/obo/MONDO_0001634 bladder leiomyoma 'bladder leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'urinary bladder') 'bladder leiomyoma' SubClassOf 'bladder benign neoplasm' 'bladder leiomyoma' SubClassOf 'leiomyoma' http://purl.obolibrary.org/obo/MONDO_0001640 gonococcal spondylitis 'gonococcal spondylitis' SubClassOf 'spondylitis' 'gonococcal spondylitis' SubClassOf 'gonorrhea' http://purl.obolibrary.org/obo/GO_0017119 Golgi transport complex 'Golgi transport complex' SubClassOf 'cellular_component' 'Golgi transport complex' SubClassOf 'part of' some 'Golgi apparatus' http://purl.obolibrary.org/obo/MONDO_0001649 fungal esophagitis 'fungal esophagitis' SubClassOf 'esophagitis' 'fungal esophagitis' SubClassOf 'fungal infectious disease' 'fungal esophagitis' SubClassOf 'transmitted by' some 'Fungi' 'fungal esophagitis' SubClassOf 'digestive system infectious disorder' 'fungal esophagitis' EquivalentTo 'esophagitis' and 'infectious disease' and ('transmitted by' some 'Fungi') 'fungal esophagitis' SubClassOf 'vector-borne disease' http://purl.obolibrary.org/obo/MONDO_0001652 scrotum melanoma 'scrotum melanoma' SubClassOf 'melanoma' 'scrotum melanoma' EquivalentTo 'melanoma' and ('disease has location' some 'scrotum') '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' EquivalentTo 'squamous cell carcinoma' and ('disease has location' some 'scrotum') 'scrotum squamous cell carcinoma' SubClassOf 'scrotal carcinoma' http://purl.obolibrary.org/obo/MONDO_0001650 acute cystitis 'acute cystitis' SubClassOf 'cystitis' 'acute cystitis' SubClassOf 'acute disease' 'acute cystitis' SubClassOf 'bacterial urinary tract infection' http://purl.obolibrary.org/obo/MONDO_0001678 intestinal tuberculosis 'intestinal tuberculosis' SubClassOf 'gastrointestinal tuberculosis' 'intestinal tuberculosis' EquivalentTo 'tuberculosis' and ('disease has inflammation site' some 'intestine') 'intestinal tuberculosis' SubClassOf 'gastroenteritis' http://purl.obolibrary.org/obo/MONDO_0011001 Brugada syndrome 1 'Brugada syndrome 1' SubClassOf 'Brugada syndrome' http://purl.obolibrary.org/obo/MONDO_0001699 tinea manuum 'tinea manuum' EquivalentTo 'dermatophytosis' and ('disease has location' some 'manus') 'tinea manuum' SubClassOf 'disease has location' some 'manus' 'tinea manuum' SubClassOf 'dermatophytosis' http://purl.obolibrary.org/obo/GO_0017168 5-oxoprolinase (ATP-hydrolyzing) activity '5-oxoprolinase (ATP-hydrolyzing) activity' SubClassOf 'catalytic activity' 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' 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' http://purl.obolibrary.org/obo/MONDO_0001499 retroperitoneal lymphoma 'retroperitoneal lymphoma' SubClassOf 'retroperitoneal cancer' 'retroperitoneal lymphoma' SubClassOf 'lymphoma' 'retroperitoneal lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'retroperitoneal space') http://purl.obolibrary.org/obo/GO_0017099 very-long-chain fatty acyl-CoA dehydrogenase activity 'very-long-chain fatty acyl-CoA dehydrogenase activity' SubClassOf 'catalytic activity' http://purl.obolibrary.org/obo/UBERON_0003343 mucosa of oral region 'mucosa of oral region' EquivalentTo 'mucosa' and ('part of' some 'oral opening') 'mucosa of oral region' SubClassOf 'mouth mucosa' 'mucosa of oral region' SubClassOf 'part of' some 'oral opening' http://purl.obolibrary.org/obo/GO_0007613 memory 'memory' SubClassOf 'behavior' 'memory' SubClassOf 'system process' http://purl.obolibrary.org/obo/GO_0007623 circadian rhythm 'circadian rhythm' SubClassOf 'biological_process' http://purl.obolibrary.org/obo/MONDO_0001501 retroperitoneal sarcoma 'retroperitoneal sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'retroperitoneal space') 'retroperitoneal sarcoma' SubClassOf 'retroperitoneal cancer' 'retroperitoneal sarcoma' SubClassOf 'soft tissue sarcoma' http://purl.obolibrary.org/obo/MONDO_0001506 prostatocystitis 'prostatocystitis' SubClassOf 'cystitis' 'prostatocystitis' SubClassOf 'bacterial urinary tract infection' 'prostatocystitis' EquivalentTo 'disease' and ('disease has inflammation site' some 'urinary bladder') and ('disease has inflammation site' some 'prostate gland') 'prostatocystitis' SubClassOf 'prostatitis' http://purl.obolibrary.org/obo/MONDO_0001507 viral labyrinthitis 'viral labyrinthitis' SubClassOf 'ear infection' 'viral labyrinthitis' SubClassOf 'infectious disorder of the nervous system' 'viral labyrinthitis' SubClassOf 'viral disease' 'viral labyrinthitis' SubClassOf 'labyrinthitis' http://purl.obolibrary.org/obo/MONDO_0001538 retinal ischemia 'retinal ischemia' SubClassOf 'retinopathy' 'retinal ischemia' SubClassOf 'neurovascular disorder' 'retinal ischemia' SubClassOf 'ischemic disease' 'retinal ischemia' EquivalentTo 'ischemic disease' and ('disease has location' some 'retina') http://purl.obolibrary.org/obo/MONDO_0001536 vaginal leiomyoma 'vaginal leiomyoma' SubClassOf 'leiomyoma' 'vaginal leiomyoma' SubClassOf 'benign vaginal neoplasm' 'vaginal leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'vagina') http://purl.obolibrary.org/obo/MONDO_0025513 autoimmune urticaria 'autoimmune urticaria' SubClassOf 'type II hypersensitivity reaction disease' 'autoimmune urticaria' SubClassOf 'urticaria' 'autoimmune urticaria' EquivalentTo 'urticaria' and ('disease arises from feature' some 'Autoimmunity') http://purl.obolibrary.org/obo/MONDO_0001575 chronic gonococcal salpingitis 'chronic gonococcal salpingitis' SubClassOf 'gonococcal salpingitis' 'chronic gonococcal salpingitis' SubClassOf 'chronic salpingitis' http://purl.obolibrary.org/obo/MONDO_0001388 glans penis cancer 'glans penis cancer' SubClassOf 'penile cancer' 'glans penis cancer' EquivalentTo 'cancer' and ('disease has location' some 'glans penis') 'glans penis cancer' SubClassOf 'disease has location' some 'glans penis' http://purl.obolibrary.org/obo/MONDO_0001387 penile sarcoma 'penile sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'penis') 'penile sarcoma' SubClassOf 'soft tissue sarcoma' 'penile sarcoma' SubClassOf 'penile cancer' http://purl.obolibrary.org/obo/MONDO_0001381 bladder lymphoma 'bladder lymphoma' SubClassOf 'lymphoma' 'bladder lymphoma' SubClassOf 'urinary bladder cancer' 'bladder lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'urinary bladder') http://purl.obolibrary.org/obo/MONDO_0001399 ureter leiomyoma 'ureter leiomyoma' EquivalentTo 'leiomyoma' and ('disease has location' some 'ureter') 'ureter leiomyoma' SubClassOf 'leiomyoma' 'ureter leiomyoma' SubClassOf 'ureter benign neoplasm' 'ureter leiomyoma' SubClassOf 'renal leiomyoma' http://purl.obolibrary.org/obo/MONDO_0001398 ureter benign neoplasm 'ureter benign neoplasm' SubClassOf 'ureteral neoplasm' 'ureter benign neoplasm' EquivalentTo 'benign neoplasm' and ('disease has location' some 'ureter') 'ureter benign neoplasm' SubClassOf 'kidney benign neoplasm' 'ureter benign neoplasm' SubClassOf 'benign urinary system neoplasm' http://purl.obolibrary.org/obo/UBERON_0003244 epithelium of mammary gland 'epithelium of mammary gland' EquivalentTo 'epithelium' and ('part of' some 'mammary gland') 'epithelium of mammary gland' SubClassOf 'part of' some 'mammary gland' 'epithelium of mammary gland' SubClassOf 'epithelium' http://purl.obolibrary.org/obo/GO_0007507 heart development 'heart development' SubClassOf 'part of' some 'circulatory system development' 'heart development' SubClassOf 'animal organ development' http://purl.obolibrary.org/obo/UBERON_0003292 meninx of spinal cord 'meninx of spinal cord' SubClassOf 'meninx' 'meninx of spinal cord' SubClassOf 'part of' some 'anatomical system' 'meninx of spinal cord' SubClassOf 'part of' some 'spinal cord' 'meninx of spinal cord' SubClassOf 'part of' some 'dorsum' 'meninx of spinal cord' EquivalentTo 'meninx' and ('part of' some 'spinal cord') http://purl.obolibrary.org/obo/GO_0007548 sex differentiation 'sex differentiation' SubClassOf 'developmental process involved in reproduction' http://purl.obolibrary.org/obo/MONDO_0001400 schwannoma of ureter 'schwannoma of ureter' SubClassOf 'ureter benign neoplasm' 'schwannoma of ureter' SubClassOf 'benign glioma' 'schwannoma of ureter' SubClassOf 'peripheral nerve schwannoma' 'schwannoma of ureter' SubClassOf 'benign neoplasm of peripheral nervous system' 'schwannoma of ureter' EquivalentTo 'schwannoma' and ('disease has location' some 'ureter') http://purl.obolibrary.org/obo/GO_0007565 female pregnancy 'female pregnancy' SubClassOf 'reproductive process' 'female pregnancy' SubClassOf 'multicellular organismal process' http://purl.obolibrary.org/obo/MONDO_0001418 trachea sarcoma 'trachea sarcoma' SubClassOf 'soft tissue sarcoma' 'trachea sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'trachea') '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' EquivalentTo 'lymphoma' and ('disease has location' some 'trachea') http://purl.obolibrary.org/obo/MONDO_0001421 frontal lobe neoplasm 'frontal lobe neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'frontal lobe') 'frontal lobe neoplasm' SubClassOf 'disease has location' some 'frontal lobe' 'frontal lobe neoplasm' SubClassOf 'neoplasm of cerebral hemisphere' http://purl.obolibrary.org/obo/MONDO_0001420 trigeminal nerve neoplasm 'trigeminal nerve neoplasm' SubClassOf 'trigeminal nerve disease' 'trigeminal nerve neoplasm' SubClassOf 'cranial nerve neoplasm' 'trigeminal nerve neoplasm' EquivalentTo 'neoplasm' and ('disease has location' some 'trigeminal nerve') http://purl.obolibrary.org/obo/MONDO_0001429 transient arthropathy 'transient arthropathy' SubClassOf 'joint disease' http://purl.obolibrary.org/obo/GO_0007585 respiratory gaseous exchange by respiratory system 'respiratory gaseous exchange by respiratory system' SubClassOf 'multicellular organismal process' http://purl.obolibrary.org/obo/MONDO_0001474 chronic salpingo-oophoritis 'chronic salpingo-oophoritis' SubClassOf 'salpingo-oophoritis' 'chronic salpingo-oophoritis' SubClassOf 'chronic salpingitis' http://purl.obolibrary.org/obo/MONDO_0001251 chronic apical periodontitis 'chronic apical periodontitis' SubClassOf 'chronic periodontitis' 'chronic apical periodontitis' SubClassOf 'Periapical Periodontitis' http://purl.obolibrary.org/obo/MONDO_0001277 cerebral arteritis 'cerebral arteritis' SubClassOf 'cerebrovascular disorder' 'cerebral arteritis' SubClassOf 'central nervous system vasculitis' 'cerebral arteritis' SubClassOf 'disease has inflammation site' some 'cerebral artery' 'cerebral arteritis' SubClassOf 'Arteritis' 'cerebral arteritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'cerebral artery') http://purl.obolibrary.org/obo/MONDO_0001275 spinal meningioma 'spinal meningioma' EquivalentTo 'meningioma' and ('disease has location' some 'spinal cord') 'spinal meningioma' SubClassOf 'intraspinal meningioma' 'spinal meningioma' SubClassOf 'spinal cord neoplasm' http://purl.obolibrary.org/obo/MONDO_0001279 intraspinal meningioma 'intraspinal meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0001284 endometriosis of intestine 'endometriosis of intestine' EquivalentTo 'endometriosis' and ('disease has location' some 'intestine') 'endometriosis of intestine' SubClassOf 'intestinal disease' 'endometriosis of intestine' SubClassOf 'endometriosis' http://purl.obolibrary.org/obo/MONDO_0001298 congenital mitral valve insufficiency 'congenital mitral valve insufficiency' EquivalentTo 'vascular insufficiency disorder' and ('disease has location' some 'mitral valve') 'congenital mitral valve insufficiency' SubClassOf 'mitral valve disease' 'congenital mitral valve insufficiency' SubClassOf 'vascular insufficiency disorder' http://purl.obolibrary.org/obo/MONDO_0001290 allergic cutaneous vasculitis 'allergic cutaneous vasculitis' SubClassOf 'hypersensitivity vasculitis' 'allergic cutaneous vasculitis' SubClassOf 'cutaneous vasculitis' 'allergic cutaneous vasculitis' SubClassOf 'atopic eczema' http://purl.obolibrary.org/obo/UBERON_0003129 skull 'skull' SubClassOf 'part of' some 'skeletal system' 'skull' SubClassOf 'part of' some 'anatomical system' 'skull' SubClassOf 'skeleton structure' 'skull' SubClassOf 'part of' some 'head' http://purl.obolibrary.org/obo/UBERON_0003135 male reproductive organ 'male reproductive organ' SubClassOf 'part of' some 'reproductive system' 'male reproductive organ' SubClassOf 'part of' some 'male reproductive system' 'male reproductive organ' SubClassOf 'anatomical structure' 'male reproductive organ' SubClassOf 'part of' some 'anatomical system' http://purl.obolibrary.org/obo/UBERON_0003134 female reproductive organ 'female reproductive organ' SubClassOf 'part of' some 'reproductive system' 'female reproductive organ' SubClassOf 'part of' some 'female organism' 'female reproductive organ' SubClassOf 'anatomical structure' 'female reproductive organ' SubClassOf 'part of' some 'anatomical system' 'female reproductive organ' SubClassOf 'part of' some 'female reproductive system' http://purl.obolibrary.org/obo/UBERON_0003100 female organism 'female organism' SubClassOf 'multicellular organism' http://purl.obolibrary.org/obo/GO_0007411 axon guidance 'axon guidance' SubClassOf 'cellular component organization' http://purl.obolibrary.org/obo/MONDO_0001335 hypotrichosis of eyelid 'hypotrichosis of eyelid' SubClassOf 'eyelid disease' 'hypotrichosis of eyelid' EquivalentTo 'hypotrichosis' and ('disease has location' some 'eyelid') 'hypotrichosis of eyelid' SubClassOf 'hypotrichosis' http://purl.obolibrary.org/obo/GO_0007499 ectoderm and mesoderm interaction 'ectoderm and mesoderm interaction' SubClassOf 'regulation of biological process' 'ectoderm and mesoderm interaction' SubClassOf 'cell communication' http://purl.obolibrary.org/obo/MONDO_0001355 ocular siderosis 'ocular siderosis' SubClassOf 'eye disease' 'ocular siderosis' EquivalentTo 'hemosiderosis' and ('disease has location' some 'camera-type eye') 'ocular siderosis' SubClassOf 'hemosiderosis' http://purl.obolibrary.org/obo/MONDO_0001351 uterine adnexa cancer 'uterine adnexa cancer' SubClassOf 'uterine cancer' http://purl.obolibrary.org/obo/MONDO_0001350 parametrium malignant neoplasm 'parametrium malignant neoplasm' EquivalentTo 'cancer' and ('disease has location' some 'parametrium') 'parametrium malignant neoplasm' SubClassOf 'disease has location' some 'parametrium' 'parametrium malignant neoplasm' SubClassOf 'broad ligament malignant neoplasm' http://purl.obolibrary.org/obo/MONDO_0001130 nasal cavity lymphoma 'nasal cavity lymphoma' SubClassOf 'lymphoma' 'nasal cavity lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'nasal cavity') 'nasal cavity lymphoma' SubClassOf 'nasal cavity cancer' http://purl.obolibrary.org/obo/GO_0071953 elastic fiber 'elastic fiber' SubClassOf 'cellular_component' 'elastic fiber' SubClassOf 'part of' some 'extracellular matrix' http://purl.obolibrary.org/obo/MONDO_0015792 transient congenital hypothyroidism 'transient congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0001171 acute salpingo-oophoritis 'acute salpingo-oophoritis' SubClassOf 'salpingo-oophoritis' 'acute salpingo-oophoritis' SubClassOf 'acute salpingitis' http://purl.obolibrary.org/obo/MONDO_0001173 acute salpingitis 'acute salpingitis' SubClassOf 'salpingitis' 'acute salpingitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0001172 salpingo-oophoritis 'salpingo-oophoritis' SubClassOf 'oophoritis' 'salpingo-oophoritis' SubClassOf 'salpingitis' 'salpingo-oophoritis' EquivalentTo 'disease' and ('disease has inflammation site' some 'ovary') and ('disease has inflammation site' some 'fallopian tube') http://purl.obolibrary.org/obo/MONDO_0001188 esophagus lymphoma 'esophagus lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'esophagus') 'esophagus lymphoma' SubClassOf 'gastrointestinal lymphoma' 'esophagus lymphoma' SubClassOf 'esophageal cancer' http://purl.obolibrary.org/obo/MONDO_0001185 dissociative amnesia 'dissociative amnesia' SubClassOf 'dissociative disorder' 'dissociative amnesia' SubClassOf 'disease disrupts' some 'memory' 'dissociative amnesia' EquivalentTo 'dissociative disorder' and ('disease disrupts' some 'memory') http://purl.obolibrary.org/obo/MONDO_0001184 chronic rapidly progressive glomerulonephritis 'chronic rapidly progressive glomerulonephritis' SubClassOf 'chronic kidney disease' 'chronic rapidly progressive glomerulonephritis' SubClassOf 'rapidly progressive glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0001192 esophageal melanoma 'esophageal melanoma' SubClassOf 'esophageal cancer' 'esophageal melanoma' SubClassOf 'digestive system melanoma' 'esophageal melanoma' EquivalentTo 'melanoma' and ('disease has location' some 'esophagus') http://purl.obolibrary.org/obo/MONDO_0015806 adult intestinal botulism 'adult intestinal botulism' SubClassOf 'intestinal botulism' http://purl.obolibrary.org/obo/MONDO_0015805 intestinal botulism 'intestinal botulism' SubClassOf 'toxin-mediated infectious botulism' http://purl.obolibrary.org/obo/MONDO_0015804 infant botulism 'infant botulism' SubClassOf 'intestinal botulism' http://purl.obolibrary.org/obo/UBERON_0003074 mesonephric duct 'mesonephric duct' SubClassOf 'part of' some 'mesonephros' 'mesonephric duct' SubClassOf 'epithelium' 'mesonephric duct' SubClassOf 'duct' 'mesonephric duct' SubClassOf 'part of' some 'renal system' 'mesonephric duct' SubClassOf 'part of' some 'kidney' http://purl.obolibrary.org/obo/MONDO_0001204 esophagus sarcoma 'esophagus sarcoma' SubClassOf 'soft tissue sarcoma' 'esophagus sarcoma' EquivalentTo 'sarcoma' and ('disease has location' some 'esophagus') 'esophagus sarcoma' SubClassOf 'esophageal cancer' http://purl.obolibrary.org/obo/MONDO_0001227 chronic tympanitis 'chronic tympanitis' SubClassOf 'tympanitis' 'chronic tympanitis' SubClassOf 'chronic otitis media' http://purl.obolibrary.org/obo/GO_0046952 ketone body catabolic process 'ketone body catabolic process' SubClassOf 'lipid catabolic process' 'ketone body catabolic process' SubClassOf 'generation of precursor metabolites and energy' http://purl.obolibrary.org/obo/MONDO_0001229 small intestine diverticulitis 'small intestine diverticulitis' EquivalentTo 'diverticulitis' and ('disease has location' some 'small intestine') 'small intestine diverticulitis' SubClassOf 'diverticulitis' 'small intestine diverticulitis' SubClassOf 'small intestine disorder' http://purl.obolibrary.org/obo/MONDO_0001237 appendix lymphoma 'appendix lymphoma' SubClassOf 'appendix cancer' 'appendix lymphoma' EquivalentTo 'lymphoma' and ('disease has location' some 'vermiform appendix') 'appendix lymphoma' SubClassOf 'cecum lymphoma' 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' http://purl.obolibrary.org/obo/MONDO_0003540 acute T cell leukemia 'acute T cell leukemia' SubClassOf 'T-cell leukemia' 'acute T cell leukemia' SubClassOf 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0000535 tonsil squamous cell carcinoma 'tonsil squamous cell carcinoma' SubClassOf 'oropharynx squamous cell carcinoma' 'tonsil squamous cell carcinoma' SubClassOf 'tonsil carcinoma' http://purl.obolibrary.org/obo/MONDO_0001558 Potter sequence 'Potter sequence' SubClassOf 'oligohydramnios' 'Potter sequence' SubClassOf 'syndromic disease' 'Potter sequence' DisjointWith 'bilateral renal agenesis'