2799 55 9 http://www.ebi.ac.uk/efo/EFO_1000220 Disseminated Peritoneal Leiomyomatosis 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'peritoneal benign neoplasm' 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'peritoneal benign neoplasm' http://www.ebi.ac.uk/efo/EFO_1000246 Ethmoid Sinus Adenoid Cystic Carcinoma 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'Paranasal Sinus Adenoid Cystic Carcinoma' 'Ethmoid Sinus Adenoid Cystic Carcinoma' SubClassOf 'Paranasal Sinus Adenoid Cystic Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000244 Epithelioid Cell Uveal Melanoma 'Epithelioid Cell Uveal Melanoma' SubClassOf 'epithelioid cell melanoma' 'Epithelioid Cell Uveal Melanoma' SubClassOf 'epithelioid cell melanoma' http://www.ebi.ac.uk/efo/EFO_1000260 Floor of Mouth Mucoepidermoid Carcinoma 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'oral cavity mucoepidermoid carcinoma' 'Floor of Mouth Mucoepidermoid Carcinoma' SubClassOf 'oral cavity mucoepidermoid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000274 Gastric Mucosa-Associated Lymphoid Tissue Lymphoma 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'gastric non-hodgkin lymphoma' 'Gastric Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'gastric non-hodgkin lymphoma' http://www.ebi.ac.uk/efo/EFO_1000283 Grade III Prostatic Intraepithelial Neoplasia 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate carcinoma' 'Grade III Prostatic Intraepithelial Neoplasia' SubClassOf 'prostate carcinoma' http://www.ebi.ac.uk/efo/EFO_0000401 diabetic nephropathy 'diabetic nephropathy' SubClassOf 'chronic kidney disease' 'diabetic nephropathy' SubClassOf 'chronic kidney disease' http://purl.obolibrary.org/obo/MONDO_0021500 benign neoplasm of spleen 'benign neoplasm of spleen' SubClassOf 'spleen neoplasm' 'benign neoplasm of spleen' SubClassOf 'spleen neoplasm' http://purl.obolibrary.org/obo/MONDO_0021509 benign neoplasm of myocardium 'benign neoplasm of myocardium' SubClassOf 'benign neoplasm of heart' 'benign neoplasm of myocardium' SubClassOf 'benign neoplasm of heart' http://purl.obolibrary.org/obo/MONDO_0021505 benign neoplasm of endocardium 'benign neoplasm of endocardium' SubClassOf 'benign neoplasm of heart' 'benign neoplasm of endocardium' SubClassOf 'benign neoplasm of heart' 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 heart' http://www.ebi.ac.uk/efo/EFO_1000203 Conjunctival Disorder 'Conjunctival Disorder' SubClassOf 'eye disease' 'Conjunctival Disorder' SubClassOf 'eye disease' http://www.ebi.ac.uk/efo/EFO_0000478 esophageal adenocarcinoma 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' 'esophageal adenocarcinoma' SubClassOf 'adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000205 Conjunctival Nevus 'Conjunctival Nevus' SubClassOf 'Benign Conjunctival Neoplasm' 'Conjunctival Nevus' SubClassOf 'Benign Conjunctival Neoplasm' http://purl.obolibrary.org/obo/MONDO_0021510 benign neoplasm of prostate 'benign neoplasm of prostate' SubClassOf 'benign male reproductive system neoplasm' 'benign neoplasm of prostate' SubClassOf 'benign male reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000217 Digestive System Adenoma 'Digestive System Adenoma' SubClassOf 'adenoma' 'Digestive System Adenoma' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_1000218 Digestive System Carcinoma 'Digestive System Carcinoma' SubClassOf 'carcinoma' 'Digestive System Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_0000373 congestive heart failure 'congestive heart failure' SubClassOf 'disease has major feature' some 'Congestive heart failure' 'congestive heart failure' SubClassOf 'heart failure' 'congestive heart failure' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Congestive heart failure' 'congestive heart failure' SubClassOf 'heart failure' http://purl.obolibrary.org/obo/MONDO_0021547 amelogenesis imperfecta type 3B 'amelogenesis imperfecta type 3B' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta type 3B' SubClassOf http://purl.obolibrary.org/obo/MONDO_0968955 http://www.ebi.ac.uk/efo/EFO_0000365 colorectal adenocarcinoma 'colorectal adenocarcinoma' SubClassOf 'colorectal carcinoma' 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' 'colorectal adenocarcinoma' SubClassOf 'colorectal carcinoma' 'colorectal adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0021569 Emery-Dreifuss muscular dystrophy 2, autosomal dominant 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf 'disease shares features of' some 'X-linked Emery-Dreifuss muscular dystrophy' 'Emery-Dreifuss muscular dystrophy 2, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'X-linked Emery-Dreifuss muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0021553 transverse myelitis 'transverse myelitis' SubClassOf 'Myelitis' 'transverse myelitis' SubClassOf 'Myelitis' http://www.ebi.ac.uk/efo/EFO_1000188 Colon Neuroendocrine Tumor G1 'Colon Neuroendocrine Tumor G1' SubClassOf 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' 'Colon Neuroendocrine Tumor G1' SubClassOf 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' http://www.ebi.ac.uk/efo/EFO_1000195 Colorectal Neuroendocrine Tumor G1 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' 'Colorectal Neuroendocrine Tumor G1' SubClassOf 'intestinal neuroendocrine tumor G1' http://www.ebi.ac.uk/efo/EFO_1000198 Colorectal Squamous Cell Carcinoma 'Colorectal Squamous Cell Carcinoma' SubClassOf 'colorectal carcinoma' 'Colorectal Squamous Cell Carcinoma' SubClassOf 'colorectal carcinoma' http://www.ebi.ac.uk/efo/EFO_1000344 Major Salivary Gland Carcinoma 'Major Salivary Gland Carcinoma' SubClassOf 'major salivary gland cancer' 'Major Salivary Gland Carcinoma' SubClassOf 'major salivary gland cancer' 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_1000355 Malignant Mesothelioma 'Malignant Mesothelioma' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1000352 Malignant Germ Cell Tumor 'Malignant Germ Cell Tumor' SubClassOf 'cancer' 'Malignant Germ Cell Tumor' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_1000366 Mediastinal Malignant Germ Cell Tumor 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'extragonadal germ cell cancer' 'Mediastinal Malignant Germ Cell Tumor' SubClassOf 'extragonadal germ cell cancer' http://www.ebi.ac.uk/efo/EFO_1000364 Mast Cell Sarcoma 'Mast Cell Sarcoma' SubClassOf 'Mastocytosis' 'Mast Cell Sarcoma' SubClassOf 'Mastocytosis' http://www.ebi.ac.uk/efo/EFO_1000379 Minor Salivary Gland Adenocarcinoma 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'minor salivary gland carcinoma' 'Minor Salivary Gland Adenocarcinoma' SubClassOf 'minor salivary gland carcinoma' http://www.ebi.ac.uk/efo/EFO_1000386 Mucinous Gastric Adenocarcinoma 'Mucinous Gastric Adenocarcinoma' SubClassOf 'mucinous carcinoma' 'Mucinous Gastric Adenocarcinoma' SubClassOf 'mucinous carcinoma' http://www.ebi.ac.uk/efo/EFO_1000395 Nevus of Ito 'Nevus of Ito' SubClassOf 'disease shares features of' some 'Nevus of Ota' 'Nevus of Ito' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Nevus of Ota' http://purl.obolibrary.org/obo/MONDO_0800046 thyroid hormone metabolism, abnormal 1 'thyroid hormone metabolism, abnormal 1' SubClassOf 'thyroid hormone metabolism, abnormal' 'thyroid hormone metabolism, abnormal 1' SubClassOf 'thyroid hormone metabolism, abnormal' http://purl.obolibrary.org/obo/MONDO_0800042 restrictive dermopathy 1 'restrictive dermopathy 1' SubClassOf 'restrictive dermopathy' 'restrictive dermopathy 1' SubClassOf 'restrictive dermopathy' http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma 'carcinoma' SubClassOf 'cancer' 'carcinoma' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy 'cardiomyopathy' SubClassOf 'heart disease' 'cardiomyopathy' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf 'leukodystrophy' 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf 'leukodystrophy' http://www.ebi.ac.uk/efo/EFO_0000309 Burkitts lymphoma 'Burkitts lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' 'Burkitts lymphoma' SubClassOf 'aggressive B-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0800025 Teebi hypertelorism syndrome 1 'Teebi hypertelorism syndrome 1' SubClassOf 'Teebi hypertelorism syndrome' 'Teebi hypertelorism syndrome 1' SubClassOf 'Teebi hypertelorism syndrome' http://purl.obolibrary.org/obo/MONDO_0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'autonomic nervous system disease' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'autonomic nervous system disease' http://www.ebi.ac.uk/efo/EFO_0000330 childhood acute myeloid leukemia 'childhood acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' 'childhood acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0000331 chondroblastoma 'chondroblastoma' SubClassOf 'bone benign neoplasm' 'chondroblastoma' SubClassOf 'bone benign neoplasm' http://www.ebi.ac.uk/efo/EFO_1000307 Invasive Breast Carcinoma 'Invasive Breast Carcinoma' SubClassOf 'invasive carcinoma' 'Invasive Breast Carcinoma' SubClassOf 'invasive carcinoma' http://www.ebi.ac.uk/efo/EFO_1000308 Jejunal Neuroendocrine Tumor G1 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' 'Jejunal Neuroendocrine Tumor G1' SubClassOf 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' http://www.ebi.ac.uk/efo/EFO_0000326 central nervous system cancer 'central nervous system cancer' SubClassOf 'Central Nervous System Neoplasm' 'central nervous system cancer' SubClassOf 'Central Nervous System Neoplasm' http://www.ebi.ac.uk/efo/EFO_1000314 Kidney Medullary Carcinoma 'Kidney Medullary Carcinoma' SubClassOf 'renal cell carcinoma' 'Kidney Medullary Carcinoma' SubClassOf 'renal cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000321 Leydig Cell Tumor 'Leydig Cell Tumor' SubClassOf 'sex cord-stromal tumor' 'Leydig Cell Tumor' SubClassOf 'sex cord-stromal tumor' http://www.ebi.ac.uk/efo/EFO_1000328 Low Grade Fibromyxoid Sarcoma 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'fibrosarcoma' 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'fibrosarcoma' http://www.ebi.ac.uk/efo/EFO_1000334 Lung Lymphangioleiomyomatosis 'Lung Lymphangioleiomyomatosis' SubClassOf 'lung PEComa' 'Lung Lymphangioleiomyomatosis' SubClassOf 'lung PEComa' http://www.ebi.ac.uk/efo/EFO_1000335 Lung Papilloma 'Lung Papilloma' SubClassOf 'lung benign neoplasm' 'Lung Papilloma' SubClassOf 'lung benign neoplasm' 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' SubClassOf 'lymph node neoplasm' 'benign neoplasm of lymph node' SubClassOf 'immune system organ benign neoplasm' 'benign neoplasm of lymph node' SubClassOf 'lymph node neoplasm' http://www.ebi.ac.uk/efo/EFO_0000274 atopic eczema 'atopic eczema' SubClassOf 'hereditary skin disorder' http://www.ebi.ac.uk/efo/EFO_0000279 azoospermia 'azoospermia' SubClassOf 'male infertility' 'azoospermia' SubClassOf 'male infertility' 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' SubClassOf 'benign male reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021439 benign neoplasm of pituitary gland 'benign neoplasm of pituitary gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of pituitary gland' SubClassOf 'pituitary tumor' 'benign neoplasm of pituitary gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of pituitary gland' SubClassOf 'pituitary tumor' http://purl.obolibrary.org/obo/MONDO_0021463 benign neoplasm of parathyroid gland 'benign neoplasm of parathyroid gland' SubClassOf 'benign endocrine neoplasm' 'benign neoplasm of parathyroid gland' SubClassOf 'benign endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0021468 benign neoplasm of adrenal medulla 'benign neoplasm of adrenal medulla' SubClassOf 'benign neoplasm of adrenal gland' 'benign neoplasm of adrenal medulla' SubClassOf 'benign neoplasm of adrenal gland' http://purl.obolibrary.org/obo/MONDO_0021458 benign neoplasm of penis 'benign neoplasm of penis' SubClassOf 'benign male reproductive system neoplasm' 'benign neoplasm of penis' SubClassOf 'benign male reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021470 benign neoplasm of pancreas 'benign neoplasm of pancreas' SubClassOf 'benign digestive system neoplasm' 'benign neoplasm of pancreas' SubClassOf 'benign digestive system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000014 acidosis 'acidosis' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Acidosis') 'acidosis' SubClassOf 'disease has major feature' some 'Acidosis' 'acidosis' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Acidosis') 'acidosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Acidosis' http://www.ebi.ac.uk/efo/EFO_1000012 Rienhoff syndrome 'Rienhoff syndrome' SubClassOf 'Loeys-Dietz syndrome' 'Rienhoff syndrome' SubClassOf 'Loeys-Dietz syndrome' http://www.ebi.ac.uk/efo/EFO_1000027 ependymal neoplasm 'ependymal neoplasm' SubClassOf 'glioma' 'ependymal neoplasm' SubClassOf 'glioma' http://www.ebi.ac.uk/efo/EFO_1000028 ependymoma 'ependymoma' SubClassOf 'ependymal neoplasm' 'ependymoma' SubClassOf 'ependymal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000052 sex cord-stromal tumor 'sex cord-stromal tumor' SubClassOf 'reproductive system neoplasm' 'sex cord-stromal tumor' SubClassOf 'reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_1000050 renal leiomyoma 'renal leiomyoma' SubClassOf 'kidney benign neoplasm' 'renal leiomyoma' SubClassOf 'leiomyoma' 'renal leiomyoma' SubClassOf 'kidney benign neoplasm' 'renal leiomyoma' SubClassOf 'leiomyoma' http://www.ebi.ac.uk/efo/EFO_0000650 whooping cough 'whooping cough' SubClassOf 'disease has major feature' some 'Whooping cough' 'whooping cough' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Whooping cough' http://purl.obolibrary.org/obo/MONDO_0011907 acrocapitofemoral dysplasia 'acrocapitofemoral dysplasia' SubClassOf 'acromelic dysplasia' 'acrocapitofemoral dysplasia' SubClassOf 'acromelic dysplasia' http://www.ebi.ac.uk/efo/EFO_0000641 papillary thyroid carcinoma 'papillary thyroid carcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'papillary thyroid carcinoma' SubClassOf 'papillary adenocarcinoma' 'papillary thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_0009029 Central precocious puberty 'Central precocious puberty' SubClassOf 'precocious puberty' 'Central precocious puberty' SubClassOf 'precocious puberty' http://www.ebi.ac.uk/efo/EFO_0000691 sarcoma 'sarcoma' SubClassOf 'cancer' 'sarcoma' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0011933 ALG2-congenital disorder of glycosylation 'ALG2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://www.ebi.ac.uk/efo/EFO_0000694 severe acute respiratory syndrome 'severe acute respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' 'severe acute respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' http://purl.obolibrary.org/obo/MONDO_0011936 microphthalmia with brain and digit anomalies 'microphthalmia with brain and digit anomalies' SubClassOf 'syndromic microphthalmia' 'microphthalmia with brain and digit anomalies' SubClassOf 'syndromic microphthalmia' http://www.ebi.ac.uk/efo/EFO_0000699 Sjogren syndrome 'Sjogren syndrome' SubClassOf 'autoimmune disorder of exocrine system' 'Sjogren syndrome' SubClassOf 'disease shares features of' some 'IgG4-related dacryoadenitis and sialadenitis' 'Sjogren syndrome' SubClassOf 'autoimmune disorder of exocrine system' 'Sjogren syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'IgG4-related dacryoadenitis and sialadenitis' http://purl.obolibrary.org/obo/MONDO_0011948 pontocerebellar hypoplasia type 3 'pontocerebellar hypoplasia type 3' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 3' SubClassOf 'pontocerebellar hypoplasia' http://www.ebi.ac.uk/efo/EFO_0000685 rheumatoid arthritis 'rheumatoid arthritis' SubClassOf 'autoimmune disorder of musculoskeletal system' 'rheumatoid arthritis' SubClassOf 'autoimmune disorder of musculoskeletal system' http://purl.obolibrary.org/obo/MONDO_0011946 diaphanospondylodysostosis 'diaphanospondylodysostosis' SubClassOf 'spondylodysplastic dysplasia' 'diaphanospondylodysostosis' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011959 sweet syndrome 'sweet syndrome' SubClassOf 'skin disease' 'sweet syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0011957 retinal macular dystrophy type 2 'retinal macular dystrophy type 2' SubClassOf 'macular dystrophy, retinal' 'retinal macular dystrophy type 2' SubClassOf 'macular dystrophy, retinal' 'retinal macular dystrophy type 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040053 http://purl.obolibrary.org/obo/MONDO_0011950 infantile-onset autosomal recessive nonprogressive cerebellar ataxia 'infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' 'infantile-onset autosomal recessive nonprogressive cerebellar ataxia' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0011964 DPAGT1-congenital disorder of glycosylation 'DPAGT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'DPAGT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0011968 autosomal recessive limb-girdle muscular dystrophy type 2D 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'qualitative or quantitative defects of alpha-sarcoglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'qualitative or quantitative defects of alpha-sarcoglycan' http://purl.obolibrary.org/obo/MONDO_0011969 ALG8-congenital disorder of glycosylation 'ALG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://www.ebi.ac.uk/efo/EFO_0009041 Cushing syndrome due to macronodular adrenal hyperplasia 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'ACTH-independent Cushing syndrome' 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'ACTH-independent Cushing syndrome' http://www.ebi.ac.uk/efo/EFO_0009043 Familial porphyria cutanea tarda 'Familial porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' 'Familial porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' http://purl.obolibrary.org/obo/MONDO_0021300 adenoid cystic carcinoma of oropharynx 'adenoid cystic carcinoma of oropharynx' SubClassOf 'oropharyngeal carcinoma' 'adenoid cystic carcinoma of oropharynx' SubClassOf 'oropharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0011971 hyper-IgM syndrome type 5 'hyper-IgM syndrome type 5' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome type 5' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0011988 neutrophil immunodeficiency syndrome 'neutrophil immunodeficiency syndrome' SubClassOf 'functional neutrophil defect' 'neutrophil immunodeficiency syndrome' SubClassOf 'functional neutrophil defect' http://purl.obolibrary.org/obo/MONDO_0011985 hyper-IgM syndrome type 4 'hyper-IgM syndrome type 4' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome type 4' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0021312 malignant tumor of adrenal cortex 'malignant tumor of adrenal cortex' SubClassOf 'adrenal cortex neoplasm' 'malignant tumor of adrenal cortex' SubClassOf 'adrenal cortex neoplasm' http://purl.obolibrary.org/obo/MONDO_0021315 malignant tumor of nasopharynx 'malignant tumor of nasopharynx' SubClassOf 'pharynx cancer' 'malignant tumor of nasopharynx' SubClassOf 'pharynx cancer' http://purl.obolibrary.org/obo/MONDO_0021316 malignant tumor of minor salivary gland 'malignant tumor of minor salivary gland' SubClassOf 'salivary gland cancer' 'malignant tumor of minor salivary gland' SubClassOf 'salivary gland cancer' http://purl.obolibrary.org/obo/MONDO_0021348 neoplasm of testis 'neoplasm of testis' SubClassOf 'male reproductive system neoplasm' 'neoplasm of testis' SubClassOf 'male reproductive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021337 tonsil carcinoma 'tonsil carcinoma' SubClassOf 'oropharyngeal carcinoma' 'tonsil carcinoma' SubClassOf 'oropharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0021355 neoplasm of esophagus 'neoplasm of esophagus' SubClassOf 'esophageal disease' 'neoplasm of esophagus' SubClassOf 'esophageal disease' http://www.ebi.ac.uk/efo/EFO_1000102 B-Cell Prolymphocytic Leukemia 'B-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' 'B-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' http://www.ebi.ac.uk/efo/EFO_1000150 Cardiac Rhabdomyoma 'Cardiac Rhabdomyoma' SubClassOf 'rhabdomyoma' 'Cardiac Rhabdomyoma' SubClassOf 'rhabdomyoma' http://www.ebi.ac.uk/efo/EFO_1000157 Central Nervous System Lymphoma 'Central Nervous System Lymphoma' SubClassOf 'primary organ-specific lymphoma' 'Central Nervous System Lymphoma' SubClassOf 'primary organ-specific lymphoma' http://www.ebi.ac.uk/efo/EFO_1000172 cervical squamous cell carcinoma 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'cervical squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0000501 follicular thyroid carcinoma 'follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' 'follicular thyroid carcinoma' SubClassOf 'differentiated thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_0000555 irritable bowel syndrome 'irritable bowel syndrome' SubClassOf 'intestinal disease' 'irritable bowel syndrome' SubClassOf 'intestinal disease' http://www.ebi.ac.uk/efo/EFO_0000557 juvenile dermatomyositis 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' 'juvenile dermatomyositis' SubClassOf 'dermatomyositis' http://www.ebi.ac.uk/efo/EFO_0000558 Kaposi's sarcoma 'Kaposi's sarcoma' SubClassOf 'viral disease' 'Kaposi's sarcoma' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0011812 Duane-radial ray syndrome 'Duane-radial ray syndrome' SubClassOf 'syndromic disease' 'Duane-radial ray syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011817 coronary heart disease, susceptibility to, 1 'coronary heart disease, susceptibility to, 1' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary heart disease, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0011814 Smith-McCort dysplasia 1 'Smith-McCort dysplasia 1' SubClassOf 'Smith-McCort dysplasia' 'Smith-McCort dysplasia 1' SubClassOf 'Smith-McCort dysplasia' http://purl.obolibrary.org/obo/MONDO_0011829 coenzyme Q10 deficiency, primary, 1 'coenzyme Q10 deficiency, primary, 1' SubClassOf 'coenzyme Q10 deficiency' 'coenzyme Q10 deficiency, primary, 1' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0011837 vitamin K-dependent clotting factors, combined deficiency of, type 2 'vitamin K-dependent clotting factors, combined deficiency of, type 2' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' 'vitamin K-dependent clotting factors, combined deficiency of, type 2' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' http://www.ebi.ac.uk/efo/EFO_0000580 medullary breast carcinoma 'medullary breast carcinoma' SubClassOf 'invasive breast ductal carcinoma' 'medullary breast carcinoma' SubClassOf 'invasive breast ductal carcinoma' http://purl.obolibrary.org/obo/MONDO_0011843 hypertrophic cardiomyopathy 25 'hypertrophic cardiomyopathy 25' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 25' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011847 migraine without aura, susceptibility to, 4 'migraine without aura, susceptibility to, 4' SubClassOf 'migraine with or without aura, susceptibility to' 'migraine without aura, susceptibility to, 4' SubClassOf 'predisposes towards' some 'migraine without aura' 'migraine without aura, susceptibility to, 4' SubClassOf 'migraine with or without aura, susceptibility to' 'migraine without aura, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'migraine without aura' http://purl.obolibrary.org/obo/MONDO_0011841 biotin-responsive basal ganglia disease 'biotin-responsive basal ganglia disease' SubClassOf 'disease responds to' some 'biotin' 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and ('disease responds to' some 'biotin') 'biotin-responsive basal ganglia disease' EquivalentTo 'basal ganglia disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'biotin') 'biotin-responsive basal ganglia disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'biotin' http://purl.obolibrary.org/obo/MONDO_0011856 spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome 'spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome' SubClassOf 'spondylometaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0000499 follicular thyroid adenoma 'follicular thyroid adenoma' SubClassOf 'adenoma' 'follicular thyroid adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0011852 nonsyndromic congenital nail disorder 8 'nonsyndromic congenital nail disorder 8' SubClassOf 'inherited isolated nail anomaly' 'nonsyndromic congenital nail disorder 8' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0011869 epidermolysis bullosa simplex superficialis 'epidermolysis bullosa simplex superficialis' SubClassOf 'suprabasal epidermolysis bullosa simplex' 'epidermolysis bullosa simplex superficialis' SubClassOf 'suprabasal epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0011877 autosomal dominant osteopetrosis 1 'autosomal dominant osteopetrosis 1' SubClassOf 'autosomal dominant osteopetrosis' 'autosomal dominant osteopetrosis 1' SubClassOf 'autosomal dominant osteopetrosis' 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' 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf 'epilepsy, juvenile absence, susceptibility to' 'epilepsy, idiopathic generalized, susceptibility to, 11' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0021204 chronic otitis media 'chronic otitis media' SubClassOf 'Otitis media' 'chronic otitis media' SubClassOf 'Otitis media' http://purl.obolibrary.org/obo/MONDO_0011881 keratosis palmoplantaris striata 3 'keratosis palmoplantaris striata 3' SubClassOf 'striate palmoplantar keratoderma' 'keratosis palmoplantaris striata 3' SubClassOf 'striate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0021221 vestibulocochlear nerve neoplasm 'vestibulocochlear nerve neoplasm' SubClassOf 'vestibulocochlear nerve disorder' 'vestibulocochlear nerve neoplasm' SubClassOf 'vestibulocochlear nerve disorder' http://purl.obolibrary.org/obo/MONDO_0021224 iris neoplasm 'iris neoplasm' SubClassOf 'iris disorder' 'iris neoplasm' SubClassOf 'iris disorder' 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 http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf 'leukodystrophy' 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700282 'leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700276 http://purl.obolibrary.org/obo/MONDO_0021230 uterine cervix neoplasm 'uterine cervix neoplasm' SubClassOf 'cervix disorder' 'uterine cervix neoplasm' SubClassOf 'cervix disorder' http://purl.obolibrary.org/obo/MONDO_0021235 external ear neoplasm 'external ear neoplasm' SubClassOf 'external ear disease' 'external ear neoplasm' SubClassOf 'external ear disease' http://www.ebi.ac.uk/efo/EFO_1000067 ACTH-Producing Pituitary Gland Carcinoma 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'pituitary adenocarcinoma' 'ACTH-Producing Pituitary Gland Carcinoma' SubClassOf 'pituitary adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000064 Acinar Prostate Adenocarcinoma, Foamy Gland Variant 'Acinar Prostate Adenocarcinoma, Foamy Gland Variant' SubClassOf 'prostatic acinar adenocarcinoma' 'Acinar Prostate Adenocarcinoma, Foamy Gland Variant' SubClassOf 'prostatic acinar adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_1000065 Acinar Prostate Mucinous Adenocarcinoma 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'prostatic acinar adenocarcinoma' 'Acinar Prostate Mucinous Adenocarcinoma' SubClassOf 'prostatic acinar adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0021251 endometrium neoplasm 'endometrium neoplasm' SubClassOf 'endometrial disorder' 'endometrium neoplasm' SubClassOf 'endometrial disorder' http://purl.obolibrary.org/obo/MONDO_0021289 carcinoma in situ of cecum 'carcinoma in situ of cecum' SubClassOf 'colon carcinoma in situ' 'carcinoma in situ of cecum' SubClassOf 'colon carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0021283 malignant teratoma of mediastinum 'malignant teratoma of mediastinum' SubClassOf 'mediastinum teratoma' 'malignant teratoma of mediastinum' SubClassOf 'mediastinum teratoma' http://purl.obolibrary.org/obo/MONDO_0021273 leiomyoma of ciliary body 'leiomyoma of ciliary body' SubClassOf 'benign neoplasm of ciliary body' 'leiomyoma of ciliary body' SubClassOf 'benign neoplasm of ciliary body' http://purl.obolibrary.org/obo/MONDO_0021097 intraductal breast papilloma 'intraductal breast papilloma' SubClassOf 'breast benign neoplasm' 'intraductal breast papilloma' SubClassOf 'breast benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0800372 Joubert syndrome 29 'Joubert syndrome 29' SubClassOf 'Joubert syndrome' 'Joubert syndrome 29' SubClassOf 'Joubert syndrome' http://www.ebi.ac.uk/efo/EFO_0009266 refractory celiac disease 'refractory celiac disease' SubClassOf 'disease shares features of' some 'celiac disease' 'refractory celiac disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'celiac disease' http://www.ebi.ac.uk/efo/EFO_0009255 cecal neoplasm 'cecal neoplasm' SubClassOf 'cecal disorder' 'cecal neoplasm' SubClassOf 'cecal disorder' http://purl.obolibrary.org/obo/MONDO_0011724 encephalopathy due to GLUT1 deficiency 'encephalopathy due to GLUT1 deficiency' SubClassOf 'GLUT1 deficiency syndrome' 'encephalopathy due to GLUT1 deficiency' SubClassOf 'GLUT1 deficiency syndrome' 'encephalopathy due to GLUT1 deficiency' SubClassOf 'glucose transport disorder' http://purl.obolibrary.org/obo/MONDO_0011725 Crigler-Najjar syndrome type 2 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' 'Crigler-Najjar syndrome type 2' SubClassOf 'Crigler-Najjar syndrome' http://purl.obolibrary.org/obo/MONDO_0011720 spermatogenic failure 3 'spermatogenic failure 3' SubClassOf 'azoospermia' 'spermatogenic failure 3' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0011721 distal myopathy with anterior tibial onset 'distal myopathy with anterior tibial onset' SubClassOf 'distal myopathy' 'distal myopathy with anterior tibial onset' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0011735 hyper-IgM syndrome type 3 'hyper-IgM syndrome type 3' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome type 3' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0011738 bilateral frontoparietal polymicrogyria 'bilateral frontoparietal polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral frontoparietal polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0800414 aplastic anemia, susceptibility to 'aplastic anemia, susceptibility to' SubClassOf 'predisposes towards' some 'aplastic anemia' 'aplastic anemia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0011758 Hurler syndrome 'Hurler syndrome' SubClassOf 'mucopolysaccharidosis type 1' 'Hurler syndrome' SubClassOf 'mucopolysaccharidosis type 1' http://purl.obolibrary.org/obo/MONDO_0011759 Hurler-Scheie syndrome 'Hurler-Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' 'Hurler-Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' http://purl.obolibrary.org/obo/MONDO_0800438 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 'developmental delay with short stature, dysmorphic facial features, and sparse hair 1' SubClassOf 'developmental delay with short stature, dysmorphic facial features, and sparse hair' 'developmental delay with short stature, dysmorphic facial features, and sparse hair 1' SubClassOf 'developmental delay with short stature, dysmorphic facial features, and sparse hair' http://purl.obolibrary.org/obo/MONDO_0011760 Scheie syndrome 'Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' 'Scheie syndrome' SubClassOf 'mucopolysaccharidosis type 1' http://purl.obolibrary.org/obo/MONDO_0011765 multiple epiphyseal dysplasia type 5 'multiple epiphyseal dysplasia type 5' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 5' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800421 cardiomyopathy, familial hypertrophic, 4, susceptibility to 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf 'predisposes towards' some 'hypertrophic cardiomyopathy' 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0800425 coronary artery disease, severe, susceptibility to 'coronary artery disease, severe, susceptibility to' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary artery disease, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0011778 multiple epiphyseal dysplasia, Al-Gazali type 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, Al-Gazali type' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011771 neuronopathy, distal hereditary motor, autosomal recessive 3 'neuronopathy, distal hereditary motor, autosomal recessive 3' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 3' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0011772 B4GALT1-congenital disorder of glycosylation 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'B4GALT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'B4GALT1-congenital disorder of glycosylation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0011775 nasopharyngeal carcinoma, susceptibility to, 1 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'nasopharyngeal carcinoma' 'nasopharyngeal carcinoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'nasopharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0021107 narcolepsy 'narcolepsy' SubClassOf 'sleep-wake disorder' 'narcolepsy' SubClassOf 'sleep-wake disorder' http://purl.obolibrary.org/obo/MONDO_0021109 inverted urothelial papilloma 'inverted urothelial papilloma' SubClassOf 'inverted transitional cell papilloma' 'inverted urothelial papilloma' SubClassOf 'inverted transitional cell papilloma' http://purl.obolibrary.org/obo/MONDO_0011789 familial meningioma 'familial meningioma' SubClassOf 'meningioma' 'familial meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0011783 ALG12-congenital disorder of glycosylation 'ALG12-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG12-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0021117 lung neoplasm 'lung neoplasm' SubClassOf 'respiratory system neoplasm' 'lung neoplasm' SubClassOf 'respiratory system neoplasm' http://purl.obolibrary.org/obo/MONDO_0021135 rare or common 'rare or common' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0021136 rare 'rare' SubClassOf 'rare or common' http://purl.obolibrary.org/obo/MONDO_0021137 not rare 'not rare' SubClassOf 'rare or common' http://purl.obolibrary.org/obo/MONDO_0021187 hyperlipidemia 'hyperlipidemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipidemia') 'hyperlipidemia' SubClassOf 'disease has major feature' some 'Hyperlipidemia' 'hyperlipidemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipidemia') 'hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipidemia' http://purl.obolibrary.org/obo/GO_0009450 gamma-aminobutyric acid catabolic process 'gamma-aminobutyric acid catabolic process' SubClassOf 'organonitrogen compound metabolic process' http://www.ebi.ac.uk/efo/EFO_0000712 stroke 'stroke' SubClassOf 'disease has major feature' some 'Stroke' 'stroke' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Stroke' http://www.ebi.ac.uk/efo/EFO_0000759 lipoma 'lipoma' SubClassOf 'benign lipomatous neoplasm' 'lipoma' SubClassOf 'benign lipomatous neoplasm' http://www.ebi.ac.uk/efo/EFO_0000773 temporal lobe epilepsy 'temporal lobe epilepsy' SubClassOf 'familial partial epilepsy' 'temporal lobe epilepsy' SubClassOf 'familial partial epilepsy' http://www.ebi.ac.uk/efo/EFO_0000762 hepatocellular adenoma 'hepatocellular adenoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'hepatocellular adenoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://www.ebi.ac.uk/efo/EFO_0000780 Enterococcus faecalis infection 'Enterococcus faecalis infection' SubClassOf 'bacterial disease' 'Enterococcus faecalis infection' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040019 http://purl.obolibrary.org/obo/MONDO_0800453 juvenile absence epilepsy 'juvenile absence epilepsy' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' http://purl.obolibrary.org/obo/MONDO_0800447 bleeding disorder, platelet-type, 13, susceptibility to 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf 'predisposes towards' some 'bleeding diathesis due to thromboxane synthesis deficiency' 'bleeding disorder, platelet-type, 13, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'bleeding diathesis due to thromboxane synthesis deficiency' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'primary ciliary dyskinesia' 'stromme syndrome' SubClassOf 'primary ciliary dyskinesia' http://www.ebi.ac.uk/efo/EFO_0009071 malignant hyperthermia, susceptibility to, 1 'malignant hyperthermia, susceptibility to, 1' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' 'malignant hyperthermia, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant hyperthermia of anesthesia' http://purl.obolibrary.org/obo/MONDO_0011624 transaldolase deficiency 'transaldolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'transaldolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0011629 MOGS-congenital disorder of glycosylation 'MOGS-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'MOGS-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://www.ebi.ac.uk/efo/EFO_0009064 X-linked erythropoietic protoporphyria 'X-linked erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' 'X-linked erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' http://purl.obolibrary.org/obo/MONDO_0011650 atrioventricular septal defect, susceptibility to, 2 'atrioventricular septal defect, susceptibility to, 2' SubClassOf 'predisposes towards' some 'familial atrioventricular septal defect' 'atrioventricular septal defect, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'familial atrioventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0011652 Phelan-McDermid syndrome 'Phelan-McDermid syndrome' SubClassOf 'chromosome 22q deletion' 'Phelan-McDermid syndrome' SubClassOf 'genetic disorder' 'Phelan-McDermid syndrome' SubClassOf 'syndromic disease' 'Phelan-McDermid syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome 'hypotonia-cystinuria syndrome' SubClassOf 'inborn disorder of amino acid transport' 'hypotonia-cystinuria syndrome' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0011664 immunodeficiency due to CD25 deficiency 'immunodeficiency due to CD25 deficiency' SubClassOf 'immunodeficiency disease' 'immunodeficiency due to CD25 deficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0021005 faciodigitogenital syndrome 'faciodigitogenital syndrome' SubClassOf 'syndromic disease' 'faciodigitogenital syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome due to tenascin-X deficiency' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0011676 PHACE syndrome 'PHACE syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'PHACE syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0021009 salivary gland mucoepidermoid carcinoma 'salivary gland mucoepidermoid carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland mucoepidermoid carcinoma' SubClassOf 'salivary gland carcinoma' http://purl.obolibrary.org/obo/MONDO_0011683 oculocutaneous albinism type 4 'oculocutaneous albinism type 4' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 4' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0011684 vitiligo-associated multiple autoimmune disease susceptibility 1 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf 'predisposes towards' some 'type II hypersensitivity reaction disease' 'vitiligo-associated multiple autoimmune disease susceptibility 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0011681 episodic ataxia type 4 'episodic ataxia type 4' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 4' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0011688 muscular dystrophy-dystroglycanopathy type B5 'muscular dystrophy-dystroglycanopathy type B5' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy type B5' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0011685 polysubstance abuse, susceptibility to 'polysubstance abuse, susceptibility to' SubClassOf 'predisposes towards' some 'drug dependence' 'polysubstance abuse, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'drug dependence' http://purl.obolibrary.org/obo/MONDO_0021020 Crigler-Najjar syndrome type 1 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' 'Crigler-Najjar syndrome type 1' SubClassOf 'Crigler-Najjar syndrome' http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia 'hereditary hyperekplexia' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' 'hereditary hyperekplexia' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' http://purl.obolibrary.org/obo/MONDO_0021023 complete androgen insensitivity syndrome 'complete androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' 'complete androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0021024 malaria, susceptibility to 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malaria') 'malaria, susceptibility to' SubClassOf 'predisposes towards' some 'malaria' 'malaria, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malaria' 'malaria, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malaria') http://purl.obolibrary.org/obo/MONDO_0060631 Alkuraya-Kucinskas syndrome 'Alkuraya-Kucinskas syndrome' SubClassOf 'syndromic disease' 'Alkuraya-Kucinskas syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0021019 X-linked recessive ocular albinism 'X-linked recessive ocular albinism' SubClassOf 'ocular albinism' 'X-linked recessive ocular albinism' SubClassOf 'ocular albinism' http://purl.obolibrary.org/obo/MONDO_0060627 glycosylphosphatidylinositol biosynthesis defect 15 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0021048 benign mastocytoma 'benign mastocytoma' SubClassOf 'benign neoplasm' 'benign mastocytoma' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0021066 urinary system neoplasm 'urinary system neoplasm' SubClassOf 'urinary system disease' 'urinary system neoplasm' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm 'malignant endocrine neoplasm' SubClassOf 'cancer' 'malignant endocrine neoplasm' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0021054 bone sarcoma 'bone sarcoma' SubClassOf 'Malignant Bone Neoplasm' 'bone sarcoma' SubClassOf 'Malignant Bone Neoplasm' http://purl.obolibrary.org/obo/MONDO_0021056 familial adenomatous polyposis 1 'familial adenomatous polyposis 1' SubClassOf 'classic familial adenomatous polyposis' 'familial adenomatous polyposis 1' SubClassOf 'classic familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome 'neoplastic syndrome' SubClassOf 'disease has major feature' some 'neoplasm' 'neoplastic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'neoplasm') 'neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'neoplasm' 'neoplastic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'neoplasm') http://purl.obolibrary.org/obo/MONDO_0045047 neurosarcoidosis 'neurosarcoidosis' SubClassOf 'sarcoidosis' 'neurosarcoidosis' SubClassOf 'sarcoidosis' http://purl.obolibrary.org/obo/MONDO_0021086 gingival neoplasm 'gingival neoplasm' SubClassOf 'gingival disease' 'gingival neoplasm' SubClassOf 'gingival disease' http://purl.obolibrary.org/obo/MONDO_0045023 acquired adrenogenital syndrome 'acquired adrenogenital syndrome' SubClassOf 'adrenogenital syndrome' 'acquired adrenogenital syndrome' SubClassOf 'adrenogenital syndrome' http://purl.obolibrary.org/obo/GO_0009235 cobalamin metabolic process 'cobalamin metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0800174 encephalitis, acute, infection-induced, susceptibility to 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'encephalopathy, acute, infection-induced') 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf 'predisposes towards' some 'encephalopathy, acute, infection-induced' 'encephalitis, acute, infection-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'encephalopathy, acute, infection-induced') 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'encephalopathy, acute, infection-induced' http://www.ebi.ac.uk/efo/EFO_0009430 neuralgia 'neuralgia' EquivalentTo 'peripheral neuropathy' and ('disease has major feature' some 'Pain') 'neuralgia' EquivalentTo 'peripheral neuropathy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Pain') http://purl.obolibrary.org/obo/MONDO_0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant 'hyper-IgE recurrent infection syndrome 4A, autosomal dominant' SubClassOf 'hyper-IgE syndrome' 'hyper-IgE recurrent infection syndrome 4A, autosomal dominant' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0800153 urea cycle disorder or inherited hyperammonemia 'urea cycle disorder or inherited hyperammonemia' SubClassOf 'disease has major feature' some 'Hyperammonemia' 'urea cycle disorder or inherited hyperammonemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperammonemia' http://purl.obolibrary.org/obo/MONDO_0011528 hyper-IgM syndrome type 2 'hyper-IgM syndrome type 2' SubClassOf 'autosomal recessive disease' 'hyper-IgM syndrome type 2' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome type 2' SubClassOf 'autosomal recessive disease' 'hyper-IgM syndrome type 2' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0011533 temtamy preaxial brachydactyly syndrome 'temtamy preaxial brachydactyly syndrome' SubClassOf 'syndromic disease' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0035525 blepharophimosis-ptosis-epicanthus inversus syndrome type 2 'blepharophimosis-ptosis-epicanthus inversus syndrome type 2' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' 'blepharophimosis-ptosis-epicanthus inversus syndrome type 2' SubClassOf 'blepharophimosis, ptosis, and epicanthus inversus syndrome' http://purl.obolibrary.org/obo/MONDO_0011577 myopathy, proximal, and ophthalmoplegia 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'congenital myopathy' 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0011576 familial hyperaldosteronism type II 'familial hyperaldosteronism type II' SubClassOf 'familial hyperaldosteronism' 'familial hyperaldosteronism type II' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0011585 autosomal recessive distal spinal muscular atrophy 2 'autosomal recessive distal spinal muscular atrophy 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'autosomal recessive distal spinal muscular atrophy 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0011582 multiple mitochondrial dysfunctions syndrome 1 'multiple mitochondrial dysfunctions syndrome 1' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 1' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0011581 arrhythmogenic cardiomyopathy with wooly hair and keratoderma 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Woolly hair' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf 'disease has major feature' some 'Palmoplantar keratoderma' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Woolly hair' 'arrhythmogenic cardiomyopathy with wooly hair and keratoderma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0011595 nonsyndromic congenital nail disorder 7 'nonsyndromic congenital nail disorder 7' SubClassOf 'inherited isolated nail anomaly' 'nonsyndromic congenital nail disorder 7' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0060554 vertebral, cardiac, renal, and limb defects syndrome 1 'vertebral, cardiac, renal, and limb defects syndrome 1' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome' 'vertebral, cardiac, renal, and limb defects syndrome 1' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome' http://purl.obolibrary.org/obo/MONDO_0060555 vertebral, cardiac, renal, and limb defects syndrome 2 'vertebral, cardiac, renal, and limb defects syndrome 2' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome' 'vertebral, cardiac, renal, and limb defects syndrome 2' SubClassOf 'congenital vertebral-cardiac-renal anomalies syndrome' http://purl.obolibrary.org/obo/GO_0009101 glycoprotein biosynthetic process 'glycoprotein biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' http://purl.obolibrary.org/obo/GO_0009116 nucleoside metabolic process 'nucleoside metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://www.ebi.ac.uk/efo/EFO_0009322 proliferative diabetic retinopathy 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy' 'proliferative diabetic retinopathy' SubClassOf 'diabetic retinopathy' http://purl.obolibrary.org/obo/GO_0009163 nucleoside biosynthetic process 'nucleoside biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' http://www.ebi.ac.uk/efo/EFO_0009297 fg syndrome 'fg syndrome' SubClassOf 'syndromic disease' 'fg syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011414 Peters anomaly 'Peters anomaly' SubClassOf 'anterior segment dysgenesis' 'Peters anomaly' SubClassOf 'anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0011412 familial encephalopathy with neuroserpin inclusion bodies 'familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'progressive myoclonus epilepsy' 'familial encephalopathy with neuroserpin inclusion bodies' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0011424 Carney triad 'Carney triad' SubClassOf 'multiple polyglandular tumor' 'Carney triad' SubClassOf 'multiple polyglandular tumor' http://purl.obolibrary.org/obo/MONDO_0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0011436 autosomal recessive distal spinal muscular atrophy 1 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'autosomal recessive distal spinal muscular atrophy 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0011430 pulverulent cataract 'pulverulent cataract' SubClassOf 'early-onset non-syndromic cataract' 'pulverulent cataract' SubClassOf 'early-onset non-syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0011448 PPARG-related familial partial lipodystrophy 'PPARG-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'PPARG-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0011450 breast-ovarian cancer, familial, susceptibility to, 1 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hereditary breast ovarian cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 'cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1' SubClassOf 'fatal infantile encephalocardiomyopathy' 'cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1' SubClassOf 'fatal infantile encephalocardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011461 generalized epilepsy with febrile seizures plus, type 2 'generalized epilepsy with febrile seizures plus, type 2' SubClassOf 'generalized epilepsy with febrile seizures plus' 'generalized epilepsy with febrile seizures plus, type 2' SubClassOf 'generalized epilepsy with febrile seizures plus' http://purl.obolibrary.org/obo/MONDO_0011476 MHC class I deficiency 'MHC class I deficiency' SubClassOf 'combined immunodeficiency' 'MHC class I deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011493 Stickler syndrome type 2 'Stickler syndrome type 2' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 2' SubClassOf 'Stickler syndrome' http://purl.obolibrary.org/obo/MONDO_0006788 obsolete hydrophthalmos 'obsolete hydrophthalmos' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/GO_0009066 aspartate family amino 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 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/GO_0009081 branched-chain amino acid metabolic process 'branched-chain amino acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0016120 myotonic syndrome 'myotonic syndrome' SubClassOf 'disease has major feature' some 'Myotonia' 'myotonic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Myotonia') 'myotonic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Myotonia') 'myotonic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Myotonia' http://purl.obolibrary.org/obo/MONDO_0016158 narcolepsy-cataplexy syndrome 'narcolepsy-cataplexy syndrome' SubClassOf 'narcolepsy' 'narcolepsy-cataplexy syndrome' SubClassOf 'narcolepsy' http://purl.obolibrary.org/obo/MONDO_0016162 bilateral frontal polymicrogyria 'bilateral frontal polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral frontal polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0016163 autosomal dominant cerebellar ataxia type II 'autosomal dominant cerebellar ataxia type II' SubClassOf 'autosomal dominant cerebellar ataxia' 'autosomal dominant cerebellar ataxia type II' SubClassOf 'autosomal dominant cerebellar ataxia' http://www.ebi.ac.uk/efo/EFO_0004799 cholelithiasis 'cholelithiasis' SubClassOf 'hereditary gallbladder disorder' 'cholelithiasis' SubClassOf 'hereditary gallbladder disorder' http://purl.obolibrary.org/obo/MONDO_0016009 fetal trimethadione syndrome 'fetal trimethadione syndrome' SubClassOf 'toxic or drug-related embryofetopathy' 'fetal trimethadione syndrome' SubClassOf 'toxic or drug-related embryofetopathy' http://purl.obolibrary.org/obo/MONDO_0016006 Cockayne syndrome 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' 'Cockayne syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0016002 Ehlers-Danlos syndrome, kyphoscoliotic type 1 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'autosomal recessive disease' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'autosomal recessive disease' 'Ehlers-Danlos syndrome, kyphoscoliotic type 1' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'syndromic disease' 'Cornelia de Lange syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016030 Evans syndrome 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'Evans syndrome' SubClassOf 'Anemia, Hemolytic, Autoimmune' http://www.ebi.ac.uk/efo/EFO_0004719 pemphigus vulgaris 'pemphigus vulgaris' SubClassOf 'pemphigus' 'pemphigus vulgaris' SubClassOf 'pemphigus' http://purl.obolibrary.org/obo/MONDO_0016044 cleft lip/palate 'cleft lip/palate' SubClassOf 'disorder of development or morphogenesis' 'cleft lip/palate' SubClassOf 'disorder of development or morphogenesis' http://www.ebi.ac.uk/efo/EFO_0004708 nodular sclerosis Hodgkin lymphoma 'nodular sclerosis Hodgkin lymphoma' SubClassOf 'classic Hodgkin lymphoma' 'nodular sclerosis Hodgkin lymphoma' SubClassOf 'classic Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0016073 syndromic microphthalmia 'syndromic microphthalmia' SubClassOf 'microphthalmia' 'syndromic microphthalmia' SubClassOf 'microphthalmia' http://purl.obolibrary.org/obo/MONDO_0016091 adult Krabbe disease 'adult Krabbe disease' SubClassOf 'Krabbe disease' 'adult Krabbe disease' SubClassOf 'Krabbe disease' http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0016089 infantile Krabbe disease 'infantile Krabbe disease' SubClassOf 'Krabbe disease' 'infantile Krabbe disease' SubClassOf 'Krabbe disease' http://purl.obolibrary.org/obo/MONDO_0016095 vaginal rhabdomyosarcoma 'vaginal rhabdomyosarcoma' SubClassOf 'vagina sarcoma' 'vaginal rhabdomyosarcoma' SubClassOf 'vagina sarcoma' http://www.ebi.ac.uk/efo/EFO_1000885 cutaneous fibrous histiocytoma 'cutaneous fibrous histiocytoma' SubClassOf 'benign fibrous histiocytoma' 'cutaneous fibrous histiocytoma' SubClassOf 'benign fibrous histiocytoma' http://www.ebi.ac.uk/efo/EFO_1000888 cystic lymphangioma 'cystic lymphangioma' SubClassOf 'lymphangioma' 'cystic lymphangioma' SubClassOf 'epithelial neoplasm' 'cystic lymphangioma' SubClassOf 'lymphangioma' http://www.ebi.ac.uk/efo/EFO_1000886 cutaneous mastocytosis 'cutaneous mastocytosis' SubClassOf 'Mastocytosis' 'cutaneous mastocytosis' SubClassOf 'Mastocytosis' http://www.ebi.ac.uk/efo/EFO_1000895 desmoplastic small round cell tumor 'desmoplastic small round cell tumor' SubClassOf 'small cell sarcoma' 'desmoplastic small round cell tumor' SubClassOf 'small cell sarcoma' http://www.ebi.ac.uk/efo/EFO_1000800 alcohol withdrawal delirium 'alcohol withdrawal delirium' SubClassOf 'disease has major feature' some 'Delirium' 'alcohol withdrawal delirium' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Delirium' http://www.ebi.ac.uk/efo/EFO_1000810 anterior spinal artery syndrome 'anterior spinal artery syndrome' SubClassOf 'arterial disorder' 'anterior spinal artery syndrome' SubClassOf 'syndromic disease' 'anterior spinal artery syndrome' SubClassOf 'arterial disorder' 'anterior spinal artery syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000818 arcus senilis 'arcus senilis' SubClassOf 'corneal degeneration' 'arcus senilis' SubClassOf 'corneal degeneration' http://www.ebi.ac.uk/efo/EFO_1000829 bacterial conjunctivitis 'bacterial conjunctivitis' SubClassOf 'bacterial disease' 'bacterial conjunctivitis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1000830 bacterial endocarditis 'bacterial endocarditis' SubClassOf 'infective endocarditis' 'bacterial endocarditis' SubClassOf 'infective endocarditis' http://www.ebi.ac.uk/efo/EFO_1000831 bacterial meningitis 'bacterial meningitis' SubClassOf 'bacterial disease' 'bacterial meningitis' SubClassOf 'bacterial disease' http://www.ebi.ac.uk/efo/EFO_1000839 bladder calculus 'bladder calculus' SubClassOf 'bladder disease' 'bladder calculus' SubClassOf 'bladder disease' http://www.ebi.ac.uk/efo/EFO_0004911 familial hypercholesterolemia 'familial hypercholesterolemia' SubClassOf 'familial hyperlipidemia' 'familial hypercholesterolemia' SubClassOf 'familial hyperlipidemia' http://www.ebi.ac.uk/efo/EFO_1000934 eyelid neoplasm 'eyelid neoplasm' SubClassOf 'eyelid disease' 'eyelid neoplasm' SubClassOf 'eyelid disease' http://www.ebi.ac.uk/efo/EFO_1000946 gastric mucosal hypertrophy 'gastric mucosal hypertrophy' SubClassOf 'gastritis' 'gastric mucosal hypertrophy' SubClassOf 'gastritis' http://www.ebi.ac.uk/efo/EFO_1000942 fungal meningitis 'fungal meningitis' SubClassOf 'fungal infectious disease' 'fungal meningitis' SubClassOf 'fungal infectious disease' http://www.ebi.ac.uk/efo/EFO_1000979 hypothalamic neoplasm 'hypothalamic neoplasm' SubClassOf 'hypothalamic disorder' 'hypothalamic neoplasm' SubClassOf 'hypothalamic disorder' http://www.ebi.ac.uk/efo/EFO_1000620 Vaginal Squamous Cell Carcinoma 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal squamous tumor' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal carcinoma' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'vaginal squamous tumor' 'Vaginal Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_1000632 cerebral palsy 'cerebral palsy' SubClassOf 'palsy' 'cerebral palsy' SubClassOf 'palsy' http://www.ebi.ac.uk/efo/EFO_1000630 marginal zone B-cell lymphoma 'marginal zone B-cell lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' 'marginal zone B-cell lymphoma' SubClassOf 'indolent B-cell non-Hodgkin lymphoma' http://www.ebi.ac.uk/efo/EFO_1000635 hemangioma 'hemangioma' SubClassOf 'benign epithelial neoplasm' 'hemangioma' SubClassOf 'epithelial neoplasm' http://www.ebi.ac.uk/efo/EFO_1000641 congenital nonspherocytic hemolytic anemia 'congenital nonspherocytic hemolytic anemia' SubClassOf 'familial hemolytic anemia' 'congenital nonspherocytic hemolytic anemia' SubClassOf 'familial hemolytic anemia' http://www.ebi.ac.uk/efo/EFO_1000648 developmental dysplasia of the hip 'developmental dysplasia of the hip' SubClassOf 'disease has major feature' some 'Abnormal hip joint morphology' 'developmental dysplasia of the hip' SubClassOf 'bone development disease' 'developmental dysplasia of the hip' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal hip joint morphology' 'developmental dysplasia of the hip' SubClassOf 'bone development disease' http://www.ebi.ac.uk/efo/EFO_1000670 anhidrosis 'anhidrosis' SubClassOf 'disease has major feature' some 'Anhidrosis' 'anhidrosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Anhidrosis' http://www.ebi.ac.uk/efo/EFO_1000678 cholesteatoma of middle ear 'cholesteatoma of middle ear' SubClassOf 'middle ear disorder' 'cholesteatoma of middle ear' SubClassOf 'middle ear disorder' http://purl.obolibrary.org/obo/MONDO_0031329 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 'craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome' SubClassOf 'syndromic disease' 'craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000681 congenital generalized lipodystrophy 'congenital generalized lipodystrophy' SubClassOf 'generalized lipodystrophy' 'congenital generalized lipodystrophy' SubClassOf 'generalized lipodystrophy' http://www.ebi.ac.uk/efo/EFO_1000746 panniculitis 'panniculitis' SubClassOf 'connective tissue disease' 'panniculitis' SubClassOf 'connective tissue disease' http://www.ebi.ac.uk/efo/EFO_1000756 pityriasis rosea 'pityriasis rosea' SubClassOf 'dermatitis' 'pityriasis rosea' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000767 skin sarcoidosis 'skin sarcoidosis' SubClassOf 'skin disease' 'skin sarcoidosis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000784 microscopic polyangiitis 'microscopic polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' 'microscopic polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' http://www.ebi.ac.uk/efo/EFO_1000781 overactive bladder 'overactive bladder' SubClassOf 'bladder disease' 'overactive bladder' SubClassOf 'bladder disease' http://purl.obolibrary.org/obo/GO_0000096 sulfur amino acid metabolic process 'sulfur amino acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://www.ebi.ac.uk/efo/EFO_1000702 folliculitis 'folliculitis' SubClassOf 'dermatitis' 'folliculitis' SubClassOf 'dermatitis' http://www.ebi.ac.uk/efo/EFO_1000709 pemphigoid gestationis 'pemphigoid gestationis' SubClassOf 'pemphigus' 'pemphigoid gestationis' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_1000713 hypopigmentation of eyelid 'hypopigmentation of eyelid' SubClassOf 'eyelid disease' 'hypopigmentation of eyelid' SubClassOf 'eyelid disease' http://www.ebi.ac.uk/efo/EFO_1000727 lipodystrophy 'lipodystrophy' SubClassOf 'disease has major feature' some 'Lipodystrophy' 'lipodystrophy' EquivalentTo 'disease' and ('disease has major feature' some 'Lipodystrophy') 'lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Lipodystrophy' 'lipodystrophy' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Lipodystrophy') http://www.ebi.ac.uk/efo/EFO_1000729 loiasis 'loiasis' SubClassOf 'filariasis' 'loiasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_1000735 miliaria rubra 'miliaria rubra' SubClassOf 'miliaria' 'miliaria rubra' SubClassOf 'miliaria' http://www.ebi.ac.uk/efo/EFO_0700095 type 1 interferonopathy 'type 1 interferonopathy' SubClassOf 'autoinflammatory syndrome' 'type 1 interferonopathy' SubClassOf 'autoinflammatory syndrome' http://www.ebi.ac.uk/efo/EFO_1000477 Pituicytoma 'Pituicytoma' SubClassOf 'posterior pituitary gland neoplasm' 'Pituicytoma' SubClassOf 'posterior pituitary gland neoplasm' http://www.ebi.ac.uk/efo/EFO_1000476 Pineocytoma 'Pineocytoma' SubClassOf 'benign endocrine neoplasm' 'Pineocytoma' SubClassOf 'benign endocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1000480 Placental Hemangioma 'Placental Hemangioma' SubClassOf 'hemangioma' 'Placental Hemangioma' SubClassOf 'hemangioma' http://www.ebi.ac.uk/efo/EFO_1000491 Primary Effusion Lymphoma 'Primary Effusion Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' 'Primary Effusion Lymphoma' SubClassOf 'diffuse large B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000490 Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'diffuse large B-cell lymphoma' 'Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type' SubClassOf 'diffuse large B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_1000428 Ovarian Serous Adenofibroma 'Ovarian Serous Adenofibroma' SubClassOf 'serous adenofibroma' 'Ovarian Serous Adenofibroma' SubClassOf 'serous adenofibroma' http://www.ebi.ac.uk/efo/EFO_1000432 Ovarian Squamous Cell Carcinoma 'Ovarian Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' 'Ovarian Squamous Cell Carcinoma' SubClassOf 'squamous cell carcinoma' http://www.ebi.ac.uk/efo/EFO_0000205 stage I endometrioid carcinoma 'stage I endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma' 'stage I endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#part_of_progression_of_disease some 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_0000206 stage II endometrioid carcinoma 'stage II endometrioid carcinoma' SubClassOf 'part of progression of disease' some 'endometrial carcinoma' 'stage II endometrioid carcinoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#part_of_progression_of_disease some 'endometrial carcinoma' http://www.ebi.ac.uk/efo/EFO_0000209 T-cell acute lymphoblastic leukemia 'T-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'T-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://www.ebi.ac.uk/efo/EFO_0000220 acute lymphoblastic leukemia 'acute lymphoblastic leukemia' SubClassOf 'Acute Leukemia' 'acute lymphoblastic leukemia' SubClassOf 'Acute Leukemia' http://www.ebi.ac.uk/efo/EFO_0000222 acute myeloid leukemia 'acute myeloid leukemia' SubClassOf 'Acute Leukemia' 'acute myeloid leukemia' SubClassOf 'Acute Leukemia' http://www.ebi.ac.uk/efo/EFO_1000454 Paranasal Sinus Adenoid Cystic Carcinoma 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'paranasal sinus carcinoma' 'Paranasal Sinus Adenoid Cystic Carcinoma' SubClassOf 'paranasal sinus carcinoma' http://www.ebi.ac.uk/efo/EFO_0000223 acute myelomonocytic leukemia 'acute myelomonocytic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute myelomonocytic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0000224 acute promyelocytic leukemia 'acute promyelocytic leukemia' SubClassOf 'acute myeloid leukemia' 'acute promyelocytic leukemia' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_1000459 Parotid Gland Adenoid Cystic Carcinoma 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'major salivary gland adenoid cystic carcinoma' 'Parotid Gland Adenoid Cystic Carcinoma' SubClassOf 'major salivary gland adenoid cystic carcinoma' http://purl.obolibrary.org/obo/GO_0000050 urea cycle 'urea cycle' SubClassOf 'organonitrogen compound biosynthetic process' 'urea cycle' SubClassOf 'biosynthetic process' http://www.ebi.ac.uk/efo/EFO_0000174 Ewing sarcoma 'Ewing sarcoma' SubClassOf 'sarcoma' 'Ewing sarcoma' SubClassOf 'sarcoma' http://www.ebi.ac.uk/efo/EFO_0000178 gastric carcinoma 'gastric carcinoma' SubClassOf 'gastric cancer' 'gastric carcinoma' SubClassOf 'gastric cancer' http://www.ebi.ac.uk/efo/EFO_0000191 MALT lymphoma 'MALT lymphoma' SubClassOf 'marginal zone B-cell lymphoma' 'MALT lymphoma' SubClassOf 'marginal zone B-cell lymphoma' http://www.ebi.ac.uk/efo/EFO_0000199 oral squamous cell carcinoma 'oral squamous cell carcinoma' SubClassOf 'oral cavity carcinoma' 'oral squamous cell carcinoma' SubClassOf 'lip and oral cavity squamous cell carcinoma' 'oral squamous cell carcinoma' SubClassOf 'oral cavity carcinoma' 'oral squamous cell carcinoma' SubClassOf 'lip and oral cavity squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0031169 odontochondrodysplasia 'odontochondrodysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040009 http://www.ebi.ac.uk/efo/EFO_1000597 Tonsillar Squamous Cell Carcinoma 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'oropharynx squamous cell carcinoma' 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'tonsil carcinoma' 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'oropharynx squamous cell carcinoma' 'Tonsillar Squamous Cell Carcinoma' SubClassOf 'tonsil carcinoma' http://www.ebi.ac.uk/efo/EFO_1000595 Thyroid Gland Undifferentiated (Anaplastic) Carcinoma 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Undifferentiated (Anaplastic) Carcinoma' SubClassOf 'thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000593 Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf 'thyroid carcinoma' 'Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation' SubClassOf 'thyroid carcinoma' http://www.ebi.ac.uk/efo/EFO_1000505 Rectal Tubulovillous Adenoma 'Rectal Tubulovillous Adenoma' SubClassOf 'colorectal tubulovillous adenoma' 'Rectal Tubulovillous Adenoma' SubClassOf 'colorectal tubulovillous adenoma' http://www.ebi.ac.uk/efo/EFO_1000509 Retinal Neoplasm 'Retinal Neoplasm' SubClassOf 'retinopathy' 'Retinal Neoplasm' SubClassOf 'retinopathy' http://www.ebi.ac.uk/efo/EFO_1000510 Retroperitoneal Inflammatory Myofibroblastic Tumor 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf 'retroperitoneal neoplasm' 'Retroperitoneal Inflammatory Myofibroblastic Tumor' SubClassOf 'retroperitoneal neoplasm' http://www.ebi.ac.uk/efo/EFO_1000520 Sarcomatoid Carcinoma 'Sarcomatoid Carcinoma' SubClassOf 'carcinoma' 'Sarcomatoid Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000538 Small Intestinal Tubular Adenoma 'Small Intestinal Tubular Adenoma' SubClassOf 'tubular adenoma' 'Small Intestinal Tubular Adenoma' SubClassOf 'adenoma of small intestine' 'Small Intestinal Tubular Adenoma' SubClassOf 'tubular adenoma' 'Small Intestinal Tubular Adenoma' SubClassOf 'adenoma of small intestine' http://www.ebi.ac.uk/efo/EFO_1000539 Small Intestinal Tubulovillous Adenoma 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'adenoma of small intestine' 'Small Intestinal Tubulovillous Adenoma' SubClassOf 'adenoma of small intestine' http://www.ebi.ac.uk/efo/EFO_1000555 Submandibular Gland Adenoid Cystic Carcinoma 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'major salivary gland adenoid cystic carcinoma' 'Submandibular Gland Adenoid Cystic Carcinoma' SubClassOf 'major salivary gland adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_1000559 Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'systemic mastocytosis' 'Systemic Mastocytosis with Associated Clonal Hematological non-Mast-Cell Lineage Disease' SubClassOf 'systemic mastocytosis' http://www.ebi.ac.uk/efo/EFO_1000563 Teratoma with Malignant Transformation 'Teratoma with Malignant Transformation' SubClassOf 'teratoma' 'Teratoma with Malignant Transformation' SubClassOf 'teratoma' http://www.ebi.ac.uk/efo/EFO_1000560 T-Cell Prolymphocytic Leukemia 'T-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' 'T-Cell Prolymphocytic Leukemia' SubClassOf 'prolymphocytic leukemia' http://purl.obolibrary.org/obo/MONDO_0021632 primary brain neoplasm 'primary brain neoplasm' SubClassOf 'brain neoplasm' 'primary brain neoplasm' SubClassOf 'brain neoplasm' http://www.ebi.ac.uk/efo/EFO_1000576 Thymic Carcinoma 'Thymic Carcinoma' SubClassOf 'carcinoma' 'Thymic Carcinoma' SubClassOf 'carcinoma' http://www.ebi.ac.uk/efo/EFO_1000577 Thymic Sarcomatoid Carcinoma 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Thymic Carcinoma' 'Thymic Sarcomatoid Carcinoma' SubClassOf 'Thymic Carcinoma' http://www.ebi.ac.uk/efo/EFO_1000578 Thymic Small Cell Carcinoma 'Thymic Small Cell Carcinoma' SubClassOf 'thymic neuroendocrine carcinoma' 'Thymic Small Cell Carcinoma' SubClassOf 'thymic neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0021636 astrocytic tumor 'astrocytic tumor' SubClassOf 'glioma' 'astrocytic tumor' SubClassOf 'glioma' http://purl.obolibrary.org/obo/MONDO_0021639 grade II glioma 'grade II glioma' SubClassOf 'low grade glioma' 'grade II glioma' SubClassOf 'low grade glioma' http://purl.obolibrary.org/obo/MONDO_0021657 ovarian sex cord-stromal tumor 'ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal tumor' 'ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal tumor' http://purl.obolibrary.org/obo/MONDO_0031028 developmental and epileptic encephalopathy 105 with hypopituitarism 'developmental and epileptic encephalopathy 105 with hypopituitarism' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 105 with hypopituitarism' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0031021 developmental and epileptic encephalopathy 104 'developmental and epileptic encephalopathy 104' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 104' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0031014 autoimmune gastritis 'autoimmune gastritis' SubClassOf 'gastritis' 'autoimmune gastritis' SubClassOf 'gastritis' http://purl.obolibrary.org/obo/MONDO_0031052 developmental and epileptic encephalopathy 106 'developmental and epileptic encephalopathy 106' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 106' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0031084 amelogenesis imperfecta, IIa 1K 'amelogenesis imperfecta, IIa 1K' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta, IIa 1K' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0016987 neuroacanthocytosis 'neuroacanthocytosis' SubClassOf 'disease has major feature' some 'dementia' 'neuroacanthocytosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0002358 laryngeal carcinoma 'laryngeal carcinoma' SubClassOf 'carcinoma' 'laryngeal carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' 'familial nephrotic syndrome' SubClassOf 'nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0002363 papilloma 'papilloma' SubClassOf 'benign epithelial neoplasm' 'papilloma' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002387 liver angiosarcoma 'liver angiosarcoma' SubClassOf 'hepatic vascular disorder' 'liver angiosarcoma' SubClassOf 'hepatic vascular disorder' http://purl.obolibrary.org/obo/MONDO_0002397 liver sarcoma 'liver sarcoma' SubClassOf 'liver cancer' 'liver sarcoma' SubClassOf 'liver cancer' http://purl.obolibrary.org/obo/MONDO_0002398 mucinous adenofibroma 'mucinous adenofibroma' SubClassOf 'mucinous neoplasm' 'mucinous adenofibroma' SubClassOf 'mucinous neoplasm' http://www.ebi.ac.uk/efo/EFO_0005297 Granulomatosis with Polyangiitis 'Granulomatosis with Polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' 'Granulomatosis with Polyangiitis' SubClassOf 'anti-neutrophil cytoplasmic antibody-associated vasculitis' http://purl.obolibrary.org/obo/MONDO_0002395 renal adenoma 'renal adenoma' SubClassOf 'kidney benign neoplasm' 'renal adenoma' SubClassOf 'adenoma' 'renal adenoma' SubClassOf 'kidney benign neoplasm' 'renal adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0002402 malignant giant cell tumor 'malignant giant cell tumor' SubClassOf 'cancer' 'malignant giant cell tumor' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0002404 liver hemangioma 'liver hemangioma' SubClassOf 'liver and intrahepatic bile duct neoplasm' 'liver hemangioma' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0002407 capillary hemangioma 'capillary hemangioma' SubClassOf 'hemangioma' 'capillary hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0002413 glycogen storage disease I 'glycogen storage disease I' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease I' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0002415 bone carcinoma 'bone carcinoma' SubClassOf 'carcinoma' 'bone carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0002416 ethmoid sinus squamous cell carcinoma 'ethmoid sinus squamous cell carcinoma' SubClassOf 'paranasal sinus squamous cell carcinoma' 'ethmoid sinus squamous cell carcinoma' SubClassOf 'paranasal sinus squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002418 ethmoid sinus adenocarcinoma 'ethmoid sinus adenocarcinoma' SubClassOf 'adenocarcinoma' 'ethmoid sinus adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002441 Jervell and Lange-Nielsen syndrome 'Jervell and Lange-Nielsen syndrome' SubClassOf 'familial long QT syndrome' 'Jervell and Lange-Nielsen syndrome' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'mandibulofacial dysostosis' 'Treacher-Collins syndrome' SubClassOf 'syndromic disease' 'Treacher-Collins syndrome' SubClassOf 'mandibulofacial dysostosis' 'Treacher-Collins syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0002450 prostatic adenoma 'prostatic adenoma' SubClassOf 'benign epithelial neoplasm' 'prostatic adenoma' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002227 ovarian lymphoma 'ovarian lymphoma' SubClassOf 'lymphoma' 'ovarian lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0002270 viral gastritis 'viral gastritis' SubClassOf 'viral disease' 'viral gastritis' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0002307 blepharoconjunctivitis 'blepharoconjunctivitis' SubClassOf 'conjunctivitis' 'blepharoconjunctivitis' SubClassOf 'conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0002314 chronic conjunctivitis 'chronic conjunctivitis' SubClassOf 'conjunctivitis' 'chronic conjunctivitis' SubClassOf 'conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0002320 congenital nervous system disorder 'congenital nervous system disorder' SubClassOf 'nervous system disease' 'congenital nervous system disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0002334 hematopoietic and lymphoid system neoplasm 'hematopoietic and lymphoid system neoplasm' SubClassOf 'hematologic disease' 'hematopoietic and lymphoid system neoplasm' SubClassOf 'hematologic disease' http://purl.obolibrary.org/obo/MONDO_0002100 cardiovascular cancer 'cardiovascular cancer' SubClassOf 'cancer' 'cardiovascular cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0002101 facial nerve neoplasm 'facial nerve neoplasm' SubClassOf 'facial nerve disease' 'facial nerve neoplasm' SubClassOf 'facial nerve disease' http://purl.obolibrary.org/obo/MONDO_0016740 choriocarcinoma of the central nervous system 'choriocarcinoma of the central nervous system' SubClassOf 'central nervous system nongerminomatous germ cell tumor' 'choriocarcinoma of the central nervous system' SubClassOf 'central nervous system nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0002108 thyroid cancer 'thyroid cancer' SubClassOf 'malignant endocrine neoplasm' 'thyroid cancer' SubClassOf 'malignant endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002112 benign peritoneal mesothelioma 'benign peritoneal mesothelioma' SubClassOf 'peritoneal benign neoplasm' 'benign peritoneal mesothelioma' SubClassOf 'peritoneal benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002113 peritoneal carcinoma 'peritoneal carcinoma' SubClassOf 'peritoneum cancer' 'peritoneal carcinoma' SubClassOf 'peritoneum cancer' 'peritoneal carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0016759 pontocerebellar hypoplasia type 2 'pontocerebellar hypoplasia type 2' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 2' SubClassOf 'hereditary motor neuron disease' 'pontocerebellar hypoplasia type 2' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0016761 spondyloepiphyseal dysplasia 'spondyloepiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' 'spondyloepiphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0002132 skull cancer 'skull cancer' SubClassOf 'head and neck malignant neoplasia' 'skull cancer' SubClassOf 'skull neoplasm' 'skull cancer' SubClassOf 'head and neck malignant neoplasia' 'skull cancer' SubClassOf 'skull neoplasm' http://purl.obolibrary.org/obo/MONDO_0016785 complete hydatidiform mole 'complete hydatidiform mole' SubClassOf 'Hydatidiform Mole' 'complete hydatidiform mole' SubClassOf 'Hydatidiform Mole' http://purl.obolibrary.org/obo/MONDO_0002159 fallopian tube leiomyosarcoma 'fallopian tube leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'fallopian tube leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form 'mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0002167 rectum malignant melanoma 'rectum malignant melanoma' SubClassOf 'digestive system melanoma' 'rectum malignant melanoma' SubClassOf 'digestive system melanoma' http://purl.obolibrary.org/obo/MONDO_0002162 fallopian tube adenosarcoma 'fallopian tube adenosarcoma' SubClassOf 'fallopian tube cancer' 'fallopian tube adenosarcoma' SubClassOf 'fallopian tube cancer' http://purl.obolibrary.org/obo/MONDO_0002178 placenta cancer 'placenta cancer' SubClassOf 'uterine cancer' 'placenta cancer' SubClassOf 'uterine cancer' http://purl.obolibrary.org/obo/MONDO_0002172 otosalpingitis 'otosalpingitis' SubClassOf 'eustachian tube disease' 'otosalpingitis' SubClassOf 'eustachian tube disease' http://purl.obolibrary.org/obo/MONDO_0016801 mitochondrial substrate carrier disorder 'mitochondrial substrate carrier disorder' SubClassOf 'mitochondrial membrane transport disorder' 'mitochondrial substrate carrier disorder' SubClassOf 'mitochondrial membrane transport disorder' http://purl.obolibrary.org/obo/MONDO_0016802 mitochondrial protein import disorder 'mitochondrial protein import disorder' SubClassOf 'mitochondrial membrane transport disorder' 'mitochondrial protein import disorder' SubClassOf 'mitochondrial membrane transport disorder' http://purl.obolibrary.org/obo/MONDO_0016817 Meier-Gorlin syndrome 'Meier-Gorlin syndrome' SubClassOf 'syndromic disease' 'Meier-Gorlin syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016810 autosomal recessive progressive external ophthalmoplegia 'autosomal recessive progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia' 'autosomal recessive progressive external ophthalmoplegia' SubClassOf 'progressive external ophthalmoplegia' 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_0002203 constipation disorder 'constipation disorder' SubClassOf 'disease has major feature' some 'Constipation' 'constipation disorder' EquivalentTo 'disease' and ('disease has major feature' some 'Constipation') 'constipation disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Constipation') 'constipation disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Constipation' http://purl.obolibrary.org/obo/MONDO_0002204 transient arthritis 'transient arthritis' SubClassOf 'transient arthropathy' 'transient arthritis' SubClassOf 'transient arthropathy' http://purl.obolibrary.org/obo/MONDO_0002201 vulvar trichoepithelioma 'vulvar trichoepithelioma' SubClassOf 'trichoblastoma' 'vulvar trichoepithelioma' SubClassOf 'trichoblastoma' http://purl.obolibrary.org/obo/MONDO_0002017 olivopontocerebellar atrophy 'olivopontocerebellar atrophy' SubClassOf 'disease shares features of' some 'cerebellar ataxia' 'olivopontocerebellar atrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0002013 lymphangioma 'lymphangioma' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002014 autosomal recessive Ehlers-Danlos syndrome, vascular type 'autosomal recessive Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal recessive disease' 'autosomal recessive Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0016660 autosomal recessive primary microcephaly 'autosomal recessive primary microcephaly' SubClassOf 'autosomal recessive disease' 'autosomal recessive primary microcephaly' SubClassOf 'isolated congenital microcephaly' 'autosomal recessive primary microcephaly' SubClassOf 'autosomal recessive disease' 'autosomal recessive primary microcephaly' SubClassOf 'isolated congenital microcephaly' http://purl.obolibrary.org/obo/MONDO_0002038 head and neck carcinoma 'head and neck carcinoma' SubClassOf 'carcinoma' 'head and neck carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0002039 cognitive disorder 'cognitive disorder' SubClassOf 'psychiatric disorder' 'cognitive disorder' SubClassOf 'psychiatric disorder' http://purl.obolibrary.org/obo/MONDO_0002035 colon lymphoma 'colon lymphoma' SubClassOf 'colorectal lymphoma' 'colon lymphoma' SubClassOf 'colorectal lymphoma' http://purl.obolibrary.org/obo/MONDO_0002030 chronic cervicitis 'chronic cervicitis' SubClassOf 'cervicitis' 'chronic cervicitis' SubClassOf 'cervicitis' http://purl.obolibrary.org/obo/MONDO_0016675 distal arthrogryposis type 10 'distal arthrogryposis type 10' SubClassOf 'distal arthrogryposis' 'distal arthrogryposis type 10' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0002058 breast adenoma 'breast adenoma' SubClassOf 'benign epithelial neoplasm' 'breast adenoma' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0016692 pilomyxoid astrocytoma 'pilomyxoid astrocytoma' SubClassOf 'pilocytic astrocytoma' 'pilomyxoid astrocytoma' SubClassOf 'pilocytic astrocytoma' http://purl.obolibrary.org/obo/MONDO_0002089 retinal vascular occlusion 'retinal vascular occlusion' SubClassOf 'retinal vascular disorder' 'retinal vascular occlusion' SubClassOf 'retinal vascular disorder' http://purl.obolibrary.org/obo/MONDO_0100488 CDH1-related diffuse gastric and lobular breast cancer syndrome 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'hereditary gastric cancer' 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf 'predisposes towards' some 'lobular breast carcinoma' 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'lobular breast carcinoma' 'CDH1-related diffuse gastric and lobular breast cancer syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hereditary gastric cancer' 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' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'IGA glomerulonephritis') 'IgA nephropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'IGA glomerulonephritis') 'IgA nephropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'IGA glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0100512 mitochondrial DNA depletion syndrome, hepatocerebral form 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0858939 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype 'diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype' SubClassOf 'malignant glioma' 'diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype' SubClassOf http://purl.obolibrary.org/obo/MONDO_1010030 http://purl.obolibrary.org/obo/MONDO_0100519 epilepsy, idiopathic generalized, susceptibility to, 17 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 17' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0858921 EWSR1-negative small round cell tumor 'EWSR1-negative small round cell tumor' SubClassOf 'small cell sarcoma' 'EWSR1-negative small round cell tumor' SubClassOf 'small cell sarcoma' http://purl.obolibrary.org/obo/MONDO_0016700 anaplastic ependymoma 'anaplastic ependymoma' SubClassOf 'anaplastic cancer' 'anaplastic ependymoma' SubClassOf 'anaplastic cancer' http://purl.obolibrary.org/obo/MONDO_0016712 classic medulloblastoma 'classic medulloblastoma' SubClassOf 'medulloblastoma' 'classic medulloblastoma' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/MONDO_0016729 mixed neuronal-glial tumor 'mixed neuronal-glial tumor' SubClassOf 'neuroepithelial neoplasm' 'mixed neuronal-glial tumor' SubClassOf 'neuroepithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0016501 Hermansky-Pudlak syndrome with pulmonary fibrosis 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome with pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0016502 Hermansky-Pudlak syndrome without pulmonary fibrosis 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' 'Hermansky-Pudlak syndrome without pulmonary fibrosis' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0016516 Kenny-Caffey syndrome 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' 'Kenny-Caffey syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016527 glycogen storage disease due to lactate dehydrogenase deficiency 'glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to lactate dehydrogenase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0016537 lymphoproliferative syndrome 'lymphoproliferative syndrome' SubClassOf 'inborn error of immunity' 'lymphoproliferative syndrome' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0016539 atypical hypotonia-cystinuria syndrome 'atypical hypotonia-cystinuria syndrome' SubClassOf 'hypotonia-cystinuria syndrome' 'atypical hypotonia-cystinuria syndrome' SubClassOf 'hypotonia-cystinuria syndrome' http://purl.obolibrary.org/obo/MONDO_0016535 hypohidrotic ectodermal dysplasia 'hypohidrotic ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'hypohidrotic ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf 'disease shares features of' some 'phenylketonuria' 'hyperphenylalaninemia due to tetrahydrobiopterin deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form 'congenital primary megaureter, obstructed form' SubClassOf 'congenital primary megaureter' 'congenital primary megaureter, obstructed form' SubClassOf 'congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form 'congenital primary megaureter, refluxing form' SubClassOf 'congenital primary megaureter' 'congenital primary megaureter, refluxing form' SubClassOf 'congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0016552 congenital primary megaureter, nonrefluxing and unobstructed form 'congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'congenital primary megaureter' 'congenital primary megaureter, nonrefluxing and unobstructed form' SubClassOf 'congenital primary megaureter' http://purl.obolibrary.org/obo/MONDO_0016572 central bilateral macrogyria 'central bilateral macrogyria' SubClassOf 'cerebral cortical dysplasia' 'central bilateral macrogyria' SubClassOf 'cerebral cortical dysplasia' http://purl.obolibrary.org/obo/MONDO_0016571 macrocephaly-short stature-paraplegia syndrome 'macrocephaly-short stature-paraplegia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'macrocephaly-short stature-paraplegia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia 'mandibuloacral dysplasia' SubClassOf 'hereditary lipodystrophy' 'mandibuloacral dysplasia' SubClassOf 'hereditary lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0016586 systemic mastocytosis 'systemic mastocytosis' SubClassOf 'Mastocytosis' 'systemic mastocytosis' SubClassOf 'Mastocytosis' http://purl.obolibrary.org/obo/MONDO_0100382 acute myeloid leukemia, t(6;9)(p23;q34.1) 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(6;9)(p23;q34.1)' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100350 neuronopathy, distal hereditary motor, type 5 'neuronopathy, distal hereditary motor, type 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'neuronopathy, distal hereditary motor, type 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0100431 migraine without aura 'migraine without aura' SubClassOf 'migraine disorder' 'migraine without aura' SubClassOf 'migraine disorder' http://purl.obolibrary.org/obo/MONDO_0100440 Asperger syndrome, susceptibility to 'Asperger syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'Asperger syndrome' 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Asperger syndrome') 'Asperger syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Asperger syndrome' 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Asperger syndrome') http://purl.obolibrary.org/obo/MONDO_0100413 acute myeloid leukemia, biallelic CEBPA gene mutation 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, biallelic CEBPA gene mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100422 acute myeloid leukemia, RUNX1 gene mutation 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, RUNX1 gene mutation' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100428 progressive bulbar palsy of childhood 'progressive bulbar palsy of childhood' SubClassOf 'progressive bulbar palsy' 'progressive bulbar palsy of childhood' SubClassOf 'progressive bulbar palsy' http://www.ebi.ac.uk/efo/EFO_0005631 rectal adenocarcinoma 'rectal adenocarcinoma' SubClassOf 'rectal carcinoma' 'rectal adenocarcinoma' SubClassOf 'rectal carcinoma' http://purl.obolibrary.org/obo/MONDO_0100404 acute myeloid leukemia, MLL gene rearrangement 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, MLL gene rearrangement' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100409 acute myeloid leukemia, t(3;5)(q25;q34) 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia, t(3;5)(q25;q34)' SubClassOf 'acute myeloid leukemia' http://www.ebi.ac.uk/efo/EFO_0005687 fibromyalgia 'fibromyalgia' SubClassOf 'syndromic disease' 'fibromyalgia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016602 citrin deficiency 'citrin deficiency' SubClassOf 'citrullinemia' 'citrin deficiency' SubClassOf 'citrullinemia' http://purl.obolibrary.org/obo/MONDO_0016605 perinatal lethal hypophosphatasia 'perinatal lethal hypophosphatasia' SubClassOf 'hypophosphatasia' 'perinatal lethal hypophosphatasia' SubClassOf 'hypophosphatasia' http://purl.obolibrary.org/obo/MONDO_0016619 autosomal recessive hypohidrotic ectodermal dysplasia 'autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' 'autosomal recessive hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0016611 lipoblastoma 'lipoblastoma' SubClassOf 'benign lipomatous neoplasm' 'lipoblastoma' SubClassOf 'benign lipomatous neoplasm' http://purl.obolibrary.org/obo/MONDO_0016612 X-linked cerebellar ataxia 'X-linked cerebellar ataxia' SubClassOf 'X-linked disease' 'X-linked cerebellar ataxia' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0016408 permanent congenital hypothyroidism 'permanent congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' 'permanent congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma 'hereditary breast carcinoma' SubClassOf 'breast carcinoma' 'hereditary breast carcinoma' SubClassOf 'breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0016418 multiple system atrophy, cerebellar type 'multiple system atrophy, cerebellar type' SubClassOf 'multiple system atrophy' 'multiple system atrophy, cerebellar type' SubClassOf 'multiple system atrophy' http://purl.obolibrary.org/obo/MONDO_0016410 central congenital hypothyroidism 'central congenital hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' 'central congenital hypothyroidism' SubClassOf 'permanent congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016446 acquired cutis laxa 'acquired cutis laxa' SubClassOf 'cutis laxa' 'acquired cutis laxa' SubClassOf 'cutis laxa' http://purl.obolibrary.org/obo/MONDO_0016450 autoimmune hemolytic anemia, cold type 'autoimmune hemolytic anemia, cold type' SubClassOf 'Anemia, Hemolytic, Autoimmune' 'autoimmune hemolytic anemia, cold type' SubClassOf 'Anemia, Hemolytic, Autoimmune' http://purl.obolibrary.org/obo/MONDO_0100290 colon serrated polyposis 'colon serrated polyposis' SubClassOf 'hyperplastic polyposis syndrome' 'colon serrated polyposis' SubClassOf 'hyperplastic polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0100296 Olmsted syndrome 1 'Olmsted syndrome 1' SubClassOf 'Olmsted syndrome' 'Olmsted syndrome 1' SubClassOf 'Olmsted syndrome' http://purl.obolibrary.org/obo/MONDO_0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1' SubClassOf 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1' SubClassOf 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' http://purl.obolibrary.org/obo/MONDO_0016473 familial rhabdoid tumor 'familial rhabdoid tumor' SubClassOf 'hereditary neoplastic syndrome' 'familial rhabdoid tumor' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0016474 drug-induced lupus erythematosus 'drug-induced lupus erythematosus' SubClassOf 'lupus erythematosus' 'drug-induced lupus erythematosus' SubClassOf 'lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0016484 Usher syndrome type 2 'Usher syndrome type 2' SubClassOf 'Usher syndrome' 'Usher syndrome type 2' SubClassOf 'Usher syndrome' http://purl.obolibrary.org/obo/MONDO_0016485 Usher syndrome type 3 'Usher syndrome type 3' SubClassOf 'Usher syndrome' 'Usher syndrome type 3' SubClassOf 'Usher syndrome' http://purl.obolibrary.org/obo/MONDO_0100250 46,XX sex reversal 1 '46,XX sex reversal 1' SubClassOf '46,XX testicular disorder of sex development' '46,XX sex reversal 1' SubClassOf '46,XX testicular disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0100253 Roberts-SC phocomelia syndrome 'Roberts-SC phocomelia syndrome' SubClassOf 'syndromic disease' 'Roberts-SC phocomelia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0100232 psoriatic arthritis, susceptibility to 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'psoriatic arthritis') 'psoriatic arthritis, susceptibility to' SubClassOf 'predisposes towards' some 'psoriatic arthritis' 'psoriatic arthritis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'psoriatic arthritis') 'psoriatic arthritis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'psoriatic arthritis' http://purl.obolibrary.org/obo/MONDO_0100242 glioma susceptibility 'glioma susceptibility' SubClassOf 'predisposes towards' some 'malignant glioma' 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'malignant glioma') 'glioma susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant glioma') 'glioma susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0100344 Bartter disease type 1 'Bartter disease type 1' SubClassOf 'Bartter syndrome' 'Bartter disease type 1' SubClassOf 'Bartter syndrome' http://purl.obolibrary.org/obo/MONDO_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') 'atactic disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Ataxia' 'atactic disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Ataxia') http://www.ebi.ac.uk/efo/EFO_0005582 renal pelvis carcinoma 'renal pelvis carcinoma' SubClassOf 'malignant renal pelvis neoplasm' 'renal pelvis carcinoma' SubClassOf 'malignant renal pelvis neoplasm' 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_0005578 pituitary cancer 'pituitary cancer' SubClassOf 'malignant endocrine neoplasm' 'pituitary cancer' SubClassOf 'malignant endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0016309 Niemann-Pick disease type C, juvenile neurologic onset 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, juvenile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016307 Niemann-Pick disease type C, severe early infantile neurologic onset 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, severe early infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016308 Niemann-Pick disease type C, late infantile neurologic onset 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, late infantile neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0016310 Niemann-Pick disease type C, adult neurologic onset 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'Niemann-Pick disease type C' 'Niemann-Pick disease type C, adult neurologic onset' SubClassOf 'Niemann-Pick disease type C' http://purl.obolibrary.org/obo/MONDO_0100195 X-linked intellectual disability with hypopituitarism 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and ('disease has major feature' some 'hypopituitarism') 'X-linked intellectual disability with hypopituitarism' SubClassOf 'disease has major feature' some 'hypopituitarism' 'X-linked intellectual disability with hypopituitarism' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'hypopituitarism' 'X-linked intellectual disability with hypopituitarism' EquivalentTo 'syndromic intellectual disability' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'hypopituitarism') http://purl.obolibrary.org/obo/MONDO_0016338 non-familial dilated cardiomyopathy 'non-familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' 'non-familial dilated cardiomyopathy' SubClassOf 'dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0100173 leukemia, acute myeloid, susceptibility to 'leukemia, acute myeloid, susceptibility to' SubClassOf 'predisposes towards' some 'acute myeloid leukemia' 'leukemia, acute myeloid, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0100178 dermatitis, atopic, susceptibility to 'dermatitis, atopic, susceptibility to' SubClassOf 'predisposes towards' some 'dermatitis, atopic' 'dermatitis, atopic, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'atopic eczema' http://purl.obolibrary.org/obo/MONDO_0016344 hydranencephaly 'hydranencephaly' SubClassOf 'encephaloclastic disorder' 'hydranencephaly' SubClassOf 'encephaloclastic disorder' http://purl.obolibrary.org/obo/MONDO_0100182 schizophrenia, susceptibility to 'schizophrenia, susceptibility to' SubClassOf 'predisposes towards' some 'schizophrenia' 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'schizophrenia') 'schizophrenia, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'schizophrenia') 'schizophrenia, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'schizophrenia' http://purl.obolibrary.org/obo/MONDO_0016354 xeroderma pigmentosum-Cockayne syndrome complex 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'xeroderma pigmentosum' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'disease shares features of' some 'Cockayne syndrome' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Cockayne syndrome' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'xeroderma pigmentosum' http://purl.obolibrary.org/obo/MONDO_0016368 Rothmund-Thomson syndrome type 1 'Rothmund-Thomson syndrome type 1' SubClassOf 'Rothmund-Thomson syndrome' 'Rothmund-Thomson syndrome type 1' SubClassOf 'Rothmund-Thomson syndrome' http://purl.obolibrary.org/obo/MONDO_0016369 Rothmund-Thomson syndrome type 2 'Rothmund-Thomson syndrome type 2' SubClassOf 'Rothmund-Thomson syndrome' 'Rothmund-Thomson syndrome type 2' SubClassOf 'Rothmund-Thomson syndrome' http://purl.obolibrary.org/obo/MONDO_0016364 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with ocular defect' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0016365 familial primary hyperparathyroidism 'familial primary hyperparathyroidism' SubClassOf 'primary hyperparathyroidism' 'familial primary hyperparathyroidism' SubClassOf 'primary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0016366 maternal phenylketonuria 'maternal phenylketonuria' SubClassOf 'phenylketonuria' 'maternal phenylketonuria' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0100164 permanent neonatal diabetes mellitus 'permanent neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' 'permanent neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0100167 pulmonary disease, chronic obstructive, susceptibility to 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'predisposes towards' some 'chronic obstructive pulmonary disease' 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'chronic obstructive pulmonary disease' http://purl.obolibrary.org/obo/MONDO_0016391 neonatal diabetes mellitus 'neonatal diabetes mellitus' SubClassOf 'monogenic diabetes' 'neonatal diabetes mellitus' SubClassOf 'monogenic diabetes' http://purl.obolibrary.org/obo/MONDO_0100130 adult acute respiratory distress syndrome 'adult acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' 'adult acute respiratory distress syndrome' SubClassOf 'acute respiratory distress syndrome' http://purl.obolibrary.org/obo/MONDO_0100135 Dravet syndrome 'Dravet syndrome' SubClassOf 'disease shares features of' some 'developmental and epileptic encephalopathy, 6' 'Dravet syndrome' SubClassOf 'developmental and epileptic encephalopathy' 'Dravet syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'developmental and epileptic encephalopathy, 6' 'Dravet syndrome' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0016381 hypertrichosis lanuginosa congenita 'hypertrichosis lanuginosa congenita' SubClassOf 'ectodermal dysplasia syndrome' 'hypertrichosis lanuginosa congenita' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0016383 nephrogenic diabetes insipidus 'nephrogenic diabetes insipidus' SubClassOf 'diabetes insipidus' 'nephrogenic diabetes insipidus' SubClassOf 'diabetes insipidus' http://purl.obolibrary.org/obo/MONDO_0016396 pontocerebellar hypoplasia type 1 'pontocerebellar hypoplasia type 1' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 1' SubClassOf 'hereditary motor neuron disease' 'pontocerebellar hypoplasia type 1' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0016394 sporadic infantile bilateral striatal necrosis 'sporadic infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' 'sporadic infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' http://purl.obolibrary.org/obo/MONDO_0100110 adenovirus renal infection 'adenovirus renal infection' SubClassOf 'disease has major feature' some 'Severe adenovirus infection' 'adenovirus renal infection' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Severe adenovirus infection' http://purl.obolibrary.org/obo/MONDO_0100116 Middle East respiratory syndrome 'Middle East respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' 'Middle East respiratory syndrome' SubClassOf 'Orthocoronavirinae infectious disease' http://purl.obolibrary.org/obo/MONDO_0100121 SCN4A-related myopathy, autosomal recessive 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Skeletal muscle atrophy' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'Decreased fetal movement' 'SCN4A-related myopathy, autosomal recessive' SubClassOf 'disease has major feature' some 'craniosynostosis' 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Skeletal muscle atrophy' 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Decreased fetal movement' 'SCN4A-related myopathy, autosomal recessive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0100211 growth hormone insensitivity with immune dysregulation 1, autosomal recessive 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'autosomal recessive disease' 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'growth hormone insensitivity syndrome with immune dysregulation' 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'autosomal recessive disease' 'growth hormone insensitivity with immune dysregulation 1, autosomal recessive' SubClassOf 'growth hormone insensitivity syndrome with immune dysregulation' http://purl.obolibrary.org/obo/MONDO_0100213 IFAP syndrome 1, with or without BRESHECK syndrome 'IFAP syndrome 1, with or without BRESHECK syndrome' SubClassOf 'X-linked recessive disease' 'IFAP syndrome 1, with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' 'IFAP syndrome 1, with or without BRESHECK syndrome' SubClassOf 'X-linked recessive disease' 'IFAP syndrome 1, with or without BRESHECK syndrome' SubClassOf 'IFAP syndrome' http://purl.obolibrary.org/obo/MONDO_0100216 DICER1-related tumor predisposition 'DICER1-related tumor predisposition' SubClassOf 'syndromic disease' 'DICER1-related tumor predisposition' SubClassOf 'predisposes towards' some 'cancer' 'DICER1-related tumor predisposition' SubClassOf 'syndromic disease' 'DICER1-related tumor predisposition' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'cancer' http://purl.obolibrary.org/obo/MONDO_0100218 arthrogryposis multiplex congenita 5 'arthrogryposis multiplex congenita 5' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita 5' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0100223 mitochondrial complex I deficiency, nuclear type 'mitochondrial complex I deficiency, nuclear type' SubClassOf 'mitochondrial complex I deficiency' 'mitochondrial complex I deficiency, nuclear type' SubClassOf 'mitochondrial complex I deficiency' http://www.ebi.ac.uk/efo/EFO_0005854 allergic rhinitis 'allergic rhinitis' SubClassOf 'allergic respiratory disease' 'allergic rhinitis' SubClassOf 'allergic respiratory disease' http://www.ebi.ac.uk/efo/EFO_0005855 narcolepsy without cataplexy 'narcolepsy without cataplexy' SubClassOf 'narcolepsy' 'narcolepsy without cataplexy' SubClassOf 'narcolepsy' http://purl.obolibrary.org/obo/MONDO_0100095 neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 'neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures' SubClassOf 'autosomal recessive disease' 'neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0100096 COVID-19 'COVID-19' SubClassOf 'Orthocoronavirinae infectious disease' 'COVID-19' SubClassOf 'Orthocoronavirinae infectious disease' http://purl.obolibrary.org/obo/MONDO_0100079 developmental and epileptic encephalopathy, 6 'developmental and epileptic encephalopathy, 6' SubClassOf 'disease shares features of' some 'Dravet syndrome' 'developmental and epileptic encephalopathy, 6' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 6' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Dravet syndrome' 'developmental and epileptic encephalopathy, 6' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0016209 benign familial nocturnal alternating hemiplegia of childhood 'benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' 'benign familial nocturnal alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' http://purl.obolibrary.org/obo/MONDO_0100087 familial Alzheimer disease 'familial Alzheimer disease' SubClassOf 'inherited neurodegenerative disorder' 'familial Alzheimer disease' SubClassOf 'hereditary dementia' http://purl.obolibrary.org/obo/MONDO_0016216 adult hepatocellular carcinoma 'adult hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' 'adult hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' http://purl.obolibrary.org/obo/MONDO_0100052 acetazolamide-responsive hereditary episodic ataxia 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf 'disease responds to' some 'acetazolamide' 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and ('disease responds to' some 'acetazolamide') 'acetazolamide-responsive hereditary episodic ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide' 'acetazolamide-responsive hereditary episodic ataxia' EquivalentTo 'hereditary episodic ataxia' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide') http://purl.obolibrary.org/obo/MONDO_0016227 hereditary episodic ataxia 'hereditary episodic ataxia' SubClassOf 'hereditary ataxia' 'hereditary episodic ataxia' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0016248 familial ovarian cancer 'familial ovarian cancer' SubClassOf 'ovarian cancer' 'familial ovarian cancer' SubClassOf 'ovarian cancer' http://purl.obolibrary.org/obo/MONDO_0016249 hereditary site-specific ovarian cancer syndrome 'hereditary site-specific ovarian cancer syndrome' SubClassOf 'familial ovarian cancer' 'hereditary site-specific ovarian cancer syndrome' SubClassOf 'familial ovarian cancer' http://purl.obolibrary.org/obo/MONDO_0016244 atypical hemolytic-uremic syndrome 'atypical hemolytic-uremic syndrome' SubClassOf 'hereditary hemolytic uremic syndrome' 'atypical hemolytic-uremic syndrome' SubClassOf 'hereditary hemolytic uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0016241 alternating hemiplegia of childhood 'alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' 'alternating hemiplegia of childhood' SubClassOf 'alternating hemiplegia' http://purl.obolibrary.org/obo/MONDO_0100046 exfoliation syndrome, susceptibility to 'exfoliation syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'exfoliation syndrome' 'exfoliation syndrome, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'exfoliation syndrome' http://purl.obolibrary.org/obo/MONDO_0100048 graft-versus-host disease, susceptibility to 'graft-versus-host disease, susceptibility to' SubClassOf 'predisposes towards' some 'graft versus host disease' 'graft-versus-host disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'graft versus host disease' 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 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0600030 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) 'B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)' SubClassOf 'B-cell acute lymphoblastic leukemia' 'B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)' SubClassOf 'B-cell acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0016297 prelingual non-syndromic genetic hearing loss 'prelingual non-syndromic genetic hearing loss' DisjointWith 'postlingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016298 postlingual non-syndromic genetic hearing loss 'prelingual non-syndromic genetic hearing loss' DisjointWith 'postlingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016293 congenital stationary night blindness 'congenital stationary night blindness' SubClassOf 'hereditary night blindness' 'congenital stationary night blindness' SubClassOf 'hereditary neurological disease' 'congenital stationary night blindness' SubClassOf 'night blindness' http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly 'holoprosencephaly' SubClassOf 'syndromic disease' 'holoprosencephaly' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0100101 fetal akinesia deformation sequence 1 'fetal akinesia deformation sequence 1' SubClassOf 'fetal akinesia deformation sequence' 'fetal akinesia deformation sequence 1' SubClassOf 'fetal akinesia deformation sequence' http://www.ebi.ac.uk/efo/EFO_0005772 neurodegenerative disease 'neurodegenerative disease' SubClassOf 'central nervous system disease' 'neurodegenerative disease' SubClassOf 'disease has major feature' some 'Cerebral degeneration' 'neurodegenerative disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cerebral degeneration' 'neurodegenerative disease' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0036591 adrenal cortex neoplasm 'adrenal cortex neoplasm' SubClassOf 'adrenal gland neoplasm' 'adrenal cortex neoplasm' SubClassOf 'adrenal gland neoplasm' http://www.ebi.ac.uk/efo/EFO_0009646 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'inherited bleeding disorder, platelet-type' 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.ebi.ac.uk/efo/EFO_0009667 eustachian tube disease 'eustachian tube disease' SubClassOf 'middle ear disorder' 'eustachian tube disease' SubClassOf 'middle ear disorder' http://www.ebi.ac.uk/efo/EFO_0009668 external ear disease 'external ear disease' SubClassOf 'auditory system disease' 'external ear disease' SubClassOf 'auditory system disease' http://www.ebi.ac.uk/efo/EFO_0009672 inner ear disease 'inner ear disease' SubClassOf 'auditory system disease' 'inner ear disease' SubClassOf 'auditory system disease' http://purl.obolibrary.org/obo/MONDO_0012605 isolated microphthalmia 5 'isolated microphthalmia 5' SubClassOf 'isolated microphthalmia' 'isolated microphthalmia 5' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012608 neuronopathy, distal hereditary motor, autosomal recessive 4 'neuronopathy, distal hereditary motor, autosomal recessive 4' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 4' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0012600 autism, susceptibility to, 9 'autism, susceptibility to, 9' SubClassOf 'autism, susceptiblity to' 'autism, susceptibility to, 9' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0012601 autism, susceptibility to, 10 'autism, susceptibility to, 10' SubClassOf 'autism, susceptiblity to' 'autism, susceptibility to, 10' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0012637 COG1-congenital disorder of glycosylation 'COG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0012638 microphthalmia-brain atrophy syndrome 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic microphthalmia' 'microphthalmia-brain atrophy syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012635 COG8-congenital disorder of glycosylation 'COG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG8-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0012648 isobutyryl-CoA dehydrogenase deficiency 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'isobutyryl-CoA dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012658 brachydactyly type B2 'brachydactyly type B2' SubClassOf 'brachydactyly type B' 'brachydactyly type B2' SubClassOf 'brachydactyly type B' http://purl.obolibrary.org/obo/MONDO_0012679 autosomal recessive osteopetrosis 6 'autosomal recessive osteopetrosis 6' SubClassOf 'autosomal recessive osteopetrosis' 'autosomal recessive osteopetrosis 6' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0012675 corticosteroid-binding globulin deficiency 'corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease' 'corticosteroid-binding globulin deficiency' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0012676 autosomal recessive osteopetrosis 4 'autosomal recessive osteopetrosis 4' SubClassOf 'autosomal recessive osteopetrosis' 'autosomal recessive osteopetrosis 4' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0012683 pontocerebellar hypoplasia type 6 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 6' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0036696 spleen neoplasm 'spleen neoplasm' SubClassOf 'splenic disease' 'spleen neoplasm' SubClassOf 'splenic disease' http://www.ebi.ac.uk/efo/EFO_0009532 autonomic nervous system disease 'autonomic nervous system disease' SubClassOf 'disease has major feature' some 'Abnormal autonomic nervous system physiology' 'autonomic nervous system disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal autonomic nervous system physiology' http://www.ebi.ac.uk/efo/EFO_0009531 aortic valve disease 'aortic valve disease' SubClassOf 'aortic disease' 'aortic valve disease' SubClassOf 'aortic disease' 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') 'headache disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Headache' 'headache disorder' EquivalentTo 'neurological pain disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Headache') http://purl.obolibrary.org/obo/GO_1901564 organonitrogen compound metabolic process 'organonitrogen compound metabolic process' SubClassOf 'metabolic process' 'organonitrogen compound metabolic process' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/GO_1901566 organonitrogen compound biosynthetic process 'organonitrogen compound biosynthetic process' SubClassOf 'organonitrogen compound metabolic process' 'organonitrogen compound biosynthetic process' SubClassOf 'biosynthetic process' 'organonitrogen compound biosynthetic process' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012509 pigmented nodular adrenocortical disease, primary, 1 'pigmented nodular adrenocortical disease, primary, 1' SubClassOf 'primary pigmented nodular adrenocortical disease' 'pigmented nodular adrenocortical disease, primary, 1' SubClassOf 'primary pigmented nodular adrenocortical disease' http://purl.obolibrary.org/obo/MONDO_0012512 fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 'fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3' SubClassOf 'combined oxidative phosphorylation deficiency' 'fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012510 combined oxidative phosphorylation defect type 2 'combined oxidative phosphorylation defect type 2' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 2' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012526 hereditary angioedema type 3 'hereditary angioedema type 3' SubClassOf 'hereditary angioedema' 'hereditary angioedema type 3' SubClassOf 'hereditary angioedema' http://purl.obolibrary.org/obo/MONDO_0012534 combined oxidative phosphorylation defect type 4 'combined oxidative phosphorylation defect type 4' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 4' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012549 autosomal recessive ataxia, Beauce type 'autosomal recessive ataxia, Beauce type' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive ataxia, Beauce type' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0012548 Kostmann syndrome 'Kostmann syndrome' SubClassOf 'autosomal recessive severe congenital neutropenia' 'Kostmann syndrome' SubClassOf 'autosomal recessive severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0012545 neutral lipid storage myopathy 'neutral lipid storage myopathy' SubClassOf 'neutral lipid storage disease' 'neutral lipid storage myopathy' SubClassOf 'neutral lipid storage disease' http://purl.obolibrary.org/obo/MONDO_0012552 multiple endocrine neoplasia type 4 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 4' SubClassOf 'multiple endocrine neoplasia' http://purl.obolibrary.org/obo/MONDO_0012553 cerebrooculofacioskeletal syndrome 2 'cerebrooculofacioskeletal syndrome 2' SubClassOf 'COFS syndrome' 'cerebrooculofacioskeletal syndrome 2' SubClassOf 'COFS syndrome' http://purl.obolibrary.org/obo/MONDO_0012556 DK1-congenital disorder of glycosylation 'DK1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'DK1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0012574 Potocki-Lupski syndrome 'Potocki-Lupski syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17' 'Potocki-Lupski syndrome' SubClassOf 'partial duplication of the short arm of chromosome 17' http://purl.obolibrary.org/obo/MONDO_0012579 autoimmune pulmonary alveolar proteinosis 'autoimmune pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' 'autoimmune pulmonary alveolar proteinosis' SubClassOf 'pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'disease shares features of' some 'pseudoxanthoma elasticum (inherited or acquired)' 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'pseudoxanthoma elasticum (inherited or acquired)' http://purl.obolibrary.org/obo/MONDO_0012585 coronary heart disease, susceptibility to, 7 'coronary heart disease, susceptibility to, 7' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary heart disease, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0012584 systemic lupus erythematosus, susceptibility to, 9 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' 'systemic lupus erythematosus, susceptibility to, 9' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0012588 neuronal ceroid lipofuscinosis 7 'neuronal ceroid lipofuscinosis 7' SubClassOf 'neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 7' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'immunodeficiency disease' 'primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'progressive myoclonus epilepsy' 'neuronal ceroid lipofuscinosis 8 northern epilepsy variant' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0012394 multiple synostoses syndrome 2 'multiple synostoses syndrome 2' SubClassOf 'multiple synostoses syndrome' 'multiple synostoses syndrome 2' SubClassOf 'multiple synostoses syndrome' http://purl.obolibrary.org/obo/MONDO_0012407 pyridoxal phosphate-responsive seizures 'pyridoxal phosphate-responsive seizures' SubClassOf 'inborn disorder of pyridoxine metabolism' 'pyridoxal phosphate-responsive seizures' SubClassOf 'disease responds to' some 'pyridoxal 5'-phosphate' 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and ('disease responds to' some 'pyridoxal 5'-phosphate') 'pyridoxal phosphate-responsive seizures' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'pyridoxal 5'-phosphate' 'pyridoxal phosphate-responsive seizures' SubClassOf 'inborn disorder of pyridoxine metabolism' 'pyridoxal phosphate-responsive seizures' EquivalentTo 'metabolic epilepsy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'pyridoxal 5'-phosphate') http://purl.obolibrary.org/obo/MONDO_0012402 opioid dependence, susceptibility to, 1 'opioid dependence, susceptibility to, 1' SubClassOf 'predisposes towards' some 'opioid dependence' 'opioid dependence, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'opioid dependence' http://purl.obolibrary.org/obo/MONDO_0012401 congenital stromal corneal dystrophy 'congenital stromal corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'congenital stromal corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0012417 heart-hand syndrome, Slovenian type 'heart-hand syndrome, Slovenian type' SubClassOf 'heart-hand syndrome' 'heart-hand syndrome, Slovenian type' SubClassOf 'heart-hand syndrome' http://purl.obolibrary.org/obo/MONDO_0012413 syndromic microphthalmia type 5 'syndromic microphthalmia type 5' SubClassOf 'syndromic microphthalmia' 'syndromic microphthalmia type 5' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0012438 pontocerebellar hypoplasia type 5 'pontocerebellar hypoplasia type 5' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 5' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0012435 3-methylglutaconic aciduria type 5 '3-methylglutaconic aciduria type 5' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' '3-methylglutaconic aciduria type 5' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 5' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012456 congenital primary aphakia 'congenital primary aphakia' SubClassOf 'disease has major feature' some 'Congenital aphakia' 'congenital primary aphakia' SubClassOf 'anterior segment dysgenesis' 'congenital primary aphakia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Congenital aphakia' 'congenital primary aphakia' SubClassOf 'anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0012466 Parkinson disease 13, autosomal dominant, susceptibility to 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' 'Parkinson disease 13, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0012475 cone dystrophy with supernormal rod response 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy' 'cone dystrophy with supernormal rod response' SubClassOf 'cone dystrophy' http://purl.obolibrary.org/obo/MONDO_0012488 hepatitis B virus, susceptibility to 'hepatitis B virus, susceptibility to' SubClassOf 'predisposes towards' some 'genetic disorder' 'hepatitis B virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012482 West Nile virus, susceptibility to 'West Nile virus, susceptibility to' SubClassOf 'predisposes towards' some 'West Nile encephalitis' 'West Nile virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'West Nile encephalitis' http://purl.obolibrary.org/obo/MONDO_0012481 mevalonic aciduria 'mevalonic aciduria' SubClassOf 'mevalonate kinase deficiency' 'mevalonic aciduria' SubClassOf 'mevalonate kinase deficiency' http://purl.obolibrary.org/obo/MONDO_0012495 spondyloepimetaphyseal dysplasia, Genevieve type 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0009732 enthesitis-related juvenile idiopathic arthritis 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'enthesitis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://www.ebi.ac.uk/efo/EFO_0009733 psoriasis-related juvenile idiopathic arthritis 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'psoriasis-related juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://purl.obolibrary.org/obo/MONDO_0012277 myofibrillar myopathy 4 'myofibrillar myopathy 4' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 4' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0012274 acromesomelic dysplasia 3 'acromesomelic dysplasia 3' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 3' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0012289 myofibrillar myopathy 5 'myofibrillar myopathy 5' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 5' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0012280 Goldberg-Shprintzen syndrome 'Goldberg-Shprintzen syndrome' SubClassOf 'syndromic disease' 'Goldberg-Shprintzen syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012299 nanophthalmos 2 'nanophthalmos 2' SubClassOf 'nanophthalmia' 'nanophthalmos 2' SubClassOf 'nanophthalmia' http://purl.obolibrary.org/obo/MONDO_0012292 hepatitis C virus, susceptibility to 'hepatitis C virus, susceptibility to' SubClassOf 'predisposes towards' some 'hepatitis C virus infection' 'hepatitis C virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hepatitis C virus infection' http://purl.obolibrary.org/obo/MONDO_0012290 CEDNIK syndrome 'CEDNIK syndrome' SubClassOf 'syndromic disease' 'CEDNIK syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0002915 childhood infratentorial neoplasm 'childhood infratentorial neoplasm' SubClassOf 'infratentorial neoplasm' 'childhood infratentorial neoplasm' SubClassOf 'infratentorial neoplasm' http://purl.obolibrary.org/obo/MONDO_0002913 cerebellar neoplasm 'cerebellar neoplasm' SubClassOf 'cerebellar disorder' 'cerebellar neoplasm' SubClassOf 'cerebellar disorder' http://purl.obolibrary.org/obo/MONDO_0002921 congenital structural myopathy 'congenital structural myopathy' SubClassOf 'congenital myopathy' 'congenital structural myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0002936 scrotum basal cell carcinoma 'scrotum basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' 'scrotum basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002943 external ear basal cell carcinoma 'external ear basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' 'external ear basal cell carcinoma' SubClassOf 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002959 radiculopathy 'radiculopathy' SubClassOf 'peripheral nervous system disease' 'radiculopathy' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/MONDO_0002974 cervical cancer 'cervical cancer' SubClassOf 'uterine cancer' 'cervical cancer' SubClassOf 'uterine cancer' http://purl.obolibrary.org/obo/MONDO_0002977 autoimmune disorder of the nervous system 'autoimmune disorder of the nervous system' SubClassOf 'nervous system disease' 'autoimmune disorder of the nervous system' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0012308 Joubert syndrome with renal defect 'Joubert syndrome with renal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with renal defect' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0012301 mitochondrial DNA depletion syndrome, myopathic form 'mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome, myopathic form' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0002996 cavernous sinus meningioma 'cavernous sinus meningioma' SubClassOf 'skull base meningioma' 'cavernous sinus meningioma' SubClassOf 'skull base meningioma' http://purl.obolibrary.org/obo/MONDO_0012320 migraine, familial hemiplegic, 3 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' 'migraine, familial hemiplegic, 3' SubClassOf 'familial hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0012341 celiac disease, susceptibility to, 3 'celiac disease, susceptibility to, 3' SubClassOf 'predisposes towards' some 'celiac disease' 'celiac disease, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'celiac disease' http://purl.obolibrary.org/obo/MONDO_0012345 acral peeling skin syndrome 'acral peeling skin syndrome' SubClassOf 'peeling skin syndrome' 'acral peeling skin syndrome' SubClassOf 'peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0012354 platelet-type bleeding disorder 8 'platelet-type bleeding disorder 8' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 8' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0012351 zygodactyly type 1 'zygodactyly type 1' SubClassOf 'syndactyly type 1' 'zygodactyly type 1' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0012143 hereditary cryohydrocytosis with reduced stomatin 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'hereditary stomatocytosis' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0012141 orofacial cleft 6, susceptibility to 'orofacial cleft 6, susceptibility to' SubClassOf 'predisposes towards' some 'orofacial cleft' 'orofacial cleft 6, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0012166 autosomal dominant sensory ataxia 1 'autosomal dominant sensory ataxia 1' SubClassOf 'hereditary ataxia' 'autosomal dominant sensory ataxia 1' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0012160 spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia-cone-rod dystrophy syndrome' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012163 immunodeficiency 104 'immunodeficiency 104' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 104' SubClassOf 'familial severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf 'predisposes towards' some 'respiratory tract infectious disorder' 'susceptibility to respiratory infections associated with CD8alpha chain mutation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'respiratory tract infectious disorder' http://purl.obolibrary.org/obo/MONDO_0012172 mitochondrial trifunctional protein deficiency 'mitochondrial trifunctional protein deficiency' SubClassOf 'inherited lipid metabolism disorder' 'mitochondrial trifunctional protein deficiency' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0012185 spondylometaphyseal dysplasia, A4 type 'spondylometaphyseal dysplasia, A4 type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, A4 type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012183 melanoma, cutaneous malignant, susceptibility to, 3 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 3' SubClassOf 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0012198 PCWH syndrome 'PCWH syndrome' SubClassOf 'syndromic disease' 'PCWH syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 'hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'combined oxidative phosphorylation deficiency' 'hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012195 arthrogryposis-severe scoliosis syndrome 'arthrogryposis-severe scoliosis syndrome' SubClassOf 'distal arthrogryposis' 'arthrogryposis-severe scoliosis syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0002836 urethra transitional cell carcinoma 'urethra transitional cell carcinoma' SubClassOf 'urothelial carcinoma' 'urethra transitional cell carcinoma' SubClassOf 'urothelial carcinoma' http://purl.obolibrary.org/obo/MONDO_0002842 bacterial gastritis 'bacterial gastritis' SubClassOf 'bacterial disease' 'bacterial gastritis' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_0002843 fungal gastritis 'fungal gastritis' SubClassOf 'fungal infectious disease' 'fungal gastritis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0002852 mediastinum sarcoma 'mediastinum sarcoma' SubClassOf 'mediastinal soft tissue cancer' 'mediastinum sarcoma' SubClassOf 'mediastinal soft tissue cancer' http://purl.obolibrary.org/obo/MONDO_0002856 gallbladder rhabdomyosarcoma 'gallbladder rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002883 intestinal neuroendocrine neoplasm 'intestinal neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' 'intestinal neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0012204 familial pseudohyperkalemia 'familial pseudohyperkalemia' SubClassOf 'hereditary stomatocytosis' 'familial pseudohyperkalemia' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0012203 familial hyperthyroidism due to mutations in TSH receptor 'familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'hyperthyroidism' 'familial hyperthyroidism due to mutations in TSH receptor' SubClassOf 'hyperthyroidism' http://purl.obolibrary.org/obo/MONDO_0012211 MPDU1-congenital disorder of glycosylation 'MPDU1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'MPDU1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0012212 Loeys-Dietz syndrome 1 'Loeys-Dietz syndrome 1' SubClassOf 'Loeys-Dietz syndrome' 'Loeys-Dietz syndrome 1' SubClassOf 'Loeys-Dietz syndrome' http://purl.obolibrary.org/obo/MONDO_0012215 myofibrillar myopathy 3 'myofibrillar myopathy 3' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 3' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0012222 alpha-N-acetylgalactosaminidase deficiency type 2 'alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' 'alpha-N-acetylgalactosaminidase deficiency type 2' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' http://purl.obolibrary.org/obo/MONDO_0012221 alpha-N-acetylgalactosaminidase deficiency type 1 'alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' 'alpha-N-acetylgalactosaminidase deficiency type 1' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' http://purl.obolibrary.org/obo/MONDO_0012239 congenital myopathy 4B, autosomal recessive 'congenital myopathy 4B, autosomal recessive' SubClassOf 'TPM3-related myopathy' 'congenital myopathy 4B, autosomal recessive' SubClassOf 'TPM3-related myopathy' http://purl.obolibrary.org/obo/MONDO_0012235 autosomal recessive spinocerebellar ataxia 7 'autosomal recessive spinocerebellar ataxia 7' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 7' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema 'epidermolysis bullosa simplex 2E, with migratory circinate erythema' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 2E, with migratory circinate erythema' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0012251 MEDNIK syndrome 'MEDNIK syndrome' SubClassOf 'syndromic disease' 'MEDNIK syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012031 platelet-type bleeding disorder 10 'platelet-type bleeding disorder 10' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 10' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0012041 familial adenomatous polyposis 2 'familial adenomatous polyposis 2' SubClassOf 'autosomal recessive disease' 'familial adenomatous polyposis 2' SubClassOf 'classic familial adenomatous polyposis' 'familial adenomatous polyposis 2' SubClassOf 'autosomal recessive disease' 'familial adenomatous polyposis 2' SubClassOf 'classic familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0012057 legionnaire disease, susceptibility to 'legionnaire disease, susceptibility to' SubClassOf 'predisposes towards' some 'Legionnaires' disease' 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Legionnaires' disease') 'legionnaire disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Legionnaires' disease' 'legionnaire disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Legionnaires' disease') http://purl.obolibrary.org/obo/MONDO_0012052 ALG1-congenital disorder of glycosylation 'ALG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0012072 familial partial lipodystrophy, Kobberling type 'familial partial lipodystrophy, Kobberling type' SubClassOf 'familial partial lipodystrophy' 'familial partial lipodystrophy, Kobberling type' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0012074 mandibuloacral dysplasia with type B lipodystrophy 'mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'mandibuloacral dysplasia' 'mandibuloacral dysplasia with type B lipodystrophy' SubClassOf 'mandibuloacral dysplasia' http://purl.obolibrary.org/obo/MONDO_0012081 15q11q13 microduplication syndrome '15q11q13 microduplication syndrome' SubClassOf 'predisposes towards' some 'autism' '15q11q13 microduplication syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism' http://purl.obolibrary.org/obo/MONDO_0012084 aromatic L-amino acid decarboxylase deficiency 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'disorder of catecholamine synthesis' http://purl.obolibrary.org/obo/MONDO_0012092 hereditary sensory and autonomic neuropathy type 5 'hereditary sensory and autonomic neuropathy type 5' SubClassOf 'hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 5' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0002718 central nervous system teratoma 'central nervous system teratoma' SubClassOf 'central nervous system nongerminomatous germ cell tumor' 'central nervous system teratoma' SubClassOf 'central nervous system nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0002716 childhood spinal cord tumor 'childhood spinal cord tumor' SubClassOf 'spinal cord neoplasm' 'childhood spinal cord tumor' SubClassOf 'spinal cord neoplasm' http://purl.obolibrary.org/obo/MONDO_0002735 anal canal adenocarcinoma 'anal canal adenocarcinoma' SubClassOf 'anus adenocarcinoma' 'anal canal adenocarcinoma' SubClassOf 'anus adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0002742 cervical mucinous adenocarcinoma 'cervical mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'cervical mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' http://purl.obolibrary.org/obo/MONDO_0002772 intraventricular meningioma 'intraventricular meningioma' SubClassOf 'meningioma' 'intraventricular meningioma' SubClassOf 'meningioma' 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 'central nervous system organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0002785 skull base neoplasm 'skull base neoplasm' SubClassOf 'skull neoplasm' 'skull base neoplasm' SubClassOf 'skull neoplasm' http://purl.obolibrary.org/obo/MONDO_0002794 adult medulloblastoma 'adult medulloblastoma' SubClassOf 'adult cerebellar neoplasm' 'adult medulloblastoma' SubClassOf 'adult cerebellar neoplasm' http://purl.obolibrary.org/obo/MONDO_0012118 COG7-congenital disorder of glycosylation 'COG7-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG7-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0012112 hypertrophic cardiomyopathy 10 'hypertrophic cardiomyopathy 10' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 10' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012117 ALG9-congenital disorder of glycosylation 'ALG9-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG9-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0012123 congenital disorder of glycosylation type 1E 'congenital disorder of glycosylation type 1E' SubClassOf 'congenital disorder of glycosylation type I' 'congenital disorder of glycosylation type 1E' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0012120 pyruvate dehydrogenase phosphatase deficiency 'pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' 'pyruvate dehydrogenase phosphatase deficiency' SubClassOf 'pyruvate dehydrogenase deficiency' http://purl.obolibrary.org/obo/GO_0018271 biotin-protein ligase activity 'biotin-protein ligase activity' SubClassOf 'catalytic activity' 'biotin-protein ligase activity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012132 colorectal cancer, susceptibility to, 1 'colorectal cancer, susceptibility to, 1' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0012138 muscular dystrophy-dystroglycanopathy type B6 'muscular dystrophy-dystroglycanopathy type B6' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy type B6' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0002586 thymus cancer 'thymus cancer' SubClassOf 'malignant endocrine neoplasm' 'thymus cancer' SubClassOf 'malignant endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0002581 spindle cell rhabdomyosarcoma 'spindle cell rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'spindle cell rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://www.ebi.ac.uk/efo/EFO_0005046 cutaneous Leishmaniasis 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' 'cutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0005044 Leishmaniasis 'Leishmaniasis' SubClassOf 'protozoa infectious disease' 'Leishmaniasis' SubClassOf 'protozoa infectious disease' http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' 'visceral Leishmaniasis' SubClassOf 'Leishmaniasis' http://purl.obolibrary.org/obo/MONDO_0002619 bone fibrosarcoma 'bone fibrosarcoma' SubClassOf 'bone sarcoma' 'bone fibrosarcoma' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002617 bone angiosarcoma 'bone angiosarcoma' SubClassOf 'bone sarcoma' 'bone angiosarcoma' SubClassOf 'bone sarcoma' http://purl.obolibrary.org/obo/MONDO_0002624 bone leiomyosarcoma 'bone leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'bone leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0002631 conventional osteosarcoma 'conventional osteosarcoma' SubClassOf 'bone osteosarcoma' 'conventional osteosarcoma' SubClassOf 'bone osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0002684 atypical choroid plexus papilloma 'atypical choroid plexus papilloma' SubClassOf 'choroid plexus neoplasm' 'atypical choroid plexus papilloma' SubClassOf 'choroid plexus neoplasm' http://purl.obolibrary.org/obo/MONDO_0002685 childhood choroid plexus carcinoma 'childhood choroid plexus carcinoma' SubClassOf 'choroid plexus carcinoma' 'childhood choroid plexus carcinoma' SubClassOf 'choroid plexus carcinoma' http://purl.obolibrary.org/obo/MONDO_0012009 coronary heart disease, susceptibility to, 2 'coronary heart disease, susceptibility to, 2' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary heart disease, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0002691 liver cancer 'liver cancer' SubClassOf 'malignant endocrine neoplasm' 'liver cancer' SubClassOf 'malignant endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0012019 spondyloepiphyseal dysplasia, Kimberley type 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia, Kimberley type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0002460 lacrimal system cancer 'lacrimal system cancer' SubClassOf 'lacrimal apparatus disease' 'lacrimal system cancer' SubClassOf 'ocular cancer' 'lacrimal system cancer' SubClassOf 'lacrimal apparatus disease' http://purl.obolibrary.org/obo/MONDO_0002470 photosensitive trichothiodystrophy 'photosensitive trichothiodystrophy' SubClassOf 'trichothiodystrophy' 'photosensitive trichothiodystrophy' SubClassOf 'trichothiodystrophy' http://purl.obolibrary.org/obo/MONDO_0002492 acute kidney failure 'acute kidney failure' SubClassOf 'kidney failure' 'acute kidney failure' SubClassOf 'kidney failure' http://purl.obolibrary.org/obo/MONDO_0002495 colon signet ring cell adenocarcinoma 'colon signet ring cell adenocarcinoma' SubClassOf 'colorectal signet ring cell carcinoma' 'colon signet ring cell adenocarcinoma' SubClassOf 'colorectal signet ring cell carcinoma' http://purl.obolibrary.org/obo/GO_0008614 pyridoxine metabolic process 'pyridoxine metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0002516 digestive system cancer 'digestive system cancer' SubClassOf 'cancer' 'digestive system cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0002527 keratoacanthoma 'keratoacanthoma' SubClassOf 'disease shares features of' some 'squamous cell carcinoma' 'keratoacanthoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0002533 papillary adenoma 'papillary adenoma' SubClassOf 'adenoma' 'papillary adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0002536 skin papilloma 'skin papilloma' SubClassOf 'benign epithelial skin neoplasm' 'skin papilloma' SubClassOf 'benign epithelial skin neoplasm' http://purl.obolibrary.org/obo/MONDO_0002561 lysosomal storage disease 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism' 'lysosomal storage disease' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0002574 prostate embryonal rhabdomyosarcoma 'prostate embryonal rhabdomyosarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700275 http://purl.obolibrary.org/obo/MONDO_0007219 Osebold-Remondini syndrome 'Osebold-Remondini syndrome' SubClassOf 'acromesomelic dysplasia' 'Osebold-Remondini syndrome' SubClassOf 'brachydactyly' 'Osebold-Remondini syndrome' SubClassOf 'acromesomelic dysplasia' 'Osebold-Remondini syndrome' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007218 brachydactyly type A4 'brachydactyly type A4' SubClassOf 'brachydactyly' 'brachydactyly type A4' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007215 brachydactyly type A1 'brachydactyly type A1' SubClassOf 'brachydactyly' 'brachydactyly type A1' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007216 brachydactyly type A2 'brachydactyly type A2' SubClassOf 'brachydactyly' 'brachydactyly type A2' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007211 brachydactyly-arterial hypertension syndrome 'brachydactyly-arterial hypertension syndrome' SubClassOf 'syndromic disease' 'brachydactyly-arterial hypertension 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_0007221 brachydactyly type C 'brachydactyly type C' SubClassOf 'brachydactyly' 'brachydactyly type C' SubClassOf 'brachydactyly' http://purl.obolibrary.org/obo/MONDO_0007239 epidermolytic ichthyosis 'epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' 'epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0007252 Gordon syndrome 'Gordon syndrome' SubClassOf 'distal arthrogryposis' 'Gordon syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0007268 hypertrophic cardiomyopathy 4 'hypertrophic cardiomyopathy 4' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 4' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0007266 hypertrophic cardiomyopathy 2 'hypertrophic cardiomyopathy 2' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 2' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0007297 ADan amyloidosis 'ADan amyloidosis' SubClassOf 'ITM2B amyloidosis' 'ADan amyloidosis' SubClassOf 'ITM2B amyloidosis' http://purl.obolibrary.org/obo/MONDO_0007109 congenital dyserythropoietic anemia type 3 'congenital dyserythropoietic anemia type 3' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 3' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0007114 Angel-shaped phalango-epiphyseal dysplasia 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'acromelic dysplasia' 'Angel-shaped phalango-epiphyseal dysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007113 Angelman syndrome 'Angelman syndrome' SubClassOf 'syndromic disease' 'Angelman syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007124 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ankyloblepharon-ectodermal defects-cleft lip/palate syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'syndromic disease' 'Townes-Brocks syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007158 arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome 'arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome' SubClassOf 'distal arthrogryposis' 'arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'distal arthrogryposis' 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0007161 spermatogenic failure 2 'spermatogenic failure 2' SubClassOf 'azoospermia' 'spermatogenic failure 2' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0007160 Stickler syndrome type 1 'Stickler syndrome type 1' SubClassOf 'Stickler syndrome' 'Stickler syndrome type 1' SubClassOf 'Stickler syndrome' http://purl.obolibrary.org/obo/MONDO_0007187 nevoid basal cell carcinoma syndrome 'nevoid basal cell carcinoma syndrome' SubClassOf 'autosomal dominant disease' 'nevoid basal cell carcinoma syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome 'branchio-oto-renal syndrome' SubClassOf 'syndromic disease' 'branchio-oto-renal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007033 abducens nerve palsy 'abducens nerve palsy' SubClassOf 'abducens nerve disorder' 'abducens nerve palsy' SubClassOf 'abducens nerve disorder' http://purl.obolibrary.org/obo/MONDO_0007031 familial abdominal aortic aneurysm 'familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' 'familial abdominal aortic aneurysm' SubClassOf 'Abdominal Aortic Aneurysm' http://purl.obolibrary.org/obo/MONDO_0007045 acrofacial dysostosis, Catania type 'acrofacial dysostosis, Catania type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Catania type' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0007055 Acromicric dysplasia 'Acromicric dysplasia' SubClassOf 'acromelic dysplasia' 'Acromicric dysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007068 adenylosuccinate lyase deficiency 'adenylosuccinate lyase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'adenylosuccinate lyase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0007064 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'familial severe combined immunodeficiency' 'severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency' SubClassOf 'familial severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0007072 ADULT syndrome 'ADULT syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'ADULT syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007078 pseudohypoparathyroidism type 1A 'pseudohypoparathyroidism type 1A' SubClassOf 'pseudohypoparathyroidism' 'pseudohypoparathyroidism type 1A' SubClassOf 'pseudohypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0007083 autosomal dominant palmoplantar keratoderma and congenital alopecia 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' 'autosomal dominant palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007080 glucocorticoid-remediable aldosteronism 'glucocorticoid-remediable aldosteronism' SubClassOf 'familial hyperaldosteronism' 'glucocorticoid-remediable aldosteronism' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0007086 autosomal dominant Alport syndrome 'autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' 'autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' 'autosomal dominant Alport syndrome' SubClassOf 'Alport syndrome' 'autosomal dominant Alport syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0022519 autoimmune myocarditis 'autoimmune myocarditis' SubClassOf 'myocarditis' 'autoimmune myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/MONDO_0957421 borna virus encephalitis 'borna virus encephalitis' SubClassOf 'viral encephalitis' 'borna virus encephalitis' SubClassOf 'viral encephalitis' http://purl.obolibrary.org/obo/MONDO_0957408 type 1 interferonopathy of childhood 'type 1 interferonopathy of childhood' SubClassOf 'autoinflammatory syndrome of childhood' 'type 1 interferonopathy of childhood' SubClassOf 'autoinflammatory syndrome of childhood' http://purl.obolibrary.org/obo/MONDO_0012912 pseudopseudohypoparathyroidism 'pseudopseudohypoparathyroidism' SubClassOf 'pseudohypoparathyroidism' 'pseudopseudohypoparathyroidism' SubClassOf 'pseudohypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy 'Compton-North congenital myopathy' SubClassOf 'congenital myopathy' 'Compton-North congenital myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0012927 chromosome 1q41-q42 deletion syndrome 'chromosome 1q41-q42 deletion syndrome' SubClassOf 'holoprosencephaly' 'chromosome 1q41-q42 deletion syndrome' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0012933 breast-ovarian cancer, familial, susceptibility to, 2 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' 'breast-ovarian cancer, familial, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hereditary breast ovarian cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 'autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' 'autosomal recessive severe congenital neutropenia due to G6PC3 deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0012953 colorectal cancer, susceptibility to, 10 'colorectal cancer, susceptibility to, 10' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 10' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0012982 episodic ataxia type 6 'episodic ataxia type 6' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 6' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0012986 bilateral parasagittal parieto-occipital polymicrogyria 'bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0012983 cone-rod dystrophy 12 'cone-rod dystrophy 12' SubClassOf 'cone-rod dystrophy' 'cone-rod dystrophy 12' SubClassOf 'cone-rod dystrophy' 'cone-rod dystrophy 12' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040056 http://purl.obolibrary.org/obo/MONDO_0036976 benign epithelial neoplasm 'benign epithelial neoplasm' SubClassOf 'benign neoplasm' 'benign epithelial neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0957560 hearing loss, noise-induced, susceptibility to 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'noise-induced hearing loss') 'hearing loss, noise-induced, susceptibility to' SubClassOf 'predisposes towards' some 'noise-induced hearing loss' 'hearing loss, noise-induced, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'noise-induced hearing loss') 'hearing loss, noise-induced, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'noise-induced hearing loss' http://purl.obolibrary.org/obo/MONDO_0022394 cervical intraepithelial neoplasia 'cervical intraepithelial neoplasia' SubClassOf 'disease has major feature' some 'Cervical polyp' 'cervical intraepithelial neoplasia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cervical polyp' http://purl.obolibrary.org/obo/MONDO_0012808 dilated cardiomyopathy 1AA 'dilated cardiomyopathy 1AA' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1AA' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012803 diarrhea-vomiting due to trehalase deficiency 'diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0012806 ectodermal dysplasia and immunodeficiency 2 'ectodermal dysplasia and immunodeficiency 2' SubClassOf 'ectodermal dysplasia and immune deficiency' 'ectodermal dysplasia and immunodeficiency 2' SubClassOf 'ectodermal dysplasia and immune deficiency' http://purl.obolibrary.org/obo/MONDO_0012807 epidermolysis bullosa simplex 5C, with pyloric atresia 'epidermolysis bullosa simplex 5C, with pyloric atresia' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 5C, with pyloric atresia' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0012804 hypertrophic cardiomyopathy 12 'hypertrophic cardiomyopathy 12' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 12' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012805 childhood onset GLUT1 deficiency syndrome 2 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'GLUT1 deficiency syndrome' 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'childhood onset GLUT1 deficiency syndrome 2' SubClassOf 'GLUT1 deficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0012812 developmental and epileptic encephalopathy, 4 'developmental and epileptic encephalopathy, 4' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 4' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0957281 nemaline myopathy 5B, autosomal recessive, childhood-onset 'nemaline myopathy 5B, autosomal recessive, childhood-onset' SubClassOf 'nemaline myopathy' 'nemaline myopathy 5B, autosomal recessive, childhood-onset' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0957284 nemaline myopathy 5C, autosomal dominant 'nemaline myopathy 5C, autosomal dominant' SubClassOf 'nemaline myopathy' 'nemaline myopathy 5C, autosomal dominant' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0012820 colorectal cancer, susceptibility to, 3 'colorectal cancer, susceptibility to, 3' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0012843 epilepsy, childhood absence, susceptibility to, 5 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf 'predisposes towards' some 'childhood absence epilepsy' 'epilepsy, childhood absence, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'childhood absence epilepsy' http://purl.obolibrary.org/obo/MONDO_0012859 autosomal recessive osteopetrosis 7 'autosomal recessive osteopetrosis 7' SubClassOf 'autosomal recessive osteopetrosis' 'autosomal recessive osteopetrosis 7' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0012850 hypophosphatemic nephrolithiasis/osteoporosis 1 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' 'hypophosphatemic nephrolithiasis/osteoporosis 1' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' http://purl.obolibrary.org/obo/MONDO_0012851 hypophosphatemic nephrolithiasis/osteoporosis 2 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' 'hypophosphatemic nephrolithiasis/osteoporosis 2' SubClassOf 'nephrolithiasis/osteoporosis, hypophosphatemic' http://purl.obolibrary.org/obo/MONDO_0012868 thrombophilia due to protein S deficiency, autosomal dominant 'thrombophilia due to protein S deficiency, autosomal dominant' SubClassOf 'autosomal dominant disease' 'thrombophilia due to protein S deficiency, autosomal dominant' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0012864 chromosome 2q32-q33 deletion syndrome 'chromosome 2q32-q33 deletion syndrome' SubClassOf 'SATB2 associated disorder' 'chromosome 2q32-q33 deletion syndrome' SubClassOf 'SATB2 associated disorder' http://purl.obolibrary.org/obo/MONDO_0957224 congenital myopathy 21 with early respiratory failure 'congenital myopathy 21 with early respiratory failure' SubClassOf 'congenital myopathy' 'congenital myopathy 21 with early respiratory failure' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0957265 congenital myopathy 22B, severe fetal 'congenital myopathy 22B, severe fetal' SubClassOf 'congenital myopathy' 'congenital myopathy 22B, severe fetal' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0012885 SRD5A3-congenital disorder of glycosylation 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'SRD5A3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0012893 osteoarthritis susceptibility 5 'osteoarthritis susceptibility 5' SubClassOf 'predisposes towards' some 'osteoarthritis' 'osteoarthritis susceptibility 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'osteoarthritis' http://purl.obolibrary.org/obo/MONDO_0957221 spastic paraplegia 70, autosomal recessive 'spastic paraplegia 70, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 70, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0957215 congenital myopathy 20 'congenital myopathy 20' SubClassOf 'congenital myopathy' 'congenital myopathy 20' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0012700 renal tubular acidosis, distal, 4, with hemolytic anemia 'renal tubular acidosis, distal, 4, with hemolytic anemia' SubClassOf 'distal renal tubular acidosis' 'renal tubular acidosis, distal, 4, with hemolytic anemia' SubClassOf 'distal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0012718 hypotonia with lactic acidemia and hyperammonemia 'hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'combined oxidative phosphorylation deficiency' 'hypotonia with lactic acidemia and hyperammonemia' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0012716 spondyloepiphyseal dysplasia, Cantu type 'spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia, Cantu type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0012721 progressive myoclonic epilepsy type 3 'progressive myoclonic epilepsy type 3' SubClassOf 'neuronal ceroid lipofuscinosis' 'progressive myoclonic epilepsy type 3' SubClassOf 'progressive myoclonus epilepsy' 'progressive myoclonic epilepsy type 3' SubClassOf 'neuronal ceroid lipofuscinosis' 'progressive myoclonic epilepsy type 3' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0012720 Krabbe disease due to saposin A deficiency 'Krabbe disease due to saposin A deficiency' SubClassOf 'disease shares features of' some 'Krabbe disease' 'Krabbe disease due to saposin A deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Krabbe disease' http://purl.obolibrary.org/obo/MONDO_0012756 proximal 16p11.2 microdeletion syndrome 'proximal 16p11.2 microdeletion syndrome' SubClassOf 'predisposes towards' some 'autism' 'proximal 16p11.2 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism' http://purl.obolibrary.org/obo/MONDO_0012755 episodic ataxia type 7 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 7' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0012775 thrombocytopenia 4 'thrombocytopenia 4' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia 4' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0012783 RFT1-congenital disorder of glycosylation 'RFT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'RFT1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0012784 autosomal recessive ataxia due to ubiquinone deficiency 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'coenzyme Q10 deficiency' 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'coenzyme Q10 deficiency' 'autosomal recessive ataxia due to ubiquinone deficiency' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0012786 juvenile cataract-microcornea-renal glucosuria syndrome 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'autosomal dominant disease' 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0012794 ANE syndrome 'ANE syndrome' SubClassOf 'syndromic disease' 'ANE syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012799 hypertrophic cardiomyopathy 11 'hypertrophic cardiomyopathy 11' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 11' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0012796 retinitis pigmentosa 41 'retinitis pigmentosa 41' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040052 http://purl.obolibrary.org/obo/MONDO_0957308 spastic paraplegia 90A, autosomal dominant 'spastic paraplegia 90A, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 90A, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0957309 spastic paraplegia 90B, autosomal recessive 'spastic paraplegia 90B, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 90B, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0017415 multiple pterygium syndrome 'multiple pterygium syndrome' SubClassOf 'arthrogryposis syndrome' 'multiple pterygium syndrome' SubClassOf 'arthrogryposis syndrome' http://purl.obolibrary.org/obo/MONDO_0017410 porencephaly 'porencephaly' SubClassOf 'encephaloclastic disorder' 'porencephaly' SubClassOf 'encephaloclastic disorder' http://purl.obolibrary.org/obo/MONDO_0017435 popliteal pterygium syndrome 'popliteal pterygium syndrome' SubClassOf 'syndromic disease' 'popliteal pterygium syndrome' SubClassOf 'arthrogryposis syndrome' 'popliteal pterygium syndrome' SubClassOf 'arthrogryposis syndrome' 'popliteal pterygium syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040010 http://purl.obolibrary.org/obo/MONDO_0017436 lethal congenital contracture syndrome 'lethal congenital contracture syndrome' SubClassOf 'arthrogryposis syndrome' 'lethal congenital contracture syndrome' SubClassOf 'arthrogryposis syndrome' http://purl.obolibrary.org/obo/MONDO_0017454 triphalangeal thumb-polysyndactyly syndrome 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf 'disease has major feature' some 'polydactyly of a triphalangeal thumb' 'triphalangeal thumb-polysyndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'polydactyly of a triphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017480 amelia of lower limb, unilateral 'amelia of lower limb, unilateral' SubClassOf 'amelia of lower limb' 'amelia of lower limb, unilateral' SubClassOf 'amelia of lower limb' http://purl.obolibrary.org/obo/MONDO_0017478 amelia of upper limb, unilateral 'amelia of upper limb, unilateral' SubClassOf 'amelia of upper limb' 'amelia of upper limb, unilateral' SubClassOf 'amelia of upper limb' http://purl.obolibrary.org/obo/MONDO_0017479 amelia of upper limb, bilateral 'amelia of upper limb, bilateral' SubClassOf 'amelia of upper limb' 'amelia of upper limb, bilateral' SubClassOf 'amelia of upper limb' http://purl.obolibrary.org/obo/MONDO_0017490 tibial hemimelia, unilateral 'tibial hemimelia, unilateral' SubClassOf 'tibial hemimelia' 'tibial hemimelia, unilateral' SubClassOf 'tibial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017491 tibial hemimelia, bilateral 'tibial hemimelia, bilateral' SubClassOf 'tibial hemimelia' 'tibial hemimelia, bilateral' SubClassOf 'tibial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017489 ulnar hemimelia, unilateral 'ulnar hemimelia, unilateral' SubClassOf 'ulnar hemimelia' 'ulnar hemimelia, unilateral' SubClassOf 'ulnar hemimelia' http://purl.obolibrary.org/obo/MONDO_0017486 radial hemimelia, unilateral 'radial hemimelia, unilateral' SubClassOf 'radial hemimelia' 'radial hemimelia, unilateral' SubClassOf 'radial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017487 radial hemimelia, bilateral 'radial hemimelia, bilateral' SubClassOf 'radial hemimelia' 'radial hemimelia, bilateral' SubClassOf 'radial hemimelia' http://purl.obolibrary.org/obo/MONDO_0017488 ulnar hemimelia, bilateral 'ulnar hemimelia, bilateral' SubClassOf 'ulnar hemimelia' 'ulnar hemimelia, bilateral' SubClassOf 'ulnar hemimelia' http://purl.obolibrary.org/obo/MONDO_0017481 amelia of lower limb, bilateral 'amelia of lower limb, bilateral' SubClassOf 'amelia of lower limb' 'amelia of lower limb, bilateral' SubClassOf 'amelia of lower limb' http://purl.obolibrary.org/obo/MONDO_0017498 congenital absence of both forearm and hand, unilateral 'congenital absence of both forearm and hand, unilateral' SubClassOf 'congenital absence of both forearm and hand' 'congenital absence of both forearm and hand, unilateral' SubClassOf 'congenital absence of both forearm and hand' http://purl.obolibrary.org/obo/MONDO_0017499 congenital absence of both forearm and hand, bilateral 'congenital absence of both forearm and hand, bilateral' SubClassOf 'congenital absence of both forearm and hand' 'congenital absence of both forearm and hand, bilateral' SubClassOf 'congenital absence of both forearm and hand' http://purl.obolibrary.org/obo/MONDO_0017492 fibular hemimelia, unilateral 'fibular hemimelia, unilateral' SubClassOf 'fibular hemimelia' 'fibular hemimelia, unilateral' SubClassOf 'fibular hemimelia' http://purl.obolibrary.org/obo/MONDO_0017493 fibular hemimelia, bilateral 'fibular hemimelia, bilateral' SubClassOf 'fibular hemimelia' 'fibular hemimelia, bilateral' SubClassOf 'fibular hemimelia' http://purl.obolibrary.org/obo/MONDO_0042487 uterine cervix carcinoma in situ 'uterine cervix carcinoma in situ' SubClassOf 'uterus carcinoma in situ' 'uterine cervix carcinoma in situ' SubClassOf 'uterus carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus 'systemic lupus erythematosus' SubClassOf 'lupus erythematosus' 'systemic lupus erythematosus' SubClassOf 'lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0007918 microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'syndromic disease' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'disorder of development or morphogenesis' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'syndromic disease' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'microcephaly' 'microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0007916 primary intestinal lymphangiectasia 'primary intestinal lymphangiectasia' SubClassOf 'intestinal lymphangiectasia' 'primary intestinal lymphangiectasia' SubClassOf 'intestinal lymphangiectasia' http://purl.obolibrary.org/obo/MONDO_0007922 lymphedema-distichiasis syndrome 'lymphedema-distichiasis syndrome' SubClassOf 'syndromic disease' 'lymphedema-distichiasis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007927 congenital macroglossia 'congenital macroglossia' SubClassOf 'macroglossia' 'congenital macroglossia' SubClassOf 'macroglossia' http://purl.obolibrary.org/obo/MONDO_0007934 benign concentric annular macular dystrophy 'benign concentric annular macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040036 http://purl.obolibrary.org/obo/MONDO_0007938 46,XY sex reversal 4 '46,XY sex reversal 4' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 4' SubClassOf '46,XY complete gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0007949 Marshall syndrome 'Marshall syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Marshall syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0032914 ciliary dyskinesia, primary, 44 'ciliary dyskinesia, primary, 44' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 44' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0032912 Coffin-Siris syndrome 11 'Coffin-Siris syndrome 11' SubClassOf 'Coffin-Siris syndrome' 'Coffin-Siris syndrome 11' SubClassOf 'Coffin-Siris syndrome' http://purl.obolibrary.org/obo/MONDO_0032910 mitochondrial complex 1 deficiency, nuclear type 34 'mitochondrial complex 1 deficiency, nuclear type 34' SubClassOf 'mitochondrial complex I deficiency, nuclear type' 'mitochondrial complex 1 deficiency, nuclear type 34' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0032911 hearing loss, autosomal dominant 75 'hearing loss, autosomal dominant 75' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 75' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0032918 developmental and epileptic encephalopathy, 84 'developmental and epileptic encephalopathy, 84' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 84' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0032917 hearing loss, autosomal dominant 76 'hearing loss, autosomal dominant 76' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 76' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0032903 arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum 'arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0032904 corneal dystrophy, Meesmann, 2 'corneal dystrophy, Meesmann, 2' SubClassOf 'Meesmann corneal dystrophy' 'corneal dystrophy, Meesmann, 2' SubClassOf 'Meesmann corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007966 susceptibility to uveal melanoma 'susceptibility to uveal melanoma' SubClassOf 'predisposes towards' some 'Uveal Melanoma' 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Uveal Melanoma') 'susceptibility to uveal melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Uveal Melanoma') 'susceptibility to uveal melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Uveal Melanoma' http://purl.obolibrary.org/obo/MONDO_0007963 melanoma, cutaneous malignant, susceptibility to, 1 'melanoma, cutaneous malignant, susceptibility to, 1' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 1' SubClassOf 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0007964 melanoma, cutaneous malignant, susceptibility to, 2 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'autosomal dominant disease' 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 2' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0032906 spastic paraplegia 82, autosomal recessive 'spastic paraplegia 82, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 82, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0032936 myopathy, congenital, with respiratory insufficiency and bone fractures 'myopathy, congenital, with respiratory insufficiency and bone fractures' SubClassOf 'congenital myopathy' 'myopathy, congenital, with respiratory insufficiency and bone fractures' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0032937 myopathy, congenital proximal, with minicore lesions 'myopathy, congenital proximal, with minicore lesions' SubClassOf 'congenital myopathy' 'myopathy, congenital proximal, with minicore lesions' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0032932 mitochondrial DNA depletion syndrome 18 'mitochondrial DNA depletion syndrome 18' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 18' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0032923 spinocerebellar ataxia, autosomal recessive 28 'spinocerebellar ataxia, autosomal recessive 28' SubClassOf 'autosomal recessive cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive 28' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0032924 ciliary dyskinesia, primary, 45 'ciliary dyskinesia, primary, 45' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 45' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0017305 syndromic oculocutaneous albinism 'syndromic oculocutaneous albinism' SubClassOf 'hypopigmentation of the skin' 'syndromic oculocutaneous albinism' SubClassOf 'hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0007990 multiple benign circumferential skin creases on limbs 'multiple benign circumferential skin creases on limbs' SubClassOf 'skin disease' 'multiple benign circumferential skin creases on limbs' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0017313 disorder of folate metabolism and transport 'disorder of folate metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' 'disorder of folate metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0017324 autosomal recessive hypophosphatemic rickets 'autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' 'autosomal recessive hypophosphatemic rickets' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0032940 retinitis pigmentosa 88 'retinitis pigmentosa 88' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 88' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0017346 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'diffuse large B-cell lymphoma' 'Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly' SubClassOf 'diffuse large B-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0017359 3-methylglutaconic aciduria '3-methylglutaconic aciduria' SubClassOf 'classic organic aciduria' '3-methylglutaconic aciduria' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0017353 neonatal glycine encephalopathy 'neonatal glycine encephalopathy' SubClassOf 'glycine encephalopathy' 'neonatal glycine encephalopathy' SubClassOf 'glycine encephalopathy' http://purl.obolibrary.org/obo/MONDO_0017354 infantile glycine encephalopathy 'infantile glycine encephalopathy' SubClassOf 'glycine encephalopathy' 'infantile glycine encephalopathy' SubClassOf 'glycine encephalopathy' http://purl.obolibrary.org/obo/MONDO_0017392 pre-descemet corneal dystrophy 'pre-descemet corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'pre-descemet corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0017386 pleomorphic rhabdomyosarcoma 'pleomorphic rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' 'pleomorphic rhabdomyosarcoma' SubClassOf 'rhabdomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0017389 tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf 'disease responds to' some 'sapropterin' 'tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'sapropterin' http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf 'syndromic disease' 'Pallister-Hall syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007813 superficial epidermolytic ichthyosis 'superficial epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' 'superficial epidermolytic ichthyosis' SubClassOf 'keratinopathic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0007817 IgE responsiveness, atopic 'IgE responsiveness, atopic' SubClassOf 'atopic eczema' 'IgE responsiveness, atopic' SubClassOf 'genetic disorder' 'IgE responsiveness, atopic' SubClassOf 'hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0007818 hyper-IgE recurrent infection syndrome 1, autosomal dominant 'hyper-IgE recurrent infection syndrome 1, autosomal dominant' SubClassOf 'autosomal dominant disease' 'hyper-IgE recurrent infection syndrome 1, autosomal dominant' SubClassOf 'hyper-IgE syndrome' 'hyper-IgE recurrent infection syndrome 1, autosomal dominant' SubClassOf 'autosomal dominant disease' 'hyper-IgE recurrent infection syndrome 1, autosomal dominant' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0007837 Johnson neuroectodermal syndrome 'Johnson neuroectodermal syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Johnson neuroectodermal syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007839 Aase-Smith syndrome 'Aase-Smith syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Aase-Smith syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0007848 autosomal dominant keratitis 'autosomal dominant keratitis' SubClassOf 'autosomal dominant disease' 'autosomal dominant keratitis' SubClassOf 'keratitis' 'autosomal dominant keratitis' SubClassOf 'autosomal dominant disease' 'autosomal dominant keratitis' SubClassOf 'keratitis' http://purl.obolibrary.org/obo/MONDO_0007845 Kaposi sarcoma, susceptibility to 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Kaposi's sarcoma') 'Kaposi sarcoma, susceptibility to' SubClassOf 'predisposes towards' some 'Kaposi's sarcoma' 'Kaposi sarcoma, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Kaposi's sarcoma') 'Kaposi sarcoma, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Kaposi's sarcoma' http://purl.obolibrary.org/obo/MONDO_0007859 palmoplantar keratoderma i, striate, focal, or diffuse 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'hereditary palmoplantar keratoderma' 'palmoplantar keratoderma i, striate, focal, or diffuse' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0007856 palmoplantar keratoderma-esophageal carcinoma syndrome 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'syndromic disease' 'palmoplantar keratoderma-esophageal carcinoma syndrome' SubClassOf 'syndromic disease' 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' '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/MONDO_0007862 Waardenburg syndrome type 3 'Waardenburg syndrome type 3' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 3' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0032837 abdominal obesity-metabolic syndrome 4 'abdominal obesity-metabolic syndrome 4' SubClassOf 'abdominal obesity-metabolic syndrome' 'abdominal obesity-metabolic syndrome 4' SubClassOf 'abdominal obesity-metabolic syndrome' http://purl.obolibrary.org/obo/MONDO_0056806 non-small cell squamous lung carcinoma 'non-small cell squamous lung carcinoma' SubClassOf 'non-small cell lung carcinoma' 'non-small cell squamous lung carcinoma' SubClassOf 'non-small cell lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0007878 congenital laryngomalacia 'congenital laryngomalacia' SubClassOf 'laryngeal disease' 'congenital laryngomalacia' SubClassOf 'laryngeal disease' http://purl.obolibrary.org/obo/MONDO_0007874 trichorhinophalangeal syndrome type II 'trichorhinophalangeal syndrome type II' SubClassOf 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome type II' SubClassOf 'trichorhinophalangeal syndrome' http://purl.obolibrary.org/obo/MONDO_0007888 hereditary leiomyomatosis and renal cell cancer 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'hereditary neoplastic syndrome' 'hereditary leiomyomatosis and renal cell cancer' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0017207 primary organ-specific lymphoma 'primary organ-specific lymphoma' SubClassOf 'lymphoma' 'primary organ-specific lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0017209 infectious posterior uveitis 'infectious posterior uveitis' SubClassOf 'choroiditis' 'infectious posterior uveitis' SubClassOf 'choroiditis' http://purl.obolibrary.org/obo/MONDO_0032859 spermatogenic failure 40 'spermatogenic failure 40' SubClassOf 'azoospermia' 'spermatogenic failure 40' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0007895 platyspondylic dysplasia, Torrance type 'platyspondylic dysplasia, Torrance type' SubClassOf 'spondylodysplastic dysplasia' 'platyspondylic dysplasia, Torrance type' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0007892 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic disease' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017219 microform holoprosencephaly 'microform holoprosencephaly' SubClassOf 'holoprosencephaly' 'microform holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0017214 vitamin B12-responsive methylmalonic acidemia 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and ('disease responds to' some 'cobalamin') 'vitamin B12-responsive methylmalonic acidemia' SubClassOf 'disease responds to' some 'cobalamin' 'vitamin B12-responsive methylmalonic acidemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'cobalamin' 'vitamin B12-responsive methylmalonic acidemia' EquivalentTo 'methylmalonic acidemia' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'cobalamin') http://purl.obolibrary.org/obo/MONDO_0032845 spermatogenic failure 39 'spermatogenic failure 39' SubClassOf 'azoospermia' 'spermatogenic failure 39' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0017225 null syndrome 'null syndrome' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' 'null syndrome' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0017221 Pelizaeus-Merzbacher disease, connatal form 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' 'Pelizaeus-Merzbacher disease, connatal form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0017222 Pelizaeus-Merzbacher disease, classic form 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' 'Pelizaeus-Merzbacher disease, classic form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0017223 Pelizaeus-Merzbacher disease, transitional form 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' 'Pelizaeus-Merzbacher disease, transitional form' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0017224 Pelizaeus-Merzbacher disease in female carriers 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' 'Pelizaeus-Merzbacher disease in female carriers' SubClassOf 'Pelizeaus-Merzbacher spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0032874 ciliary dyskinesia, primary, 43 'ciliary dyskinesia, primary, 43' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 43' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0032869 mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 'mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' 'mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0032863 spermatogenic failure 41 'spermatogenic failure 41' SubClassOf 'azoospermia' 'spermatogenic failure 41' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0032898 spermatogenic failure 43 'spermatogenic failure 43' SubClassOf 'azoospermia' 'spermatogenic failure 43' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0032895 developmental and epileptic encephalopathy, 83 'developmental and epileptic encephalopathy, 83' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 83' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0032896 spermatogenic failure 42 'spermatogenic failure 42' SubClassOf 'azoospermia' 'spermatogenic failure 42' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0032891 aneurysm, intracranial berry, 12 'aneurysm, intracranial berry, 12' SubClassOf 'intracranial berry aneurysm' 'aneurysm, intracranial berry, 12' SubClassOf 'intracranial berry aneurysm' http://purl.obolibrary.org/obo/MONDO_0032885 spondyloepimetaphyseal dysplasia, Isidor-Toutain type 'spondyloepimetaphyseal dysplasia, Isidor-Toutain type' SubClassOf 'genetic disorder' 'spondyloepimetaphyseal dysplasia, Isidor-Toutain type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0017267 self-healing collodion baby 'self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' 'self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0017268 acral self-healing collodion baby 'acral self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' 'acral self-healing collodion baby' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0017283 DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion 'DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion' SubClassOf 'DeSanto-Shinawi syndrome' 'DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletion' SubClassOf 'DeSanto-Shinawi syndrome' http://purl.obolibrary.org/obo/MONDO_0007900 nonsyndromic congenital nail disorder 3 'nonsyndromic congenital nail disorder 3' SubClassOf 'inherited isolated nail anomaly' 'nonsyndromic congenital nail disorder 3' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0007906 familial partial lipodystrophy, Dunnigan type 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'familial partial lipodystrophy' 'familial partial lipodystrophy, Dunnigan type' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0007704 osteoarthritis susceptibility 2 'osteoarthritis susceptibility 2' SubClassOf 'predisposes towards' some 'osteoarthritis' 'osteoarthritis susceptibility 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'osteoarthritis' http://purl.obolibrary.org/obo/MONDO_0007700 hawkinsinuria 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0007709 hematuria, benign familial, 1 'hematuria, benign familial, 1' SubClassOf 'hematuria, benign familial' 'hematuria, benign familial, 1' SubClassOf 'hematuria, benign familial' http://purl.obolibrary.org/obo/MONDO_0007747 isolated hyperchlorhidrosis 'isolated hyperchlorhidrosis' SubClassOf 'autosomal recessive disease' 'isolated hyperchlorhidrosis' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0007758 epidermolytic palmoplantar keratoderma, 1 'epidermolytic palmoplantar keratoderma, 1' SubClassOf 'palmoplantar keratoderma, epidermolytic' 'epidermolytic palmoplantar keratoderma, 1' SubClassOf 'palmoplantar keratoderma, epidermolytic' http://purl.obolibrary.org/obo/MONDO_0007750 hypercholesterolemia, familial, 1 'hypercholesterolemia, familial, 1' SubClassOf 'familial hypercholesterolemia' 'hypercholesterolemia, familial, 1' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0007751 hypercholesterolemia, autosomal dominant, type B 'hypercholesterolemia, autosomal dominant, type B' SubClassOf 'familial hypercholesterolemia' 'hypercholesterolemia, autosomal dominant, type B' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0007764 autosomal dominant osteosclerosis, Worth type 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'hyperostosis' 'autosomal dominant osteosclerosis, Worth type' SubClassOf 'hyperostosis' http://purl.obolibrary.org/obo/MONDO_0032737 spastic paraplegia 80, autosomal dominant 'spastic paraplegia 80, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 80, autosomal dominant' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0007772 pseudohypoaldosteronism type 2A 'pseudohypoaldosteronism type 2A' SubClassOf 'pseudohypoaldosteronism type 2' 'pseudohypoaldosteronism type 2A' SubClassOf 'pseudohypoaldosteronism type 2' 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 'hyperthyroidism' 'selective pituitary resistance to thyroid hormone' SubClassOf 'hyperthyroidism' http://purl.obolibrary.org/obo/MONDO_0007796 hypoparathyroidism, familial isolated 1 'hypoparathyroidism, familial isolated 1' SubClassOf 'familial hypoparathyroidism' 'hypoparathyroidism, familial isolated 1' SubClassOf 'familial hypoparathyroidism' http://purl.obolibrary.org/obo/MONDO_0032778 arthrogryposis multiplex congenita 3, myogenic type 'arthrogryposis multiplex congenita 3, myogenic type' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita 3, myogenic type' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0017138 Opitz G/BBB syndrome 'Opitz G/BBB syndrome' SubClassOf 'syndromic disease' 'Opitz G/BBB syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017139 oromandibular-limb hypogenesis syndrome 'oromandibular-limb hypogenesis syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' 'oromandibular-limb hypogenesis syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' http://purl.obolibrary.org/obo/MONDO_0017147 idiopathic pulmonary arterial hypertension 'idiopathic pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' 'idiopathic pulmonary arterial hypertension' SubClassOf 'pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) 'mitochondrial DNA depletion syndrome 16 (hepatic type)' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 16 (hepatic type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0032787 holoprosencephaly 12 with or without pancreatic agenesis 'holoprosencephaly 12 with or without pancreatic agenesis' SubClassOf 'holoprosencephaly' 'holoprosencephaly 12 with or without pancreatic agenesis' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0007617 Coffin-Siris syndrome 1 'Coffin-Siris syndrome 1' SubClassOf 'Coffin-Siris syndrome' 'Coffin-Siris syndrome 1' SubClassOf 'Coffin-Siris syndrome' http://purl.obolibrary.org/obo/MONDO_0007639 fundus albipunctatus 'fundus albipunctatus' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040055 http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome 'Frasier syndrome' SubClassOf 'syndromic disease' 'Frasier syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007636 frontorhiny 'frontorhiny' SubClassOf 'frontonasal dysplasia' 'frontorhiny' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007630 North Carolina macular dystrophy 'North Carolina macular dystrophy' SubClassOf 'macular dystrophy, retinal' 'North Carolina macular dystrophy' SubClassOf 'macular dystrophy, retinal' http://www.ebi.ac.uk/efo/EFO_0003929 relapsing-remitting multiple sclerosis 'relapsing-remitting multiple sclerosis' SubClassOf 'multiple sclerosis' 'relapsing-remitting multiple sclerosis' SubClassOf 'multiple sclerosis' http://purl.obolibrary.org/obo/MONDO_0032610 mitochondrial complex 1 deficiency, nuclear type 5 'mitochondrial complex 1 deficiency, nuclear type 5' SubClassOf 'mitochondrial complex I deficiency, nuclear type' 'mitochondrial complex 1 deficiency, nuclear type 5' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0032637 ciliary dyskinesia, primary, 39 'ciliary dyskinesia, primary, 39' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 39' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy 'fibronectin glomerulopathy' SubClassOf 'glomerular disease' 'fibronectin glomerulopathy' SubClassOf 'glomerular disease' http://www.ebi.ac.uk/efo/EFO_0003968 angiosarcoma 'angiosarcoma' SubClassOf 'vascular cancer' 'angiosarcoma' SubClassOf 'vascular cancer' http://purl.obolibrary.org/obo/MONDO_0032631 mitochondrial complex 1 deficiency, nuclear type 27 'mitochondrial complex 1 deficiency, nuclear type 27' SubClassOf 'mitochondrial complex I deficiency, nuclear type' 'mitochondrial complex 1 deficiency, nuclear type 27' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0007686 gray platelet syndrome 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'gray platelet syndrome' SubClassOf 'alpha granule disease' 'gray platelet syndrome' SubClassOf 'inherited bleeding disorder, platelet-type' 'gray platelet syndrome' SubClassOf 'alpha granule disease' http://purl.obolibrary.org/obo/MONDO_0007690 aromatase excess syndrome 'aromatase excess syndrome' SubClassOf 'reproductive system disease' 'aromatase excess syndrome' SubClassOf 'reproductive system disease' http://purl.obolibrary.org/obo/MONDO_0007698 hand-foot-genital syndrome 'hand-foot-genital syndrome' SubClassOf 'syndromic disease' 'hand-foot-genital syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0003871 tongue neoplasm 'tongue neoplasm' SubClassOf 'tongue disorder' 'tongue neoplasm' SubClassOf 'tongue disorder' http://purl.obolibrary.org/obo/MONDO_0032664 ciliary dyskinesia, primary, 40 'ciliary dyskinesia, primary, 40' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 40' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma 'congenital mesoblastic nephroma' SubClassOf 'childhood malignant kidney neoplasm' 'congenital mesoblastic nephroma' SubClassOf 'childhood malignant kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0017060 open iniencephaly 'open iniencephaly' SubClassOf 'iniencephaly' 'open iniencephaly' SubClassOf 'iniencephaly' http://purl.obolibrary.org/obo/MONDO_0017061 closed iniencephaly 'closed iniencephaly' SubClassOf 'iniencephaly' 'closed iniencephaly' SubClassOf 'iniencephaly' http://purl.obolibrary.org/obo/MONDO_0017054 thiamine-responsive maple syrup urine disease 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and ('disease responds to' some 'vitamin B1') 'thiamine-responsive maple syrup urine disease' SubClassOf 'disease responds to' some 'vitamin B1' 'thiamine-responsive maple syrup urine disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'vitamin B1' 'thiamine-responsive maple syrup urine disease' EquivalentTo 'maple syrup urine disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'vitamin B1') http://www.ebi.ac.uk/efo/EFO_0003891 biliary tract neoplasm 'biliary tract neoplasm' SubClassOf 'biliary tract disease' 'biliary tract neoplasm' SubClassOf 'biliary tract disease' http://purl.obolibrary.org/obo/MONDO_0017067 cervicothoracic spina bifida aperta 'cervicothoracic spina bifida aperta' SubClassOf 'spina bifida aperta' 'cervicothoracic spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017068 upper thoracic spina bifida aperta 'upper thoracic spina bifida aperta' SubClassOf 'spina bifida aperta' 'upper thoracic spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017063 total spina bifida aperta 'total spina bifida aperta' SubClassOf 'spina bifida aperta' 'total spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017064 thoracolumbosacral spina bifida aperta 'thoracolumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' 'thoracolumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017065 lumbosacral spina bifida aperta 'lumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' 'lumbosacral spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017066 cervical spina bifida aperta 'cervical spina bifida aperta' SubClassOf 'spina bifida aperta' 'cervical spina bifida aperta' SubClassOf 'spina bifida aperta' http://purl.obolibrary.org/obo/MONDO_0017076 posterior meningocele 'posterior meningocele' SubClassOf 'spina bifida cystica' 'posterior meningocele' SubClassOf 'spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0017077 myelocystocele 'myelocystocele' SubClassOf 'spina bifida cystica' 'myelocystocele' SubClassOf 'spina bifida cystica' http://purl.obolibrary.org/obo/MONDO_0017092 unilateral polymicrogyria 'unilateral polymicrogyria' SubClassOf 'polymicrogyria' 'unilateral polymicrogyria' SubClassOf 'polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0017093 unilateral focal polymicrogyria 'unilateral focal polymicrogyria' SubClassOf 'unilateral polymicrogyria' 'unilateral focal polymicrogyria' SubClassOf 'unilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0017091 bilateral polymicrogyria 'bilateral polymicrogyria' SubClassOf 'polymicrogyria' 'bilateral polymicrogyria' SubClassOf 'polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0007510 Clouston syndrome 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Clouston syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007525 Ehlers-Danlos syndrome, arthrochalasia type 'Ehlers-Danlos syndrome, arthrochalasia type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, arthrochalasia type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0007524 autosomal dominant Ehlers-Danlos syndrome, vascular type 'autosomal dominant Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal dominant disease' 'autosomal dominant Ehlers-Danlos syndrome, vascular type' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007538 amelogenesis imperfecta, type 3A 'amelogenesis imperfecta, type 3A' SubClassOf 'amelogenesis imperfecta' 'amelogenesis imperfecta, type 3A' SubClassOf http://purl.obolibrary.org/obo/MONDO_0968955 http://purl.obolibrary.org/obo/MONDO_0007534 Beckwith-Wiedemann syndrome 'Beckwith-Wiedemann syndrome' SubClassOf 'overgrowth syndrome' 'Beckwith-Wiedemann syndrome' SubClassOf 'overgrowth syndrome' http://www.ebi.ac.uk/efo/EFO_0003828 spinal cord neoplasm 'spinal cord neoplasm' SubClassOf 'spinal cord disease' 'spinal cord neoplasm' SubClassOf 'spinal cord disease' http://purl.obolibrary.org/obo/MONDO_0007548 transient bullous dermolysis of the newborn 'transient bullous dermolysis of the newborn' SubClassOf 'epidermolysis bullosa dystrophica' 'transient bullous dermolysis of the newborn' SubClassOf 'epidermolysis bullosa dystrophica' http://purl.obolibrary.org/obo/MONDO_0007540 multiple endocrine neoplasia type 1 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia' 'multiple endocrine neoplasia type 1' SubClassOf 'multiple endocrine neoplasia' http://purl.obolibrary.org/obo/MONDO_0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation 'epidermolysis bullosa simplex 2F, with mottled pigmentation' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 2F, with mottled pigmentation' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0007554 epidermolysis bullosa simplex 1B, generalized intermediate 'epidermolysis bullosa simplex 1B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 1B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0007555 pidermolysis bullosa simplex 5A, Ogna type 'pidermolysis bullosa simplex 5A, Ogna type' SubClassOf 'epidermolysis bullosa simplex' 'pidermolysis bullosa simplex 5A, Ogna type' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0007552 pretibial dystrophic epidermolysis bullosa 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' 'pretibial dystrophic epidermolysis bullosa' SubClassOf 'epidermolysis bullosa dystrophica' http://www.ebi.ac.uk/efo/EFO_0003844 ureteral neoplasm 'ureteral neoplasm' SubClassOf 'ureteral disorder' 'ureteral neoplasm' SubClassOf 'ureteral disorder' http://purl.obolibrary.org/obo/MONDO_0007550 epidermolysis bullosa simplex 1A, generalized severe 'epidermolysis bullosa simplex 1A, generalized severe' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 1A, generalized severe' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0007551 epidermolysis bullosa simplex 1C, localized 'epidermolysis bullosa simplex 1C, localized' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 1C, localized' SubClassOf 'epidermolysis bullosa simplex' http://www.ebi.ac.uk/efo/EFO_0003833 brain neoplasm 'brain neoplasm' SubClassOf 'brain disease' 'brain neoplasm' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0007561 multiple epiphyseal dysplasia type 1 'multiple epiphyseal dysplasia type 1' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 1' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0007562 multiple epiphyseal dysplasia, Beighton type 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia, Beighton type' SubClassOf 'multiple epiphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_0003835 anal neoplasm 'anal neoplasm' SubClassOf 'anus disease' 'anal neoplasm' SubClassOf 'anus disease' http://www.ebi.ac.uk/efo/EFO_0003860 pancreatic neoplasm 'pancreatic neoplasm' SubClassOf 'pancreas disease' 'pancreatic neoplasm' SubClassOf 'digestive system neoplasm' 'pancreatic neoplasm' SubClassOf 'pancreas disease' 'pancreatic neoplasm' SubClassOf 'digestive system neoplasm' http://purl.obolibrary.org/obo/MONDO_0007573 erythroleukemia, familial, susceptibility to 'erythroleukemia, familial, susceptibility to' SubClassOf 'predisposes towards' some 'acute erythroleukemia' 'erythroleukemia, familial, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'acute erythroleukemia' http://www.ebi.ac.uk/efo/EFO_0003851 meningeal neoplasm 'meningeal neoplasm' SubClassOf 'Central Nervous System Neoplasm' 'meningeal neoplasm' SubClassOf 'Central Nervous System Neoplasm' http://purl.obolibrary.org/obo/MONDO_0007586 exostoses, multiple, type 2 'exostoses, multiple, type 2' SubClassOf 'hereditary multiple osteochondromas' 'exostoses, multiple, type 2' SubClassOf 'hereditary multiple osteochondromas' http://www.ebi.ac.uk/efo/EFO_0003854 postmenopausal osteoporosis 'postmenopausal osteoporosis' SubClassOf 'osteoporosis' 'postmenopausal osteoporosis' SubClassOf 'osteoporosis' http://www.ebi.ac.uk/efo/EFO_0003781 carotid artery disease 'carotid artery disease' SubClassOf 'arterial disorder' 'carotid artery disease' SubClassOf 'arterial disorder' http://www.ebi.ac.uk/efo/EFO_0003778 psoriatic arthritis 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and ('disease has major feature' some 'psoriasis') 'psoriatic arthritis' SubClassOf 'disease has major feature' some 'psoriasis' 'psoriatic arthritis' EquivalentTo 'arthritis' and ('disease arises from feature' some 'Autoimmunity') and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'psoriasis') 'psoriatic arthritis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'psoriasis' http://purl.obolibrary.org/obo/GO_0015939 pantothenate metabolic process 'pantothenate metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0007404 Cri-du-chat syndrome 'Cri-du-chat syndrome' SubClassOf 'partial deletion of the short arm of chromosome 5' 'Cri-du-chat syndrome' SubClassOf 'syndromic disease' 'Cri-du-chat syndrome' SubClassOf 'partial deletion of the short arm of chromosome 5' 'Cri-du-chat syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 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_0007410 isolated cryptophthalmia 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia' 'isolated cryptophthalmia' SubClassOf 'cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0007420 autosomal dominant deafness - onychodystrophy syndrome 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'syndromic disease' 'autosomal dominant deafness - onychodystrophy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007445 dermatopathia pigmentosa reticularis 'dermatopathia pigmentosa reticularis' SubClassOf 'ectodermal dysplasia syndrome' 'dermatopathia pigmentosa reticularis' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007442 dentinogenesis imperfecta type 3 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta' 'dentinogenesis imperfecta type 3' SubClassOf 'dentinogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0007441 dentinogenesis imperfecta type 2 'dentinogenesis imperfecta type 2' SubClassOf 'dentinogenesis imperfecta' 'dentinogenesis imperfecta type 2' SubClassOf 'dentinogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0007451 diabetes insipidus, nephrogenic, autosomal 'diabetes insipidus, nephrogenic, autosomal' SubClassOf 'nephrogenic diabetes insipidus' 'diabetes insipidus, nephrogenic, autosomal' SubClassOf 'nephrogenic diabetes insipidus' http://purl.obolibrary.org/obo/MONDO_0007450 neurohypophyseal diabetes insipidus 'neurohypophyseal diabetes insipidus' SubClassOf 'autosomal dominant disease' 'neurohypophyseal diabetes insipidus' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007462 multiple sclerosis, susceptibility to 'multiple sclerosis, susceptibility to' SubClassOf 'predisposes towards' some 'multiple sclerosis' 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'multiple sclerosis') 'multiple sclerosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple sclerosis' 'multiple sclerosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple sclerosis') http://purl.obolibrary.org/obo/MONDO_0007477 3-M syndrome '3-M syndrome' SubClassOf 'syndromic disease' '3-M syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007478 autosomal dominant Kenny-Caffey syndrome 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'autosomal dominant disease' 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'autosomal dominant Kenny-Caffey syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007495 dystonia 5 'dystonia 5' SubClassOf 'inherited dystonia' 'dystonia 5' SubClassOf 'disease responds to' some 'L-dopa' 'dystonia 5' SubClassOf 'dopa-responsive dystonia' 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971063 'dystonia 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'L-dopa' http://purl.obolibrary.org/obo/DOID_10113 trypanosomiasis 'trypanosomiasis' SubClassOf 'protozoa infectious disease' 'trypanosomiasis' SubClassOf 'protozoa infectious disease' http://purl.obolibrary.org/obo/MONDO_0007306 Klippel-Feil syndrome 1, autosomal dominant 'Klippel-Feil syndrome 1, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' 'Klippel-Feil syndrome 1, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0007301 cerebrocostomandibular syndrome 'cerebrocostomandibular syndrome' SubClassOf 'syndromic disease' 'cerebrocostomandibular syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007321 autosomal dominant chondrodysplasia punctata 'autosomal dominant chondrodysplasia punctata' SubClassOf 'autosomal dominant disease' 'autosomal dominant chondrodysplasia punctata' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007339 blepharocheilodontic syndrome 'blepharocheilodontic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'blepharocheilodontic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0007334 autosomal dominant popliteal pterygium syndrome 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'popliteal pterygium syndrome' 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'popliteal pterygium syndrome' http://purl.obolibrary.org/obo/MONDO_0007335 orofacial cleft 1 'orofacial cleft 1' SubClassOf 'orofacial cleft' 'orofacial cleft 1' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0007330 congenital pseudoarthrosis of clavicle 'congenital pseudoarthrosis of clavicle' SubClassOf 'dysostosis' 'congenital pseudoarthrosis of clavicle' SubClassOf 'dysostosis' http://purl.obolibrary.org/obo/MONDO_0007352 renal coloboma syndrome 'renal coloboma syndrome' SubClassOf 'syndromic disease' 'renal coloboma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007367 febrile seizures, familial, 1 'febrile seizures, familial, 1' SubClassOf 'febrile seizures, familial' 'febrile seizures, familial, 1' SubClassOf 'febrile seizures, familial' http://purl.obolibrary.org/obo/MONDO_0007363 congenital contractural arachnodactyly 'congenital contractural arachnodactyly' SubClassOf 'distal arthrogryposis' 'congenital contractural arachnodactyly' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0007376 fleck corneal dystrophy 'fleck corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'fleck corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0007383 Stern-Lubinsky-Durrie syndrome 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Stern-Lubinsky-Durrie syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0003685 retroperitoneal germ cell neoplasm 'retroperitoneal germ cell neoplasm' SubClassOf 'retroperitoneal neoplasm' 'retroperitoneal germ cell neoplasm' SubClassOf 'retroperitoneal neoplasm' http://purl.obolibrary.org/obo/MONDO_0013007 combined immunodeficiency due to ORAI1 deficiency 'combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' 'combined immunodeficiency due to ORAI1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' http://purl.obolibrary.org/obo/MONDO_0013008 combined immunodeficiency due to STIM1 deficiency 'combined immunodeficiency due to STIM1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' 'combined immunodeficiency due to STIM1 deficiency' SubClassOf 'combined immunodeficiency due to CRAC channel dysfunction' http://purl.obolibrary.org/obo/MONDO_0013006 isolated growth hormone deficiency type IB 'isolated growth hormone deficiency type IB' SubClassOf 'isolated congenital growth hormone deficiency' 'isolated growth hormone deficiency type IB' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0003698 penis verrucous carcinoma 'penis verrucous carcinoma' SubClassOf 'papillary carcinoma of the penis' 'penis verrucous carcinoma' SubClassOf 'papillary carcinoma of the penis' http://purl.obolibrary.org/obo/MONDO_0003690 adult anaplastic ependymoma 'adult anaplastic ependymoma' SubClassOf 'anaplastic ependymoma' 'adult anaplastic ependymoma' SubClassOf 'anaplastic ependymoma' http://purl.obolibrary.org/obo/MONDO_0013027 posterior amorphous corneal dystrophy 'posterior amorphous corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'posterior amorphous corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0013028 adenosine monophosphate deaminase deficiency 'adenosine monophosphate deaminase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'adenosine monophosphate deaminase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0013034 keratosis palmoplantaris striata 2 'keratosis palmoplantaris striata 2' SubClassOf 'striate palmoplantar keratoderma' 'keratosis palmoplantaris striata 2' SubClassOf 'striate palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0013035 orofaciodigital syndrome XI 'orofaciodigital syndrome XI' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome XI' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0013038 CLOVES syndrome 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040002 http://purl.obolibrary.org/obo/MONDO_0013032 epilepsy, idiopathic generalized, susceptibility to, 8 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0037002 benign phyllodes tumor 'benign phyllodes tumor' SubClassOf 'benign neoplasm' 'benign phyllodes tumor' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0013031 chromosome 5Q14.3 deletion syndrome, distal 'chromosome 5Q14.3 deletion syndrome, distal' SubClassOf 'periventricular nodular heterotopia' 'chromosome 5Q14.3 deletion syndrome, distal' SubClassOf 'periventricular nodular heterotopia' http://purl.obolibrary.org/obo/MONDO_0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0013046 glycogen storage disease due to muscle beta-enolase deficiency 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0013049 DPM3-congenital disorder of glycosylation 'DPM3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'DPM3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0013058 cystic leukoencephalopathy without megalencephaly 'cystic leukoencephalopathy without megalencephaly' SubClassOf 'leukodystrophy' 'cystic leukoencephalopathy without megalencephaly' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0013061 myofibrillar myopathy 6 'myofibrillar myopathy 6' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 6' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0013066 46,XY sex reversal 3 '46,XY sex reversal 3' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 3' SubClassOf '46,XY complete gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0013070 spermatogenic failure 7 'spermatogenic failure 7' SubClassOf 'azoospermia' 'spermatogenic failure 7' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0013083 neuroblastoma, susceptibility to, 3 'neuroblastoma, susceptibility to, 3' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0013088 follicular lymphoma, susceptibility to, 1 'follicular lymphoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'follicular lymphoma' 'follicular lymphoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'follicular lymphoma' http://purl.obolibrary.org/obo/MONDO_0013093 glioma susceptibility 3 'glioma susceptibility 3' SubClassOf 'glioma susceptibility' 'glioma susceptibility 3' SubClassOf 'glioma susceptibility' http://purl.obolibrary.org/obo/MONDO_0003704 uterine corpus diffuse leiomyomatosis 'uterine corpus diffuse leiomyomatosis' SubClassOf 'uterine fibroid' 'uterine corpus diffuse leiomyomatosis' SubClassOf 'uterine fibroid' http://purl.obolibrary.org/obo/MONDO_0003734 adult central nervous system immature teratoma 'adult central nervous system immature teratoma' SubClassOf 'central nervous system immature teratoma' 'adult central nervous system immature teratoma' SubClassOf 'central nervous system immature teratoma' http://purl.obolibrary.org/obo/MONDO_0003745 choroid spindle cell melanoma 'choroid spindle cell melanoma' SubClassOf 'spindle cell intraocular melanoma' 'choroid spindle cell melanoma' SubClassOf 'spindle cell intraocular melanoma' 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 'childhood testicular neoplasm' 'childhood testicular germ cell tumor' SubClassOf 'childhood gonadal germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003561 malignant giant cell tumor of soft parts 'malignant giant cell tumor of soft parts' SubClassOf 'malignant giant cell tumor' 'malignant giant cell tumor of soft parts' SubClassOf 'malignant giant cell tumor' http://purl.obolibrary.org/obo/MONDO_0003574 external ear cancer 'external ear cancer' SubClassOf 'malignant ear neoplasm' 'external ear cancer' SubClassOf 'malignant ear neoplasm' http://purl.obolibrary.org/obo/MONDO_0003636 vulvar sebaceous carcinoma 'vulvar sebaceous carcinoma' SubClassOf 'vulvar adenocarcinoma' 'vulvar sebaceous carcinoma' SubClassOf 'vulvar adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0003632 endocervicitis 'endocervicitis' SubClassOf 'cervicitis' 'endocervicitis' SubClassOf 'cervicitis' http://purl.obolibrary.org/obo/MONDO_0027407 Kleefstra syndrome 1 'Kleefstra syndrome 1' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome 1' SubClassOf 'Kleefstra syndrome' http://purl.obolibrary.org/obo/MONDO_0003434 vaginal adenoma 'vaginal adenoma' SubClassOf 'adenoma' 'vaginal adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0003443 papillary urothelial neoplasm 'papillary urothelial neoplasm' SubClassOf 'urothelial neoplasm' 'papillary urothelial neoplasm' SubClassOf 'urothelial neoplasm' http://www.ebi.ac.uk/efo/EFO_0004193 basal cell carcinoma 'basal cell carcinoma' SubClassOf 'basal cell neoplasm' 'basal cell carcinoma' SubClassOf 'basal cell neoplasm' http://www.ebi.ac.uk/efo/EFO_0004198 skin neoplasm 'skin neoplasm' SubClassOf 'skin disease' 'skin neoplasm' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0004192 alopecia areata 'alopecia areata' SubClassOf 'alopecia' 'alopecia areata' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0003480 pineal region dysgerminoma 'pineal region dysgerminoma' SubClassOf 'malignant pineal area germ cell neoplasm' 'pineal region dysgerminoma' SubClassOf 'malignant pineal area germ cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0003514 malignant teratoma 'malignant teratoma' SubClassOf 'Malignant Germ Cell Tumor' 'malignant teratoma' SubClassOf 'teratoma' 'malignant teratoma' SubClassOf 'Malignant Germ Cell Tumor' 'malignant teratoma' SubClassOf 'teratoma' http://purl.obolibrary.org/obo/MONDO_0003516 adult teratoma 'adult teratoma' SubClassOf 'adult germ cell tumor' 'adult teratoma' SubClassOf 'adult germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003518 mediastinum teratoma 'mediastinum teratoma' SubClassOf 'mediastinal germ cell tumor' 'mediastinum teratoma' SubClassOf 'mediastinal germ cell tumor' http://www.ebi.ac.uk/efo/EFO_0004129 familial amyloid neuropathy 'familial amyloid neuropathy' SubClassOf 'hereditary amyloidosis' 'familial amyloid neuropathy' SubClassOf 'hereditary amyloidosis' http://www.ebi.ac.uk/efo/EFO_0004152 chorea 'chorea' SubClassOf 'disease has major feature' some 'Chorea' 'chorea' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Chorea' http://purl.obolibrary.org/obo/MONDO_0003313 endometrioid stromal sarcoma of the vagina 'endometrioid stromal sarcoma of the vagina' SubClassOf 'endometrioid stromal and related neoplasms of the vagina' 'endometrioid stromal sarcoma of the vagina' SubClassOf 'endometrioid stromal and related neoplasms of the vagina' http://purl.obolibrary.org/obo/MONDO_0003349 central nervous system leiomyosarcoma 'central nervous system leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'central nervous system leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003357 lung leiomyosarcoma 'lung leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'lung leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003353 heart leiomyosarcoma 'heart leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'heart leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0017998 PLA2G6-associated neurodegeneration 'PLA2G6-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' 'PLA2G6-associated neurodegeneration' SubClassOf 'neurodegeneration with brain iron accumulation' http://purl.obolibrary.org/obo/MONDO_0003369 vagina leiomyosarcoma 'vagina leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'vagina leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003368 prostate leiomyosarcoma 'prostate leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'prostate leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003364 gallbladder leiomyosarcoma 'gallbladder leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003376 mediastinum leiomyosarcoma 'mediastinum leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'mediastinum leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003377 extrahepatic bile duct leiomyosarcoma 'extrahepatic bile duct leiomyosarcoma' SubClassOf 'extrahepatic bile duct sarcoma' 'extrahepatic bile duct leiomyosarcoma' SubClassOf 'extrahepatic bile duct sarcoma' http://purl.obolibrary.org/obo/MONDO_0003373 kidney leiomyosarcoma 'kidney leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'kidney leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0003371 breast leiomyosarcoma 'breast leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'breast leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0027353 autosomal recessive dyskeratosis congenita 4 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'disease shares features of' some 'dyskeratosis congenita, autosomal dominant 2' 'autosomal recessive dyskeratosis congenita 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'dyskeratosis congenita, autosomal dominant 2' 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 'adult germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003401 central nervous system endodermal sinus tumor 'central nervous system endodermal sinus tumor' SubClassOf 'childhood central nervous system germ cell tumor' 'central nervous system endodermal sinus tumor' SubClassOf 'childhood central nervous system germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0003419 Bartholin gland adenoma 'Bartholin gland adenoma' SubClassOf 'benign epithelial neoplasm' 'Bartholin gland adenoma' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0003427 bronchus adenoma 'bronchus adenoma' SubClassOf 'bronchial neoplasm' 'bronchus adenoma' SubClassOf 'bronchial neoplasm' http://purl.obolibrary.org/obo/MONDO_0003422 lung adenoma 'lung adenoma' SubClassOf 'benign epithelial neoplasm' 'lung adenoma' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0003234 optic nerve astrocytoma 'optic nerve astrocytoma' SubClassOf 'optic tract astrocytoma' 'optic nerve astrocytoma' SubClassOf 'optic tract astrocytoma' http://purl.obolibrary.org/obo/MONDO_0003249 pineal gland cancer 'pineal gland cancer' SubClassOf 'malignant endocrine neoplasm' 'pineal gland cancer' SubClassOf 'malignant endocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0003241 central nervous system hemangioma 'central nervous system hemangioma' SubClassOf 'central nervous system organ benign neoplasm' 'central nervous system hemangioma' SubClassOf 'central nervous system organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma 'MIT family translocation renal cell carcinoma' SubClassOf 'renal cell carcinoma' 'MIT family translocation renal cell carcinoma' SubClassOf 'renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0003252 granular cell cancer 'granular cell cancer' SubClassOf 'peripheral nervous system cancer' 'granular cell cancer' SubClassOf 'peripheral nervous system cancer' http://purl.obolibrary.org/obo/MONDO_0017893 inherited acute myeloid leukemia 'inherited acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' 'inherited acute myeloid leukemia' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0017894 acute myeloid leukemia with CEBPA somatic mutations 'acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia with CEBPA somatic mutations' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0003278 inner ear cancer 'inner ear cancer' SubClassOf 'malignant ear neoplasm' 'inner ear cancer' SubClassOf 'malignant ear neoplasm' http://purl.obolibrary.org/obo/MONDO_0003274 thoracic cancer 'thoracic cancer' SubClassOf 'cancer' 'thoracic cancer' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0003275 middle ear cancer 'middle ear cancer' SubClassOf 'malignant ear neoplasm' 'middle ear cancer' SubClassOf 'malignant ear neoplasm' http://purl.obolibrary.org/obo/MONDO_0003276 middle ear disorder 'middle ear disorder' SubClassOf 'auditory system disease' 'middle ear disorder' SubClassOf 'auditory system disease' http://purl.obolibrary.org/obo/MONDO_0003297 gallbladder leiomyoma 'gallbladder leiomyoma' SubClassOf 'benign neoplasm of gallbladder' 'gallbladder leiomyoma' SubClassOf 'benign neoplasm of gallbladder' http://purl.obolibrary.org/obo/MONDO_0003298 vulvar leiomyoma 'vulvar leiomyoma' SubClassOf 'vulvar benign neoplasm' 'vulvar leiomyoma' SubClassOf 'vulvar benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0017906 amyloidosis cutis dyschromia 'amyloidosis cutis dyschromia' SubClassOf 'primary cutaneous amyloidosis' 'amyloidosis cutis dyschromia' SubClassOf 'primary cutaneous amyloidosis' http://purl.obolibrary.org/obo/MONDO_0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'mycobacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'mycobacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0017910 dehydrated hereditary stomatocytosis 'dehydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' 'dehydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0017719 gangliosidosis 'gangliosidosis' SubClassOf 'sphingolipidosis' 'gangliosidosis' SubClassOf 'sphingolipidosis' http://www.ebi.ac.uk/efo/EFO_0004289 lymphoid leukemia 'lymphoid leukemia' SubClassOf 'leukemia' 'lymphoid leukemia' SubClassOf 'leukemia' http://purl.obolibrary.org/obo/MONDO_0017720 GM2 gangliosidosis 'GM2 gangliosidosis' SubClassOf 'gangliosidosis' 'GM2 gangliosidosis' SubClassOf 'gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0017736 disorder of sialic acid metabolism 'disorder of sialic acid metabolism' SubClassOf 'lysosomal storage disease' 'disorder of sialic acid metabolism' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0017731 glycoproteinosis 'glycoproteinosis' SubClassOf 'lysosomal storage disease' 'glycoproteinosis' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0017734 sialidosis 'sialidosis' SubClassOf 'oligosaccharidosis' 'sialidosis' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0017746 atypical Rett syndrome 'atypical Rett syndrome' SubClassOf 'disease shares features of' some 'Rett syndrome' 'atypical Rett syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Rett syndrome' http://purl.obolibrary.org/obo/MONDO_0003110 skin hemangioma 'skin hemangioma' SubClassOf 'benign epithelial skin neoplasm' 'skin hemangioma' SubClassOf 'epithelial skin neoplasm' 'skin hemangioma' SubClassOf 'benign neoplasm of skin' http://purl.obolibrary.org/obo/MONDO_0003111 gastric neuroendocrine neoplasm 'gastric neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' 'gastric neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0003124 testicular Leydig cell tumor 'testicular Leydig cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' 'testicular Leydig cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' http://purl.obolibrary.org/obo/MONDO_0017762 disorder of copper metabolism 'disorder of copper metabolism' SubClassOf 'disorder of mineral absorption and transport' 'disorder of copper metabolism' SubClassOf 'disorder of mineral absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017779 alpha-N-acetylgalactosaminidase deficiency 'alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'oligosaccharidosis' 'alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic disease' 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0003153 adult brainstem glioma 'adult brainstem glioma' SubClassOf 'adult brain stem neoplasm' 'adult brainstem glioma' SubClassOf 'adult brain stem neoplasm' http://purl.obolibrary.org/obo/MONDO_0003154 hemangioma of peripheral nerve 'hemangioma of peripheral nerve' SubClassOf 'benign neoplasm of peripheral nervous system' 'hemangioma of peripheral nerve' SubClassOf 'benign neoplasm of peripheral nervous system' http://purl.obolibrary.org/obo/MONDO_0003164 cauda equina neoplasm 'cauda equina neoplasm' SubClassOf 'nerve root neoplasm' 'cauda equina neoplasm' SubClassOf 'nerve root neoplasm' http://purl.obolibrary.org/obo/MONDO_0003165 cerebellar astrocytoma 'cerebellar astrocytoma' SubClassOf 'cerebellar neoplasm' 'cerebellar astrocytoma' SubClassOf 'cerebellar neoplasm' http://www.ebi.ac.uk/efo/EFO_0004259 osteonecrosis 'osteonecrosis' SubClassOf 'bone disease' 'osteonecrosis' SubClassOf 'bone disease' http://www.ebi.ac.uk/efo/EFO_0004276 Stevens-Johnson syndrome 'Stevens-Johnson syndrome' SubClassOf 'toxic epidermal necrolysis' 'Stevens-Johnson syndrome' SubClassOf 'toxic epidermal necrolysis' http://purl.obolibrary.org/obo/MONDO_0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'overgrowth syndrome' 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040002 http://purl.obolibrary.org/obo/MONDO_0017814 primary bone lymphoma 'primary bone lymphoma' SubClassOf 'Malignant Bone Neoplasm' 'primary bone lymphoma' SubClassOf 'primary organ-specific lymphoma' 'primary bone lymphoma' SubClassOf 'Malignant Bone Neoplasm' 'primary bone lymphoma' SubClassOf 'primary organ-specific lymphoma' http://purl.obolibrary.org/obo/MONDO_0017810 variant ABeta2M amyloidosis 'variant ABeta2M amyloidosis' SubClassOf 'ABeta2M amyloidosis' 'variant ABeta2M amyloidosis' SubClassOf 'ABeta2M amyloidosis' 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' 'movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormality of movement' 'movement disorder' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormality of movement') http://purl.obolibrary.org/obo/MONDO_0017824 familial isolated pituitary adenoma 'familial isolated pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' 'familial isolated pituitary adenoma' SubClassOf 'Pituitary Gland Adenoma' http://purl.obolibrary.org/obo/MONDO_0003005 macular retinal edema 'macular retinal edema' SubClassOf 'retinal edema' 'macular retinal edema' SubClassOf 'retinal edema' http://purl.obolibrary.org/obo/MONDO_0003001 seminoma 'seminoma' SubClassOf 'germinomatous germ cell tumor' 'seminoma' SubClassOf 'germinomatous germ cell tumor' 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 'peritoneum cancer' http://purl.obolibrary.org/obo/MONDO_0003026 gallbladder angiosarcoma 'gallbladder angiosarcoma' SubClassOf 'angiosarcoma' http://purl.obolibrary.org/obo/MONDO_0017666 diffuse palmoplantar keratoderma 'diffuse palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' 'diffuse palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0017672 focal palmoplantar keratoderma 'focal palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' 'focal palmoplantar keratoderma' SubClassOf 'hereditary palmoplantar keratoderma' 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 'thymic neuroendocrine carcinoma' http://purl.obolibrary.org/obo/MONDO_0003053 choroid plexus meningioma 'choroid plexus meningioma' SubClassOf 'choroid plexus cancer' 'choroid plexus meningioma' SubClassOf 'choroid plexus cancer' http://purl.obolibrary.org/obo/MONDO_0003091 cutaneous mucoepidermoid carcinoma 'cutaneous mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'cutaneous mucoepidermoid carcinoma' SubClassOf 'skin carcinoma' 'cutaneous mucoepidermoid carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'cutaneous mucoepidermoid carcinoma' SubClassOf 'skin carcinoma' 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' 'mitochondrial respiratory chain complex III' SubClassOf http://www.w3.org/2002/07/owl#Thing 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' 'mitochondrial proton-transporting ATP synthase complex' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0003093 mucoepidermoid esophageal carcinoma 'mucoepidermoid esophageal carcinoma' SubClassOf 'mucoepidermoid carcinoma' 'mucoepidermoid esophageal carcinoma' SubClassOf 'mucoepidermoid carcinoma' http://purl.obolibrary.org/obo/MONDO_0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 'mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' 'mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0017504 apodia, unilateral 'apodia, unilateral' SubClassOf 'apodia' 'apodia, unilateral' SubClassOf 'apodia' http://purl.obolibrary.org/obo/MONDO_0017505 apodia, bilateral 'apodia, bilateral' SubClassOf 'apodia' 'apodia, bilateral' SubClassOf 'apodia' http://purl.obolibrary.org/obo/MONDO_0017500 congenital absence of both lower leg and foot, unilateral 'congenital absence of both lower leg and foot, unilateral' SubClassOf 'congenital absence of both lower leg and foot' 'congenital absence of both lower leg and foot, unilateral' SubClassOf 'congenital absence of both lower leg and foot' http://purl.obolibrary.org/obo/MONDO_0017501 congenital absence of both lower leg and foot, bilateral 'congenital absence of both lower leg and foot, bilateral' SubClassOf 'congenital absence of both lower leg and foot' 'congenital absence of both lower leg and foot, bilateral' SubClassOf 'congenital absence of both lower leg and foot' http://purl.obolibrary.org/obo/MONDO_0017502 acheiria, unilateral 'acheiria, unilateral' SubClassOf 'acheiria' 'acheiria, unilateral' SubClassOf 'acheiria' http://purl.obolibrary.org/obo/MONDO_0017503 acheiria, bilateral 'acheiria, bilateral' SubClassOf 'acheiria' 'acheiria, bilateral' SubClassOf 'acheiria' http://purl.obolibrary.org/obo/MONDO_0017511 split hand, unilateral 'split hand, unilateral' SubClassOf 'split hand' 'split hand, unilateral' SubClassOf 'split hand' http://purl.obolibrary.org/obo/MONDO_0017512 split hand, bilateral 'split hand, bilateral' SubClassOf 'split hand' 'split hand, bilateral' SubClassOf 'split hand' http://purl.obolibrary.org/obo/MONDO_0017513 split foot, unilateral 'split foot, unilateral' SubClassOf 'split foot' 'split foot, unilateral' SubClassOf 'split foot' http://purl.obolibrary.org/obo/MONDO_0017514 split foot, bilateral 'split foot, bilateral' SubClassOf 'split foot' 'split foot, bilateral' SubClassOf 'split foot' http://purl.obolibrary.org/obo/MONDO_0017526 polydactyly of a triphalangeal thumb, bilateral 'polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'polydactyly of a triphalangeal thumb' 'polydactyly of a triphalangeal thumb, bilateral' SubClassOf 'polydactyly of a triphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017527 polydactyly of an index finger, unilateral 'polydactyly of an index finger, unilateral' SubClassOf 'polydactyly of an index finger' 'polydactyly of an index finger, unilateral' SubClassOf 'polydactyly of an index finger' http://purl.obolibrary.org/obo/MONDO_0017528 polydactyly of an index finger, bilateral 'polydactyly of an index finger, bilateral' SubClassOf 'polydactyly of an index finger' 'polydactyly of an index finger, bilateral' SubClassOf 'polydactyly of an index finger' http://purl.obolibrary.org/obo/MONDO_0017529 polysyndactyly, unilateral 'polysyndactyly, unilateral' SubClassOf 'polysyndactyly 4' 'polysyndactyly, unilateral' SubClassOf 'polysyndactyly 4' http://purl.obolibrary.org/obo/MONDO_0017522 hyperphalangy, bilateral 'hyperphalangy, bilateral' SubClassOf 'hyperphalangy' 'hyperphalangy, bilateral' SubClassOf 'hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0017525 polydactyly of a triphalangeal thumb, unilateral 'polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'polydactyly of a triphalangeal thumb' 'polydactyly of a triphalangeal thumb, unilateral' SubClassOf 'polydactyly of a triphalangeal thumb' http://purl.obolibrary.org/obo/MONDO_0017521 hyperphalangy, unilateral 'hyperphalangy, unilateral' SubClassOf 'hyperphalangy' 'hyperphalangy, unilateral' SubClassOf 'hyperphalangy' http://purl.obolibrary.org/obo/MONDO_0017537 Preaxial polydactyly of toes, unilateral 'Preaxial polydactyly of toes, unilateral' SubClassOf 'Preaxial polydactyly of toes' 'Preaxial polydactyly of toes, unilateral' SubClassOf 'Preaxial polydactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017538 Preaxial polydactyly of toes, bilateral 'Preaxial polydactyly of toes, bilateral' SubClassOf 'Preaxial polydactyly of toes' 'Preaxial polydactyly of toes, bilateral' SubClassOf 'Preaxial polydactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017533 postaxial polydactyly type B, unilateral 'postaxial polydactyly type B, unilateral' SubClassOf 'postaxial polydactyly type B' 'postaxial polydactyly type B, unilateral' SubClassOf 'postaxial polydactyly type B' http://purl.obolibrary.org/obo/MONDO_0017534 postaxial polydactyly type B, bilateral 'postaxial polydactyly type B, bilateral' SubClassOf 'postaxial polydactyly type B' 'postaxial polydactyly type B, bilateral' SubClassOf 'postaxial polydactyly type B' http://purl.obolibrary.org/obo/MONDO_0017535 central polydactyly of fingers, unilateral 'central polydactyly of fingers, unilateral' SubClassOf 'central polydactyly of fingers' 'central polydactyly of fingers, unilateral' SubClassOf 'central polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017536 central polydactyly of fingers, bilateral 'central polydactyly of fingers, bilateral' SubClassOf 'central polydactyly of fingers' 'central polydactyly of fingers, bilateral' SubClassOf 'central polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017530 polysyndactyly, bilateral 'polysyndactyly, bilateral' SubClassOf 'polysyndactyly 4' 'polysyndactyly, bilateral' SubClassOf 'polysyndactyly 4' http://purl.obolibrary.org/obo/MONDO_0017531 postaxial polydactyly type A, unilateral 'postaxial polydactyly type A, unilateral' SubClassOf 'postaxial polydactyly type A' 'postaxial polydactyly type A, unilateral' SubClassOf 'postaxial polydactyly type A' http://purl.obolibrary.org/obo/MONDO_0017532 postaxial polydactyly type A, bilateral 'postaxial polydactyly type A, bilateral' SubClassOf 'postaxial polydactyly type A' 'postaxial polydactyly type A, bilateral' SubClassOf 'postaxial polydactyly type A' http://purl.obolibrary.org/obo/MONDO_0017548 humero-radio-ulnar synostosis, unilateral 'humero-radio-ulnar synostosis, unilateral' SubClassOf 'humero-radio-ulnar synostosis' 'humero-radio-ulnar synostosis, unilateral' SubClassOf 'humero-radio-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017549 humero-radio-ulnar synostosis, bilateral 'humero-radio-ulnar synostosis, bilateral' SubClassOf 'humero-radio-ulnar synostosis' 'humero-radio-ulnar synostosis, bilateral' SubClassOf 'humero-radio-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017544 zygodactyly type 3 'zygodactyly type 3' SubClassOf 'syndactyly type 1' 'zygodactyly type 3' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0017545 zygodactyly type 4 'zygodactyly type 4' SubClassOf 'syndactyly type 1' 'zygodactyly type 4' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0017546 congenital vertical talus, unilateral 'congenital vertical talus, unilateral' SubClassOf 'congenital vertical talus' 'congenital vertical talus, unilateral' SubClassOf 'congenital vertical talus' http://purl.obolibrary.org/obo/MONDO_0017547 congenital vertical talus, bilateral 'congenital vertical talus, bilateral' SubClassOf 'congenital vertical talus' 'congenital vertical talus, bilateral' SubClassOf 'congenital vertical talus' http://purl.obolibrary.org/obo/MONDO_0017543 zygodactyly type 2 'zygodactyly type 2' SubClassOf 'syndactyly type 1' 'zygodactyly type 2' SubClassOf 'syndactyly type 1' http://purl.obolibrary.org/obo/MONDO_0017559 congenital elbow dislocation, bilateral 'congenital elbow dislocation, bilateral' SubClassOf 'congenital elbow dislocation' 'congenital elbow dislocation, bilateral' SubClassOf 'congenital elbow dislocation' http://purl.obolibrary.org/obo/MONDO_0017555 radio-ulnar synostosis, bilateral 'radio-ulnar synostosis, bilateral' SubClassOf 'congenital radioulnar synostosis' 'radio-ulnar synostosis, bilateral' SubClassOf 'congenital radioulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017556 Madelung deformity, unilateral 'Madelung deformity, unilateral' SubClassOf 'Madelung deformity' 'Madelung deformity, unilateral' SubClassOf 'Madelung deformity' http://purl.obolibrary.org/obo/MONDO_0017557 Madelung deformity, bilateral 'Madelung deformity, bilateral' SubClassOf 'Madelung deformity' 'Madelung deformity, bilateral' SubClassOf 'Madelung deformity' http://purl.obolibrary.org/obo/MONDO_0017558 congenital elbow dislocation, unilateral 'congenital elbow dislocation, unilateral' SubClassOf 'congenital elbow dislocation' 'congenital elbow dislocation, unilateral' SubClassOf 'congenital elbow dislocation' http://purl.obolibrary.org/obo/MONDO_0017551 humero-radial synostosis, bilateral 'humero-radial synostosis, bilateral' SubClassOf 'humeroradial synostosis' 'humero-radial synostosis, bilateral' SubClassOf 'humeroradial synostosis' http://purl.obolibrary.org/obo/MONDO_0017552 humero-ulnar synostosis, unilateral 'humero-ulnar synostosis, unilateral' SubClassOf 'humero-ulnar synostosis' 'humero-ulnar synostosis, unilateral' SubClassOf 'humero-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017553 humero-ulnar synostosis, bilateral 'humero-ulnar synostosis, bilateral' SubClassOf 'humero-ulnar synostosis' 'humero-ulnar synostosis, bilateral' SubClassOf 'humero-ulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017554 radio-ulnar synostosis, unilateral 'radio-ulnar synostosis, unilateral' SubClassOf 'congenital radioulnar synostosis' 'radio-ulnar synostosis, unilateral' SubClassOf 'congenital radioulnar synostosis' http://purl.obolibrary.org/obo/MONDO_0017550 humero-radial synostosis, unilateral 'humero-radial synostosis, unilateral' SubClassOf 'humeroradial synostosis' 'humero-radial synostosis, unilateral' SubClassOf 'humeroradial synostosis' http://purl.obolibrary.org/obo/MONDO_0017566 macrodactyly of toes, unilateral 'macrodactyly of toes, unilateral' SubClassOf 'macrodactyly of toes' 'macrodactyly of toes, unilateral' SubClassOf 'macrodactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017567 macrodactyly of toes, bilateral 'macrodactyly of toes, bilateral' SubClassOf 'macrodactyly of toes' 'macrodactyly of toes, bilateral' SubClassOf 'macrodactyly of toes' http://purl.obolibrary.org/obo/MONDO_0017569 de Barsy syndrome 'de Barsy syndrome' SubClassOf 'autosomal recessive disease' 'de Barsy syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0017562 congenital patella dislocation, unilateral 'congenital patella dislocation, unilateral' SubClassOf 'congenital patella dislocation' 'congenital patella dislocation, unilateral' SubClassOf 'congenital patella dislocation' http://purl.obolibrary.org/obo/MONDO_0017563 congenital patella dislocation, bilateral 'congenital patella dislocation, bilateral' SubClassOf 'congenital patella dislocation' 'congenital patella dislocation, bilateral' SubClassOf 'congenital patella dislocation' http://purl.obolibrary.org/obo/MONDO_0017564 macrodactyly of fingers, unilateral 'macrodactyly of fingers, unilateral' SubClassOf 'macrodactyly of fingers' 'macrodactyly of fingers, unilateral' SubClassOf 'macrodactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017565 macrodactyly of fingers, bilateral 'macrodactyly of fingers, bilateral' SubClassOf 'macrodactyly of fingers' 'macrodactyly of fingers, bilateral' SubClassOf 'macrodactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0017560 congenital genu recurvatum 'congenital genu recurvatum' SubClassOf 'congenital knee dislocation' 'congenital genu recurvatum' SubClassOf 'congenital knee dislocation' http://purl.obolibrary.org/obo/MONDO_0017561 congenital genu flexum 'congenital genu flexum' SubClassOf 'congenital knee dislocation' 'congenital genu flexum' SubClassOf 'congenital knee dislocation' http://purl.obolibrary.org/obo/MONDO_0017579 Baraitser-Winter cerebrofrontofacial syndrome 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'syndromic disease' 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017570 leukocyte adhesion deficiency 'leukocyte adhesion deficiency' SubClassOf 'functional neutrophil defect' 'leukocyte adhesion deficiency' SubClassOf 'functional neutrophil defect' http://purl.obolibrary.org/obo/MONDO_0017571 Proteus-like syndrome 'Proteus-like syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus-like syndrome' SubClassOf 'disease shares features of' some 'Proteus syndrome' 'Proteus-like syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Proteus syndrome' http://purl.obolibrary.org/obo/MONDO_0017595 aggressive B-cell non-Hodgkin lymphoma 'aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' 'aggressive B-cell non-Hodgkin lymphoma' SubClassOf 'B-cell non-Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0017596 diffuse large B-cell lymphoma of the central nervous system 'diffuse large B-cell lymphoma of the central nervous system' SubClassOf 'diffuse large B-cell lymphoma' 'diffuse large B-cell lymphoma of the central nervous system' SubClassOf 'diffuse large B-cell lymphoma' http://purl.obolibrary.org/obo/MONDO_0957955 immunodeficiency 114, folate-responsive 'immunodeficiency 114, folate-responsive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971066 http://purl.obolibrary.org/obo/MONDO_0023297 guttate psoriasis 'guttate psoriasis' SubClassOf 'psoriasis' 'guttate psoriasis' SubClassOf 'psoriasis' http://purl.obolibrary.org/obo/MONDO_0013901 spermatogenic failure 10 'spermatogenic failure 10' SubClassOf 'azoospermia' 'spermatogenic failure 10' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0013925 methylmalonic acidemia with homocystinuria, type cblJ 'methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic acidemia with homocystinuria, type cblJ' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013947 neuronopathy, distal hereditary motor, autosomal recessive 5 'neuronopathy, distal hereditary motor, autosomal recessive 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 5' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' http://purl.obolibrary.org/obo/GO_0030416 methylamine metabolic process 'methylamine metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'methylamine metabolic process' SubClassOf 'metabolic process' http://purl.obolibrary.org/obo/MONDO_0013953 immunodeficiency 28 'immunodeficiency 28' SubClassOf 'inborn error of immunity' 'immunodeficiency 28' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0013968 PGM1-congenital disorder of glycosylation 'PGM1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'PGM1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0013969 combined oxidative phosphorylation defect type 11 'combined oxidative phosphorylation defect type 11' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 11' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013977 combined oxidative phosphorylation defect type 13 'combined oxidative phosphorylation defect type 13' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 13' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013971 leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' 'leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013972 Perrault syndrome 2 'Perrault syndrome 2' SubClassOf 'Perrault syndrome' 'Perrault syndrome 2' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0013975 ectodermal dysplasia 7, hair/nail type 'ectodermal dysplasia 7, hair/nail type' SubClassOf 'pure hair and nail ectodermal dysplasia' 'ectodermal dysplasia 7, hair/nail type' SubClassOf 'pure hair and nail ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013989 developmental and epileptic encephalopathy, 14 'developmental and epileptic encephalopathy, 14' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 14' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013986 combined oxidative phosphorylation defect type 14 'combined oxidative phosphorylation defect type 14' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 14' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013987 combined oxidative phosphorylation defect type 15 'combined oxidative phosphorylation defect type 15' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 15' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0859578 lacrimoauriculodentodigital syndrome 3 'lacrimoauriculodentodigital syndrome 3' SubClassOf 'LADD syndrome' 'lacrimoauriculodentodigital syndrome 3' SubClassOf 'LADD syndrome' http://purl.obolibrary.org/obo/MONDO_0859523 congenital myopathy 2c, severe infantile, autosomal dominant 'congenital myopathy 2c, severe infantile, autosomal dominant' SubClassOf 'congenital myopathy' 'congenital myopathy 2c, severe infantile, autosomal dominant' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0859517 congenital myopathy 2b, severe infantile, autosomal recessive 'congenital myopathy 2b, severe infantile, autosomal recessive' SubClassOf 'congenital myopathy' 'congenital myopathy 2b, severe infantile, autosomal recessive' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0859518 leukodystrophy, hypomyelinating, 26, with chondrodysplasia 'leukodystrophy, hypomyelinating, 26, with chondrodysplasia' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 26, with chondrodysplasia' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0859514 congenital myopathy 18 'congenital myopathy 18' SubClassOf 'congenital myopathy' 'congenital myopathy 18' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0013805 intellectual disability, autosomal dominant 13 'intellectual disability, autosomal dominant 13' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040031 http://purl.obolibrary.org/obo/MONDO_0013819 intellectual disability, autosomal dominant 14 'intellectual disability, autosomal dominant 14' SubClassOf 'Coffin-Siris syndrome' 'intellectual disability, autosomal dominant 14' SubClassOf 'Coffin-Siris syndrome' http://purl.obolibrary.org/obo/MONDO_0013810 COG6-ongenital disorder of glycosylation 'COG6-ongenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG6-ongenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0013811 combined oxidative phosphorylation defect type 9 'combined oxidative phosphorylation defect type 9' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 9' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013821 intellectual disability, autosomal dominant 16 'intellectual disability, autosomal dominant 16' SubClassOf 'Coffin-Siris syndrome' 'intellectual disability, autosomal dominant 16' SubClassOf 'Coffin-Siris syndrome' http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness 'familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'coenzyme Q10 deficiency' 'familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0013837 deafness-encephaloneuropathy-obesity-valvulopathy syndrome 'deafness-encephaloneuropathy-obesity-valvulopathy syndrome' SubClassOf 'coenzyme Q10 deficiency' 'deafness-encephaloneuropathy-obesity-valvulopathy syndrome' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0013838 coenzyme Q10 deficiency, primary, 3 'coenzyme Q10 deficiency, primary, 3' SubClassOf 'coenzyme Q10 deficiency' 'coenzyme Q10 deficiency, primary, 3' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 'encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome' SubClassOf 'coenzyme Q10 deficiency' 'encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/GO_0005355 glucose transmembrane transporter activity 'glucose transmembrane transporter activity' SubClassOf 'molecular_function' 'glucose transmembrane transporter activity' SubClassOf 'part of' some 'glucose transmembrane transport' 'glucose transmembrane transporter activity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013855 influenza, severe, susceptibility to 'influenza, severe, susceptibility to' SubClassOf 'predisposes towards' some 'influenza' 'influenza, severe, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'influenza' http://purl.obolibrary.org/obo/MONDO_0013869 adenine phosphoribosyltransferase deficiency 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' 'adenine phosphoribosyltransferase deficiency' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0013862 immunodeficiency, common variable, 7 'immunodeficiency, common variable, 7' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 7' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013865 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 'mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' 'mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013863 combined immunodeficiency due to LRBA deficiency 'combined immunodeficiency due to LRBA deficiency' SubClassOf 'common variable immunodeficiency' 'combined immunodeficiency due to LRBA deficiency' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013872 prostate cancer, hereditary, 2 'prostate cancer, hereditary, 2' SubClassOf 'familial prostate carcinoma' 'prostate cancer, hereditary, 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700275 http://purl.obolibrary.org/obo/MONDO_0013870 TMEM165-congenital disorder of glycosylation 'TMEM165-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'TMEM165-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0013876 basal cell carcinoma, susceptibility to, 7 'basal cell carcinoma, susceptibility to, 7' SubClassOf 'predisposes towards' some 'skin basal cell carcinoma' 'basal cell carcinoma, susceptibility to, 7' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'skin basal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0013877 mitochondrial pyruvate carrier deficiency 'mitochondrial pyruvate carrier deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'autosomal recessive disease' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'inborn mitochondrial metabolism disorder' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0013890 congenital myopathy with internal nuclei and atypical cores 'congenital myopathy with internal nuclei and atypical cores' SubClassOf 'centronuclear myopathy' 'congenital myopathy with internal nuclei and atypical cores' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0023246 linear porokeratosis 'linear porokeratosis' SubClassOf 'porokeratosis' 'linear porokeratosis' SubClassOf 'porokeratosis' http://www.ebi.ac.uk/efo/EFO_0008525 spinal muscular atrophy 'spinal muscular atrophy' SubClassOf 'motor neuron disease' 'spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' http://www.ebi.ac.uk/efo/EFO_0008550 Hepatobiliary Neoplasm 'Hepatobiliary Neoplasm' SubClassOf 'hepatobiliary disease' 'Hepatobiliary Neoplasm' SubClassOf 'hepatobiliary disease' http://purl.obolibrary.org/obo/MONDO_0859267 tumor predisposition syndrome 2 'tumor predisposition syndrome 2' SubClassOf 'hereditary neoplastic syndrome' 'tumor predisposition syndrome 2' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism 'intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism' SubClassOf 'genetic disorder' 'intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971063 http://purl.obolibrary.org/obo/MONDO_0859234 agammaglobulinemia 8b, autosomal recessive 'agammaglobulinemia 8b, autosomal recessive' SubClassOf 'agammaglobulinemia' 'agammaglobulinemia 8b, autosomal recessive' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0859228 combined oxidative phosphorylation deficiency 55 'combined oxidative phosphorylation deficiency 55' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 55' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013702 intellectual disability, autosomal recessive 27 'intellectual disability, autosomal recessive 27' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 27' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013713 dengue virus, susceptibility to 'dengue virus, susceptibility to' SubClassOf 'predisposes towards' some 'dengue disease' 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'dengue disease') 'dengue virus, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'dengue disease' 'dengue virus, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'dengue disease') http://purl.obolibrary.org/obo/MONDO_0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'autosomal dominant distal myopathy' 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'genetic disorder' 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0013726 encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 'encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1' SubClassOf 'encephalopathy due to mitochondrial and peroxisomal fission defect' 'encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1' SubClassOf 'encephalopathy due to mitochondrial and peroxisomal fission defect' http://purl.obolibrary.org/obo/MONDO_0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'leukodystrophy' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700277 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700282 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0013730 graft versus host disease 'graft versus host disease' SubClassOf 'immune system disease' 'graft versus host disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-related myopathy 'MEGF10-related myopathy' SubClassOf 'congenital myopathy' 'MEGF10-related myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0013741 familial temporal lobe epilepsy 5 'familial temporal lobe epilepsy 5' SubClassOf 'temporal lobe epilepsy' 'familial temporal lobe epilepsy 5' SubClassOf 'temporal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0013759 melanoma, cutaneous malignant, susceptibility to, 8 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf 'susceptibility to familial cutaneous melanoma' 'melanoma, cutaneous malignant, susceptibility to, 8' SubClassOf 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0013751 cutis laxa, autosomal dominant 2 'cutis laxa, autosomal dominant 2' SubClassOf 'autosomal dominant cutis laxa' 'cutis laxa, autosomal dominant 2' SubClassOf 'autosomal dominant cutis laxa' http://purl.obolibrary.org/obo/MONDO_0037748 hyperlipoproteinemia 'hyperlipoproteinemia' SubClassOf 'disease has major feature' some 'Hyperlipoproteinemia' 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and ('disease has major feature' some 'Hyperlipoproteinemia') 'hyperlipoproteinemia' EquivalentTo 'metabolic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipoproteinemia') 'hyperlipoproteinemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperlipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0013774 trigonocephaly 2 'trigonocephaly 2' SubClassOf 'isolated trigonocephaly' 'trigonocephaly 2' SubClassOf 'isolated trigonocephaly' http://purl.obolibrary.org/obo/MONDO_0013777 pseudohypoaldosteronism type 2B 'pseudohypoaldosteronism type 2B' SubClassOf 'pseudohypoaldosteronism type 2' 'pseudohypoaldosteronism type 2B' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0013778 pseudohypoaldosteronism type 2C 'pseudohypoaldosteronism type 2C' SubClassOf 'pseudohypoaldosteronism type 2' 'pseudohypoaldosteronism type 2C' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0013782 pseudohypoaldosteronism type 2E 'pseudohypoaldosteronism type 2E' SubClassOf 'pseudohypoaldosteronism type 2' 'pseudohypoaldosteronism type 2E' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0013789 DDOST-congenital disorder of glycosylation 'DDOST-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'DDOST-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0013781 pseudohypoaldosteronism type 2D 'pseudohypoaldosteronism type 2D' SubClassOf 'pseudohypoaldosteronism type 2' 'pseudohypoaldosteronism type 2D' SubClassOf 'pseudohypoaldosteronism type 2' http://purl.obolibrary.org/obo/MONDO_0023122 familial prostate carcinoma 'familial prostate carcinoma' SubClassOf 'genetic disorder' 'familial prostate carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700275 http://purl.obolibrary.org/obo/MONDO_0013795 fibrochondrogenesis 2 'fibrochondrogenesis 2' SubClassOf 'fibrochondrogenesis' 'fibrochondrogenesis 2' SubClassOf 'fibrochondrogenesis' http://www.ebi.ac.uk/efo/EFO_0008519 primary hyperparathyroidism 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' 'primary hyperparathyroidism' SubClassOf 'hyperparathyroidism' http://www.ebi.ac.uk/efo/EFO_0008506 hyperparathyroidism 'hyperparathyroidism' SubClassOf 'disease has major feature' some 'Hyperparathyroidism' 'hyperparathyroidism' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0013597 platelet-type bleeding disorder 14 'platelet-type bleeding disorder 14' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 14' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'chronic mucocutaneous candidiasis' 'autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome' SubClassOf 'chronic mucocutaneous candidiasis' http://purl.obolibrary.org/obo/MONDO_0013591 epiphyseal dysplasia, multiple, 6 'epiphyseal dysplasia, multiple, 6' SubClassOf 'multiple epiphyseal dysplasia due to collagen 9 anomaly' 'epiphyseal dysplasia, multiple, 6' SubClassOf 'multiple epiphyseal dysplasia due to collagen 9 anomaly' http://purl.obolibrary.org/obo/MONDO_0859346 mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 'mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition' SubClassOf 'mosaic variegated aneuploidy syndrome' 'mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition' SubClassOf 'mosaic variegated aneuploidy syndrome' http://purl.obolibrary.org/obo/MONDO_0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy 'hypomagnesemia 7, renal, with or without dilated cardiomyopathy' SubClassOf 'familial primary hypomagnesemia' 'hypomagnesemia 7, renal, with or without dilated cardiomyopathy' SubClassOf 'familial primary hypomagnesemia' http://purl.obolibrary.org/obo/MONDO_0859317 pseudohypoaldosteronism, type IB2, autosomal recessive 'pseudohypoaldosteronism, type IB2, autosomal recessive' SubClassOf 'inherited pseudohypoaldosteronism' 'pseudohypoaldosteronism, type IB2, autosomal recessive' SubClassOf 'pseudohypoaldosteronism type 1' http://purl.obolibrary.org/obo/MONDO_0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 'neuronopathy, distal hereditary motor, autosomal dominant 10' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'neuronopathy, distal hereditary motor, autosomal dominant 10' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0013616 pigmented nodular adrenocortical disease, primary, 3 'pigmented nodular adrenocortical disease, primary, 3' SubClassOf 'primary pigmented nodular adrenocortical disease' 'pigmented nodular adrenocortical disease, primary, 3' SubClassOf 'primary pigmented nodular adrenocortical disease' http://purl.obolibrary.org/obo/MONDO_0013612 geleophysic dysplasia 2 'geleophysic dysplasia 2' SubClassOf 'geleophysic dysplasia' 'geleophysic dysplasia 2' SubClassOf 'geleophysic dysplasia' http://purl.obolibrary.org/obo/MONDO_0013626 psoriasis 14, pustular 'psoriasis 14, pustular' SubClassOf 'psoriasis' 'psoriasis 14, pustular' SubClassOf 'psoriasis' http://purl.obolibrary.org/obo/MONDO_0013623 platelet-type bleeding disorder 11 'platelet-type bleeding disorder 11' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 11' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0013624 Rafiq syndrome 'Rafiq syndrome' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'Rafiq syndrome' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0013622 platelet-type bleeding disorder 9 'platelet-type bleeding disorder 9' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 9' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/CL_0002062 pulmonary alveolar type 1 cell 'pulmonary alveolar type 1 cell' SubClassOf 'squamous epithelial cell' http://purl.obolibrary.org/obo/CL_0002063 pulmonary alveolar type 2 cell 'pulmonary alveolar type 2 cell' SubClassOf 'squamous epithelial cell' http://purl.obolibrary.org/obo/MONDO_0013644 Charcot-Marie-Tooth disease axonal type 2O 'Charcot-Marie-Tooth disease axonal type 2O' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040031 http://purl.obolibrary.org/obo/MONDO_0013675 multiple mitochondrial dysfunctions syndrome 2 'multiple mitochondrial dysfunctions syndrome 2' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 2' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0013685 pancreatic cancer, susceptibility to, 4 'pancreatic cancer, susceptibility to, 4' SubClassOf 'predisposes towards' some 'Malignant Pancreatic Neoplasm' 'pancreatic cancer, susceptibility to, 4' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Malignant Pancreatic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0013477 hypertrophic cardiomyopathy 20 'hypertrophic cardiomyopathy 20' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 20' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013474 hypertrophic cardiomyopathy 17 'hypertrophic cardiomyopathy 17' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 17' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013478 PLIN1-related familial partial lipodystrophy 'PLIN1-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'PLIN1-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0013472 fatal infantile hypertonic myofibrillar myopathy 'fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'myofibrillar myopathy' 'fatal infantile hypertonic myofibrillar myopathy' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0013470 generalized epilepsy with febrile seizures plus, type 7 'generalized epilepsy with febrile seizures plus, type 7' SubClassOf 'generalized epilepsy with febrile seizures plus' 'generalized epilepsy with febrile seizures plus, type 7' SubClassOf 'generalized epilepsy with febrile seizures plus' http://purl.obolibrary.org/obo/MONDO_0013498 schizophrenia 15 'schizophrenia 15' SubClassOf 'schizophrenia' 'schizophrenia 15' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0013504 spermatogenic failure 8 'spermatogenic failure 8' SubClassOf 'azoospermia' 'spermatogenic failure 8' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0013501 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 'frontotemporal dementia and/or amyotrophic lateral sclerosis 6' SubClassOf 'frontotemporal dementia with motor neuron disease' 'frontotemporal dementia and/or amyotrophic lateral sclerosis 6' SubClassOf 'frontotemporal dementia with motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0013526 progressive myoclonic epilepsy type 6 'progressive myoclonic epilepsy type 6' SubClassOf 'progressive myoclonus epilepsy' 'progressive myoclonic epilepsy type 6' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0013527 lissencephaly 4 'lissencephaly 4' SubClassOf 'microlissencephaly' 'lissencephaly 4' SubClassOf 'microlissencephaly' http://purl.obolibrary.org/obo/MONDO_0013521 dyskeratosis congenita, autosomal dominant 2 'dyskeratosis congenita, autosomal dominant 2' SubClassOf 'autosomal dominant disease' 'dyskeratosis congenita, autosomal dominant 2' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0013522 dyskeratosis congenita, autosomal dominant 3 'dyskeratosis congenita, autosomal dominant 3' SubClassOf 'autosomal dominant disease' 'dyskeratosis congenita, autosomal dominant 3' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0013523 Nestor-Guillermo progeria syndrome 'Nestor-Guillermo progeria syndrome' SubClassOf 'autosomal recessive disease' 'Nestor-Guillermo progeria syndrome' SubClassOf 'progeria' 'Nestor-Guillermo progeria syndrome' SubClassOf 'autosomal recessive disease' 'Nestor-Guillermo progeria syndrome' SubClassOf 'progeria' http://purl.obolibrary.org/obo/MONDO_0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 'mitochondrial complex V (ATP synthase) deficiency nuclear type 3' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency nuclear type 3' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0013562 aspergillosis, susceptibility to 'aspergillosis, susceptibility to' SubClassOf 'predisposes towards' some 'aspergillosis' 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'aspergillosis') 'aspergillosis, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'aspergillosis') 'aspergillosis, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'aspergillosis' http://purl.obolibrary.org/obo/MONDO_0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' http://purl.obolibrary.org/obo/MONDO_0013568 sick sinus syndrome 3, susceptibility to 'sick sinus syndrome 3, susceptibility to' SubClassOf 'predisposes towards' some 'sick sinus syndrome' 'sick sinus syndrome 3, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'sick sinus syndrome' http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome 'DYRK1A-related intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'DYRK1A-related intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0013570 combined oxidative phosphorylation defect type 8 'combined oxidative phosphorylation defect type 8' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 8' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0013585 hydrolethalus syndrome 2 'hydrolethalus syndrome 2' SubClassOf 'hydrolethalus syndrome' 'hydrolethalus syndrome 2' SubClassOf 'hydrolethalus syndrome' http://purl.obolibrary.org/obo/MONDO_0013355 congenital dyserythropoietic anemia type 4 'congenital dyserythropoietic anemia type 4' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 4' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0013359 familial hyperaldosteronism type III 'familial hyperaldosteronism type III' SubClassOf 'familial hyperaldosteronism' 'familial hyperaldosteronism type III' SubClassOf 'familial hyperaldosteronism' http://purl.obolibrary.org/obo/MONDO_0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013369 hypertrophic cardiomyopathy 7 'hypertrophic cardiomyopathy 7' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 7' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013377 isolated microphthalmia 7 'isolated microphthalmia 7' SubClassOf 'isolated microphthalmia' 'isolated microphthalmia 7' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0013375 Klippel-Feil syndrome 3, autosomal dominant 'Klippel-Feil syndrome 3, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' 'Klippel-Feil syndrome 3, autosomal dominant' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0013392 autosomal recessive spinocerebellar ataxia 10 'autosomal recessive spinocerebellar ataxia 10' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 10' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0037398 pneumonia caused by pseudomonas aeruginosa infection 'pneumonia caused by pseudomonas aeruginosa infection' SubClassOf 'bacterial pneumonia' 'pneumonia caused by pseudomonas aeruginosa infection' SubClassOf 'bacterial pneumonia' http://purl.obolibrary.org/obo/GO_0019538 protein metabolic process 'protein metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0013408 FADD-related immunodeficiency 'FADD-related immunodeficiency' SubClassOf 'immunodeficiency disease' 'FADD-related immunodeficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0013409 age related macular degeneration 5 'age related macular degeneration 5' SubClassOf 'predisposes towards' some 'age-related macular degeneration' 'age related macular degeneration 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0013400 Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 'Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'adrenal gland disease' 'Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'adrenal gland disease' http://purl.obolibrary.org/obo/MONDO_0013410 46,XY sex reversal 6 '46,XY sex reversal 6' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 6' SubClassOf '46,XY complete gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0013412 hypertrophic cardiomyopathy 9 'hypertrophic cardiomyopathy 9' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 9' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013427 immunodeficiency 31B 'immunodeficiency 31B' SubClassOf 'autosomal recessive disease' 'immunodeficiency 31B' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0013426 aneurysm-osteoarthritis syndrome 'aneurysm-osteoarthritis syndrome' SubClassOf 'Loeys-Dietz syndrome' 'aneurysm-osteoarthritis syndrome' SubClassOf 'Loeys-Dietz syndrome' http://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://www.ebi.ac.uk/efo/EFO_0008613 pemphigus vegetans 'pemphigus vegetans' SubClassOf 'pemphigus vulgaris' 'pemphigus vegetans' SubClassOf 'pemphigus vulgaris' http://www.ebi.ac.uk/efo/EFO_0008601 pemphigus foliaceus 'pemphigus foliaceus' SubClassOf 'pemphigus' 'pemphigus foliaceus' SubClassOf 'pemphigus' http://www.ebi.ac.uk/efo/EFO_0008603 pemphigus erythematosus 'pemphigus erythematosus' SubClassOf 'pemphigus' 'pemphigus erythematosus' SubClassOf 'pemphigus' http://purl.obolibrary.org/obo/MONDO_0013254 microcephaly, seizures, and developmental delay 'microcephaly, seizures, and developmental delay' SubClassOf 'developmental and epileptic encephalopathy' 'microcephaly, seizures, and developmental delay' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0013268 frontonasal dysplasia with alopecia and genital anomaly 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'frontonasal dysplasia' 'frontonasal dysplasia with alopecia and genital anomaly' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013278 lymphatic malformation 3 'lymphatic malformation 3' SubClassOf 'lymphatic malformation' 'lymphatic malformation 3' SubClassOf 'lymphatic malformation' http://purl.obolibrary.org/obo/MONDO_0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'frontonasal dysplasia' 'frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013281 COG4-congenital disorder of glycosylation 'COG4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0013286 immunodeficiency, common variable, 6 'immunodeficiency, common variable, 6' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 6' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0013284 immunodeficiency, common variable, 4 'immunodeficiency, common variable, 4' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 4' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0003909 Bartholin gland adenomyoma 'Bartholin gland adenomyoma' SubClassOf 'benign epithelial neoplasm' 'Bartholin gland adenomyoma' SubClassOf 'Bartholin gland benign neoplasm' 'Bartholin gland adenomyoma' SubClassOf 'benign epithelial neoplasm' 'Bartholin gland adenomyoma' SubClassOf 'Bartholin gland benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003931 childhood optic tract astrocytoma 'childhood optic tract astrocytoma' SubClassOf 'optic tract astrocytoma' 'childhood optic tract astrocytoma' SubClassOf 'optic tract astrocytoma' http://purl.obolibrary.org/obo/MONDO_0003939 muscle tissue disorder 'muscle tissue disorder' SubClassOf 'musculoskeletal system disease' 'muscle tissue disorder' SubClassOf 'musculoskeletal system disease' http://purl.obolibrary.org/obo/MONDO_0003947 hyper-IgM syndrome 'hyper-IgM syndrome' SubClassOf 'hyperimmunoglobulin syndrome' 'hyper-IgM syndrome' SubClassOf 'hyperimmunoglobulin syndrome' http://purl.obolibrary.org/obo/MONDO_0003953 pediatric CNS choriocarcinoma 'pediatric CNS choriocarcinoma' SubClassOf 'choriocarcinoma of the central nervous system' 'pediatric CNS choriocarcinoma' SubClassOf 'choriocarcinoma of the central nervous system' http://purl.obolibrary.org/obo/MONDO_0003954 angiokeratoma of Fordyce 'angiokeratoma of Fordyce' SubClassOf 'angiokeratoma' 'angiokeratoma of Fordyce' SubClassOf 'angiokeratoma' http://purl.obolibrary.org/obo/MONDO_0013306 combined oxidative phosphorylation defect type 7 'combined oxidative phosphorylation defect type 7' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 7' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0003997 colon Kaposi sarcoma 'colon Kaposi sarcoma' SubClassOf 'colorectal Kaposi sarcoma' 'colon Kaposi sarcoma' SubClassOf 'colorectal Kaposi sarcoma' http://purl.obolibrary.org/obo/MONDO_0013311 ectodermal dysplasia-syndactyly syndrome 'ectodermal dysplasia-syndactyly syndrome' SubClassOf 'disease has major feature' some 'Syndactyly' 'ectodermal dysplasia-syndactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Syndactyly' 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 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0013327 primary hyperoxaluria type 3 'primary hyperoxaluria type 3' SubClassOf 'primary hyperoxaluria' 'primary hyperoxaluria type 3' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0013325 COG5-congenital disorder of glycosylation 'COG5-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'COG5-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0013349 ALG11-congenital disorder of glycosylation 'ALG11-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG11-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0013340 Parkinson disease 5, autosomal dominant, susceptibility to 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf 'predisposes towards' some 'Parkinson disease' 'Parkinson disease 5, autosomal dominant, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0027766 generalized lipodystrophy 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and ('disease has major feature' some 'Generalized lipodystrophy') 'generalized lipodystrophy' SubClassOf 'disease has major feature' some 'Generalized lipodystrophy' 'generalized lipodystrophy' EquivalentTo 'lipodystrophy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Generalized lipodystrophy') 'generalized lipodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Generalized lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0003796 rectum Kaposi sarcoma 'rectum Kaposi sarcoma' SubClassOf 'colorectal Kaposi sarcoma' 'rectum Kaposi sarcoma' SubClassOf 'colorectal Kaposi sarcoma' http://purl.obolibrary.org/obo/MONDO_0013110 neurodegenerative syndrome due to cerebral folate transport deficiency 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disorder of folate metabolism and transport' 'neurodegenerative syndrome due to cerebral folate transport deficiency' SubClassOf 'disorder of folate metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0013125 CLAPO syndrome 'CLAPO syndrome' SubClassOf 'overgrowth syndrome' 'CLAPO syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0013139 neutropenia, severe congenital, 2, autosomal dominant 'neutropenia, severe congenital, 2, autosomal dominant' SubClassOf 'autosomal dominant severe congenital neutropenia' 'neutropenia, severe congenital, 2, autosomal dominant' SubClassOf 'autosomal dominant severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0013137 choroidal dystrophy, central areolar 2 'choroidal dystrophy, central areolar 2' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040055 'choroidal dystrophy, central areolar 2' SubClassOf 'neurovascular disorder' http://purl.obolibrary.org/obo/MONDO_0013130 isolated microphthalmia 4 'isolated microphthalmia 4' SubClassOf 'isolated microphthalmia' 'isolated microphthalmia 4' SubClassOf 'isolated microphthalmia' http://purl.obolibrary.org/obo/MONDO_0027772 lung colloid adenocarcinoma 'lung colloid adenocarcinoma' SubClassOf 'mucinous carcinoma' 'lung colloid adenocarcinoma' SubClassOf 'mucinous carcinoma' http://purl.obolibrary.org/obo/MONDO_0013155 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0013156 muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0013159 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0013166 GABA aminotransaminase deficiency 'GABA aminotransaminase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' 'GABA aminotransaminase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0013160 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0013164 beta-ureidopropionase deficiency 'beta-ureidopropionase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' 'beta-ureidopropionase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0013173 intellectual disability, autosomal recessive 13 'intellectual disability, autosomal recessive 13' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 13' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013197 hypertrophic cardiomyopathy 14 'hypertrophic cardiomyopathy 14' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 14' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0013195 hypertrophic cardiomyopathy 13 'hypertrophic cardiomyopathy 13' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 13' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0003825 kidney oncocytoma 'kidney oncocytoma' SubClassOf 'benign epithelial neoplasm' 'kidney oncocytoma' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0003846 viral esophagitis 'viral esophagitis' SubClassOf 'viral disease' 'viral esophagitis' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'hypermanganesemia with dystonia' 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'hypermanganesemia with dystonia' http://purl.obolibrary.org/obo/MONDO_0013200 hypertrophic cardiomyopathy 15 'hypertrophic cardiomyopathy 15' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 15' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0003890 infiltrating bladder urothelial carcinoma 'infiltrating bladder urothelial carcinoma' SubClassOf 'infiltrating urothelial carcinoma' 'infiltrating bladder urothelial carcinoma' SubClassOf 'infiltrating urothelial carcinoma' http://purl.obolibrary.org/obo/MONDO_0013223 autosomal recessive spondylometaphyseal dysplasia, Megarbane type 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'spondylometaphyseal dysplasia' 'autosomal recessive spondylometaphyseal dysplasia, Megarbane type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0013222 Miyoshi muscular dystrophy 3 'Miyoshi muscular dystrophy 3' SubClassOf 'Miyoshi myopathy' 'Miyoshi muscular dystrophy 3' SubClassOf 'Miyoshi myopathy' http://purl.obolibrary.org/obo/MONDO_0008519 multiple synostoses syndrome 1 'multiple synostoses syndrome 1' SubClassOf 'multiple synostoses syndrome' 'multiple synostoses syndrome 1' SubClassOf 'multiple synostoses syndrome' http://purl.obolibrary.org/obo/MONDO_0008553 platelet-type bleeding disorder 17 'platelet-type bleeding disorder 17' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 17' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0008570 thyrotoxic periodic paralysis, susceptibility to, 1 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'predisposes towards' some 'thyrotoxic periodic paralysis' 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'thyrotoxic periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 'myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies' SubClassOf 'congenital myopathy' 'myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0008592 tricho-dento-osseous syndrome 'tricho-dento-osseous syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'tricho-dento-osseous syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0033545 mitochondrial DNA depletion syndrome 19 'mitochondrial DNA depletion syndrome 19' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 19' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0033537 combined oxidative phosphorylation deficiency 47 'combined oxidative phosphorylation deficiency 47' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 47' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0008597 trichorhinophalangeal syndrome, type III 'trichorhinophalangeal syndrome, type III' SubClassOf 'autosomal dominant disease' 'trichorhinophalangeal syndrome, type III' SubClassOf 'trichorhinophalangeal syndrome' 'trichorhinophalangeal syndrome, type III' SubClassOf 'autosomal dominant disease' 'trichorhinophalangeal syndrome, type III' SubClassOf 'trichorhinophalangeal syndrome' http://purl.obolibrary.org/obo/MONDO_0033534 combined oxidative phosphorylation deficiency 46 'combined oxidative phosphorylation deficiency 46' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 46' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033533 combined oxidative phosphorylation deficiency 45 'combined oxidative phosphorylation deficiency 45' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 45' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033566 combined oxidative phosphorylation deficiency 48 'combined oxidative phosphorylation deficiency 48' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 48' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033563 retinitis pigmentosa 90 'retinitis pigmentosa 90' SubClassOf 'retinitis pigmentosa' 'retinitis pigmentosa 90' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0033556 muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 'muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://www.ebi.ac.uk/efo/EFO_0002917 ovarian serous adenocarcinoma 'ovarian serous adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' 'ovarian serous adenocarcinoma' SubClassOf 'ovarian adenocarcinoma' http://www.ebi.ac.uk/efo/EFO_0002945 familial cardiomyopathy 'familial cardiomyopathy' SubClassOf 'cardiomyopathy' 'familial cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008407 neurogenic scapuloperoneal syndrome, Kaeser type 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'hereditary motor neuron disease' 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0008404 scalp-ear-nipple syndrome 'scalp-ear-nipple syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'scalp-ear-nipple syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008419 scoliosis, isolated, susceptibility to, 1 'scoliosis, isolated, susceptibility to, 1' SubClassOf 'predisposes towards' some 'idiopathic scoliosis' 'scoliosis, isolated, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'idiopathic scoliosis' http://purl.obolibrary.org/obo/MONDO_0008411 ulnar-mammary syndrome 'ulnar-mammary syndrome' SubClassOf 'syndromic disease' 'ulnar-mammary syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008428 septooptic dysplasia 'septooptic dysplasia' SubClassOf 'syndromic disease' 'septooptic dysplasia' SubClassOf 'syndromic disease' 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' 'autosomal dominant sideroblastic anemia' SubClassOf 'autosomal dominant disease' 'autosomal dominant sideroblastic anemia' SubClassOf 'inherited sideroblastic anemia' http://purl.obolibrary.org/obo/MONDO_0008453 adult-onset proximal spinal muscular atrophy, autosomal dominant 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'spinal muscular atrophy' 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'hereditary motor neuron disease' 'adult-onset proximal spinal muscular atrophy, autosomal dominant' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0008451 neuronopathy, distal hereditary motor, autosomal dominant 1 'neuronopathy, distal hereditary motor, autosomal dominant 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'neuronopathy, distal hereditary motor, autosomal dominant 1' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0008471 spondyloepiphyseal dysplasia congenita 'spondyloepiphyseal dysplasia congenita' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia congenita' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008479 spondylometaphyseal dysplasia, 'corner fracture' type 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'type 2 collagenopathy' 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'type 2 collagenopathy' 'spondylometaphyseal dysplasia, 'corner fracture' type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008478 spondylometaphyseal dysplasia, Schmidt type 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Schmidt type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008477 spondylometaphyseal dysplasia, Kozlowski type 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Kozlowski type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0008476 spondyloepimetaphyseal dysplasia, Strudwick type 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondyloepimetaphyseal dysplasia' 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' 'spondyloepiphyseal dysplasia tarda, autosomal dominant' SubClassOf 'spondyloepiphyseal dysplasia tarda' 'spondyloepiphyseal dysplasia tarda, autosomal dominant' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008485 sebocystomatosis 'sebocystomatosis' SubClassOf 'sebaceous gland disease' 'sebocystomatosis' SubClassOf 'sebaceous gland disease' http://purl.obolibrary.org/obo/MONDO_0008493 overhydrated hereditary stomatocytosis 'overhydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' 'overhydrated hereditary stomatocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0008494 cryohydrocytosis 'cryohydrocytosis' SubClassOf 'hereditary stomatocytosis' 'cryohydrocytosis' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0033482 spinocerebellar ataxia 47 'spinocerebellar ataxia 47' SubClassOf 'autosomal dominant cerebellar ataxia' 'spinocerebellar ataxia 47' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/GO_0046655 folic acid metabolic process 'folic acid metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0008306 ABri amyloidosis 'ABri amyloidosis' SubClassOf 'ITM2B amyloidosis' 'ABri amyloidosis' SubClassOf 'ITM2B amyloidosis' http://purl.obolibrary.org/obo/MONDO_0008305 Currarino triad 'Currarino triad' SubClassOf 'syndromic disease' 'Currarino triad' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008301 Guttmacher syndrome 'Guttmacher syndrome' SubClassOf 'syndromic disease' 'Guttmacher syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008300 Prader-Willi syndrome 'Prader-Willi syndrome' SubClassOf 'syndromic disease' 'Prader-Willi syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008318 Proteus syndrome 'Proteus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus syndrome' SubClassOf 'overgrowth syndrome' 'Proteus syndrome' SubClassOf 'PTEN hamartoma tumor syndrome' 'Proteus syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0958184 epidermolytic hyperkeratosis 2 'epidermolytic hyperkeratosis 2' SubClassOf 'epidermolytic ichthyosis' 'epidermolytic hyperkeratosis 2' SubClassOf 'epidermolytic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0008310 Hutchinson-Gilford progeria syndrome 'Hutchinson-Gilford progeria syndrome' SubClassOf 'progeria' 'Hutchinson-Gilford progeria syndrome' SubClassOf 'progeria' http://purl.obolibrary.org/obo/MONDO_0008329 autosomal dominant pseudohypoaldosteronism type 1 'autosomal dominant pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' 'autosomal dominant pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' http://purl.obolibrary.org/obo/MONDO_0008338 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'autosomal dominant disease' 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'autosomal dominant disease' 'contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' http://purl.obolibrary.org/obo/MONDO_0008332 platelet-type von Willebrand disease 'platelet-type von Willebrand disease' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type von Willebrand disease' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0008368 autosomal dominant distal renal tubular acidosis 'autosomal dominant distal renal tubular acidosis' SubClassOf 'distal renal tubular acidosis' 'autosomal dominant distal renal tubular acidosis' SubClassOf 'distal renal tubular acidosis' http://purl.obolibrary.org/obo/MONDO_0008389 autosomal dominant Robinow syndrome 'autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' 'autosomal dominant Robinow syndrome' SubClassOf 'Robinow syndrome' http://purl.obolibrary.org/obo/MONDO_0008397 aplasia of lacrimal and salivary glands 'aplasia of lacrimal and salivary glands' SubClassOf 'syndromic disease' 'aplasia of lacrimal and salivary glands' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0033361 developmental and epileptic encephalopathy, 52 'developmental and epileptic encephalopathy, 52' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 52' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0033363 developmental and epileptic encephalopathy, 54 'developmental and epileptic encephalopathy, 54' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 54' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0033371 developmental and epileptic encephalopathy, 62 'developmental and epileptic encephalopathy, 62' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 62' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0033370 developmental and epileptic encephalopathy, 61 'developmental and epileptic encephalopathy, 61' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 61' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0033374 developmental and epileptic encephalopathy, 65 'developmental and epileptic encephalopathy, 65' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 65' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0008207 chondromalacia patellae 'chondromalacia patellae' SubClassOf 'chondromalacia' 'chondromalacia patellae' SubClassOf 'chondromalacia' http://purl.obolibrary.org/obo/MONDO_0008210 patterned macular dystrophy 1 'patterned macular dystrophy 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040055 http://purl.obolibrary.org/obo/MONDO_0958235 Ullrich congenital muscular dystrophy 1B 'Ullrich congenital muscular dystrophy 1B' SubClassOf 'Ullrich congenital muscular dystrophy' 'Ullrich congenital muscular dystrophy 1B' SubClassOf 'Ullrich congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0958236 Ullrich congenital muscular dystrophy 1C 'Ullrich congenital muscular dystrophy 1C' SubClassOf 'Ullrich congenital muscular dystrophy' 'Ullrich congenital muscular dystrophy 1C' SubClassOf 'Ullrich congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0958238 hyperemesis gravidarum, susceptibility to 'hyperemesis gravidarum, susceptibility to' SubClassOf 'predisposes towards' some 'hyperemesis gravidarum' 'hyperemesis gravidarum, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'hyperemesis gravidarum' http://purl.obolibrary.org/obo/MONDO_0008224 hyperkalemic periodic paralysis 'hyperkalemic periodic paralysis' SubClassOf 'familial periodic paralysis' 'hyperkalemic periodic paralysis' SubClassOf 'familial periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0008222 Andersen-Tawil syndrome 'Andersen-Tawil syndrome' SubClassOf 'familial periodic paralysis' 'Andersen-Tawil syndrome' SubClassOf 'familial long QT syndrome' 'Andersen-Tawil syndrome' SubClassOf 'familial periodic paralysis' 'Andersen-Tawil syndrome' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency 'prolidase deficiency' SubClassOf 'inborn disorder of peptide metabolism' 'prolidase deficiency' SubClassOf 'inborn disorder of peptide metabolism' http://purl.obolibrary.org/obo/MONDO_0008234 multiple endocrine neoplasia type 2A 'multiple endocrine neoplasia type 2A' SubClassOf 'multiple endocrine neoplasia type 2' 'multiple endocrine neoplasia type 2A' SubClassOf 'multiple endocrine neoplasia type 2' http://purl.obolibrary.org/obo/MONDO_0008250 isolated growth hormone deficiency type II 'isolated growth hormone deficiency type II' SubClassOf 'isolated congenital growth hormone deficiency' 'isolated growth hormone deficiency type II' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0033201 hearing loss, autosomal recessive 57 'hearing loss, autosomal recessive 57' SubClassOf 'hearing loss, autosomal recessive' 'hearing loss, autosomal recessive 57' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0008269 polydactyly of a biphalangeal thumb 'polydactyly of a biphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' 'polydactyly of a biphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0008267 orofaciodigital syndrome V 'orofaciodigital syndrome V' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome V' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0008265 polycystic liver disease 1 'polycystic liver disease 1' SubClassOf 'autosomal dominant polycystic liver disease' 'polycystic liver disease 1' SubClassOf 'autosomal dominant polycystic liver disease' http://purl.obolibrary.org/obo/MONDO_0008272 polysyndactyly 4 'polysyndactyly 4' SubClassOf 'preaxial polydactyly of fingers' 'polysyndactyly 4' SubClassOf 'preaxial polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0008271 polydactyly of an index finger 'polydactyly of an index finger' SubClassOf 'preaxial polydactyly of fingers' 'polydactyly of an index finger' SubClassOf 'preaxial polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0008270 polydactyly of a triphalangeal thumb 'polydactyly of a triphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' 'polydactyly of a triphalangeal thumb' SubClassOf 'preaxial polydactyly of fingers' http://purl.obolibrary.org/obo/MONDO_0008274 polyostotic fibrous dysplasia 'polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'polyostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://purl.obolibrary.org/obo/MONDO_0008283 Cronkhite-Canada syndrome 'Cronkhite-Canada syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Cronkhite-Canada syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008289 brain small vessel disease 1 with or without ocular anomalies 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf 'familial porencephaly' 'brain small vessel disease 1 with or without ocular anomalies' SubClassOf 'familial porencephaly' http://purl.obolibrary.org/obo/MONDO_0008295 sporadic porphyria cutanea tarda 'sporadic porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' 'sporadic porphyria cutanea tarda' SubClassOf 'acquired metabolic disease' 'sporadic porphyria cutanea tarda' SubClassOf 'porphyria cutanea tarda' 'sporadic porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030015 http://purl.obolibrary.org/obo/MONDO_0008123 autosomal dominant omodysplasia 'autosomal dominant omodysplasia' SubClassOf 'autosomal dominant disease' 'autosomal dominant omodysplasia' SubClassOf 'omodysplasia' 'autosomal dominant omodysplasia' SubClassOf 'autosomal dominant disease' 'autosomal dominant omodysplasia' SubClassOf 'omodysplasia' http://purl.obolibrary.org/obo/MONDO_0008137 orofaciodigital syndrome X 'orofaciodigital syndrome X' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome X' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0008145 Ollier disease 'Ollier disease' SubClassOf 'bone neoplasm' 'Ollier disease' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0008157 Buschke-Ollendorff syndrome 'Buschke-Ollendorff syndrome' SubClassOf 'syndromic disease' 'Buschke-Ollendorff syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008156 autosomal dominant osteopetrosis 2 'autosomal dominant osteopetrosis 2' SubClassOf 'autosomal dominant osteopetrosis' 'autosomal dominant osteopetrosis 2' SubClassOf 'autosomal dominant osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0008155 osteomesopyknosis 'osteomesopyknosis' SubClassOf 'osteopetrosis' 'osteomesopyknosis' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0008162 otitis media, susceptibility to 'otitis media, susceptibility to' SubClassOf 'predisposes towards' some 'Otitis media' 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Otitis media') 'otitis media, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Otitis media' 'otitis media, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Otitis media') http://purl.obolibrary.org/obo/MONDO_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 'chronic pancreatitis' 'hereditary chronic pancreatitis' SubClassOf 'chronic pancreatitis' http://purl.obolibrary.org/obo/MONDO_0008183 annular pancreas 'annular pancreas' SubClassOf 'pancreas disease' 'annular pancreas' SubClassOf 'pancreas disease' http://purl.obolibrary.org/obo/MONDO_0008016 trismus-pseudocamptodactyly syndrome 'trismus-pseudocamptodactyly syndrome' SubClassOf 'distal arthrogryposis' 'trismus-pseudocamptodactyly syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0023664 spermatogenic failure 54 'spermatogenic failure 54' SubClassOf 'azoospermia' 'spermatogenic failure 54' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0008026 autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures 'autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' 'autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0008031 facioscapulohumeral muscular dystrophy 2 'facioscapulohumeral muscular dystrophy 2' SubClassOf 'facioscapulohumeral muscular dystrophy' 'facioscapulohumeral muscular dystrophy 2' SubClassOf 'facioscapulohumeral muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0008048 autosomal dominant centronuclear myopathy 'autosomal dominant centronuclear myopathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant centronuclear myopathy' SubClassOf 'centronuclear myopathy' 'autosomal dominant centronuclear myopathy' SubClassOf 'autosomal dominant disease' 'autosomal dominant centronuclear myopathy' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0008046 autosomal dominant myoglobinuria 'autosomal dominant myoglobinuria' SubClassOf 'hereditary myoglobinuria' 'autosomal dominant myoglobinuria' SubClassOf 'hereditary skeletal muscle disorder' 'autosomal dominant myoglobinuria' SubClassOf 'inborn errors of metabolism' 'autosomal dominant myoglobinuria' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'spinal muscular atrophy' 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'hereditary motor neuron disease' 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0008050 MYH7-related skeletal myopathy 'MYH7-related skeletal myopathy' SubClassOf 'distal myopathy' 'MYH7-related skeletal myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0008059 Naegeli-Franceschetti-Jadassohn syndrome 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Naegeli-Franceschetti-Jadassohn syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008056 myotonic dystrophy type 1 'myotonic dystrophy type 1' SubClassOf 'myotonic dystrophy' 'myotonic dystrophy type 1' SubClassOf 'myotonic dystrophy' http://purl.obolibrary.org/obo/MONDO_0023670 Bardet-Biedl syndrome 20 'Bardet-Biedl syndrome 20' SubClassOf 'Bardet-Biedl syndrome' 'Bardet-Biedl syndrome 20' SubClassOf 'Bardet-Biedl syndrome' http://purl.obolibrary.org/obo/MONDO_0008061 nail-patella syndrome 'nail-patella syndrome' SubClassOf 'syndromic disease' 'nail-patella syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008060 nonsyndromic congenital nail disorder 1 'nonsyndromic congenital nail disorder 1' SubClassOf 'inherited isolated nail anomaly' 'nonsyndromic congenital nail disorder 1' SubClassOf 'inherited isolated nail anomaly' http://purl.obolibrary.org/obo/MONDO_0023692 maple syrup urine disease type 1B 'maple syrup urine disease type 1B' SubClassOf 'maple syrup urine disease' 'maple syrup urine disease type 1B' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0023691 maple syrup urine disease type 1A 'maple syrup urine disease type 1A' SubClassOf 'maple syrup urine disease' 'maple syrup urine disease type 1A' SubClassOf 'maple syrup urine disease' http://purl.obolibrary.org/obo/MONDO_0008082 multiple endocrine neoplasia type 2B 'multiple endocrine neoplasia type 2B' SubClassOf 'multiple endocrine neoplasia type 2' 'multiple endocrine neoplasia type 2B' SubClassOf 'multiple endocrine neoplasia type 2' http://purl.obolibrary.org/obo/GO_0046146 tetrahydrobiopterin metabolic process 'tetrahydrobiopterin metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'tetrahydrobiopterin metabolic process' SubClassOf 'metabolic process' http://purl.obolibrary.org/obo/MONDO_0018768 familial cold autoinflammatory syndrome 'familial cold autoinflammatory syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' 'familial cold autoinflammatory syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' http://purl.obolibrary.org/obo/MONDO_0018763 tubulinopathy-associated dysgyria 'tubulinopathy-associated dysgyria' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'tubulinopathy-associated dysgyria' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0004148 gallbladder papillary neoplasm with an associated invasive carcinoma 'gallbladder papillary neoplasm with an associated invasive carcinoma' SubClassOf 'Gallbladder Adenocarcinoma' 'gallbladder papillary neoplasm with an associated invasive carcinoma' SubClassOf 'Gallbladder Adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004196 rectal sarcomatoid carcinoma 'rectal sarcomatoid carcinoma' SubClassOf 'rectal carcinoma' 'rectal sarcomatoid carcinoma' SubClassOf 'rectal carcinoma' http://purl.obolibrary.org/obo/MONDO_0018612 congenital hypothyroidism 'congenital hypothyroidism' SubClassOf 'hypothyroidism' 'congenital hypothyroidism' SubClassOf 'hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis 'hereditary amyloidosis' SubClassOf 'amyloidosis' 'hereditary amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0004009 kidney pelvis sarcomatoid transitional cell carcinoma 'kidney pelvis sarcomatoid transitional cell carcinoma' SubClassOf 'transitional cell carcinoma of kidney' 'kidney pelvis sarcomatoid transitional cell carcinoma' SubClassOf 'transitional cell carcinoma of kidney' http://purl.obolibrary.org/obo/MONDO_0018662 autosomal recessive brachyolmia 'autosomal recessive brachyolmia' SubClassOf 'brachyolmia' 'autosomal recessive brachyolmia' SubClassOf 'brachyolmia' http://purl.obolibrary.org/obo/MONDO_0004030 ureter transitional cell carcinoma 'ureter transitional cell carcinoma' SubClassOf 'renal pelvis/ureter urothelial carcinoma' 'ureter transitional cell carcinoma' SubClassOf 'renal pelvis/ureter urothelial carcinoma' http://purl.obolibrary.org/obo/MONDO_0004040 urinary bladder inverted papilloma 'urinary bladder inverted papilloma' SubClassOf 'bladder urothelial papilloma' 'urinary bladder inverted papilloma' SubClassOf 'bladder urothelial papilloma' http://purl.obolibrary.org/obo/MONDO_0004071 childhood cerebral astrocytoma 'childhood cerebral astrocytoma' SubClassOf 'cerebral astrocytoma' 'childhood cerebral astrocytoma' SubClassOf 'cerebral astrocytoma' http://purl.obolibrary.org/obo/MONDO_0018515 squamous cell carcinoma of rectum 'squamous cell carcinoma of rectum' SubClassOf 'rectal carcinoma' 'squamous cell carcinoma of rectum' SubClassOf 'rectal carcinoma' http://purl.obolibrary.org/obo/MONDO_0018521 squamous cell carcinoma of pancreas 'squamous cell carcinoma of pancreas' SubClassOf 'pancreatic carcinoma' 'squamous cell carcinoma of pancreas' SubClassOf 'squamous cell carcinoma' 'squamous cell carcinoma of pancreas' SubClassOf 'pancreatic carcinoma' 'squamous cell carcinoma of pancreas' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0018531 carcinoma of liver and intrahepatic biliary tract 'carcinoma of liver and intrahepatic biliary tract' SubClassOf 'liver cancer' 'carcinoma of liver and intrahepatic biliary tract' SubClassOf 'liver cancer' http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy 'adrenoleukodystrophy' SubClassOf 'leukodystrophy' 'adrenoleukodystrophy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0018543 autosomal dominant hypocalcemia 'autosomal dominant hypocalcemia' SubClassOf 'autosomal dominant disease' 'autosomal dominant hypocalcemia' SubClassOf 'autosomal dominant disease' 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 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0018591 ITM2B amyloidosis 'ITM2B amyloidosis' SubClassOf 'disease has major feature' some 'dementia' 'ITM2B amyloidosis' SubClassOf 'hereditary amyloidosis' 'ITM2B amyloidosis' SubClassOf 'hereditary amyloidosis' 'ITM2B amyloidosis' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0018590 ABeta2M amyloidosis 'ABeta2M amyloidosis' SubClassOf 'amyloidosis' 'ABeta2M amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0018425 Huntington disease-like syndrome due to C9ORF72 expansions 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'disease has major feature' some 'dementia' 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018458 familial hypocalciuric hypercalcemia 'familial hypocalciuric hypercalcemia' SubClassOf 'inborn errors of metabolism' 'familial hypocalciuric hypercalcemia' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0018450 spinal muscular atrophy with respiratory distress type 2 'spinal muscular atrophy with respiratory distress type 2' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0018493 malignant hyperthermia of anesthesia 'malignant hyperthermia of anesthesia' SubClassOf 'disease has major feature' some 'Malignant hyperthermia' 'malignant hyperthermia of anesthesia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Malignant hyperthermia' http://purl.obolibrary.org/obo/MONDO_0008908 MGAT2-congenital disorder of glycosylation 'MGAT2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'MGAT2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0008907 PMM2-congenital disorder of glycosylation 'PMM2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'PMM2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Hypergonadotropic hypogonadism' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypergonadotropic hypogonadism' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008918 carnitine-acylcarnitine translocase deficiency 'carnitine-acylcarnitine translocase deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'carnitine-acylcarnitine translocase deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' http://purl.obolibrary.org/obo/MONDO_0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' 'autosomal recessive palmoplantar keratoderma and congenital alopecia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008922 Sengers syndrome 'Sengers syndrome' SubClassOf 'mitochondrial DNA depletion syndrome' 'Sengers syndrome' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0008958 Klippel-Feil syndrome 2, autosomal recessive 'Klippel-Feil syndrome 2, autosomal recessive' SubClassOf 'Klippel-Feil syndrome' 'Klippel-Feil syndrome 2, autosomal recessive' SubClassOf 'Klippel-Feil syndrome' http://purl.obolibrary.org/obo/MONDO_0008955 cerebrooculofacioskeletal syndrome 1 'cerebrooculofacioskeletal syndrome 1' SubClassOf 'COFS syndrome' 'cerebrooculofacioskeletal syndrome 1' SubClassOf 'COFS syndrome' http://purl.obolibrary.org/obo/MONDO_0008974 Greenberg dysplasia 'Greenberg dysplasia' SubClassOf 'chondrodysplasia punctata' 'Greenberg dysplasia' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0008972 rhizomelic chondrodysplasia punctata type 1 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 1' SubClassOf 'rhizomelic chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0033946 hereditary angioedema with C1Inh deficiency 'hereditary angioedema with C1Inh deficiency' SubClassOf 'hereditary angioedema' 'hereditary angioedema with C1Inh deficiency' SubClassOf 'hereditary angioedema' http://purl.obolibrary.org/obo/MONDO_0008988 citrullinemia type I 'citrullinemia type I' SubClassOf 'citrullinemia' 'citrullinemia type I' SubClassOf 'citrullinemia' http://purl.obolibrary.org/obo/MONDO_0018307 neurodegeneration with brain iron accumulation 'neurodegeneration with brain iron accumulation' SubClassOf 'disease has major feature' some 'dementia' 'neurodegeneration with brain iron accumulation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' http://www.ebi.ac.uk/efo/EFO_0002618 pancreatic carcinoma 'pancreatic carcinoma' SubClassOf 'malignant exocrine pancreas neoplasm' 'pancreatic carcinoma' SubClassOf 'malignant exocrine pancreas neoplasm' http://purl.obolibrary.org/obo/MONDO_0008998 Cockayne syndrome type 3 'Cockayne syndrome type 3' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 3' SubClassOf 'Cockayne syndrome' http://www.ebi.ac.uk/efo/EFO_0002626 thymus neoplasm 'thymus neoplasm' SubClassOf 'thymus gland disorder' 'thymus neoplasm' SubClassOf 'thymus gland disorder' http://purl.obolibrary.org/obo/MONDO_0018343 periodic paralysis with later-onset distal motor neuropathy 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'familial periodic paralysis' 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'familial periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0018363 focal facial dermal dysplasia 'focal facial dermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'focal facial dermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008812 AREDYLD syndrome 'AREDYLD syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'AREDYLD syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008810 familial apolipoprotein C-II deficiency 'familial apolipoprotein C-II deficiency' SubClassOf 'familial chylomicronemia syndrome' 'familial apolipoprotein C-II deficiency' SubClassOf 'familial chylomicronemia syndrome' http://purl.obolibrary.org/obo/MONDO_0008824 fetal akinesia deformation sequence 'fetal akinesia deformation sequence' SubClassOf 'syndromic disease' 'fetal akinesia deformation sequence' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008823 arthrogryposis multiplex congenita 2, neurogenic type 'arthrogryposis multiplex congenita 2, neurogenic type' SubClassOf 'arthrogryposis multiplex congenita' 'arthrogryposis multiplex congenita 2, neurogenic type' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria 'aspartylglucosaminuria' SubClassOf 'oligosaccharidosis' 'aspartylglucosaminuria' SubClassOf 'lysosomal storage disease with skeletal involvement' 'aspartylglucosaminuria' SubClassOf 'oligosaccharidosis' 'aspartylglucosaminuria' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0008849 atrophoderma vermiculata 'atrophoderma vermiculata' SubClassOf 'keratosis pilaris atrophicans' 'atrophoderma vermiculata' SubClassOf 'keratosis pilaris atrophicans' http://purl.obolibrary.org/obo/MONDO_0008858 Behr syndrome 'Behr syndrome' SubClassOf 'autosomal recessive disease' 'Behr syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0033821 fungal keratitis 'fungal keratitis' SubClassOf 'corneal infection' 'fungal keratitis' SubClassOf 'corneal infection' http://purl.obolibrary.org/obo/MONDO_0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency '3-methylcrotonyl-CoA carboxylase 2 deficiency' SubClassOf '3-methylcrotonyl-CoA carboxylase deficiency' '3-methylcrotonyl-CoA carboxylase 2 deficiency' SubClassOf '3-methylcrotonyl-CoA carboxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0008877 blue diaper syndrome 'blue diaper syndrome' SubClassOf 'inborn disorder of amino acid transport' 'blue diaper syndrome' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0008876 Bloom syndrome 'Bloom syndrome' SubClassOf 'syndromic disease' 'Bloom syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008885 Elsahy-Waters syndrome 'Elsahy-Waters syndrome' SubClassOf 'syndromic disease' 'Elsahy-Waters syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0033838 radiation-induced plexopathy 'radiation-induced plexopathy' SubClassOf 'radiation-induced disorder' 'radiation-induced plexopathy' SubClassOf 'radiation-induced disorder' http://www.ebi.ac.uk/efo/EFO_0002501 anaplastic oligodendroglioma 'anaplastic oligodendroglioma' SubClassOf 'anaplastic cancer' 'anaplastic oligodendroglioma' SubClassOf 'anaplastic cancer' http://purl.obolibrary.org/obo/MONDO_0008892 progressive familial intrahepatic cholestasis type 1 'progressive familial intrahepatic cholestasis type 1' SubClassOf 'progressive familial intrahepatic cholestasis' 'progressive familial intrahepatic cholestasis type 1' SubClassOf 'progressive familial intrahepatic cholestasis' http://www.ebi.ac.uk/efo/EFO_0002500 anaplastic oligoastrocytoma 'anaplastic oligoastrocytoma' SubClassOf 'Malignant Mixed Neoplasm' http://purl.obolibrary.org/obo/MONDO_0008891 riboflavin transporter deficiency 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'Sensorineural hearing impairment' 'riboflavin transporter deficiency' SubClassOf 'disease has major feature' some 'bulbospinal muscular atrophy' 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'bulbospinal muscular atrophy' 'riboflavin transporter deficiency' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Sensorineural hearing impairment' http://www.ebi.ac.uk/efo/EFO_0002509 progressive external ophthalmoplegia 'progressive external ophthalmoplegia' SubClassOf 'inborn mitochondrial myopathy' 'progressive external ophthalmoplegia' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0018213 hereditary sensory and autonomic neuropathy type 1 'hereditary sensory and autonomic neuropathy type 1' SubClassOf 'hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 1' SubClassOf 'hereditary sensory and autonomic neuropathy' http://www.ebi.ac.uk/efo/EFO_0002431 tumour of cranial and spinal nerves 'tumour of cranial and spinal nerves' SubClassOf 'peripheral nervous system disease' 'tumour of cranial and spinal nerves' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/MONDO_0018266 ataxia - telangiectasia variant 'ataxia - telangiectasia variant' SubClassOf 'disease shares features of' some 'ataxia telangiectasia' 'ataxia - telangiectasia variant' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'ataxia telangiectasia' http://purl.obolibrary.org/obo/MONDO_0018264 oculocutaneous albinism type 6 'oculocutaneous albinism type 6' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 6' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0018276 muscular dystrophy-dystroglycanopathy 'muscular dystrophy-dystroglycanopathy' SubClassOf 'congenital muscular dystrophy' 'muscular dystrophy-dystroglycanopathy' SubClassOf 'congenital muscular dystrophy' http://www.ebi.ac.uk/efo/EFO_0002499 anaplastic astrocytoma 'anaplastic astrocytoma' SubClassOf 'anaplastic cancer' 'anaplastic astrocytoma' SubClassOf 'anaplastic cancer' http://purl.obolibrary.org/obo/MONDO_0008706 Ackerman syndrome 'Ackerman syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Ackerman syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008703 acromesomelic dysplasia 2A 'acromesomelic dysplasia 2A' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 2A' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0008701 achondrogenesis type IA 'achondrogenesis type IA' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040009 http://purl.obolibrary.org/obo/MONDO_0008711 Goodman syndrome 'Goodman syndrome' SubClassOf 'disease shares features of' some 'Carpenter syndrome' 'Goodman syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Carpenter syndrome' 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 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'congenital adrenal hyperplasia' 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' 'Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis' SubClassOf 'Antley-Bixler syndrome' http://purl.obolibrary.org/obo/MONDO_0008738 aganglionosis, total intestinal 'aganglionosis, total intestinal' SubClassOf 'disease shares features of' some 'Hirschsprung disease' 'aganglionosis, total intestinal' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Hirschsprung disease' 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 'congenital adrenal hyperplasia' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'congenital adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0008747 oculocutaneous albinism type 3 'oculocutaneous albinism type 3' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 3' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0008746 oculocutaneous albinism type 2 'oculocutaneous albinism type 2' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 2' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0008742 autosomal dominant severe congenital neutropenia 'autosomal dominant severe congenital neutropenia' SubClassOf 'autosomal dominant disease' 'autosomal dominant severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' 'autosomal dominant severe congenital neutropenia' SubClassOf 'autosomal dominant disease' 'autosomal dominant severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0008756 alopecia - intellectual disability syndrome 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic disease' 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008753 alkaptonuria 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0008752 Alexander disease 'Alexander disease' SubClassOf 'leukodystrophy' 'Alexander disease' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome 'Alstrom syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'Alstrom syndrome' SubClassOf 'syndromic disease' 'Alstrom syndrome' SubClassOf 'syndromic disease' 'Alstrom syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008762 autosomal recessive Alport syndrome 'autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' 'autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive Alport syndrome' SubClassOf 'Alport syndrome' 'autosomal recessive Alport syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0008799 anophthalmia/microphthalmia-esophageal atresia syndrome 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'syndromic microphthalmia' 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0008795 aniridia-cerebellar ataxia-intellectual disability syndrome 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic disease' 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018150 Gaucher disease 'Gaucher disease' SubClassOf 'sphingolipidosis' 'Gaucher disease' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0018149 GM1 gangliosidosis 'GM1 gangliosidosis' SubClassOf 'gangliosidosis' 'GM1 gangliosidosis' SubClassOf 'gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0018168 primary non-essential cutis verticis gyrata 'primary non-essential cutis verticis gyrata' SubClassOf 'primary cutis verticis gyrata' 'primary non-essential cutis verticis gyrata' SubClassOf 'primary cutis verticis gyrata' http://purl.obolibrary.org/obo/MONDO_0018184 gastric linitis plastica 'gastric linitis plastica' SubClassOf 'diffuse gastric adenocarcinoma' 'gastric linitis plastica' SubClassOf 'diffuse gastric adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0043195 Rubinstein Taybi like syndrome 'Rubinstein Taybi like syndrome' SubClassOf 'disease shares features of' some 'Rubinstein-Taybi syndrome' 'Rubinstein Taybi like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Rubinstein-Taybi syndrome' http://purl.obolibrary.org/obo/MONDO_0008603 trigonocephaly 1 'trigonocephaly 1' SubClassOf 'isolated trigonocephaly' 'trigonocephaly 1' SubClassOf 'isolated trigonocephaly' http://purl.obolibrary.org/obo/MONDO_0008622 tricho-retino-dento-digital syndrome 'tricho-retino-dento-digital syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'tricho-retino-dento-digital syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0008637 bifid uvula 'bifid uvula' SubClassOf 'cleft palate' 'bifid uvula' SubClassOf 'cleft palate' http://purl.obolibrary.org/obo/MONDO_0008633 Muckle-Wells syndrome 'Muckle-Wells syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' 'Muckle-Wells syndrome' SubClassOf 'cryopyrin-associated periodic syndrome' http://purl.obolibrary.org/obo/MONDO_0008647 hypertrophic cardiomyopathy 1 'hypertrophic cardiomyopathy 1' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 1' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0008660 autosomal dominant hypophosphatemic rickets 'autosomal dominant hypophosphatemic rickets' SubClassOf 'autosomal dominant disease' 'autosomal dominant hypophosphatemic rickets' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0033622 spermatogenic failure 44 'spermatogenic failure 44' SubClassOf 'azoospermia' 'spermatogenic failure 44' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0033620 myofibrillar myopathy 10 'myofibrillar myopathy 10' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 10' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0033615 coenzyme q10 deficiency, primary, 9 'coenzyme q10 deficiency, primary, 9' SubClassOf 'coenzyme Q10 deficiency' 'coenzyme q10 deficiency, primary, 9' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0033614 spastic paraplegia 83, autosomal recessive 'spastic paraplegia 83, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' 'spastic paraplegia 83, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0008678 Williams syndrome 'Williams syndrome' SubClassOf 'syndromic disease' 'Williams syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008676 white sponge nevus 1 'white sponge nevus 1' SubClassOf 'hereditary mucosal leukokeratosis' 'white sponge nevus 1' SubClassOf 'hereditary mucosal leukokeratosis' http://purl.obolibrary.org/obo/MONDO_0008673 acrofacial dysostosis, Weyers type 'acrofacial dysostosis, Weyers type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Weyers type' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0008670 Waardenburg syndrome type 1 'Waardenburg syndrome type 1' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 1' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'dehydrated hereditary stomatocytosis' 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'dehydrated hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0008684 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'chromosome 4 short arm deletion' 'Wolf-Hirschhorn syndrome' SubClassOf 'chromosome 4 short arm deletion' http://purl.obolibrary.org/obo/MONDO_0008682 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'syndromic disease' 'Denys-Drash syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome 'WAGR syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' 'WAGR syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' http://purl.obolibrary.org/obo/MONDO_0033643 inflammatory bowel disease 30 'inflammatory bowel disease 30' SubClassOf 'inflammatory bowel disease' 'inflammatory bowel disease 30' SubClassOf 'inflammatory bowel disease' http://purl.obolibrary.org/obo/MONDO_0008693 ablepharon macrostomia syndrome 'ablepharon macrostomia syndrome' SubClassOf 'syndromic disease' 'ablepharon macrostomia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0033631 combined oxidative phosphorylation deficiency 51 'combined oxidative phosphorylation deficiency 51' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 51' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0033668 hearing loss, autosomal dominant 79 'hearing loss, autosomal dominant 79' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 79' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0033665 hearing loss, autosomal dominant 78 'hearing loss, autosomal dominant 78' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 78' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0018026 tetraploidy syndrome 'tetraploidy syndrome' SubClassOf 'polyploidy' 'tetraploidy syndrome' SubClassOf 'polyploidy' http://purl.obolibrary.org/obo/MONDO_0033657 leukodystrophy, hypomyelinating, 20 'leukodystrophy, hypomyelinating, 20' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 20' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0018037 hyper-IgE syndrome 'hyper-IgE syndrome' SubClassOf 'hyperimmunoglobulin syndrome' 'hyper-IgE syndrome' SubClassOf 'hyperimmunoglobulin syndrome' http://purl.obolibrary.org/obo/MONDO_0018045 Hoyeraal-Hreidarsson syndrome 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Hoyeraal-Hreidarsson syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0033673 spermatogenic failure 46 'spermatogenic failure 46' SubClassOf 'azoospermia' 'spermatogenic failure 46' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0033671 spermatogenic failure 45 'spermatogenic failure 45' SubClassOf 'azoospermia' 'spermatogenic failure 45' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0033670 hearing loss, autosomal recessive 116 'hearing loss, autosomal recessive 116' SubClassOf 'hearing loss, autosomal recessive' 'hearing loss, autosomal recessive 116' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0018067 triploidy 'triploidy' SubClassOf 'polyploidy' 'triploidy' SubClassOf 'polyploidy' http://purl.obolibrary.org/obo/MONDO_0018094 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'syndromic disease' 'Waardenburg syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018096 Weill-Marchesani syndrome 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' 'Weill-Marchesani syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014328 developmental and epileptic encephalopathy, 19 'developmental and epileptic encephalopathy, 19' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 19' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014339 autosomal recessive spinocerebellar ataxia 16 'autosomal recessive spinocerebellar ataxia 16' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 16' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014355 cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis 'cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis' SubClassOf 'erythrokeratoderma' http://purl.obolibrary.org/obo/MONDO_0014366 spermatogenic failure 14 'spermatogenic failure 14' SubClassOf 'azoospermia' 'spermatogenic failure 14' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0014365 spermatogenic failure 13 'spermatogenic failure 13' SubClassOf 'azoospermia' 'spermatogenic failure 13' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0014361 autism spectrum disorder due to AUTS2 deficiency 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'intellectual disability, autosomal dominant' 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0014388 familial median cleft of the upper and lower lips 'familial median cleft of the upper and lower lips' SubClassOf 'orofacial cleft' 'familial median cleft of the upper and lower lips' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0014380 colobomatous microphthalmia-rhizomelic dysplasia syndrome 'colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf 'syndromic microphthalmia' 'colobomatous microphthalmia-rhizomelic dysplasia syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0014386 platelet-type bleeding disorder 18 'platelet-type bleeding disorder 18' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 18' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0014397 combined oxidative phosphorylation defect type 20 'combined oxidative phosphorylation defect type 20' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 20' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0014418 myopathy, centronuclear, 5 'myopathy, centronuclear, 5' SubClassOf 'autosomal recessive centronuclear myopathy' 'myopathy, centronuclear, 5' SubClassOf 'autosomal recessive centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0014413 orofaciodigital syndrome type 14 'orofaciodigital syndrome type 14' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 14' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0014431 LIPE-related familial partial lipodystrophy 'LIPE-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'LIPE-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0004885 choroidal sclerosis 'choroidal sclerosis' SubClassOf 'optic choroid disorder' 'choroidal sclerosis' SubClassOf 'optic choroid disorder' http://purl.obolibrary.org/obo/MONDO_0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'hereditary spastic paraplegia' 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014201 developmental and epileptic encephalopathy, 18 'developmental and epileptic encephalopathy, 18' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 18' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0014232 craniosynostosis 5, susceptibility to 'craniosynostosis 5, susceptibility to' SubClassOf 'predisposes towards' some 'craniosynostosis' 'craniosynostosis 5, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0014247 familial episodic pain syndrome with predominantly lower limb involvement 'familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'familial episodic pain syndrome' 'familial episodic pain syndrome with predominantly lower limb involvement' SubClassOf 'familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0014246 episodic pain syndrome, familial, 2 'episodic pain syndrome, familial, 2' SubClassOf 'familial episodic pain syndrome' 'episodic pain syndrome, familial, 2' SubClassOf 'familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0014242 van Maldergem syndrome 2 'van Maldergem syndrome 2' SubClassOf 'van Maldergem syndrome' 'van Maldergem syndrome 2' SubClassOf 'van Maldergem syndrome' http://purl.obolibrary.org/obo/MONDO_0014241 leukemia, acute lymphoblastic, susceptibility to, 3 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf 'predisposes towards' some 'acute lymphoblastic leukemia' 'leukemia, acute lymphoblastic, susceptibility to, 3' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0014269 combined oxidative phosphorylation deficiency 19 'combined oxidative phosphorylation deficiency 19' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 19' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014268 combined immunodeficiency due to OX40 deficiency 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to OX40 deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 'growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' 'growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014260 immunodeficiency, common variable, 10 'immunodeficiency, common variable, 10' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 10' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014278 immunodeficiency 18 'immunodeficiency 18' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 18' SubClassOf 'familial severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014271 STT3B-congenital disorder of glycosylation 'STT3B-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'STT3B-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0014270 STT3A-congenital disorder of glycosylation 'STT3A-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'STT3A-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0014280 immunodeficiency 19 'immunodeficiency 19' SubClassOf 'familial severe combined immunodeficiency' 'immunodeficiency 19' SubClassOf 'familial severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0004943 orbit sarcoma 'orbit sarcoma' SubClassOf 'sarcoma' 'orbit sarcoma' SubClassOf 'sarcoma' http://purl.obolibrary.org/obo/MONDO_0004951 susceptibility to HIV infection 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'HIV infection') 'susceptibility to HIV infection' SubClassOf 'predisposes towards' some 'HIV infection' 'susceptibility to HIV infection' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'HIV infection' 'susceptibility to HIV infection' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'HIV infection') http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis 'amyotrophic lateral sclerosis' SubClassOf 'motor neuron disease' 'amyotrophic lateral sclerosis' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0014300 proximal myopathy with extrapyramidal signs 'proximal myopathy with extrapyramidal signs' SubClassOf 'myopathy' 'proximal myopathy with extrapyramidal signs' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0014313 autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'inborn error of immunity' 'autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0004784 allergic asthma 'allergic asthma' SubClassOf 'allergic respiratory disease' 'allergic asthma' SubClassOf 'asthma' 'allergic asthma' SubClassOf 'allergic respiratory disease' 'allergic asthma' SubClassOf 'asthma' http://purl.obolibrary.org/obo/MONDO_0014100 dilated cardiomyopathy 1KK 'dilated cardiomyopathy 1KK' SubClassOf 'familial restrictive cardiomyopathy' 'dilated cardiomyopathy 1KK' SubClassOf 'familial dilated cardiomyopathy' 'dilated cardiomyopathy 1KK' SubClassOf 'familial hypertrophic cardiomyopathy' 'dilated cardiomyopathy 1KK' SubClassOf 'familial restrictive cardiomyopathy' 'dilated cardiomyopathy 1KK' SubClassOf 'familial hypertrophic cardiomyopathy' 'dilated cardiomyopathy 1KK' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0004790 fatty liver disease 'fatty liver disease' SubClassOf 'liver disease' 'fatty liver disease' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0014125 symphalangism, proximal, 1B 'symphalangism, proximal, 1B' SubClassOf 'proximal symphalangism' 'symphalangism, proximal, 1B' SubClassOf 'proximal symphalangism' http://purl.obolibrary.org/obo/MONDO_0014128 TCF12-related craniosynostosis 'TCF12-related craniosynostosis' SubClassOf 'syndromic craniosynostosis' 'TCF12-related craniosynostosis' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0014121 autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' 'autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures' SubClassOf 'autosomal dominant childhood-onset proximal spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0014137 precocious puberty, central, 2 'precocious puberty, central, 2' SubClassOf 'Central precocious puberty' 'precocious puberty, central, 2' SubClassOf 'Central precocious puberty' http://purl.obolibrary.org/obo/MONDO_0014132 multiple mitochondrial dysfunctions syndrome 3 'multiple mitochondrial dysfunctions syndrome 3' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 3' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0014141 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' 'muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14' SubClassOf 'muscular dystrophy-dystroglycanopathy, type B' http://purl.obolibrary.org/obo/MONDO_0014159 autosomal recessive spinocerebellar ataxia 14 'autosomal recessive spinocerebellar ataxia 14' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 14' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014162 infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 'infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' 'infantile hypertrophic cardiomyopathy due to MRPL44 deficiency' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' http://purl.obolibrary.org/obo/MONDO_0014180 epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 'epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0014175 mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive 'mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014190 combined oxidative phosphorylation defect type 17 'combined oxidative phosphorylation defect type 17' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 17' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014189 age related macular degeneration 13 'age related macular degeneration 13' SubClassOf 'predisposes towards' some 'age-related macular degeneration' 'age related macular degeneration 13' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0014197 combined immunodeficiency due to MALT1 deficiency 'combined immunodeficiency due to MALT1 deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to MALT1 deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0004826 urethral calculus 'urethral calculus' SubClassOf 'urethral disease' 'urethral calculus' SubClassOf 'urethral disease' http://purl.obolibrary.org/obo/MONDO_0004828 lower urinary tract calculus 'lower urinary tract calculus' SubClassOf 'urolithiasis' 'lower urinary tract calculus' SubClassOf 'urolithiasis' http://purl.obolibrary.org/obo/MONDO_0004863 purulent endophthalmitis 'purulent endophthalmitis' SubClassOf 'endophthalmitis' 'purulent endophthalmitis' SubClassOf 'endophthalmitis' http://purl.obolibrary.org/obo/MONDO_0004650 malignant carotid body paraganglioma 'malignant carotid body paraganglioma' SubClassOf 'vascular cancer' 'malignant carotid body paraganglioma' SubClassOf 'vascular cancer' http://purl.obolibrary.org/obo/MONDO_0004667 sublingual gland cancer 'sublingual gland cancer' SubClassOf 'major salivary gland cancer' 'sublingual gland cancer' SubClassOf 'major salivary gland cancer' http://purl.obolibrary.org/obo/MONDO_0004686 lattice corneal dystrophy 'lattice corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'lattice corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0014006 Schuurs-Hoeijmakers syndrome 'Schuurs-Hoeijmakers syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Schuurs-Hoeijmakers syndrome' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0004699 gastrointestinal lymphoma 'gastrointestinal lymphoma' SubClassOf 'lymphoma' 'gastrointestinal lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0004695 liver lymphoma 'liver lymphoma' SubClassOf 'liver cancer' 'liver lymphoma' SubClassOf 'liver cancer' http://purl.obolibrary.org/obo/MONDO_0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive 'epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0014028 distal arthrogryposis type 5D 'distal arthrogryposis type 5D' SubClassOf 'distal arthrogryposis' 'distal arthrogryposis type 5D' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'congenital disorder of glycosylation type I' 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0014021 familial episodic pain syndrome with predominantly upper body involvement 'familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'familial episodic pain syndrome' 'familial episodic pain syndrome with predominantly upper body involvement' SubClassOf 'familial episodic pain syndrome' http://purl.obolibrary.org/obo/MONDO_0014038 colorectal cancer, susceptibility to, 12 'colorectal cancer, susceptibility to, 12' SubClassOf 'predisposes towards' some 'colorectal cancer' 'colorectal cancer, susceptibility to, 12' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'colorectal cancer' http://purl.obolibrary.org/obo/MONDO_0014037 spermatogenic failure 11 'spermatogenic failure 11' SubClassOf 'azoospermia' 'spermatogenic failure 11' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0014039 mitochondrial DNA depletion syndrome 11 'mitochondrial DNA depletion syndrome 11' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 11' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0014048 Cowden syndrome 6 'Cowden syndrome 6' SubClassOf 'Cowden disease' 'Cowden syndrome 6' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0014047 Cowden syndrome 5 'Cowden syndrome 5' SubClassOf 'Cowden disease' 'Cowden syndrome 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040002 'Cowden syndrome 5' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0014043 microcephalic primordial dwarfism due to ZNF335 deficiency 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'autosomal recessive primary microcephaly' 'microcephalic primordial dwarfism due to ZNF335 deficiency' SubClassOf 'autosomal recessive primary microcephaly' 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 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0014072 D,L-2-hydroxyglutaric aciduria 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'D,L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://purl.obolibrary.org/obo/MONDO_0014078 platelet-type bleeding disorder 15 'platelet-type bleeding disorder 15' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 15' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0014076 dyskeratosis congenita, autosomal recessive 5 'dyskeratosis congenita, autosomal recessive 5' SubClassOf 'autosomal recessive disease' 'dyskeratosis congenita, autosomal recessive 5' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/GO_1903510 mucopolysaccharide metabolic process 'mucopolysaccharide metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0014098 CIDEC-related familial partial lipodystrophy 'CIDEC-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' 'CIDEC-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0004700 parotid gland cancer 'parotid gland cancer' SubClassOf 'major salivary gland cancer' 'parotid gland cancer' SubClassOf 'major salivary gland cancer' http://purl.obolibrary.org/obo/MONDO_0004737 homocystinuria 'homocystinuria' SubClassOf 'inborn disorder of amino acid metabolism' 'homocystinuria' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0004757 chronic ethmoidal sinusitis 'chronic ethmoidal sinusitis' SubClassOf 'chronic rhinosinusitis' 'chronic ethmoidal sinusitis' SubClassOf 'chronic rhinosinusitis' http://www.ebi.ac.uk/efo/EFO_0003085 dedifferentiated liposarcoma 'dedifferentiated liposarcoma' SubClassOf 'liposarcoma' 'dedifferentiated liposarcoma' SubClassOf 'liposarcoma' http://purl.obolibrary.org/obo/MONDO_0004528 lymph node palisaded myofibroblastoma 'lymph node palisaded myofibroblastoma' SubClassOf 'myofibroblastoma' 'lymph node palisaded myofibroblastoma' SubClassOf 'myofibroblastoma' 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' SubClassOf 'aortic disease' 'aortic malignant tumor' SubClassOf 'great vessel cancer' http://www.ebi.ac.uk/efo/EFO_0003094 ganglioglioma 'ganglioglioma' SubClassOf 'mixed neuronal-glial tumor' 'ganglioglioma' SubClassOf 'mixed neuronal-glial tumor' http://www.ebi.ac.uk/efo/EFO_0003096 Pick disease 'Pick disease' SubClassOf 'frontotemporal dementia' 'Pick disease' SubClassOf 'frontotemporal dementia' http://purl.obolibrary.org/obo/MONDO_0004554 childhood kidney angiomyolipoma 'childhood kidney angiomyolipoma' SubClassOf 'childhood kidney neoplasm' 'childhood kidney angiomyolipoma' SubClassOf 'childhood kidney neoplasm' http://purl.obolibrary.org/obo/MONDO_0004587 hereditary night blindness 'hereditary night blindness' SubClassOf 'night blindness' 'hereditary night blindness' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0004582 rheumatic myocarditis 'rheumatic myocarditis' SubClassOf 'myocarditis' 'rheumatic myocarditis' SubClassOf 'myocarditis' http://purl.obolibrary.org/obo/MONDO_0004598 acute cor pulmonale 'acute cor pulmonale' SubClassOf 'cor pulmonale' 'acute cor pulmonale' SubClassOf 'cor pulmonale' http://www.ebi.ac.uk/efo/EFO_0003025 acute megakaryoblastic leukaemia 'acute megakaryoblastic leukaemia' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute megakaryoblastic leukaemia' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0003027 acute myeloblastic leukemia without maturation 'acute myeloblastic leukemia without maturation' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute myeloblastic leukemia without maturation' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0003026 minimally differentiated acute myeloblastic leukemia 'minimally differentiated acute myeloblastic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' 'minimally differentiated acute myeloblastic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0003029 acute basophilic leukemia 'acute basophilic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute basophilic leukemia' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0003028 acute myeloblastic leukemia with maturation 'acute myeloblastic leukemia with maturation' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute myeloblastic leukemia with maturation' SubClassOf 'acute myeloid leukemia by FAB classification' http://www.ebi.ac.uk/efo/EFO_0003017 transitional cell carcinoma of kidney 'transitional cell carcinoma of kidney' SubClassOf 'renal pelvis/ureter urothelial carcinoma' 'transitional cell carcinoma of kidney' SubClassOf 'renal pelvis/ureter urothelial carcinoma' http://www.ebi.ac.uk/efo/EFO_0003032 anaplastic large cell lymphoma 'anaplastic large cell lymphoma' SubClassOf 'mature T-cell and NK-cell non-Hodgkin lymphoma' 'anaplastic large cell lymphoma' SubClassOf 'mature T-cell and NK-cell non-Hodgkin lymphoma' http://www.ebi.ac.uk/efo/EFO_0003033 bacteriemia 'bacteriemia' SubClassOf 'bacterial disease' 'bacteriemia' SubClassOf 'bacterial disease' 'bacteriemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040015 http://www.ebi.ac.uk/efo/EFO_0003063 polymyositis 'polymyositis' SubClassOf 'acquired idiopathic inflammatory myopathy' 'polymyositis' SubClassOf 'acquired idiopathic inflammatory myopathy' http://purl.obolibrary.org/obo/MONDO_0004636 lip carcinoma in situ 'lip carcinoma in situ' SubClassOf 'oral cavity carcinoma in situ' 'lip carcinoma in situ' SubClassOf 'oral cavity carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0004429 skin meningioma 'skin meningioma' SubClassOf 'meningioma' 'skin meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0004440 pineal region meningioma 'pineal region meningioma' SubClassOf 'meningioma' 'pineal region meningioma' SubClassOf 'meningioma' http://purl.obolibrary.org/obo/MONDO_0004450 carotid artery occlusion 'carotid artery occlusion' SubClassOf 'carotid artery disease' 'carotid artery occlusion' SubClassOf 'carotid artery disease' 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 'childhood central nervous system germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0004484 gallbladder melanoma 'gallbladder melanoma' SubClassOf 'digestive system melanoma' 'gallbladder melanoma' SubClassOf 'digestive system melanoma' http://purl.obolibrary.org/obo/MONDO_0004491 uterine corpus choriocarcinoma 'uterine corpus choriocarcinoma' SubClassOf 'gestational choriocarcinoma' 'uterine corpus choriocarcinoma' SubClassOf 'gestational choriocarcinoma' http://purl.obolibrary.org/obo/MONDO_0004517 ureter tuberculosis 'ureter tuberculosis' SubClassOf 'ureteral disorder' 'ureter tuberculosis' SubClassOf 'ureteral disorder' http://purl.obolibrary.org/obo/MONDO_0004519 synovial angioma 'synovial angioma' SubClassOf 'hemangioma' 'synovial angioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine 'familial or sporadic hemiplegic migraine' SubClassOf 'migraine with aura' 'familial or sporadic hemiplegic migraine' SubClassOf 'migraine with aura' http://purl.obolibrary.org/obo/MONDO_0018938 mucopolysaccharidosis type 4 'mucopolysaccharidosis type 4' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 4' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0018937 mucopolysaccharidosis type 3 'mucopolysaccharidosis type 3' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 3' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0018931 mucolipidosis type III, alpha/beta 'mucolipidosis type III, alpha/beta' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucolipidosis type III, alpha/beta' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0018945 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'neuroacanthocytosis' 'McLeod neuroacanthocytosis syndrome' SubClassOf 'neuroacanthocytosis' http://purl.obolibrary.org/obo/MONDO_0018954 Loeys-Dietz syndrome 'Loeys-Dietz syndrome' SubClassOf 'syndromic disease' 'Loeys-Dietz syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0004328 maxillary sinus adenocarcinoma 'maxillary sinus adenocarcinoma' SubClassOf 'adenocarcinoma' 'maxillary sinus adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome 'Alport syndrome' SubClassOf 'syndromic disease' 'Alport syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018961 familial melanoma 'familial melanoma' SubClassOf 'melanoma' 'familial melanoma' SubClassOf 'melanoma' http://purl.obolibrary.org/obo/MONDO_0004336 rectal signet ring cell adenocarcinoma 'rectal signet ring cell adenocarcinoma' SubClassOf 'colorectal signet ring cell carcinoma' 'rectal signet ring cell adenocarcinoma' SubClassOf 'colorectal signet ring cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0004331 bladder urachal adenocarcinoma 'bladder urachal adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder urachal adenocarcinoma' SubClassOf 'urachus cancer' 'bladder urachal adenocarcinoma' SubClassOf 'Bladder Adenocarcinoma' 'bladder urachal adenocarcinoma' SubClassOf 'urachus cancer' http://purl.obolibrary.org/obo/MONDO_0018975 neurofibromatosis type 1 'neurofibromatosis type 1' SubClassOf 'rasopathy' 'neurofibromatosis type 1' SubClassOf 'neurofibromatosis' 'neurofibromatosis type 1' SubClassOf 'rasopathy' 'neurofibromatosis type 1' SubClassOf 'neurofibromatosis' 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_0018993 Charcot-Marie-Tooth disease type 2 'Charcot-Marie-Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0018995 Charcot-Marie-Tooth disease type 4 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type 4' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0004363 adult spinal cord glioblastoma 'adult spinal cord glioblastoma' SubClassOf 'spinal cord glioma' http://purl.obolibrary.org/obo/MONDO_0004374 adult extraskeletal osteosarcoma 'adult extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' 'adult extraskeletal osteosarcoma' SubClassOf 'extraosseous osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0004394 maxillary sinus squamous cell carcinoma 'maxillary sinus squamous cell carcinoma' SubClassOf 'paranasal sinus squamous cell carcinoma' 'maxillary sinus squamous cell carcinoma' SubClassOf 'paranasal sinus squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0018822 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0018838 lissencephaly spectrum disorders 'lissencephaly spectrum disorders' SubClassOf 'disease has major feature' some 'Lissencephaly' 'lissencephaly spectrum disorders' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Lissencephaly' http://purl.obolibrary.org/obo/MONDO_0004207 pulmonary artery leiomyosarcoma 'pulmonary artery leiomyosarcoma' SubClassOf 'arterial disorder' 'pulmonary artery leiomyosarcoma' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0018848 IgG4-related retroperitoneal fibrosis 'IgG4-related retroperitoneal fibrosis' SubClassOf 'IgG4-related disease' 'IgG4-related retroperitoneal fibrosis' SubClassOf 'IgG4-related disease' http://purl.obolibrary.org/obo/MONDO_0018843 embryonal carcinoma of the central nervous system 'embryonal carcinoma of the central nervous system' SubClassOf 'central nervous system nongerminomatous germ cell tumor' 'embryonal carcinoma of the central nervous system' SubClassOf 'central nervous system nongerminomatous germ cell tumor' http://purl.obolibrary.org/obo/MONDO_0004217 childhood brain germinoma 'childhood brain germinoma' SubClassOf 'childhood central nervous system germinoma' 'childhood brain germinoma' SubClassOf 'childhood central nervous system germinoma' 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_0018868 metachromatic leukodystrophy 'metachromatic leukodystrophy' SubClassOf 'sphingolipidosis' 'metachromatic leukodystrophy' SubClassOf 'leukodystrophy' 'metachromatic leukodystrophy' SubClassOf 'sphingolipidosis' 'metachromatic leukodystrophy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0018861 Zellweger-like syndrome without peroxisomal anomalies 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf 'disease shares features of' some 'Zellweger spectrum disorders' 'Zellweger-like syndrome without peroxisomal anomalies' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0018889 hyaline body myopathy 'hyaline body myopathy' SubClassOf 'congenital myopathy' 'hyaline body myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'hyaline body myopathy' SubClassOf 'congenital myopathy' 'hyaline body myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' http://purl.obolibrary.org/obo/MONDO_0018883 Berardinelli-Seip congenital lipodystrophy 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'hereditary lipodystrophy' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'hereditary lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0004257 childhood central nervous system mixed germ cell tumor 'childhood central nervous system mixed germ cell tumor' SubClassOf 'mixed germ cell tumor of central nervous system' 'childhood central nervous system mixed germ cell tumor' SubClassOf 'mixed germ cell tumor of central nervous system' http://purl.obolibrary.org/obo/MONDO_0018894 distal hereditary motor neuropathy 'distal hereditary motor neuropathy' SubClassOf 'hereditary motor neuron disease' 'distal hereditary motor neuropathy' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0004292 supraglottis verrucous carcinoma 'supraglottis verrucous carcinoma' SubClassOf 'larynx verrucous carcinoma' 'supraglottis verrucous carcinoma' SubClassOf 'larynx verrucous carcinoma' http://purl.obolibrary.org/obo/CL_1000271 lung ciliated cell 'lung ciliated cell' SubClassOf 'cell' 'lung ciliated cell' SubClassOf 'respiratory epithelial cell' http://www.ebi.ac.uk/efo/EFO_0003104 adrenocortical adenoma 'adrenocortical adenoma' SubClassOf 'adenoma' 'adrenocortical adenoma' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_0003103 urinary tract infection 'urinary tract infection' SubClassOf 'urinary system disease' 'urinary tract infection' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0018919 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf 'syndromic disease' 'McCune-Albright syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018911 maturity-onset diabetes of the young 'maturity-onset diabetes of the young' SubClassOf 'monogenic diabetes' 'maturity-onset diabetes of the young' SubClassOf 'monogenic diabetes' http://purl.obolibrary.org/obo/GO_0006749 glutathione metabolic process 'glutathione metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/GO_0006768 biotin metabolic process 'biotin metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/GO_0006772 thiamine metabolic process 'thiamine metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000625 benign male reproductive system neoplasm 'benign male reproductive system neoplasm' SubClassOf 'male reproductive system disease' 'benign male reproductive system neoplasm' SubClassOf 'male reproductive system disease' 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 'metabolic process' http://purl.obolibrary.org/obo/MONDO_0000631 bone benign neoplasm 'bone benign neoplasm' SubClassOf 'bone neoplasm' 'bone benign neoplasm' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0000634 thoracic benign neoplasm 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' 'thoracic benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000644 cervical benign neoplasm 'cervical benign neoplasm' SubClassOf 'uterine benign neoplasm' 'cervical benign neoplasm' SubClassOf 'uterine benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000648 nervous system benign neoplasm 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' 'nervous system benign neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm 'malignant soft tissue neoplasm' SubClassOf 'cancer' 'malignant soft tissue neoplasm' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0024622 thyroid gland adenocarcinoma 'thyroid gland adenocarcinoma' SubClassOf 'thyroid carcinoma' 'thyroid gland adenocarcinoma' SubClassOf 'adenocarcinoma' 'thyroid gland adenocarcinoma' SubClassOf 'thyroid carcinoma' 'thyroid gland adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0024653 skull neoplasm 'skull neoplasm' SubClassOf 'skull disorder' 'skull neoplasm' SubClassOf 'skull disorder' http://purl.obolibrary.org/obo/MONDO_0000688 inborn organic aciduria 'inborn organic aciduria' SubClassOf 'inborn disorder of amino acid metabolism' 'inborn organic aciduria' SubClassOf 'inborn disorder of amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0000685 visual agnosia 'visual agnosia' SubClassOf 'disease has major feature' some 'Visual agnosia' 'visual agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Visual agnosia' http://purl.obolibrary.org/obo/MONDO_0009018 central cloudy dystrophy of François 'central cloudy dystrophy of François' SubClassOf 'stromal corneal dystrophy' 'central cloudy dystrophy of François' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010006 Sandhoff disease 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' 'Sandhoff disease' SubClassOf 'GM2 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0009015 corneal dystrophy-perceptive deafness syndrome 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic disease' 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010008 sarcosinemia 'sarcosinemia' SubClassOf 'inborn disorder of serine family metabolism' 'sarcosinemia' SubClassOf 'inborn disorder of serine family metabolism' http://purl.obolibrary.org/obo/MONDO_0009020 macular corneal dystrophy 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy' 'macular corneal dystrophy' SubClassOf 'stromal corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome 'EEC syndrome' SubClassOf 'syndromic disease' 'EEC syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010017 sea-blue histiocyte syndrome 'sea-blue histiocyte syndrome' SubClassOf 'non-Langerhans cell histiocytosis' 'sea-blue histiocyte syndrome' SubClassOf 'non-Langerhans cell histiocytosis' http://purl.obolibrary.org/obo/MONDO_0009032 cranioectodermal dysplasia 'cranioectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'cranioectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010011 schizencephaly 'schizencephaly' SubClassOf 'encephaloclastic disorder' 'schizencephaly' SubClassOf 'encephaloclastic disorder' http://purl.obolibrary.org/obo/MONDO_0010015 anterior segment dysgenesis 7 'anterior segment dysgenesis 7' SubClassOf 'anterior segment dysgenesis' 'anterior segment dysgenesis 7' SubClassOf 'anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0024647 urolithiasis 'urolithiasis' SubClassOf 'urinary system disease' 'urolithiasis' SubClassOf 'urinary system disease' http://purl.obolibrary.org/obo/MONDO_0024673 skin lymphangioma 'skin lymphangioma' SubClassOf 'benign epithelial skin neoplasm' 'skin lymphangioma' SubClassOf 'benign neoplasm of skin' http://purl.obolibrary.org/obo/MONDO_0010028 sialuria 'sialuria' SubClassOf 'disorder of sialic acid metabolism' 'sialuria' SubClassOf 'disorder of sialic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009035 craniometaphyseal dysplasia, autosomal recessive 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'craniometaphyseal dysplasia' 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'autosomal recessive disease' 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'craniometaphyseal dysplasia' 'craniometaphyseal dysplasia, autosomal recessive' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010023 combined immunodeficiency due to ZAP70 deficiency 'combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to ZAP70 deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0010027 free sialic acid storage disease, infantile form 'free sialic acid storage disease, infantile form' SubClassOf 'lysosomal storage disease with skeletal involvement' 'free sialic acid storage disease, infantile form' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0010026 SHORT syndrome 'SHORT syndrome' SubClassOf 'syndromic disease' 'SHORT syndrome' SubClassOf 'hereditary lipodystrophy' 'SHORT syndrome' SubClassOf 'syndromic disease' 'SHORT syndrome' SubClassOf 'hereditary lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0024666 benign epithelial skin neoplasm 'benign epithelial skin neoplasm' SubClassOf 'benign epithelial neoplasm' 'benign epithelial skin neoplasm' SubClassOf 'benign epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome 'Fraser syndrome' SubClassOf 'syndromic disease' 'Fraser syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009058 cystathioninuria 'cystathioninuria' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'cystathioninuria' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria 'cystinuria' SubClassOf 'inborn disorder of amino acid transport' 'cystinuria' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0009075 Dandy-Walker malformation-postaxial polydactyly syndrome 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009074 facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009079 DOORS syndrome 'DOORS syndrome' SubClassOf 'syndromic disease' 'DOORS syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009084 conductive deafness-ptosis-skeletal anomalies syndrome 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf 'disease has major feature' some 'Conductive hearing impairment' 'conductive deafness-ptosis-skeletal anomalies syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Conductive hearing impairment' http://purl.obolibrary.org/obo/MONDO_0009082 high myopia-sensorineural deafness syndrome 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic disease' 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010068 spondyloepimetaphyseal dysplasia, sponastrime type 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009080 split hand-foot malformation 1 with sensorineural hearing loss 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'disease has major feature' some 'Ectrodactyly' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Ectrodactyly' http://purl.obolibrary.org/obo/MONDO_0010075 spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' 'spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' http://purl.obolibrary.org/obo/MONDO_0009095 dermatoosteolysis, Kirghizian type 'dermatoosteolysis, Kirghizian type' SubClassOf 'ectodermal dysplasia syndrome' 'dermatoosteolysis, Kirghizian type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010079 Canavan disease 'Canavan disease' SubClassOf 'leukodystrophy' 'Canavan disease' SubClassOf 'leukodystrophy' 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' 'spondyloepiphyseal dysplasia tarda, autosomal recessive' SubClassOf 'spondyloepiphyseal dysplasia tarda' 'spondyloepiphyseal dysplasia tarda, autosomal recessive' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010073 spondyloepiphyseal dysplasia tarda, Kohn type 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'spondyloepiphyseal dysplasia tarda' 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'spondyloepiphyseal dysplasia tarda' http://purl.obolibrary.org/obo/MONDO_0034022 Bethlem myopathy 2 'Bethlem myopathy 2' SubClassOf 'Ehlers-Danlos syndrome' 'Bethlem myopathy 2' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0024499 vascular bone neoplasm 'vascular bone neoplasm' SubClassOf 'bone neoplasm' 'vascular bone neoplasm' SubClassOf 'bone neoplasm' http://purl.obolibrary.org/obo/MONDO_0000503 lung adenocarcinoma in situ 'lung adenocarcinoma in situ' SubClassOf 'lung carcinoma in situ' 'lung adenocarcinoma in situ' SubClassOf 'lung carcinoma in situ' http://purl.obolibrary.org/obo/GO_0006665 sphingolipid metabolic process 'sphingolipid metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000514 bone squamous cell carcinoma 'bone squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' 'bone squamous cell carcinoma' SubClassOf 'squamous cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0000541 jejunal adenocarcinoma 'jejunal adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' 'jejunal adenocarcinoma' SubClassOf 'jejunal cancer' 'jejunal adenocarcinoma' SubClassOf 'small intestinal adenocarcinoma' 'jejunal adenocarcinoma' SubClassOf 'jejunal cancer' http://purl.obolibrary.org/obo/MONDO_0024512 spondyloarthropathy, susceptibility to 'spondyloarthropathy, susceptibility to' SubClassOf 'predisposes towards' some 'spondyloarthropathy' 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'spondyloarthropathy') 'spondyloarthropathy, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'spondyloarthropathy') 'spondyloarthropathy, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'spondyloarthropathy' http://purl.obolibrary.org/obo/MONDO_0024503 digestive system neuroendocrine neoplasm 'digestive system neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' 'digestive system neuroendocrine neoplasm' SubClassOf 'neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0024502 gallbladder neuroendocrine neoplasm 'gallbladder neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' 'gallbladder neuroendocrine neoplasm' SubClassOf 'digestive system neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_1002000 Takotsubo cardiomyopathy 'Takotsubo cardiomyopathy' SubClassOf 'cardiomyopathy' 'Takotsubo cardiomyopathy' SubClassOf 'cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0024537 Brown-Vialetto-van Laere syndrome 1 'Brown-Vialetto-van Laere syndrome 1' SubClassOf 'riboflavin transporter deficiency' 'Brown-Vialetto-van Laere syndrome 1' SubClassOf 'riboflavin transporter deficiency' http://www.ebi.ac.uk/efo/EFO_1002019 oligoarticular juvenile idiopathic arthritis 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'oligoarticular juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://purl.obolibrary.org/obo/MONDO_0000588 autoimmune disorder of gastrointestinal tract 'autoimmune disorder of gastrointestinal tract' SubClassOf 'digestive system disease' 'autoimmune disorder of gastrointestinal tract' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0024550 frontometaphyseal dysplasia 1 'frontometaphyseal dysplasia 1' SubClassOf 'frontometaphyseal dysplasia' 'frontometaphyseal dysplasia 1' SubClassOf 'frontometaphyseal dysplasia' http://www.ebi.ac.uk/efo/EFO_1002031 Hodgkins lymphoma, mixed cellularity 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'classic Hodgkin lymphoma' 'Hodgkins lymphoma, mixed cellularity' SubClassOf 'classic Hodgkin lymphoma' http://purl.obolibrary.org/obo/MONDO_0024545 Miyoshi muscular dystrophy 1 'Miyoshi muscular dystrophy 1' SubClassOf 'Miyoshi myopathy' 'Miyoshi muscular dystrophy 1' SubClassOf 'Miyoshi myopathy' http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy 'familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' 'familial hypertrophic cardiomyopathy' SubClassOf 'hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0024568 infantile liver failure syndrome 1 'infantile liver failure syndrome 1' SubClassOf 'infantile liver failure' 'infantile liver failure syndrome 1' SubClassOf 'infantile liver failure' http://purl.obolibrary.org/obo/MONDO_0024561 vitelliform macular dystrophy 3 'vitelliform macular dystrophy 3' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040055 http://www.ebi.ac.uk/efo/EFO_0007203 cervicofacial actinomycosis 'cervicofacial actinomycosis' SubClassOf 'actinomycosis' 'cervicofacial actinomycosis' SubClassOf 'actinomycosis' http://www.ebi.ac.uk/efo/EFO_0007206 choroid plexus cancer 'choroid plexus cancer' SubClassOf 'cerebral ventricle cancer' 'choroid plexus cancer' SubClassOf 'cerebral ventricle cancer' http://www.ebi.ac.uk/efo/EFO_0007220 congenital toxoplasmosis 'congenital toxoplasmosis' SubClassOf 'toxoplasmosis' 'congenital toxoplasmosis' SubClassOf 'toxoplasmosis' http://purl.obolibrary.org/obo/MONDO_0024387 benign ovarian sex cord-stromal tumor 'benign ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal benign neoplasm' 'benign ovarian sex cord-stromal tumor' SubClassOf 'sex cord-stromal benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0007218 congenital rubella 'congenital rubella' SubClassOf 'rubella' 'congenital rubella' SubClassOf 'rubella' http://www.ebi.ac.uk/efo/EFO_0007219 congenital syphilis 'congenital syphilis' SubClassOf 'syphilis' 'congenital syphilis' SubClassOf 'syphilis' http://www.ebi.ac.uk/efo/EFO_0007239 dirofilariasis 'dirofilariasis' SubClassOf 'filariasis' 'dirofilariasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007272 filarial elephantiasis 'filarial elephantiasis' SubClassOf 'filariasis' 'filarial elephantiasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007285 Gerstmann syndrome 'Gerstmann syndrome' SubClassOf 'nervous system disease' 'Gerstmann syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0007296 hantavirus pulmonary syndrome 'hantavirus pulmonary syndrome' SubClassOf 'lung disease' 'hantavirus pulmonary syndrome' SubClassOf 'lung disease' http://purl.obolibrary.org/obo/GO_0006601 creatine biosynthetic process 'creatine biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' http://purl.obolibrary.org/obo/GO_0006600 creatine metabolic process 'creatine metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/GO_0006541 glutamine metabolic process 'glutamine metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/GO_0006547 L-histidine metabolic process 'L-histidine metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/GO_0006558 L-phenylalanine metabolic process 'L-phenylalanine metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/GO_0006560 proline 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 'organonitrogen compound biosynthetic process' http://purl.obolibrary.org/obo/GO_0006568 tryptophan metabolic process 'tryptophan metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000424 inborn vitamin B12 deficiency 'inborn vitamin B12 deficiency' SubClassOf 'vitamin metabolic disorder' 'inborn vitamin B12 deficiency' SubClassOf 'vitamin B12 deficiency' http://purl.obolibrary.org/obo/GO_0006570 tyrosine metabolic process 'tyrosine metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0000430 mature T-cell and NK-cell non-Hodgkin lymphoma 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' 'mature T-cell and NK-cell non-Hodgkin lymphoma' SubClassOf 'T-cell non-Hodgkin lymphoma' http://purl.obolibrary.org/obo/GO_0006591 ornithine metabolic process 'ornithine metabolic process' SubClassOf 'organonitrogen compound metabolic process' 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_0024477 liver and intrahepatic bile duct neoplasm 'liver and intrahepatic bile duct neoplasm' SubClassOf 'liver disease' 'liver and intrahepatic bile duct neoplasm' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0024462 susceptibility to familial cutaneous melanoma 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'cutaneous melanoma') 'susceptibility to familial cutaneous melanoma' SubClassOf 'predisposes towards' some 'cutaneous melanoma' 'susceptibility to familial cutaneous melanoma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'cutaneous melanoma') 'susceptibility to familial cutaneous melanoma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'cutaneous melanoma' http://purl.obolibrary.org/obo/MONDO_0000286 Epstein-Barr virus hepatitis 'Epstein-Barr virus hepatitis' SubClassOf 'Epstein-Barr virus infection' 'Epstein-Barr virus hepatitis' SubClassOf 'Epstein-Barr virus infection' http://www.ebi.ac.uk/efo/EFO_0007126 Acanthamoeba keratitis 'Acanthamoeba keratitis' SubClassOf 'corneal infection' 'Acanthamoeba keratitis' SubClassOf 'corneal infection' http://purl.obolibrary.org/obo/MONDO_0024296 vascular neoplasm 'vascular neoplasm' SubClassOf 'cardiovascular neoplasm' 'vascular neoplasm' SubClassOf 'cardiovascular neoplasm' http://purl.obolibrary.org/obo/MONDO_0024286 benign blood vessel neoplasm 'benign blood vessel neoplasm' SubClassOf 'cardiovascular organ benign neoplasm' 'benign blood vessel neoplasm' SubClassOf 'cardiovascular organ benign neoplasm' http://www.ebi.ac.uk/efo/EFO_0007136 agnosia 'agnosia' EquivalentTo 'perceptual disorders' and ('disease has major feature' some 'Disturbed sensory perception') 'agnosia' SubClassOf 'disease has major feature' some 'Disturbed sensory perception' 'agnosia' EquivalentTo 'perceptual disorders' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Disturbed sensory perception') 'agnosia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Disturbed sensory perception' http://www.ebi.ac.uk/efo/EFO_0007140 allergic bronchopulmonary aspergillosis 'allergic bronchopulmonary aspergillosis' SubClassOf 'allergic respiratory disease' 'allergic bronchopulmonary aspergillosis' SubClassOf 'allergic respiratory disease' http://www.ebi.ac.uk/efo/EFO_0007153 asbestosis 'asbestosis' SubClassOf 'pneumoconiosis' 'asbestosis' SubClassOf 'pneumoconiosis' http://www.ebi.ac.uk/efo/EFO_0007190 campylobacteriosis 'campylobacteriosis' SubClassOf 'gastroenteritis' 'campylobacteriosis' SubClassOf 'gastroenteritis' http://www.ebi.ac.uk/efo/EFO_0007195 cat-scratch disease 'cat-scratch disease' SubClassOf 'bartonellosis' 'cat-scratch disease' SubClassOf 'bartonellosis' http://www.ebi.ac.uk/efo/EFO_0007184 bronchopneumonia 'bronchopneumonia' SubClassOf 'pneumonia' 'bronchopneumonia' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/GO_0006506 GPI anchor biosynthetic process 'GPI anchor biosynthetic process' SubClassOf 'protein modification process' http://purl.obolibrary.org/obo/MONDO_0014903 seizures, benign familial infantile, 5 'seizures, benign familial infantile, 5' SubClassOf 'benign familial infantile epilepsy' 'seizures, benign familial infantile, 5' SubClassOf 'benign familial infantile epilepsy' http://purl.obolibrary.org/obo/MONDO_0014935 frontometaphyseal dysplasia 2 'frontometaphyseal dysplasia 2' SubClassOf 'frontometaphyseal dysplasia' 'frontometaphyseal dysplasia 2' SubClassOf 'frontometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014930 intellectual disability, autosomal recessive 56 'intellectual disability, autosomal recessive 56' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 56' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type) 'mitochondrial DNA depletion syndrome 15 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 15 (hepatocerebral type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 'mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014951 intellectual developmental disorder, autosomal recessive 74 'intellectual developmental disorder, autosomal recessive 74' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual developmental disorder, autosomal recessive 74' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014953 gnb5-related intellectual disability-cardiac arrhythmia syndrome 'gnb5-related intellectual disability-cardiac arrhythmia syndrome' SubClassOf 'autosomal recessive disease' 'gnb5-related intellectual disability-cardiac arrhythmia syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0014962 intellectual disability, autosomal recessive 57 'intellectual disability, autosomal recessive 57' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 57' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014975 autosomal recessive spastic paraplegia type 78 'autosomal recessive spastic paraplegia type 78' SubClassOf 'autosomal recessive disease' 'autosomal recessive spastic paraplegia type 78' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft 'orofacial cleft' SubClassOf 'disease_has_basis_in_development_of' some 'embryonic facial prominence' 'orofacial cleft' SubClassOf 'disease has major feature' some 'Orofacial cleft' 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Orofacial cleft' 'orofacial cleft' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_basis_in_development_of some 'embryonic facial prominence' http://purl.obolibrary.org/obo/MONDO_0014993 myofibrillar myopathy 8 'myofibrillar myopathy 8' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 8' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0014996 intellectual disability, autosomal recessive 58 'intellectual disability, autosomal recessive 58' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 58' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0000359 spondylocostal dysostosis 'spondylocostal dysostosis' SubClassOf 'vertebral column disorder' 'spondylocostal dysostosis' SubClassOf 'vertebral column disorder' http://purl.obolibrary.org/obo/MONDO_0000386 digestive system neuroendocrine tumor, grade 1/2 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'digestive system neuroendocrine neoplasm' 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'digestive system neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0000385 benign digestive system neoplasm 'benign digestive system neoplasm' SubClassOf 'benign neoplasm' 'benign digestive system neoplasm' SubClassOf 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0000380 paranasal sinus carcinoma 'paranasal sinus carcinoma' SubClassOf 'paranasal sinus cancer' 'paranasal sinus carcinoma' SubClassOf 'paranasal sinus cancer' http://purl.obolibrary.org/obo/MONDO_0000397 ataxic cerebral palsy 'ataxic cerebral palsy' SubClassOf 'cerebral palsy' 'ataxic cerebral palsy' SubClassOf 'cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0000396 spastic cerebral palsy 'spastic cerebral palsy' SubClassOf 'cerebral palsy' 'spastic cerebral palsy' SubClassOf 'cerebral palsy' http://purl.obolibrary.org/obo/MONDO_0000162 autoimmune thyroid disease, susceptibility to 'autoimmune thyroid disease, susceptibility to' SubClassOf 'predisposes towards' some 'autoimmune thyroid disease' 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autoimmune thyroid disease') 'autoimmune thyroid disease, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autoimmune thyroid disease' 'autoimmune thyroid disease, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autoimmune thyroid disease') http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome 'Neu-Laxova syndrome' SubClassOf 'lissencephaly type 3' 'Neu-Laxova syndrome' SubClassOf 'lissencephaly type 3' http://purl.obolibrary.org/obo/MONDO_0000172 muscular dystrophy-dystroglycanopathy, type B 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'muscular dystrophy-dystroglycanopathy' 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'muscular dystrophy-dystroglycanopathy' http://purl.obolibrary.org/obo/MONDO_0700117 SLC6A3-related dopamine transporter deficiency syndrome 'SLC6A3-related dopamine transporter deficiency syndrome' SubClassOf 'movement disorder' 'SLC6A3-related dopamine transporter deficiency syndrome' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0000188 GLUT1 deficiency syndrome 'GLUT1 deficiency syndrome' SubClassOf 'glucose transport disorder' http://www.ebi.ac.uk/efo/EFO_0007466 retroperitoneal cancer 'retroperitoneal cancer' SubClassOf 'retroperitoneal neoplasm' 'retroperitoneal cancer' SubClassOf 'retroperitoneal neoplasm' http://www.ebi.ac.uk/efo/EFO_0007492 splenic tuberculosis 'splenic tuberculosis' SubClassOf 'splenic disease' 'splenic tuberculosis' SubClassOf 'abdominal tuberculosis' 'splenic tuberculosis' SubClassOf 'splenic disease' 'splenic tuberculosis' SubClassOf 'abdominal tuberculosis' http://www.ebi.ac.uk/efo/EFO_0007491 spleen cancer 'spleen cancer' SubClassOf 'spleen neoplasm' 'spleen cancer' SubClassOf 'spleen neoplasm' http://www.ebi.ac.uk/efo/EFO_0007480 scrub typhus 'scrub typhus' SubClassOf 'typhus' 'scrub typhus' SubClassOf 'typhus' http://purl.obolibrary.org/obo/MONDO_0024183 wet beriberi 'wet beriberi' SubClassOf 'beriberi' 'wet beriberi' SubClassOf 'beriberi' http://purl.obolibrary.org/obo/MONDO_0014802 Cowden syndrome 7 'Cowden syndrome 7' SubClassOf 'Cowden disease' 'Cowden syndrome 7' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0014809 DDX41-related hematologic malignancy predisposition syndrome 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf 'predisposes towards' some 'Myelodysplastic/Myeloproliferative Neoplasm' 'DDX41-related hematologic malignancy predisposition syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Myelodysplastic/Myeloproliferative Neoplasm' http://purl.obolibrary.org/obo/MONDO_0014810 pancytopenia due to IKZF1 mutations 'pancytopenia due to IKZF1 mutations' SubClassOf 'common variable immunodeficiency' 'pancytopenia due to IKZF1 mutations' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0014820 mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) 'mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0014847 spermatogenic failure 15 'spermatogenic failure 15' SubClassOf 'azoospermia' 'spermatogenic failure 15' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0014867 spinocerebellar ataxia 43 'spinocerebellar ataxia 43' SubClassOf 'autosomal dominant cerebellar ataxia' 'spinocerebellar ataxia 43' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014865 autosomal recessive severe congenital neutropenia due to CSF3R deficiency 'autosomal recessive severe congenital neutropenia due to CSF3R deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' 'autosomal recessive severe congenital neutropenia due to CSF3R deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0014864 hypermanganesemia with dystonia 2 'hypermanganesemia with dystonia 2' SubClassOf 'hypermanganesemia with dystonia' 'hypermanganesemia with dystonia 2' SubClassOf 'hypermanganesemia with dystonia' http://purl.obolibrary.org/obo/MONDO_0000236 oropharyngeal anthrax 'oropharyngeal anthrax' SubClassOf 'gastrointestinal anthrax' 'oropharyngeal anthrax' SubClassOf 'gastrointestinal anthrax' http://purl.obolibrary.org/obo/MONDO_0700057 neurological pain disorder 'neurological pain disorder' EquivalentTo 'nervous system disease' and ('disease has major feature' some 'Pain') 'neurological pain disorder' SubClassOf 'disease has major feature' some 'Pain' 'neurological pain disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Pain' 'neurological pain disorder' EquivalentTo 'nervous system disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Pain') http://www.ebi.ac.uk/efo/EFO_0007408 orbital cancer 'orbital cancer' SubClassOf 'orbit neoplasm' 'orbital cancer' SubClassOf 'orbit neoplasm' http://www.ebi.ac.uk/efo/EFO_0007407 oral tuberculosis 'oral tuberculosis' SubClassOf 'mouth disease' 'oral tuberculosis' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0014883 hypertrophic cardiomyopathy 26 'hypertrophic cardiomyopathy 26' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 26' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0700041 neuroblastoma, susceptibility to, 2 'neuroblastoma, susceptibility to, 2' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to, 2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0000252 inflammatory diarrhea 'inflammatory diarrhea' SubClassOf 'diarrheal disease' 'inflammatory diarrhea' SubClassOf 'diarrheal disease' http://purl.obolibrary.org/obo/MONDO_0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome' SubClassOf 'intellectual disability, autosomal dominant' http://www.ebi.ac.uk/efo/EFO_0007321 hypopharynx cancer 'hypopharynx cancer' SubClassOf 'neoplasm of hypopharynx' 'hypopharynx cancer' SubClassOf 'neoplasm of hypopharynx' http://www.ebi.ac.uk/efo/EFO_0007326 infectious mononucleosis 'infectious mononucleosis' SubClassOf 'Epstein-Barr virus infection' 'infectious mononucleosis' SubClassOf 'Epstein-Barr virus infection' http://purl.obolibrary.org/obo/MONDO_0014687 retinitis pigmentosa 73 'retinitis pigmentosa 73' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040040 http://purl.obolibrary.org/obo/MONDO_0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Klippel-Feil syndrome' 'Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome' SubClassOf 'Klippel-Feil syndrome' http://www.ebi.ac.uk/efo/EFO_0007319 hyperprolactinemia 'hyperprolactinemia' SubClassOf 'disease has major feature' some 'Increased circulating prolactin concentration' 'hyperprolactinemia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Increased circulating prolactin concentration' http://purl.obolibrary.org/obo/MONDO_0000065 microvascular complications of diabetes, susceptibility 'microvascular complications of diabetes, susceptibility' SubClassOf 'predisposes towards' some 'diabetic retinopathy' 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'diabetic retinopathy') 'microvascular complications of diabetes, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'diabetic retinopathy' 'microvascular complications of diabetes, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'diabetic retinopathy') http://purl.obolibrary.org/obo/MONDO_0000062 isolated microphthalmia 'isolated microphthalmia' SubClassOf 'microphthalmia' 'isolated microphthalmia' SubClassOf 'microphthalmia' http://www.ebi.ac.uk/efo/EFO_0007331 islet cell tumor 'islet cell tumor' SubClassOf 'digestive system neuroendocrine neoplasm' 'islet cell tumor' SubClassOf 'digestive system neuroendocrine neoplasm' http://www.ebi.ac.uk/efo/EFO_0007339 late congenital syphilis 'late congenital syphilis' SubClassOf 'congenital syphilis' 'late congenital syphilis' SubClassOf 'congenital syphilis' http://purl.obolibrary.org/obo/MONDO_0000070 Mycobacterium tuberculosis, susceptibility 'Mycobacterium tuberculosis, susceptibility' SubClassOf 'predisposes towards' some 'tuberculosis' 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'tuberculosis') 'Mycobacterium tuberculosis, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'tuberculosis' 'Mycobacterium tuberculosis, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'tuberculosis') http://www.ebi.ac.uk/efo/EFO_0007357 mansonelliasis 'mansonelliasis' SubClassOf 'filariasis' 'mansonelliasis' SubClassOf 'filariasis' http://www.ebi.ac.uk/efo/EFO_0007387 Mycoplasma pneumoniae pneumonia 'Mycoplasma pneumoniae pneumonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030003 http://www.ebi.ac.uk/efo/EFO_0007392 nervous system cancer 'nervous system cancer' SubClassOf 'cancer' 'nervous system cancer' SubClassOf 'cancer' http://www.ebi.ac.uk/efo/EFO_0007379 mucocutaneous Leishmaniasis 'mucocutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' 'mucocutaneous Leishmaniasis' SubClassOf 'Leishmaniasis' http://www.ebi.ac.uk/efo/EFO_0007380 mucormycosis 'mucormycosis' SubClassOf 'opportunistic mycosis' 'mucormycosis' SubClassOf 'opportunistic mycosis' http://www.ebi.ac.uk/efo/EFO_0007394 neuroschistosomiasis 'neuroschistosomiasis' SubClassOf 'schistosomiasis' 'neuroschistosomiasis' SubClassOf 'schistosomiasis' http://purl.obolibrary.org/obo/GO_0006206 pyrimidine nucleobase metabolic process 'pyrimidine nucleobase metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0014701 spondyloepiphyseal dysplasia, Stanescu type 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia, Stanescu type' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0014717 early-onset Lafora body disease 'early-onset Lafora body disease' SubClassOf 'progressive myoclonus epilepsy' 'early-onset Lafora body disease' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 'primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection' SubClassOf 'inborn error of immunity' 'primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0014719 developmental and epileptic encephalopathy, 35 'developmental and epileptic encephalopathy, 35' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 35' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014727 immunodeficiency 45 'immunodeficiency 45' SubClassOf 'immunodeficiency disease' 'immunodeficiency 45' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014746 SLC39A8-CDG 'SLC39A8-CDG' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'SLC39A8-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC39A8-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'SLC39A8-CDG' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0000108 bacteremia, susceptibility 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'bacteriemia') 'bacteremia, susceptibility' SubClassOf 'predisposes towards' some 'bacteriemia' 'bacteremia, susceptibility' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'bacteriemia' 'bacteremia, susceptibility' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'bacteriemia') http://purl.obolibrary.org/obo/MONDO_0014754 primary coenzyme Q10 deficiency 8 'primary coenzyme Q10 deficiency 8' SubClassOf 'coenzyme Q10 deficiency' 'primary coenzyme Q10 deficiency 8' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0000127 geleophysic dysplasia 'geleophysic dysplasia' SubClassOf 'acromelic dysplasia' 'geleophysic dysplasia' SubClassOf 'acromelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0014765 wooly hair, autosomal recessive 3 'wooly hair, autosomal recessive 3' SubClassOf 'isolated familial wooly hair disorder' 'wooly hair, autosomal recessive 3' SubClassOf 'isolated familial wooly hair disorder' http://purl.obolibrary.org/obo/MONDO_0000136 keratosis follicularis spinulosa decalvans 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis pilaris atrophicans' 'keratosis follicularis spinulosa decalvans' SubClassOf 'keratosis pilaris atrophicans' http://purl.obolibrary.org/obo/MONDO_0014789 CCDC115-CDG 'CCDC115-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'CCDC115-CDG' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0000156 trigonocephaly 'trigonocephaly' SubClassOf 'disease has major feature' some 'Trigonocephaly' 'trigonocephaly' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Trigonocephaly' http://purl.obolibrary.org/obo/MONDO_0000152 thiamine-responsive dysfunction syndrome 'thiamine-responsive dysfunction syndrome' SubClassOf 'disease responds to' some 'vitamin B1' 'thiamine-responsive dysfunction syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'vitamin B1' http://purl.obolibrary.org/obo/MONDO_0014795 exercise intolerance, riboflavin-responsive 'exercise intolerance, riboflavin-responsive' SubClassOf 'disease responds to' some 'riboflavin' 'exercise intolerance, riboflavin-responsive' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'riboflavin' http://purl.obolibrary.org/obo/MONDO_0014790 TMEM199-CDG 'TMEM199-CDG' SubClassOf 'congenital disorder of glycosylation type II' 'TMEM199-CDG' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0014562 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 'neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf 'coenzyme Q10 deficiency' 'neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0014572 Lichtenstein-Knorr syndrome 'Lichtenstein-Knorr syndrome' SubClassOf 'autosomal recessive cerebellar ataxia' 'Lichtenstein-Knorr syndrome' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014597 immunodeficiency 39 'immunodeficiency 39' SubClassOf 'inborn error of immunity' 'immunodeficiency 39' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0014601 autosomal recessive spinocerebellar ataxia 20 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'autosomal recessive cerebellar ataxia' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014615 trichothiodystrophy 2, photosensitive 'trichothiodystrophy 2, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' 'trichothiodystrophy 2, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' http://purl.obolibrary.org/obo/MONDO_0014619 trichothiodystrophy 3, photosensitive 'trichothiodystrophy 3, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' 'trichothiodystrophy 3, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' http://purl.obolibrary.org/obo/MONDO_0014611 multiple mitochondrial dysfunctions syndrome 4 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0014639 familial temporal lobe epilepsy 7 'familial temporal lobe epilepsy 7' SubClassOf 'temporal lobe epilepsy' 'familial temporal lobe epilepsy 7' SubClassOf 'temporal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0014636 combined oxidative phosphorylation defect type 25 'combined oxidative phosphorylation defect type 25' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation defect type 25' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0014654 Ullrich congenital muscular dystrophy 2 'Ullrich congenital muscular dystrophy 2' SubClassOf 'Ullrich congenital muscular dystrophy' 'Ullrich congenital muscular dystrophy 2' SubClassOf 'Ullrich congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0700249 epidermolytic hyperkeratosis 1 'epidermolytic hyperkeratosis 1' SubClassOf 'epidermolytic ichthyosis' 'epidermolytic hyperkeratosis 1' SubClassOf 'epidermolytic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency 'autosomal recessive severe congenital neutropenia due to JAGN1 deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' 'autosomal recessive severe congenital neutropenia due to JAGN1 deficiency' SubClassOf 'autosomal recessive severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0014454 Hennekam lymphangiectasia-lymphedema syndrome 2 'Hennekam lymphangiectasia-lymphedema syndrome 2' SubClassOf 'Hennekam syndrome' 'Hennekam lymphangiectasia-lymphedema syndrome 2' SubClassOf 'Hennekam syndrome' http://purl.obolibrary.org/obo/MONDO_0014466 Neu-Laxova syndrome 2 'Neu-Laxova syndrome 2' SubClassOf 'Neu-Laxova syndrome' 'Neu-Laxova syndrome 2' SubClassOf 'Neu-Laxova syndrome' http://purl.obolibrary.org/obo/MONDO_0014476 episodic ataxia type 8 'episodic ataxia type 8' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia type 8' SubClassOf 'hereditary episodic ataxia' http://www.ebi.ac.uk/efo/EFO_0007503 suppurative otitis media 'suppurative otitis media' SubClassOf 'Otitis media' 'suppurative otitis media' SubClassOf 'Otitis media' http://purl.obolibrary.org/obo/MONDO_0014518 platelet-type bleeding disorder 19 'platelet-type bleeding disorder 19' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 19' SubClassOf 'inherited bleeding disorder, platelet-type' http://www.ebi.ac.uk/efo/EFO_0007519 trench fever 'trench fever' SubClassOf 'bartonellosis' 'trench fever' SubClassOf 'bartonellosis' http://purl.obolibrary.org/obo/MONDO_0014532 autosomal dominant mitochondrial myopathy with exercise intolerance 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'inborn mitochondrial myopathy' 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0014536 thrombocytopenia 5 'thrombocytopenia 5' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia 5' SubClassOf 'inherited thrombocytopenia' http://www.ebi.ac.uk/efo/EFO_0007544 Waterhouse-Friderichsen syndrome 'Waterhouse-Friderichsen syndrome' SubClassOf 'acute adrenal insufficiency' 'Waterhouse-Friderichsen syndrome' SubClassOf 'acute adrenal insufficiency' http://www.ebi.ac.uk/efo/EFO_0007541 viral pneumonia 'viral pneumonia' SubClassOf 'pneumonia' 'viral pneumonia' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/MONDO_0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic disease' 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009818 autosomal recessive osteopetrosis 3 'autosomal recessive osteopetrosis 3' SubClassOf 'autosomal recessive osteopetrosis' 'autosomal recessive osteopetrosis 3' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0009816 autosomal recessive osteopetrosis 2 'autosomal recessive osteopetrosis 2' SubClassOf 'autosomal recessive osteopetrosis' 'autosomal recessive osteopetrosis 2' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0009815 autosomal recessive osteopetrosis 1 'autosomal recessive osteopetrosis 1' SubClassOf 'autosomal recessive osteopetrosis' 'autosomal recessive osteopetrosis 1' SubClassOf 'autosomal recessive osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'syndromic disease' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009824 primary hyperoxaluria type 2 'primary hyperoxaluria type 2' SubClassOf 'primary hyperoxaluria' 'primary hyperoxaluria type 2' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0009823 primary hyperoxaluria type 1 'primary hyperoxaluria type 1' SubClassOf 'primary hyperoxaluria' 'primary hyperoxaluria type 1' SubClassOf 'primary hyperoxaluria' http://purl.obolibrary.org/obo/MONDO_0009820 osteoporosis-pseudoglioma syndrome 'osteoporosis-pseudoglioma syndrome' SubClassOf 'syndromic disease' 'osteoporosis-pseudoglioma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010816 Qazi Markouizos syndrome 'Qazi Markouizos syndrome' SubClassOf 'syndromic disease' 'Qazi Markouizos syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009833 Shwachman-Diamond syndrome 'Shwachman-Diamond syndrome' SubClassOf 'syndromic disease' 'Shwachman-Diamond syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009830 parkinsonian-pyramidal syndrome 'parkinsonian-pyramidal syndrome' SubClassOf 'predisposes towards' some 'young-onset Parkinson disease' 'parkinsonian-pyramidal syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'young-onset Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0010823 rhizomelic chondrodysplasia punctata type 3 'rhizomelic chondrodysplasia punctata type 3' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 3' SubClassOf 'rhizomelic chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0010839 neuronopathy, distal hereditary motor, autosomal dominant 8 'neuronopathy, distal hereditary motor, autosomal dominant 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'neuronopathy, distal hereditary motor, autosomal dominant 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0009852 hereditary intrinsic factor deficiency 'hereditary intrinsic factor deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'hereditary intrinsic factor deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'hereditary intrinsic factor deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0009868 glycogen storage disease IXb 'glycogen storage disease IXb' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease IXb' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart 'lethal congenital glycogen storage disease of heart' SubClassOf 'disorder of glycogen metabolism' 'lethal congenital glycogen storage disease of heart' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009865 glycogen storage disease due to phosphoglycerate mutase deficiency 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0010854 Toriello-Lacassie-Droste syndrome 'Toriello-Lacassie-Droste syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Toriello-Lacassie-Droste syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010853 Helicobacter pylori infection, susceptibility to 'Helicobacter pylori infection, susceptibility to' SubClassOf 'predisposes towards' some 'Helicobacter pylori infectious disease' 'Helicobacter pylori infection, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Helicobacter pylori infectious disease' http://purl.obolibrary.org/obo/MONDO_0010856 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'partial deletion of the short arm of chromosome 16' 'autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis' SubClassOf 'partial deletion of the short arm of chromosome 16' http://purl.obolibrary.org/obo/MONDO_0009876 isolated growth hormone deficiency type IA 'isolated growth hormone deficiency type IA' SubClassOf 'isolated congenital growth hormone deficiency' 'isolated growth hormone deficiency type IA' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0010866 infantile osteopetrosis with neuroaxonal dysplasia 'infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'osteopetrosis' 'infantile osteopetrosis with neuroaxonal dysplasia' SubClassOf 'osteopetrosis' http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease 'autosomal recessive polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' 'autosomal recessive polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' http://purl.obolibrary.org/obo/MONDO_0010879 CODAS syndrome 'CODAS syndrome' SubClassOf 'syndromic disease' 'CODAS syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020213 stromal corneal dystrophy 'stromal corneal dystrophy' SubClassOf 'corneal dystrophy' 'stromal corneal dystrophy' SubClassOf 'corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0019215 classic organic aciduria 'classic organic aciduria' SubClassOf 'inborn organic aciduria' 'classic organic aciduria' SubClassOf 'inborn organic aciduria' http://purl.obolibrary.org/obo/MONDO_0019228 inborn disorder of histidine metabolism 'inborn disorder of histidine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of histidine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019220 inborn disorder of cobalamin metabolism and transport 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'vitamin metabolic disorder' 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'vitamin B12 deficiency' 'inborn disorder of cobalamin metabolism and transport' SubClassOf 'disorder of vitamin and non-protein cofactor absorption and transport' http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder 'peroxisome biogenesis disorder' SubClassOf 'peroxisomal disease' 'peroxisome biogenesis disorder' SubClassOf 'peroxisomal disease' http://purl.obolibrary.org/obo/MONDO_0019251 oligosaccharidosis 'oligosaccharidosis' SubClassOf 'glycoproteinosis' 'oligosaccharidosis' SubClassOf 'glycoproteinosis' http://purl.obolibrary.org/obo/MONDO_0019249 mucopolysaccharidosis 'mucopolysaccharidosis' SubClassOf 'lysosomal storage disease' 'mucopolysaccharidosis' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0019248 mucolipidosis 'mucolipidosis' SubClassOf 'glycoproteinosis' 'mucolipidosis' SubClassOf 'glycoproteinosis' http://purl.obolibrary.org/obo/MONDO_0019242 inborn disorder of branched-chain amino acid metabolism 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019260 adult neuronal ceroid lipofuscinosis 'adult neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'adult neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0019262 juvenile neuronal ceroid lipofuscinosis 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'juvenile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0019261 infantile neuronal ceroid lipofuscinosis 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' 'infantile neuronal ceroid lipofuscinosis' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_8000011 visceral neuropathy, familial, 1, autosomal recessive 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'neuronal intestinal dysplasia' 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'neuronal intestinal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019257 hemochromatosis type 2 'hemochromatosis type 2' SubClassOf 'hereditary hemochromatosis' 'hemochromatosis type 2' SubClassOf 'hereditary hemochromatosis' http://purl.obolibrary.org/obo/MONDO_0019259 classic phenylketonuria 'classic phenylketonuria' SubClassOf 'phenylketonuria' 'classic phenylketonuria' SubClassOf 'phenylketonuria' http://purl.obolibrary.org/obo/MONDO_0020246 inherited vitreoretinopathy 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and ('disease has major feature' some 'Vitreoretinopathy') 'inherited vitreoretinopathy' SubClassOf 'disease has major feature' some 'Vitreoretinopathy' 'inherited vitreoretinopathy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Vitreoretinopathy' 'inherited vitreoretinopathy' EquivalentTo 'genetic disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Vitreoretinopathy') 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') 'hereditary macular dystrophy' EquivalentTo 'inherited retinal dystrophy' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Macular dystrophy') 'hereditary macular dystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0019264 alpha-N-acetylgalactosaminidase deficiency type 3 'alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' 'alpha-N-acetylgalactosaminidase deficiency type 3' SubClassOf 'alpha-N-acetylgalactosaminidase deficiency' http://purl.obolibrary.org/obo/MONDO_0019263 autosomal erythropoietic protoporphyria 'autosomal erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' 'autosomal erythropoietic protoporphyria' SubClassOf 'erythropoietic protoporphyria' http://purl.obolibrary.org/obo/MONDO_0019284 inherited isolated nail anomaly 'inherited isolated nail anomaly' SubClassOf 'nail disorder' 'inherited isolated nail anomaly' SubClassOf 'nail disorder' 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_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' 'hypopigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypopigmentation of the skin' 'hypopigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypopigmentation of the skin') http://purl.obolibrary.org/obo/MONDO_0019289 hyperpigmentation of the skin 'hyperpigmentation of the skin' EquivalentTo 'disease' and ('disease has major feature' some 'Hyperpigmentation of the skin') 'hyperpigmentation of the skin' SubClassOf 'disease has major feature' some 'Hyperpigmentation of the skin' 'hyperpigmentation of the skin' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperpigmentation of the skin' 'hyperpigmentation of the skin' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hyperpigmentation of the skin') http://purl.obolibrary.org/obo/MONDO_0019287 ectodermal dysplasia syndrome 'ectodermal dysplasia syndrome' SubClassOf 'disease_has_basis_in_development_of' some 'ectoderm' 'ectodermal dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_basis_in_development_of some 'ectoderm' http://purl.obolibrary.org/obo/MONDO_0020289 congenital tricuspid malformation 'congenital tricuspid malformation' SubClassOf 'disease has major feature' some 'Abnormal tricuspid valve morphology' 'congenital tricuspid malformation' EquivalentTo 'disease' and ('disease has major feature' some 'Abnormal tricuspid valve morphology') 'congenital tricuspid malformation' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal tricuspid valve morphology' 'congenital tricuspid malformation' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal tricuspid valve morphology') http://purl.obolibrary.org/obo/MONDO_0009709 myopathy, centronuclear, 2 'myopathy, centronuclear, 2' SubClassOf 'autosomal recessive centronuclear myopathy' 'myopathy, centronuclear, 2' SubClassOf 'autosomal recessive centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0010704 otopalatodigital syndrome type 1 'otopalatodigital syndrome type 1' SubClassOf 'otopalatodigital syndrome' 'otopalatodigital syndrome type 1' SubClassOf 'otopalatodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0010706 premature ovarian failure 1 'premature ovarian failure 1' SubClassOf 'inherited primary ovarian failure' 'premature ovarian failure 1' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0009726 proteosome-associated autoinflammatory syndrome 'proteosome-associated autoinflammatory syndrome' SubClassOf 'type 1 interferonopathy of childhood' 'proteosome-associated autoinflammatory syndrome' SubClassOf 'type 1 interferonopathy of childhood' http://purl.obolibrary.org/obo/MONDO_0009722 Bailey-Bloch congenital myopathy 'Bailey-Bloch congenital myopathy' SubClassOf 'congenital myopathy' 'Bailey-Bloch congenital myopathy' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0010714 Pelizeaus-Merzbacher spectrum disorder 'Pelizeaus-Merzbacher spectrum disorder' SubClassOf 'leukodystrophy' 'Pelizeaus-Merzbacher spectrum disorder' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 'sialidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' 'sialidosis type 2' SubClassOf 'sialidosis' 'sialidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' 'sialidosis type 2' SubClassOf 'sialidosis' http://purl.obolibrary.org/obo/MONDO_0009737 galactosialidosis 'galactosialidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'galactosialidosis' SubClassOf 'oligosaccharidosis' 'galactosialidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'galactosialidosis' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0009736 Neu-Laxova syndrome 1 'Neu-Laxova syndrome 1' SubClassOf 'Neu-Laxova syndrome' 'Neu-Laxova syndrome 1' SubClassOf 'Neu-Laxova syndrome' http://purl.obolibrary.org/obo/MONDO_0009734 hyperinsulinemic hypoglycemia, familial, 1 'hyperinsulinemic hypoglycemia, familial, 1' SubClassOf 'hyperinsulinemic hypoglycemia' 'hyperinsulinemic hypoglycemia, familial, 1' SubClassOf 'hyperinsulinemic hypoglycemia' http://purl.obolibrary.org/obo/MONDO_0009733 nephrotic syndrome, type 4 'nephrotic syndrome, type 4' SubClassOf 'familial nephrotic syndrome' 'nephrotic syndrome, type 4' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0009732 congenital nephrotic syndrome, Finnish type 'congenital nephrotic syndrome, Finnish type' SubClassOf 'familial nephrotic syndrome' 'congenital nephrotic syndrome, Finnish type' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome 'Rett syndrome' SubClassOf 'pervasive developmental disorder' 'Rett syndrome' SubClassOf 'pervasive developmental disorder' http://purl.obolibrary.org/obo/MONDO_0010725 X-linked retinoschisis 'X-linked retinoschisis' SubClassOf 'retinoschisis' 'X-linked retinoschisis' SubClassOf 'retinoschisis' http://purl.obolibrary.org/obo/MONDO_0010720 partial androgen insensitivity syndrome 'partial androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' 'partial androgen insensitivity syndrome' SubClassOf 'androgen insensitivity syndrome' http://purl.obolibrary.org/obo/MONDO_0009746 hereditary sensory and autonomic neuropathy type 4 'hereditary sensory and autonomic neuropathy type 4' SubClassOf 'hereditary sensory and autonomic neuropathy' 'hereditary sensory and autonomic neuropathy type 4' SubClassOf 'hereditary sensory and autonomic neuropathy' http://purl.obolibrary.org/obo/MONDO_0009745 neuronal ceroid lipofuscinosis 5 'neuronal ceroid lipofuscinosis 5' SubClassOf 'neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 5' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0009744 neuronal ceroid lipofuscinosis 1 'neuronal ceroid lipofuscinosis 1' SubClassOf 'neuronal ceroid lipofuscinosis' 'neuronal ceroid lipofuscinosis 1' SubClassOf 'neuronal ceroid lipofuscinosis' http://purl.obolibrary.org/obo/MONDO_0009741 neuroblastoma, susceptibility to, 1 'neuroblastoma, susceptibility to, 1' SubClassOf 'predisposes towards' some 'neuroblastoma' 'neuroblastoma, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0010737 spondyloepiphyseal dysplasia tarda, X-linked 'spondyloepiphyseal dysplasia tarda, X-linked' SubClassOf 'spondyloepiphyseal dysplasia tarda' 'spondyloepiphyseal dysplasia tarda, X-linked' SubClassOf 'spondyloepiphyseal dysplasia tarda' http://purl.obolibrary.org/obo/MONDO_0010738 spondylometaphyseal dysplasia, Golden type 'spondylometaphyseal dysplasia, Golden type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Golden type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010731 Simpson-Golabi-Behmel syndrome 'Simpson-Golabi-Behmel syndrome' SubClassOf 'overgrowth syndrome' 'Simpson-Golabi-Behmel syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0010743 thrombocytopenia 1 'thrombocytopenia 1' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia 1' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0009764 ocular motor apraxia, Cogan type 'ocular motor apraxia, Cogan type' SubClassOf 'eye disease' 'ocular motor apraxia, Cogan type' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009762 nystagmus, congenital, autosomal recessive 'nystagmus, congenital, autosomal recessive' SubClassOf 'congenital nystagmus' 'nystagmus, congenital, autosomal recessive' SubClassOf 'congenital nystagmus' http://purl.obolibrary.org/obo/MONDO_0010758 Wieacker-Wolff syndrome 'Wieacker-Wolff syndrome' SubClassOf 'Wieacker-Wolff syndrome (spectrum)' 'Wieacker-Wolff syndrome' SubClassOf 'Wieacker-Wolff syndrome (spectrum)' 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_0009779 autosomal recessive omodysplasia 'autosomal recessive omodysplasia' SubClassOf 'omodysplasia' 'autosomal recessive omodysplasia' SubClassOf 'autosomal recessive disease' 'autosomal recessive omodysplasia' SubClassOf 'omodysplasia' 'autosomal recessive omodysplasia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009776 spermatogenic failure 1 'spermatogenic failure 1' SubClassOf 'azoospermia' 'spermatogenic failure 1' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0009771 oculotrichodysplasia 'oculotrichodysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'oculotrichodysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009787 3-methylglutaconic aciduria type 3 '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 3' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0010779 mitochondrial non-syndromic sensorineural hearing loss 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'mitochondrial non-syndromic sensorineural hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019107 Rh deficiency syndrome 'Rh deficiency syndrome' SubClassOf 'hereditary stomatocytosis' 'Rh deficiency syndrome' SubClassOf 'hereditary stomatocytosis' http://purl.obolibrary.org/obo/MONDO_0010788 Leber hereditary optic neuropathy 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic neuropathy' 'Leber hereditary optic neuropathy' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0010787 Kearns-Sayre syndrome 'Kearns-Sayre syndrome' SubClassOf 'progressive external ophthalmoplegia' 'Kearns-Sayre syndrome' SubClassOf 'progressive external ophthalmoplegia' http://purl.obolibrary.org/obo/MONDO_0009797 orotic aciduria 'orotic aciduria' SubClassOf 'inborn disorder of pyrimidine metabolism' 'orotic aciduria' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009795 orofaciodigital syndrome IX 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome IX' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009794 orofaciodigital syndrome IV 'orofaciodigital syndrome IV' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome IV' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009793 orofaciodigital syndrome III 'orofaciodigital syndrome III' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome III' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0020119 X-linked syndromic intellectual disability 'X-linked syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' 'X-linked syndromic intellectual disability' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019113 benign paroxysmal torticollis of infancy 'benign paroxysmal torticollis of infancy' SubClassOf 'paroxysmal dystonia' 'benign paroxysmal torticollis of infancy' SubClassOf 'paroxysmal dystonia' http://purl.obolibrary.org/obo/MONDO_0010791 myoglobinuria, recurrent 'myoglobinuria, recurrent' SubClassOf 'hereditary myoglobinuria' 'myoglobinuria, recurrent' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0019152 Oguchi disease 'Oguchi disease' SubClassOf 'congenital stationary night blindness' http://purl.obolibrary.org/obo/MONDO_0019149 cholesteryl ester storage disease 'cholesteryl ester storage disease' SubClassOf 'lysosomal acid lipase deficiency' 'cholesteryl ester storage disease' SubClassOf 'lysosomal acid lipase deficiency' http://purl.obolibrary.org/obo/MONDO_0019148 Wolman disease 'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency' 'Wolman disease' SubClassOf 'lysosomal acid lipase deficiency' http://purl.obolibrary.org/obo/MONDO_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://purl.obolibrary.org/obo/MONDO_0019161 pseudohypoaldosteronism type 1 'pseudohypoaldosteronism type 1' SubClassOf 'inherited pseudohypoaldosteronism' 'pseudohypoaldosteronism type 1' SubClassOf 'inherited pseudohypoaldosteronism' http://purl.obolibrary.org/obo/MONDO_0019181 non-syndromic X-linked intellectual disability 'non-syndromic X-linked intellectual disability' SubClassOf 'non-syndromic intellectual disability' 'non-syndromic X-linked intellectual disability' SubClassOf 'non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019193 acquired generalized lipodystrophy 'acquired generalized lipodystrophy' SubClassOf 'generalized lipodystrophy' 'acquired generalized lipodystrophy' SubClassOf 'generalized lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0019197 folinic acid-responsive seizures 'folinic acid-responsive seizures' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' 'folinic acid-responsive seizures' SubClassOf 'metabolic disease involving other neurotransmitter deficiency' http://www.ebi.ac.uk/efo/EFO_1001339 Heart neoplasm 'Heart neoplasm' SubClassOf 'cardiovascular neoplasm' 'Heart neoplasm' SubClassOf 'cardiovascular neoplasm' http://www.ebi.ac.uk/efo/EFO_1001379 neuroleptic malignant syndrome 'neuroleptic malignant syndrome' SubClassOf 'nervous system disease' 'neuroleptic malignant syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_1001380 Niemann-Pick disease 'Niemann-Pick disease' SubClassOf 'sphingolipidosis' 'Niemann-Pick disease' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0009618 microcephaly-cardiomyopathy syndrome 'microcephaly-cardiomyopathy syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'microcephaly-cardiomyopathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0009617 microcephaly 1, primary, autosomal recessive 'microcephaly 1, primary, autosomal recessive' SubClassOf 'autosomal recessive primary microcephaly' 'microcephaly 1, primary, autosomal recessive' SubClassOf 'autosomal recessive primary microcephaly' http://purl.obolibrary.org/obo/MONDO_0009612 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'methylmalonic acidemia' 'methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency' SubClassOf 'methylmalonic acidemia' http://purl.obolibrary.org/obo/MONDO_0009611 3-methylglutaconic aciduria type 4 '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 4' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0009610 3-methylglutaconic aciduria type 1 '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 1' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0010619 X-linked dominant hypophosphatemic rickets 'X-linked dominant hypophosphatemic rickets' SubClassOf 'X-linked dominant disease' 'X-linked dominant hypophosphatemic rickets' SubClassOf 'X-linked dominant disease' 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 'congenital hydrocephalus' 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'L1 syndrome' 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'congenital hydrocephalus' 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'L1 syndrome' http://purl.obolibrary.org/obo/MONDO_0010613 inborn glycerol kinase deficiency 'inborn glycerol kinase deficiency' SubClassOf 'inborn errors of metabolism' 'inborn glycerol kinase deficiency' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0010615 isolated growth hormone deficiency type III 'isolated growth hormone deficiency type III' SubClassOf 'isolated congenital growth hormone deficiency' 'isolated growth hormone deficiency type III' SubClassOf 'isolated congenital growth hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0010622 recessive X-linked ichthyosis 'recessive X-linked ichthyosis' SubClassOf 'X-linked recessive disease' 'recessive X-linked ichthyosis' SubClassOf 'X-linked recessive disease' http://purl.obolibrary.org/obo/MONDO_0010626 hyper-IgM syndrome type 1 'hyper-IgM syndrome type 1' SubClassOf 'hyper-IgM syndrome' 'hyper-IgM syndrome type 1' SubClassOf 'hyper-IgM syndrome' http://purl.obolibrary.org/obo/MONDO_0009642 orofaciodigital syndrome type II 'orofaciodigital syndrome type II' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type II' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0010632 developmental and epileptic encephalopathy, 1 'developmental and epileptic encephalopathy, 1' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 1' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0010631 incontinentia pigmenti 'incontinentia pigmenti' SubClassOf 'ectodermal dysplasia syndrome' 'incontinentia pigmenti' SubClassOf 'congenital vitreoretinal dysplasia' 'incontinentia pigmenti' SubClassOf 'ectodermal dysplasia syndrome' 'incontinentia pigmenti' SubClassOf 'congenital vitreoretinal dysplasia' http://purl.obolibrary.org/obo/MONDO_0009659 mucopolysaccharidosis type 4A 'mucopolysaccharidosis type 4A' SubClassOf 'mucopolysaccharidosis type 4' 'mucopolysaccharidosis type 4A' SubClassOf 'mucopolysaccharidosis type 4' http://purl.obolibrary.org/obo/MONDO_0009658 mucopolysaccharidosis type 3D 'mucopolysaccharidosis type 3D' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3D' SubClassOf 'mucopolysaccharidosis type 3' http://purl.obolibrary.org/obo/MONDO_0009657 mucopolysaccharidosis type 3C 'mucopolysaccharidosis type 3C' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3C' SubClassOf 'mucopolysaccharidosis type 3' http://purl.obolibrary.org/obo/MONDO_0009656 mucopolysaccharidosis type 3B 'mucopolysaccharidosis type 3B' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3B' SubClassOf 'mucopolysaccharidosis type 3' http://purl.obolibrary.org/obo/MONDO_0010645 oculocerebrorenal syndrome 'oculocerebrorenal syndrome' SubClassOf 'syndromic disease' 'oculocerebrorenal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009655 mucopolysaccharidosis type 3A 'mucopolysaccharidosis type 3A' SubClassOf 'mucopolysaccharidosis type 3' 'mucopolysaccharidosis type 3A' SubClassOf 'mucopolysaccharidosis type 3' http://purl.obolibrary.org/obo/MONDO_0010647 spermatogenic failure, X-linked, 2 'spermatogenic failure, X-linked, 2' SubClassOf 'azoospermia' 'spermatogenic failure, X-linked, 2' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0009650 mucolipidosis type II 'mucolipidosis type II' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucolipidosis type II' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0009664 mulibrey nanism 'mulibrey nanism' SubClassOf 'syndromic disease' 'mulibrey nanism' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010657 methylmalonic acidemia with homocystinuria, type cblX 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic acidemia with homocystinuria, type cblX' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0009662 mucopolysaccharidosis type 7 'mucopolysaccharidosis type 7' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 7' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 7' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0010659 FRAXE intellectual disability 'FRAXE intellectual disability' SubClassOf 'non-syndromic X-linked intellectual disability' 'FRAXE intellectual disability' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009661 mucopolysaccharidosis type 6 'mucopolysaccharidosis type 6' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 6' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 6' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 6' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0009660 mucopolysaccharidosis type 4B 'mucopolysaccharidosis type 4B' SubClassOf 'mucopolysaccharidosis type 4' 'mucopolysaccharidosis type 4B' SubClassOf 'mucopolysaccharidosis type 4' http://purl.obolibrary.org/obo/MONDO_0010650 Melnick-Needles syndrome 'Melnick-Needles syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'Melnick-Needles syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease 'Menkes disease' SubClassOf 'disorder of copper metabolism' 'Menkes disease' SubClassOf 'disorder of copper metabolism' http://purl.obolibrary.org/obo/MONDO_0010654 Partington syndrome 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010653 Renpenning syndrome 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010667 Prieto syndrome 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009681 Ullrich congenital muscular dystrophy 1A 'Ullrich congenital muscular dystrophy 1A' SubClassOf 'Ullrich congenital muscular dystrophy' 'Ullrich congenital muscular dystrophy 1A' SubClassOf 'Ullrich congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010661 severe X-linked intellectual disability, Gustavson type 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010665 Wilson-Turner syndrome 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010679 Duchenne muscular dystrophy 'Duchenne muscular dystrophy' SubClassOf 'muscular dystrophy' 'Duchenne muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0009685 Miyoshi myopathy 'Miyoshi myopathy' SubClassOf 'distal myopathy' 'Miyoshi myopathy' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0019008 benign recurrent intrahepatic cholestasis 'benign recurrent intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' 'benign recurrent intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' http://purl.obolibrary.org/obo/MONDO_0010674 mucopolysaccharidosis type 2 'mucopolysaccharidosis type 2' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis type 2' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 2' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor 'kidney Wilms tumor' SubClassOf 'kidney cancer' 'kidney Wilms tumor' SubClassOf 'kidney cancer' http://purl.obolibrary.org/obo/MONDO_0019002 Lhermitte-Duclos disease 'Lhermitte-Duclos disease' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Lhermitte-Duclos disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009699 action myoclonus-renal failure syndrome 'action myoclonus-renal failure syndrome' SubClassOf 'progressive myoclonus epilepsy' 'action myoclonus-renal failure syndrome' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' 'Lafora disease' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0009694 myeloperoxidase deficiency 'myeloperoxidase deficiency' SubClassOf 'functional neutrophil defect' 'myeloperoxidase deficiency' SubClassOf 'functional neutrophil defect' http://purl.obolibrary.org/obo/MONDO_0010683 X-linked myotubular myopathy 'X-linked myotubular myopathy' SubClassOf 'centronuclear myopathy' 'X-linked myotubular myopathy' SubClassOf 'centronuclear myopathy' http://purl.obolibrary.org/obo/MONDO_0019011 Charcot-Marie-Tooth disease type 1 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Charcot-Marie-Tooth disease' 'Charcot-Marie-Tooth disease type 1' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0010691 Norrie disease 'Norrie disease' SubClassOf 'congenital vitreoretinal dysplasia' 'Norrie disease' SubClassOf 'congenital vitreoretinal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010693 nystagmus 1, congenital, X-linked 'nystagmus 1, congenital, X-linked' SubClassOf 'congenital nystagmus' 'nystagmus 1, congenital, X-linked' SubClassOf 'congenital nystagmus' http://purl.obolibrary.org/obo/MONDO_0019037 progressive supranuclear palsy 'progressive supranuclear palsy' SubClassOf 'movement disorder' 'progressive supranuclear palsy' SubClassOf 'movement disorder' http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease 'peroxisomal disease' SubClassOf 'inborn errors of metabolism' 'peroxisomal disease' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism 'inborn errors of metabolism' SubClassOf 'genetic disorder' 'inborn errors of metabolism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy 'leukodystrophy' SubClassOf 'disease has major feature' some 'CNS hypomyelination' 'leukodystrophy' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'CNS hypomyelination' http://www.ebi.ac.uk/efo/EFO_1001272 bacterial pneumonia 'bacterial pneumonia' SubClassOf 'bacterial disease' 'bacterial pneumonia' SubClassOf 'pneumonia' 'bacterial pneumonia' SubClassOf 'bacterial disease' 'bacterial pneumonia' SubClassOf 'pneumonia' http://purl.obolibrary.org/obo/MONDO_0019071 pure hair and nail ectodermal dysplasia 'pure hair and nail ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' 'pure hair and nail ectodermal dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0019083 Leigh syndrome with cardiomyopathy 'Leigh syndrome with cardiomyopathy' SubClassOf 'Leigh syndrome' 'Leigh syndrome with cardiomyopathy' SubClassOf 'Leigh syndrome' http://www.ebi.ac.uk/efo/EFO_1001294 lymphocytic colitis 'lymphocytic colitis' SubClassOf 'microscopic colitis' 'lymphocytic colitis' SubClassOf 'microscopic colitis' http://www.ebi.ac.uk/efo/EFO_1001293 collagenous colitis 'collagenous colitis' SubClassOf 'microscopic colitis' 'collagenous colitis' SubClassOf 'microscopic colitis' http://purl.obolibrary.org/obo/MONDO_0019079 proximal spinal muscular atrophy 'proximal spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0019078 Ritscher-Schinzel syndrome 'Ritscher-Schinzel syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Ritscher-Schinzel syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0020088 familial partial lipodystrophy 'familial partial lipodystrophy' SubClassOf 'hereditary lipodystrophy' 'familial partial lipodystrophy' SubClassOf 'hereditary lipodystrophy' http://www.ebi.ac.uk/efo/EFO_1001437 Tracheal neoplasm 'Tracheal neoplasm' SubClassOf 'respiratory system neoplasm' 'Tracheal neoplasm' SubClassOf 'respiratory system neoplasm' http://www.ebi.ac.uk/efo/EFO_1001444 Tularemia 'Tularemia' SubClassOf 'vector-borne disease' 'Tularemia' SubClassOf 'vector-borne disease' http://www.ebi.ac.uk/efo/EFO_1001442 cardiac tuberculosis 'cardiac tuberculosis' SubClassOf 'heart disease' 'cardiac tuberculosis' SubClassOf 'heart disease' http://www.ebi.ac.uk/efo/EFO_1001467 Hypereosinophilic syndrome 'Hypereosinophilic syndrome' SubClassOf 'disease has major feature' some 'Eosinophilia' 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and ('disease has major feature' some 'Eosinophilia') 'Hypereosinophilic syndrome' EquivalentTo 'syndromic disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Eosinophilia') 'Hypereosinophilic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Eosinophilia' http://www.ebi.ac.uk/efo/EFO_1001473 Non-familial restrictive cardiomyopathy 'Non-familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' 'Non-familial restrictive cardiomyopathy' SubClassOf 'restrictive cardiomyopathy' http://www.ebi.ac.uk/efo/EFO_1001496 Autosomal dominant polycystic kidney disease 'Autosomal dominant polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' 'Autosomal dominant polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' http://www.ebi.ac.uk/efo/EFO_1001402 postencephalitic Parkinson disease 'postencephalitic Parkinson disease' SubClassOf 'disease has major feature' some 'dementia' 'postencephalitic Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0009500 kuru, susceptibility to 'kuru, susceptibility to' SubClassOf 'predisposes towards' some 'kuru' 'kuru, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'kuru' http://purl.obolibrary.org/obo/MONDO_0009517 Donohue syndrome 'Donohue syndrome' SubClassOf 'syndromic disease' 'Donohue syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009514 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'syndromic disease' 'Laurence-Moon syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010502 intellectual disability, X-linked 99, syndromic, female-restricted 'intellectual disability, X-linked 99, syndromic, female-restricted' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked 99, syndromic, female-restricted' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010504 immunodeficiency 47 'immunodeficiency 47' SubClassOf 'inborn error of immunity' 'immunodeficiency 47' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0009528 chylomicron retention disease 'chylomicron retention disease' SubClassOf 'hypobetalipoproteinemia' 'chylomicron retention disease' SubClassOf 'hypobetalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0010512 intellectual disability, X-linked, syndromic, Bain type 'intellectual disability, X-linked, syndromic, Bain type' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual disability, X-linked, syndromic, Bain type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010514 combined immunodeficiency due to moesin deficiency 'combined immunodeficiency due to moesin deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to moesin deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009520 3-hydroxy-3-methylglutaric aciduria '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'classic organic aciduria' '3-hydroxy-3-methylglutaric aciduria' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009533 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease 'Fabry disease' SubClassOf 'sphingolipidosis' 'Fabry disease' SubClassOf 'sphingolipidosis' http://purl.obolibrary.org/obo/MONDO_0009530 lipoid proteinosis 'lipoid proteinosis' SubClassOf 'inherited lipid metabolism disorder' 'lipoid proteinosis' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0010529 X-linked spinocerebellar ataxia type 3 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked cerebellar ataxia' 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010520 X-linked Alport syndrome 'X-linked Alport syndrome' SubClassOf 'Alport syndrome' 'X-linked Alport syndrome' SubClassOf 'Alport syndrome' http://purl.obolibrary.org/obo/MONDO_0010534 X-linked spinocerebellar ataxia type 4 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked cerebellar ataxia' 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010532 infantile-onset X-linked spinal muscular atrophy 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' 'infantile-onset X-linked spinal muscular atrophy' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009557 mandibuloacral dysplasia with type A lipodystrophy 'mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'mandibuloacral dysplasia' 'mandibuloacral dysplasia with type A lipodystrophy' SubClassOf 'mandibuloacral dysplasia' http://purl.obolibrary.org/obo/MONDO_0010547 X-linked progressive cerebellar ataxia 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010543 Barth syndrome 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' 'Barth syndrome' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0009567 Marinesco-Sjogren syndrome 'Marinesco-Sjogren syndrome' SubClassOf 'syndromic disease' 'Marinesco-Sjogren syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010559 MASA syndrome 'MASA syndrome' SubClassOf 'L1 syndrome' 'MASA syndrome' SubClassOf 'L1 syndrome' http://purl.obolibrary.org/obo/MONDO_0009564 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'Marden-Walker syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0009563 maple syrup urine disease 'maple syrup urine disease' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' 'maple syrup urine disease' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0009562 beta-mannosidosis 'beta-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'beta-mannosidosis' SubClassOf 'oligosaccharidosis' 'beta-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'beta-mannosidosis' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0009561 alpha-mannosidosis 'alpha-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'alpha-mannosidosis' SubClassOf 'oligosaccharidosis' 'alpha-mannosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'alpha-mannosidosis' SubClassOf 'oligosaccharidosis' http://purl.obolibrary.org/obo/MONDO_0010554 Abruzzo-Erickson syndrome 'Abruzzo-Erickson syndrome' SubClassOf 'syndromic disease' 'Abruzzo-Erickson syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010569 X-linked complicated corpus callosum dysgenesis 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'L1 syndrome' 'X-linked complicated corpus callosum dysgenesis' SubClassOf 'L1 syndrome' http://purl.obolibrary.org/obo/MONDO_0009575 thiamine-responsive megaloblastic anemia syndrome 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'autosomal recessive disease' 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010560 cleft palate with or without ankyloglossia, X-linked 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'cleft palate' 'cleft palate with or without ankyloglossia, X-linked' SubClassOf 'cleft palate' http://purl.obolibrary.org/obo/MONDO_0009580 intellectual disability, autosomal recessive 1 'intellectual disability, autosomal recessive 1' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 1' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010563 blue cone monochromacy 'blue cone monochromacy' SubClassOf 'X-linked recessive disease' 'blue cone monochromacy' SubClassOf 'X-linked recessive disease' http://purl.obolibrary.org/obo/MONDO_0009593 spondylometaphyseal dysplasia, Sedaghatian type 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'spondylometaphyseal dysplasia' 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010571 otopalatodigital syndrome type 2 'otopalatodigital syndrome type 2' SubClassOf 'otopalatodigital syndrome' 'otopalatodigital syndrome type 2' SubClassOf 'otopalatodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0010570 craniofrontonasal syndrome 'craniofrontonasal syndrome' SubClassOf 'syndromic disease' 'craniofrontonasal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010574 syndromic X-linked intellectual disability 5 'syndromic X-linked intellectual disability 5' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'syndromic X-linked intellectual disability 5' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'syndromic X-linked intellectual disability 5' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010576 X-linked mixed hearing loss with perilymphatic gusher 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'X-linked nonsyndromic hearing loss' 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'X-linked nonsyndromic hearing loss' 'X-linked mixed hearing loss with perilymphatic gusher' SubClassOf 'prelingual non-syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010589 Aarskog-Scott syndrome, X-linked 'Aarskog-Scott syndrome, X-linked' SubClassOf 'faciodigitogenital syndrome' 'Aarskog-Scott syndrome, X-linked' SubClassOf 'faciodigitogenital syndrome' http://purl.obolibrary.org/obo/MONDO_0009595 cartilage-hair hypoplasia 'cartilage-hair hypoplasia' SubClassOf 'immuno-osseous dysplasia' 'cartilage-hair hypoplasia' SubClassOf 'ectodermal dysplasia syndrome' 'cartilage-hair hypoplasia' SubClassOf 'immuno-osseous dysplasia' 'cartilage-hair hypoplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010585 X-linked hypohidrotic ectodermal dysplasia 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' 'X-linked hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010588 exudative vitreoretinopathy 2, X-linked 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'X-linked disease' 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'exudative vitreoretinopathy' 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'X-linked disease' 'exudative vitreoretinopathy 2, X-linked' SubClassOf 'exudative vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_0010590 FG syndrome 1 'FG syndrome 1' SubClassOf 'fg syndrome' 'FG syndrome 1' SubClassOf 'fg syndrome' http://www.ebi.ac.uk/efo/EFO_1001110 pituitary-dependent Cushing's disease 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' 'pituitary-dependent Cushing's disease' SubClassOf 'Cushing syndrome' http://www.ebi.ac.uk/efo/EFO_1001121 prediabetes syndrome 'prediabetes syndrome' SubClassOf 'glucose metabolism disease' 'prediabetes syndrome' SubClassOf 'glucose metabolism disease' http://purl.obolibrary.org/obo/MONDO_0009405 cervical hypertrichosis-peripheral neuropathy syndrome 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 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_0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency 'glycogen storage disorder due to hepatic glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disorder due to hepatic glycogen synthase deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009413 immunodeficiency, common variable, 2 'immunodeficiency, common variable, 2' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 2' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0010402 syndromic X-linked intellectual disability 94 'syndromic X-linked intellectual disability 94' SubClassOf 'X-linked syndromic intellectual disability' 'syndromic X-linked intellectual disability 94' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010404 X-linked non progressive cerebellar ataxia 'X-linked non progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' 'X-linked non progressive cerebellar ataxia' SubClassOf 'X-linked cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0010406 chromosome Xp11.22 duplication syndrome 'chromosome Xp11.22 duplication syndrome' SubClassOf 'non-syndromic X-linked intellectual disability' 'chromosome Xp11.22 duplication syndrome' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'syndromic disease' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009426 hypoparathyroidism-retardation-dysmorphism syndrome 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'syndromic disease' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010417 syndromic X-linked intellectual disability Najm type 'syndromic X-linked intellectual disability Najm type' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'syndromic X-linked intellectual disability Najm type' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010426 X-linked endothelial corneal dystrophy 'X-linked endothelial corneal dystrophy' SubClassOf 'posterior corneal dystrophy' 'X-linked endothelial corneal dystrophy' SubClassOf 'posterior corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0010435 nystagmus 6, congenital, X-linked 'nystagmus 6, congenital, X-linked' SubClassOf 'congenital nystagmus' 'nystagmus 6, congenital, X-linked' SubClassOf 'congenital nystagmus' http://purl.obolibrary.org/obo/MONDO_0010437 severe X-linked mitochondrial encephalomyopathy 'severe X-linked mitochondrial encephalomyopathy' SubClassOf 'combined oxidative phosphorylation deficiency' 'severe X-linked mitochondrial encephalomyopathy' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0009440 ichthyosiform erythroderma, corneal involvement, and hearing loss 'ichthyosiform erythroderma, corneal involvement, and hearing loss' SubClassOf 'KID syndrome' 'ichthyosiform erythroderma, corneal involvement, and hearing loss' SubClassOf 'KID syndrome' http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia 'Schimke immuno-osseous dysplasia' SubClassOf 'immuno-osseous dysplasia' 'Schimke immuno-osseous dysplasia' SubClassOf 'immuno-osseous dysplasia' http://purl.obolibrary.org/obo/MONDO_0010447 intellectual disability, X-linked 19 'intellectual disability, X-linked 19' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 19' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009452 Vici syndrome 'Vici syndrome' SubClassOf 'syndromic disease' 'Vici syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009461 spermatogenic failure 5 'spermatogenic failure 5' SubClassOf 'azoospermia' 'spermatogenic failure 5' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0009469 benign recurrent intrahepatic cholestasis type 1 'benign recurrent intrahepatic cholestasis type 1' SubClassOf 'benign recurrent intrahepatic cholestasis' 'benign recurrent intrahepatic cholestasis type 1' SubClassOf 'benign recurrent intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0009470 Baraitser-Winter syndrome 1 'Baraitser-Winter syndrome 1' SubClassOf 'Baraitser-Winter cerebrofrontofacial syndrome' 'Baraitser-Winter syndrome 1' SubClassOf 'Baraitser-Winter cerebrofrontofacial syndrome' http://purl.obolibrary.org/obo/MONDO_0010455 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'combined immunodeficiency' 'X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0009478 combined immunodeficiency due to DOCK8 deficiency 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'hyper-IgE syndrome' 'combined immunodeficiency due to DOCK8 deficiency' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0009480 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Joubert syndrome with oculorenal defect' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'multiple congenital anomalies-hypotonia-seizures syndrome' http://purl.obolibrary.org/obo/MONDO_0009486 autosomal recessive Kenny-Caffey syndrome 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'Kenny-Caffey syndrome' 'autosomal recessive Kenny-Caffey syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 'developmental and epileptic encephalopathy, 36' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 36' SubClassOf 'congenital disorder of glycosylation type I' 'developmental and epileptic encephalopathy, 36' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 36' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0009490 Papillon-Lefevre disease 'Papillon-Lefevre disease' SubClassOf 'autosomal recessive disease' 'Papillon-Lefevre disease' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010475 X-linked central congenital hypothyroidism with late-onset testicular enlargement 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'syndromic disease' 'X-linked central congenital hypothyroidism with late-onset testicular enlargement' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010478 SLC35A2-congenital disorder of glycosylation 'SLC35A2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A2-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease 'Krabbe disease' SubClassOf 'leukodystrophy' 'Krabbe disease' SubClassOf 'sphingolipidosis' 'Krabbe disease' SubClassOf 'disease has basis in accumulation of' some 'psychosine' 'Krabbe disease' SubClassOf 'leukodystrophy' 'Krabbe disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_basis_in_accumulation_of some 'psychosine' 'Krabbe disease' SubClassOf 'sphingolipidosis' http://www.ebi.ac.uk/efo/EFO_1001036 Meckel's diverticulum 'Meckel's diverticulum' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0010485 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'X-linked disease' 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'syndromic microphthalmia' 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'X-linked disease' 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0010487 intellectual disability, X-linked 99 'intellectual disability, X-linked 99' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 99' SubClassOf 'non-syndromic X-linked intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001040 meningococcal meningitis 'meningococcal meningitis' SubClassOf 'bacterial meningitis' 'meningococcal meningitis' SubClassOf 'bacterial meningitis' http://purl.obolibrary.org/obo/MONDO_0010490 SSR4-congenital disorder of glycosylation 'SSR4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'SSR4-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://www.ebi.ac.uk/efo/EFO_1001053 myoclonic cerebellar dyssynergia 'myoclonic cerebellar dyssynergia' SubClassOf 'disease shares features of' some 'myoclonic cerebellar dyssynergia' http://www.ebi.ac.uk/efo/EFO_1001059 neonatal myasthenia gravis 'neonatal myasthenia gravis' SubClassOf 'Myasthenia gravis' 'neonatal myasthenia gravis' SubClassOf 'Myasthenia gravis' http://www.ebi.ac.uk/efo/EFO_1001073 optic nerve neoplasm 'optic nerve neoplasm' SubClassOf 'optic nerve disorder' 'optic nerve neoplasm' SubClassOf 'optic nerve disorder' http://www.ebi.ac.uk/efo/EFO_1001081 panophthalmitis 'panophthalmitis' SubClassOf 'purulent endophthalmitis' 'panophthalmitis' SubClassOf 'purulent endophthalmitis' http://www.ebi.ac.uk/efo/EFO_1001087 parathyroid adenoma 'parathyroid adenoma' SubClassOf 'benign neoplasm of parathyroid gland' 'parathyroid adenoma' SubClassOf 'adenoma' 'parathyroid adenoma' SubClassOf 'benign neoplasm of parathyroid gland' 'parathyroid adenoma' SubClassOf 'adenoma' http://www.ebi.ac.uk/efo/EFO_1001094 penile neoplasm 'penile neoplasm' SubClassOf 'male reproductive system neoplasm' 'penile neoplasm' SubClassOf 'male reproductive system neoplasm' http://www.ebi.ac.uk/efo/EFO_1001093 Pelger-Huet anomaly 'Pelger-Huet anomaly' SubClassOf 'leukocyte disorder' http://www.ebi.ac.uk/efo/EFO_1001229 maculopapular cutaneous mastocytosis 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' 'maculopapular cutaneous mastocytosis' SubClassOf 'cutaneous mastocytosis' http://www.ebi.ac.uk/efo/EFO_1001249 non-alcoholic steatohepatitis 'non-alcoholic steatohepatitis' SubClassOf 'non-alcoholic fatty liver disease' 'non-alcoholic steatohepatitis' SubClassOf 'non-alcoholic fatty liver disease' http://purl.obolibrary.org/obo/MONDO_0000928 eyelid melanoma 'eyelid melanoma' SubClassOf 'cutaneous melanoma' 'eyelid melanoma' SubClassOf 'cutaneous melanoma' http://www.orpha.net/ORDO/Orphanet_2053 Freeman-Sheldon syndrome 'Freeman-Sheldon syndrome' SubClassOf 'distal arthrogryposis' 'Freeman-Sheldon syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0000944 cerebral artery occlusion 'cerebral artery occlusion' SubClassOf 'cerebrovascular disorder' 'cerebral artery occlusion' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040016 http://purl.obolibrary.org/obo/MONDO_0000952 cancer of long bone of lower limb 'cancer of long bone of lower limb' SubClassOf 'cancer affecting bone of limb skeleton' 'cancer of long bone of lower limb' SubClassOf 'cancer affecting bone of limb skeleton' http://purl.obolibrary.org/obo/MONDO_0000973 external ear lipoma 'external ear lipoma' SubClassOf 'lipoma' 'external ear lipoma' SubClassOf 'lipoma' http://purl.obolibrary.org/obo/MONDO_0000972 gallbladder lipoma 'gallbladder lipoma' SubClassOf 'benign neoplasm of gallbladder' 'gallbladder lipoma' SubClassOf 'benign neoplasm of gallbladder' http://purl.obolibrary.org/obo/MONDO_0009300 Perrault syndrome 1 'Perrault syndrome 1' SubClassOf 'Perrault syndrome' 'Perrault syndrome 1' SubClassOf 'Perrault syndrome' http://purl.obolibrary.org/obo/MONDO_0009312 lipodystrophy due to peptidic growth factors deficiency 'lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'hereditary lipodystrophy' 'lipodystrophy due to peptidic growth factors deficiency' SubClassOf 'hereditary lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0009329 pulmonary venoocclusive disease 2 'pulmonary venoocclusive disease 2' SubClassOf 'pulmonary venoocclusive disease' 'pulmonary venoocclusive disease 2' SubClassOf 'pulmonary venoocclusive disease' http://purl.obolibrary.org/obo/MONDO_0010317 intellectual disability, X-linked, with or without seizures, arx-related 'intellectual disability, X-linked, with or without seizures, arx-related' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked, with or without seizures, arx-related' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010318 FG syndrome 4 'FG syndrome 4' SubClassOf 'fg syndrome' 'FG syndrome 4' SubClassOf 'fg syndrome' http://purl.obolibrary.org/obo/MONDO_0010311 Becker muscular dystrophy 'Becker muscular dystrophy' SubClassOf 'muscular dystrophy' 'Becker muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0010325 X-linked intellectual disability, Stocco dos Santos type 'X-linked intellectual disability, Stocco dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, Stocco dos Santos type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009335 hemolytic uremic syndrome, atypical, susceptibility to, 1 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf 'predisposes towards' some 'atypical hemolytic-uremic syndrome' 'hemolytic uremic syndrome, atypical, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'atypical hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0010328 alpha-thalassemia-myelodysplastic syndrome 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'syndromic disease' 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009348 classic Hodgkin lymphoma 'classic Hodgkin lymphoma' SubClassOf 'Hodgkins lymphoma' 'classic Hodgkin lymphoma' SubClassOf 'Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' 'X-linked intellectual disability-cerebellar hypoplasia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010336 orofaciodigital syndrome VIII 'orofaciodigital syndrome VIII' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome VIII' SubClassOf 'orofaciodigital syndrome' http://purl.obolibrary.org/obo/MONDO_0009345 histidinemia 'histidinemia' SubClassOf 'inborn disorder of histidine metabolism' 'histidinemia' SubClassOf 'inborn disorder of histidine metabolism' http://purl.obolibrary.org/obo/MONDO_0010338 X-linked distal spinal muscular atrophy type 3 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' 'X-linked distal spinal muscular atrophy type 3' SubClassOf 'spinal muscular atrophy' http://purl.obolibrary.org/obo/MONDO_0009351 homocarnosinosis 'homocarnosinosis' SubClassOf 'inborn disorder of peptide metabolism' 'homocarnosinosis' SubClassOf 'inborn disorder of peptide metabolism' http://purl.obolibrary.org/obo/MONDO_0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010359 Dent disease type 2 'Dent disease type 2' SubClassOf 'Dent disease' 'Dent disease type 2' SubClassOf 'Dent disease' http://purl.obolibrary.org/obo/MONDO_0010358 hypophosphatemic rickets, X-linked recessive 'hypophosphatemic rickets, X-linked recessive' SubClassOf 'X-linked recessive disease' 'hypophosphatemic rickets, X-linked recessive' SubClassOf 'X-linked recessive disease' http://purl.obolibrary.org/obo/MONDO_0009367 McKusick-Kaufman syndrome 'McKusick-Kaufman syndrome' SubClassOf 'genetic disorder' 'McKusick-Kaufman syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040050 http://purl.obolibrary.org/obo/MONDO_0009372 encephalopathy due to hydroxykynureninuria 'encephalopathy due to hydroxykynureninuria' SubClassOf 'inborn disorder of tryptophan metabolism' 'encephalopathy due to hydroxykynureninuria' SubClassOf 'inborn disorder of tryptophan metabolism' http://purl.obolibrary.org/obo/MONDO_0009371 3-hydroxyisobutyric aciduria '3-hydroxyisobutyric aciduria' SubClassOf 'classic organic aciduria' '3-hydroxyisobutyric aciduria' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009370 L-2-hydroxyglutaric aciduria 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'L-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://www.ebi.ac.uk/efo/EFO_1001158 retinopathy of prematurity 'retinopathy of prematurity' SubClassOf 'retinopathy' 'retinopathy of prematurity' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040041 http://purl.obolibrary.org/obo/MONDO_0010362 glycogen storage disease IXd 'glycogen storage disease IXd' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease IXd' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009387 familial lipoprotein lipase deficiency 'familial lipoprotein lipase deficiency' SubClassOf 'familial chylomicronemia syndrome' 'familial lipoprotein lipase deficiency' SubClassOf 'familial chylomicronemia syndrome' http://purl.obolibrary.org/obo/MONDO_0009394 juvenile Paget disease 'juvenile Paget disease' SubClassOf 'osteitis deformans' 'juvenile Paget disease' SubClassOf 'osteitis deformans' http://purl.obolibrary.org/obo/MONDO_0010379 Brunner syndrome 'Brunner syndrome' SubClassOf 'X-linked recessive disease' 'Brunner syndrome' SubClassOf 'X-linked recessive disease' http://www.ebi.ac.uk/efo/EFO_1001173 secondary hyperparathyroidism 'secondary hyperparathyroidism' SubClassOf 'hyperparathyroidism' 'secondary hyperparathyroidism' SubClassOf 'hyperparathyroidism' http://www.ebi.ac.uk/efo/EFO_1001171 sebaceous adenocarcinoma 'sebaceous adenocarcinoma' SubClassOf 'sebaceous gland cancer' 'sebaceous adenocarcinoma' SubClassOf 'sebaceous gland cancer' http://www.ebi.ac.uk/efo/EFO_1001175 secondary Parkinson disease 'secondary Parkinson disease' SubClassOf 'disease shares features of' some 'Parkinson disease' 'secondary Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome 'fragile X syndrome' SubClassOf 'syndromic disease' 'fragile X syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001184 small cell sarcoma 'small cell sarcoma' SubClassOf 'sarcoma' 'small cell sarcoma' SubClassOf 'sarcoma' http://purl.obolibrary.org/obo/MONDO_0010396 developmental and epileptic encephalopathy, 2 'developmental and epileptic encephalopathy, 2' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 2' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0010393 intellectual disability, X-linked 93 'intellectual disability, X-linked 93' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 93' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/GO_0072521 purine-containing compound metabolic process 'purine-containing compound metabolic process' SubClassOf 'organonitrogen compound metabolic process' 'purine-containing compound metabolic process' SubClassOf 'metabolic process' http://purl.obolibrary.org/obo/GO_0072522 purine-containing compound biosynthetic process 'purine-containing compound biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' 'purine-containing compound biosynthetic process' SubClassOf 'biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0000816 abdominal obesity-metabolic syndrome 'abdominal obesity-metabolic syndrome' SubClassOf 'syndromic disease' 'abdominal obesity-metabolic syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0000833 bone remodeling disease 'bone remodeling disease' SubClassOf 'bone disease' 'bone remodeling disease' SubClassOf 'bone disease' http://purl.obolibrary.org/obo/MONDO_0000837 bone resorption disease 'bone resorption disease' SubClassOf 'bone remodeling disease' 'bone resorption disease' SubClassOf 'bone remodeling disease' http://purl.obolibrary.org/obo/MONDO_0000836 disease of bone structure 'disease of bone structure' SubClassOf 'disease has major feature' some 'Abnormal skeletal morphology' 'disease of bone structure' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/MONDO_0000863 myopathy, lactic acidosis, and sideroblastic anemia 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'inborn mitochondrial myopathy' 'myopathy, lactic acidosis, and sideroblastic anemia' SubClassOf 'inborn mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0000866 hereditary myoglobinuria 'hereditary myoglobinuria' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0009216 glycogen storage disease due to GLUT2 deficiency 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to GLUT2 deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0010209 xanthinuria type I 'xanthinuria type I' SubClassOf 'hereditary xanthinuria' 'xanthinuria type I' SubClassOf 'hereditary xanthinuria' http://purl.obolibrary.org/obo/MONDO_0010200 Wilson disease 'Wilson disease' SubClassOf 'disorder of copper metabolism' 'Wilson disease' SubClassOf 'disorder of copper metabolism' http://purl.obolibrary.org/obo/MONDO_0009226 fibrochondrogenesis 1 'fibrochondrogenesis 1' SubClassOf 'fibrochondrogenesis' 'fibrochondrogenesis 1' SubClassOf 'fibrochondrogenesis' http://purl.obolibrary.org/obo/MONDO_0009238 hereditary folate malabsorption 'hereditary folate malabsorption' SubClassOf 'disorder of folate metabolism and transport' 'hereditary folate malabsorption' SubClassOf 'disorder of folate metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0009236 Kandori fleck retina 'Kandori fleck retina' SubClassOf 'familial flecked retinopathy' 'Kandori fleck retina' SubClassOf 'familial flecked retinopathy' http://purl.obolibrary.org/obo/MONDO_0009231 acromesomelic dysplasia 2B 'acromesomelic dysplasia 2B' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 2B' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0009240 formiminoglutamic aciduria 'formiminoglutamic aciduria' SubClassOf 'disorder of folate metabolism and transport' 'formiminoglutamic aciduria' SubClassOf 'disorder of folate metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0010225 Dent disease type 1 'Dent disease type 1' SubClassOf 'Dent disease' 'Dent disease type 1' SubClassOf 'Dent disease' http://purl.obolibrary.org/obo/MONDO_0010224 corpus callosum agenesis-abnormal genitalia syndrome 'corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf 'syndromic disease' 'corpus callosum agenesis-abnormal genitalia syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0024878 secondary carcinoma 'secondary carcinoma' SubClassOf 'carcinoma' 'secondary carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0009249 hereditary fructose intolerance 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism' 'hereditary fructose intolerance' SubClassOf 'disorder of fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0010239 lissencephaly type 1 due to doublecortin gene mutation 'lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'classic lissencephaly' 'lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome 'brittle cornea syndrome' SubClassOf 'autosomal recessive disease' 'brittle cornea syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0009252 essential fructosuria 'essential fructosuria' SubClassOf 'disorder of fructose metabolism' 'essential fructosuria' SubClassOf 'disorder of fructose metabolism' http://purl.obolibrary.org/obo/MONDO_0010233 heterotopia, periventricular, X-linked dominant 'heterotopia, periventricular, X-linked dominant' SubClassOf 'periventricular nodular heterotopia' 'heterotopia, periventricular, X-linked dominant' SubClassOf 'periventricular nodular heterotopia' http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia 'classic galactosemia' SubClassOf 'galactosemia' 'classic galactosemia' SubClassOf 'galactosemia' http://purl.obolibrary.org/obo/MONDO_0009257 galactose epimerase deficiency 'galactose epimerase deficiency' SubClassOf 'galactosemia' 'galactose epimerase deficiency' SubClassOf 'galactosemia' http://purl.obolibrary.org/obo/MONDO_0009255 galactokinase deficiency 'galactokinase deficiency' SubClassOf 'galactosemia' 'galactokinase deficiency' SubClassOf 'galactosemia' http://purl.obolibrary.org/obo/MONDO_0009254 fucosidosis 'fucosidosis' SubClassOf 'oligosaccharidosis' 'fucosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'fucosidosis' SubClassOf 'oligosaccharidosis' 'fucosidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0009263 GAPO syndrome 'GAPO syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'GAPO syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009262 GM1 gangliosidosis type 3 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 3' SubClassOf 'GM1 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0009261 GM1 gangliosidosis type 2 'GM1 gangliosidosis type 2' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 2' SubClassOf 'GM1 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0009260 GM1 gangliosidosis type 1 'GM1 gangliosidosis type 1' SubClassOf 'GM1 gangliosidosis' 'GM1 gangliosidosis type 1' SubClassOf 'GM1 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0010256 intellectual disability, X-linked 21 'intellectual disability, X-linked 21' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 21' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010255 diabetes mellitus, insulin-dependent, X-linked, susceptibility to 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'type 1 diabetes mellitus') 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf 'predisposes towards' some 'type 1 diabetes mellitus' 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'type 1 diabetes mellitus' 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'type 1 diabetes mellitus') http://purl.obolibrary.org/obo/MONDO_0010258 MEHMO syndrome 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009279 triple-A syndrome 'triple-A syndrome' SubClassOf 'syndromic disease' 'triple-A syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'syndromic disease' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009284 glutathione synthetase deficiency without 5-oxoprolinuria 'glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' 'glutathione synthetase deficiency without 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'inborn organic aciduria' 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'inborn organic aciduria' http://purl.obolibrary.org/obo/MONDO_0010266 intellectual disability, X-linked 58 'intellectual disability, X-linked 58' SubClassOf 'non-syndromic X-linked intellectual disability' 'intellectual disability, X-linked 58' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010268 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'X-linked disease' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'lissencephaly spectrum disorders' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'lissencephaly spectrum disorders' 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 'microphthalmia, syndromic 2' SubClassOf 'syndromic microphthalmia' 'microphthalmia, syndromic 2' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA 'glycogen storage disease due to glucose-6-phosphatase deficiency type IA' SubClassOf 'glycogen storage disease I' 'glycogen storage disease due to glucose-6-phosphatase deficiency type IA' SubClassOf 'glycogen storage disease I' http://purl.obolibrary.org/obo/MONDO_0009295 glycogen storage disease VII 'glycogen storage disease VII' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease VII' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009294 glycogen storage disease VI 'glycogen storage disease VI' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease VI' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V 'glycogen storage disease V' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease V' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009292 glycogen storage disease due to glycogen branching enzyme deficiency 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease due to glycogen branching enzyme deficiency' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III 'glycogen storage disease III' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease III' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0009290 glycogen storage disease II 'glycogen storage disease II' SubClassOf 'disorder of glycogen metabolism' 'glycogen storage disease II' SubClassOf 'disorder of glycogen metabolism' http://purl.obolibrary.org/obo/MONDO_0010298 Lesch-Nyhan syndrome 'Lesch-Nyhan syndrome' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' 'Lesch-Nyhan syndrome' SubClassOf 'hypoxanthine-guanine phosphoribosyltransferase deficiency' http://purl.obolibrary.org/obo/MONDO_0010297 FG syndrome 2 'FG syndrome 2' SubClassOf 'fg syndrome' 'FG syndrome 2' SubClassOf 'fg syndrome' http://purl.obolibrary.org/obo/MONDO_0010294 X-linked severe congenital neutropenia 'X-linked severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' 'X-linked severe congenital neutropenia' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0010293 ectodermal dysplasia and immune deficiency 'ectodermal dysplasia and immune deficiency' SubClassOf 'inborn error of immunity' 'ectodermal dysplasia and immune deficiency' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/MONDO_0034054 severe combined immunodeficiency due to CD70 deficiency 'severe combined immunodeficiency due to CD70 deficiency' SubClassOf 'lymphoproliferative syndrome' 'severe combined immunodeficiency due to CD70 deficiency' SubClassOf 'lymphoproliferative syndrome' http://purl.obolibrary.org/obo/MONDO_0010089 isolated sulfite oxidase deficiency 'isolated sulfite oxidase deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' 'isolated sulfite oxidase deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' http://purl.obolibrary.org/obo/MONDO_0010088 mucosulfatidosis 'mucosulfatidosis' SubClassOf 'sphingolipidosis' 'mucosulfatidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucosulfatidosis' SubClassOf 'sphingolipidosis' 'mucosulfatidosis' SubClassOf 'lysosomal storage disease with skeletal involvement' http://purl.obolibrary.org/obo/MONDO_0010080 familial infantile bilateral striatal necrosis 'familial infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' 'familial infantile bilateral striatal necrosis' SubClassOf 'infantile bilateral striatal necrosis' http://purl.obolibrary.org/obo/MONDO_0010083 succinic semialdehyde dehydrogenase deficiency 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'gamma-amino butyric acid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0010091 Cold-induced sweating syndrome 1 'Cold-induced sweating syndrome 1' SubClassOf 'cold-induced sweating syndrome' 'Cold-induced sweating syndrome 1' SubClassOf 'cold-induced sweating syndrome' http://www.ebi.ac.uk/efo/EFO_1001026 lymphangioendothelioma 'lymphangioendothelioma' SubClassOf 'epithelial neoplasm' http://purl.obolibrary.org/obo/MONDO_0000700 familial hemiplegic migraine 'familial hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' 'familial hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0024715 benign synovial neoplasm 'benign synovial neoplasm' SubClassOf 'benign soft tissue neoplasm' 'benign synovial neoplasm' SubClassOf 'benign soft tissue neoplasm' http://purl.obolibrary.org/obo/MONDO_0009109 lysinuric protein intolerance 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid transport' 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0000774 autoimmune neuropathy 'autoimmune neuropathy' SubClassOf 'autoimmune disorder of peripheral nervous system' 'autoimmune neuropathy' SubClassOf 'autoimmune disorder of peripheral nervous system' http://purl.obolibrary.org/obo/MONDO_0009108 hyperdibasic aminoaciduria type 1 'hyperdibasic aminoaciduria type 1' SubClassOf 'inborn disorder of amino acid transport' 'hyperdibasic aminoaciduria type 1' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0009114 congenital sucrase-isomaltase deficiency 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0009112 rhizomelic chondrodysplasia punctata type 2 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'rhizomelic chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata type 2' SubClassOf 'rhizomelic chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0009111 dihydropyrimidinuria 'dihydropyrimidinuria' SubClassOf 'inborn disorder of pyrimidine metabolism' 'dihydropyrimidinuria' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009110 dicarboxylic aminoaciduria 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid transport' 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/MONDO_0010100 Tay-Sachs disease 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' 'Tay-Sachs disease' SubClassOf 'GM2 gangliosidosis' http://purl.obolibrary.org/obo/MONDO_0009124 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Dubowitz syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009123 orthostatic hypotension 1 'orthostatic hypotension 1' SubClassOf 'inherited orthostatic hypotension' 'orthostatic hypotension 1' SubClassOf 'inherited orthostatic hypotension' http://purl.obolibrary.org/obo/MONDO_0010111 odontotrichomelic syndrome 'odontotrichomelic syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'odontotrichomelic syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0024772 intellectual developmental disorder, X-linked, syndromic, Pilorge type 'intellectual developmental disorder, X-linked, syndromic, Pilorge type' SubClassOf 'X-linked syndromic intellectual disability' 'intellectual developmental disorder, X-linked, syndromic, Pilorge type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009134 congenital dyserythropoietic anemia type 2 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 2' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0009133 cerebellar ataxia, intellectual disability, and dysequilibrium 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'syndromic disease' 'cerebellar ataxia, intellectual disability, and dysequilibrium' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010120 thrombocytopenia 3 'thrombocytopenia 3' SubClassOf 'inherited thrombocytopenia' 'thrombocytopenia 3' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0010121 thrombocytopenia-absent radius syndrome 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic disease' 'thrombocytopenia-absent radius syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010130 dihydropyrimidine dehydrogenase deficiency 'dihydropyrimidine dehydrogenase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' 'dihydropyrimidine dehydrogenase deficiency' SubClassOf 'inborn disorder of pyrimidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009151 cleft lip/palate-ectodermal dysplasia syndrome 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'cleft lip/palate-ectodermal dysplasia syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0010132 familial thyroid dyshormonogenesis 'familial thyroid dyshormonogenesis' SubClassOf 'congenital hypothyroidism' 'familial thyroid dyshormonogenesis' SubClassOf 'metabolic disease' 'familial thyroid dyshormonogenesis' SubClassOf 'inherited thyroid metabolism disease' 'familial thyroid dyshormonogenesis' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0010134 Pendred syndrome 'Pendred syndrome' SubClassOf 'syndromic disease' 'Pendred syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010149 transcobalamin II deficiency 'transcobalamin II deficiency' SubClassOf 'inborn vitamin B12 deficiency' 'transcobalamin II deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' 'transcobalamin II deficiency' SubClassOf 'inborn disorder of cobalamin metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0009159 Ehlers-Danlos syndrome, cardiac valvular type 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, cardiac valvular type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0009155 EEM syndrome 'EEM syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'EEM syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0009161 Ehlers-Danlos syndrome, dermatosparaxis type 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, dermatosparaxis type' SubClassOf 'Ehlers-Danlos syndrome' http://purl.obolibrary.org/obo/MONDO_0009166 pontocerebellar hypoplasia type 4 'pontocerebellar hypoplasia type 4' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia type 4' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0010155 Dorfman-Chanarin disease 'Dorfman-Chanarin disease' SubClassOf 'neutral lipid storage disease' 'Dorfman-Chanarin disease' SubClassOf 'neutral lipid storage disease' http://purl.obolibrary.org/obo/MONDO_0010159 mismatch repair cancer syndrome 1 'mismatch repair cancer syndrome 1' SubClassOf 'mismatch repair cancer syndrome' 'mismatch repair cancer syndrome 1' SubClassOf 'mismatch repair cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0034103 infection-related hemolytic uremic syndrome 'infection-related hemolytic uremic syndrome' SubClassOf 'hemolytic-uremic syndrome' 'infection-related hemolytic uremic syndrome' SubClassOf 'hemolytic-uremic syndrome' http://purl.obolibrary.org/obo/MONDO_0009183 junctional epidermolysis bullosa with pyloric atresia 'junctional epidermolysis bullosa with pyloric atresia' SubClassOf 'junctional epidermolysis bullosa' 'junctional epidermolysis bullosa with pyloric atresia' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0009182 junctional epidermolysis bullosa Herlitz type 'junctional epidermolysis bullosa Herlitz type' SubClassOf 'junctional epidermolysis bullosa' 'junctional epidermolysis bullosa Herlitz type' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0010168 Usher syndrome type 1 'Usher syndrome type 1' SubClassOf 'Usher syndrome' 'Usher syndrome type 1' SubClassOf 'Usher syndrome' http://purl.obolibrary.org/obo/MONDO_0009181 epidermolysis bullosa simplex 5B, with muscular dystrophy 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'syndromic disease' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'syndromic disease' 'epidermolysis bullosa simplex 5B, with muscular dystrophy' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0010167 urocanic aciduria 'urocanic aciduria' SubClassOf 'inborn disorder of histidine metabolism' 'urocanic aciduria' SubClassOf 'inborn disorder of histidine metabolism' http://purl.obolibrary.org/obo/MONDO_0009180 junctional epidermolysis bullosa, non-Herlitz type 'junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa' 'junctional epidermolysis bullosa, non-Herlitz type' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0009189 multiple epiphyseal dysplasia type 4 'multiple epiphyseal dysplasia type 4' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia type 4' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010176 orofaciodigital syndrome type 6 'orofaciodigital syndrome type 6' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 6' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'orofaciodigital syndrome type 6' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome type 6' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009192 Wolcott-Rallison syndrome 'Wolcott-Rallison syndrome' SubClassOf 'syndromic disease' 'Wolcott-Rallison syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010178 congenital bilateral aplasia of vas deferens from CFTR mutation 'congenital bilateral aplasia of vas deferens from CFTR mutation' SubClassOf 'congenital bilateral absence of vas deferens' 'congenital bilateral aplasia of vas deferens from CFTR mutation' SubClassOf 'congenital bilateral absence of vas deferens' http://purl.obolibrary.org/obo/MONDO_0010171 Usher syndrome type 1C 'Usher syndrome type 1C' SubClassOf 'Usher syndrome type 1' 'Usher syndrome type 1C' SubClassOf 'Usher syndrome type 1' http://purl.obolibrary.org/obo/MONDO_0010173 Mayer-Rokitansky-Kuster-Hauser syndrome type 1 'Mayer-Rokitansky-Kuster-Hauser syndrome type 1' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' 'Mayer-Rokitansky-Kuster-Hauser syndrome type 1' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'disease shares features of' some 'VACTERL/vater association' 'VACTERL with hydrocephalus' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'VACTERL/vater association' http://purl.obolibrary.org/obo/MONDO_0010185 methylmalonic aciduria and homocystinuria type cblD 'methylmalonic aciduria and homocystinuria type cblD' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic aciduria and homocystinuria type cblD' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0010187 vitamin K-dependent clotting factors, combined deficiency of, type 1 'vitamin K-dependent clotting factors, combined deficiency of, type 1' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' 'vitamin K-dependent clotting factors, combined deficiency of, type 1' SubClassOf 'congenital vitamin K-dependent coagulation factors deficiency' http://purl.obolibrary.org/obo/MONDO_0010184 methylmalonic aciduria and homocystinuria type cblC 'methylmalonic aciduria and homocystinuria type cblC' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic aciduria and homocystinuria type cblC' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0010183 methylmalonic aciduria and homocystinuria type cblF 'methylmalonic aciduria and homocystinuria type cblF' SubClassOf 'methylmalonic aciduria and homocystinuria' 'methylmalonic aciduria and homocystinuria type cblF' SubClassOf 'methylmalonic aciduria and homocystinuria' http://purl.obolibrary.org/obo/MONDO_0010196 Werner syndrome 'Werner syndrome' SubClassOf 'progeroid syndrome' 'Werner syndrome' SubClassOf 'progeroid syndrome' http://purl.obolibrary.org/obo/MONDO_0010190 pontocerebellar hypoplasia type 2A 'pontocerebellar hypoplasia type 2A' SubClassOf 'pontocerebellar hypoplasia type 2' 'pontocerebellar hypoplasia type 2A' SubClassOf 'pontocerebellar hypoplasia type 2' http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome 'Weaver syndrome' SubClassOf 'overgrowth syndrome' 'Weaver syndrome' SubClassOf 'syndromic disease' 'Weaver syndrome' SubClassOf 'overgrowth syndrome' 'Weaver syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0030438 pontocerebellar hypoplasia, type 16 'pontocerebellar hypoplasia, type 16' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia, type 16' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0030434 epilepsy, idiopathic generalized, susceptibility to, 18 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf 'predisposes towards' some 'generalised epilepsy' 'epilepsy, idiopathic generalized, susceptibility to, 18' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0030430 spermatogenic failure 56 'spermatogenic failure 56' SubClassOf 'azoospermia' 'spermatogenic failure 56' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030453 developmental and epileptic encephalopathy 97 'developmental and epileptic encephalopathy 97' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 97' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030473 developmental and epileptic encephalopathy 99 'developmental and epileptic encephalopathy 99' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 99' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030472 developmental and epileptic encephalopathy 98 'developmental and epileptic encephalopathy 98' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 98' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030463 spermatogenic failure 58 'spermatogenic failure 58' SubClassOf 'azoospermia' 'spermatogenic failure 58' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030492 spermatogenic failure 59 'spermatogenic failure 59' SubClassOf 'azoospermia' 'spermatogenic failure 59' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0005301 multiple sclerosis 'multiple sclerosis' SubClassOf 'neuroinflammatory disorder' http://purl.obolibrary.org/obo/CL_1000452 parietal epithelial cell 'parietal epithelial cell' SubClassOf 'epithelial cell' 'parietal epithelial cell' SubClassOf 'squamous epithelial cell' http://purl.obolibrary.org/obo/MONDO_0019942 distal arthrogryposis 'distal arthrogryposis' SubClassOf 'arthrogryposis syndrome' 'distal arthrogryposis' SubClassOf 'arthrogryposis syndrome' http://purl.obolibrary.org/obo/MONDO_0019950 congenital muscular dystrophy 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy' 'congenital muscular dystrophy' SubClassOf 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0019952 congenital myopathy 'congenital myopathy' SubClassOf 'myopathy' 'congenital myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0030318 spinocerebellar ataxia, autosomal recessive 30 'spinocerebellar ataxia, autosomal recessive 30' SubClassOf 'autosomal recessive cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive 30' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0044923 acute myeloid leukemia with mutated NPM1 'acute myeloid leukemia with mutated NPM1' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia with mutated NPM1' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0030307 spermatogenic failure 55 'spermatogenic failure 55' SubClassOf 'azoospermia' 'spermatogenic failure 55' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0005374 bone marrow neoplasm 'bone marrow neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' 'bone marrow neoplasm' SubClassOf 'hematopoietic and lymphoid system neoplasm' http://purl.obolibrary.org/obo/MONDO_0030323 spinocerebellar ataxia, autosomal recessive 31 'spinocerebellar ataxia, autosomal recessive 31' SubClassOf 'autosomal recessive cerebellar ataxia' 'spinocerebellar ataxia, autosomal recessive 31' SubClassOf 'autosomal recessive cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0030326 mitochondrial dna depletion syndrome 16B (neuroophthalmic type) 'mitochondrial dna depletion syndrome 16B (neuroophthalmic type)' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial dna depletion syndrome 16B (neuroophthalmic type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0030355 facioscapulohumeral muscular dystrophy 4, digenic 'facioscapulohumeral muscular dystrophy 4, digenic' SubClassOf 'facioscapulohumeral muscular dystrophy' 'facioscapulohumeral muscular dystrophy 4, digenic' SubClassOf 'facioscapulohumeral muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0020836 autism, susceptiblity to 'autism, susceptiblity to' SubClassOf 'predisposes towards' some 'autism' 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'autism') 'autism, susceptiblity to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism') 'autism, susceptiblity to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'autism' http://purl.obolibrary.org/obo/MONDO_0020850 intellectual disability, autosomal recessive 65 'intellectual disability, autosomal recessive 65' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 65' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020854 Liddle syndrome 2 'Liddle syndrome 2' SubClassOf 'Liddle syndrome' 'Liddle syndrome 2' SubClassOf 'Liddle syndrome' http://purl.obolibrary.org/obo/MONDO_0020852 spermatogenic failure 31 'spermatogenic failure 31' SubClassOf 'azoospermia' 'spermatogenic failure 31' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0020846 intellectual disability, autosomal recessive 64 'intellectual disability, autosomal recessive 64' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 64' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020863 laryngeal diphtheria 'laryngeal diphtheria' SubClassOf 'diphtheria' 'laryngeal diphtheria' SubClassOf 'diphtheria' 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_0005277 migraine disorder 'migraine disorder' SubClassOf 'brain disease' 'migraine disorder' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0030258 pontocerebellar hypoplasia, type 14 'pontocerebellar hypoplasia, type 14' SubClassOf 'pontocerebellar hypoplasia' 'pontocerebellar hypoplasia, type 14' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0005299 brain ischemia 'brain ischemia' SubClassOf 'cerebrovascular disorder' 'brain ischemia' SubClassOf 'cerebrovascular disorder' http://www.ebi.ac.uk/efo/EFO_0001068 malaria 'malaria' SubClassOf 'protozoa infectious disease' 'malaria' SubClassOf 'protozoa infectious disease' http://purl.obolibrary.org/obo/MONDO_0020715 multiple system atrophy 1, susceptibility to 'multiple system atrophy 1, susceptibility to' SubClassOf 'predisposes towards' some 'multiple system atrophy' 'multiple system atrophy 1, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'multiple system atrophy' http://purl.obolibrary.org/obo/MONDO_0020713 pulmonary venoocclusive disease 1 'pulmonary venoocclusive disease 1' SubClassOf 'pulmonary venoocclusive disease' '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' '46,XY sex reversal 1' SubClassOf '46,XY complete gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0020717 autosomal dominant wooly hair 'autosomal dominant wooly hair' SubClassOf 'isolated familial wooly hair disorder' 'autosomal dominant wooly hair' SubClassOf 'isolated familial wooly hair disorder' http://purl.obolibrary.org/obo/MONDO_0020705 neural tube defects, susceptibility to 'neural tube defects, susceptibility to' SubClassOf 'predisposes towards' some 'neural tube defect' 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neural tube defect') 'neural tube defects, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neural tube defect') 'neural tube defects, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neural tube defect' http://purl.obolibrary.org/obo/MONDO_0020730 carpal tunnel syndrome 1 'carpal tunnel syndrome 1' SubClassOf 'carpal tunnel syndrome' 'carpal tunnel syndrome 1' SubClassOf 'carpal tunnel syndrome' http://purl.obolibrary.org/obo/MONDO_0020738 multiple benign circumferential skin creases on limbs 1 'multiple benign circumferential skin creases on limbs 1' SubClassOf 'multiple benign circumferential skin creases on limbs' 'multiple benign circumferential skin creases on limbs 1' SubClassOf 'multiple benign circumferential skin creases on limbs' http://purl.obolibrary.org/obo/MONDO_0044704 oropharynx squamous cell carcinoma 'oropharynx squamous cell carcinoma' SubClassOf 'pharyngeal squamous cell carcinoma' 'oropharynx squamous cell carcinoma' SubClassOf 'oropharyngeal carcinoma' 'oropharynx squamous cell carcinoma' SubClassOf 'pharyngeal squamous cell carcinoma' 'oropharynx squamous cell carcinoma' SubClassOf 'oropharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0020735 ACTH-independent macronodular adrenal hyperplasia 1 'ACTH-independent macronodular adrenal hyperplasia 1' SubClassOf 'Cushing syndrome due to macronodular adrenal hyperplasia' 'ACTH-independent macronodular adrenal hyperplasia 1' SubClassOf 'Cushing syndrome due to macronodular adrenal hyperplasia' http://purl.obolibrary.org/obo/MONDO_0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0020733 proximal symphalangism 1A 'proximal symphalangism 1A' SubClassOf 'proximal symphalangism' 'proximal symphalangism 1A' SubClassOf 'proximal symphalangism' http://purl.obolibrary.org/obo/MONDO_0020724 cerebral cavernous malformation 1 'cerebral cavernous malformation 1' SubClassOf 'famililal cerebral cavernous malformations' 'cerebral cavernous malformation 1' SubClassOf 'famililal cerebral cavernous malformations' http://purl.obolibrary.org/obo/MONDO_0019745 cystinuria type A 'cystinuria type A' SubClassOf 'cystinuria' 'cystinuria type A' SubClassOf 'cystinuria' http://purl.obolibrary.org/obo/MONDO_0020722 nephrolithiasis susceptibility caused by SLC26A1 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf 'predisposes towards' some 'nephrolithiasis' 'nephrolithiasis susceptibility caused by SLC26A1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'nephrolithiasis' http://purl.obolibrary.org/obo/MONDO_0020721 X-linked sideroblastic anemia 1 'X-linked sideroblastic anemia 1' SubClassOf 'inherited sideroblastic anemia' 'X-linked sideroblastic anemia 1' SubClassOf 'inherited sideroblastic anemia' http://purl.obolibrary.org/obo/MONDO_0019746 cystinuria type B 'cystinuria type B' SubClassOf 'cystinuria' 'cystinuria type B' SubClassOf 'cystinuria' http://purl.obolibrary.org/obo/MONDO_0020752 myoclonic epilepsy, juvenile, susceptibility to, 1 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf 'predisposes towards' some 'juvenile myoclonic epilepsy' 'myoclonic epilepsy, juvenile, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'juvenile myoclonic epilepsy' http://purl.obolibrary.org/obo/MONDO_0020757 sporadic hemiplegic migraine 'sporadic hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' 'sporadic hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0019756 lobar holoprosencephaly 'lobar holoprosencephaly' SubClassOf 'holoprosencephaly' 'lobar holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0020756 migraine, familial hemiplegic, 1 'migraine, familial hemiplegic, 1' SubClassOf 'familial hemiplegic migraine' 'migraine, familial hemiplegic, 1' SubClassOf 'familial hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0019757 alobar holoprosencephaly 'alobar holoprosencephaly' SubClassOf 'holoprosencephaly' 'alobar holoprosencephaly' SubClassOf 'holoprosencephaly' http://purl.obolibrary.org/obo/MONDO_0020741 pyridoxine-dependent epilepsy caused by ALDH7A1 mutant 'pyridoxine-dependent epilepsy caused by ALDH7A1 mutant' SubClassOf 'pyridoxine-dependent epilepsy' 'pyridoxine-dependent epilepsy caused by ALDH7A1 mutant' SubClassOf 'pyridoxine-dependent epilepsy' http://purl.obolibrary.org/obo/MONDO_0020740 ectodermal dysplasia and immunodeficiency 1 'ectodermal dysplasia and immunodeficiency 1' SubClassOf 'ectodermal dysplasia and immune deficiency' 'ectodermal dysplasia and immunodeficiency 1' SubClassOf 'ectodermal dysplasia and immune deficiency' http://purl.obolibrary.org/obo/MONDO_0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B 'contractures, pterygia, and variable skeletal fusions syndrome 1B' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' 'contractures, pterygia, and variable skeletal fusions syndrome 1B' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' http://purl.obolibrary.org/obo/MONDO_0019767 hamel cerebro-palato-cardiac syndrome 'hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' 'hamel cerebro-palato-cardiac syndrome' SubClassOf 'Renpenning syndrome' http://purl.obolibrary.org/obo/MONDO_0005148 type 2 diabetes mellitus 'type 2 diabetes mellitus' SubClassOf 'diabetes mellitus' 'type 2 diabetes mellitus' SubClassOf 'diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0005147 type 1 diabetes mellitus 'type 1 diabetes mellitus' SubClassOf 'diabetes mellitus' 'type 1 diabetes mellitus' SubClassOf 'autoimmune disorder of endocrine system' 'type 1 diabetes mellitus' SubClassOf 'diabetes mellitus' 'type 1 diabetes mellitus' SubClassOf 'autoimmune disorder of endocrine system' http://purl.obolibrary.org/obo/MONDO_0020760 skin squamous cell carcinoma in situ 'skin squamous cell carcinoma in situ' SubClassOf 'squamous carcinoma in situ' 'skin squamous cell carcinoma in situ' SubClassOf 'squamous carcinoma in situ' http://purl.obolibrary.org/obo/MONDO_0044723 3-methylglutaconic aciduria type 8 '3-methylglutaconic aciduria type 8' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 8' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0044725 combined immunodeficiency due to GINS1 deficiency 'combined immunodeficiency due to GINS1 deficiency' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to GINS1 deficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0044724 3-methylglutaconic aciduria type 9 '3-methylglutaconic aciduria type 9' SubClassOf '3-methylglutaconic aciduria' '3-methylglutaconic aciduria type 9' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0019797 acrodysostosis 'acrodysostosis' SubClassOf 'mandibulofacial dysostosis' 'acrodysostosis' SubClassOf 'mandibulofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 'galactosemia 4' SubClassOf 'galactosemia' 'galactosemia 4' SubClassOf 'galactosemia' http://purl.obolibrary.org/obo/MONDO_0029145 orofacial cleft 8 'orofacial cleft 8' SubClassOf 'orofacial cleft' 'orofacial cleft 8' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0030134 oculopharyngodistal myopathy 2 'oculopharyngodistal myopathy 2' SubClassOf 'oculopharyngodistal myopathy' 'oculopharyngodistal myopathy 2' SubClassOf 'oculopharyngodistal myopathy' http://purl.obolibrary.org/obo/MONDO_0029133 muscular dystrophy, limb-girdle, autosomal dominant 4 'muscular dystrophy, limb-girdle, autosomal dominant 4' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' 'muscular dystrophy, limb-girdle, autosomal dominant 4' SubClassOf 'muscular dystrophy, limb-girdle, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0029137 hearing loss, autosomal dominant 74 'hearing loss, autosomal dominant 74' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 74' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0029136 muscular dystrophy, limb-girdle, autosomal recessive 23 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' 'muscular dystrophy, limb-girdle, autosomal recessive 23' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0029134 severe combined immunodeficiency due to CARMIL2 deficiency 'severe combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'autosomal recessive disease' 'severe combined immunodeficiency due to CARMIL2 deficiency' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0019609 Zellweger spectrum disorders 'Zellweger spectrum disorders' SubClassOf 'peroxisome biogenesis disorder' 'Zellweger spectrum disorders' SubClassOf 'peroxisome biogenesis disorder' http://www.ebi.ac.uk/efo/EFO_1001950 colon carcinoma 'colon carcinoma' SubClassOf 'colorectal carcinoma' 'colon carcinoma' SubClassOf 'colorectal carcinoma' http://www.ebi.ac.uk/efo/EFO_1001960 hypopharyngeal squamous cell carcinoma 'hypopharyngeal squamous cell carcinoma' SubClassOf 'pharyngeal squamous cell carcinoma' 'hypopharyngeal squamous cell carcinoma' SubClassOf 'hypopharyngeal carcinoma' 'hypopharyngeal squamous cell carcinoma' SubClassOf 'pharyngeal squamous cell carcinoma' 'hypopharyngeal squamous cell carcinoma' SubClassOf 'hypopharyngeal carcinoma' http://purl.obolibrary.org/obo/MONDO_0019624 acquired angioedema 'acquired angioedema' SubClassOf 'angioedema' 'acquired angioedema' SubClassOf 'angioedema' http://www.ebi.ac.uk/efo/EFO_1001974 uterine leiomyosarcoma 'uterine leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'uterine leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0019636 renal agenesis, unilateral 'renal agenesis, unilateral' SubClassOf 'renal agenesis' 'renal agenesis, unilateral' SubClassOf 'renal agenesis' http://www.ebi.ac.uk/efo/EFO_1001975 vulvar leiomyosarcoma 'vulvar leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'vulvar leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://www.ebi.ac.uk/efo/EFO_1001988 Juvenile Polymyositis 'Juvenile Polymyositis' SubClassOf 'polymyositis' 'Juvenile Polymyositis' SubClassOf 'polymyositis' http://purl.obolibrary.org/obo/MONDO_0019648 achondrogenesis 'achondrogenesis' SubClassOf 'spondylodysplastic dysplasia' 'achondrogenesis' SubClassOf 'spondylodysplastic dysplasia' http://www.ebi.ac.uk/efo/EFO_1001992 Scapuloperoneal spinal muscular atrophy 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'hereditary motor neuron disease' 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'autosomal dominant disease' 'Scapuloperoneal spinal muscular atrophy' SubClassOf 'autosomal dominant disease' http://www.ebi.ac.uk/efo/EFO_1001999 systemic juvenile idiopathic arthritis 'systemic juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' 'systemic juvenile idiopathic arthritis' SubClassOf 'juvenile idiopathic arthritis' http://purl.obolibrary.org/obo/MONDO_0019659 Pfeiffer syndrome type 1 'Pfeiffer syndrome type 1' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 1' SubClassOf 'Pfeiffer syndrome' http://purl.obolibrary.org/obo/MONDO_0020655 juvenile ankylosing spondylitis 'juvenile ankylosing spondylitis' SubClassOf 'ankylosing spondylitis' 'juvenile ankylosing spondylitis' SubClassOf 'ankylosing spondylitis' http://purl.obolibrary.org/obo/MONDO_0020640 autoimmune encephalitis 'autoimmune encephalitis' SubClassOf 'encephalitis' 'autoimmune encephalitis' SubClassOf 'encephalitis' http://purl.obolibrary.org/obo/MONDO_0019667 spondyloepiphyseal dysplasia tarda 'spondyloepiphyseal dysplasia tarda' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepiphyseal dysplasia tarda' SubClassOf 'spondyloepiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'syndromic disease' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0019665 monostotic fibrous dysplasia 'monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' 'monostotic fibrous dysplasia' SubClassOf 'fibrous dysplasia' http://purl.obolibrary.org/obo/MONDO_0019660 Pfeiffer syndrome type 2 'Pfeiffer syndrome type 2' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 2' SubClassOf 'Pfeiffer syndrome' http://purl.obolibrary.org/obo/MONDO_0019662 short rib-polydactyly syndrome, Majewski type 'short rib-polydactyly syndrome, Majewski type' SubClassOf 'short rib-polydactyly syndrome' 'short rib-polydactyly syndrome, Majewski type' SubClassOf 'short rib-polydactyly syndrome' http://purl.obolibrary.org/obo/MONDO_0019661 Pfeiffer syndrome type 3 'Pfeiffer syndrome type 3' SubClassOf 'Pfeiffer syndrome' 'Pfeiffer syndrome type 3' SubClassOf 'Pfeiffer syndrome' http://purl.obolibrary.org/obo/MONDO_0019680 genochondromatosis type 2 'genochondromatosis type 2' SubClassOf 'genochondromatosis' 'genochondromatosis type 2' SubClassOf 'genochondromatosis' http://purl.obolibrary.org/obo/MONDO_0019675 spondyloepimetaphyseal dysplasia with joint laxity 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 'Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis' SubClassOf 'Antley-Bixler syndrome' 'Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis' SubClassOf 'Antley-Bixler syndrome' http://purl.obolibrary.org/obo/MONDO_0019682 congenital sialidosis type 2 'congenital sialidosis type 2' SubClassOf 'sialidosis type 2' 'congenital sialidosis type 2' SubClassOf 'sialidosis type 2' http://purl.obolibrary.org/obo/MONDO_0019681 juvenile sialidosis type 2 'juvenile sialidosis type 2' SubClassOf 'sialidosis type 2' 'juvenile sialidosis type 2' SubClassOf 'sialidosis type 2' http://purl.obolibrary.org/obo/MONDO_0030019 anauxetic dysplasia 3 'anauxetic dysplasia 3' SubClassOf 'anauxetic dysplasia' 'anauxetic dysplasia 3' SubClassOf 'anauxetic dysplasia' http://purl.obolibrary.org/obo/MONDO_0030017 combined oxidative phosphorylation deficiency 43 'combined oxidative phosphorylation deficiency 43' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 43' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030008 combined oxidative phosphorylation deficiency 42 'combined oxidative phosphorylation deficiency 42' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 42' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030004 autism, susceptibility to, 20 'autism, susceptibility to, 20' SubClassOf 'autism, susceptiblity to' 'autism, susceptibility to, 20' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0030007 combined oxidative phosphorylation deficiency 41 'combined oxidative phosphorylation deficiency 41' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 41' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030006 combined oxidative phosphorylation deficiency 40 'combined oxidative phosphorylation deficiency 40' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 40' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030031 lissencephaly 10 'lissencephaly 10' SubClassOf 'lissencephaly spectrum disorders' 'lissencephaly 10' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0030027 tremor, hereditary essential, 6 'tremor, hereditary essential, 6' SubClassOf 'essential tremor' 'tremor, hereditary essential, 6' SubClassOf 'essential tremor' http://purl.obolibrary.org/obo/MONDO_0005094 hemangiopericytoma 'hemangiopericytoma' SubClassOf 'Hemangiopericytic Neoplasm' 'hemangiopericytoma' SubClassOf 'Hemangiopericytic Neoplasm' http://purl.obolibrary.org/obo/MONDO_0030020 combined oxidative phosphorylation deficiency 44 'combined oxidative phosphorylation deficiency 44' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 44' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0030059 developmental and epileptic encephalopathy, 87 'developmental and epileptic encephalopathy, 87' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 87' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 'neuronopathy, distal hereditary motor, autosomal recessive 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 8' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0030058 hearing loss, autosomal dominant 77 'hearing loss, autosomal dominant 77' SubClassOf 'autosomal dominant nonsyndromic hearing loss' 'hearing loss, autosomal dominant 77' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0030054 developmental and epileptic encephalopathy, 86 'developmental and epileptic encephalopathy, 86' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 86' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030072 developmental and epileptic encephalopathy, 88 'developmental and epileptic encephalopathy, 88' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 88' SubClassOf 'developmental and epileptic encephalopathy' http://www.ebi.ac.uk/efo/EFO_1001947 childhood T acute lymphoblastic leukemia 'childhood T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' 'childhood T acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0030067 Treacher Collins syndrome 4 'Treacher Collins syndrome 4' SubClassOf 'Treacher-Collins syndrome' 'Treacher Collins syndrome 4' SubClassOf 'Treacher-Collins syndrome' http://purl.obolibrary.org/obo/MONDO_0030066 granulomatous disease, chronic, autosomal recessive, 5 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf 'chronic granulomatous disease' 'granulomatous disease, chronic, autosomal recessive, 5' SubClassOf 'chronic granulomatous disease' http://purl.obolibrary.org/obo/MONDO_0030062 arrhythmogenic right ventricular dysplasia, familial, 14 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' 'arrhythmogenic right ventricular dysplasia, familial, 14' SubClassOf 'familial isolated arrhythmogenic right ventricular dysplasia' http://purl.obolibrary.org/obo/MONDO_0030064 episodic ataxia, type 9 'episodic ataxia, type 9' SubClassOf 'hereditary episodic ataxia' 'episodic ataxia, type 9' SubClassOf 'hereditary episodic ataxia' http://purl.obolibrary.org/obo/MONDO_0019508 van der Woude syndrome 'van der Woude syndrome' SubClassOf 'syndromic disease' 'van der Woude syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040010 http://purl.obolibrary.org/obo/MONDO_0019503 anterior segment dysgenesis 'anterior segment dysgenesis' SubClassOf 'eye disease' 'anterior segment dysgenesis' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'autosomal recessive disease' 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome 'Usher syndrome' SubClassOf 'syndromic disease' 'Usher syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019517 Waardenburg syndrome type 2 'Waardenburg syndrome type 2' SubClassOf 'Waardenburg syndrome' 'Waardenburg syndrome type 2' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0020516 thymic neuroendocrine carcinoma 'thymic neuroendocrine carcinoma' SubClassOf 'Thymic Carcinoma' 'thymic neuroendocrine carcinoma' SubClassOf 'Thymic Carcinoma' http://purl.obolibrary.org/obo/MONDO_0020511 precursor B-cell acute lymphoblastic leukemia 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' 'precursor B-cell acute lymphoblastic leukemia' SubClassOf 'acute lymphoblastic leukemia' http://purl.obolibrary.org/obo/MONDO_0020507 leukoencephalopathy with vanishing white matter 1 'leukoencephalopathy with vanishing white matter 1' SubClassOf 'leukoencephalopathy with vanishing white matter' 'leukoencephalopathy with vanishing white matter 1' SubClassOf 'leukoencephalopathy with vanishing white matter' http://purl.obolibrary.org/obo/MONDO_0019524 Bartter syndrome type 4 'Bartter syndrome type 4' SubClassOf 'Bartter syndrome' 'Bartter syndrome type 4' SubClassOf 'Bartter syndrome' http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' http://purl.obolibrary.org/obo/MONDO_0020525 transient neonatal diabetes mellitus 'transient neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' 'transient neonatal diabetes mellitus' SubClassOf 'neonatal diabetes mellitus' http://purl.obolibrary.org/obo/MONDO_0020550 gestational choriocarcinoma 'gestational choriocarcinoma' SubClassOf 'gestational trophoblastic neoplasm' 'gestational choriocarcinoma' SubClassOf 'gestational trophoblastic neoplasm' http://purl.obolibrary.org/obo/MONDO_0019558 discoid lupus erythematosus 'discoid lupus erythematosus' SubClassOf 'chronic cutaneous lupus erythematosus' 'discoid lupus erythematosus' SubClassOf 'chronic cutaneous lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0019570 Cockayne syndrome type 2 'Cockayne syndrome type 2' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 2' SubClassOf 'Cockayne syndrome' http://purl.obolibrary.org/obo/MONDO_0019569 Cockayne syndrome type 1 'Cockayne syndrome type 1' SubClassOf 'Cockayne syndrome' 'Cockayne syndrome type 1' SubClassOf 'Cockayne syndrome' http://purl.obolibrary.org/obo/MONDO_0020547 chronic graft versus host disease 'chronic graft versus host disease' SubClassOf 'graft versus host disease' 'chronic graft versus host disease' SubClassOf 'graft versus host disease' http://purl.obolibrary.org/obo/MONDO_0020546 acute graft versus host disease 'acute graft versus host disease' SubClassOf 'graft versus host disease' 'acute graft versus host disease' SubClassOf 'graft versus host disease' http://purl.obolibrary.org/obo/MONDO_0020575 polymorphic ventricular tachycardia 'polymorphic ventricular tachycardia' SubClassOf 'ventricular tachycardia' 'polymorphic ventricular tachycardia' SubClassOf 'ventricular tachycardia' http://purl.obolibrary.org/obo/MONDO_0019572 autosomal recessive cutis laxa type 1 'autosomal recessive cutis laxa type 1' SubClassOf 'autosomal recessive disease' 'autosomal recessive cutis laxa type 1' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0019571 autosomal dominant cutis laxa 'autosomal dominant cutis laxa' SubClassOf 'autosomal dominant disease' 'autosomal dominant cutis laxa' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019587 autosomal dominant nonsyndromic hearing loss 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'autosomal dominant disease' 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'nonsyndromic genetic hearing loss' 'autosomal dominant nonsyndromic hearing loss' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0019586 X-linked nonsyndromic hearing loss 'X-linked nonsyndromic hearing loss' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'X-linked nonsyndromic hearing loss' SubClassOf 'postlingual non-syndromic genetic hearing loss' 'X-linked nonsyndromic hearing loss' SubClassOf 'nonsyndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019588 hearing loss, autosomal recessive 'hearing loss, autosomal recessive' SubClassOf 'prelingual non-syndromic genetic hearing loss' 'hearing loss, autosomal recessive' SubClassOf 'autosomal recessive disease' 'hearing loss, autosomal recessive' SubClassOf 'postlingual non-syndromic genetic hearing loss' 'hearing loss, autosomal recessive' SubClassOf 'autosomal recessive disease' 'hearing loss, autosomal recessive' SubClassOf 'nonsyndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_1030001 epilepsy, juvenile absence, susceptibility to 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'juvenile absence epilepsy') 'epilepsy, juvenile absence, susceptibility to' SubClassOf 'predisposes towards' some 'juvenile absence epilepsy' 'epilepsy, juvenile absence, susceptibility to' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'juvenile absence epilepsy' 'epilepsy, juvenile absence, susceptibility to' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'juvenile absence epilepsy') http://purl.obolibrary.org/obo/MONDO_0019408 Astley-Kendall dysplasia 'Astley-Kendall dysplasia' SubClassOf 'chondrodysplasia punctata' 'Astley-Kendall dysplasia' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0019409 idiopathic juvenile osteoporosis 'idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' 'idiopathic juvenile osteoporosis' SubClassOf 'osteoporosis' http://purl.obolibrary.org/obo/MONDO_0019411 genochondromatosis type 1 'genochondromatosis type 1' SubClassOf 'genochondromatosis' 'genochondromatosis type 1' SubClassOf 'genochondromatosis' http://purl.obolibrary.org/obo/MONDO_0019439 AA amyloidosis 'AA amyloidosis' SubClassOf 'amyloidosis' 'AA amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0019438 AL amyloidosis 'AL amyloidosis' SubClassOf 'amyloidosis' 'AL amyloidosis' SubClassOf 'amyloidosis' http://purl.obolibrary.org/obo/MONDO_0019441 ATTRV122I amyloidosis 'ATTRV122I amyloidosis' SubClassOf 'familial amyloid neuropathy' 'ATTRV122I amyloidosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971004 http://purl.obolibrary.org/obo/MONDO_0020458 hemolytic anemia due to erythrocyte adenosine deaminase overproduction 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'inborn disorder of purine metabolism' 'hemolytic anemia due to erythrocyte adenosine deaminase overproduction' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0019455 acute panmyelosis with myelofibrosis 'acute panmyelosis with myelofibrosis' SubClassOf 'acute myeloid leukemia by FAB classification' 'acute panmyelosis with myelofibrosis' SubClassOf 'acute myeloid leukemia by FAB classification' http://purl.obolibrary.org/obo/MONDO_0019456 acute myeloid leukemia with multilineage dysplasia 'acute myeloid leukemia with multilineage dysplasia' SubClassOf 'acute myeloid leukemia' 'acute myeloid leukemia with multilineage dysplasia' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0020473 dappled diaphyseal dysplasia 'dappled diaphyseal dysplasia' SubClassOf 'chondrodysplasia punctata' 'dappled diaphyseal dysplasia' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0019479 histiocytic sarcoma 'histiocytic sarcoma' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' 'histiocytic sarcoma' SubClassOf 'Histiocytic and Dendritic Cell Neoplasm' http://purl.obolibrary.org/obo/MONDO_0020466 monosomy X 'monosomy X' SubClassOf 'Turner syndrome' 'monosomy X' SubClassOf 'Turner syndrome' http://purl.obolibrary.org/obo/MONDO_0020460 acquired von willebrand syndrome 'acquired von willebrand syndrome' SubClassOf 'disease shares features of' some 'hereditary von Willebrand disease' 'acquired von willebrand syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'hereditary von Willebrand disease' http://purl.obolibrary.org/obo/MONDO_0020496 familial porencephaly 'familial porencephaly' SubClassOf 'porencephaly' 'familial porencephaly' SubClassOf 'porencephaly' http://purl.obolibrary.org/obo/MONDO_0020480 sulfite oxidase deficiency due to molybdenum cofactor deficiency 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' 'sulfite oxidase deficiency due to molybdenum cofactor deficiency' SubClassOf 'encephalopathy due to sulfite oxidase deficiency' http://purl.obolibrary.org/obo/MONDO_0020485 King-Denborough syndrome 'King-Denborough syndrome' SubClassOf 'disease shares features of' some 'Noonan syndrome' 'King-Denborough syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_shares_features_of some 'Noonan syndrome' http://purl.obolibrary.org/obo/MONDO_0020483 acetazolamide-responsive myotonia 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and ('disease responds to' some 'acetazolamide') 'acetazolamide-responsive myotonia' SubClassOf 'disease responds to' some 'acetazolamide' 'acetazolamide-responsive myotonia' SubClassOf 'potassium-aggravated myotonia' 'acetazolamide-responsive myotonia' EquivalentTo 'potassium-aggravated myotonia' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide') 'acetazolamide-responsive myotonia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_responds_to some 'acetazolamide' 'acetazolamide-responsive myotonia' SubClassOf 'potassium-aggravated myotonia' http://purl.obolibrary.org/obo/MONDO_0020482 myotonia permanens 'myotonia permanens' SubClassOf 'potassium-aggravated myotonia' 'myotonia permanens' SubClassOf 'potassium-aggravated myotonia' http://purl.obolibrary.org/obo/MONDO_0020481 myotonia fluctuans 'myotonia fluctuans' SubClassOf 'potassium-aggravated myotonia' 'myotonia fluctuans' SubClassOf 'potassium-aggravated myotonia' http://purl.obolibrary.org/obo/MONDO_0009903 postaxial acrofacial dysostosis 'postaxial acrofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'postaxial acrofacial dysostosis' SubClassOf 'syndromic disease' 'postaxial acrofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'postaxial acrofacial dysostosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009917 autosomal recessive pseudohypoaldosteronism type 1 'autosomal recessive pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' 'autosomal recessive pseudohypoaldosteronism type 1' SubClassOf 'pseudohypoaldosteronism type 1' http://purl.obolibrary.org/obo/MONDO_0010908 loose anagen syndrome 'loose anagen syndrome' SubClassOf 'alopecia' 'loose anagen syndrome' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0009910 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'progeria' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'progeria' 'Wiedemann-Rautenstrauch syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700276 http://purl.obolibrary.org/obo/MONDO_0009926 autosomal recessive multiple pterygium syndrome 'autosomal recessive multiple pterygium syndrome' SubClassOf 'multiple pterygium syndrome' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'multiple pterygium 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 'congenital fibrosis of extraocular muscles' 'fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement' SubClassOf 'congenital fibrosis of extraocular muscles' http://purl.obolibrary.org/obo/MONDO_0010924 D-2-hydroxyglutaric aciduria 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' 'D-2-hydroxyglutaric aciduria' SubClassOf '2-hydroxyglutaric aciduria' http://www.ebi.ac.uk/efo/EFO_1001834 pulmonary aspergillosis 'pulmonary aspergillosis' SubClassOf 'aspergillosis' 'pulmonary aspergillosis' SubClassOf 'aspergillosis' http://purl.obolibrary.org/obo/MONDO_0010939 low phospholipid associated cholelithiasis 'low phospholipid associated cholelithiasis' SubClassOf 'hereditary gallbladder disorder' 'low phospholipid associated cholelithiasis' SubClassOf 'hereditary gallbladder disorder' http://purl.obolibrary.org/obo/MONDO_0009947 glutathione synthetase deficiency with 5-oxoprolinuria 'glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' 'glutathione synthetase deficiency with 5-oxoprolinuria' SubClassOf 'inherited glutathione synthetase deficiency' http://purl.obolibrary.org/obo/MONDO_0009940 pycnodysostosis 'pycnodysostosis' SubClassOf 'lysosomal storage disease' 'pycnodysostosis' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0009958 adult Refsum disease 'adult Refsum disease' SubClassOf 'disease has major feature' some 'Leukoencephalopathy' 'adult Refsum disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Leukoencephalopathy' http://purl.obolibrary.org/obo/MONDO_0009953 leukocyte adhesion deficiency type II 'leukocyte adhesion deficiency type II' SubClassOf 'leukocyte adhesion deficiency' 'leukocyte adhesion deficiency type II' SubClassOf 'leukocyte adhesion deficiency' http://purl.obolibrary.org/obo/MONDO_0010946 hypertrophic cardiomyopathy 6 'hypertrophic cardiomyopathy 6' SubClassOf 'familial hypertrophic cardiomyopathy' 'hypertrophic cardiomyopathy 6' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0010940 inherited susceptibility to asthma 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'asthma') 'inherited susceptibility to asthma' SubClassOf 'predisposes towards' some 'asthma' 'inherited susceptibility to asthma' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'asthma' 'inherited susceptibility to asthma' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'asthma') http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome 'NPHP3-related Meckel-like syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'NPHP3-related Meckel-like syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0009965 Perlman syndrome 'Perlman syndrome' SubClassOf 'overgrowth syndrome' 'Perlman syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0010959 van den Ende-Gupta syndrome 'van den Ende-Gupta syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'van den Ende-Gupta syndrome' SubClassOf 'arthrogryposis multiplex congenita' http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis of genetic origin 'renal tubular dysgenesis of genetic origin' SubClassOf 'renal tubular dysgenesis' 'renal tubular dysgenesis of genetic origin' SubClassOf 'renal tubular dysgenesis' http://purl.obolibrary.org/obo/MONDO_0010976 epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive 'epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0010979 Timothy syndrome 'Timothy syndrome' SubClassOf 'familial long QT syndrome' 'Timothy syndrome' SubClassOf 'familial long QT syndrome' http://www.ebi.ac.uk/efo/EFO_0001416 cervical adenocarcinoma 'cervical adenocarcinoma' SubClassOf 'adenocarcinoma' 'cervical adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0019306 congenital non-bullous ichthyosiform erythroderma 'congenital non-bullous ichthyosiform erythroderma' SubClassOf 'autosomal recessive congenital ichthyosis' 'congenital non-bullous ichthyosiform erythroderma' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0009999 autosomal recessive Robinow syndrome 'autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' 'autosomal recessive Robinow syndrome' SubClassOf 'autosomal recessive disease' 'autosomal recessive Robinow syndrome' SubClassOf 'Robinow syndrome' 'autosomal recessive Robinow syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0010989 Mayer-Rokitansky-Küster-Hauser syndrome type 2 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' 'Mayer-Rokitansky-Küster-Hauser syndrome type 2' SubClassOf 'Mayer-Rokitansky-Kuster-Hauser syndrome' http://purl.obolibrary.org/obo/MONDO_0010997 supranuclear palsy, progressive, 1 'supranuclear palsy, progressive, 1' SubClassOf 'progressive supranuclear palsy' 'supranuclear palsy, progressive, 1' SubClassOf 'progressive supranuclear palsy' http://purl.obolibrary.org/obo/MONDO_0010998 ALG3-congenital disorder of glycosylation 'ALG3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'ALG3-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0019327 phakomatosis spilorosea 'phakomatosis spilorosea' SubClassOf 'phakomatosis pigmentovascularis' 'phakomatosis spilorosea' SubClassOf 'phakomatosis pigmentovascularis' http://purl.obolibrary.org/obo/MONDO_0044300 familial adenomatous polyposis 4 'familial adenomatous polyposis 4' SubClassOf 'classic familial adenomatous polyposis' 'familial adenomatous polyposis 4' SubClassOf 'classic familial adenomatous polyposis' http://purl.obolibrary.org/obo/MONDO_0020337 congenital dyserythropoietic anemia type 1 'congenital dyserythropoietic anemia type 1' SubClassOf 'congenital dyserythropoietic anemia' 'congenital dyserythropoietic anemia type 1' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0044313 intellectual disability, autosomal recessive 60 'intellectual disability, autosomal recessive 60' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 60' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome 'Sotos syndrome' SubClassOf 'syndromic disease' 'Sotos syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0044315 craniosynostosis 7 'craniosynostosis 7' SubClassOf 'predisposes towards' some 'craniosynostosis' 'craniosynostosis 7' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0019346 sialidosis type 1 'sialidosis type 1' SubClassOf 'sialidosis' 'sialidosis type 1' SubClassOf 'sialidosis' http://purl.obolibrary.org/obo/MONDO_0019342 Seckel syndrome 'Seckel syndrome' SubClassOf 'syndromic disease' 'Seckel syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension 'pulmonary arterial hypertension' SubClassOf 'pulmonary hypertension' 'pulmonary arterial hypertension' SubClassOf 'pulmonary hypertension' http://purl.obolibrary.org/obo/MONDO_0020359 congenital symblepharon 'congenital symblepharon' SubClassOf 'isolated cryptophthalmia' 'congenital symblepharon' SubClassOf 'isolated cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0019358 encephalopathy due to sulfite oxidase deficiency 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'inborn disorder of methionine cycle and sulfur amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019354 Stickler syndrome 'Stickler syndrome' SubClassOf 'syndromic disease' 'Stickler syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020341 periventricular nodular heterotopia 'periventricular nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' 'periventricular nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' http://www.ebi.ac.uk/efo/EFO_0001357 sporadic amyotrophic lateral sclerosis 'sporadic amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' 'sporadic amyotrophic lateral sclerosis' SubClassOf 'amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0020340 bilateral perisylvian polymicrogyria 'bilateral perisylvian polymicrogyria' SubClassOf 'bilateral polymicrogyria' 'bilateral perisylvian polymicrogyria' SubClassOf 'bilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0019362 epidemic louse-borne typhus 'epidemic louse-borne typhus' SubClassOf 'typhus' 'epidemic louse-borne typhus' SubClassOf 'typhus' http://purl.obolibrary.org/obo/MONDO_0020370 Cogan-Reese syndrome 'Cogan-Reese syndrome' SubClassOf 'iridocorneal endothelial syndrome' 'Cogan-Reese syndrome' SubClassOf 'iridocorneal endothelial syndrome' http://purl.obolibrary.org/obo/MONDO_0019375 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 'megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040002 http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia 'Fanconi anemia' SubClassOf 'dysostosis' 'Fanconi anemia' SubClassOf 'telomere syndrome' http://purl.obolibrary.org/obo/MONDO_0020364 posterior polymorphous corneal dystrophy 'posterior polymorphous corneal dystrophy' SubClassOf 'posterior corneal dystrophy' 'posterior polymorphous corneal dystrophy' SubClassOf 'posterior corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020363 honey-droplet corneal dystrophy 'honey-droplet corneal dystrophy' SubClassOf 'superficial corneal dystrophy' 'honey-droplet corneal dystrophy' SubClassOf 'superficial corneal dystrophy' http://purl.obolibrary.org/obo/MONDO_0020362 inverse Marcus-Gunn phenomenon 'inverse Marcus-Gunn phenomenon' SubClassOf 'jaw-winking syndrome' 'inverse Marcus-Gunn phenomenon' SubClassOf 'jaw-winking syndrome' http://purl.obolibrary.org/obo/MONDO_0020361 partial cryptophthalmia 'partial cryptophthalmia' SubClassOf 'isolated cryptophthalmia' 'partial cryptophthalmia' SubClassOf 'isolated cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0020360 complete cryptophthalmia 'complete cryptophthalmia' SubClassOf 'isolated cryptophthalmia' 'complete cryptophthalmia' SubClassOf 'isolated cryptophthalmia' http://purl.obolibrary.org/obo/MONDO_0020369 Chandler syndrome 'Chandler syndrome' SubClassOf 'iridocorneal endothelial syndrome' 'Chandler syndrome' SubClassOf 'iridocorneal endothelial syndrome' http://purl.obolibrary.org/obo/MONDO_0044325 Fanconi anemia, complementation group W 'Fanconi anemia, complementation group W' SubClassOf 'Fanconi anemia' 'Fanconi anemia, complementation group W' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0044327 polycystic liver disease 4 with or without kidney cysts 'polycystic liver disease 4 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' 'polycystic liver disease 4 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' http://purl.obolibrary.org/obo/MONDO_0020380 autosomal dominant cerebellar ataxia 'autosomal dominant cerebellar ataxia' SubClassOf 'disease has major feature' some 'dementia' 'autosomal dominant cerebellar ataxia' SubClassOf 'autosomal dominant disease' 'autosomal dominant cerebellar ataxia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' 'autosomal dominant cerebellar ataxia' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0020388 double outlet right ventricle with non-committed subpulmonary ventricular septal defect 'double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' 'double outlet right ventricle with non-committed subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' http://purl.obolibrary.org/obo/MONDO_0020387 double outlet right ventricle with subpulmonary ventricular septal defect 'double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' 'double outlet right ventricle with subpulmonary ventricular septal defect' SubClassOf 'double outlet right ventricle' http://www.ebi.ac.uk/efo/EFO_1001822 Paroxysmal Hemicrania 'Paroxysmal Hemicrania' SubClassOf 'trigeminal autonomic cephalalgia' 'Paroxysmal Hemicrania' SubClassOf 'trigeminal autonomic cephalalgia' http://purl.obolibrary.org/obo/GO_0003867 4-aminobutyrate transaminase activity '4-aminobutyrate transaminase activity' SubClassOf 'catalytic activity' '4-aminobutyrate transaminase activity' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CL_0000711 cumulus cell 'cumulus cell' SubClassOf 'secretory cell' 'cumulus cell' SubClassOf 'epithelial cell' 'cumulus cell' SubClassOf 'granulosa cell' http://purl.obolibrary.org/obo/MONDO_0001024 pneumonic plague 'pneumonic plague' SubClassOf 'lung disease' 'pneumonic plague' SubClassOf 'Yersinia pestis infectious disease' 'pneumonic plague' SubClassOf 'lung disease' 'pneumonic plague' SubClassOf 'Yersinia pestis infectious disease' http://purl.obolibrary.org/obo/MONDO_0001046 imperforate anus 'imperforate anus' SubClassOf 'anus disease' 'imperforate anus' SubClassOf 'anus disease' 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' 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Eosinophilia' http://purl.obolibrary.org/obo/MONDO_0015695 combined immunodeficiency due to CRAC channel dysfunction 'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'combined immunodeficiency' 'combined immunodeficiency due to CRAC channel dysfunction' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0001081 acute cervicitis 'acute cervicitis' SubClassOf 'cervicitis' 'acute cervicitis' SubClassOf 'cervicitis' http://purl.obolibrary.org/obo/MONDO_0001093 colonic lymphangioma 'colonic lymphangioma' SubClassOf 'epithelial tumor of colon' http://purl.obolibrary.org/obo/MONDO_0015705 autosomal recessive centronuclear myopathy 'autosomal recessive centronuclear myopathy' SubClassOf 'centronuclear myopathy' 'autosomal recessive centronuclear myopathy' SubClassOf 'centronuclear myopathy' http://www.ebi.ac.uk/efo/EFO_0006505 chronic bronchitis 'chronic bronchitis' SubClassOf 'bronchitis' 'chronic bronchitis' SubClassOf 'bronchitis' http://purl.obolibrary.org/obo/MONDO_0015739 adult-onset nemaline myopathy 'adult-onset nemaline myopathy' SubClassOf 'nemaline myopathy' 'adult-onset nemaline myopathy' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0015737 typical nemaline myopathy 'typical nemaline myopathy' SubClassOf 'nemaline myopathy' 'typical nemaline myopathy' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0015735 severe congenital nemaline myopathy 'severe congenital nemaline myopathy' SubClassOf 'nemaline myopathy' 'severe congenital nemaline myopathy' SubClassOf 'nemaline myopathy' http://www.ebi.ac.uk/efo/EFO_0006544 bladder transitional cell carcinoma 'bladder transitional cell carcinoma' SubClassOf 'urothelial carcinoma' 'bladder transitional cell carcinoma' SubClassOf 'urothelial carcinoma' http://purl.obolibrary.org/obo/MONDO_0001112 bubonic plague 'bubonic plague' SubClassOf 'Yersinia pestis infectious disease' 'bubonic plague' SubClassOf 'Yersinia pestis infectious disease' http://purl.obolibrary.org/obo/MONDO_0001123 chronic sphenoidal sinusitis 'chronic sphenoidal sinusitis' SubClassOf 'chronic rhinosinusitis' 'chronic sphenoidal sinusitis' SubClassOf 'chronic rhinosinusitis' http://purl.obolibrary.org/obo/MONDO_0001122 chronic maxillary sinusitis 'chronic maxillary sinusitis' SubClassOf 'chronic rhinosinusitis' 'chronic maxillary sinusitis' SubClassOf 'chronic rhinosinusitis' http://purl.obolibrary.org/obo/MONDO_0015762 progressive familial intrahepatic cholestasis 'progressive familial intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' 'progressive familial intrahepatic cholestasis' SubClassOf 'inborn disorder of bilirubin metabolism' http://purl.obolibrary.org/obo/MONDO_0015760 T-cell non-Hodgkin lymphoma 'T-cell non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' 'T-cell non-Hodgkin lymphoma' SubClassOf 'non-Hodgkins lymphoma' http://www.ebi.ac.uk/efo/EFO_0006475 plasma cell leukemia 'plasma cell leukemia' SubClassOf 'plasma cell neoplasm' 'plasma cell leukemia' SubClassOf 'plasma cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0040500 glycosylphosphatidylinositol biosynthesis defect 16 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'glycosylphosphatidylinositol biosynthesis defect 16' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0006462 ovarian mucinous adenocarcinoma 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' 'ovarian mucinous adenocarcinoma' SubClassOf 'mucinous carcinoma' http://purl.obolibrary.org/obo/MONDO_0015550 suprabasal epidermolysis bullosa simplex 'suprabasal epidermolysis bullosa simplex' SubClassOf 'epidermolysis bullosa simplex' 'suprabasal epidermolysis bullosa simplex' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0015566 2q24 microdeletion syndrome '2q24 microdeletion syndrome' SubClassOf 'disease has major feature' some 'cataract' '2q24 microdeletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'cataract' http://purl.obolibrary.org/obo/MONDO_0015574 chronic cutaneous lupus erythematosus 'chronic cutaneous lupus erythematosus' SubClassOf 'cutaneous lupus erythematosus' 'chronic cutaneous lupus erythematosus' SubClassOf 'cutaneous lupus erythematosus' http://purl.obolibrary.org/obo/CL_0000065 ependymal cell 'ependymal cell' SubClassOf 'glial cell' http://purl.obolibrary.org/obo/MONDO_0015601 X-linked intellectual disability, van Esch type 'X-linked intellectual disability, van Esch type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked intellectual disability, van Esch type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015627 multiple epiphyseal dysplasia due to collagen 9 anomaly 'multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'multiple epiphyseal dysplasia' 'multiple epiphyseal dysplasia due to collagen 9 anomaly' SubClassOf 'multiple epiphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015429 choroideremia-hypopituitarism syndrome 'choroideremia-hypopituitarism syndrome' SubClassOf 'inherited retinal dystrophy' 'choroideremia-hypopituitarism syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015455 gonococcal conjunctivitis 'gonococcal conjunctivitis' SubClassOf 'bacterial conjunctivitis' 'gonococcal conjunctivitis' SubClassOf 'bacterial conjunctivitis' http://purl.obolibrary.org/obo/MONDO_0015454 multiple carboxylase deficiency 'multiple carboxylase deficiency' SubClassOf 'classic organic aciduria' 'multiple carboxylase deficiency' SubClassOf 'classic organic aciduria' http://purl.obolibrary.org/obo/MONDO_0015466 cranio-osteoarthropathy 'cranio-osteoarthropathy' SubClassOf 'primary hypertrophic osteoarthropathy' 'cranio-osteoarthropathy' SubClassOf 'primary hypertrophic osteoarthropathy' http://www.ebi.ac.uk/efo/EFO_0006718 ovarian leiomyosarcoma 'ovarian leiomyosarcoma' SubClassOf 'leiomyosarcoma' 'ovarian leiomyosarcoma' SubClassOf 'leiomyosarcoma' http://purl.obolibrary.org/obo/MONDO_0015515 carnitine palmitoyltransferase II deficiency 'carnitine palmitoyltransferase II deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' 'carnitine palmitoyltransferase II deficiency' SubClassOf 'disorder of carnitine cycle and carnitine transport' http://purl.obolibrary.org/obo/MONDO_0015523 epithelioid hemangioendothelioma 'epithelioid hemangioendothelioma' SubClassOf 'vascular cancer' 'epithelioid hemangioendothelioma' SubClassOf 'vascular cancer' http://purl.obolibrary.org/obo/MONDO_0015526 cold-induced sweating syndrome 'cold-induced sweating syndrome' SubClassOf 'disease has major feature' some 'Cold-induced sweating' 'cold-induced sweating syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cold-induced sweating' http://purl.obolibrary.org/obo/MONDO_0030931 proteasome-associated autoinflammatory syndrome 4 'proteasome-associated autoinflammatory syndrome 4' SubClassOf 'proteosome-associated autoinflammatory syndrome' 'proteasome-associated autoinflammatory syndrome 4' SubClassOf 'proteosome-associated autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0030938 spermatogenic failure 52 'spermatogenic failure 52' SubClassOf 'azoospermia' 'spermatogenic failure 52' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030924 proteasome-associated autoinflammatory syndrome 5 'proteasome-associated autoinflammatory syndrome 5' SubClassOf 'proteosome-associated autoinflammatory syndrome' 'proteasome-associated autoinflammatory syndrome 5' SubClassOf 'proteosome-associated autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0030926 spermatogenic failure 51 'spermatogenic failure 51' SubClassOf 'azoospermia' 'spermatogenic failure 51' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030927 myofibrillar myopathy 11 'myofibrillar myopathy 11' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 11' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0015307 Madras motor neuron disease 'Madras motor neuron disease' SubClassOf 'motor neuron disease' 'Madras motor neuron disease' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0030957 developmental and epileptic encephalopathy 103 'developmental and epileptic encephalopathy 103' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 103' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030977 neuronopathy, distal hereditary motor, autosomal recessive 7 'neuronopathy, distal hereditary motor, autosomal recessive 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' 'neuronopathy, distal hereditary motor, autosomal recessive 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0030979 endove syndrome, limb-brain type 'endove syndrome, limb-brain type' SubClassOf 'genetic disorder' 'endove syndrome, limb-brain type' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040032 http://purl.obolibrary.org/obo/MONDO_0015339 adrenomyeloneuropathy 'adrenomyeloneuropathy' SubClassOf 'adrenoleukodystrophy' 'adrenomyeloneuropathy' SubClassOf 'adrenoleukodystrophy' http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome 'hereditary neoplastic syndrome' SubClassOf 'predisposes towards' some 'neoplasm' 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'neoplasm') 'hereditary neoplastic syndrome' EquivalentTo 'inherited disease susceptibility' and (http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neoplasm') 'hereditary neoplastic syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0015355 distal hereditary motor neuropathy type 7 'distal hereditary motor neuropathy type 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'distal hereditary motor neuropathy type 7' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0015352 distal hereditary motor neuropathy type 2 'distal hereditary motor neuropathy type 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' 'distal hereditary motor neuropathy type 2' SubClassOf 'neuronopathy, distal hereditary motor, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0030989 spermatogenic failure 53 'spermatogenic failure 53' SubClassOf 'azoospermia' 'spermatogenic failure 53' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0015367 Charlie M syndrome 'Charlie M syndrome' SubClassOf 'oromandibular-limb hypogenesis syndrome' 'Charlie M syndrome' SubClassOf 'oromandibular-limb hypogenesis syndrome' http://purl.obolibrary.org/obo/MONDO_0015363 neuronopathy, distal hereditary motor, autosomal recessive 'neuronopathy, distal hereditary motor, autosomal recessive' SubClassOf 'autosomal recessive disease' 'neuronopathy, distal hereditary motor, autosomal recessive' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0015375 orofaciodigital syndrome 'orofaciodigital syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' 'orofaciodigital syndrome' SubClassOf 'oromandibular-limb anomalies syndrome' http://purl.obolibrary.org/obo/MONDO_0015399 glossopalatine ankylosis 'glossopalatine ankylosis' SubClassOf 'oromandibular-limb hypogenesis syndrome' 'glossopalatine ankylosis' SubClassOf 'oromandibular-limb hypogenesis syndrome' http://purl.obolibrary.org/obo/MONDO_0015204 microlissencephaly 'microlissencephaly' SubClassOf 'lissencephaly spectrum disorders' 'microlissencephaly' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0015205 isolated lissencephaly type 1 without known genetic defects 'isolated lissencephaly type 1 without known genetic defects' SubClassOf 'classic lissencephaly' 'isolated lissencephaly type 1 without known genetic defects' SubClassOf 'classic lissencephaly' http://purl.obolibrary.org/obo/MONDO_0030856 developmental and epileptic encephalopathy 89 'developmental and epileptic encephalopathy 89' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 89' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030844 spermatogenic failure 47 'spermatogenic failure 47' SubClassOf 'azoospermia' 'spermatogenic failure 47' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054833 charcot-marie-tooth disease, axonal, type 2DD 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'autosomal dominant disease' 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'Charcot-Marie-Tooth disease type 2' 'charcot-marie-tooth disease, axonal, type 2DD' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0030846 spermatogenic failure 48 'spermatogenic failure 48' SubClassOf 'azoospermia' 'spermatogenic failure 48' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054835 classic dopamine transporter deficiency syndrome 'classic dopamine transporter deficiency syndrome' SubClassOf 'SLC6A3-related dopamine transporter deficiency syndrome' 'classic dopamine transporter deficiency syndrome' SubClassOf 'SLC6A3-related dopamine transporter deficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'syndromic disease' 'Bardet-Biedl syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0054801 erythrocytosis, familial, 6 'erythrocytosis, familial, 6' SubClassOf 'familial polycythemia' 'erythrocytosis, familial, 6' SubClassOf 'familial polycythemia' http://purl.obolibrary.org/obo/MONDO_0030869 spermatogenic failures 50 'spermatogenic failures 50' SubClassOf 'azoospermia' 'spermatogenic failures 50' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030868 spermatogenic failure 49 'spermatogenic failure 49' SubClassOf 'azoospermia' 'spermatogenic failure 49' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054813 Ehlers-Danlos syndrome, classic-like, 2 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'autosomal recessive disease' 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'Ehlers-Danlos syndrome' 'Ehlers-Danlos syndrome, classic-like, 2' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0054817 leukodystrophy, hypomyelinating, 17 'leukodystrophy, hypomyelinating, 17' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 17' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0015240 digitotalar dysmorphism 'digitotalar dysmorphism' SubClassOf 'distal arthrogryposis' 'digitotalar dysmorphism' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0030861 osteogenesis imperfecta, type 21 'osteogenesis imperfecta, type 21' SubClassOf 'osteogenesis imperfecta' 'osteogenesis imperfecta, type 21' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0015244 autosomal recessive cerebellar ataxia 'autosomal recessive cerebellar ataxia' SubClassOf 'autosomal recessive disease' 'autosomal recessive cerebellar ataxia' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0030899 oculocutaneous albinism type 8 'oculocutaneous albinism type 8' SubClassOf 'oculocutaneous albinism' 'oculocutaneous albinism type 8' SubClassOf 'oculocutaneous albinism' http://purl.obolibrary.org/obo/MONDO_0030895 nephrotic syndrome, type 22 'nephrotic syndrome, type 22' SubClassOf 'familial nephrotic syndrome' 'nephrotic syndrome, type 22' SubClassOf 'familial nephrotic syndrome' http://purl.obolibrary.org/obo/MONDO_0015253 Diamond-Blackfan anemia 'Diamond-Blackfan anemia' SubClassOf 'pure red-cell aplasia' 'Diamond-Blackfan anemia' SubClassOf 'pure red-cell aplasia' http://purl.obolibrary.org/obo/MONDO_0054860 hearing loss, autosomal recessive 110 'hearing loss, autosomal recessive 110' SubClassOf 'hearing loss, autosomal recessive' 'hearing loss, autosomal recessive 110' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0015267 Feingold syndrome 'Feingold syndrome' SubClassOf 'syndromic disease' 'Feingold syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0015262 brachyolmia 'brachyolmia' SubClassOf 'spondylodysplastic dysplasia' 'brachyolmia' SubClassOf 'spondylodysplastic dysplasia' http://purl.obolibrary.org/obo/MONDO_0054845 developmental and epileptic encephalopathy, 66 'developmental and epileptic encephalopathy, 66' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 66' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0054843 ciliary dyskinesia, primary, 38 'ciliary dyskinesia, primary, 38' SubClassOf 'primary ciliary dyskinesia' 'ciliary dyskinesia, primary, 38' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0054842 polycystic kidney disease 6 with or without polycystic liver disease 'polycystic kidney disease 6 with or without polycystic liver disease' SubClassOf 'Autosomal dominant polycystic kidney disease' 'polycystic kidney disease 6 with or without polycystic liver disease' SubClassOf 'Autosomal dominant polycystic kidney disease' http://purl.obolibrary.org/obo/MONDO_0015289 infectious epithelial keratitis 'infectious epithelial keratitis' SubClassOf 'corneal infection' 'infectious epithelial keratitis' SubClassOf 'corneal infection' http://purl.obolibrary.org/obo/MONDO_0015282 cardiomyopathy-cataract-hip spine disease syndrome 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'articular cartilage disorder' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Dilated cardiomyopathy' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf 'disease has major feature' some 'Cataract' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Cataract' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'articular cartilage disorder' 'cardiomyopathy-cataract-hip spine disease syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0054852 peeling skin syndrome 6 'peeling skin syndrome 6' SubClassOf 'peeling skin syndrome' 'peeling skin syndrome 6' SubClassOf 'peeling skin syndrome' http://purl.obolibrary.org/obo/MONDO_0054701 Kleefstra syndrome 2 'Kleefstra syndrome 2' SubClassOf 'Kleefstra syndrome' 'Kleefstra syndrome 2' SubClassOf 'Kleefstra syndrome' http://purl.obolibrary.org/obo/MONDO_0054700 proteasome-associated autoinflammatory syndrome 2 'proteasome-associated autoinflammatory syndrome 2' SubClassOf 'proteosome-associated autoinflammatory syndrome' 'proteasome-associated autoinflammatory syndrome 2' SubClassOf 'proteosome-associated autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0005784 hantavirus hemorrhagic fever with renal syndrome 'hantavirus hemorrhagic fever with renal syndrome' SubClassOf 'kidney disease' 'hantavirus hemorrhagic fever with renal syndrome' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0030727 developmental and epileptic encephalopathy 101 'developmental and epileptic encephalopathy 101' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 101' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015101 Marin-Amat syndrome 'Marin-Amat syndrome' SubClassOf 'jaw-winking syndrome' 'Marin-Amat syndrome' SubClassOf 'jaw-winking syndrome' http://purl.obolibrary.org/obo/MONDO_0054743 polycystic liver disease 3 with or without kidney cysts 'polycystic liver disease 3 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' 'polycystic liver disease 3 with or without kidney cysts' SubClassOf 'autosomal dominant polycystic liver disease' http://purl.obolibrary.org/obo/MONDO_0054748 Fanconi anemia, complementation group S 'Fanconi anemia, complementation group S' SubClassOf 'Fanconi anemia' 'Fanconi anemia, complementation group S' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0054742 combined oxidative phosphorylation deficiency 35 'combined oxidative phosphorylation deficiency 35' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 35' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0054741 combined oxidative phosphorylation deficiency 34 'combined oxidative phosphorylation deficiency 34' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 34' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf 'predisposes towards' some 'Mendelian encephalopathy' 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015148 lissencephaly type 3 'lissencephaly type 3' SubClassOf 'lissencephaly spectrum disorders' 'lissencephaly type 3' SubClassOf 'lissencephaly spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0015140 early-onset autosomal dominant Alzheimer disease 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'hereditary dementia' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'disease has major feature' some 'dementia' 'early-onset autosomal dominant Alzheimer disease' SubClassOf 'inherited neurodegenerative disorder' 'early-onset autosomal dominant Alzheimer disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'dementia' http://purl.obolibrary.org/obo/MONDO_0054750 amyotrophic lateral sclerosis, susceptibility to, 24 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'predisposes towards' some 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0054724 spermatogenic failure 20 'spermatogenic failure 20' SubClassOf 'azoospermia' 'spermatogenic failure 20' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054723 spermatogenic failure 19 'spermatogenic failure 19' SubClassOf 'azoospermia' 'spermatogenic failure 19' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054728 spermatogenic failure 24 'spermatogenic failure 24' SubClassOf 'azoospermia' 'spermatogenic failure 24' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054727 spermatogenic failure 23 'spermatogenic failure 23' SubClassOf 'azoospermia' 'spermatogenic failure 23' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054726 spermatogenic failure 22 'spermatogenic failure 22' SubClassOf 'azoospermia' 'spermatogenic failure 22' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054729 spermatogenic failure 25 'spermatogenic failure 25' SubClassOf 'azoospermia' 'spermatogenic failure 25' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'autosomal recessive disease' 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'limb-girdle muscular dystrophy' 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'autosomal recessive disease' 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0015151 muscular dystrophy, limb-girdle, autosomal dominant 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'limb-girdle muscular dystrophy' 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'autosomal dominant disease' 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'limb-girdle muscular dystrophy' 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0054733 spermatogenic failure 29 'spermatogenic failure 29' SubClassOf 'azoospermia' 'spermatogenic failure 29' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054732 spermatogenic failure 28 'spermatogenic failure 28' SubClassOf 'azoospermia' 'spermatogenic failure 28' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030785 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly 'intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015169 chronic diarrhea due to glucoamylase deficiency 'chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' 'chronic diarrhea due to glucoamylase deficiency' SubClassOf 'disorder of carbohydrate transmembrane transport and absorption' http://purl.obolibrary.org/obo/MONDO_0015168 arthrogryposis multiplex congenita 'arthrogryposis multiplex congenita' SubClassOf 'arthrogryposis syndrome' 'arthrogryposis multiplex congenita' SubClassOf 'arthrogryposis syndrome' http://purl.obolibrary.org/obo/MONDO_0030781 restrictive dermopathy 2 'restrictive dermopathy 2' SubClassOf 'restrictive dermopathy' 'restrictive dermopathy 2' SubClassOf 'restrictive dermopathy' http://purl.obolibrary.org/obo/MONDO_0054731 spermatogenic failure 27 'spermatogenic failure 27' SubClassOf 'azoospermia' 'spermatogenic failure 27' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054782 leukodystrophy, hypomyelinating, 15 'leukodystrophy, hypomyelinating, 15' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 15' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0054781 combined oxidative phosphorylation deficiency 36 'combined oxidative phosphorylation deficiency 36' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 36' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0054785 multiple mitochondrial dysfunctions syndrome 6 'multiple mitochondrial dysfunctions syndrome 6' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' 'multiple mitochondrial dysfunctions syndrome 6' SubClassOf 'fatal multiple mitochondrial dysfunctions syndrome' http://purl.obolibrary.org/obo/MONDO_0015183 short bowel syndrome 'short bowel syndrome' SubClassOf 'intestinal disease' 'short bowel syndrome' SubClassOf 'intestinal disease' http://purl.obolibrary.org/obo/MONDO_0054794 hydrocephalus, congenital, 3, with brain anomalies 'hydrocephalus, congenital, 3, with brain anomalies' SubClassOf 'congenital hydrocephalus' 'hydrocephalus, congenital, 3, with brain anomalies' SubClassOf 'congenital hydrocephalus' http://www.ebi.ac.uk/efo/EFO_0006803 vasculitis 'vasculitis' SubClassOf 'vascular disease' 'vasculitis' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0006859 head and neck malignant neoplasia 'head and neck malignant neoplasia' SubClassOf 'cancer' 'head and neck malignant neoplasia' SubClassOf 'cancer' http://purl.obolibrary.org/obo/MONDO_0015006 epidermolysis bullosa simplex 6, generalized, with scarring and hair loss 'epidermolysis bullosa simplex 6, generalized, with scarring and hair loss' SubClassOf 'epidermolysis bullosa simplex' 'epidermolysis bullosa simplex 6, generalized, with scarring and hair loss' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0015000 developmental and epileptic encephalopathy, 48 'developmental and epileptic encephalopathy, 48' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 48' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015010 atypical glycine encephalopathy 'atypical glycine encephalopathy' SubClassOf 'glycine encephalopathy' 'atypical glycine encephalopathy' SubClassOf 'glycine encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015027 familial isolated hyperparathyroidism 'familial isolated hyperparathyroidism' SubClassOf 'familial primary hyperparathyroidism' 'familial isolated hyperparathyroidism' SubClassOf 'familial primary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0015025 developmental and epileptic encephalopathy, 51 'developmental and epileptic encephalopathy, 51' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 51' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015020 intellectual disability, autosomal recessive 59 'intellectual disability, autosomal recessive 59' SubClassOf 'autosomal recessive non-syndromic intellectual disability' 'intellectual disability, autosomal recessive 59' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015039 lissencephaly with cerebellar hypoplasia type F 'lissencephaly with cerebellar hypoplasia type F' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type F' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015038 lissencephaly with cerebellar hypoplasia type E 'lissencephaly with cerebellar hypoplasia type E' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type E' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015037 lissencephaly with cerebellar hypoplasia type D 'lissencephaly with cerebellar hypoplasia type D' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type D' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015036 lissencephaly with cerebellar hypoplasia type C 'lissencephaly with cerebellar hypoplasia type C' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type C' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0030674 Teebi hypertelorism syndrome 2 'Teebi hypertelorism syndrome 2' SubClassOf 'Teebi hypertelorism syndrome' 'Teebi hypertelorism syndrome 2' SubClassOf 'Teebi hypertelorism syndrome' http://purl.obolibrary.org/obo/MONDO_0015035 lissencephaly with cerebellar hypoplasia type B 'lissencephaly with cerebellar hypoplasia type B' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type B' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015034 lissencephaly with cerebellar hypoplasia type A 'lissencephaly with cerebellar hypoplasia type A' SubClassOf 'lissencephaly with cerebellar hypoplasia' 'lissencephaly with cerebellar hypoplasia type A' SubClassOf 'lissencephaly with cerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0015032 intraneural perineurioma 'intraneural perineurioma' SubClassOf 'perineurioma' 'intraneural perineurioma' SubClassOf 'perineurioma' http://purl.obolibrary.org/obo/MONDO_0054615 spermatogenic failure 18 'spermatogenic failure 18' SubClassOf 'azoospermia' 'spermatogenic failure 18' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030695 developmental and epileptic encephalopathy 100 'developmental and epileptic encephalopathy 100' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy 100' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015069 neuroendocrine tumor of the anal canal 'neuroendocrine tumor of the anal canal' SubClassOf 'anal canal neuroendocrine neoplasm' 'neuroendocrine tumor of the anal canal' SubClassOf 'anal canal neuroendocrine neoplasm' http://purl.obolibrary.org/obo/MONDO_0015064 jejunal neuroendocrine tumor, well differentiated, low or intermediate grade 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'jejunal neoplasm' 'jejunal neuroendocrine tumor, well differentiated, low or intermediate grade' SubClassOf 'jejunal neoplasm' 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 'carcinoma of liver and intrahepatic biliary tract' http://purl.obolibrary.org/obo/MONDO_0015093 sub-cortical nodular heterotopia 'sub-cortical nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' 'sub-cortical nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' http://purl.obolibrary.org/obo/MONDO_0015085 bathing suit ichthyosis 'bathing suit ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis' 'bathing suit ichthyosis' SubClassOf 'autosomal recessive congenital ichthyosis' http://purl.obolibrary.org/obo/MONDO_0015094 subependymal nodular heterotopia 'subependymal nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' 'subependymal nodular heterotopia' SubClassOf 'nodular neuronal heterotopia' http://purl.obolibrary.org/obo/MONDO_0015099 unilateral hemispheric polymicrogyria 'unilateral hemispheric polymicrogyria' SubClassOf 'unilateral polymicrogyria' 'unilateral hemispheric polymicrogyria' SubClassOf 'unilateral polymicrogyria' http://purl.obolibrary.org/obo/MONDO_0054699 proteasome-associated autoinflammatory syndrome 3 'proteasome-associated autoinflammatory syndrome 3' SubClassOf 'proteosome-associated autoinflammatory syndrome' 'proteasome-associated autoinflammatory syndrome 3' SubClassOf 'proteosome-associated autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0054691 immunodeficiency, common variable, 14 'immunodeficiency, common variable, 14' SubClassOf 'common variable immunodeficiency' 'immunodeficiency, common variable, 14' SubClassOf 'common variable immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0030515 spermatogenic failure 63 'spermatogenic failure 63' SubClassOf 'azoospermia' 'spermatogenic failure 63' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy 'leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0030500 Loeys-Dietz syndrome 6 'Loeys-Dietz syndrome 6' SubClassOf 'Loeys-Dietz syndrome' 'Loeys-Dietz syndrome 6' SubClassOf 'Loeys-Dietz syndrome' http://purl.obolibrary.org/obo/MONDO_0030507 spermatogenic failure 61 'spermatogenic failure 61' SubClassOf 'azoospermia' 'spermatogenic failure 61' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030531 spermatogenic failure 65 'spermatogenic failure 65' SubClassOf 'azoospermia' 'spermatogenic failure 65' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030522 spermatogenic failure 64 'spermatogenic failure 64' SubClassOf 'azoospermia' 'spermatogenic failure 64' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030529 agammaglobulinemia 10, autosomal dominant 'agammaglobulinemia 10, autosomal dominant' SubClassOf 'agammaglobulinemia' 'agammaglobulinemia 10, autosomal dominant' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0030543 combined oxidative phosphorylation deficiency 54 'combined oxidative phosphorylation deficiency 54' SubClassOf 'combined oxidative phosphorylation deficiency' 'combined oxidative phosphorylation deficiency 54' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0054559 congenital disorder of glycosylation, type IIq 'congenital disorder of glycosylation, type IIq' SubClassOf 'congenital disorder of glycosylation type II' 'congenital disorder of glycosylation, type IIq' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0011291 ALG6-congenital disorder of glycosylation 1C 'ALG6-congenital disorder of glycosylation 1C' SubClassOf 'congenital disorder of glycosylation type I' 'ALG6-congenital disorder of glycosylation 1C' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0011292 dermatitis, atopic 'dermatitis, atopic' SubClassOf 'atopic eczema' http://purl.obolibrary.org/obo/MONDO_0001907 adult dermatomyositis 'adult dermatomyositis' SubClassOf 'dermatomyositis' 'adult dermatomyositis' SubClassOf 'dermatomyositis' 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') 'blindness (disorder)' EquivalentTo 'vision disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Blindness') 'blindness (disorder)' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Blindness' http://purl.obolibrary.org/obo/MONDO_0001949 acute thyroiditis 'acute thyroiditis' SubClassOf 'thyroiditis' 'acute thyroiditis' SubClassOf 'thyroiditis' http://purl.obolibrary.org/obo/MONDO_0011309 familial gestational hyperthyroidism 'familial gestational hyperthyroidism' SubClassOf 'hyperthyroidism' 'familial gestational hyperthyroidism' SubClassOf 'hyperthyroidism' 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 'cardiac germ cell tumor' 'malignant cardiac germ cell tumor' SubClassOf 'extragonadal germ cell cancer' 'malignant cardiac germ cell tumor' SubClassOf 'cardiac germ cell tumor' http://purl.obolibrary.org/obo/GO_0042403 thyroid hormone metabolic process 'thyroid hormone metabolic process' SubClassOf 'organonitrogen compound metabolic process' http://purl.obolibrary.org/obo/MONDO_0011334 limb-mammary syndrome 'limb-mammary syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'limb-mammary syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011335 spondyloepimetaphyseal dysplasia with multiple dislocations 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' 'spondyloepimetaphyseal dysplasia with multiple dislocations' SubClassOf 'spondyloepimetaphyseal dysplasia with joint laxity' http://purl.obolibrary.org/obo/MONDO_0011342 SLC35A1-congenital disorder of glycosylation 'SLC35A1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' 'SLC35A1-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/GO_0042423 catecholamine biosynthetic process 'catecholamine biosynthetic process' SubClassOf 'organonitrogen compound biosynthetic process' 'catecholamine biosynthetic process' SubClassOf 'biosynthetic process' http://purl.obolibrary.org/obo/MONDO_0011346 xanthinuria type II 'xanthinuria type II' SubClassOf 'hereditary xanthinuria' 'xanthinuria type II' SubClassOf 'hereditary xanthinuria' http://purl.obolibrary.org/obo/MONDO_0011369 hypercholesterolemia, autosomal dominant, 3 'hypercholesterolemia, autosomal dominant, 3' SubClassOf 'familial hypercholesterolemia' 'hypercholesterolemia, autosomal dominant, 3' SubClassOf 'familial hypercholesterolemia' http://purl.obolibrary.org/obo/MONDO_0011370 Stargardt disease 4 'Stargardt disease 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040053 http://purl.obolibrary.org/obo/MONDO_0011381 dominant beta-thalassemia 'dominant beta-thalassemia' SubClassOf 'beta thalassemia' 'dominant beta-thalassemia' SubClassOf 'beta thalassemia' http://purl.obolibrary.org/obo/MONDO_0011395 cone-rod dystrophy 3 'cone-rod dystrophy 3' SubClassOf 'cone-rod dystrophy' 'cone-rod dystrophy 3' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0011391 megalencephalic leukoencephalopathy with subcortical cysts 'megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukodystrophy' 'megalencephalic leukoencephalopathy with subcortical cysts' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0011171 odonto-tricho-ungual-digito-palmar syndrome 'odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'odonto-tricho-ungual-digito-palmar syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011173 thrombocythemia 2 'thrombocythemia 2' SubClassOf 'familial thrombocytosis' 'thrombocythemia 2' SubClassOf 'familial thrombocytosis' http://purl.obolibrary.org/obo/MONDO_0011198 spondyloepimetaphyseal dysplasia, Missouri type 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepimetaphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepimetaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011197 hereditary thermosensitive neuropathy 'hereditary thermosensitive neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' 'hereditary thermosensitive neuropathy' SubClassOf 'hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011190 nephronophthisis 2 'nephronophthisis 2' SubClassOf 'nephronophthisis' 'nephronophthisis 2' SubClassOf 'nephronophthisis' http://purl.obolibrary.org/obo/MONDO_0011193 cone dystrophy 3 'cone dystrophy 3' SubClassOf 'cone-rod dystrophy' 'cone dystrophy 3' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0001838 acute gonococcal prostatitis 'acute gonococcal prostatitis' SubClassOf 'gonococcal prostatitis' 'acute gonococcal prostatitis' SubClassOf 'gonococcal prostatitis' http://purl.obolibrary.org/obo/MONDO_0001884 abducens nerve neoplasm 'abducens nerve neoplasm' SubClassOf 'abducens nerve disorder' 'abducens nerve neoplasm' SubClassOf 'abducens nerve disorder' http://purl.obolibrary.org/obo/MONDO_0011219 Fried's tooth and nail syndrome 'Fried's tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'Fried's tooth and nail syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011211 axial spondylometaphyseal dysplasia 'axial spondylometaphyseal dysplasia' SubClassOf 'spondylometaphyseal dysplasia' 'axial spondylometaphyseal dysplasia' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0011214 progressive familial intrahepatic cholestasis type 3 'progressive familial intrahepatic cholestasis type 3' SubClassOf 'progressive familial intrahepatic cholestasis' 'progressive familial intrahepatic cholestasis type 3' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0011231 febrile seizures, familial, 2 'febrile seizures, familial, 2' SubClassOf 'febrile seizures, familial' 'febrile seizures, familial, 2' SubClassOf 'febrile seizures, familial' http://purl.obolibrary.org/obo/MONDO_0011244 Marshall-Smith syndrome 'Marshall-Smith syndrome' SubClassOf 'overgrowth syndrome' 'Marshall-Smith syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0011240 megalencephaly-capillary malformation-polymicrogyria syndrome 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1040002 http://purl.obolibrary.org/obo/MONDO_0011257 MPI-congenital disorder of glycosylation 'MPI-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' 'MPI-congenital disorder of glycosylation' SubClassOf 'congenital disorder of glycosylation type I' http://purl.obolibrary.org/obo/MONDO_0011264 torsion dystonia 6 'torsion dystonia 6' SubClassOf 'generalized dystonia' 'torsion dystonia 6' SubClassOf 'generalized dystonia' http://purl.obolibrary.org/obo/MONDO_0011266 myotonic dystrophy type 2 'myotonic dystrophy type 2' SubClassOf 'myotonic dystrophy' 'myotonic dystrophy type 2' SubClassOf 'myotonic dystrophy' http://purl.obolibrary.org/obo/MONDO_0011269 psoriasis 2 'psoriasis 2' SubClassOf 'psoriasis' 'psoriasis 2' SubClassOf 'psoriasis' http://purl.obolibrary.org/obo/MONDO_0011275 acromesomelic dysplasia 1, Maroteaux type 'acromesomelic dysplasia 1, Maroteaux type' SubClassOf 'acromesomelic dysplasia' 'acromesomelic dysplasia 1, Maroteaux type' SubClassOf 'acromesomelic dysplasia' http://purl.obolibrary.org/obo/MONDO_0011283 mitochondrial DNA depletion syndrome 1 'mitochondrial DNA depletion syndrome 1' SubClassOf 'mitochondrial DNA depletion syndrome' 'mitochondrial DNA depletion syndrome 1' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0011051 lethal short-limb skeletal dysplasia, Al Gazali type 'lethal short-limb skeletal dysplasia, Al Gazali type' SubClassOf 'dysplastic cortical hyperostosis' 'lethal short-limb skeletal dysplasia, Al Gazali type' SubClassOf 'dysplastic cortical hyperostosis' http://purl.obolibrary.org/obo/MONDO_0025699 Coffin-Siris syndrome 12 'Coffin-Siris syndrome 12' SubClassOf 'Coffin-Siris syndrome' 'Coffin-Siris syndrome 12' SubClassOf 'Coffin-Siris syndrome' http://purl.obolibrary.org/obo/MONDO_0011063 hidrotic ectodermal dysplasia, Christianson-Fourie type 'hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'ectodermal dysplasia syndrome' 'hidrotic ectodermal dysplasia, Christianson-Fourie type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011076 myofibrillar myopathy 1 'myofibrillar myopathy 1' SubClassOf 'qualitative or quantitative defects of desmin' 'myofibrillar myopathy 1' SubClassOf 'myofibrillar myopathy' 'myofibrillar myopathy 1' SubClassOf 'qualitative or quantitative defects of desmin' 'myofibrillar myopathy 1' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0011070 van Maldergem syndrome 1 'van Maldergem syndrome 1' SubClassOf 'van Maldergem syndrome' 'van Maldergem syndrome 1' SubClassOf 'van Maldergem syndrome' http://purl.obolibrary.org/obo/MONDO_0011083 trichodental syndrome 'trichodental syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'trichodental syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011093 mucopolysaccharidosis type 9 'mucopolysaccharidosis type 9' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 9' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0001704 vaginal glandular neoplasm 'vaginal glandular neoplasm' SubClassOf 'glandular cell neoplasm' 'vaginal glandular neoplasm' SubClassOf 'glandular cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0025701 leukodystrophy, hypomyelinating, 22 'leukodystrophy, hypomyelinating, 22' SubClassOf 'leukodystrophy' 'leukodystrophy, hypomyelinating, 22' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0001743 paranasal sinus lymphoma 'paranasal sinus lymphoma' SubClassOf 'paranasal sinus cancer' 'paranasal sinus lymphoma' SubClassOf 'paranasal sinus cancer' http://purl.obolibrary.org/obo/MONDO_0001776 prostate calculus 'prostate calculus' SubClassOf 'prostate disease' 'prostate calculus' SubClassOf 'prostate disease' http://purl.obolibrary.org/obo/MONDO_0001784 malignant renovascular hypertension 'malignant renovascular hypertension' SubClassOf 'renal hypertension' 'malignant renovascular hypertension' SubClassOf 'renal hypertension' http://purl.obolibrary.org/obo/MONDO_0011119 iridogoniodysgenesis 'iridogoniodysgenesis' SubClassOf 'anterior segment dysgenesis' 'iridogoniodysgenesis' SubClassOf 'anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0011128 Sheldon-hall syndrome 'Sheldon-hall syndrome' SubClassOf 'distal arthrogryposis' 'Sheldon-hall syndrome' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0011125 trichothiodystrophy 1, photosensitive 'trichothiodystrophy 1, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' 'trichothiodystrophy 1, photosensitive' SubClassOf 'photosensitive trichothiodystrophy' http://purl.obolibrary.org/obo/MONDO_0011131 tricho-oculo-dermo-vertebral syndrome 'tricho-oculo-dermo-vertebral syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'tricho-oculo-dermo-vertebral syndrome' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011134 Curry-Jones syndrome 'Curry-Jones syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Curry-Jones syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030005 http://purl.obolibrary.org/obo/MONDO_0011136 Quebec platelet disorder 'Quebec platelet disorder' SubClassOf 'alpha granule disease' 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' 'Quebec platelet disorder' SubClassOf 'alpha granule disease' 'Quebec platelet disorder' SubClassOf 'inherited bleeding disorder, platelet-type' http://purl.obolibrary.org/obo/MONDO_0011138 systemic lupus erythematosus, susceptibility to, 1 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'systemic lupus erythematosus' http://purl.obolibrary.org/obo/MONDO_0011143 cone-rod dystrophy 6 'cone-rod dystrophy 6' SubClassOf 'cone-rod dystrophy' 'cone-rod dystrophy 6' SubClassOf 'cone-rod dystrophy' http://purl.obolibrary.org/obo/MONDO_0011147 chromosome 18q deletion syndrome 'chromosome 18q deletion syndrome' SubClassOf 'disease has major feature' some 'cataract' 'chromosome 18q deletion syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'cataract' http://purl.obolibrary.org/obo/MONDO_0011141 megaloblastic anemia, folate-responsive 'megaloblastic anemia, folate-responsive' SubClassOf 'genetic disorder' 'megaloblastic anemia, folate-responsive' SubClassOf http://purl.obolibrary.org/obo/MONDO_0971066 http://purl.obolibrary.org/obo/MONDO_0011154 acrofacial dysostosis, Palagonia type 'acrofacial dysostosis, Palagonia type' SubClassOf 'acrofacial dysostosis' 'acrofacial dysostosis, Palagonia type' SubClassOf 'acrofacial dysostosis' http://purl.obolibrary.org/obo/MONDO_0011156 progressive familial intrahepatic cholestasis type 2 'progressive familial intrahepatic cholestasis type 2' SubClassOf 'progressive familial intrahepatic cholestasis' 'progressive familial intrahepatic cholestasis type 2' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0011157 Gomez-Lopez-Hernandez syndrome 'Gomez-Lopez-Hernandez syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'Gomez-Lopez-Hernandez syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' 'malignant hyperthermia, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#predisposes_towards some 'malignant hyperthermia of anesthesia' http://purl.obolibrary.org/obo/MONDO_0001627 dementia 'dementia' EquivalentTo 'cognitive disorder' and ('disease has major feature' some 'Dementia') 'dementia' SubClassOf 'disease has major feature' some 'Dementia' 'dementia' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dementia' 'dementia' EquivalentTo 'cognitive disorder' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Dementia') http://purl.obolibrary.org/obo/MONDO_0001649 fungal esophagitis 'fungal esophagitis' SubClassOf 'fungal infectious disease' 'fungal esophagitis' SubClassOf 'fungal infectious disease' http://purl.obolibrary.org/obo/MONDO_0001650 acute cystitis 'acute cystitis' SubClassOf 'cystitis' 'acute cystitis' SubClassOf 'cystitis' 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' 'diarrheal disease' EquivalentTo 'disease' and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Diarrhea') 'diarrheal disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Diarrhea' http://purl.obolibrary.org/obo/MONDO_0001676 erythropoietic protoporphyria 'erythropoietic protoporphyria' SubClassOf 'inherited porphyria' 'erythropoietic protoporphyria' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0001680 vaginal mullerian papilloma 'vaginal mullerian papilloma' SubClassOf 'benign vaginal neoplasm' 'vaginal mullerian papilloma' SubClassOf 'benign vaginal neoplasm' http://purl.obolibrary.org/obo/MONDO_0011010 Matthew-Wood syndrome 'Matthew-Wood syndrome' SubClassOf 'syndromic microphthalmia' 'Matthew-Wood syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0011022 Potocki-Shaffer syndrome 'Potocki-Shaffer syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' 'Potocki-Shaffer syndrome' SubClassOf 'syndromic disease' 'Potocki-Shaffer syndrome' SubClassOf 'partial deletion of the short arm of chromosome 11' 'Potocki-Shaffer syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011026 autosomal recessive congenital ichthyosis 4A 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'autosomal recessive congenital ichthyosis' 'autosomal recessive congenital ichthyosis 4A' SubClassOf 'autosomal recessive congenital ichthyosis' 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_0011045 MMEP syndrome 'MMEP syndrome' SubClassOf 'syndromic microphthalmia' 'MMEP syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0011041 ectodermal dysplasia with natal teeth, Turnpenny type 'ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'ectodermal dysplasia syndrome' 'ectodermal dysplasia with natal teeth, Turnpenny type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0001499 retroperitoneal lymphoma 'retroperitoneal lymphoma' SubClassOf 'lymphoma' 'retroperitoneal lymphoma' SubClassOf 'lymphoma' http://purl.obolibrary.org/obo/MONDO_0001507 viral labyrinthitis 'viral labyrinthitis' SubClassOf 'viral disease' 'viral labyrinthitis' SubClassOf 'viral disease' http://purl.obolibrary.org/obo/MONDO_0001530 secondary hyperparathyroidism of renal origin 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' 'secondary hyperparathyroidism of renal origin' SubClassOf 'secondary hyperparathyroidism' http://purl.obolibrary.org/obo/MONDO_0001538 retinal ischemia 'retinal ischemia' SubClassOf 'ischemic disease' 'retinal ischemia' SubClassOf 'ischemic disease' http://purl.obolibrary.org/obo/MONDO_0001551 ulceration of vulva 'ulceration of vulva' SubClassOf 'disease has major feature' some 'Genital ulcers' 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and ('disease has major feature' some 'Genital ulcers') 'ulceration of vulva' EquivalentTo 'disease' and ('disease has location' some 'mammalian vulva') and (http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Genital ulcers') 'ulceration of vulva' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Genital ulcers' http://purl.obolibrary.org/obo/MONDO_0001557 olecranon bursitis 'olecranon bursitis' SubClassOf 'bursitis' 'olecranon bursitis' SubClassOf 'bursitis' http://purl.obolibrary.org/obo/MONDO_0001566 hypercalcemia disease 'hypercalcemia disease' SubClassOf 'disease has major feature' some 'Hypercalcemia' 'hypercalcemia disease' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Hypercalcemia' http://purl.obolibrary.org/obo/MONDO_0001586 mucopolysaccharidosis type 1 'mucopolysaccharidosis type 1' SubClassOf 'mucopolysaccharidosis' 'mucopolysaccharidosis type 1' SubClassOf 'mucopolysaccharidosis' http://purl.obolibrary.org/obo/MONDO_0025354 spermatogenic failure, X-linked, 3 'spermatogenic failure, X-linked, 3' SubClassOf 'azoospermia' 'spermatogenic failure, X-linked, 3' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0025353 developmental and epileptic encephalopathy, 90 'developmental and epileptic encephalopathy, 90' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 90' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0001420 trigeminal nerve neoplasm 'trigeminal nerve neoplasm' SubClassOf 'trigeminal nerve disease' 'trigeminal nerve neoplasm' SubClassOf 'trigeminal nerve disease' 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/mondo/mondo-base#disease_has_major_feature some 'Intraalveolar phospholipid accumulation' http://purl.obolibrary.org/obo/MONDO_0001251 chronic apical periodontitis 'chronic apical periodontitis' SubClassOf 'Periapical Periodontitis' 'chronic apical periodontitis' SubClassOf 'Periapical Periodontitis' http://purl.obolibrary.org/obo/MONDO_0001275 spinal meningioma 'spinal meningioma' SubClassOf 'spinal cord neoplasm' 'spinal meningioma' SubClassOf 'spinal cord neoplasm' http://purl.obolibrary.org/obo/MONDO_0001298 congenital mitral valve insufficiency 'congenital mitral valve insufficiency' SubClassOf 'mitral valve disease' 'congenital mitral valve insufficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_1030008 http://purl.obolibrary.org/obo/MONDO_0015926 pneumoconiosis 'pneumoconiosis' SubClassOf 'interstitial lung disease' 'pneumoconiosis' SubClassOf 'interstitial lung disease' http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia 'frontometaphyseal dysplasia' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'frontometaphyseal dysplasia' SubClassOf 'otopalatodigital syndrome spectrum disorder' http://purl.obolibrary.org/obo/MONDO_0001328 thyroid hormone resistance syndrome 'thyroid hormone resistance syndrome' SubClassOf 'disease has major feature' some 'Abnormal thyroid-stimulating hormone level' 'thyroid hormone resistance syndrome' SubClassOf http://purl.obolibrary.org/obo/mondo/mondo-base#disease_has_major_feature some 'Abnormal thyroid-stimulating hormone level' http://purl.obolibrary.org/obo/MONDO_0001335 hypotrichosis of eyelid 'hypotrichosis of eyelid' SubClassOf 'eyelid disease' 'hypotrichosis of eyelid' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0001334 hypertrichosis of eyelid 'hypertrichosis of eyelid' SubClassOf 'hypertrichosis' 'hypertrichosis of eyelid' SubClassOf 'eyelid disease' 'hypertrichosis of eyelid' SubClassOf 'hypertrichosis' 'hypertrichosis of eyelid' SubClassOf 'eyelid disease' http://purl.obolibrary.org/obo/MONDO_0015974 severe combined immunodeficiency 'severe combined immunodeficiency' SubClassOf 'combined immunodeficiency' 'severe combined immunodeficiency' SubClassOf 'combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0001340 heart cancer 'heart cancer' SubClassOf 'thoracic cancer' 'heart cancer' SubClassOf 'thoracic cancer' http://purl.obolibrary.org/obo/MONDO_0015776 rhizomelic chondrodysplasia punctata 'rhizomelic chondrodysplasia punctata' SubClassOf 'chondrodysplasia punctata' 'rhizomelic chondrodysplasia punctata' SubClassOf 'chondrodysplasia punctata' http://purl.obolibrary.org/obo/MONDO_0015772 trisomy 8q 'trisomy 8q' SubClassOf 'partial duplication of the long arm of chromosome 8' 'trisomy 8q' SubClassOf 'partial duplication of the long arm of chromosome 8' http://purl.obolibrary.org/obo/MONDO_0015780 dyskeratosis congenita 'dyskeratosis congenita' SubClassOf 'ectodermal dysplasia syndrome' 'dyskeratosis congenita' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0001157 dependent personality disorder 'dependent personality disorder' SubClassOf 'personality disorder' 'dependent personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0015792 transient congenital hypothyroidism 'transient congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' 'transient congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0001163 paranoid personality disorder 'paranoid personality disorder' SubClassOf 'personality disorder' 'paranoid personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0001161 schizoid personality disorder 'schizoid personality disorder' SubClassOf 'personality disorder' 'schizoid personality disorder' SubClassOf 'personality disorder' http://purl.obolibrary.org/obo/MONDO_0001192 esophageal melanoma 'esophageal melanoma' SubClassOf 'esophageal cancer' 'esophageal melanoma' SubClassOf 'digestive system melanoma' 'esophageal melanoma' SubClassOf 'esophageal cancer' 'esophageal melanoma' SubClassOf 'digestive system melanoma' http://purl.obolibrary.org/obo/MONDO_0001208 acute respiratory failure 'acute respiratory failure' SubClassOf 'respiratory failure' 'acute respiratory failure' SubClassOf 'respiratory failure' http://purl.obolibrary.org/obo/MONDO_0015867 vaginal carcinoma 'vaginal carcinoma' SubClassOf 'carcinoma' 'vaginal carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0015884 autosomal dominant hypohidrotic ectodermal dysplasia 'autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' 'autosomal dominant hypohidrotic ectodermal dysplasia' SubClassOf 'hypohidrotic ectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0015883 hidrotic ectodermal dysplasia, Halal type 'hidrotic ectodermal dysplasia, Halal type' SubClassOf 'ectodermal dysplasia syndrome' 'hidrotic ectodermal dysplasia, Halal type' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0971063 autosomal dominant dopa-responsive dystonia 'autosomal dominant dopa-responsive dystonia' SubClassOf 'inborn errors of metabolism' 'autosomal dominant dopa-responsive dystonia' SubClassOf 'dopa-responsive dystonia' 'autosomal dominant dopa-responsive dystonia' SubClassOf 'inherited dystonia' http://purl.obolibrary.org/obo/MONDO_0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency 'megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency' SubClassOf 'disorder of folate metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0971004 amyloidosis, hereditary systemic 1 'amyloidosis, hereditary systemic 1' SubClassOf 'familial amyloid neuropathy' http://purl.obolibrary.org/obo/MONDO_1040030 GBA1-related Parkinson disease, susceptibility 'GBA1-related Parkinson disease, susceptibility' SubClassOf 'predisposes towards' some 'Parkinson disease' 'GBA1-related Parkinson disease, susceptibility' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_1040031 dyneinopathy 'dyneinopathy' SubClassOf 'syndromic intellectual disability' 'dyneinopathy' SubClassOf 'exudative vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_1040032 EN1-related dorsoventral syndrome 'EN1-related dorsoventral syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_1040037 IMPG1-related recessive retinopathy 'IMPG1-related recessive retinopathy' SubClassOf 'inherited retinal dystrophy' 'IMPG1-related recessive retinopathy' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_1040036 IMPG1-related dominant retinopathy 'IMPG1-related dominant retinopathy' SubClassOf 'inherited retinal dystrophy' 'IMPG1-related dominant retinopathy' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_1040026 metastatic malignant neoplasm in the brain 'metastatic malignant neoplasm in the brain' SubClassOf 'brain cancer' 'metastatic malignant neoplasm in the brain' SubClassOf 'metastatic malignant neoplasm' 'metastatic malignant neoplasm in the brain' EquivalentTo 'metastatic malignant neoplasm' and ('disease has location' some 'brain') http://purl.obolibrary.org/obo/MONDO_1040052 PROM1-related recessive retinopathy 'PROM1-related recessive retinopathy' SubClassOf 'PROM1-related retinopathy' 'PROM1-related recessive retinopathy' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_1040050 MKKS-related ciliopathy 'MKKS-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_1040055 PRPH2-related retinopathy 'PRPH2-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_1040056 PROM1-related retinopathy 'PROM1-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_1040053 PROM1-related dominant retinopathy 'PROM1-related dominant retinopathy' SubClassOf 'PROM1-related retinopathy' 'PROM1-related dominant retinopathy' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_1040040 HGSNAT-related retinopathy 'HGSNAT-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_1040041 FZD4-related exudative vitreoretinopathy 'FZD4-related exudative vitreoretinopathy' SubClassOf 'exudative vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_1040010 IRF6-related condition 'IRF6-related condition' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_1040015 infectious disease with sepsis 'infectious disease with sepsis' SubClassOf 'infectious disease' http://purl.obolibrary.org/obo/MONDO_1040016 cerebral artery stenosis 'cerebral artery stenosis' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_1040019 Enterococcus infectious disease 'Enterococcus infectious disease' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_1040002 PIK3CA-related overgrowth spectrum 'PIK3CA-related overgrowth spectrum' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_1040009 TRIP11-related skeletal dysplasia 'TRIP11-related skeletal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/GO_0045259 proton-transporting ATP synthase complex 'proton-transporting ATP synthase complex' SubClassOf 'part of' some 'membrane' 'proton-transporting ATP synthase complex' SubClassOf 'cellular_component' http://purl.obolibrary.org/obo/GO_0045275 respiratory chain complex III 'respiratory chain complex III' SubClassOf 'cellular_component' 'respiratory chain complex III' SubClassOf 'part of' some 'membrane' http://www.ebi.ac.uk/efo/EFO_0022859 Visium CytAssist Spatial Gene Expression, 6.5mm 'Visium CytAssist Spatial Gene Expression, 6.5mm' SubClassOf 'Visium CytAssist Spatial Gene Expression V2' http://www.ebi.ac.uk/efo/EFO_0022858 Visium CytAssist Spatial Gene Expression V2 'Visium CytAssist Spatial Gene Expression V2' SubClassOf 'Visium Spatial Gene Expression' http://www.ebi.ac.uk/efo/EFO_0022855 ovary atrophy 'ovary atrophy' SubClassOf 'ovarian disease' http://www.ebi.ac.uk/efo/EFO_0022854 fallopian tube atrophy 'fallopian tube atrophy' SubClassOf 'fallopian tube disease' http://www.ebi.ac.uk/efo/EFO_0022857 Visium Spatial Gene Expression V1 'Visium Spatial Gene Expression V1' SubClassOf 'Visium Spatial Gene Expression' http://www.ebi.ac.uk/efo/EFO_0022856 feeding problems of newborn 'feeding problems of newborn' SubClassOf 'perinatal disease' http://www.ebi.ac.uk/efo/EFO_0022851 thoracic root disorder 'thoracic root disorder' SubClassOf 'radiculopathy' http://www.ebi.ac.uk/efo/EFO_0022850 phantom limb syndrome 'phantom limb syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0022853 otorrhagia 'otorrhagia' SubClassOf 'disorder of ear' http://www.ebi.ac.uk/efo/EFO_0022852 conjunctival scar 'conjunctival scar' SubClassOf 'conjunctival disorder' http://www.ebi.ac.uk/efo/EFO_0022848 amino-acid transport disorder 'amino-acid transport disorder' SubClassOf 'metabolic disease' http://www.ebi.ac.uk/efo/EFO_0022847 pelvic neoplasm 'pelvic neoplasm' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_0022849 popliteal nerve lesion 'popliteal nerve lesion' SubClassOf 'peripheral neuropathy' http://www.ebi.ac.uk/efo/EFO_0022844 fecal microbiota transplantation 'fecal microbiota transplantation' SubClassOf 'medical procedure' http://www.ebi.ac.uk/efo/EFO_0022843 Singular G4 'Singular G4' SubClassOf 'high throughput sequencer' http://www.ebi.ac.uk/efo/EFO_0022846 5' STRT-seq '5' STRT-seq' SubClassOf 'STRT-seq' http://www.ebi.ac.uk/efo/EFO_0022845 modified STRT-seq 'modified STRT-seq' SubClassOf 'STRT-seq' http://www.ebi.ac.uk/efo/EFO_0022860 Visium CytAssist Spatial Gene Expression, 11mm 'Visium CytAssist Spatial Gene Expression, 11mm' SubClassOf 'Visium CytAssist Spatial Gene Expression V2' http://purl.obolibrary.org/obo/MONDO_0700280 post-treatment Lyme disease syndrome 'post-treatment Lyme disease syndrome' SubClassOf 'post-bacterial disorder' 'post-treatment Lyme disease syndrome' SubClassOf 'disease arises from feature' some 'Lyme disease' http://purl.obolibrary.org/obo/MONDO_0700282 POLR3-related leukodystrophy 'POLR3-related leukodystrophy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0700277 POLR3B-related disorder 'POLR3B-related disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700276 POLR3A-related disorder 'POLR3A-related disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0700275 prostate cancer, hereditary 'prostate cancer, hereditary' SubClassOf 'prostate cancer' 'prostate cancer, hereditary' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0968955 hypocalcified amelogenesis imperfecta 'hypocalcified amelogenesis imperfecta' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0014508 vitelliform macular dystrophy 4 'vitelliform macular dystrophy 4' SubClassOf 'adult-onset foveomacular vitelliform dystrophy' 'vitelliform macular dystrophy 4' SubClassOf 'IMPG1-related recessive retinopathy' http://purl.obolibrary.org/obo/MONDO_1030005 mosaic SMO syndrome 'mosaic SMO syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_1030003 Mycoplasmoides infection 'Mycoplasmoides infection' SubClassOf 'bacterial disease' http://purl.obolibrary.org/obo/MONDO_1030008 mitral valve insufficiency 'mitral valve insufficiency' SubClassOf 'mitral valve disease' http://purl.obolibrary.org/obo/MONDO_1030015 acquired porphyria 'acquired porphyria' SubClassOf 'porphyria' 'acquired porphyria' SubClassOf 'acquired metabolic disease' http://purl.obolibrary.org/obo/MONDO_0019377 Mycoplasma encephalitis 'Mycoplasma encephalitis' SubClassOf 'infectious encephalitis' 'Mycoplasma encephalitis' SubClassOf 'Mycoplasmoides infection' http://purl.obolibrary.org/obo/MONDO_1010030 pediatric high-grade glioma 'pediatric high-grade glioma' SubClassOf 'childhood cancer' 'pediatric high-grade glioma' SubClassOf 'malignant glioma' http://purl.obolibrary.org/obo/MONDO_0021135 rare or common 'rare or common' SubClassOf 'disease characteristic' http://purl.obolibrary.org/obo/MONDO_0021136 rare 'rare' SubClassOf 'rare or common' http://purl.obolibrary.org/obo/MONDO_0021137 not rare 'not rare' SubClassOf 'rare or common' http://purl.obolibrary.org/obo/MONDO_0006788 obsolete hydrophthalmos 'obsolete hydrophthalmos' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013498 schizophrenia 15 'schizophrenia 15' SubClassOf 'schizophrenia' 'schizophrenia 15' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0004587 hereditary night blindness 'hereditary night blindness' SubClassOf 'night blindness' 'hereditary night blindness' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0000424 inborn vitamin B12 deficiency 'inborn vitamin B12 deficiency' SubClassOf 'vitamin metabolic disorder' 'inborn vitamin B12 deficiency' SubClassOf 'vitamin B12 deficiency' http://purl.obolibrary.org/obo/MONDO_0000866 hereditary myoglobinuria 'hereditary myoglobinuria' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0011292 dermatitis, atopic 'dermatitis, atopic' SubClassOf 'atopic eczema'