116 961 0 http://purl.obolibrary.org/obo/GO_0044260 cellular macromolecule metabolic process 'cellular macromolecule metabolic process' SubClassOf 'macromolecule metabolic process' 'cellular macromolecule metabolic process' SubClassOf 'cellular metabolic process' 'cellular macromolecule metabolic process' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0004348 Abnormality of bone mineral density 'Abnormality of bone mineral density' SubClassOf 'Abnormal skeletal morphology' 'Abnormality of bone mineral density' SubClassOf http://purl.obolibrary.org/obo/HP_0003330 http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome 'Dravet syndrome' SubClassOf 'Channelopathy with epilepsy' 'Dravet syndrome' SubClassOf 'monogenic epilepsy' 'Dravet syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0004299 Hernia of the abdominal wall 'Hernia of the abdominal wall' SubClassOf 'Abnormality of the digestive system' 'Hernia of the abdominal wall' SubClassOf http://purl.obolibrary.org/obo/HP_0004298 http://purl.obolibrary.org/obo/OBA_2044982 level of C-C motif chemokine 2 in blood serum 'level of C-C motif chemokine 2 in blood serum' SubClassOf 'inheres in' some ('C-C motif chemokine 2' and ('part of' some 'anatomical entity')) http://purl.obolibrary.org/obo/HP_0004602 Cervical C2/C3 vertebral fusion 'Cervical C2/C3 vertebral fusion' SubClassOf 'Abnormality of the vertebral column' 'Cervical C2/C3 vertebral fusion' SubClassOf http://purl.obolibrary.org/obo/HP_0003468 http://purl.obolibrary.org/obo/HP_0004605 Absent vertebral body mineralization 'Absent vertebral body mineralization' SubClassOf 'Abnormality of the vertebral column' 'Absent vertebral body mineralization' SubClassOf http://purl.obolibrary.org/obo/HP_0003330 'Absent vertebral body mineralization' SubClassOf http://purl.obolibrary.org/obo/HP_0003468 http://www.ebi.ac.uk/efo/EFO_0009041 Cushing syndrome due to macronodular adrenal hyperplasia 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'Cushing syndrome' 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0020529 'Cushing syndrome due to macronodular adrenal hyperplasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/GO_0010468 regulation of gene expression 'regulation of gene expression' SubClassOf 'regulation of biological process' 'regulation of gene expression' SubClassOf 'regulation of cellular process' http://www.ebi.ac.uk/efo/EFO_0009158 encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 'encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy' SubClassOf 'genetic disorder' 'encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy' SubClassOf 'inherited neurodegenerative disorder' 'encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy' SubClassOf 'Mendelian encephalopathy' http://purl.obolibrary.org/obo/GO_0009101 glycoprotein biosynthetic process 'glycoprotein biosynthetic process' SubClassOf 'cellular macromolecule metabolic process' http://purl.obolibrary.org/obo/HP_0000059 Hypoplastic labia majora 'Hypoplastic labia majora' SubClassOf 'Abnormality of the genital system' 'Hypoplastic labia majora' SubClassOf http://purl.obolibrary.org/obo/HP_0000066 http://purl.obolibrary.org/obo/HP_0000016 Urinary retention 'Urinary retention' SubClassOf 'Abnormality of the bladder' 'Urinary retention' SubClassOf http://purl.obolibrary.org/obo/HP_0000009 http://purl.obolibrary.org/obo/HP_0000011 Neurogenic bladder 'Neurogenic bladder' SubClassOf 'Abnormality of the bladder' 'Neurogenic bladder' SubClassOf http://purl.obolibrary.org/obo/HP_0000009 http://purl.obolibrary.org/obo/HP_0000019 Urinary hesitancy 'Urinary hesitancy' SubClassOf 'Abnormality of the bladder' 'Urinary hesitancy' SubClassOf http://purl.obolibrary.org/obo/HP_0000009 http://purl.obolibrary.org/obo/HP_0000020 Urinary incontinence 'Urinary incontinence' SubClassOf 'Abnormality of the bladder' 'Urinary incontinence' SubClassOf http://purl.obolibrary.org/obo/HP_0000009 http://purl.obolibrary.org/obo/HP_0000029 Testicular atrophy 'Testicular atrophy' SubClassOf 'Abnormality of the genital system' 'Testicular atrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0000035 http://purl.obolibrary.org/obo/HP_0000220 Velopharyngeal insufficiency 'Velopharyngeal insufficiency' SubClassOf 'Abnormality of the mouth' 'Velopharyngeal insufficiency' SubClassOf http://purl.obolibrary.org/obo/HP_0100736 http://purl.obolibrary.org/obo/HP_0000269 Prominent occiput 'Prominent occiput' SubClassOf 'Abnormal skull morphology' 'Prominent occiput' SubClassOf http://purl.obolibrary.org/obo/HP_0012294 http://purl.obolibrary.org/obo/HP_0000160 Narrow mouth 'Narrow mouth' SubClassOf 'Abnormality of the mouth' 'Narrow mouth' SubClassOf http://purl.obolibrary.org/obo/HP_0011337 http://purl.obolibrary.org/obo/HP_0000154 Wide mouth 'Wide mouth' SubClassOf 'Abnormality of the mouth' 'Wide mouth' SubClassOf http://purl.obolibrary.org/obo/HP_0011337 http://purl.obolibrary.org/obo/HP_0000481 Abnormal cornea morphology 'Abnormal cornea morphology' SubClassOf 'Abnormality of the eye' 'Abnormal cornea morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0004328 http://purl.obolibrary.org/obo/HP_0010059 Broad hallux phalanx 'Broad hallux phalanx' SubClassOf http://purl.obolibrary.org/obo/HP_0011314 http://purl.obolibrary.org/obo/HP_0000517 Abnormal lens morphology 'Abnormal lens morphology' SubClassOf 'Abnormality of the eye' 'Abnormal lens morphology' SubClassOf http://purl.obolibrary.org/obo/HP_0004328 http://www.ebi.ac.uk/efo/EFO_0005184 DBA/2J 'DBA/2J' SubClassOf 'Mus musculus' 'DBA/2J' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022419 http://purl.obolibrary.org/obo/HP_0000774 Narrow chest 'Narrow chest' SubClassOf 'Abnormal thorax morphology' 'Narrow chest' SubClassOf http://purl.obolibrary.org/obo/HP_0005257 http://www.ebi.ac.uk/efo/EFO_0005422 skin aging 'skin aging' SubClassOf 'aging' 'skin aging' SubClassOf 'developmental process' http://purl.obolibrary.org/obo/HP_0000989 Pruritus 'Pruritus' SubClassOf 'Abnormality of the skin' 'Pruritus' SubClassOf http://purl.obolibrary.org/obo/HP_0011122 http://purl.obolibrary.org/obo/HP_0010577 Absent epiphyses 'Absent epiphyses' SubClassOf 'Abnormal skeletal morphology' 'Absent epiphyses' SubClassOf http://purl.obolibrary.org/obo/HP_0011314 http://purl.obolibrary.org/obo/HP_0010841 Multifocal epileptiform discharges 'Multifocal epileptiform discharges' SubClassOf 'EEG abnormality' 'Multifocal epileptiform discharges' SubClassOf http://purl.obolibrary.org/obo/HP_0011182 http://purl.obolibrary.org/obo/HP_0009736 Tibial pseudarthrosis 'Tibial pseudarthrosis' SubClassOf 'Abnormal skeletal morphology' 'Tibial pseudarthrosis' SubClassOf http://purl.obolibrary.org/obo/HP_0011314 http://purl.obolibrary.org/obo/HP_0009737 Lisch nodules 'Lisch nodules' SubClassOf 'Abnormality of the eye' 'Lisch nodules' SubClassOf http://purl.obolibrary.org/obo/HP_0004328 http://www.ebi.ac.uk/efo/EFO_0010602 brain age measurement 'brain age measurement' SubClassOf 'is_about' some 'aging' http://www.ebi.ac.uk/efo/EFO_0009762 healthspan 'healthspan' SubClassOf 'is_about' some 'aging' http://www.ebi.ac.uk/efo/EFO_0010787 interleukin-12 subunit B measurement 'interleukin-12 subunit B measurement' SubClassOf 'is_about' some 'blood' 'interleukin-12 subunit B measurement' SubClassOf 'blood protein measurement' 'interleukin-12 subunit B measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0005469 Flat occiput 'Flat occiput' SubClassOf 'Abnormal skull morphology' 'Flat occiput' SubClassOf http://purl.obolibrary.org/obo/HP_0012294 http://purl.obolibrary.org/obo/HP_0040079 Irregular dentition 'Irregular dentition' SubClassOf 'Abnormality of the dentition' 'Irregular dentition' SubClassOf http://purl.obolibrary.org/obo/HP_0006482 http://purl.obolibrary.org/obo/HP_0030775 Modic type vertebral endplate changes 'Modic type vertebral endplate changes' SubClassOf 'Abnormality of the vertebral column' 'Modic type vertebral endplate changes' SubClassOf http://purl.obolibrary.org/obo/HP_0003468 http://purl.obolibrary.org/obo/HP_0040165 Periostitis 'Periostitis' SubClassOf 'Abnormal skeletal morphology' 'Periostitis' SubClassOf http://purl.obolibrary.org/obo/HP_0003330 http://purl.obolibrary.org/obo/HP_0001100 Heterochromia iridis 'Heterochromia iridis' SubClassOf 'Abnormality of the eye' 'Heterochromia iridis' SubClassOf http://purl.obolibrary.org/obo/HP_0004328 http://purl.obolibrary.org/obo/HP_0001320 Cerebellar vermis hypoplasia 'Cerebellar vermis hypoplasia' SubClassOf http://purl.obolibrary.org/obo/HP_0002334 http://purl.obolibrary.org/obo/HP_0001269 Hemiparesis 'Hemiparesis' SubClassOf 'Abnormal central motor function' 'Hemiparesis' SubClassOf http://purl.obolibrary.org/obo/HP_0004374 http://purl.obolibrary.org/obo/HP_0001266 Choreoathetosis 'Choreoathetosis' SubClassOf 'Abnormality of movement' 'Choreoathetosis' SubClassOf 'Abnormal central motor function' 'Choreoathetosis' SubClassOf http://purl.obolibrary.org/obo/HP_0002305 http://purl.obolibrary.org/obo/HP_0001195 Single umbilical artery 'Single umbilical artery' SubClassOf 'Abnormal cardiovascular system morphology' 'Single umbilical artery' SubClassOf http://purl.obolibrary.org/obo/HP_0010948 http://purl.obolibrary.org/obo/HP_0001495 Carpal osteolysis 'Carpal osteolysis' SubClassOf http://purl.obolibrary.org/obo/HP_0003330 http://purl.obolibrary.org/obo/HP_0011110 Recurrent tonsillitis 'Recurrent tonsillitis' SubClassOf 'Abnormality of the lymphatic system' 'Recurrent tonsillitis' SubClassOf http://purl.obolibrary.org/obo/HP_0100765 http://purl.obolibrary.org/obo/HP_0011123 Inflammatory abnormality of the skin 'Inflammatory abnormality of the skin' SubClassOf 'Abnormality of the skin' 'Inflammatory abnormality of the skin' SubClassOf http://purl.obolibrary.org/obo/HP_0011122 http://purl.obolibrary.org/obo/HP_0011198 EEG with generalized epileptiform discharges 'EEG with generalized epileptiform discharges' SubClassOf 'EEG abnormality' 'EEG with generalized epileptiform discharges' SubClassOf http://purl.obolibrary.org/obo/HP_0011182 http://purl.obolibrary.org/obo/HP_0011090 Fused teeth 'Fused teeth' SubClassOf 'Abnormality of the dentition' 'Fused teeth' SubClassOf http://purl.obolibrary.org/obo/HP_0006482 http://purl.obolibrary.org/obo/HP_0001655 Patent foramen ovale 'Patent foramen ovale' SubClassOf http://purl.obolibrary.org/obo/HP_0005120 http://purl.obolibrary.org/obo/HP_0001684 Secundum atrial septal defect 'Secundum atrial septal defect' SubClassOf http://purl.obolibrary.org/obo/HP_0005120 http://purl.obolibrary.org/obo/HP_0001634 Mitral valve prolapse 'Mitral valve prolapse' SubClassOf 'Abnormal heart morphology' 'Mitral valve prolapse' SubClassOf http://purl.obolibrary.org/obo/HP_0001633 http://purl.obolibrary.org/obo/HP_0001883 Talipes 'Talipes' SubClassOf 'Abnormal foot morphology' 'Talipes' SubClassOf http://purl.obolibrary.org/obo/HP_0005656 http://purl.obolibrary.org/obo/HP_0011565 Common atrium 'Common atrium' SubClassOf 'Abnormal heart morphology' 'Common atrium' SubClassOf http://purl.obolibrary.org/obo/HP_0005120 http://www.ebi.ac.uk/efo/EFO_0004505 telomere length 'telomere length' SubClassOf 'is_about' some 'aging' http://purl.obolibrary.org/obo/HP_0031295 Left atrial enlargement 'Left atrial enlargement' SubClassOf 'Abnormal heart morphology' 'Left atrial enlargement' SubClassOf http://purl.obolibrary.org/obo/HP_0005120 http://purl.obolibrary.org/obo/HP_0031458 Adenoiditis 'Adenoiditis' SubClassOf 'Abnormality of the lymphatic system' 'Adenoiditis' SubClassOf 'Abnormality of the respiratory system' 'Adenoiditis' SubClassOf 'Abnormality of the nose' 'Adenoiditis' SubClassOf http://purl.obolibrary.org/obo/HP_3000033 http://purl.obolibrary.org/obo/HP_0006487 Bowing of the long bones 'Bowing of the long bones' SubClassOf 'Abnormal skeletal morphology' 'Bowing of the long bones' SubClassOf http://purl.obolibrary.org/obo/HP_0011314 http://purl.obolibrary.org/obo/HP_0006855 Cerebellar vermis atrophy 'Cerebellar vermis atrophy' SubClassOf http://purl.obolibrary.org/obo/HP_0002334 http://purl.obolibrary.org/obo/HP_0002007 Frontal bossing 'Frontal bossing' SubClassOf 'Abnormal skull morphology' 'Frontal bossing' SubClassOf http://purl.obolibrary.org/obo/HP_0430000 http://purl.obolibrary.org/obo/HP_0100783 Breast aplasia 'Breast aplasia' SubClassOf 'Abnormality of the breast' 'Breast aplasia' SubClassOf http://purl.obolibrary.org/obo/HP_0010311 http://purl.obolibrary.org/obo/HP_0100813 Testicular torsion 'Testicular torsion' SubClassOf 'Abnormality of the genital system' 'Testicular torsion' SubClassOf http://purl.obolibrary.org/obo/HP_0000035 http://purl.obolibrary.org/obo/HP_0100501 Recurrent bronchiolitis 'Recurrent bronchiolitis' SubClassOf 'Recurrent respiratory infections' 'Recurrent bronchiolitis' SubClassOf http://purl.obolibrary.org/obo/HP_0002783 http://purl.obolibrary.org/obo/HP_0002335 Agenesis of cerebellar vermis 'Agenesis of cerebellar vermis' SubClassOf http://purl.obolibrary.org/obo/HP_0002334 http://purl.obolibrary.org/obo/HP_0012278 Abnormal circulating serine concentration 'Abnormal circulating serine concentration' SubClassOf 'Abnormal circulating carboxylic acid concentration' 'Abnormal circulating serine concentration' SubClassOf http://purl.obolibrary.org/obo/HP_0010894 http://purl.obolibrary.org/obo/HP_0012194 Episodic hemiplegia 'Episodic hemiplegia' SubClassOf 'Abnormal central motor function' 'Episodic hemiplegia' SubClassOf http://purl.obolibrary.org/obo/HP_0004374 http://purl.obolibrary.org/obo/HP_0002937 Hemivertebrae 'Hemivertebrae' SubClassOf 'Abnormality of the vertebral column' 'Hemivertebrae' SubClassOf http://purl.obolibrary.org/obo/HP_0003312 http://www.ebi.ac.uk/efo/EFO_0007735 CBA/J 'CBA/J' SubClassOf 'Mus musculus' 'CBA/J' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022463 http://www.ebi.ac.uk/efo/EFO_0007736 NOD/ShiLtJ 'NOD/ShiLtJ' SubClassOf 'NOD mouse' 'NOD/ShiLtJ' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022477 http://purl.obolibrary.org/obo/HP_0007700 Ocular anterior segment dysgenesis 'Ocular anterior segment dysgenesis' SubClassOf 'Abnormality of the eye' 'Ocular anterior segment dysgenesis' SubClassOf http://purl.obolibrary.org/obo/HP_0004328 http://purl.obolibrary.org/obo/CL_3000001 Hofbauer cell 'Hofbauer cell' SubClassOf 'macrophage' 'Hofbauer cell' SubClassOf 'tissue-resident macrophage' http://purl.obolibrary.org/obo/GO_0006306 DNA methylation 'DNA methylation' SubClassOf 'cellular macromolecule metabolic process' http://purl.obolibrary.org/obo/OBA_2041778 level of glutathione peroxidase 2 in blood serum 'level of glutathione peroxidase 2 in blood serum' SubClassOf 'inheres in' some ('glutathione peroxidase 2' and ('part of' some 'anatomical entity')) http://purl.obolibrary.org/obo/HP_0007750 Hypoplasia of the fovea 'Hypoplasia of the fovea' SubClassOf 'Abnormal macular morphology' 'Hypoplasia of the fovea' SubClassOf http://purl.obolibrary.org/obo/HP_0008059 http://purl.obolibrary.org/obo/GO_0055069 zinc ion homeostasis 'zinc ion homeostasis' SubClassOf 'homeostatic process' 'zinc ion homeostasis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0003026 Short long bone 'Short long bone' SubClassOf 'Abnormal skeletal morphology' 'Short long bone' SubClassOf http://purl.obolibrary.org/obo/HP_0011314 http://purl.obolibrary.org/obo/UBERON_6005436 insect trunk mesoderm anlage 'insect trunk mesoderm anlage' SubClassOf 'Drosophila component' 'insect trunk mesoderm anlage' SubClassOf 'anlage' 'insect trunk mesoderm anlage' SubClassOf 'part of' some 'embryonic structure' 'insect trunk mesoderm anlage' SubClassOf 'embryonic structure' 'insect trunk mesoderm anlage' SubClassOf 'part of' some 'multicellular organism' 'insect trunk mesoderm anlage' SubClassOf 'part of' some 'embryo' 'insect trunk mesoderm anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_6005434 insect visual anlage 'insect visual anlage' SubClassOf 'Drosophila developmental tissue' 'insect visual anlage' SubClassOf 'anlage' 'insect visual anlage' SubClassOf 'part of' some 'embryonic structure' 'insect visual anlage' SubClassOf 'embryonic structure' 'insect visual anlage' SubClassOf 'part of' some 'embryo' 'insect visual anlage' SubClassOf 'part of' some 'multicellular organism' 'insect visual anlage' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/UBERON_6005413 insect anlage in statu nascendi 'insect anlage in statu nascendi' SubClassOf 'animal developmental tissue' 'insect anlage in statu nascendi' SubClassOf 'embryonic structure' 'insect anlage in statu nascendi' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001110 pituitary-dependent Cushing's disease http://purl.obolibrary.org/obo/MONDO_0020529 DisjointWith 'pituitary-dependent Cushing's disease' http://purl.obolibrary.org/obo/MONDO_0000700 familial hemiplegic migraine 'familial hemiplegic migraine' DisjointWith http://purl.obolibrary.org/obo/MONDO_0020757 http://www.ebi.ac.uk/efo/EFO_0001336 CBA/CaJ 'CBA/CaJ' SubClassOf 'Mus musculus' 'CBA/CaJ' SubClassOf http://www.ebi.ac.uk/efo/EFO_0022463 http://www.ebi.ac.uk/efo/EFO_0800624 12,13-DiHOME measurement '12,13-DiHOME measurement' SubClassOf 'metabolite measurement' '12,13-DiHOME measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0008348 Decreased circulating IgG2 level 'Decreased circulating IgG2 level' SubClassOf 'Abnormal cellular physiology' 'Decreased circulating IgG2 level' SubClassOf 'Abnormality of blood and blood-forming tissues' 'Decreased circulating IgG2 level' SubClassOf 'Abnormality of the immune system' 'Decreased circulating IgG2 level' SubClassOf http://purl.obolibrary.org/obo/HP_0004315 http://purl.obolibrary.org/obo/HP_0008734 Decreased testicular size 'Decreased testicular size' SubClassOf 'Abnormality of the genital system' 'Decreased testicular size' SubClassOf http://purl.obolibrary.org/obo/HP_0000035 http://www.ebi.ac.uk/efo/EFO_0021572 9,10-dihome measurement '9,10-dihome measurement' SubClassOf 'metabolite measurement' '9,10-dihome measurement' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/OBA_2001020 age of onset of Buruli ulcer disease 'age of onset of Buruli ulcer disease' SubClassOf 'Onset' 'age of onset of Buruli ulcer disease' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001013 age of onset of type 2 diabetes mellitus 'age of onset of type 2 diabetes mellitus' SubClassOf 'Onset' 'age of onset of type 2 diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001012 age of onset of type 1 diabetes mellitus 'age of onset of type 1 diabetes mellitus' SubClassOf 'Onset' 'age of onset of type 1 diabetes mellitus' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001017 age of onset of allergic disease 'age of onset of allergic disease' SubClassOf 'Onset' 'age of onset of allergic disease' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001016 age of onset of alcohol dependence 'age of onset of alcohol dependence' SubClassOf 'Onset' 'age of onset of alcohol dependence' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001019 age of onset of bipolar disorder 'age of onset of bipolar disorder' SubClassOf 'Onset' 'age of onset of bipolar disorder' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001018 age of onset of amyotrophic lateral sclerosis 'age of onset of amyotrophic lateral sclerosis' SubClassOf 'Onset' 'age of onset of amyotrophic lateral sclerosis' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001001 age of onset of asthma 'age of onset of asthma' SubClassOf 'Onset' 'age of onset of asthma' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001004 age of onset of cataract 'age of onset of cataract' SubClassOf 'Onset' 'age of onset of cataract' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001008 age of onset of osteoarthritis 'age of onset of osteoarthritis' SubClassOf 'Onset' 'age of onset of osteoarthritis' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001007 age of onset of hyperlipidemia 'age of onset of hyperlipidemia' SubClassOf 'Onset' 'age of onset of hyperlipidemia' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001009 age of onset of Parkinson disease 'age of onset of Parkinson disease' SubClassOf 'Onset' 'age of onset of Parkinson disease' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001033 age of onset of coronary atherosclerosis 'age of onset of coronary atherosclerosis' SubClassOf 'Onset' 'age of onset of coronary atherosclerosis' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001032 age of onset of narcolepsy-cataplexy syndrome 'age of onset of narcolepsy-cataplexy syndrome' SubClassOf 'Onset' 'age of onset of narcolepsy-cataplexy syndrome' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001031 age of onset of refractive error 'age of onset of refractive error' SubClassOf 'Onset' 'age of onset of refractive error' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001024 age of onset of Huntington disease 'age of onset of Huntington disease' SubClassOf 'Onset' 'age of onset of Huntington disease' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001026 age of onset of migraine disorder 'age of onset of migraine disorder' SubClassOf 'Onset' 'age of onset of migraine disorder' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2001029 age of onset of multiple sclerosis 'age of onset of multiple sclerosis' SubClassOf 'Onset' 'age of onset of multiple sclerosis' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2050099 age of onset of anorexia nervosa 'age of onset of anorexia nervosa' SubClassOf 'Onset' 'age of onset of anorexia nervosa' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/GO_0007568 aging 'aging' SubClassOf 'developmental process' 'aging' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/OBA_2040167 age of onset of cervical dystonia 'age of onset of cervical dystonia' SubClassOf 'Onset' 'age of onset of cervical dystonia' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2040166 age of onset of depressive disorder 'age of onset of depressive disorder' SubClassOf 'Onset' 'age of onset of depressive disorder' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2040165 age of onset of cognitive disorder 'age of onset of cognitive disorder' SubClassOf 'Onset' 'age of onset of cognitive disorder' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2040156 age of onset of coronary stenosis 'age of onset of coronary stenosis' SubClassOf 'Onset' 'age of onset of coronary stenosis' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2040159 age of onset of hypertensive disorder 'age of onset of hypertensive disorder' SubClassOf 'Onset' 'age of onset of hypertensive disorder' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2040158 age of onset of systemic lupus erythematosus 'age of onset of systemic lupus erythematosus' SubClassOf 'Onset' 'age of onset of systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2040153 age of onset of cancer 'age of onset of cancer' SubClassOf 'Onset' 'age of onset of cancer' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2040155 age of onset of stroke disorder 'age of onset of stroke disorder' SubClassOf 'Onset' 'age of onset of stroke disorder' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2040154 age of onset of glaucoma 'age of onset of glaucoma' SubClassOf 'Onset' 'age of onset of glaucoma' SubClassOf http://purl.obolibrary.org/obo/OBA_2020000 http://purl.obolibrary.org/obo/OBA_2040279 level of interleukin-12 subunit beta in blood serum 'level of interleukin-12 subunit beta in blood serum' SubClassOf 'amount' 'level of interleukin-12 subunit beta in blood serum' SubClassOf http://purl.obolibrary.org/obo/OBA_2050349 http://purl.obolibrary.org/obo/MONDO_0021547 amelogenesis imperfecta type 3B 'amelogenesis imperfecta type 3B' SubClassOf 'amelogenesis imperfecta' http://purl.obolibrary.org/obo/HP_0004374 Hemiplegia/hemiparesis 'Hemiplegia/hemiparesis' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/HP_0004384 Type I truncus arteriosus 'Type I truncus arteriosus' SubClassOf 'Truncus arteriosus' http://purl.obolibrary.org/obo/HP_0004390 Hamartomatous polyposis 'Hamartomatous polyposis' SubClassOf 'Abnormal intestine morphology' http://purl.obolibrary.org/obo/HP_0004328 Abnormal anterior eye segment morphology 'Abnormal anterior eye segment morphology' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/MONDO_0800045 autoinflammatory syndrome, familial, Behcet-like 1 'autoinflammatory syndrome, familial, Behcet-like 1' SubClassOf 'autoinflammatory syndrome, familial, Behcet-like' http://purl.obolibrary.org/obo/MONDO_0800046 thyroid hormone metabolism, abnormal 1 'thyroid hormone metabolism, abnormal 1' SubClassOf 'peripheral hypothyroidism' 'thyroid hormone metabolism, abnormal 1' SubClassOf 'thyroid hormone metabolism, abnormal' http://purl.obolibrary.org/obo/MONDO_0800043 Stüve-Wiedemann syndrome 1 'Stüve-Wiedemann syndrome 1' SubClassOf 'bent bone dysplasia' 'Stüve-Wiedemann syndrome 1' SubClassOf 'Stuve-Wiedemann syndrome' 'Stüve-Wiedemann syndrome 1' SubClassOf 'Schwartz-Jampel syndrome' http://purl.obolibrary.org/obo/MONDO_0800044 congenital disorder of deglycosylation 1 'congenital disorder of deglycosylation 1' SubClassOf 'glycoprotein metabolism disease' 'congenital disorder of deglycosylation 1' SubClassOf 'congenital disorder of deglycosylation' 'congenital disorder of deglycosylation 1' SubClassOf 'bearer_of' some 'rare' 'congenital disorder of deglycosylation 1' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0800042 restrictive dermopathy 1 'restrictive dermopathy 1' SubClassOf 'restrictive dermopathy' 'restrictive dermopathy 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'restrictive dermopathy 1' SubClassOf 'laminopathy' http://purl.obolibrary.org/obo/MONDO_0800031 central hypoventilation syndrome, congenital 'central hypoventilation syndrome, congenital' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0004315 Decreased circulating IgG level 'Decreased circulating IgG level' SubClassOf 'Abnormality of the immune system' 'Decreased circulating IgG level' SubClassOf 'Abnormal cellular physiology' 'Decreased circulating IgG level' SubClassOf 'Abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/MONDO_0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf 'leukoencephalopathy, hereditary diffuse, with spheroids' 'leukoencephalopathy, diffuse hereditary, with spheroids 1' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0800028 dyskinesia with orofacial involvement, autosomal dominant 'dyskinesia with orofacial involvement, autosomal dominant' SubClassOf 'movement disorder' 'dyskinesia with orofacial involvement, autosomal dominant' SubClassOf 'dyskinesia with orofacial involvement' http://purl.obolibrary.org/obo/MONDO_0800025 Teebi hypertelorism syndrome 1 'Teebi hypertelorism syndrome 1' SubClassOf 'Teebi hypertelorism syndrome' http://purl.obolibrary.org/obo/MONDO_0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'central hypoventilation syndrome, congenital' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'neurocristopathy' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'syndromic disease' 'central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease' SubClassOf 'bearer_of' some 'rare' '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 'congenital nervous system disorder' http://purl.obolibrary.org/obo/CHEBI_60943 5-HETE '5-HETE' SubClassOf 'HETE' http://purl.obolibrary.org/obo/MONDO_0021497 benign neoplasm of cerebrum 'benign neoplasm of cerebrum' SubClassOf 'neoplasm of cerebral hemisphere' 'benign neoplasm of cerebrum' SubClassOf 'Benign Brain Neoplasm' http://purl.obolibrary.org/obo/HP_0004298 Abnormality of the abdominal wall 'Abnormality of the abdominal wall' SubClassOf 'Abnormality of the digestive system' http://purl.obolibrary.org/obo/MONDO_0011915 mitral valve prolapse, myxomatous 2 'mitral valve prolapse, myxomatous 2' SubClassOf 'familial mitral valve prolapse' http://purl.obolibrary.org/obo/MONDO_0011922 nonimmune chronic idiopathic neutropenia of adults 'nonimmune chronic idiopathic neutropenia of adults' SubClassOf 'genetic disorder' 'nonimmune chronic idiopathic neutropenia of adults' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/HP_0004619 Lumbar kyphoscoliosis 'Lumbar kyphoscoliosis' SubClassOf 'Kyphoscoliosis' 'Lumbar kyphoscoliosis' SubClassOf 'Thoracolumbar scoliosis' http://purl.obolibrary.org/obo/MONDO_0035944 B-lymphoblastic leukemia/lymphoma with hypodiploidy 'B-lymphoblastic leukemia/lymphoma with hypodiploidy' SubClassOf 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' http://purl.obolibrary.org/obo/MONDO_0011817 coronary heart disease, susceptibility to, 1 'coronary heart disease, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'coronary heart disease, susceptibility to, 1' SubClassOf 'predisposes towards' some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0011839 Newfoundland cone-rod dystrophy 'Newfoundland cone-rod dystrophy' SubClassOf 'cone-rod dystrophy' 'Newfoundland cone-rod dystrophy' SubClassOf 'RLBP1-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0035819 cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 'cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0045051 cortical cataract 'cortical cataract' SubClassOf 'cataract' http://purl.obolibrary.org/obo/MONDO_0800380 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial '17-alpha-hydroxylase/17,20-lyase deficiency, combined partial' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0800379 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete '17-alpha-hydroxylase/17,20-lyase deficiency, combined complete' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0800377 ACTH-independent adrenal Cushing syndrome, somatic 'ACTH-independent adrenal Cushing syndrome, somatic' SubClassOf 'ACTH-independent Cushing syndrome' http://purl.obolibrary.org/obo/MONDO_0800378 17,20-lyase deficiency, isolated '17,20-lyase deficiency, isolated' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0800372 Joubert syndrome 29 'Joubert syndrome 29' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0800368 cardiomyopathy, dilated, 1MM 'cardiomyopathy, dilated, 1MM' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0800369 parkinson disease 19B, early-onset 'parkinson disease 19B, early-onset' SubClassOf 'juvenile-onset Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0800367 cardiomyopathy, dilated, 1LL 'cardiomyopathy, dilated, 1LL' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0800320 cone dystrophy 1, X-linked 'cone dystrophy 1, X-linked' SubClassOf 'retinal degeneration' http://purl.obolibrary.org/obo/MONDO_0800321 congenital heart defects, multiple types, 1, X-linked 'congenital heart defects, multiple types, 1, X-linked' SubClassOf 'congenital heart malformation' http://purl.obolibrary.org/obo/MONDO_0800328 retinitis pigmentosa 94, variable age at onset 'retinitis pigmentosa 94, variable age at onset' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0800329 febrile seizures, familial, 3a 'febrile seizures, familial, 3a' SubClassOf 'febrile seizures, familial' http://purl.obolibrary.org/obo/MONDO_0800353 congenital disorder of glycosylation, type Ibb 'congenital disorder of glycosylation, type Ibb' SubClassOf 'congenital disorder of glycosylation' http://purl.obolibrary.org/obo/MONDO_0800356 short-rib thoracic dysplasia 7/20 with polydactyly, digenic 'short-rib thoracic dysplasia 7/20 with polydactyly, digenic' SubClassOf 'short rib dysplasia' http://purl.obolibrary.org/obo/MONDO_0011726 peripheral arterial occlusive disease 1 'peripheral arterial occlusive disease 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0004875 Neonatal inspiratory stridor 'Neonatal inspiratory stridor' SubClassOf 'Respiratory insufficiency' 'Neonatal inspiratory stridor' SubClassOf 'Stridor' http://purl.obolibrary.org/obo/MONDO_0800347 cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction 'cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction' SubClassOf 'familial hypertrophic cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0800344 brachydactyly-syndactyly-oligodactyly syndrome 'brachydactyly-syndactyly-oligodactyly syndrome' SubClassOf 'skeletal system disease' http://purl.obolibrary.org/obo/MONDO_0800410 UV-induced skin damage, susceptibility to 'UV-induced skin damage, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0800416 autism, susceptibility to, 1 'autism, susceptibility to, 1' SubClassOf 'autism, susceptiblity to' http://purl.obolibrary.org/obo/MONDO_0800414 aplastic anemia, susceptibility to 'aplastic anemia, susceptibility to' SubClassOf 'inherited disease susceptibility' 'aplastic anemia, susceptibility to' SubClassOf 'predisposes towards' some 'aplastic anemia' http://purl.obolibrary.org/obo/MONDO_0800404 PCARE-related retinopathy 'PCARE-related retinopathy' SubClassOf 'inherited retinal dystrophy' 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' http://purl.obolibrary.org/obo/MONDO_0800421 cardiomyopathy, familial hypertrophic, 4, susceptibility to 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf 'predisposes towards' some 'hypertrophic cardiomyopathy' 'cardiomyopathy, familial hypertrophic, 4, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0800422 cirrhosis, noncryptogenic, susceptibility to 'cirrhosis, noncryptogenic, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0800425 coronary artery disease, severe, susceptibility to 'coronary artery disease, severe, susceptibility to' SubClassOf 'inherited disease susceptibility' 'coronary artery disease, severe, susceptibility to' SubClassOf 'predisposes towards' some 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0021171 Timothy syndrome, classic type 'Timothy syndrome, classic type' SubClassOf 'Timothy syndrome' http://purl.obolibrary.org/obo/MONDO_0035605 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality 'B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality' SubClassOf 'precursor lymphoblastic lymphoma/leukemia' http://purl.obolibrary.org/obo/MONDO_0011651 intellectual disability, short stature, facial anomalies, and joint dislocations 'intellectual disability, short stature, facial anomalies, and joint dislocations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011685 polysubstance abuse, susceptibility to 'polysubstance abuse, susceptibility to' SubClassOf 'predisposes towards' some 'drug dependence' 'polysubstance abuse, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0035661 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 'TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0035651 choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 'choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0035678 Timothy syndrome type 1 'Timothy syndrome type 1' SubClassOf 'Timothy syndrome, classic type' http://purl.obolibrary.org/obo/MONDO_0060496 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 'neurodevelopmental disorder with hypotonia, neuropathy, and deafness' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0800195 achalasia-alacrima syndrome 'achalasia-alacrima syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0800131 hyper-IgE recurrent infection syndrome 4A, autosomal dominant 'hyper-IgE recurrent infection syndrome 4A, autosomal dominant' SubClassOf 'hyper-IgE syndrome' http://purl.obolibrary.org/obo/MONDO_0800132 autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency 'autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0800130 autoinflammatory syndrome with immunodeficiency 'autoinflammatory syndrome with immunodeficiency' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0800129 autoinflammatory disease, X-linked 'autoinflammatory disease, X-linked' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0800101 NMNAT1-related retinopathy 'NMNAT1-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0800104 immunodeficiency 105 'immunodeficiency 105' SubClassOf 'familial severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0011505 familial hypobetalipoproteinemia 2 'familial hypobetalipoproteinemia 2' SubClassOf 'hypobetalipoproteinemia' http://purl.obolibrary.org/obo/MONDO_0011514 tricuspid atresia 'tricuspid atresia' SubClassOf 'genetic disorder' 'tricuspid atresia' SubClassOf 'congenital heart disease' 'tricuspid atresia' SubClassOf 'congenital tricuspid malformation' http://purl.obolibrary.org/obo/MONDO_0800299 myopathy, congenital, with excess of muscle spindles 'myopathy, congenital, with excess of muscle spindles' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0800279 epilepsy, idiopathic generalized, susceptibility to, 6 'epilepsy, idiopathic generalized, susceptibility to, 6' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0800271 epilepsy, juvenile myoclonic, susceptibility to, 6 'epilepsy, juvenile myoclonic, susceptibility to, 6' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0800200 arthrogryposis, distal, type 2B4 'arthrogryposis, distal, type 2B4' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0800204 calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia 'calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0800312 wooly hair, autosomal recessive 1, with or without hypotrichosis 'wooly hair, autosomal recessive 1, with or without hypotrichosis' SubClassOf 'isolated familial wooly hair disorder' http://purl.obolibrary.org/obo/MONDO_0800306 epilepsy, progressive myoclonic, 2b 'epilepsy, progressive myoclonic, 2b' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0800304 neuropathy, hereditary sensory and autonomic, type IId 'neuropathy, hereditary sensory and autonomic, type IId' SubClassOf 'hereditary peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0011421 mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 1' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency, nuclear type 1' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' 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' http://purl.obolibrary.org/obo/HP_0000049 Shawl scrotum 'Shawl scrotum' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/HP_0000066 Labial hypoplasia 'Labial hypoplasia' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/HP_0000009 Functional abnormality of the bladder 'Functional abnormality of the bladder' SubClassOf 'Abnormality of the bladder' http://purl.obolibrary.org/obo/HP_0000035 Abnormal testis morphology 'Abnormal testis morphology' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/MONDO_0031632 developmental delay with short stature, dysmorphic facial features, and sparse hair 'developmental delay with short stature, dysmorphic facial features, and sparse hair' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016034 cleft lip with or without cleft palate 'cleft lip with or without cleft palate' SubClassOf 'disorder of facial skeleton' 'cleft lip with or without cleft palate' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0016044 cleft lip/palate 'cleft lip/palate' SubClassOf 'cleft lip with or without cleft palate' http://purl.obolibrary.org/obo/MONDO_0016043 isolated cleft lip 'isolated cleft lip' SubClassOf 'orofacial cleft' 'isolated cleft lip' SubClassOf 'cleft lip with or without cleft palate' 'isolated cleft lip' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/HP_0000274 Small face 'Small face' SubClassOf 'Abnormal facial shape' http://purl.obolibrary.org/obo/HP_0000275 Narrow face 'Narrow face' SubClassOf 'Small face' http://purl.obolibrary.org/obo/MONDO_0031400 Tessadori-Van-Haaften neurodevelopmental syndrome 'Tessadori-Van-Haaften neurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031415 Carey-Fineman-Ziter syndrome 'Carey-Fineman-Ziter syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031447 macrothrombocytopenia, isolated 'macrothrombocytopenia, isolated' SubClassOf 'inherited thrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0031432 thyroid hormone metabolism, abnormal 'thyroid hormone metabolism, abnormal' SubClassOf 'genetic disorder' 'thyroid hormone metabolism, abnormal' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/HP_0000472 Long neck 'Long neck' SubClassOf 'Abnormality of the neck' http://purl.obolibrary.org/obo/HP_0000410 Mixed hearing impairment 'Mixed hearing impairment' SubClassOf 'Sensorineural hearing impairment' 'Mixed hearing impairment' SubClassOf 'Conductive hearing impairment' 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 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031386 cardioacrofacial dysplasia 'cardioacrofacial dysplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031384 autoinflammatory syndrome, familial, Behcet-like 'autoinflammatory syndrome, familial, Behcet-like' SubClassOf 'hereditary disorder of connective tissue' 'autoinflammatory syndrome, familial, Behcet-like' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0031376 congenital disorder of deglycosylation 'congenital disorder of deglycosylation' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/HP_0000321 Square face 'Square face' SubClassOf 'Abnormal facial shape' http://purl.obolibrary.org/obo/HP_0000371 Acute otitis media 'Acute otitis media' SubClassOf 'Increased inflammatory response' 'Acute otitis media' SubClassOf 'Abnormal ear morphology' http://purl.obolibrary.org/obo/MONDO_0031200 Bryant-Li-Bhoj neurodevelopmental syndrome 'Bryant-Li-Bhoj neurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBA_2020000 age of onset of disease 'age of onset of disease' SubClassOf 'Onset' http://purl.obolibrary.org/obo/HP_0000636 Upper eyelid coloboma 'Upper eyelid coloboma' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/HP_0010047 Short 5th metacarpal 'Short 5th metacarpal' SubClassOf 'Short metacarpal' http://purl.obolibrary.org/obo/MONDO_0031115 dyskinesia with orofacial involvement 'dyskinesia with orofacial involvement' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021660 deep seated dermatophytosis 'deep seated dermatophytosis' SubClassOf 'tinea' 'deep seated dermatophytosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021659 combined carcinoid and adenocarcinoma 'combined carcinoid and adenocarcinoma' SubClassOf 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0031007 spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis 'spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis' SubClassOf 'congenital nervous system disorder' 'spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis' SubClassOf 'NMNAT1-related retinopathy' http://purl.obolibrary.org/obo/MONDO_0031006 neurodegeneration with ataxia and late-onset optic atrophy 'neurodegeneration with ataxia and late-onset optic atrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0031003 hypercholanemia, familial, 2 'hypercholanemia, familial, 2' SubClassOf 'hypercholanemia, familial' http://purl.obolibrary.org/obo/MONDO_0031002 Baralle-Macken syndrome 'Baralle-Macken syndrome' SubClassOf 'genetic disorder' 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' http://purl.obolibrary.org/obo/MONDO_0031021 developmental and epileptic encephalopathy 104 'developmental and epileptic encephalopathy 104' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0031011 neurodevelopmental disorder with dysmorphic facies and variable seizures 'neurodevelopmental disorder with dysmorphic facies and variable seizures' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0031040 cholestasis, progressive familial intrahepatic, 12 'cholestasis, progressive familial intrahepatic, 12' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0031045 arthrogryposis, distal, IIa 11 'arthrogryposis, distal, IIa 11' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0031030 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection 'immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0031068 Charcot-Marie-Tooth disease, axonal, IIa 2II 'Charcot-Marie-Tooth disease, axonal, IIa 2II' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0031057 dyskeratosis congenita, digenic 'dyskeratosis congenita, digenic' SubClassOf 'dyskeratosis congenita' http://purl.obolibrary.org/obo/MONDO_0031054 ciliary dyskinesia, primary, 48, without situs inversus 'ciliary dyskinesia, primary, 48, without situs inversus' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0031052 developmental and epileptic encephalopathy 106 'developmental and epileptic encephalopathy 106' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0016986 congenital smooth muscle hamartoma 'congenital smooth muscle hamartoma' SubClassOf 'hamartoma' 'congenital smooth muscle hamartoma' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/HP_0000882 Hypoplastic scapulae 'Hypoplastic scapulae' SubClassOf 'Abnormal thorax morphology' http://purl.obolibrary.org/obo/HP_0009237 Short 5th finger 'Short 5th finger' SubClassOf 'Abnormal finger morphology' http://purl.obolibrary.org/obo/MONDO_0002443 bruxism 'bruxism' SubClassOf 'sleep-wake disorder' http://purl.obolibrary.org/obo/MONDO_0026404 X inactivation, familial skewed, 1 'X inactivation, familial skewed, 1' SubClassOf 'X inactivation, familial skewed' http://purl.obolibrary.org/obo/CHEBI_88440 9,10-DiHODE '9,10-DiHODE' SubClassOf 'fatty acid' http://purl.obolibrary.org/obo/MONDO_0002265 stereotypic movement disorder 'stereotypic movement disorder' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/HP_0010371 Aplasia/Hypoplasia of the phalanges of the 4th toe 'Aplasia/Hypoplasia of the phalanges of the 4th toe' SubClassOf 'Abnormal toe morphology' http://purl.obolibrary.org/obo/MONDO_0002017 olivopontocerebellar atrophy 'olivopontocerebellar atrophy' SubClassOf 'neurodegenerative disease' 'olivopontocerebellar atrophy' SubClassOf 'disease shares features of' some 'cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0100485 KCNH1 associated disorder 'KCNH1 associated disorder' SubClassOf 'Neurodevelopmental disorder' 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' http://purl.obolibrary.org/obo/MONDO_0100522 hypotrichosis 4 'hypotrichosis 4' SubClassOf 'Marie Unna hereditary hypotrichosis' http://purl.obolibrary.org/obo/HP_0010311 Aplasia/Hypoplasia of the breasts 'Aplasia/Hypoplasia of the breasts' SubClassOf 'Abnormality of the breast' http://purl.obolibrary.org/obo/MONDO_0016711 desmoplastic/nodular medulloblastoma 'desmoplastic/nodular medulloblastoma' SubClassOf 'medulloblastoma' http://purl.obolibrary.org/obo/MONDO_0016523 bronchogenic cyst 'bronchogenic cyst' SubClassOf 'non-syndromic respiratory or mediastinal malformation' 'bronchogenic cyst' SubClassOf 'respiratory malformation' http://purl.obolibrary.org/obo/MONDO_0100368 RPE65-related recessive retinopathy 'RPE65-related recessive retinopathy' SubClassOf 'autosomal recessive disease' 'RPE65-related recessive retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100451 CEP290-related ciliopathy 'CEP290-related ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0100454 GUCY2D retinopathy 'GUCY2D retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/MONDO_0100437 RPGR-related retinopathy 'RPGR-related retinopathy' SubClassOf 'inherited retinal dystrophy' http://purl.obolibrary.org/obo/HP_0009642 Broad distal phalanx of the thumb 'Broad distal phalanx of the thumb' SubClassOf 'Abnormal upper limb bone morphology' 'Broad distal phalanx of the thumb' SubClassOf 'Abnormal long bone morphology' 'Broad distal phalanx of the thumb' SubClassOf 'Abnormal thumb morphology' http://purl.obolibrary.org/obo/MONDO_0016418 multiple system atrophy, cerebellar type 'multiple system atrophy, cerebellar type' SubClassOf 'multiple system atrophy' http://purl.obolibrary.org/obo/MONDO_0100290 colon serrated polyposis 'colon serrated polyposis' SubClassOf 'polyp of colon' 'colon serrated polyposis' SubClassOf 'hyperplastic polyposis syndrome' http://purl.obolibrary.org/obo/MONDO_0100291 early T cell progenitor acute lymphoblastic leukemia 'early T cell progenitor acute lymphoblastic leukemia' SubClassOf 'T-cell acute lymphoblastic leukemia' 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' http://purl.obolibrary.org/obo/MONDO_0100288 enhanced S-cone syndrome 'enhanced S-cone syndrome' SubClassOf 'vitreoretinal degeneration' 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' http://purl.obolibrary.org/obo/MONDO_0100344 Bartter disease type 1 'Bartter disease type 1' SubClassOf 'antenatal Bartter syndrome' http://purl.obolibrary.org/obo/MONDO_0100311 sensory ataxia 'sensory ataxia' SubClassOf 'atactic disorder' http://purl.obolibrary.org/obo/MONDO_0100316 long QT syndrome 1 'long QT syndrome 1' SubClassOf 'familial long QT syndrome' http://purl.obolibrary.org/obo/MONDO_0016301 congenitally corrected transposition of the great arteries 'congenitally corrected transposition of the great arteries' SubClassOf 'transposition of the great arteries' http://purl.obolibrary.org/obo/MONDO_0016311 Bockenheimer syndrome 'Bockenheimer syndrome' SubClassOf 'simple vascular malformation' 'Bockenheimer syndrome' SubClassOf 'skin vascular disease' http://purl.obolibrary.org/obo/MONDO_0100192 liver failure 'liver failure' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0100173 leukemia, acute myeloid, susceptibility to 'leukemia, acute myeloid, susceptibility to' SubClassOf 'inherited disease susceptibility' 'leukemia, acute myeloid, susceptibility to' SubClassOf 'predisposes towards' some 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0016358 limited cutaneous systemic sclerosis 'limited cutaneous systemic sclerosis' SubClassOf 'systemic scleroderma' http://purl.obolibrary.org/obo/MONDO_0100151 nephropathic cystinosis 'nephropathic cystinosis' SubClassOf 'cystinosis' 'nephropathic cystinosis' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0100153 tubulinopathy 'tubulinopathy' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0100154 TUBB3-related tubulinopathy 'TUBB3-related tubulinopathy' SubClassOf 'tubulinopathy' http://purl.obolibrary.org/obo/MONDO_0100167 pulmonary disease, chronic obstructive, susceptibility to 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'predisposes towards' some 'chronic obstructive pulmonary disease' 'pulmonary disease, chronic obstructive, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100168 desmoid tumor caused by somatic mutation 'desmoid tumor caused by somatic mutation' SubClassOf 'Desmoid-type fibromatosis' 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' http://purl.obolibrary.org/obo/MONDO_0100111 focal segmental glomerulosclerosis and neurodevelopmental syndrome 'focal segmental glomerulosclerosis and neurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100222 A20 haploinsufficiency 'A20 haploinsufficiency' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/HP_0010819 Atonic seizure 'Atonic seizure' SubClassOf 'Seizure' http://purl.obolibrary.org/obo/MONDO_0100202 lumbar disk herniation, susceptibility to 'lumbar disk herniation, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100206 lumbar disk degeneration, susceptibility to 'lumbar disk degeneration, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100209 X inactivation, familial skewed 'X inactivation, familial skewed' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0010894 Abnormal circulating serine family amino acid concentration 'Abnormal circulating serine family amino acid concentration' SubClassOf 'Abnormal circulating carboxylic acid concentration' http://purl.obolibrary.org/obo/HP_0010850 EEG with spike-wave complexes 'EEG with spike-wave complexes' SubClassOf 'EEG with generalized epileptiform discharges' 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' http://purl.obolibrary.org/obo/MONDO_0100046 exfoliation syndrome, susceptibility to 'exfoliation syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'exfoliation syndrome' 'exfoliation syndrome, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0100048 graft-versus-host disease, susceptibility to 'graft-versus-host disease, susceptibility to' SubClassOf 'inherited disease susceptibility' 'graft-versus-host disease, susceptibility to' SubClassOf 'predisposes towards' some 'graft versus host disease' http://purl.obolibrary.org/obo/MONDO_0016268 papillary carcinoma of the corpus uteri 'papillary carcinoma of the corpus uteri' SubClassOf 'papillary carcinoma' 'papillary carcinoma of the corpus uteri' SubClassOf 'uterine carcinoma' 'papillary carcinoma of the corpus uteri' SubClassOf 'bearer_of' some 'rare' 'papillary carcinoma of the corpus uteri' SubClassOf 'uterine corpus cancer' http://purl.obolibrary.org/obo/MONDO_0100025 epilepsy of infancy with migrating focal seizures 'epilepsy of infancy with migrating focal seizures' SubClassOf 'neonatal/infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0600024 familial idiopathic inflammatory myopathy 'familial idiopathic inflammatory myopathy' SubClassOf 'idiopathic inflammatory myopathy' http://purl.obolibrary.org/obo/HP_0009711 Retinal capillary hemangioma 'Retinal capillary hemangioma' SubClassOf 'Abnormal retinal morphology' 'Retinal capillary hemangioma' SubClassOf 'Abnormality of the face' 'Retinal capillary hemangioma' SubClassOf 'Morphological central nervous system abnormality' 'Retinal capillary hemangioma' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/HP_0010772 Anomalous pulmonary venous return 'Anomalous pulmonary venous return' SubClassOf 'Abnormal cardiovascular system morphology' 'Anomalous pulmonary venous return' SubClassOf 'Abnormality of the pulmonary veins' http://purl.obolibrary.org/obo/HP_0010794 Impaired visuospatial constructive cognition 'Impaired visuospatial constructive cognition' SubClassOf 'Specific learning disability' http://purl.obolibrary.org/obo/MONDO_0006928 obsolete proliferative vitreoretinopathy 'obsolete proliferative vitreoretinopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0012600 autism, susceptibility to, 9 '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' http://purl.obolibrary.org/obo/HP_0010948 Abnormal fetal cardiovascular morphology 'Abnormal fetal cardiovascular morphology' SubClassOf 'Abnormal cardiovascular system morphology' 'Abnormal fetal cardiovascular morphology' SubClassOf 'Abnormality of prenatal development or birth' http://purl.obolibrary.org/obo/HP_0010943 Echogenic fetal bowel 'Echogenic fetal bowel' SubClassOf 'Abnormality of prenatal development or birth' http://purl.obolibrary.org/obo/HP_0009900 Unilateral deafness 'Unilateral deafness' SubClassOf 'Hearing abnormality' http://purl.obolibrary.org/obo/HP_0009927 Aplasia of the nose 'Aplasia of the nose' SubClassOf 'Abnormality of the nose' http://purl.obolibrary.org/obo/HP_0009917 Persistent pupillary membrane 'Persistent pupillary membrane' SubClassOf 'Abnormal anterior eye segment morphology' http://purl.obolibrary.org/obo/MONDO_0012569 mitral valve prolapse, myxomatous 3 'mitral valve prolapse, myxomatous 3' SubClassOf 'familial mitral valve prolapse' http://purl.obolibrary.org/obo/HP_0005092 Streaky metaphyseal sclerosis 'Streaky metaphyseal sclerosis' SubClassOf 'Abnormal long bone morphology' 'Streaky metaphyseal sclerosis' SubClassOf 'Abnormality of limbs' http://purl.obolibrary.org/obo/HP_0030055 Hyperconvex toenail 'Hyperconvex toenail' SubClassOf 'Nail dysplasia' http://purl.obolibrary.org/obo/MONDO_0012402 opioid dependence, susceptibility to, 1 'opioid dependence, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'opioid dependence, susceptibility to, 1' SubClassOf 'predisposes towards' some 'opioid dependence' http://purl.obolibrary.org/obo/MONDO_0012415 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4' SubClassOf 'autosomal dominant progressive external ophthalmoplegia' http://purl.obolibrary.org/obo/MONDO_0012454 alcohol sensitivity, acute 'alcohol sensitivity, acute' SubClassOf 'alcohol-related disorders' 'alcohol sensitivity, acute' SubClassOf 'acute disease' 'alcohol sensitivity, acute' SubClassOf '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 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0012292 hepatitis C virus, susceptibility to 'hepatitis C virus, susceptibility to' SubClassOf 'hereditary predisposition to infections' 'hepatitis C virus, susceptibility to' SubClassOf 'predisposes towards' some 'hepatitis C virus infection' http://purl.obolibrary.org/obo/MONDO_0810000 choroidal neovascularization 'choroidal neovascularization' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0002962 epidermolytic acanthoma 'epidermolytic acanthoma' SubClassOf 'acanthoma' http://purl.obolibrary.org/obo/MONDO_0012374 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia 'brachyphalangy, polydactyly, and tibial aplasia/hypoplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012142 orofacial cleft 5 'orofacial cleft 5' SubClassOf 'isolated cleft lip' 'orofacial cleft 5' SubClassOf 'cleft lip/palate' 'orofacial cleft 5' SubClassOf 'cleft lip and alveolus' http://purl.obolibrary.org/obo/MONDO_0012166 autosomal dominant sensory ataxia 1 'autosomal dominant sensory ataxia 1' SubClassOf 'sensory ataxia' 'autosomal dominant sensory ataxia 1' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0036192 EN1-related dorsoventral syndrome 'EN1-related dorsoventral syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0036193 parkinsonism with polyneuropathy 'parkinsonism with polyneuropathy' SubClassOf 'parkinsonian disorder' 'parkinsonism with polyneuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0036189 oculogastrointestinal-neurodevelopmental syndrome 'oculogastrointestinal-neurodevelopmental syndrome' SubClassOf 'syndromic disease' 'oculogastrointestinal-neurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0002822 trabecular adenocarcinoma 'trabecular adenocarcinoma' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/HP_0030241 Hypoplasia of deltoid muscle 'Hypoplasia of deltoid muscle' SubClassOf 'Abnormality of muscle size' 'Hypoplasia of deltoid muscle' SubClassOf 'Abnormality of the upper limb' http://purl.obolibrary.org/obo/HP_0030234 Highly elevated creatine kinase 'Highly elevated creatine kinase' SubClassOf 'Elevated circulating creatine kinase concentration' http://purl.obolibrary.org/obo/MONDO_0012202 malaria, mild, susceptibility to 'malaria, mild, susceptibility to' SubClassOf 'malaria, susceptibility to' http://purl.obolibrary.org/obo/HP_0005257 Thoracic hypoplasia 'Thoracic hypoplasia' SubClassOf 'Abnormal thorax morphology' http://purl.obolibrary.org/obo/MONDO_0012232 stuttering, familial persistent, 2 'stuttering, familial persistent, 2' SubClassOf 'stutter disorder' http://purl.obolibrary.org/obo/HP_0030230 Central core regions in muscle fibers 'Central core regions in muscle fibers' SubClassOf 'Abnormal skeletal muscle morphology' http://purl.obolibrary.org/obo/MONDO_0012243 B-cell immunodeficiency, distal limb anomalies, and urogenital malformations 'B-cell immunodeficiency, distal limb anomalies, and urogenital malformations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0030195 Fatigable weakness of swallowing muscles 'Fatigable weakness of swallowing muscles' SubClassOf 'Muscle weakness' 'Fatigable weakness of swallowing muscles' SubClassOf 'Abnormal nervous system physiology' http://purl.obolibrary.org/obo/HP_0005120 Abnormal cardiac atrium morphology 'Abnormal cardiac atrium morphology' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/MONDO_0026777 VEXAS syndrome 'VEXAS syndrome' SubClassOf 'hereditary disorder of connective tissue' 'VEXAS syndrome' SubClassOf 'autoinflammatory syndrome' http://purl.obolibrary.org/obo/HP_0005518 Increased mean corpuscular volume 'Increased mean corpuscular volume' SubClassOf 'Abnormal erythrocyte morphology' http://purl.obolibrary.org/obo/HP_0005458 Premature closure of fontanelles 'Premature closure of fontanelles' SubClassOf 'Abnormal skull morphology' http://purl.obolibrary.org/obo/MONDO_0012009 coronary heart disease, susceptibility to, 2 'coronary heart disease, susceptibility to, 2' SubClassOf 'predisposes towards' some 'coronary artery disease' 'coronary heart disease, susceptibility to, 2' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0012007 scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities 'scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_3000033 Abnormal nasopharyngeal adenoid morphology 'Abnormal nasopharyngeal adenoid morphology' SubClassOf 'Abnormality of the respiratory system' 'Abnormal nasopharyngeal adenoid morphology' SubClassOf 'Abnormality of the nose' 'Abnormal nasopharyngeal adenoid morphology' SubClassOf 'Abnormality of the tonsils' http://purl.obolibrary.org/obo/HP_0005310 Large vessel vasculitis 'Large vessel vasculitis' SubClassOf 'Abnormal cardiovascular system morphology' 'Large vessel vasculitis' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/HP_0030350 Erythematous papule 'Erythematous papule' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/MONDO_0957048 isolated macular dystrophy 'isolated macular dystrophy' SubClassOf 'macular degeneration' 'isolated macular dystrophy' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/HP_0005656 Positional foot deformity 'Positional foot deformity' SubClassOf 'Abnormal foot morphology' http://purl.obolibrary.org/obo/MONDO_0007104 amyotrophic lateral sclerosis-parkinsonism-dementia complex 'amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'neurodegenerative disease' 'amyotrophic lateral sclerosis-parkinsonism-dementia complex' SubClassOf 'disease has feature' some 'amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0007118 isolated anhidrosis with normal sweat glands 'isolated anhidrosis with normal sweat glands' SubClassOf 'bearer_of' some 'rare' 'isolated anhidrosis with normal sweat glands' SubClassOf 'anhidrosis' 'isolated anhidrosis with normal sweat glands' SubClassOf 'dermis disorder' 'isolated anhidrosis with normal sweat glands' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0007125 ankyloglossia 'ankyloglossia' SubClassOf 'tongue disorder' 'ankyloglossia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007126 spondyloarthropathy, susceptibility to, 1 'spondyloarthropathy, susceptibility to, 1' SubClassOf 'spondyloarthropathy, susceptibility to' http://purl.obolibrary.org/obo/HP_0005593 Macular hypopigmented whorls, streaks, and patches 'Macular hypopigmented whorls, streaks, and patches' SubClassOf 'Hypopigmentation of the skin' http://purl.obolibrary.org/obo/MONDO_0007156 arthritis, sacroiliac 'arthritis, sacroiliac' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007161 spermatogenic failure 2 'spermatogenic failure 2' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' 'spermatogenic failure 2' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0007184 alopecia, androgenetic, 1 'alopecia, androgenetic, 1' SubClassOf 'androgenetic alopecia' 'alopecia, androgenetic, 1' SubClassOf 'alopecia, isolated' http://purl.obolibrary.org/obo/MONDO_0007180 Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities 'Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0005944 Bilateral lung agenesis 'Bilateral lung agenesis' SubClassOf 'Abnormal lung morphology' http://purl.obolibrary.org/obo/HP_0005949 Apneic episodes in infancy 'Apneic episodes in infancy' SubClassOf 'Apnea' http://purl.obolibrary.org/obo/MONDO_0007049 acroleukopathy, symmetric 'acroleukopathy, symmetric' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007088 Alzheimer disease type 1 'Alzheimer disease type 1' SubClassOf 'early-onset autosomal dominant Alzheimer disease' http://purl.obolibrary.org/obo/HP_0005781 Contractures of the large joints 'Contractures of the large joints' SubClassOf 'Flexion contracture' http://purl.obolibrary.org/obo/MONDO_0022435 Mauriac syndrome 'Mauriac syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0859080 intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies 'intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0859171 Luo-Schoch-Yamamoto syndrome 'Luo-Schoch-Yamamoto syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859158 ataxia, intention tremor, and hypotonia syndrome, childhood-onset 'ataxia, intention tremor, and hypotonia syndrome, childhood-onset' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859150 BDV syndrome 'BDV syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859151 fibromuscular dysplasia, multifocal 'fibromuscular dysplasia, multifocal' SubClassOf 'genetic disorder' 'fibromuscular dysplasia, multifocal' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0859149 hypertriglyceridemia 2 'hypertriglyceridemia 2' SubClassOf 'Hypertriglyceridemia' http://purl.obolibrary.org/obo/MONDO_0859143 Radio-Tartaglia syndrome 'Radio-Tartaglia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859139 blepharophimosis-impaired intellectual development syndrome 'blepharophimosis-impaired intellectual development syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012913 Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome 'Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome' SubClassOf 'WAGR syndrome' http://purl.obolibrary.org/obo/MONDO_0012921 type 1 diabetes mellitus 22 'type 1 diabetes mellitus 22' SubClassOf 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0012947 intellectual disability, autosomal dominant 4 'intellectual disability, autosomal dominant 4' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0022316 hair defect with photosensitivity and intellectual disability syndrome 'hair defect with photosensitivity and intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' 'hair defect with photosensitivity and intellectual disability syndrome' SubClassOf 'autosomal recessive disease' 'hair defect with photosensitivity and intellectual disability syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012997 cholestasis-pigmentary retinopathy-cleft palate syndrome 'cholestasis-pigmentary retinopathy-cleft palate syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0022308 corticobasal degeneration disorder 'corticobasal degeneration disorder' SubClassOf 'brain disease' 'corticobasal degeneration disorder' SubClassOf 'neurodegenerative disease' 'corticobasal degeneration disorder' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0022397 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 'retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene' SubClassOf 'retinal ciliopathy' http://purl.obolibrary.org/obo/MONDO_0859190 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities 'neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859191 biliary, renal, neurologic, and skeletal syndrome 'biliary, renal, neurologic, and skeletal syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859187 neurodevelopmental disorder with hypotonia and brain abnormalities 'neurodevelopmental disorder with hypotonia and brain abnormalities' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859189 muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome 'muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859183 Parkinson disease 24, autosomal dominant, susceptibility to 'Parkinson disease 24, autosomal dominant, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0859184 ventriculomegaly and arthrogryposis 'ventriculomegaly and arthrogryposis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0001140 Limbal dermoid 'Limbal dermoid' SubClassOf 'Abnormal cornea morphology' 'Limbal dermoid' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/HP_0025069 Concomitant strabismus 'Concomitant strabismus' SubClassOf 'Strabismus' 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 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0012865 Pseudofolliculitis barbae 'Pseudofolliculitis barbae' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012893 osteoarthritis susceptibility 5 'osteoarthritis susceptibility 5' SubClassOf 'inherited disease susceptibility' 'osteoarthritis susceptibility 5' SubClassOf 'predisposes towards' some 'osteoarthritis' http://purl.obolibrary.org/obo/MONDO_0022236 colpocephaly 'colpocephaly' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0850514 inclusion body myopathy and brain white matter abnormalities 'inclusion body myopathy and brain white matter abnormalities' SubClassOf 'autosomal dominant disease' 'inclusion body myopathy and brain white matter abnormalities' SubClassOf 'inclusion body myopathy with Paget disease of bone and frontotemporal dementia' http://purl.obolibrary.org/obo/HP_0025335 Delayed ability to stand 'Delayed ability to stand' SubClassOf 'Delayed gross motor development' http://purl.obolibrary.org/obo/HP_0001331 Absent septum pellucidum 'Absent septum pellucidum' SubClassOf 'Abnormal brain morphology' http://purl.obolibrary.org/obo/HP_0001340 Enhancement of the C-reflex 'Enhancement of the C-reflex' SubClassOf 'Abnormal nervous system physiology' http://purl.obolibrary.org/obo/HP_0001341 Olfactory lobe agenesis 'Olfactory lobe agenesis' SubClassOf 'Abnormal brain morphology' http://purl.obolibrary.org/obo/MONDO_0007938 46,XY sex reversal 4 '46,XY sex reversal 4' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 4' SubClassOf '46,XY partial gonadal dysgenesis' http://purl.obolibrary.org/obo/MONDO_0007961 megalencephaly, autosomal dominant 'megalencephaly, autosomal dominant' SubClassOf 'megalencephaly' http://purl.obolibrary.org/obo/MONDO_0017340 juvenile nasopharyngeal angiofibroma 'juvenile nasopharyngeal angiofibroma' SubClassOf 'head and neck neoplasia' 'juvenile nasopharyngeal angiofibroma' SubClassOf 'otorhinolaryngologic disease' http://purl.obolibrary.org/obo/HP_0025161 Frequent temper tantrums 'Frequent temper tantrums' SubClassOf 'Atypical behavior' http://purl.obolibrary.org/obo/HP_0025163 Abnormal optic chiasm morphology 'Abnormal optic chiasm morphology' SubClassOf 'Abnormal posterior eye segment morphology' http://purl.obolibrary.org/obo/HP_0025501 Class III obesity 'Class III obesity' SubClassOf 'Increased body weight' http://purl.obolibrary.org/obo/MONDO_0007810 autosomal dominant ichthyosis vulgaris 'autosomal dominant ichthyosis vulgaris' SubClassOf 'ichthyosis vulgaris' 'autosomal dominant ichthyosis vulgaris' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/HP_0001549 Abnormal ileum morphology 'Abnormal ileum morphology' SubClassOf 'Abnormal intestine morphology' http://purl.obolibrary.org/obo/MONDO_0032819 hypothyroidism, congenital, nongoitrous, 7 'hypothyroidism, congenital, nongoitrous, 7' SubClassOf 'central congenital hypothyroidism' 'hypothyroidism, congenital, nongoitrous, 7' SubClassOf 'hypothyroidism, congenital, nongoitrous' http://purl.obolibrary.org/obo/MONDO_0032809 hepatitis, fulminant viral, susceptibility to 'hepatitis, fulminant viral, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0032807 neurodevelopmental disorder with visual defects and brain anomalies 'neurodevelopmental disorder with visual defects and brain anomalies' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0032837 abdominal obesity-metabolic syndrome 4 'abdominal obesity-metabolic syndrome 4' SubClassOf 'abdominal obesity-metabolic syndrome' http://purl.obolibrary.org/obo/MONDO_0007871 familial congenital nasolacrimal duct obstruction 'familial congenital nasolacrimal duct obstruction' SubClassOf 'excretory apparatus of the lacrimal system anomaly' 'familial congenital nasolacrimal duct obstruction' SubClassOf 'nose and cavum anomaly' 'familial congenital nasolacrimal duct obstruction' SubClassOf 'bearer_of' some 'congenital' 'familial congenital nasolacrimal duct obstruction' SubClassOf 'hereditary otorhinolaryngological malformation' 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' http://purl.obolibrary.org/obo/MONDO_0017285 penoscrotal transposition 'penoscrotal transposition' SubClassOf 'non-syndromic urogenital tract malformation of male' 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 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0032714 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 'facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032705 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination 'neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination' SubClassOf 'Mendelian neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination' SubClassOf 'leukodystrophy' 'neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination' SubClassOf 'disorder of folate metabolism and transport' http://purl.obolibrary.org/obo/MONDO_0032703 short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis 'short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis' SubClassOf 'primary bone dysplasia with multiple joint dislocations' http://purl.obolibrary.org/obo/MONDO_0032707 turnpenny-fry syndrome 'turnpenny-fry syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032738 gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy 'gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032758 neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia 'neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017112 isolated unilateral hemispheric cerebellar hypoplasia 'isolated unilateral hemispheric cerebellar hypoplasia' SubClassOf 'malformation of the cerebellar hemispheres' http://purl.obolibrary.org/obo/MONDO_0032779 neurodevelopmental disorder with microcephaly and structural brain anomalies 'neurodevelopmental disorder with microcephaly and structural brain anomalies' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0032774 cerebellar, ocular, craniofacial, and genital syndrome 'cerebellar, ocular, craniofacial, and genital syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032773 uridine-cytidineuria 'uridine-cytidineuria' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0032766 hypoalphalipoproteinemia, primary, 2 'hypoalphalipoproteinemia, primary, 2' SubClassOf 'apolipoprotein A-I deficiency' 'hypoalphalipoproteinemia, primary, 2' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0032764 Khan-Khan-Katsanis syndrome 'Khan-Khan-Katsanis syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032798 ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features 'ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities 'hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0011108 Recurrent sinusitis 'Recurrent sinusitis' SubClassOf 'Recurrent upper respiratory tract infections' 'Recurrent sinusitis' SubClassOf 'Abnormal facial skeleton morphology' 'Recurrent sinusitis' SubClassOf 'Increased inflammatory response' http://purl.obolibrary.org/obo/HP_0011122 Abnormality of skin physiology 'Abnormality of skin physiology' SubClassOf 'Abnormality of the skin' http://purl.obolibrary.org/obo/HP_0011170 Generalized myoclonic-atonic seizure 'Generalized myoclonic-atonic seizure' SubClassOf 'Seizure' http://purl.obolibrary.org/obo/MONDO_0007644 IgAD1 'IgAD1' SubClassOf 'selective IgA deficiency disease' http://purl.obolibrary.org/obo/MONDO_0007642 isolated agenesis of gallbladder 'isolated agenesis of gallbladder' SubClassOf 'biliary tract disease' 'isolated agenesis of gallbladder' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0011182 Interictal epileptiform activity 'Interictal epileptiform activity' SubClassOf 'EEG abnormality' http://purl.obolibrary.org/obo/MONDO_0032607 vertebral anomalies and variable endocrine and T-cell dysfunction 'vertebral anomalies and variable endocrine and T-cell dysfunction' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0011152 Early onset absence seizures 'Early onset absence seizures' SubClassOf 'Typical absence seizure' http://purl.obolibrary.org/obo/MONDO_0032655 visual impairment and progressive phthisis bulbi 'visual impairment and progressive phthisis bulbi' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032656 microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum 'microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032651 fibrosis, neurodegeneration, and cerebral angiomatosis 'fibrosis, neurodegeneration, and cerebral angiomatosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032648 mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations 'mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032645 trichohepatoneurodevelopmental syndrome 'trichohepatoneurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032642 arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 'arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032690 microcephaly, growth deficiency, seizures, and brain malformations 'microcephaly, growth deficiency, seizures, and brain malformations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032685 infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development 'infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0011099 Spastic hemiparesis 'Spastic hemiparesis' SubClassOf 'Hemiparesis' 'Spastic hemiparesis' SubClassOf 'Spasticity' 'Spastic hemiparesis' SubClassOf 'Abnormality of movement' http://purl.obolibrary.org/obo/HP_0001607 Subglottic stenosis 'Subglottic stenosis' SubClassOf 'Abnormal larynx morphology' http://purl.obolibrary.org/obo/HP_0001633 Abnormal mitral valve morphology 'Abnormal mitral valve morphology' SubClassOf 'Abnormal heart morphology' http://purl.obolibrary.org/obo/MONDO_0007516 ectrodactyly and ectodermal dysplasia without cleft lip/palate 'ectrodactyly and ectodermal dysplasia without cleft lip/palate' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007591 obsolete facial hypertrichosis 'obsolete facial hypertrichosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0032574 osteochondrodysplasia, brachydactyly, and overlapping malformed digits 'osteochondrodysplasia, brachydactyly, and overlapping malformed digits' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032572 cardiac, facial, and digital anomalies with developmental delay 'cardiac, facial, and digital anomalies with developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032565 ophthalmoplegia, external, with rib and vertebral anomalies 'ophthalmoplegia, external, with rib and vertebral anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0011337 Abnormality of mouth size 'Abnormality of mouth size' SubClassOf 'Abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0001988 Recurrent hypoglycemia 'Recurrent hypoglycemia' SubClassOf 'Hypoglycemia' http://purl.obolibrary.org/obo/HP_0011314 Abnormal long bone morphology 'Abnormal long bone morphology' SubClassOf 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/HP_0011229 Broad eyebrow 'Broad eyebrow' SubClassOf 'Abnormality of the face' 'Broad eyebrow' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/HP_0001852 Sandal gap 'Sandal gap' SubClassOf 'Abnormal toe morphology' http://purl.obolibrary.org/obo/HP_0011298 Prominent digit pad 'Prominent digit pad' SubClassOf 'Abnormal skin morphology' http://purl.obolibrary.org/obo/MONDO_0007367 febrile seizures, familial, 1 'febrile seizures, familial, 1' SubClassOf 'febrile seizures, familial' http://purl.obolibrary.org/obo/MONDO_0007361 C1 inhibitor deficiency 'C1 inhibitor deficiency' SubClassOf 'classic complement early component deficiency' 'C1 inhibitor deficiency' SubClassOf 'serpinopathy' http://purl.obolibrary.org/obo/HP_0001837 Broad toe 'Broad toe' SubClassOf 'Abnormal toe morphology' http://purl.obolibrary.org/obo/HP_0001833 Long foot 'Long foot' SubClassOf 'Abnormal foot morphology' http://purl.obolibrary.org/obo/HP_0011590 Double aortic arch 'Double aortic arch' SubClassOf 'Abnormal aortic morphology' http://purl.obolibrary.org/obo/MONDO_0013066 46,XY sex reversal 3 '46,XY sex reversal 3' SubClassOf '46,XY complete gonadal dysgenesis' '46,XY sex reversal 3' SubClassOf '46,XY partial gonadal dysgenesis' http://purl.obolibrary.org/obo/HP_0011483 Anterior synechiae of the anterior chamber 'Anterior synechiae of the anterior chamber' SubClassOf 'Abnormal anterior eye segment morphology' http://purl.obolibrary.org/obo/HP_0011438 Maternal teratogenic exposure 'Maternal teratogenic exposure' SubClassOf 'clinical history' http://purl.obolibrary.org/obo/HP_0011494 Generalized opacification of the cornea 'Generalized opacification of the cornea' SubClassOf 'Corneal opacity' http://purl.obolibrary.org/obo/HP_0011718 Abnormality of the pulmonary veins 'Abnormality of the pulmonary veins' SubClassOf 'Abnormal lung morphology' 'Abnormality of the pulmonary veins' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/MONDO_0027353 autosomal recessive dyskeratosis congenita 4 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'disease shares features of' some 'dyskeratosis congenita, autosomal dominant 2' 'autosomal recessive dyskeratosis congenita 4' SubClassOf 'dyskeratosis congenita' http://purl.obolibrary.org/obo/MONDO_0003425 ophthalmoplegia 'ophthalmoplegia' SubClassOf 'palsy' 'ophthalmoplegia' SubClassOf 'ocular motility disease' http://purl.obolibrary.org/obo/MONDO_0003428 brain hemangioma 'brain hemangioma' SubClassOf 'intracranial hemangioma' http://purl.obolibrary.org/obo/MONDO_0017886 MIT family translocation renal cell carcinoma 'MIT family translocation renal cell carcinoma' SubClassOf 'renal cell carcinoma' http://purl.obolibrary.org/obo/HP_0011995 Atrial septal dilatation 'Atrial septal dilatation' SubClassOf 'Abnormal cardiac septum morphology' http://purl.obolibrary.org/obo/MONDO_0017735 congenital aortic valve stenosis 'congenital aortic valve stenosis' SubClassOf 'aortic valve stenosis' http://purl.obolibrary.org/obo/MONDO_0003134 proliferative glomerulonephritis 'proliferative glomerulonephritis' SubClassOf 'glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0003145 supratentorial primitive neuroectodermal tumor 'supratentorial primitive neuroectodermal tumor' SubClassOf 'supratentorial cancer' http://purl.obolibrary.org/obo/MONDO_0017790 gastric adenocarcinoma and proximal polyposis of the stomach 'gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'disease has feature' some 'stomach polyp' 'gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'hereditary gastric cancer' 'gastric adenocarcinoma and proximal polyposis of the stomach' SubClassOf 'polyposis' http://purl.obolibrary.org/obo/HP_0011870 Impaired arachidonic acid-induced platelet aggregation 'Impaired arachidonic acid-induced platelet aggregation' SubClassOf 'Abnormal platelet aggregation' http://purl.obolibrary.org/obo/HP_0011872 Impaired thrombin-induced platelet aggregation 'Impaired thrombin-induced platelet aggregation' SubClassOf 'Abnormal platelet aggregation' http://purl.obolibrary.org/obo/HP_0011823 Chin with horizontal crease 'Chin with horizontal crease' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/MONDO_0003073 trilateral retinoblastoma 'trilateral retinoblastoma' SubClassOf 'retinoblastoma' 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' http://purl.obolibrary.org/obo/MONDO_0017591 combined pulmonary fibrosis-emphysema syndrome 'combined pulmonary fibrosis-emphysema syndrome' SubClassOf 'idiopathic interstitial pneumonia' http://purl.obolibrary.org/obo/MONDO_0013988 congenital heart defects, multiple types, 3 'congenital heart defects, multiple types, 3' SubClassOf 'genetic disorder' 'congenital heart defects, multiple types, 3' SubClassOf 'congenital heart defects, multiple types' 'congenital heart defects, multiple types, 3' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/HP_0031067 Empty ovarian follicle 'Empty ovarian follicle' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/MONDO_0859578 lacrimoauriculodentodigital syndrome 3 'lacrimoauriculodentodigital syndrome 3' SubClassOf 'LADD syndrome' http://purl.obolibrary.org/obo/MONDO_0859517 congenital myopathy 2b, severe infantile, autosomal recessive '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' http://purl.obolibrary.org/obo/MONDO_0013803 leukoencephalopathy with calcifications and cysts 'leukoencephalopathy with calcifications and cysts' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0013855 influenza, severe, susceptibility to 'influenza, severe, susceptibility to' SubClassOf 'predisposes towards' some 'influenza' 'influenza, severe, susceptibility to' SubClassOf 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0023246 linear porokeratosis 'linear porokeratosis' SubClassOf 'porokeratosis' http://purl.obolibrary.org/obo/MONDO_0859263 developmental delay, impaired speech, and behavioral abnormalities, with or without seizures 'developmental delay, impaired speech, and behavioral abnormalities, with or without seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859255 peripheral motor neuropathy, childhood-onset, biotin-responsive 'peripheral motor neuropathy, childhood-onset, biotin-responsive' SubClassOf 'motor peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0859240 intellectual developmental disorder with or without peripheral neuropathy 'intellectual developmental disorder with or without peripheral neuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859238 hypoalphalipoproteinemia, primary, 2, intermediate 'hypoalphalipoproteinemia, primary, 2, intermediate' SubClassOf 'hypoalphalipoproteinemia, primary, 2' http://purl.obolibrary.org/obo/MONDO_0859239 Chilton-Okur-Chung neurodevelopmental syndrome 'Chilton-Okur-Chung neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859234 agammaglobulinemia 8b, autosomal recessive 'agammaglobulinemia 8b, autosomal recessive' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0859233 epidermolysis bullosa, junctional 6, with pyloric atresia 'epidermolysis bullosa, junctional 6, with pyloric atresia' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0859228 combined oxidative phosphorylation deficiency 55 'combined oxidative phosphorylation deficiency 55' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/MONDO_0859226 craniotubular dysplasia, Ikegawa type 'craniotubular dysplasia, Ikegawa type' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0859221 Yoon-Bellen neurodevelopmental syndrome 'Yoon-Bellen neurodevelopmental syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859219 Rauch-Steindl syndrome 'Rauch-Steindl syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859211 neurodevelopmental disorder with hyperkinetic movements and dyskinesia 'neurodevelopmental disorder with hyperkinetic movements and dyskinesia' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859207 neurodevelopmental disorder with hypotonia and gross motor and speech delay 'neurodevelopmental disorder with hypotonia and gross motor and speech delay' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0859204 fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies 'fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013724 bacteremia, susceptibility to, 2 'bacteremia, susceptibility to, 2' SubClassOf 'bacteremia, susceptibility' http://purl.obolibrary.org/obo/MONDO_0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'central nervous system malformation' 'hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism' SubClassOf 'hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome' '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 'primary bone dysplasia with increased bone density' http://purl.obolibrary.org/obo/MONDO_0013723 bacteremia, susceptibility to, 1 'bacteremia, susceptibility to, 1' SubClassOf 'bacteremia, susceptibility' http://purl.obolibrary.org/obo/MONDO_0013721 complement component 4a deficiency 'complement component 4a deficiency' SubClassOf 'classic complement early component deficiency' 'complement component 4a deficiency' SubClassOf 'immunodeficiency due to a classical component pathway complement deficiency' http://purl.obolibrary.org/obo/MONDO_0013741 familial temporal lobe epilepsy 5 'familial temporal lobe epilepsy 5' SubClassOf 'familial mesial temporal lobe epilepsy with febrile seizures' 'familial temporal lobe epilepsy 5' SubClassOf 'temporal lobe epilepsy' 'familial temporal lobe epilepsy 5' SubClassOf 'benign familial mesial temporal lobe epilepsy' http://purl.obolibrary.org/obo/MONDO_0023119 familial myelofibrosis 'familial myelofibrosis' SubClassOf 'primary myelofibrosis' http://purl.obolibrary.org/obo/HP_0006379 Proximal tibial hypoplasia 'Proximal tibial hypoplasia' SubClassOf 'Abnormality of the lower limb' 'Proximal tibial hypoplasia' SubClassOf 'Short long bone' http://purl.obolibrary.org/obo/MONDO_0013591 epiphyseal dysplasia, multiple, 6 'epiphyseal dysplasia, multiple, 6' SubClassOf 'multiple epiphyseal dysplasia due to collagen 9 anomaly' http://purl.obolibrary.org/obo/MONDO_0859376 hydrocephalus, congenital, 5, susceptibility to 'hydrocephalus, congenital, 5, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0859354 thyroid hormone metabolism, abnormal, 3 'thyroid hormone metabolism, abnormal, 3' SubClassOf 'thyroid hormone metabolism, abnormal' http://purl.obolibrary.org/obo/MONDO_0859345 branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 'branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859336 muscular dystrophy, congenital, with or without seizures 'muscular dystrophy, congenital, with or without seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0859317 pseudohypoaldosteronism, type IB2, autosomal recessive 'pseudohypoaldosteronism, type IB2, autosomal recessive' SubClassOf 'autosomal recessive disease' 'pseudohypoaldosteronism, type IB2, autosomal recessive' SubClassOf 'inherited pseudohypoaldosteronism' http://purl.obolibrary.org/obo/MONDO_0859300 Neuronopathy, distal hereditary motor, type X 'Neuronopathy, distal hereditary motor, type X' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0013601 gluthathione peroxidase deficiency 'gluthathione peroxidase deficiency' SubClassOf 'inborn errors of metabolism' 'gluthathione peroxidase deficiency' SubClassOf 'defective phagocytic cell engulfment' http://purl.obolibrary.org/obo/HP_0031207 Hepatic hemangioma 'Hepatic hemangioma' SubClassOf 'Abnormality of the liver' 'Hepatic hemangioma' SubClassOf 'Abnormality of the gastrointestinal tract' 'Hepatic hemangioma' SubClassOf 'Abnormality of the vasculature' http://purl.obolibrary.org/obo/MONDO_0013643 hyperuricemic nephropathy, familial juvenile type 3 'hyperuricemic nephropathy, familial juvenile type 3' SubClassOf 'familial juvenile hyperuricemic nephropathy' http://purl.obolibrary.org/obo/HP_0006278 Ectopic pancreatic tissue 'Ectopic pancreatic tissue' SubClassOf 'Abnormality of the abdominal organs' http://purl.obolibrary.org/obo/MONDO_0013657 intellectual disability, autosomal dominant 10 'intellectual disability, autosomal dominant 10' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/HP_0006538 Recurrent bronchopulmonary infections 'Recurrent bronchopulmonary infections' SubClassOf 'Recurrent respiratory infections' http://purl.obolibrary.org/obo/MONDO_0013534 apolipoprotein c-III deficiency 'apolipoprotein c-III deficiency' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0013547 mitochondrial complex V (ATP synthase) deficiency nuclear type 3 'mitochondrial complex V (ATP synthase) deficiency nuclear type 3' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency nuclear type 3' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0013575 plasma fibronectin deficiency 'plasma fibronectin deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013581 intellectual disability, autosomal dominant 2 'intellectual disability, autosomal dominant 2' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0013363 chromosome 2q31.1 duplication syndrome 'chromosome 2q31.1 duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 2' 'chromosome 2q31.1 duplication syndrome' SubClassOf 'mesomelic dysplasia, Kantaputra type' http://purl.obolibrary.org/obo/MONDO_0013378 orofacial cleft 10 'orofacial cleft 10' SubClassOf 'bearer_of' some 'has an isolated presentation' 'orofacial cleft 10' SubClassOf 'cleft lip/palate' 'orofacial cleft 10' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/HP_0006433 Radial dysplasia 'Radial dysplasia' SubClassOf 'Abnormal bone structure' 'Radial dysplasia' SubClassOf 'Abnormal upper limb bone morphology' http://purl.obolibrary.org/obo/HP_0031411 Abnormal chromosome morphology 'Abnormal chromosome morphology' SubClassOf 'Abnormal cellular phenotype' http://purl.obolibrary.org/obo/HP_0100024 Conspicuously happy disposition 'Conspicuously happy disposition' SubClassOf 'Happy demeanor' http://purl.obolibrary.org/obo/HP_0006482 Abnormal dental morphology 'Abnormal dental morphology' SubClassOf 'Abnormality of the dentition' http://purl.obolibrary.org/obo/MONDO_0013299 chromosome 6q11-q14 deletion syndrome 'chromosome 6q11-q14 deletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 6' http://purl.obolibrary.org/obo/MONDO_0013296 myeloid neoplasm associated with FGFR1 rearrangement 'myeloid neoplasm associated with FGFR1 rearrangement' SubClassOf 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' http://purl.obolibrary.org/obo/MONDO_0003948 cerebral hemangioma 'cerebral hemangioma' SubClassOf 'brain hemangioma' 'cerebral hemangioma' SubClassOf 'benign neoplasm of cerebrum' http://purl.obolibrary.org/obo/MONDO_0003982 bilateral breast carcinoma 'bilateral breast carcinoma' SubClassOf 'breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0013318 early repolarization associated with ventricular fibrillation 'early repolarization associated with ventricular fibrillation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013346 obsolete brain calcification, Rajab type 'obsolete brain calcification, Rajab type' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/CHEBI_61121 oxylipin 'oxylipin' SubClassOf 'fatty acid' http://purl.obolibrary.org/obo/MONDO_0013189 trichotillomania 'trichotillomania' SubClassOf 'impulse control disorder' 'trichotillomania' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0006625 Multifocal breast carcinoma 'Multifocal breast carcinoma' SubClassOf 'Abnormality of the breast' http://purl.obolibrary.org/obo/MONDO_0003813 ovarian papillary tumor 'ovarian papillary tumor' SubClassOf 'papillary epithelial neoplasm' 'ovarian papillary tumor' SubClassOf 'ovarian epithelial tumor' http://purl.obolibrary.org/obo/MONDO_0003874 ovarian serous surface papillary adenocarcinoma 'ovarian serous surface papillary adenocarcinoma' SubClassOf 'papillary adenocarcinoma' 'ovarian serous surface papillary adenocarcinoma' SubClassOf 'ovarian serous adenocarcinoma' 'ovarian serous surface papillary adenocarcinoma' SubClassOf 'ovarian papillary tumor' http://purl.obolibrary.org/obo/MONDO_0013214 bile acid malabsorption, primary, 1 'bile acid malabsorption, primary, 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008503 Worster-Drought syndrome 'Worster-Drought syndrome' SubClassOf 'disease has feature' some 'cerebral palsy' 'Worster-Drought syndrome' SubClassOf 'disease has feature' some 'progressive bulbar palsy' 'Worster-Drought syndrome' SubClassOf 'bearer_of' some 'rare' 'Worster-Drought syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0008533 teeth, supernumerary 'teeth, supernumerary' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008567 thyroid cancer, nonmedullary, 1 'thyroid cancer, nonmedullary, 1' SubClassOf 'papillary thyroid carcinoma' 'thyroid cancer, nonmedullary, 1' SubClassOf 'familial nonmedullary thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0008572 tibia, hypoplasia or aplasia of, with polydactyly 'tibia, hypoplasia or aplasia of, with polydactyly' SubClassOf 'non-syndromic limb reduction defect' http://purl.obolibrary.org/obo/HP_0031964 Elevated circulating alanine aminotransferase concentration 'Elevated circulating alanine aminotransferase concentration' SubClassOf 'Elevated hepatic transaminase' http://purl.obolibrary.org/obo/HP_0031936 Delayed ability to walk 'Delayed ability to walk' SubClassOf 'Delayed gross motor development' http://purl.obolibrary.org/obo/HP_0031960 Arm dystonia 'Arm dystonia' SubClassOf 'Dystonia' http://purl.obolibrary.org/obo/HP_0031956 Elevated circulating aspartate aminotransferase concentration 'Elevated circulating aspartate aminotransferase concentration' SubClassOf 'Elevated hepatic transaminase' 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 'inherited disease susceptibility' http://purl.obolibrary.org/obo/HP_0006931 Pericallosal lipoma 'Pericallosal lipoma' SubClassOf 'Abnormal adipose tissue morphology' 'Pericallosal lipoma' SubClassOf 'Abnormal corpus callosum morphology' http://purl.obolibrary.org/obo/MONDO_0008483 stuttering, familial persistent, 1 'stuttering, familial persistent, 1' SubClassOf 'stutter disorder' http://purl.obolibrary.org/obo/MONDO_0008498 strabismus, susceptibility to 'strabismus, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/HP_0006889 Intellectual disability, borderline 'Intellectual disability, borderline' SubClassOf 'Intellectual disability' http://purl.obolibrary.org/obo/HP_0100493 Hypoammonemia 'Hypoammonemia' SubClassOf 'Abnormal circulating nitrogen compound concentration' http://purl.obolibrary.org/obo/HP_0100030 Accessory ectopic thyroid tissue 'Accessory ectopic thyroid tissue' SubClassOf 'Abnormality of the thyroid gland' http://purl.obolibrary.org/obo/HP_0100035 Phonic tics 'Phonic tics' SubClassOf 'Tics' http://purl.obolibrary.org/obo/HP_0100036 Pseudo-fractures 'Pseudo-fractures' SubClassOf 'Abnormal bone structure' http://purl.obolibrary.org/obo/HP_0002003 Large forehead 'Large forehead' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/MONDO_0023910 Martsolf syndrome 'Martsolf syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0023961 visceral neuropathy, familial 'visceral neuropathy, familial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008355 pyloric stenosis, infantile hypertrophic, 1 'pyloric stenosis, infantile hypertrophic, 1' SubClassOf 'inherited hypertrophic pyloric stenosis' http://purl.obolibrary.org/obo/MONDO_0033368 developmental and epileptic encephalopathy, 59 'developmental and epileptic encephalopathy, 59' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0033364 developmental and epileptic encephalopathy, 55 'developmental and epileptic encephalopathy, 55' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 55' SubClassOf 'congenital nervous system disorder' 'developmental and epileptic encephalopathy, 55' SubClassOf 'congenital disorder of glycosylation' 'developmental and epileptic encephalopathy, 55' SubClassOf 'inherited lipid metabolism disorder' 'developmental and epileptic encephalopathy, 55' SubClassOf 'disorder of GPI anchor biosynthesis' http://purl.obolibrary.org/obo/MONDO_0033371 developmental and epileptic encephalopathy, 62 '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' http://purl.obolibrary.org/obo/MONDO_0008290 porokeratosis 1, Mibelli type 'porokeratosis 1, Mibelli type' SubClassOf 'porokeratosis of Mibelli' http://purl.obolibrary.org/obo/HP_0002246 Abnormal duodenum morphology 'Abnormal duodenum morphology' SubClassOf 'Abnormal intestine morphology' http://purl.obolibrary.org/obo/CHEBI_72606 11-HETE '11-HETE' SubClassOf 'HETE' http://purl.obolibrary.org/obo/HP_0002211 White forelock 'White forelock' SubClassOf 'Abnormality of the integument' http://purl.obolibrary.org/obo/HP_0002188 Delayed CNS myelination 'Delayed CNS myelination' SubClassOf 'Morphological central nervous system abnormality' 'Delayed CNS myelination' SubClassOf 'Delayed myelination' http://purl.obolibrary.org/obo/HP_0100731 Transverse facial cleft 'Transverse facial cleft' SubClassOf 'Abnormality of mouth shape' http://purl.obolibrary.org/obo/HP_0100736 Abnormal soft palate morphology 'Abnormal soft palate morphology' SubClassOf 'Abnormality of the mouth' http://purl.obolibrary.org/obo/HP_0100765 Abnormality of the tonsils 'Abnormality of the tonsils' SubClassOf 'Abnormality of the lymphatic system' http://purl.obolibrary.org/obo/MONDO_0008004 familial mitral valve prolapse 'familial mitral valve prolapse' SubClassOf 'inherited mitral valve disease' 'familial mitral valve prolapse' EquivalentTo 'mitral valve prolapse' and ('bearer_of' some 'inherited') 'familial mitral valve prolapse' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' 'familial mitral valve prolapse' SubClassOf 'hereditary cardiac anomaly' 'familial mitral valve prolapse' SubClassOf 'mitral valve prolapse' http://purl.obolibrary.org/obo/MONDO_0023655 immunodeficiency 14b, autosomal recessive 'immunodeficiency 14b, autosomal recessive' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0008040 transient myeloproliferative syndrome 'transient myeloproliferative syndrome' SubClassOf 'chronic myeloproliferative disorder' 'transient myeloproliferative syndrome' SubClassOf 'disease arises from feature' some 'Down syndrome' http://purl.obolibrary.org/obo/MONDO_0023657 intellectual developmental disorder, autosomal dominant 65 'intellectual developmental disorder, autosomal dominant 65' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0008070 nemaline myopathy 3 'nemaline myopathy 3' SubClassOf 'severe congenital nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'intermediate nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'typical nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'childhood-onset nemaline myopathy' 'nemaline myopathy 3' SubClassOf 'alpha-actinopathy' http://www.ebi.ac.uk/efo/EFO_0022419 DBA 'DBA' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022412 SJL 'SJL' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022477 NOD/ShiLt 'NOD/ShiLt' SubClassOf 'NOD/Shi' http://www.ebi.ac.uk/efo/EFO_0022476 NOR1/Lt 'NOR1/Lt' SubClassOf 'NOR' http://www.ebi.ac.uk/efo/EFO_0022479 129T2/SvEmsJ '129T2/SvEmsJ' SubClassOf '129 mouse strain' http://www.ebi.ac.uk/efo/EFO_0022478 BXD 'BXD' SubClassOf 'recombinant inbred strain' http://www.ebi.ac.uk/efo/EFO_0022473 129S/Sv '129S/Sv' SubClassOf '129 mouse strain' http://www.ebi.ac.uk/efo/EFO_0022472 CFW 'CFW' SubClassOf 'Mus musculus' http://purl.obolibrary.org/obo/HP_0002421 Poor head control 'Poor head control' SubClassOf 'Muscle weakness' http://www.ebi.ac.uk/efo/EFO_0022475 NOR/LtJ 'NOR/LtJ' SubClassOf 'NOR1/Lt' http://www.ebi.ac.uk/efo/EFO_0022474 129S2/SvPas '129S2/SvPas' SubClassOf '129S/Sv' http://www.ebi.ac.uk/efo/EFO_0022471 NOR 'NOR' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022470 NOD/Shi 'NOD/Shi' SubClassOf 'NOD mouse' http://www.ebi.ac.uk/efo/EFO_0022469 DBA/1LacJ 'DBA/1LacJ' SubClassOf 'DBA' http://www.ebi.ac.uk/efo/EFO_0022466 A/HeJ 'A/HeJ' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022465 C3HeB/FeJ 'C3HeB/FeJ' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022468 C3H 'C3H' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022467 FVB/N 'FVB/N' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022464 C3H/He 'C3H/He' SubClassOf 'C3H' http://www.ebi.ac.uk/efo/EFO_0022463 CBA 'CBA' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022487 rare syndromic intellectual disability 'rare syndromic intellectual disability' SubClassOf 'Rare genetic intellectual disability' http://www.ebi.ac.uk/efo/EFO_0022484 MMTV-PyMT 'MMTV-PyMT' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022483 FVB 'FVB' SubClassOf 'Mus musculus' http://www.ebi.ac.uk/efo/EFO_0022486 tp63-related spectrum disorders 'tp63-related spectrum disorders' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0022485 paragangliomas with sensorineural hearing loss 'paragangliomas with sensorineural hearing loss' SubClassOf 'sensorineural hearing loss' 'paragangliomas with sensorineural hearing loss' SubClassOf 'paragangliomas 1' 'paragangliomas with sensorineural hearing loss' SubClassOf 'inherited auditory system disease' http://www.ebi.ac.uk/efo/EFO_0022480 129P3/J '129P3/J' SubClassOf '129 mouse strain' http://www.ebi.ac.uk/efo/EFO_0022482 129S/SvEv '129S/SvEv' SubClassOf '129S/Sv' http://www.ebi.ac.uk/efo/EFO_0022481 decreased risk 'decreased risk' SubClassOf 'risk factor' http://www.ebi.ac.uk/efo/EFO_0022396 TruSeq 'TruSeq' SubClassOf 'RNA assay' http://www.ebi.ac.uk/efo/EFO_0022395 C57BL/10J 'C57BL/10J' SubClassOf 'C57BL/10' http://www.ebi.ac.uk/efo/EFO_0022397 C57BL/6 'C57BL/6' SubClassOf 'C57BL' http://www.ebi.ac.uk/efo/EFO_0022385 Long Evans 'Long Evans' SubClassOf 'Rattus norvegicus' http://www.ebi.ac.uk/efo/EFO_0022387 SJL/J 'SJL/J' SubClassOf 'SJL' http://purl.obolibrary.org/obo/HP_0002339 Abnormal caudate nucleus morphology 'Abnormal caudate nucleus morphology' SubClassOf 'Abnormal basal ganglia morphology' http://purl.obolibrary.org/obo/HP_0002305 Athetosis 'Athetosis' SubClassOf 'Abnormality of movement' 'Athetosis' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/HP_0002312 Clumsiness 'Clumsiness' SubClassOf 'Abnormal central motor function' http://purl.obolibrary.org/obo/HP_0002310 Orofacial dyskinesia 'Orofacial dyskinesia' SubClassOf 'Abnormality of movement' http://purl.obolibrary.org/obo/HP_0002334 Abnormal cerebellar vermis morphology 'Abnormal cerebellar vermis morphology' SubClassOf 'Abnormal brain morphology' http://purl.obolibrary.org/obo/HP_0100629 Midline facial cleft 'Midline facial cleft' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/HP_0100694 Tibial torsion 'Tibial torsion' SubClassOf 'Abnormal skeletal morphology' 'Tibial torsion' SubClassOf 'Abnormality of the lower limb' http://purl.obolibrary.org/obo/MONDO_0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome 'X-linked intellectual disability-hypotonia-movement disorder syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018702 Castleman-Kojima disease 'Castleman-Kojima disease' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0018733 intellectual disability syndrome due to a DYRK1A point mutation 'intellectual disability syndrome due to a DYRK1A point mutation' SubClassOf 'DYRK1A-related intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0018734 verrucous hemangioma 'verrucous hemangioma' SubClassOf 'bearer_of' some 'rare' 'verrucous hemangioma' SubClassOf 'skin hemangioma' http://purl.obolibrary.org/obo/MONDO_0018752 exercise-induced malignant hyperthermia 'exercise-induced malignant hyperthermia' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/HP_0012018 EEG with temporal focal spikes 'EEG with temporal focal spikes' SubClassOf 'Interictal epileptiform activity' http://purl.obolibrary.org/obo/MONDO_0018763 tubulinopathy-associated dysgyria 'tubulinopathy-associated dysgyria' SubClassOf 'tubulinopathy' 'tubulinopathy-associated dysgyria' SubClassOf 'central nervous system malformation' 'tubulinopathy-associated dysgyria' SubClassOf 'disease has major feature' some 'central nervous system malformation' http://purl.obolibrary.org/obo/HP_0012052 Low serum calcitriol 'Low serum calcitriol' SubClassOf 'Abnormality of vitamin metabolism' http://purl.obolibrary.org/obo/HP_0002518 Abnormal periventricular white matter morphology 'Abnormal periventricular white matter morphology' SubClassOf 'Leukoencephalopathy' 'Abnormal periventricular white matter morphology' SubClassOf 'Abnormal cerebral white matter morphology' http://purl.obolibrary.org/obo/HP_0002516 Increased intracranial pressure 'Increased intracranial pressure' SubClassOf 'Abnormal nervous system physiology' http://purl.obolibrary.org/obo/HP_0002546 Incomprehensible speech 'Incomprehensible speech' SubClassOf 'Abnormality of speech or vocalization' http://purl.obolibrary.org/obo/HP_0002557 Hypoplastic nipples 'Hypoplastic nipples' SubClassOf 'Abnormality of the breast' http://purl.obolibrary.org/obo/MONDO_0018507 microcephaly-complex motor and sensory axonal neuropathy syndrome 'microcephaly-complex motor and sensory axonal neuropathy syndrome' SubClassOf 'axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/HP_0002850 Decreased circulating total IgM 'Decreased circulating total IgM' SubClassOf 'Abnormality of the immune system' 'Decreased circulating total IgM' SubClassOf 'Abnormality of blood and blood-forming tissues' 'Decreased circulating total IgM' SubClassOf 'Abnormal cellular physiology' http://purl.obolibrary.org/obo/HP_0012294 Abnormal occipital bone morphology 'Abnormal occipital bone morphology' SubClassOf 'Abnormal skull morphology' http://purl.obolibrary.org/obo/MONDO_0018579 disorder of ketone body transport 'disorder of ketone body transport' SubClassOf 'disorder of fatty acid and ketone body metabolism' http://purl.obolibrary.org/obo/HP_0012244 Abnormal sex determination 'Abnormal sex determination' SubClassOf 'Abnormality of the genital system' http://purl.obolibrary.org/obo/MONDO_0018593 primary polyarteritis nodosa 'primary polyarteritis nodosa' SubClassOf 'polyarteritis nodosa' http://purl.obolibrary.org/obo/MONDO_0018592 cutaneous polyarteritis nodosa 'cutaneous polyarteritis nodosa' SubClassOf 'primary polyarteritis nodosa' http://purl.obolibrary.org/obo/HP_0012187 Increased erythrocyte protoporphyrin concentration 'Increased erythrocyte protoporphyrin concentration' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0012169 Self-biting 'Self-biting' SubClassOf 'Self-injurious behavior' http://purl.obolibrary.org/obo/HP_0002783 Recurrent lower respiratory tract infections 'Recurrent lower respiratory tract infections' SubClassOf 'Recurrent respiratory infections' http://purl.obolibrary.org/obo/MONDO_0018467 nephropathic infantile cystinosis 'nephropathic infantile cystinosis' SubClassOf 'nephropathic cystinosis' 'nephropathic infantile cystinosis' SubClassOf 'inborn disorder of amino acid transport' http://purl.obolibrary.org/obo/HP_0012434 Delayed early-childhood social milestone development 'Delayed early-childhood social milestone development' SubClassOf 'Neurodevelopmental delay' 'Delayed early-childhood social milestone development' SubClassOf 'Atypical behavior' http://purl.obolibrary.org/obo/HP_0012426 Optic disc drusen 'Optic disc drusen' SubClassOf 'Abnormal retinal morphology' http://purl.obolibrary.org/obo/HP_0012499 Descending aortic dissection 'Descending aortic dissection' SubClassOf 'Aortic dissection' http://purl.obolibrary.org/obo/HP_0012328 Cementoma 'Cementoma' SubClassOf 'Abnormality of the dentition' http://purl.obolibrary.org/obo/MONDO_0008834 asthma, nasal polyps, and aspirin intolerance 'asthma, nasal polyps, and aspirin intolerance' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008860 beta-aminoisobutyric acid, urinary excretion of 'beta-aminoisobutyric acid, urinary excretion of' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0012358 Abnormal protein O-linked glycosylation 'Abnormal protein O-linked glycosylation' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/HP_0002926 Abnormality of thyroid physiology 'Abnormality of thyroid physiology' SubClassOf 'Abnormality of the thyroid gland' http://purl.obolibrary.org/obo/HP_0012668 Vasovagal syncope 'Vasovagal syncope' SubClassOf 'Syncope' http://purl.obolibrary.org/obo/HP_0012646 Retractile testis 'Retractile testis' SubClassOf 'Abnormal testis morphology' http://purl.obolibrary.org/obo/MONDO_0008738 aganglionosis, total intestinal 'aganglionosis, total intestinal' SubClassOf 'genetic disorder' 'aganglionosis, total intestinal' SubClassOf 'disease shares features of' some 'Hirschsprung disease' http://purl.obolibrary.org/obo/MONDO_0043195 Rubinstein Taybi like syndrome 'Rubinstein Taybi like syndrome' SubClassOf 'syndromic disease' 'Rubinstein Taybi like syndrome' SubClassOf 'disease shares features of' some 'Rubinstein-Taybi syndrome' http://purl.obolibrary.org/obo/MONDO_0008637 bifid uvula 'bifid uvula' SubClassOf 'cleft palate' http://purl.obolibrary.org/obo/MONDO_0008654 nystagmus 4, congenital, autosomal dominant 'nystagmus 4, congenital, autosomal dominant' SubClassOf 'congenital nystagmus' http://purl.obolibrary.org/obo/MONDO_0033642 neurodevelopmental disorder with alopecia and brain abnormalities 'neurodevelopmental disorder with alopecia and brain abnormalities' SubClassOf 'disorder of polyamine metabolism' 'neurodevelopmental disorder with alopecia and brain abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0018004 acute megakaryoblastic leukemia without down syndrome 'acute megakaryoblastic leukemia without down syndrome' SubClassOf 'acute megakaryoblastic leukaemia' http://purl.obolibrary.org/obo/MONDO_0033641 cleft palate, proliferative retinopathy, and developmental delay 'cleft palate, proliferative retinopathy, and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018017 goblet cell carcinoma 'goblet cell carcinoma' SubClassOf 'combined carcinoid and adenocarcinoma' 'goblet cell carcinoma' SubClassOf 'appendix carcinoma' 'goblet cell carcinoma' SubClassOf 'neuroendocrine carcinoma' 'goblet cell carcinoma' SubClassOf 'neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade' http://purl.obolibrary.org/obo/MONDO_0033631 combined oxidative phosphorylation deficiency 51 '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' http://purl.obolibrary.org/obo/MONDO_0033662 neurodevelopmental disorder with microcephaly, seizures, and brain atrophy 'neurodevelopmental disorder with microcephaly, seizures, and brain atrophy' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0033658 neurodevelopmental disorder with seizures and brain atrophy 'neurodevelopmental disorder with seizures and brain atrophy' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0033657 leukodystrophy, hypomyelinating, 20 'leukodystrophy, hypomyelinating, 20' SubClassOf 'leukodystrophy' http://purl.obolibrary.org/obo/MONDO_0851095 KINSSHIP syndrome 'KINSSHIP syndrome' SubClassOf 'autosomal dominant disease' 'KINSSHIP syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018055 pediatric hepatocellular carcinoma 'pediatric hepatocellular carcinoma' SubClassOf 'hepatocellular carcinoma' 'pediatric hepatocellular carcinoma' SubClassOf 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0033670 hearing loss, autosomal recessive 116 'hearing loss, autosomal recessive 116' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0014357 intellectual disability, autosomal dominant 24 'intellectual disability, autosomal dominant 24' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/HP_0012856 Abnormal scrotal rugation 'Abnormal scrotal rugation' SubClassOf 'Abnormality of the genital system' 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 'mesomelic and rhizo-mesomelic dysplasia' http://purl.obolibrary.org/obo/HP_0012810 Wide nasal base 'Wide nasal base' SubClassOf 'Abnormality of the nose' http://purl.obolibrary.org/obo/HP_0012809 Narrow nasal base 'Narrow nasal base' SubClassOf 'Abnormality of the nose' http://purl.obolibrary.org/obo/MONDO_0014249 multiple fibroadenoma of the breast 'multiple fibroadenoma of the breast' SubClassOf 'bearer_of' some 'rare' 'multiple fibroadenoma of the breast' SubClassOf 'breast benign neoplasm' 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 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0004910 mitral valve prolapse 'mitral valve prolapse' SubClassOf 'mitral valve disease' http://purl.obolibrary.org/obo/MONDO_0004763 carotid artery dissection 'carotid artery dissection' SubClassOf 'carotid artery disease' http://purl.obolibrary.org/obo/MONDO_0004653 atypical chronic myeloid leukemia, BCR-ABL1 negative 'atypical chronic myeloid leukemia, BCR-ABL1 negative' SubClassOf 'myelodysplastic/myeloproliferative disease' 'atypical chronic myeloid leukemia, BCR-ABL1 negative' SubClassOf 'myeloid leukemia' 'atypical chronic myeloid leukemia, BCR-ABL1 negative' SubClassOf 'Myelodysplastic/Myeloproliferative Neoplasm' 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' http://purl.obolibrary.org/obo/MONDO_0014091 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 'mitochondrial complex V (ATP synthase) deficiency nuclear type 4' SubClassOf 'mitochondrial complex deficiency' 'mitochondrial complex V (ATP synthase) deficiency nuclear type 4' SubClassOf 'combined oxidative phosphorylation deficiency 22' http://purl.obolibrary.org/obo/MONDO_0014090 polydactyly, postaxial, type A6 'polydactyly, postaxial, type A6' SubClassOf 'postaxial polydactyly type A' http://purl.obolibrary.org/obo/MONDO_0014098 CIDEC-related familial partial lipodystrophy 'CIDEC-related familial partial lipodystrophy' SubClassOf 'familial partial lipodystrophy' http://purl.obolibrary.org/obo/MONDO_0004743 hyperhomocysteinemia 'hyperhomocysteinemia' SubClassOf 'homocystinuria' http://purl.obolibrary.org/obo/HP_0032059 Mild malformation of cortical development 'Mild malformation of cortical development' SubClassOf 'Abnormal brain morphology' http://purl.obolibrary.org/obo/HP_0007069 Profound static encephalopathy 'Profound static encephalopathy' SubClassOf 'Encephalopathy' http://purl.obolibrary.org/obo/HP_0007023 Antenatal intracerebral hemorrhage 'Antenatal intracerebral hemorrhage' SubClassOf 'Abnormal bleeding' 'Antenatal intracerebral hemorrhage' SubClassOf 'Abnormality of blood circulation' 'Antenatal intracerebral hemorrhage' SubClassOf 'Abnormal cerebral vascular morphology' http://purl.obolibrary.org/obo/MONDO_0004450 carotid artery occlusion 'carotid artery occlusion' SubClassOf 'carotid artery disease' 'carotid artery occlusion' SubClassOf 'occlusion precerebral artery' http://purl.obolibrary.org/obo/MONDO_0004361 adult spinal cord ependymoma 'adult spinal cord ependymoma' SubClassOf 'spinal cord ependymoma' http://purl.obolibrary.org/obo/HP_0007263 Spinocerebellar atrophy 'Spinocerebellar atrophy' SubClassOf 'Cerebellar atrophy' 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 'congenital nervous system disorder' 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'central nervous system malformation' 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0018832 HTRA1-related autosomal dominant cerebral small vessel disease 'HTRA1-related autosomal dominant cerebral small vessel disease' SubClassOf 'HTRA1-related cerebral small vessel disease' http://purl.obolibrary.org/obo/HP_0007100 Progressive ventriculomegaly 'Progressive ventriculomegaly' SubClassOf 'Ventriculomegaly' http://purl.obolibrary.org/obo/HP_0007410 Palmoplantar hyperhidrosis 'Palmoplantar hyperhidrosis' SubClassOf 'Abnormality of the upper limb' 'Palmoplantar hyperhidrosis' SubClassOf 'Abnormal skin morphology' 'Palmoplantar hyperhidrosis' SubClassOf 'Hyperhidrosis' 'Palmoplantar hyperhidrosis' SubClassOf 'Abnormal foot morphology' http://purl.obolibrary.org/obo/HP_0007429 Few cafe-au-lait spots 'Few cafe-au-lait spots' SubClassOf 'Cafe-au-lait spot' http://purl.obolibrary.org/obo/MONDO_0009010 aortic arch interruption 'aortic arch interruption' SubClassOf 'aortic malformation' http://purl.obolibrary.org/obo/MONDO_0010040 ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability 'ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0024686 tenosynovial giant cell tumor, diffuse type 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'Tenosynovial Giant Cell Tumor' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'benign synovial neoplasm' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'rheumatic disease' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'synovitis' 'tenosynovial giant cell tumor, diffuse type' SubClassOf 'bone benign neoplasm' http://purl.obolibrary.org/obo/HP_0032367 Abnormal growth hormone level 'Abnormal growth hormone level' SubClassOf 'Abnormal circulating hormone concentration' http://purl.obolibrary.org/obo/MONDO_0024521 aortic aneurysm, familial abdominal, 1 'aortic aneurysm, familial abdominal, 1' SubClassOf 'familial abdominal aortic aneurysm' http://purl.obolibrary.org/obo/MONDO_0024522 amyloidosis, primary localized cutaneous, 1 'amyloidosis, primary localized cutaneous, 1' SubClassOf 'familial primary localized cutaneous amyloidosis' http://purl.obolibrary.org/obo/MONDO_0024560 PDA1 'PDA1' SubClassOf 'familial patent arterial duct' http://purl.obolibrary.org/obo/MONDO_0000440 metabolic acidosis 'metabolic acidosis' SubClassOf 'acidosis' http://purl.obolibrary.org/obo/HP_0032660 Convulsive status epilepticus 'Convulsive status epilepticus' SubClassOf 'Bilateral tonic-clonic seizure' http://purl.obolibrary.org/obo/MONDO_0000483 oculogyric crisis 'oculogyric crisis' SubClassOf 'focal dystonia' http://purl.obolibrary.org/obo/HP_0032647 Renal tubular epithelial cell apoptosis 'Renal tubular epithelial cell apoptosis' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/MONDO_0014906 Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; 'Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0014918 tall stature-intellectual disability-renal anomalies syndrome 'tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'tall stature-intellectual disability-renal anomalies syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014922 myofibrillar myopathy 7 'myofibrillar myopathy 7' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/MONDO_0014921 developmental and epileptic encephalopathy, 43 'developmental and epileptic encephalopathy, 43' SubClassOf 'Lennox-Gastaut syndrome' http://purl.obolibrary.org/obo/MONDO_0014920 patterned macular dystrophy 3 'patterned macular dystrophy 3' SubClassOf 'patterned macular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014933 developmental and epileptic encephalopathy, 44 'developmental and epileptic encephalopathy, 44' SubClassOf 'neonatal-onset developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 44' SubClassOf 'undetermined early-onset epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014947 developmental and epileptic encephalopathy, 46 'developmental and epileptic encephalopathy, 46' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 46' SubClassOf 'neonatal-onset developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014942 developmental and epileptic encephalopathy, 45 'developmental and epileptic encephalopathy, 45' SubClassOf 'undetermined early-onset epileptic encephalopathy' 'developmental and epileptic encephalopathy, 45' SubClassOf 'neonatal-onset developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0014951 intellectual developmental disorder, autosomal recessive 74 'intellectual developmental disorder, autosomal recessive 74' SubClassOf 'overgrowth or tall stature syndrome with skeletal involvement' 'intellectual developmental disorder, autosomal recessive 74' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014955 RCBTB1-related retinopathy 'RCBTB1-related retinopathy' SubClassOf 'reticular dystrophy of the retinal pigment epithelium' http://purl.obolibrary.org/obo/MONDO_0014952 intellectual disability-epilepsy-extrapyramidal syndrome 'intellectual disability-epilepsy-extrapyramidal syndrome' SubClassOf 'syndromic disease' 'intellectual disability-epilepsy-extrapyramidal syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014969 isolated sedoheptulokinase deficiency 'isolated sedoheptulokinase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0014984 lung disease, immunodeficiency, and chromosome breakage syndrome; 'lung disease, immunodeficiency, and chromosome breakage syndrome;' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014987 Fanconi anemia complementation group U 'Fanconi anemia complementation group U' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0014986 Fanconi anemia complementation group R 'Fanconi anemia complementation group R' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0014985 Fanconi anemia complementation group V 'Fanconi anemia complementation group V' SubClassOf 'Fanconi anemia' http://purl.obolibrary.org/obo/MONDO_0024304 ichthyosis vulgaris 'ichthyosis vulgaris' SubClassOf 'inherited non-syndromic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0700122 PBRM1-related BAFopathy 'PBRM1-related BAFopathy' SubClassOf 'BAFopathy' http://purl.obolibrary.org/obo/MONDO_0700121 ACTL6A-related BAFopathy 'ACTL6A-related BAFopathy' SubClassOf 'BAFopathy' http://purl.obolibrary.org/obo/MONDO_0024189 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0007932 Bilateral congenital mydriasis 'Bilateral congenital mydriasis' SubClassOf 'Mydriasis' http://purl.obolibrary.org/obo/MONDO_0014800 progressive scapulohumeroperoneal distal myopathy 'progressive scapulohumeroperoneal distal myopathy' SubClassOf 'alpha-actinopathy' 'progressive scapulohumeroperoneal distal myopathy' SubClassOf 'progressive muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014816 split-foot malformation-mesoaxial polydactyly syndrome 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'ectrodactyly with and without other manifestations' 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'dysostosis of genetic origin' 'split-foot malformation-mesoaxial polydactyly syndrome' SubClassOf 'congenital limb malformation' http://purl.obolibrary.org/obo/MONDO_0014811 cerebellar atrophy, visual impairment, and psychomotor retardation; 'cerebellar atrophy, visual impairment, and psychomotor retardation;' SubClassOf 'Mendelian neurodevelopmental disorder' 'cerebellar atrophy, visual impairment, and psychomotor retardation;' SubClassOf 'complex neurodevelopmental disorder with motor features' http://purl.obolibrary.org/obo/MONDO_0014855 intellectual disability, autosomal dominant 42 'intellectual disability, autosomal dominant 42' SubClassOf 'autosomal dominant non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014869 hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 'hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome' SubClassOf 'mitochondrial oxidative phosphorylation disorder' http://purl.obolibrary.org/obo/MONDO_0700060 leukemia, acute, X-linked 'leukemia, acute, X-linked' SubClassOf 'Acute Leukemia' 'leukemia, acute, X-linked' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0014872 congenital stationary night blindness 1H 'congenital stationary night blindness 1H' SubClassOf 'congenital stationary night blindness' http://purl.obolibrary.org/obo/MONDO_0014870 NEK9-related lethal skeletal dysplasia 'NEK9-related lethal skeletal dysplasia' SubClassOf 'short rib dysplasia' 'NEK9-related lethal skeletal dysplasia' SubClassOf 'lethal congenital contracture syndrome' 'NEK9-related lethal skeletal dysplasia' SubClassOf 'thoracic malformation' http://purl.obolibrary.org/obo/MONDO_0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 'severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf 'hyperpigmentation of the skin' 'severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014881 transketolase deficiency 'transketolase deficiency' SubClassOf 'heart disease' 'transketolase deficiency' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'transketolase deficiency' SubClassOf 'developmental anomaly of metabolic origin' 'transketolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0700044 TUBB2A-related tubulinopathy 'TUBB2A-related tubulinopathy' SubClassOf 'tubulinopathy' 'TUBB2A-related tubulinopathy' SubClassOf 'complex neurodevelopmental disorder with motor features' http://purl.obolibrary.org/obo/MONDO_0014896 congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome 'congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome' SubClassOf 'congenital muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0014891 hyperuricemic nephropathy, familial juvenile type 4 'hyperuricemic nephropathy, familial juvenile type 4' SubClassOf 'familial juvenile hyperuricemic nephropathy' 'hyperuricemic nephropathy, familial juvenile type 4' SubClassOf 'SEC61A1 deficiency' http://purl.obolibrary.org/obo/MONDO_0014682 thyroid cancer, nonmedullary, 5 'thyroid cancer, nonmedullary, 5' SubClassOf 'familial papillary or follicular thyroid carcinoma' 'thyroid cancer, nonmedullary, 5' SubClassOf 'follicular thyroid carcinoma' http://purl.obolibrary.org/obo/MONDO_0014699 intellectual disability, autosomal dominant 40 'intellectual disability, autosomal dominant 40' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/HP_0007802 Granular corneal dystrophy 'Granular corneal dystrophy' SubClassOf 'Abnormal cornea morphology' http://purl.obolibrary.org/obo/HP_0007728 Congenital miosis 'Congenital miosis' SubClassOf 'Miosis' http://purl.obolibrary.org/obo/HP_0007738 Uncontrolled eye movements 'Uncontrolled eye movements' SubClassOf 'Abnormality of the eye' http://purl.obolibrary.org/obo/MONDO_0014702 autosomal recessive complex spastic paraplegia type 9B 'autosomal recessive complex spastic paraplegia type 9B' SubClassOf 'P5CS deficiency' 'autosomal recessive complex spastic paraplegia type 9B' SubClassOf 'bearer_of' some 'rare' 'autosomal recessive complex spastic paraplegia type 9B' SubClassOf 'autosomal recessive complex spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014719 developmental and epileptic encephalopathy, 35 'developmental and epileptic encephalopathy, 35' SubClassOf 'inherited neurodegenerative disorder' 'developmental and epileptic encephalopathy, 35' SubClassOf 'developmental and epileptic encephalopathy' 'developmental and epileptic encephalopathy, 35' SubClassOf 'inborn disorder of purine metabolism' http://purl.obolibrary.org/obo/MONDO_0014723 PMP22-RAI1 contiguous gene duplication syndrome 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome 17' 'PMP22-RAI1 contiguous gene duplication syndrome' SubClassOf 'autosomal dominant hereditary demyelinating motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0014735 Charcot-Marie-Tooth disease type 2Y 'Charcot-Marie-Tooth disease type 2Y' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0000105 anemia, nonspherocytic hemolytic 'anemia, nonspherocytic hemolytic' SubClassOf 'congenital nonspherocytic hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 'progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'congenital nervous system disorder' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'developmental defect of the eye' 'familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0014744 acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 'acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf 'autosomal recessive syndromic cerebellar ataxia' 'acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf 'acute disease' 'acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome' SubClassOf 'hereditary parenchymatous liver disease' http://purl.obolibrary.org/obo/MONDO_0014754 primary coenzyme Q10 deficiency 8 'primary coenzyme Q10 deficiency 8' SubClassOf 'coenzyme Q10 deficiency' http://purl.obolibrary.org/obo/MONDO_0014760 TFRC-related combined immunodeficiency 'TFRC-related combined immunodeficiency' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0014772 orofacial cleft 15 'orofacial cleft 15' SubClassOf 'cleft lip/palate' 'orofacial cleft 15' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 'severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome' SubClassOf 'congenital myopathy' 'severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome' SubClassOf 'heart disease' http://purl.obolibrary.org/obo/MONDO_0014787 severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome' SubClassOf 'congenital nervous system disorder' '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 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome 'microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf 'bearer_of' some 'rare' 'microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf 'sterol biosynthesis disorder' 'microcephaly-congenital cataract-psoriasiform dermatitis syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'isolated punctate palmoplantar keratoderma' 'peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome' SubClassOf 'inherited non-syndromic ichthyosis' http://purl.obolibrary.org/obo/MONDO_0014592 microcephaly and chorioretinopathy 3 'microcephaly and chorioretinopathy 3' SubClassOf 'microcephaly and chorioretinopathy' http://purl.obolibrary.org/obo/MONDO_0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 'microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'autosomal dominant disease' 'microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 'intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf 'syndromic intellectual disability' 'intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf 'congenital nervous system disorder' 'intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014631 hypomagnesemia, seizures, and intellectual disability 'hypomagnesemia, seizures, and intellectual disability' SubClassOf 'familial primary hypomagnesemia with normocalciuria and normocalcemia' http://purl.obolibrary.org/obo/MONDO_0014467 Charcot-Marie-Tooth disease recessive intermediate D 'Charcot-Marie-Tooth disease recessive intermediate D' SubClassOf 'mitochondrial oxidative phosphorylation disorder' 'Charcot-Marie-Tooth disease recessive intermediate D' SubClassOf 'autosomal recessive intermediate Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 'nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf 'hyperpigmentation of the skin' 'nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf 'ectodermal dysplasia syndrome' 'nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014492 wooly hair-palmoplantar keratoderma syndrome 'wooly hair-palmoplantar keratoderma syndrome' SubClassOf 'focal palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency 'ketoacidosis due to monocarboxylate transporter-1 deficiency' SubClassOf 'disorder of ketone body transport' http://purl.obolibrary.org/obo/HP_0007992 Lattice retinal degeneration 'Lattice retinal degeneration' SubClassOf 'Abnormal retinal morphology' http://purl.obolibrary.org/obo/MONDO_0014503 autosomal recessive spinocerebellar ataxia 17 'autosomal recessive spinocerebellar ataxia 17' SubClassOf 'autosomal recessive congenital cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0014523 juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 'juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome' SubClassOf 'hereditary ataxia' http://purl.obolibrary.org/obo/MONDO_0014552 lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'congenital nervous system disorder' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'arthrogryposis multiplex congenita' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'central nervous system malformation' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'Meckel syndrome' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'syndromic urogenital tract malformation' 'lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome' SubClassOf 'disease has major feature' some 'central nervous system malformation' http://purl.obolibrary.org/obo/MONDO_0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 'progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf 'inborn disorder of amino acid transport' 'progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf 'movement disorder' 'progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009842 Pelger-Huet-like anomaly and episodic fever with abdominal pain 'Pelger-Huet-like anomaly and episodic fever with abdominal pain' SubClassOf 'autoinflammatory syndrome' 'Pelger-Huet-like anomaly and episodic fever with abdominal pain' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0010838 gonadal agenesis 'gonadal agenesis' SubClassOf 'genetic disorder' 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 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0010863 type 1 diabetes mellitus 5 'type 1 diabetes mellitus 5' SubClassOf 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' http://purl.obolibrary.org/obo/MONDO_8000011 visceral neuropathy, familial, 1, autosomal recessive 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'neuronal intestinal dysplasia' 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'visceral neuropathy, familial' 'visceral neuropathy, familial, 1, autosomal recessive' SubClassOf 'chronic intestinal pseudoobstruction' http://purl.obolibrary.org/obo/MONDO_8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1' SubClassOf 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset' 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0003071 Flattened epiphysis 'Flattened epiphysis' SubClassOf 'Abnormal long bone morphology' http://purl.obolibrary.org/obo/HP_0400004 Long ear 'Long ear' SubClassOf 'Abnormal pinna morphology' http://purl.obolibrary.org/obo/MONDO_0010737 spondyloepiphyseal dysplasia tarda, X-linked 'spondyloepiphyseal dysplasia tarda, X-linked' SubClassOf 'X-linked disease' 'spondyloepiphyseal dysplasia tarda, X-linked' SubClassOf 'spondyloepiphyseal dysplasia tarda' http://purl.obolibrary.org/obo/MONDO_0009762 nystagmus, congenital, autosomal recessive 'nystagmus, congenital, autosomal recessive' SubClassOf 'congenital nystagmus' http://purl.obolibrary.org/obo/MONDO_0010776 hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial 'hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010791 myoglobinuria, recurrent 'myoglobinuria, recurrent' SubClassOf 'hereditary myoglobinuria' 'myoglobinuria, recurrent' SubClassOf 'hereditary recurrent myoglobinuria' 'myoglobinuria, recurrent' SubClassOf 'hereditary skeletal muscle disorder' http://purl.obolibrary.org/obo/MONDO_0010793 nephropathy, chronic tubulointerstitial 'nephropathy, chronic tubulointerstitial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020131 malformation of the cerebellar hemispheres 'malformation of the cerebellar hemispheres' SubClassOf 'cerebellar malformation' http://purl.obolibrary.org/obo/MONDO_0019170 polyarteritis nodosa 'polyarteritis nodosa' SubClassOf 'Arteritis' http://purl.obolibrary.org/obo/HP_0003312 Abnormal form of the vertebral bodies 'Abnormal form of the vertebral bodies' SubClassOf 'Abnormal vertebral morphology' http://purl.obolibrary.org/obo/HP_0003330 Abnormal bone structure 'Abnormal bone structure' SubClassOf 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/HP_0003344 3-Methylglutaric aciduria '3-Methylglutaric aciduria' SubClassOf 'Abnormality of urine homeostasis' http://purl.obolibrary.org/obo/MONDO_0009646 monosomy 7 myelodysplasia and leukemia syndrome 1 'monosomy 7 myelodysplasia and leukemia syndrome 1' SubClassOf 'familial monosomy 7 syndrome' http://purl.obolibrary.org/obo/HP_0003248 Gonadal tissue inappropriate for external genitalia or chromosomal sex 'Gonadal tissue inappropriate for external genitalia or chromosomal sex' SubClassOf 'Ambiguous genitalia' http://purl.obolibrary.org/obo/MONDO_0010693 nystagmus 1, congenital, X-linked 'nystagmus 1, congenital, X-linked' SubClassOf 'congenital nystagmus' http://purl.obolibrary.org/obo/HP_0003250 Aplasia of the vagina 'Aplasia of the vagina' SubClassOf 'Abnormal morphology of female internal genitalia' http://purl.obolibrary.org/obo/MONDO_0019068 congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization 'congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'bearer_of' some 'congenital' 'congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization' SubClassOf 'glomerular 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' http://purl.obolibrary.org/obo/MONDO_0010501 syndromic X-linked intellectual disability 34 'syndromic X-linked intellectual disability 34' SubClassOf 'congenital nervous system disorder' 'syndromic X-linked intellectual disability 34' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'syndromic X-linked intellectual disability 34' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010507 Xq25 microduplication syndrome 'Xq25 microduplication syndrome' SubClassOf 'partial duplication of the long arm of chromosome X' http://purl.obolibrary.org/obo/MONDO_0010500 intellectual disability, X-linked, syndromic 33 'intellectual disability, X-linked, syndromic 33' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010514 combined immunodeficiency due to moesin deficiency 'combined immunodeficiency due to moesin deficiency' SubClassOf 'immunodeficiency disease' 'combined immunodeficiency due to moesin deficiency' SubClassOf 'inborn error of immunity' http://purl.obolibrary.org/obo/HP_0003138 Increased blood urea nitrogen 'Increased blood urea nitrogen' SubClassOf 'Abnormal circulating nitrogen compound concentration' http://purl.obolibrary.org/obo/MONDO_0010598 glycogen storage disease IXa1 'glycogen storage disease IXa1' SubClassOf 'glycogen storage disease due to liver phosphorylase kinase deficiency' http://purl.obolibrary.org/obo/HP_0003502 Mild short stature 'Mild short stature' SubClassOf 'Proportionate short stature' http://purl.obolibrary.org/obo/HP_0003510 Severe short stature 'Severe short stature' SubClassOf 'Proportionate short stature' http://purl.obolibrary.org/obo/MONDO_0009403 hypertelorism and tetralogy of fallot 'hypertelorism and tetralogy of fallot' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010402 syndromic X-linked intellectual disability 94 'syndromic X-linked intellectual disability 94' SubClassOf 'X-linked intellectual disability due to GRIA3 anomalies' http://purl.obolibrary.org/obo/MONDO_0010406 chromosome Xp11.22 duplication syndrome 'chromosome Xp11.22 duplication syndrome' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010456 renal cell carcinoma, Xp11-associated 'renal cell carcinoma, Xp11-associated' SubClassOf 'MIT family translocation renal cell carcinoma' http://purl.obolibrary.org/obo/MONDO_0009482 hypogonadotropic hypogonadism 3 with or without anosmia 'hypogonadotropic hypogonadism 3 with or without anosmia' SubClassOf 'Kallmann syndrome' http://purl.obolibrary.org/obo/HP_0003495 GM2-ganglioside accumulation 'GM2-ganglioside accumulation' SubClassOf 'Abnormality of metabolism/homeostasis' 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 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0010480 anemia, nonspherocytic hemolytic, due to G6PD deficiency 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' SubClassOf 'anemia, nonspherocytic hemolytic' 'anemia, nonspherocytic hemolytic, due to G6PD deficiency' SubClassOf 'anemia due to erythrocyte enzyme disorder' http://purl.obolibrary.org/obo/MONDO_0010491 X-linked acrogigantism due to Xq26 microduplication 'X-linked acrogigantism due to Xq26 microduplication' SubClassOf 'X-linked disease' 'X-linked acrogigantism due to Xq26 microduplication' SubClassOf 'familial infantile gigantism' 'X-linked acrogigantism due to Xq26 microduplication' SubClassOf 'partial duplication of the long arm of chromosome X' http://purl.obolibrary.org/obo/HP_0003468 Abnormal vertebral morphology 'Abnormal vertebral morphology' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/CHEBI_34146 12(S)-HETE '12(S)-HETE' SubClassOf 'HETE' http://purl.obolibrary.org/obo/HP_0003423 Thoracolumbar kyphoscoliosis 'Thoracolumbar kyphoscoliosis' SubClassOf 'Kyphoscoliosis' 'Thoracolumbar kyphoscoliosis' SubClassOf 'Thoracolumbar scoliosis' 'Thoracolumbar kyphoscoliosis' SubClassOf 'Abnormal thorax morphology' http://purl.obolibrary.org/obo/CHEBI_34154 13(S)-HODE '13(S)-HODE' SubClassOf 'fatty acid' http://purl.obolibrary.org/obo/MONDO_0009392 hyperopia, high 'hyperopia, high' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000858 neuronal intestinal dysplasia 'neuronal intestinal dysplasia' SubClassOf 'colonic disorder' http://purl.obolibrary.org/obo/MONDO_0009296 glycoprotein storage disease 'glycoprotein storage disease' SubClassOf 'lysosomal storage disease' http://purl.obolibrary.org/obo/MONDO_0034092 optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 'optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf 'mitochondrial disease' 'optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf 'hereditary peripheral neuropathy' 'optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0034099 SYNGAP1-related developmental and epileptic encephalopathy 'SYNGAP1-related developmental and epileptic encephalopathy' SubClassOf 'infantile epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0000723 stutter disorder 'stutter disorder' SubClassOf 'speech disorder' 'stutter disorder' SubClassOf 'language disorder' 'stutter disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0024715 benign synovial neoplasm 'benign synovial neoplasm' SubClassOf 'benign soft tissue neoplasm' 'benign synovial neoplasm' SubClassOf 'synovium neoplasm' 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' http://purl.obolibrary.org/obo/MONDO_0024771 myopathy, distal, 7, adult-onset, X-linked 'myopathy, distal, 7, adult-onset, X-linked' SubClassOf 'distal myopathy' http://purl.obolibrary.org/obo/MONDO_0024777 immunodeficiency 98 with autoinflammation, X-linked 'immunodeficiency 98 with autoinflammation, X-linked' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0024770 autoinflammatory syndrome, familial, X-linked, Behcet-like 2 'autoinflammatory syndrome, familial, X-linked, Behcet-like 2' SubClassOf 'autoinflammatory syndrome, familial, Behcet-like' http://purl.obolibrary.org/obo/MONDO_0010170 Usher syndrome type 3A 'Usher syndrome type 3A' SubClassOf 'Usher syndrome type 3' http://purl.obolibrary.org/obo/MONDO_0034121 NAD(P)HX dehydratase deficiency 'NAD(P)HX dehydratase deficiency' SubClassOf 'inborn errors of metabolism' 'NAD(P)HX dehydratase deficiency' SubClassOf 'autosomal recessive disease' 'NAD(P)HX dehydratase deficiency' SubClassOf 'encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy' http://purl.obolibrary.org/obo/MONDO_0030437 congenital disorder of glycosylation, type IIw 'congenital disorder of glycosylation, type IIw' SubClassOf 'congenital disorder of glycosylation type II' http://purl.obolibrary.org/obo/MONDO_0030433 Charcot-Marie-Tooth disease, axonal, type 2FF 'Charcot-Marie-Tooth disease, axonal, type 2FF' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0030454 Joubert syndrome 39 'Joubert syndrome 39' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0030491 immunodeficiency 91 and hyperinflammation 'immunodeficiency 91 and hyperinflammation' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030489 epidermolysis bullosa simplex 2A, generalized severe 'epidermolysis bullosa simplex 2A, generalized severe' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0030487 spondylometaphyseal dysplasia, pagnamenta type 'spondylometaphyseal dysplasia, pagnamenta type' SubClassOf 'spondylometaphyseal dysplasia' http://purl.obolibrary.org/obo/MONDO_0030480 hearing loss, autosomal recessive 119 'hearing loss, autosomal recessive 119' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/HP_0410253 Myeloid maturation arrest 'Myeloid maturation arrest' SubClassOf 'Abnormality of blood and blood-forming tissues' http://purl.obolibrary.org/obo/MONDO_0044923 acute myeloid leukemia with mutated NPM1 'acute myeloid leukemia with mutated NPM1' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0030308 immunodeficiency 82 with systemic inflammation 'immunodeficiency 82 with systemic inflammation' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030309 Leber hereditary optic neuropathy, autosomal recessive 'Leber hereditary optic neuropathy, autosomal recessive' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0030334 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 'encephalitis, acute, infection (viral)-induced, susceptibility to, 11' SubClassOf 'encephalitis, acute, infection-induced, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0030331 Ritscher-Schinzel syndrome 4 'Ritscher-Schinzel syndrome 4' SubClassOf 'Ritscher-Schinzel syndrome' http://purl.obolibrary.org/obo/MONDO_0030330 cardiomyopathy, familial restrictive, 6 'cardiomyopathy, familial restrictive, 6' SubClassOf 'familial restrictive cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0030332 ciliary dyskinesia, primary, 46 'ciliary dyskinesia, primary, 46' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0030329 megacystis-microcolon-intestinal hypoperistalsis syndrome 5 'megacystis-microcolon-intestinal hypoperistalsis syndrome 5' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' 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' http://purl.obolibrary.org/obo/MONDO_0030355 facioscapulohumeral muscular dystrophy 4, digenic 'facioscapulohumeral muscular dystrophy 4, digenic' SubClassOf 'facioscapulohumeral muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0030341 myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive 'myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive' SubClassOf 'congenital nervous system disorder' 'myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive' SubClassOf 'congenital myasthenic syndrome' http://purl.obolibrary.org/obo/MONDO_0030375 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2' SubClassOf 'neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset' http://purl.obolibrary.org/obo/MONDO_0030376 Martsolf syndrome 2 'Martsolf syndrome 2' SubClassOf 'Martsolf syndrome' http://purl.obolibrary.org/obo/MONDO_0030399 visceral neuropathy, familial, 2, autosomal recessive 'visceral neuropathy, familial, 2, autosomal recessive' SubClassOf 'visceral neuropathy, familial' http://purl.obolibrary.org/obo/MONDO_0019808 aortic valve atresia 'aortic valve atresia' SubClassOf 'congenital heart disease' 'aortic valve atresia' SubClassOf 'congenital aortic valve stenosis' http://purl.obolibrary.org/obo/HP_0410176 Abnormal circulating glucose-6-phosphate dehydrogenase concentration 'Abnormal circulating glucose-6-phosphate dehydrogenase concentration' SubClassOf 'Abnormality of metabolism/homeostasis' http://purl.obolibrary.org/obo/MONDO_0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia 'pulmonary alveolar proteinosis with hypogammaglobulinemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030258 pontocerebellar hypoplasia, type 14 'pontocerebellar hypoplasia, type 14' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0030266 immunodeficiency 80 with or without congenital cardiomyopathy 'immunodeficiency 80 with or without congenital cardiomyopathy' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030261 pontocerebellar hypoplasia, type 1F 'pontocerebellar hypoplasia, type 1F' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0030294 megacystis-microcolon-intestinal hypoperistalsis syndrome 3 'megacystis-microcolon-intestinal hypoperistalsis syndrome 3' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' http://purl.obolibrary.org/obo/MONDO_0030296 megacystis-microcolon-intestinal hypoperistalsis syndrome 4 'megacystis-microcolon-intestinal hypoperistalsis syndrome 4' SubClassOf 'megacystis-microcolon-intestinal hypoperistalsis syndrome' http://purl.obolibrary.org/obo/MONDO_0020718 congenital short bowel syndrome, autosomal recessive 'congenital short bowel syndrome, autosomal recessive' SubClassOf 'congenital short bowel syndrome' 'congenital short bowel syndrome, autosomal recessive' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020701 brachydactyly type A1A 'brachydactyly type A1A' SubClassOf 'brachydactyly' 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' 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' 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 'central nervous system malformation' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'congenital nervous system disorder' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'disease arises from feature' some 'neurodegenerative disease' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'movement disorder' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'disease has major feature' some 'central nervous system malformation' 'childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020727 combined oxidative phosphorylation deficiency 22 'combined oxidative phosphorylation deficiency 22' SubClassOf 'mitochondrial proton-transporting ATP synthase complex deficiency' http://purl.obolibrary.org/obo/MONDO_0044715 metopic ridging-ptosis-facial dysmorphism syndrome 'metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'eyelids malposition disorder' 'metopic ridging-ptosis-facial dysmorphism syndrome' SubClassOf 'syndromic craniosynostosis' http://purl.obolibrary.org/obo/MONDO_0020724 cerebral cavernous malformation 1 'cerebral cavernous malformation 1' SubClassOf 'famililal cerebral cavernous malformations' http://purl.obolibrary.org/obo/MONDO_0044719 erythema multiforme major 'erythema multiforme major' SubClassOf 'toxic dermatosis' http://purl.obolibrary.org/obo/MONDO_0020757 sporadic hemiplegic migraine 'familial hemiplegic migraine' DisjointWith 'sporadic hemiplegic migraine' 'sporadic hemiplegic migraine' SubClassOf 'familial or sporadic hemiplegic migraine' 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' http://purl.obolibrary.org/obo/MONDO_0020746 contractures, pterygia, and variable skeletal fusions syndrome 1B 'contractures, pterygia, and variable skeletal fusions syndrome 1B' SubClassOf 'autosomal recessive multiple pterygium syndrome' 'contractures, pterygia, and variable skeletal fusions syndrome 1B' SubClassOf 'contractures, pterygia, and variable skeletal fusions syndrome' http://purl.obolibrary.org/obo/MONDO_0020774 Menke-Hennekam syndrome 'Menke-Hennekam syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044749 X-linked congenital stationary night blindness 'X-linked congenital stationary night blindness' SubClassOf 'congenital nervous system disorder' 'X-linked congenital stationary night blindness' SubClassOf 'congenital stationary night blindness' 'X-linked congenital stationary night blindness' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0044721 severe combined immunodeficiency due to LAT deficiency 'severe combined immunodeficiency due to LAT deficiency' SubClassOf 'T-B+ severe combined immunodeficiency' http://purl.obolibrary.org/obo/MONDO_0044723 3-methylglutaconic aciduria type 8 '3-methylglutaconic aciduria type 8' SubClassOf '3-methylglutaconic aciduria' http://purl.obolibrary.org/obo/MONDO_0020783 capillary malformation-arteriovenous malformation 1 'capillary malformation-arteriovenous malformation 1' SubClassOf 'capillary malformation-arteriovenous malformation syndrome' http://purl.obolibrary.org/obo/MONDO_0020788 hypomagnesemia, seizures, and intellectual disability 2 'hypomagnesemia, seizures, and intellectual disability 2' SubClassOf 'hypomagnesemia, seizures, and intellectual disability' http://purl.obolibrary.org/obo/MONDO_0029145 orofacial cleft 8 'orofacial cleft 8' SubClassOf 'orofacial cleft' http://purl.obolibrary.org/obo/MONDO_0044622 EMILIN-1-related connective tissue disease 'EMILIN-1-related connective tissue disease' SubClassOf 'hereditary peripheral neuropathy' 'EMILIN-1-related connective tissue disease' SubClassOf 'hereditary disorder of connective tissue' 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 'developmental anomaly of metabolic origin' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0044637 infantile-onset generalized dyskinesia with orofacial involvement 'infantile-onset generalized dyskinesia with orofacial involvement' SubClassOf 'focal, segmental or multifocal dystonia' http://purl.obolibrary.org/obo/MONDO_0020660 osteoblastic osteosarcoma 'osteoblastic osteosarcoma' SubClassOf 'conventional osteosarcoma' http://purl.obolibrary.org/obo/MONDO_0044618 obsolete CLCN4-related X-linked intellectual disability syndrome 'obsolete CLCN4-related X-linked intellectual disability syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0044675 LRP5-related primary osteoporosis 'LRP5-related primary osteoporosis' SubClassOf 'skeletal dysplasia' http://purl.obolibrary.org/obo/MONDO_0044645 familial monosomy 7 syndrome 'familial monosomy 7 syndrome' SubClassOf 'myelodysplastic syndrome' 'familial monosomy 7 syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 'MME-related autosomal dominant Charcot Marie Tooth disease type 2' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0020529 ACTH-independent Cushing syndrome 'ACTH-independent Cushing syndrome' SubClassOf 'Cushing syndrome' 'ACTH-independent Cushing syndrome' DisjointWith 'pituitary-dependent Cushing's disease' http://purl.obolibrary.org/obo/MONDO_0020594 abducens nerve disorder 'abducens nerve disorder' SubClassOf 'cranial nerve neuropathy' 'abducens nerve disorder' SubClassOf 'peripheral nervous system disease' http://purl.obolibrary.org/obo/MONDO_0020417 right aortic arch 'right aortic arch' SubClassOf 'aortic arch defects' http://purl.obolibrary.org/obo/MONDO_0019415 fetal and neonatal alloimmune thrombocytopenia 'fetal and neonatal alloimmune thrombocytopenia' SubClassOf 'hemorrhagic disease' http://purl.obolibrary.org/obo/MONDO_0020429 cor triatriatum dexter 'cor triatriatum dexter' SubClassOf 'triatrial heart' http://purl.obolibrary.org/obo/MONDO_0019456 acute myeloid leukemia with multilineage dysplasia 'acute myeloid leukemia with multilineage dysplasia' SubClassOf 'acute myeloid leukemia' http://purl.obolibrary.org/obo/MONDO_0019485 idiopathic hemiconvulsion-hemiplegia syndrome 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'infantile epilepsy syndrome' 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'generalised epilepsy' 'idiopathic hemiconvulsion-hemiplegia syndrome' SubClassOf 'childhood-onset epilepsy syndrome' http://purl.obolibrary.org/obo/MONDO_0010906 orofacial cleft 11 'orofacial cleft 11' SubClassOf 'orofacial cleft' 'orofacial cleft 11' SubClassOf 'cleft lip/palate' 'orofacial cleft 11' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0009935 pulmonary hypertension, primary, autosomal recessive 'pulmonary hypertension, primary, autosomal recessive' SubClassOf 'idiopathic and/or familial pulmonary arterial hypertension' http://purl.obolibrary.org/obo/MONDO_0010962 diffuse nonepidermolytic palmoplantar keratoderma 'diffuse nonepidermolytic palmoplantar keratoderma' SubClassOf 'autosomal dominant isolated diffuse palmoplantar keratoderma' http://purl.obolibrary.org/obo/MONDO_0010970 cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 'cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044311 brachycephaly, trichomegaly, and developmental delay 'brachycephaly, trichomegaly, and developmental delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044313 intellectual disability, autosomal recessive 60 'intellectual disability, autosomal recessive 60' SubClassOf 'autosomal recessive non-syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015688 myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'myeloid hemopathy' 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' SubClassOf 'hematopoietic and lymphoid cell neoplasm' http://purl.obolibrary.org/obo/MONDO_0015690 myeloid neoplasm associated with PDGFRB rearrangement 'myeloid neoplasm associated with PDGFRB rearrangement' SubClassOf 'myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2' http://purl.obolibrary.org/obo/MONDO_0015420 cleft lip and alveolus 'cleft lip and alveolus' SubClassOf 'cleft lip with or without cleft palate' http://purl.obolibrary.org/obo/HP_0033132 Renal cortical hyperechogenicity 'Renal cortical hyperechogenicity' SubClassOf 'Abnormal renal morphology' http://purl.obolibrary.org/obo/MONDO_0015450 triatrial heart 'triatrial heart' SubClassOf 'atrial defect and interatrial communication' http://purl.obolibrary.org/obo/HP_0008148 Impaired epinephrine-induced platelet aggregation 'Impaired epinephrine-induced platelet aggregation' SubClassOf 'Abnormal platelet aggregation' http://purl.obolibrary.org/obo/HP_0008041 Late onset congenital glaucoma 'Late onset congenital glaucoma' SubClassOf 'Ocular anterior segment dysgenesis' http://purl.obolibrary.org/obo/MONDO_0030933 Joubert syndrome 37 'Joubert syndrome 37' SubClassOf 'Joubert syndrome' http://purl.obolibrary.org/obo/MONDO_0030935 mitochondrial complex 2 deficiency, nuclear type 2 'mitochondrial complex 2 deficiency, nuclear type 2' SubClassOf 'mitochondrial complex II deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0030934 intellectual developmental disorder, autosomal dominant 64 'intellectual developmental disorder, autosomal dominant 64' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0030931 proteasome-associated autoinflammatory syndrome 4 'proteasome-associated autoinflammatory syndrome 4' SubClassOf 'proteosome-associated autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0030936 epilepsy, progressive myoclonic, 12 'epilepsy, progressive myoclonic, 12' SubClassOf 'progressive myoclonus epilepsy' http://purl.obolibrary.org/obo/MONDO_0030939 premature ovarian failure 18 'premature ovarian failure 18' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/HP_0008046 Abnormal retinal vascular morphology 'Abnormal retinal vascular morphology' SubClassOf 'Abnormality of the vasculature' 'Abnormal retinal vascular morphology' SubClassOf 'Abnormal retinal morphology' http://purl.obolibrary.org/obo/MONDO_0030924 proteasome-associated autoinflammatory syndrome 5 'proteasome-associated autoinflammatory syndrome 5' SubClassOf 'proteosome-associated autoinflammatory syndrome' http://purl.obolibrary.org/obo/MONDO_0030929 microcephaly 27, primary, autosomal dominant 'microcephaly 27, primary, autosomal dominant' SubClassOf 'autosomal dominant primary microcephaly' http://purl.obolibrary.org/obo/MONDO_0030925 oocyte maturation defect 10 'oocyte maturation defect 10' SubClassOf 'inherited oocyte maturation defect' http://purl.obolibrary.org/obo/MONDO_0030927 myofibrillar myopathy 11 'myofibrillar myopathy 11' SubClassOf 'myofibrillar myopathy' http://purl.obolibrary.org/obo/HP_0008059 Aplasia/Hypoplasia of the macula 'Aplasia/Hypoplasia of the macula' SubClassOf 'Abnormal macular morphology' http://purl.obolibrary.org/obo/MONDO_0030957 developmental and epileptic encephalopathy 103 'developmental and epileptic encephalopathy 103' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030953 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2' SubClassOf 'short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies' http://purl.obolibrary.org/obo/MONDO_0030941 erythrokeratodermia variabilis et progressiva 7 'erythrokeratodermia variabilis et progressiva 7' SubClassOf 'erythrokeratodermia variabilis' http://purl.obolibrary.org/obo/MONDO_0030947 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities 'neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030977 neuropathy, hereditary motor, with myopathic features 'neuropathy, hereditary motor, with myopathic features' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030976 oculomotor-abducens synkinesis 'oculomotor-abducens synkinesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030979 endove syndrome, limb-brain type 'endove syndrome, limb-brain type' SubClassOf 'EN1-related dorsoventral syndrome' http://purl.obolibrary.org/obo/MONDO_0030973 immunodeficiency 77 'immunodeficiency 77' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030972 spermatogenic failure 74 'spermatogenic failure 74' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030975 premature ovarian failure 20 'premature ovarian failure 20' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0030974 mitochondrial complex 2 deficiency, nuclear type 4 'mitochondrial complex 2 deficiency, nuclear type 4' SubClassOf 'mitochondrial complex II deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0030971 immunodeficiency 78 with autoimmunity and developmental delay 'immunodeficiency 78 with autoimmunity and developmental delay' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030970 immunodeficiency 106, susceptibility to viral infections 'immunodeficiency 106, susceptibility to viral infections' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030966 neurofacioskeletal syndrome with or without renal agenesis 'neurofacioskeletal syndrome with or without renal agenesis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030967 deafness, congenital, and adult-onset progressive leukoencephalopathy 'deafness, congenital, and adult-onset progressive leukoencephalopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030964 intellectual developmental disorder, autosomal dominant 67 'intellectual developmental disorder, autosomal dominant 67' SubClassOf 'intellectual disability, autosomal dominant' http://purl.obolibrary.org/obo/MONDO_0030999 neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism 'neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0030998 hearing loss, autosomal dominant 80 'hearing loss, autosomal dominant 80' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0030997 mitochondrial complex 1 deficiency, nuclear type 37 'mitochondrial complex 1 deficiency, nuclear type 37' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0030990 Kohlschutter-Tonz syndrome-like 'Kohlschutter-Tonz syndrome-like' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030993 Tessadori-Van Haaften neurodevelopmental syndrome 3 'Tessadori-Van Haaften neurodevelopmental syndrome 3' SubClassOf 'Tessadori-Van-Haaften neurodevelopmental syndrome' http://purl.obolibrary.org/obo/MONDO_0030992 short stature, oligodontia, dysmorphic facies, and motor delay 'short stature, oligodontia, dysmorphic facies, and motor delay' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030988 developmental delay with dysmorphic facies and dental anomalies 'developmental delay with dysmorphic facies and dental anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030987 vertebral, cardiac, tracheoesophageal, renal, and limb defects 'vertebral, cardiac, tracheoesophageal, renal, and limb defects' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030983 Waardenburg syndrome, IIa 2F 'Waardenburg syndrome, IIa 2F' SubClassOf 'Waardenburg syndrome' http://purl.obolibrary.org/obo/MONDO_0030986 blistering, acantholytic, of oral and laryngeal mucosa 'blistering, acantholytic, of oral and laryngeal mucosa' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030985 premature ovarian failure 19 'premature ovarian failure 19' SubClassOf 'inherited primary ovarian failure' http://purl.obolibrary.org/obo/MONDO_0030982 sulfide quinone oxidoreductase deficiency 'sulfide quinone oxidoreductase deficiency' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0030813 immunodeficiency 101 (varicella zoster virus-specific) 'immunodeficiency 101 (varicella zoster virus-specific)' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030819 meckel syndrome 14 'meckel syndrome 14' SubClassOf 'Meckel syndrome' http://purl.obolibrary.org/obo/MONDO_0030818 spermatogenic failure 73 'spermatogenic failure 73' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030801 monosomy 7 myelodysplasia and leukemia syndrome 2 'monosomy 7 myelodysplasia and leukemia syndrome 2' SubClassOf 'familial monosomy 7 syndrome' http://purl.obolibrary.org/obo/MONDO_0030800 cholestasis, progressive familial intrahepatic, 9 'cholestasis, progressive familial intrahepatic, 9' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0030805 spinocerebellar ataxia 49 'spinocerebellar ataxia 49' SubClassOf 'autosomal dominant cerebellar ataxia' http://purl.obolibrary.org/obo/MONDO_0030835 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 'developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030837 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities 'neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities' SubClassOf 'autosomal recessive disease' 'neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0030839 thyroid hormone metabolism, abnormal, 2 'thyroid hormone metabolism, abnormal, 2' SubClassOf 'thyroid hormone metabolism, abnormal' http://purl.obolibrary.org/obo/MONDO_0030827 macrothrombocytopenia, isolated, 2, autosomal dominant 'macrothrombocytopenia, isolated, 2, autosomal dominant' SubClassOf 'macrothrombocytopenia, isolated' 'macrothrombocytopenia, isolated, 2, autosomal dominant' SubClassOf 'autosomal dominant macrothrombocytopenia' http://purl.obolibrary.org/obo/MONDO_0030856 developmental and epileptic encephalopathy 89 'developmental and epileptic encephalopathy 89' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030855 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 'combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2' SubClassOf 'Ehlers-Danlos/osteogenesis imperfecta syndrome' http://purl.obolibrary.org/obo/MONDO_0030858 immunodeficiency 75 'immunodeficiency 75' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030852 neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities 'neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities' SubClassOf 'Mendelian neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0030854 combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 'combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1' SubClassOf 'Ehlers-Danlos/osteogenesis imperfecta syndrome' http://purl.obolibrary.org/obo/MONDO_0030849 intellectual developmental disorder with speech delay and axonal peripheral neuropathy 'intellectual developmental disorder with speech delay and axonal peripheral neuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030878 Kaya-Barakat-Masson syndrome 'Kaya-Barakat-Masson syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030877 cardioacrofacial dysplasia 2 'cardioacrofacial dysplasia 2' SubClassOf 'cardioacrofacial dysplasia' http://purl.obolibrary.org/obo/MONDO_0030873 cardiofacioneurodevelopmental syndrome 'cardiofacioneurodevelopmental syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030876 cardioacrofacial dysplasia 1 'cardioacrofacial dysplasia 1' SubClassOf 'cardioacrofacial dysplasia' http://purl.obolibrary.org/obo/MONDO_0030871 vertebral hypersegmentation and orofacial anomalies 'vertebral hypersegmentation and orofacial anomalies' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015249 mitral atresia disorder 'mitral atresia disorder' SubClassOf 'congenital mitral valve insufficiency and/or stenosis' 'mitral atresia disorder' SubClassOf 'congenital heart disease' 'mitral atresia disorder' SubClassOf 'mitral valve disease' 'mitral atresia disorder' SubClassOf 'inherited mitral valve disease' http://purl.obolibrary.org/obo/MONDO_0030899 oculocutaneous albinism type 8 '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' http://purl.obolibrary.org/obo/MONDO_0030897 Lessel-Kreienkamp syndrome 'Lessel-Kreienkamp syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030894 AMED syndrome, digenic 'AMED syndrome, digenic' SubClassOf 'bone marrow failure syndrome' http://purl.obolibrary.org/obo/MONDO_0030890 pontocerebellar hypoplasia, IIA 17 'pontocerebellar hypoplasia, IIA 17' SubClassOf 'pontocerebellar hypoplasia' http://purl.obolibrary.org/obo/MONDO_0030887 cardiomyopathy, dilated, 2G 'cardiomyopathy, dilated, 2G' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/MONDO_0030880 mandibuloacral dysplasia progeroid syndrome 'mandibuloacral dysplasia progeroid syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/HP_0200039 Pustule 'Pustule' SubClassOf 'Inflammatory abnormality of the skin' http://purl.obolibrary.org/obo/MONDO_0015273 complete atrioventricular canal 'complete atrioventricular canal' SubClassOf 'familial atrioventricular septal defect' 'complete atrioventricular canal' SubClassOf 'hereditary cardiac anomaly' http://purl.obolibrary.org/obo/MONDO_0015271 idiopathic camptocormia 'idiopathic camptocormia' SubClassOf 'acquired skeletal muscle disease' 'idiopathic camptocormia' SubClassOf 'idiopathic disease' http://purl.obolibrary.org/obo/HP_0008320 Impaired collagen-induced platelet aggregation 'Impaired collagen-induced platelet aggregation' SubClassOf 'Abnormal platelet aggregation' http://purl.obolibrary.org/obo/MONDO_0030902 mitochondrial complex 1 deficiency, nuclear type 36 'mitochondrial complex 1 deficiency, nuclear type 36' SubClassOf 'mitochondrial complex I deficiency, nuclear type' http://purl.obolibrary.org/obo/MONDO_0030903 Hermansky-Pudlak syndrome 11 'Hermansky-Pudlak syndrome 11' SubClassOf 'Hermansky-Pudlak syndrome' http://purl.obolibrary.org/obo/MONDO_0030905 hearing loss, autosomal recessive 117 'hearing loss, autosomal recessive 117' SubClassOf 'hearing loss, autosomal recessive' http://purl.obolibrary.org/obo/MONDO_0030714 osteogenesis imperfecta, IIA 22 'osteogenesis imperfecta, IIA 22' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0030711 Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive 'Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive' SubClassOf 'congenital dyserythropoietic anemia' http://purl.obolibrary.org/obo/MONDO_0030733 spermatogenic failure 70 'spermatogenic failure 70' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030723 hearing loss, autosomal dominant 83 'hearing loss, autosomal dominant 83' SubClassOf 'autosomal dominant nonsyndromic hearing loss' http://purl.obolibrary.org/obo/MONDO_0030726 neutropenia, severe congenital, 9, autosomal dominant 'neutropenia, severe congenital, 9, autosomal dominant' SubClassOf 'severe congenital neutropenia' http://purl.obolibrary.org/obo/MONDO_0030727 developmental and epileptic encephalopathy 101 'developmental and epileptic encephalopathy 101' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030750 epidermolysis bullosa, junctional 4, intermediate 'epidermolysis bullosa, junctional 4, intermediate' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/HP_0008264 Neutrophil inclusion bodies 'Neutrophil inclusion bodies' SubClassOf 'Abnormal leukocyte morphology' http://purl.obolibrary.org/obo/MONDO_0030746 epidermolysis bullosa, junctional 2A, intermediate 'epidermolysis bullosa, junctional 2A, intermediate' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/HP_0008271 Abnormal cartilage collagen 'Abnormal cartilage collagen' SubClassOf 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/MONDO_0030748 epidermolysis bullosa, junctional 3A, intermediate 'epidermolysis bullosa, junctional 3A, intermediate' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0030747 epidermolysis bullosa, junctional 2B, severe 'epidermolysis bullosa, junctional 2B, severe' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/MONDO_0030749 epidermolysis bullosa, junctional 3B, severe 'epidermolysis bullosa, junctional 3B, severe' SubClassOf 'junctional epidermolysis bullosa' http://purl.obolibrary.org/obo/HP_0008279 Transient hyperlipidemia 'Transient hyperlipidemia' SubClassOf 'Abnormal circulating lipid concentration' http://purl.obolibrary.org/obo/MONDO_0030797 retinitis pigmentosa 93 'retinitis pigmentosa 93' SubClassOf 'retinitis pigmentosa' http://purl.obolibrary.org/obo/MONDO_0030796 leukoencephalopathy, hereditary diffuse, with spheroids 'leukoencephalopathy, hereditary diffuse, with spheroids' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030798 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias 'immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias' SubClassOf 'immunodeficiency disease' 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' http://purl.obolibrary.org/obo/MONDO_0015196 vein of Galen aneurysm 'vein of Galen aneurysm' SubClassOf 'arteriovenous hemangioma/malformation' 'vein of Galen aneurysm' SubClassOf 'neurovascular malformation' 'vein of Galen aneurysm' SubClassOf 'vein disorder' 'vein of Galen aneurysm' SubClassOf 'cerebral hemangioma' http://purl.obolibrary.org/obo/MONDO_0030607 Bryant-Li-Bhoj neurodevelopmental syndrome 2 'Bryant-Li-Bhoj neurodevelopmental syndrome 2' SubClassOf 'Bryant-Li-Bhoj neurodevelopmental syndrome' http://purl.obolibrary.org/obo/MONDO_0030606 Bryant-Li-Bhoj neurodevelopmental syndrome 1 'Bryant-Li-Bhoj neurodevelopmental syndrome 1' SubClassOf 'Bryant-Li-Bhoj neurodevelopmental syndrome' http://purl.obolibrary.org/obo/MONDO_0030634 leukoencephalopathy, hereditary diffuse, with spheroids 2 'leukoencephalopathy, hereditary diffuse, with spheroids 2' SubClassOf 'leukoencephalopathy, hereditary diffuse, with spheroids' http://purl.obolibrary.org/obo/MONDO_0030639 Teebi hypertelorism syndrome 'Teebi hypertelorism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030625 dyskinesia with orofacial involvement, autosomal recessive 'dyskinesia with orofacial involvement, autosomal recessive' SubClassOf 'dyskinesia with orofacial involvement' http://purl.obolibrary.org/obo/MONDO_0015000 developmental and epileptic encephalopathy, 48 'developmental and epileptic encephalopathy, 48' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0015012 mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders 'mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'developmental anomaly of metabolic origin' 'mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'lysosomal storage disease with skeletal involvement' 'mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'respiratory system disease' 'mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'dysostosis of genetic origin' 'mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'mucopolysaccharidosis or mucopolysaccharidosis-like disorder' 'mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015025 developmental and epileptic encephalopathy, 51 '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' http://purl.obolibrary.org/obo/MONDO_0030676 parkinsonism-dystonia 3, childhood-onset 'parkinsonism-dystonia 3, childhood-onset' SubClassOf 'parkinsonism-dystonia, infantile' http://purl.obolibrary.org/obo/MONDO_0030677 Charcot-Marie-Tooth disease, demyelinating, IIA 1I 'Charcot-Marie-Tooth disease, demyelinating, IIA 1I' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0030695 developmental and epileptic encephalopathy 100 'developmental and epileptic encephalopathy 100' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0030692 immunodeficiency 95 'immunodeficiency 95' SubClassOf 'immunodeficiency disease' http://purl.obolibrary.org/obo/MONDO_0030689 Charcot-Marie-Tooth disease, demyelinating, IIA 1H 'Charcot-Marie-Tooth disease, demyelinating, IIA 1H' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0030680 cardiomyopathy, dilated, 2F 'cardiomyopathy, dilated, 2F' SubClassOf 'familial dilated cardiomyopathy' http://purl.obolibrary.org/obo/OBA_2050341 level of 12-hydroxy-5,8,10,14-eicosatetraenoic acid in blood plasma 'level of 12-hydroxy-5,8,10,14-eicosatetraenoic acid in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050340 level of 11,12-dihydroxyicosa-5,8,14-trienoic acid in blood plasma 'level of 11,12-dihydroxyicosa-5,8,14-trienoic acid in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050349 level of interleukin-12 subunit beta in blood 'level of interleukin-12 subunit beta in blood' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050348 level of 12,13-dihydroxyoctadec-9-enoic acid in blood plasma 'level of 12,13-dihydroxyoctadec-9-enoic acid in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050347 level of 13-hydroxyoctadecadienoic acid in blood plasma 'level of 13-hydroxyoctadecadienoic acid in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050346 level of 9-hydroxylinoleic acid in blood plasma 'level of 9-hydroxylinoleic acid in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050345 level of 9,10-dihydroxyoctadec-12-enoic acid in blood plasma 'level of 9,10-dihydroxyoctadec-12-enoic acid in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050344 level of 9,10-dihydroxyoctadeca-12,15-dienoic acid in blood plasma 'level of 9,10-dihydroxyoctadeca-12,15-dienoic acid in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050343 level of 11-hydroxy-arachidonic acid in blood plasma 'level of 11-hydroxy-arachidonic acid in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050342 level of 5-hydroxy-6,8,11,14-eicosatetraenoic acid in blood plasma 'level of 5-hydroxy-6,8,11,14-eicosatetraenoic acid in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050339 level of 14,15-dihydroxyeicosa-5,8,11-trienoic acid in blood plasma 'level of 14,15-dihydroxyeicosa-5,8,11-trienoic acid in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/OBA_2050338 level of oxylipin in blood plasma 'level of oxylipin in blood plasma' SubClassOf 'amount' http://purl.obolibrary.org/obo/HP_0008573 Low-frequency sensorineural hearing impairment 'Low-frequency sensorineural hearing impairment' SubClassOf 'Sensorineural hearing impairment' http://purl.obolibrary.org/obo/HP_0008572 External ear malformation 'External ear malformation' SubClassOf 'Abnormal pinna morphology' http://purl.obolibrary.org/obo/HP_0008589 Hypoplastic helices 'Hypoplastic helices' SubClassOf 'Abnormal pinna morphology' http://purl.obolibrary.org/obo/HP_0008598 Mild conductive hearing impairment 'Mild conductive hearing impairment' SubClassOf 'Conductive hearing impairment' http://purl.obolibrary.org/obo/HP_0033428 Systemic autoinflammation 'Systemic autoinflammation' SubClassOf 'Increased inflammatory response' http://purl.obolibrary.org/obo/MONDO_0030515 spermatogenic failure 63 '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' http://purl.obolibrary.org/obo/MONDO_0030517 trichothiodystrophy 8, nonphotosensitive 'trichothiodystrophy 8, nonphotosensitive' SubClassOf 'trichothiodystrophy' http://purl.obolibrary.org/obo/MONDO_0030512 spastic paraplegia 85, autosomal recessive 'spastic paraplegia 85, autosomal recessive' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0030503 cholestasis, progressive familial intrahepatic, 7, with or without hearing loss 'cholestasis, progressive familial intrahepatic, 7, with or without hearing loss' SubClassOf 'progressive familial intrahepatic cholestasis' http://purl.obolibrary.org/obo/MONDO_0030500 Loeys-Dietz syndrome 6 'Loeys-Dietz syndrome 6' SubClassOf 'Loeys-Dietz syndrome' http://purl.obolibrary.org/obo/MONDO_0030507 spermatogenic failure 61 'spermatogenic failure 61' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030535 epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive 'epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0030534 hypogonadotropic hypogonadism 26 with or without anosmia 'hypogonadotropic hypogonadism 26 with or without anosmia' SubClassOf 'hypogonadotropic hypogonadism' http://purl.obolibrary.org/obo/MONDO_0030531 spermatogenic failure 65 'spermatogenic failure 65' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030525 epidermolysis bullosa simplex 2B, generalized intermediate 'epidermolysis bullosa simplex 2B, generalized intermediate' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0030527 epidermolysis bullosa simplex 2C, localized 'epidermolysis bullosa simplex 2C, localized' SubClassOf 'epidermolysis bullosa simplex' http://purl.obolibrary.org/obo/MONDO_0030529 agammaglobulinemia 10, autosomal dominant 'agammaglobulinemia 10, autosomal dominant' SubClassOf 'agammaglobulinemia' http://purl.obolibrary.org/obo/MONDO_0030543 combined oxidative phosphorylation deficiency 54 'combined oxidative phosphorylation deficiency 54' SubClassOf 'combined oxidative phosphorylation deficiency' http://purl.obolibrary.org/obo/HP_0430000 Abnormal frontal bone morphology 'Abnormal frontal bone morphology' SubClassOf 'Abnormal skull morphology' http://purl.obolibrary.org/obo/HP_0008436 Absent/hypoplastic coccyx 'Absent/hypoplastic coccyx' SubClassOf 'Abnormality of the vertebral column' http://purl.obolibrary.org/obo/HP_0008751 Laryngeal cleft 'Laryngeal cleft' SubClassOf 'Abnormal larynx morphology' http://purl.obolibrary.org/obo/MONDO_0011302 type 1 diabetes mellitus 17 'type 1 diabetes mellitus 17' SubClassOf 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' http://purl.obolibrary.org/obo/MONDO_0011347 craniosynostosis with ectopia lentis 'craniosynostosis with ectopia lentis' SubClassOf 'craniosynostosis' http://purl.obolibrary.org/obo/HP_0008774 Aplasia/Hypoplasia of the inner ear 'Aplasia/Hypoplasia of the inner ear' SubClassOf 'Abnormality of the inner ear' http://purl.obolibrary.org/obo/CHEBI_63969 (5Z,8Z,14Z)-11,12-dihydroxyicosatrienoic acid '(5Z,8Z,14Z)-11,12-dihydroxyicosatrienoic acid' SubClassOf 'fatty acid' http://purl.obolibrary.org/obo/CHEBI_63966 (5Z,8Z,11Z)-14,15-dihydroxyicosatrienoic acid '(5Z,8Z,11Z)-14,15-dihydroxyicosatrienoic acid' SubClassOf 'fatty acid' http://purl.obolibrary.org/obo/MONDO_0001836 amenorrhea 'amenorrhea' SubClassOf 'female reproductive system disease' http://purl.obolibrary.org/obo/HP_0008647 Pubertal developmental failure in females 'Pubertal developmental failure in females' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/MONDO_0011263 skeletal dysplasia and progressive central nervous system degeneration, lethal 'skeletal dysplasia and progressive central nervous system degeneration, lethal' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011265 tooth agenesis, selective, 2 'tooth agenesis, selective, 2' SubClassOf 'tooth agenesis' http://purl.obolibrary.org/obo/MONDO_0011268 renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 'renal tubular acidosis, distal, 3, with or without sensorineural hearing loss' SubClassOf 'autosomal recessive distal renal tubular acidosis' 'renal tubular acidosis, distal, 3, with or without sensorineural hearing loss' SubClassOf 'renal tubular acidosis' 'renal tubular acidosis, distal, 3, with or without sensorineural hearing loss' SubClassOf 'inborn errors of metabolism' 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' http://purl.obolibrary.org/obo/MONDO_0025699 Coffin-Siris syndrome 12 'Coffin-Siris syndrome 12' SubClassOf 'Coffin-Siris syndrome' http://purl.obolibrary.org/obo/MONDO_0011068 type 1 diabetes mellitus 12 'type 1 diabetes mellitus 12' SubClassOf 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' http://purl.obolibrary.org/obo/HP_0008922 Childhood-onset short-trunk short stature 'Childhood-onset short-trunk short stature' SubClassOf 'Disproportionate short-trunk short stature' http://purl.obolibrary.org/obo/MONDO_0001749 cortical senile cataract 'cortical senile cataract' SubClassOf 'senile cataract' 'cortical senile cataract' SubClassOf 'cortical cataract' http://purl.obolibrary.org/obo/MONDO_0011141 megaloblastic anemia, folate-responsive 'megaloblastic anemia, folate-responsive' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0035122 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 'GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011168 type 1 diabetes mellitus 10 'type 1 diabetes mellitus 10' SubClassOf 'diabetes mellitus, insulin-dependent, X-linked, susceptibility to' http://purl.obolibrary.org/obo/HP_0008807 Acetabular dysplasia 'Acetabular dysplasia' SubClassOf 'Abnormality of the lower limb' 'Acetabular dysplasia' SubClassOf 'Abnormal skeletal morphology' http://purl.obolibrary.org/obo/MONDO_0001645 crescentic glomerulonephritis 'crescentic glomerulonephritis' SubClassOf 'acute proliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0001644 acute proliferative glomerulonephritis 'acute proliferative glomerulonephritis' SubClassOf 'acute disease' 'acute proliferative glomerulonephritis' SubClassOf 'proliferative glomerulonephritis' http://purl.obolibrary.org/obo/MONDO_0025622 Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1 'Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1' SubClassOf 'Charcot-Marie-Tooth disease' http://purl.obolibrary.org/obo/MONDO_0011002 neuropathy, hereditary motor and sensory, type 6A 'neuropathy, hereditary motor and sensory, type 6A' SubClassOf 'hereditary motor and sensory neuropathy type 6' 'neuropathy, hereditary motor and sensory, type 6A' SubClassOf 'motor peripheral neuropathy' http://purl.obolibrary.org/obo/HP_0008890 Severe short-limb dwarfism 'Severe short-limb dwarfism' SubClassOf 'Disproportionate short-limb short stature' http://purl.obolibrary.org/obo/MONDO_0025356 azoospermia, obstructive, with nephrolithiasis 'azoospermia, obstructive, with nephrolithiasis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0025351 multiple congenital anomalies-neurodevelopmental syndrome, X-linked 'multiple congenital anomalies-neurodevelopmental syndrome, X-linked' SubClassOf 'bearer_of' some 'congenital' 'multiple congenital anomalies-neurodevelopmental syndrome, X-linked' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0025353 developmental and epileptic encephalopathy, 90 'developmental and epileptic encephalopathy, 90' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0001464 sigmoid colon cancer 'sigmoid colon cancer' SubClassOf 'sigmoid neoplasm' 'sigmoid colon cancer' SubClassOf 'malignant colon neoplasm' http://purl.obolibrary.org/obo/MONDO_0001468 synovial plica syndrome 'synovial plica syndrome' SubClassOf 'joint disease' 'synovial plica syndrome' SubClassOf 'synovium disorder' http://purl.obolibrary.org/obo/MONDO_0015842 bicornuate uterus 'bicornuate uterus' SubClassOf 'non-syndromic uterovaginal malformation' http://purl.obolibrary.org/obo/MONDO_0015843 uterine hypoplasia 'uterine hypoplasia' SubClassOf 'non-syndromic uterovaginal malformation'