23 177 1 http://purl.obolibrary.org/obo/MONDO_0971179 arterial tortuosity-bone fragility syndrome 'arterial tortuosity-bone fragility syndrome' SubClassOf 'genetic disorder' 'arterial tortuosity-bone fragility syndrome' SubClassOf 'hereditary disorder of connective tissue' 'arterial tortuosity-bone fragility syndrome' SubClassOf 'inherited cutis laxa' 'arterial tortuosity-bone fragility syndrome' SubClassOf 'vascular disease' 'arterial tortuosity-bone fragility syndrome' SubClassOf 'osteochondrodysplasia' http://www.ebi.ac.uk/efo/EFO_0010455 adipic acid measurement 'adipic acid measurement' SubClassOf 'carboxylic acid measurement' 'adipic acid measurement' SubClassOf 'lipid measurement' 'adipic acid measurement' SubClassOf 'is_about' some 'adipic acid' 'adipic acid measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0011583 cerebral amyloid angiopathy, APP-related 'cerebral amyloid angiopathy, APP-related' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060190 http://www.orpha.net/ORDO/Orphanet_391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'Genetic malformation syndrome with short stature' 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0100317 deficiency of adenosine deaminase 2 'deficiency of adenosine deaminase 2' SubClassOf 'hereditary disorder of connective tissue' 'deficiency of adenosine deaminase 2' SubClassOf 'type 1 interferonopathy of childhood' http://www.ebi.ac.uk/efo/EFO_0010500 hypoxanthine measurement 'hypoxanthine measurement' SubClassOf 'purine measurement' 'hypoxanthine measurement' SubClassOf 'is_about' some 'hypoxanthine' 'hypoxanthine measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.orpha.net/ORDO/Orphanet_95430 Congenital tracheomalacia 'Congenital tracheomalacia' SubClassOf 'Rare otorhinolaryngological malformation' 'Congenital tracheomalacia' SubClassOf 'Genetic respiratory or mediastinal malformation' 'Congenital tracheomalacia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007088 Alzheimer disease type 1 'Alzheimer disease type 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060190 http://purl.obolibrary.org/obo/HP_0025168 Left ventricular diastolic dysfunction 'Left ventricular diastolic dysfunction' SubClassOf 'Abnormal cardiovascular system physiology' 'Left ventricular diastolic dysfunction' SubClassOf http://purl.obolibrary.org/obo/HP_0030872 http://purl.obolibrary.org/obo/MONDO_0013576 recurrent infections associated with rare immunoglobulin isotypes deficiency 'recurrent infections associated with rare immunoglobulin isotypes deficiency' SubClassOf 'predisposes towards' some 'infectious disease' http://purl.obolibrary.org/obo/HP_0002034 Abnormal rectum morphology 'Abnormal rectum morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0012732 http://purl.obolibrary.org/obo/HP_0012664 Reduced left ventricular ejection fraction 'Reduced left ventricular ejection fraction' SubClassOf 'Abnormal cardiovascular system physiology' 'Reduced left ventricular ejection fraction' SubClassOf http://purl.obolibrary.org/obo/HP_0030872 http://purl.obolibrary.org/obo/MONDO_0014306 vasculitis due to ADA2 deficiency 'vasculitis due to ADA2 deficiency' SubClassOf 'deficiency of adenosine deaminase 2' 'vasculitis due to ADA2 deficiency' SubClassOf 'hereditary disorder of connective tissue' 'vasculitis due to ADA2 deficiency' SubClassOf 'type 1 interferonopathy of childhood' http://www.ebi.ac.uk/efo/EFO_0007237 dipetalonemiasis 'dipetalonemiasis' SubClassOf 'parasitic skin disorder' 'dipetalonemiasis' SubClassOf 'Rhabditida infectious disease' 'dipetalonemiasis' SubClassOf 'filariasis' 'dipetalonemiasis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/GO_0006541 glutamine metabolic process 'glutamine metabolic process' SubClassOf 'amino acid metabolic process' http://purl.obolibrary.org/obo/MONDO_0014926 Bardet-Biedl syndrome 22 'Bardet-Biedl syndrome 22' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060191 http://www.ebi.ac.uk/efo/EFO_0007357 mansonelliasis 'mansonelliasis' SubClassOf 'Rhabditida infectious disease' http://www.orpha.net/ORDO/Orphanet_100032 Hypocalcified amelogenesis imperfecta 'Hypocalcified amelogenesis imperfecta' SubClassOf 'Rare odontal or periodontal disorder' 'Hypocalcified amelogenesis imperfecta' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001186 Sneddon syndrome 'Sneddon syndrome' SubClassOf 'hereditary skin disorder' 'Sneddon syndrome' SubClassOf 'deficiency of adenosine deaminase 2' http://purl.obolibrary.org/obo/MONDO_0030462 Joubert syndrome 40 'Joubert syndrome 40' SubClassOf http://purl.obolibrary.org/obo/MONDO_1060191 http://purl.obolibrary.org/obo/MONDO_0019736 dense deposit disease 'dense deposit disease' SubClassOf 'primary membranoproliferative glomerulonephritis' 'dense deposit disease' SubClassOf 'non-immunoglobulin-mediated membranoproliferative glomerulonephritis' http://purl.obolibrary.org/obo/HP_0008647 Pubertal developmental failure in females 'Pubertal developmental failure in females' SubClassOf 'Abnormality of the endocrine system' 'Pubertal developmental failure in females' SubClassOf http://purl.obolibrary.org/obo/HP_0008197 http://purl.obolibrary.org/obo/GO_0071953 elastic fiber 'elastic fiber' SubClassOf 'part of' some 'extracellular matrix' http://purl.obolibrary.org/obo/MONDO_0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 'muscular dystrophy, limb-girdle, autosomal recessive 29' SubClassOf 'SNUPN-related muscular dystrophy with or without multi-system involvement' 'muscular dystrophy, limb-girdle, autosomal recessive 29' SubClassOf 'autosomal recessive limb-girdle muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0800441 NKX2.5-related congenital, conduction and myopathic heart disease 'NKX2.5-related congenital, conduction and myopathic heart disease' SubClassOf 'familial cardiomyopathy' 'NKX2.5-related congenital, conduction and myopathic heart disease' SubClassOf 'heart conduction disease' http://purl.obolibrary.org/obo/MONDO_0800464 SQSTM1-related multisystem proteinopathy 'SQSTM1-related multisystem proteinopathy' SubClassOf 'inborn errors of metabolism' 'SQSTM1-related multisystem proteinopathy' SubClassOf 'proteostasis deficiencies' http://purl.obolibrary.org/obo/MONDO_0035534 DONSON-related microcephaly-short stature-limb abnormalities spectrum 'DONSON-related microcephaly-short stature-limb abnormalities spectrum' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011413 cataract 9 multiple types 'cataract 9 multiple types' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0971094 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation 'cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation' SubClassOf 'polyvalvular heart disease syndrome' http://purl.obolibrary.org/obo/MONDO_0016686 diffuse astrocytoma 'diffuse astrocytoma' SubClassOf 'low-grade astrocytoma' 'diffuse astrocytoma' SubClassOf 'grade II glioma' http://purl.obolibrary.org/obo/MONDO_0016682 giant cell glioblastoma 'giant cell glioblastoma' SubClassOf 'brain glioblastoma' http://purl.obolibrary.org/obo/MONDO_0100583 Jeune syndrome - GRK2-related 'Jeune syndrome - GRK2-related' SubClassOf 'Jeune syndrome' http://purl.obolibrary.org/obo/MONDO_0100584 SNUPN-related muscular dystrophy with or without multi-system involvement 'SNUPN-related muscular dystrophy with or without multi-system involvement' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0100557 RBFOX2-related congenital heart disorder 'RBFOX2-related congenital heart disorder' SubClassOf 'cardiogenetic disease' 'RBFOX2-related congenital heart disorder' SubClassOf 'congenital heart disease' http://purl.obolibrary.org/obo/MONDO_0100539 hemiplegic migraine-developmental and epileptic encephalopathy spectrum 'hemiplegic migraine-developmental and epileptic encephalopathy spectrum' SubClassOf 'genetic developmental and epileptic encephalopathy' 'hemiplegic migraine-developmental and epileptic encephalopathy spectrum' SubClassOf 'familial hemiplegic migraine' http://purl.obolibrary.org/obo/MONDO_0858959 polymorphous low grade neuroepithelial tumor of the young 'polymorphous low grade neuroepithelial tumor of the young' SubClassOf 'central nervous system organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0858944 myxoid glioneuronal tumor 'myxoid glioneuronal tumor' SubClassOf 'central nervous system organ benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0100525 TCF7L2-related neurodevelopmental disorder 'TCF7L2-related neurodevelopmental disorder' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/HP_0000973 Cutis laxa 'Cutis laxa' SubClassOf 'Abnormally lax or hyperextensible skin' http://purl.obolibrary.org/obo/MONDO_1040014 PPFIA3-related neurodevelopmental disorder 'PPFIA3-related neurodevelopmental disorder' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_1040003 KCND2-related neurodevelopmental disorder with or without seizures 'KCND2-related neurodevelopmental disorder with or without seizures' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_1040008 CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy 'CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100235 FOXC1-related anterior segment dysgenesis 'FOXC1-related anterior segment dysgenesis' SubClassOf 'iridogoniodysgenesis' http://purl.obolibrary.org/obo/MONDO_0600014 alveolar capillary dysplasia without misalignment of pulmonary veins 'alveolar capillary dysplasia without misalignment of pulmonary veins' SubClassOf 'congenital pulmonary veins anomaly' http://purl.obolibrary.org/obo/CHEBI_30813 decanoic acid 'decanoic acid' SubClassOf 'fatty acid' http://purl.obolibrary.org/obo/MONDO_1060179 RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity 'RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_1060177 developmental and epileptic encephalopathy 119 'developmental and epileptic encephalopathy 119' SubClassOf 'genetic developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_1060185 systemic lupus erythematosus 18 'systemic lupus erythematosus 18' SubClassOf 'systemic lupus erythematosus' 'systemic lupus erythematosus 18' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_1060190 APP-related brain and vascular amyloidosis 'APP-related brain and vascular amyloidosis' SubClassOf 'cerebrovascular disorder' 'APP-related brain and vascular amyloidosis' SubClassOf 'hereditary amyloidosis' 'APP-related brain and vascular amyloidosis' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_1060191 ciliopathy-IFT74 'ciliopathy-IFT74' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0012497 congenital stationary night blindness autosomal dominant 3 'congenital stationary night blindness autosomal dominant 3' SubClassOf 'autosomal dominant disease' 'congenital stationary night blindness autosomal dominant 3' SubClassOf 'congenital nervous system disorder' 'congenital stationary night blindness autosomal dominant 3' SubClassOf 'congenital stationary night blindness' http://purl.obolibrary.org/obo/HP_0500015 Abnormal cardiac test 'Abnormal cardiac test' SubClassOf 'Abnormality of the cardiovascular system' http://purl.obolibrary.org/obo/MONDO_0012341 celiac disease, susceptibility to, 3 'celiac disease, susceptibility to, 3' SubClassOf 'inherited disease susceptibility' 'celiac disease, susceptibility to, 3' SubClassOf 'predisposes towards' some 'celiac disease' http://purl.obolibrary.org/obo/MONDO_0002787 adamantinous craniopharyngioma 'adamantinous craniopharyngioma' SubClassOf 'Craniopharyngioma' http://purl.obolibrary.org/obo/MONDO_0002696 Sertoli cell tumor 'Sertoli cell tumor' SubClassOf 'sex cord-stromal tumor' http://purl.obolibrary.org/obo/MONDO_0956990 supratentorial ependymoma, ZFTA fusion–positive 'supratentorial ependymoma, ZFTA fusion–positive' SubClassOf 'supratentorial ependymoma' http://purl.obolibrary.org/obo/MONDO_0002479 Sertoli-Leydig cell tumor 'Sertoli-Leydig cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' http://purl.obolibrary.org/obo/MONDO_0956992 posterior fossa group A ependymoma 'posterior fossa group A ependymoma' SubClassOf 'posterior fossa ependymoma' http://purl.obolibrary.org/obo/MONDO_0956993 posterior fossa group B ependymoma 'posterior fossa group B ependymoma' SubClassOf 'posterior fossa ependymoma' http://purl.obolibrary.org/obo/MONDO_0956995 astrocytoma, IDH-mutant, grade 3 'astrocytoma, IDH-mutant, grade 3' SubClassOf 'IDH-mutant anaplastic astrocytoma' http://purl.obolibrary.org/obo/MONDO_0956964 medulloblastoma SHH activated and TP53 mutant 'medulloblastoma SHH activated and TP53 mutant' SubClassOf 'medulloblastoma SHH activated' http://purl.obolibrary.org/obo/MONDO_0956965 medulloblastoma SHH activated and TP53 wild-type 'medulloblastoma SHH activated and TP53 wild-type' SubClassOf 'medulloblastoma SHH activated' http://purl.obolibrary.org/obo/MONDO_0956966 medulloblastoma non-WNT/non-SHH group 3 'medulloblastoma non-WNT/non-SHH group 3' SubClassOf 'medulloblastoma non-WNT/non-SHH' http://purl.obolibrary.org/obo/MONDO_0956967 medulloblastoma non-WNT/non-SHH group 4 'medulloblastoma non-WNT/non-SHH group 4' SubClassOf 'medulloblastoma non-WNT/non-SHH' http://purl.obolibrary.org/obo/MONDO_0850340 supratentorial ependymoma 'supratentorial ependymoma' SubClassOf 'anaplastic ependymoma' http://purl.obolibrary.org/obo/MONDO_0850332 IDH-mutant anaplastic astrocytoma 'IDH-mutant anaplastic astrocytoma' SubClassOf 'anaplastic astrocytoma' http://purl.obolibrary.org/obo/MONDO_0850335 IDH-wildtype glioblastoma 'IDH-wildtype glioblastoma' SubClassOf 'glioblastoma multiforme' http://purl.obolibrary.org/obo/MONDO_0850339 posterior fossa ependymoma 'posterior fossa ependymoma' SubClassOf 'anaplastic ependymoma' http://purl.obolibrary.org/obo/MONDO_0957197 diffuse glioma, H3 G34 mutant 'diffuse glioma, H3 G34 mutant' SubClassOf 'glioma' http://purl.obolibrary.org/obo/HP_0030872 Abnormal cardiac ventricular function 'Abnormal cardiac ventricular function' SubClassOf 'Abnormal cardiovascular system physiology' http://purl.obolibrary.org/obo/MONDO_0007060 spermatogenic failure 6 'spermatogenic failure 6' SubClassOf 'azoospermia' 'spermatogenic failure 6' SubClassOf 'male infertility due to globozoospermia' http://purl.obolibrary.org/obo/MONDO_0850066 SAMD9L-associated autoinflammatory syndrome 'SAMD9L-associated autoinflammatory syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0850101 spitzoid melanoma 'spitzoid melanoma' SubClassOf 'cutaneous melanoma' http://purl.obolibrary.org/obo/HP_0030783 Increased circulating interleukin 6 concentration 'Increased circulating interleukin 6 concentration' SubClassOf 'Abnormality of immune system physiology' http://purl.obolibrary.org/obo/MONDO_0850196 medulloblastoma WNT activated 'medulloblastoma WNT activated' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/MONDO_0850197 medulloblastoma SHH activated 'medulloblastoma SHH activated' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/MONDO_0850198 medulloblastoma non-WNT/non-SHH 'medulloblastoma non-WNT/non-SHH' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/MONDO_0859008 neurofibromatosis/schwannomatosis 'neurofibromatosis/schwannomatosis' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0012760 epilepsy, idiopathic generalized, susceptibility to, 5 'epilepsy, idiopathic generalized, susceptibility to, 5' SubClassOf 'inherited disease susceptibility' 'epilepsy, idiopathic generalized, susceptibility to, 5' SubClassOf 'predisposes towards' some 'generalised epilepsy' http://purl.obolibrary.org/obo/MONDO_0007932 age related macular degeneration 2 'age related macular degeneration 2' SubClassOf 'age-related macular degeneration' http://purl.obolibrary.org/obo/MONDO_0007963 melanoma, cutaneous malignant, susceptibility to, 1 'melanoma, cutaneous malignant, susceptibility to, 1' SubClassOf 'susceptibility to familial cutaneous melanoma' http://purl.obolibrary.org/obo/HP_0001905 Congenital thrombocytopenia 'Congenital thrombocytopenia' SubClassOf 'Thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0007365 seizures, benign familial neonatal, 1 'seizures, benign familial neonatal, 1' SubClassOf 'benign neonatal seizures' http://purl.obolibrary.org/obo/MONDO_0007385 idiopathic spontaneous coronary artery dissection 'idiopathic spontaneous coronary artery dissection' SubClassOf 'idiopathic disease' 'idiopathic spontaneous coronary artery dissection' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0013104 basal cell carcinoma, susceptibility to, 4 'basal cell carcinoma, susceptibility to, 4' SubClassOf 'basal cell carcinoma, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0003325 nodular ganglioneuroblastoma 'nodular ganglioneuroblastoma' SubClassOf 'ganglioneuroblastoma' http://purl.obolibrary.org/obo/MONDO_0003389 epithelial-myoepithelial carcinoma 'epithelial-myoepithelial carcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0003088 intramuscular hemangioma 'intramuscular hemangioma' SubClassOf 'deep hemangioma' http://purl.obolibrary.org/obo/MONDO_0003096 deep hemangioma 'deep hemangioma' SubClassOf 'hemangioma' http://purl.obolibrary.org/obo/MONDO_0859597 cns neuroblastoma with FOXR2 activation 'cns neuroblastoma with FOXR2 activation' SubClassOf 'cerebral neuroblastoma' http://purl.obolibrary.org/obo/MONDO_0859592 IDH-mutant and 1p/19q-codeleted oligodendroglioma 'IDH-mutant and 1p/19q-codeleted oligodendroglioma' SubClassOf 'anaplastic oligodendroglioma' http://purl.obolibrary.org/obo/MONDO_0013597 platelet-type bleeding disorder 14 'platelet-type bleeding disorder 14' SubClassOf 'inherited bleeding disorder, platelet-type' 'platelet-type bleeding disorder 14' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0013690 Pitt-Hopkins-like syndrome 2 'Pitt-Hopkins-like syndrome 2' SubClassOf 'genetic disorder' 'Pitt-Hopkins-like syndrome 2' SubClassOf 'Pitt-Hopkins-like syndrome' http://purl.obolibrary.org/obo/MONDO_0013470 generalized epilepsy with febrile seizures plus, type 7 'generalized epilepsy with febrile seizures plus, type 7' SubClassOf 'generalized epilepsy with febrile seizures plus' http://purl.obolibrary.org/obo/MONDO_0013509 intellectual disability, autosomal dominant 6 'intellectual disability, autosomal dominant 6' SubClassOf 'GRIN2B-related complex neurodevelopmental disorder' 'intellectual disability, autosomal dominant 6' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0013356 vesicoureteral reflux 3 'vesicoureteral reflux 3' SubClassOf 'familial vesicoureteral reflux' http://purl.obolibrary.org/obo/HP_0006480 Premature loss of teeth 'Premature loss of teeth' SubClassOf 'Abnormality of the dentition' http://purl.obolibrary.org/obo/MONDO_0013248 Fanconi anemia complementation group O 'Fanconi anemia complementation group O' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0013253 breast-ovarian cancer, familial, susceptibility to, 3 'breast-ovarian cancer, familial, susceptibility to, 3' SubClassOf 'breast-ovarian cancer, familial, susceptibility to' 'breast-ovarian cancer, familial, susceptibility to, 3' SubClassOf 'predisposes towards' some 'hereditary breast ovarian cancer syndrome' http://purl.obolibrary.org/obo/MONDO_0859614 diffuse low-grade glioma, MAPK pathway–altered 'diffuse low-grade glioma, MAPK pathway–altered' SubClassOf 'low grade glioma' http://purl.obolibrary.org/obo/MONDO_0859615 diffuse astrocytoma, MYB- or MYBL1-altered 'diffuse astrocytoma, MYB- or MYBL1-altered' SubClassOf 'diffuse astrocytoma' http://purl.obolibrary.org/obo/MONDO_0859763 mosaic neurofibromatosis type 1 'mosaic neurofibromatosis type 1' SubClassOf 'neurofibromatosis/schwannomatosis' http://purl.obolibrary.org/obo/MONDO_0003864 chronic lymphocytic leukemia/small lymphocytic lymphoma 'chronic lymphocytic leukemia/small lymphocytic lymphoma' SubClassOf 'chronic lymphocytic leukemia' http://purl.obolibrary.org/obo/HP_0006879 Pontocerebellar atrophy 'Pontocerebellar atrophy' SubClassOf 'Abnormal brainstem morphology' 'Pontocerebellar atrophy' SubClassOf 'Cerebellar atrophy' http://purl.obolibrary.org/obo/MONDO_0958119 embryonal tumor with multilayered rosettes 'embryonal tumor with multilayered rosettes' SubClassOf 'central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor' http://purl.obolibrary.org/obo/UBERON_0000081 metanephros 'metanephros' SubClassOf 'kidney' http://purl.obolibrary.org/obo/MONDO_0018738 benign metanephric tumor 'benign metanephric tumor' SubClassOf 'disease has location' some 'metanephros' 'benign metanephric tumor' EquivalentTo 'benign neoplasm' and ('disease has location' some 'metanephros') 'benign metanephric tumor' SubClassOf 'kidney benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0018437 acute myeloid leukemia with NPM1 somatic mutations 'acute myeloid leukemia with NPM1 somatic mutations' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/HP_0012743 Abdominal obesity 'Abdominal obesity' SubClassOf 'Obesity' http://purl.obolibrary.org/obo/HP_0012732 Anorectal anomaly 'Anorectal anomaly' SubClassOf 'Abnormal gastrointestinal tract morphology' http://purl.obolibrary.org/obo/MONDO_0014107 hypogonadotropic hypogonadism 21 with or without anosmia 'hypogonadotropic hypogonadism 21 with or without anosmia' SubClassOf 'Kallmann syndrome' http://purl.obolibrary.org/obo/MONDO_0004813 tuberculous pneumothorax 'tuberculous pneumothorax' SubClassOf 'pleural tuberculosis' 'tuberculous pneumothorax' SubClassOf 'pneumothorax' http://purl.obolibrary.org/obo/MONDO_0014045 Cowden syndrome 3 'Cowden syndrome 3' SubClassOf 'Cowden disease' http://purl.obolibrary.org/obo/MONDO_0010016 sclerosteosis 1 'sclerosteosis 1' SubClassOf 'sclerosteosis' http://purl.obolibrary.org/obo/MONDO_0034021 spondylodysplastic Ehlers-Danlos syndrome 'spondylodysplastic Ehlers-Danlos syndrome' SubClassOf 'Ehlers-Danlos syndrome' 'spondylodysplastic Ehlers-Danlos syndrome' SubClassOf 'linkeropathy' http://purl.obolibrary.org/obo/MONDO_0024527 glomerulopathy with fibronectin deposits 1 'glomerulopathy with fibronectin deposits 1' SubClassOf 'fibronectin glomerulopathy' http://purl.obolibrary.org/obo/MONDO_0000379 malignant Sertoli-Leydig cell tumor 'malignant Sertoli-Leydig cell tumor' SubClassOf 'Sertoli-Leydig cell tumor' 'malignant Sertoli-Leydig cell tumor' SubClassOf 'testicular carcinoma' http://purl.obolibrary.org/obo/MONDO_0000378 malignant Sertoli cell tumor 'malignant Sertoli cell tumor' SubClassOf 'Sertoli cell tumor' 'malignant Sertoli cell tumor' SubClassOf 'reproductive system cancer' http://purl.obolibrary.org/obo/MONDO_0000213 autoimmune disease, multisystem, infantile-onset 'autoimmune disease, multisystem, infantile-onset' SubClassOf 'genetic disorder' 'autoimmune disease, multisystem, infantile-onset' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0700076 glutaric acidemia IIc 'glutaric acidemia IIc' SubClassOf 'multiple acyl-CoA dehydrogenase deficiency' http://purl.obolibrary.org/obo/MONDO_0014861 autoimmune disease, multisystem, infantile-onset, 2 'autoimmune disease, multisystem, infantile-onset, 2' SubClassOf 'autoimmune disease, multisystem, infantile-onset' http://purl.obolibrary.org/obo/MONDO_0014867 spinocerebellar ataxia 43 'spinocerebellar ataxia 43' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014866 Charcot-Marie-Tooth disease axonal type 2T 'Charcot-Marie-Tooth disease axonal type 2T' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://www.ebi.ac.uk/efo/EFO_0022987 adiponectin deficiency 'adiponectin deficiency' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0022986 rare venous malformation 'rare venous malformation' SubClassOf 'Venous malformation' http://www.ebi.ac.uk/efo/EFO_0022988 Parkinson disease 6 'Parkinson disease 6' SubClassOf 'Parkinson disease' http://www.ebi.ac.uk/efo/EFO_0022983 nucleated red blood cell count 'nucleated red blood cell count' SubClassOf 'nucleated cell count' http://www.ebi.ac.uk/efo/EFO_0022982 peak aortic velocity 'peak aortic velocity' SubClassOf 'heart function attribute' http://www.ebi.ac.uk/efo/EFO_0022985 neonatal encephalopathy 'neonatal encephalopathy' SubClassOf 'Encephalopathy' http://www.ebi.ac.uk/efo/EFO_0022984 bilateral breast cancer 'bilateral breast cancer' SubClassOf 'breast cancer' http://purl.obolibrary.org/obo/MONDO_0700351 argyrophilic grain disease 'argyrophilic grain disease' SubClassOf 'tauopathy' http://purl.obolibrary.org/obo/MONDO_0700350 GRIN2B-related complex neurodevelopmental disorder 'GRIN2B-related complex neurodevelopmental disorder' SubClassOf 'GRIN-related complex neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0014571 optic atrophy 9 'optic atrophy 9' SubClassOf 'ACO2-related optic atrophy with or without extraocular features' http://purl.obolibrary.org/obo/MONDO_0700348 BMPR1A-related juvenile polyposis syndrome 'BMPR1A-related juvenile polyposis syndrome' SubClassOf 'juvenile polyposis syndrome' 'BMPR1A-related juvenile polyposis syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0014614 congenital stationary night blindness 1G 'congenital stationary night blindness 1G' SubClassOf 'congenital nervous system disorder' 'congenital stationary night blindness 1G' SubClassOf 'congenital stationary night blindness' 'congenital stationary night blindness 1G' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0700273 RAD51C-related cancer predisposition 'RAD51C-related cancer predisposition' SubClassOf 'hereditary neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0978303 Li-Takada-Miyake syndrome 'Li-Takada-Miyake syndrome' SubClassOf 'syndromic disease' 'Li-Takada-Miyake syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0978302 spermatogenic failure 100 'spermatogenic failure 100' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0978301 neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures 'neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0978300 neurodevelopmental disorder with ataxia and brain abnormalities 'neurodevelopmental disorder with ataxia and brain abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0978299 maturity-onset diabetes of the young, type 12 'maturity-onset diabetes of the young, type 12' SubClassOf 'maturity-onset diabetes of the young' http://purl.obolibrary.org/obo/MONDO_0978298 combined oxidative phosphorylation deficiency 60 'combined oxidative phosphorylation deficiency 60' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0978295 craniofaciocardiohepatic syndrome 'craniofaciocardiohepatic syndrome' SubClassOf 'syndromic disease' 'craniofaciocardiohepatic syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0978294 LSM7-related leukodystrophy and cerebellar atrophy 'LSM7-related leukodystrophy and cerebellar atrophy' SubClassOf 'hereditary neurological disease' http://purl.obolibrary.org/obo/MONDO_0978297 spermatogenic failure 99 'spermatogenic failure 99' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0978296 FICUS syndrome 'FICUS syndrome' SubClassOf 'syndromic disease' 'FICUS syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0978291 retinitis pigmentosa 99 'retinitis pigmentosa 99' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0978293 Houge-Janssens syndrome 4 'Houge-Janssens syndrome 4' SubClassOf 'Houge-Janssens syndrome' http://purl.obolibrary.org/obo/MONDO_0014505 developmental and epileptic encephalopathy, 27 'developmental and epileptic encephalopathy, 27' SubClassOf 'infantile spasms' 'developmental and epileptic encephalopathy, 27' SubClassOf 'GRIN2B-related complex neurodevelopmental disorder' 'developmental and epileptic encephalopathy, 27' SubClassOf 'genetic developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014531 amyotrophic lateral sclerosis type 22 'amyotrophic lateral sclerosis type 22' SubClassOf 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal 'lymphoma, Hodgkin, Y-linked pseudoautosomal' SubClassOf 'Hodgkins lymphoma' http://purl.obolibrary.org/obo/MONDO_0009433 hypoplastic left heart syndrome 1 'hypoplastic left heart syndrome 1' SubClassOf 'hypoplastic left heart syndrome' http://purl.obolibrary.org/obo/HP_0003771 Pulp calcification 'Pulp calcification' SubClassOf 'Abnormality of the dentition' http://purl.obolibrary.org/obo/MONDO_0020813 benign testicular sertoli cell tumor 'benign testicular sertoli cell tumor' SubClassOf 'benign sertoli cell tumor' 'benign testicular sertoli cell tumor' SubClassOf 'testicular sertoli cell tumor' 'benign testicular sertoli cell tumor' SubClassOf 'benign neoplasm of testis' http://purl.obolibrary.org/obo/MONDO_0020809 benign sertoli cell tumor 'benign sertoli cell tumor' SubClassOf 'Sertoli cell tumor' 'benign sertoli cell tumor' SubClassOf 'sex cord-stromal benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0020808 testicular sertoli cell tumor 'testicular sertoli cell tumor' SubClassOf 'Sertoli cell tumor' 'testicular sertoli cell tumor' SubClassOf 'testicular sex cord-stromal neoplasm' http://purl.obolibrary.org/obo/MONDO_0020754 visceral myopathy 1 'visceral myopathy 1' SubClassOf 'familial visceral myopathy' http://purl.obolibrary.org/obo/MONDO_0020697 lung epithelial-myoepithelial carcinoma 'lung epithelial-myoepithelial carcinoma' SubClassOf 'epithelial-myoepithelial carcinoma' 'lung epithelial-myoepithelial carcinoma' EquivalentTo 'epithelial-myoepithelial carcinoma' and ('disease has location' some 'lung') 'lung epithelial-myoepithelial carcinoma' SubClassOf 'lung carcinoma' http://purl.obolibrary.org/obo/MONDO_0020694 salivary gland epithelial myoepithelial carcinoma 'salivary gland epithelial myoepithelial carcinoma' EquivalentTo 'epithelial-myoepithelial carcinoma' and ('disease has location' some 'saliva-secreting gland') 'salivary gland epithelial myoepithelial carcinoma' SubClassOf 'salivary gland carcinoma' 'salivary gland epithelial myoepithelial carcinoma' SubClassOf 'epithelial-myoepithelial carcinoma' http://purl.obolibrary.org/obo/HP_0008197 Absence of pubertal development 'Absence of pubertal development' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/MONDO_0979883 cranioectodermal dysplasia 6 'cranioectodermal dysplasia 6' SubClassOf 'cranioectodermal dysplasia' http://purl.obolibrary.org/obo/MONDO_0005731 obsolete dipetalonemiasis 'obsolete dipetalonemiasis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0033528 Abnormal cardiac output 'Abnormal cardiac output' SubClassOf 'Abnormality of blood circulation' http://purl.obolibrary.org/obo/MONDO_0979245 neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities 'neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0979246 Nil-Deshwar neurodevelopmental syndrome 'Nil-Deshwar neurodevelopmental syndrome' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0979227 Guillouet-Gordon syndrome 'Guillouet-Gordon syndrome' SubClassOf 'genetic disorder' 'Guillouet-Gordon syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0979226 leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy 'leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0979229 congenital myopathy 26 'congenital myopathy 26' SubClassOf 'congenital myopathy' http://purl.obolibrary.org/obo/MONDO_0979228 ectodermal dysplasia 17 with or without limb malformations 'ectodermal dysplasia 17 with or without limb malformations' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0979232 oocyte/zygote/embryo maturation arrest 24 'oocyte/zygote/embryo maturation arrest 24' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0979231 oocyte/zygote/embryo maturation arrest 23 'oocyte/zygote/embryo maturation arrest 23' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0979238 developmental and epileptic encephalopathy 118 'developmental and epileptic encephalopathy 118' SubClassOf 'genetic developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0979237 pulmonary hypertension, primary, 7 'pulmonary hypertension, primary, 7' SubClassOf 'heritable pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0979239 cardiomyopathy, dilated, 1QQ 'cardiomyopathy, dilated, 1QQ' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0979234 ICHAD syndrome 'ICHAD syndrome' SubClassOf 'genetic disorder' 'ICHAD syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0979233 immunodysregulation with variable immunodeficiency and autoimmunity 'immunodysregulation with variable immunodeficiency and autoimmunity' SubClassOf 'inborn error of immunity' 'immunodysregulation with variable immunodeficiency and autoimmunity' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0979236 cardiomyopathy, dilated, 2l 'cardiomyopathy, dilated, 2l' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0979235 autoimmune disease, multisystem, infantile-onset, 5 'autoimmune disease, multisystem, infantile-onset, 5' SubClassOf 'autoimmune disease, multisystem, infantile-onset' http://purl.obolibrary.org/obo/MONDO_0979241 fanconi anemia, complementation group 10 'fanconi anemia, complementation group 10' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0979240 cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome 'cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome' SubClassOf 'genetic disorder' 'cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0979243 cardiomyopathy, dilated, 2M 'cardiomyopathy, dilated, 2M' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0011233 Axenfeld-Rieger syndrome type 3 'Axenfeld-Rieger syndrome type 3' SubClassOf 'Axenfeld-Rieger syndrome' 'Axenfeld-Rieger syndrome type 3' SubClassOf 'FOXC1-related anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0011052 amelia cleft lip palate hydrocephalus iris coloboma 'amelia cleft lip palate hydrocephalus iris coloboma' SubClassOf 'syndromic disease' 'amelia cleft lip palate hydrocephalus iris coloboma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011151 exudative vitreoretinopathy 4 'exudative vitreoretinopathy 4' SubClassOf 'LRP5-related exudative vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_1010177 IKZF2-related combined immunodeficiency 'IKZF2-related combined immunodeficiency' SubClassOf 'combined immunodeficiency syndrome' http://purl.obolibrary.org/obo/MONDO_0979865 Popov-Chang syndrome 'Popov-Chang syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0979866 oculovertebral syndrome 'oculovertebral syndrome' SubClassOf 'genetic disorder' 'oculovertebral syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0979876 Wilms tumor 7 'Wilms tumor 7' SubClassOf 'hereditary Wilms tumor' http://purl.obolibrary.org/obo/MONDO_0979875 neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima 'neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0979872 developmental dysplasia of the hip 4 'developmental dysplasia of the hip 4' SubClassOf 'developmental dysplasia of the hip' http://purl.obolibrary.org/obo/MONDO_0979871 Alsahan-Harris syndrome 'Alsahan-Harris syndrome' SubClassOf 'syndromic disease' 'Alsahan-Harris syndrome' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0979873 brain small vessel disease 4 'brain small vessel disease 4' SubClassOf 'familial porencephaly' http://purl.obolibrary.org/obo/MONDO_0979880 brain small vessel disease 5 with osteoporosis 'brain small vessel disease 5 with osteoporosis' SubClassOf 'familial porencephaly' http://purl.obolibrary.org/obo/MONDO_0015795 undifferentiated embryonal sarcoma of the liver 'undifferentiated embryonal sarcoma of the liver' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0979571 exudative vitreoretinopathy 8 'exudative vitreoretinopathy 8' SubClassOf 'exudative vitreoretinopathy' http://purl.obolibrary.org/obo/MONDO_0979570 immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy 'immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0979573 cardiomyopathy, familial hypertrophic, 31 'cardiomyopathy, familial hypertrophic, 31' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0979572 spermatogenic failure 101 'spermatogenic failure 101' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0979575 intellectual developmental disorder, autosomal dominant 76 'intellectual developmental disorder, autosomal dominant 76' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0979574 retinitis pigmentosa 100 'retinitis pigmentosa 100' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0100317 deficiency of adenosine deaminase 2 'deficiency of adenosine deaminase 2' SubClassOf 'hereditary disorder of connective tissue' 'deficiency of adenosine deaminase 2' SubClassOf 'type 1 interferonopathy of childhood'