2844 1377 30 http://www.ebi.ac.uk/efo/EFO_1000222 Ductal or Ductular Proliferation 'Ductal or Ductular Proliferation' SubClassOf 'neoplasm' 'Ductal or Ductular Proliferation' SubClassOf 'neoplasm' http://www.ebi.ac.uk/efo/EFO_1000220 Disseminated Peritoneal Leiomyomatosis 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'has modifier' some 'disseminated' 'Disseminated Peritoneal Leiomyomatosis' SubClassOf 'bearer_of' some 'disseminated' http://www.ebi.ac.uk/efo/EFO_1000275 Gastric Neuroendocrine Tumor G1 'Gastric Neuroendocrine Tumor G1' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'Gastric Neuroendocrine Tumor G1' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://www.ebi.ac.uk/efo/EFO_1000291 Hepatic Granuloma 'Hepatic Granuloma' SubClassOf 'liver neoplasm' 'Hepatic Granuloma' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0008504 supravalvular aortic stenosis 'supravalvular aortic stenosis' SubClassOf 'aortic stenosis' 'supravalvular aortic stenosis' SubClassOf 'aortic malformation' 'supravalvular aortic stenosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042981 http://purl.obolibrary.org/obo/MONDO_0008501 Sturge-Weber syndrome 'Sturge-Weber syndrome' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000437 embryonal rhabdomyosarcoma 'embryonal rhabdomyosarcoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008540 extensor tendons of finger anomalies 'extensor tendons of finger anomalies' SubClassOf 'has modifier' some 'rare' 'extensor tendons of finger anomalies' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000209 Craniopharyngioma 'Craniopharyngioma' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'Craniopharyngioma' SubClassOf 'disease has feature' some 'pituitary hormone deficiency from tumoral origin' 'Craniopharyngioma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/MONDO_0008565 familial thyroglossal duct cyst 'familial thyroglossal duct cyst' EquivalentTo 'Thyroglossal Duct Cyst' and ('has modifier' some 'inherited') 'familial thyroglossal duct cyst' SubClassOf 'has modifier' some 'congenital' 'familial thyroglossal duct cyst' EquivalentTo 'Thyroglossal Duct Cyst' and ('bearer_of' some 'inherited') 'familial thyroglossal duct cyst' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008562 thumb deformity-alopecia-pigmentation anomaly syndrome 'thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf 'has modifier' some 'rare' 'thumb deformity-alopecia-pigmentation anomaly syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008570 thyrotoxic periodic paralysis, susceptibility to, 1 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'thyrotoxic periodic paralysis' 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'inherited disease susceptibility' 'thyrotoxic periodic paralysis, susceptibility to, 1' SubClassOf 'predisposes towards' some 'thyrotoxic periodic paralysis' http://purl.obolibrary.org/obo/MONDO_0021533 intestinal neuroendocrine tumor G1 'intestinal neuroendocrine tumor G1' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'intestinal neuroendocrine tumor G1' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/MONDO_0033548 myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies 'myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies' SubClassOf 'has modifier' some 'congenital' 'myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008588 hereditary geniospasm 'hereditary geniospasm' SubClassOf 'has modifier' some 'rare' 'hereditary geniospasm' SubClassOf 'bearer_of' some 'rare' 'hereditary geniospasm' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008592 tricho-dento-osseous syndrome 'tricho-dento-osseous syndrome' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0033543 cone-rod synaptic disorder syndrome, congenital nonprogressive 'cone-rod synaptic disorder syndrome, congenital nonprogressive' SubClassOf 'has modifier' some 'congenital' 'cone-rod synaptic disorder syndrome, congenital nonprogressive' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0021553 transverse myelitis 'transverse myelitis' SubClassOf 'has modifier' some 'rare' 'transverse myelitis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008598 trichodysplasia-xeroderma syndrome 'trichodysplasia-xeroderma syndrome' SubClassOf 'syndromic hair shaft abnormality' 'trichodysplasia-xeroderma syndrome' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0021582 lentigo 'lentigo' SubClassOf 'genetic skin disease' 'lentigo' SubClassOf 'genetic disorder' 'lentigo' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0033562 neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 'neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://www.ebi.ac.uk/efo/EFO_1000356 Malignant Mixed Neoplasm 'Malignant Mixed Neoplasm' SubClassOf 'cancer' 'Malignant Mixed Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_1000355 Malignant Mesothelioma 'Malignant Mesothelioma' SubClassOf 'cancer' 'Malignant Mesothelioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_1000352 Malignant Germ Cell Tumor 'Malignant Germ Cell Tumor' SubClassOf 'cancer' 'Malignant Germ Cell Tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_1000363 Malignant Urinary System Neoplasm 'Malignant Urinary System Neoplasm' SubClassOf 'cancer' 'Malignant Urinary System Neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://www.orpha.net/ORDO/Orphanet_33069 Dravet syndrome 'Dravet syndrome' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0002914 uterine sarcoma 'uterine sarcoma' SubClassOf 'has modifier' some 'rare' 'uterine sarcoma' SubClassOf 'bearer_of' some 'rare' 'uterine sarcoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000396 Nevus of Ota 'Nevus of Ota' SubClassOf 'has modifier' some 'rare' 'Nevus of Ota' SubClassOf 'material entity' 'Nevus of Ota' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000395 Nevus of Ito 'Nevus of Ito' SubClassOf 'has modifier' some 'rare' 'Nevus of Ito' SubClassOf 'bearer_of' some 'rare' 'Nevus of Ito' SubClassOf 'material entity' http://purl.obolibrary.org/obo/HP_0006957 Loss of ability to walk 'Loss of ability to walk' SubClassOf 'Inability to walk' 'Loss of ability to walk' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0002945 familial cardiomyopathy 'familial cardiomyopathy' EquivalentTo 'cardiomyopathy' and ('has modifier' some 'inherited') 'familial cardiomyopathy' EquivalentTo 'cardiomyopathy' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0000311 cancer 'cancer' DisjointWith 'benign neoplasm' 'cancer' SubClassOf 'neoplasm' 'cancer' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000313 carcinoma 'carcinoma' SubClassOf 'cancer' 'carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_0000318 cardiomyopathy 'cardiomyopathy' SubClassOf 'has modifier' some 'rare' 'cardiomyopathy' SubClassOf 'bearer_of' some 'rare' 'cardiomyopathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008407 neurogenic scapuloperoneal syndrome, Kaeser type 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'hereditary motor neuron disease' 'neurogenic scapuloperoneal syndrome, Kaeser type' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0008404 scalp-ear-nipple syndrome 'scalp-ear-nipple syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'scalp-ear-nipple syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008403 scalp defects-postaxial polydactyly syndrome 'scalp defects-postaxial polydactyly syndrome' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0000333 chondrosarcoma 'chondrosarcoma' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008411 ulnar-mammary syndrome 'ulnar-mammary syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'ulnar-mammary syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008426 Shprintzen-Goldberg syndrome 'Shprintzen-Goldberg syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Shprintzen-Goldberg syndrome' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000327 Low Grade Central Osteosarcoma 'Low Grade Central Osteosarcoma' EquivalentTo 'osteosarcoma' and ('has modifier' some 'tumor grade 1, general grading system') 'Low Grade Central Osteosarcoma' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'Low Grade Central Osteosarcoma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' 'Low Grade Central Osteosarcoma' EquivalentTo 'osteosarcoma' and ('bearer_of' some 'tumor grade 1, general grading system') 'Low Grade Central Osteosarcoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000328 Low Grade Fibromyxoid Sarcoma 'Low Grade Fibromyxoid Sarcoma' EquivalentTo 'fibrosarcoma' and ('has modifier' some 'tumor grade 1, general grading system') 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'Low Grade Fibromyxoid Sarcoma' EquivalentTo 'fibrosarcoma' and ('bearer_of' some 'tumor grade 1, general grading system') 'Low Grade Fibromyxoid Sarcoma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/MONDO_0008439 spastic paraplegia-epilepsy-intellectual disability syndrome 'spastic paraplegia-epilepsy-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000334 Lung Lymphangioleiomyomatosis 'Lung Lymphangioleiomyomatosis' SubClassOf 'has modifier' some 'rare' 'Lung Lymphangioleiomyomatosis' SubClassOf 'material entity' 'Lung Lymphangioleiomyomatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008434 Smith-Magenis syndrome 'Smith-Magenis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Smith-Magenis syndrome' SubClassOf 'genetic nervous system disorder' http://www.orpha.net/ORDO/Orphanet_69088 Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'genetic skin disease' 'Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1000330 Low Grade Vulvar Intraepithelial Neoplasia 'Low Grade Vulvar Intraepithelial Neoplasia' EquivalentTo 'vulvar intraepithelial neoplasia' and ('has modifier' some 'tumor grade 1, general grading system') 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'material entity' 'Low Grade Vulvar Intraepithelial Neoplasia' EquivalentTo 'vulvar intraepithelial neoplasia' and ('bearer_of' some 'tumor grade 1, general grading system') 'Low Grade Vulvar Intraepithelial Neoplasia' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/MONDO_0008440 spastic paraplegia-nephritis-deafness syndrome 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'syndromic urogenital tract malformation' 'spastic paraplegia-nephritis-deafness syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://www.ebi.ac.uk/efo/EFO_0000272 astrocytoma 'astrocytoma' SubClassOf 'glioma' 'astrocytoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021636 http://purl.obolibrary.org/obo/MONDO_0008469 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome 'spondyloepimetaphyseal dysplasia-hypotrichosis syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia-hypotrichosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://www.ebi.ac.uk/efo/EFO_0000274 atopic eczema 'atopic eczema' SubClassOf 'genetic skin disease' 'atopic eczema' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008467 Czeizel-Losonci syndrome 'Czeizel-Losonci syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Czeizel-Losonci syndrome' SubClassOf 'genetic nervous system disorder' 'Czeizel-Losonci syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000279 azoospermia 'azoospermia' SubClassOf 'genetic infertility' 'azoospermia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008476 spondyloepimetaphyseal dysplasia, Strudwick type 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Strudwick type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://www.ebi.ac.uk/efo/EFO_0000266 aortic stenosis 'aortic stenosis' SubClassOf 'aortic valve disease' 'aortic stenosis' SubClassOf 'aortic valve disease' http://purl.obolibrary.org/obo/MONDO_0008473 spondyloepimetaphyseal dysplasia, Maroteaux type 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Maroteaux type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0008472 spondyloepiphyseal dysplasia, MacDermot type 'spondyloepiphyseal dysplasia, MacDermot type' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0008488 holoprosencephaly-radial heart renal anomalies syndrome 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'holoprosencephaly-radial heart renal anomalies syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0008486 steatocystoma multiplex-natal teeth syndrome 'steatocystoma multiplex-natal teeth syndrome' SubClassOf 'genetic sebaceous gland anomaly' 'steatocystoma multiplex-natal teeth syndrome' SubClassOf 'bearer_of' some 'rare' 'steatocystoma multiplex-natal teeth syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008485 sebocystomatosis 'sebocystomatosis' SubClassOf 'genetic sebaceous gland anomaly' 'sebocystomatosis' SubClassOf 'sebaceous gland anomaly' http://purl.obolibrary.org/obo/MONDO_0008484 stapes ankylosis with broad thumbs and toes 'stapes ankylosis with broad thumbs and toes' SubClassOf 'syndromic genetic hearing loss' 'stapes ankylosis with broad thumbs and toes' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008492 stiff skin syndrome 'stiff skin syndrome' SubClassOf 'genetic skin disease' 'stiff skin syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0008490 otospondylomegaepiphyseal dysplasia, autosomal dominant 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'syndromic genetic hearing loss' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'congenital nervous system disorder' 'otospondylomegaepiphyseal dysplasia, autosomal dominant' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008499 short stature-wormian bones-dextrocardia syndrome 'short stature-wormian bones-dextrocardia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'short stature-wormian bones-dextrocardia syndrome' SubClassOf 'bearer_of' some 'rare' 'short stature-wormian bones-dextrocardia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.ebi.ac.uk/efo/EFO_0000289 bipolar disorder 'bipolar disorder' SubClassOf 'mood disorder' 'bipolar disorder' SubClassOf 'disease has feature' some 'recurrent hypersomnia' 'bipolar disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0004296 Abnormality of gastrointestinal vasculature 'Abnormality of gastrointestinal vasculature' SubClassOf 'Abnormality of cardiovascular system morphology' http://www.ebi.ac.uk/efo/EFO_1000028 ependymoma 'ependymoma' EquivalentTo 'ependymal neoplasm' and ('has modifier' some 'tumor grade 2, general grading system') 'ependymoma' EquivalentTo 'ependymal neoplasm' and ('bearer_of' some 'tumor grade 2, general grading system') http://www.ebi.ac.uk/efo/EFO_0000632 oligodendroglioma 'oligodendroglioma' EquivalentTo 'oligodendroglial tumor' and ('has modifier' some 'tumor grade 2, general grading system') 'oligodendroglioma' EquivalentTo 'oligodendroglial tumor' and ('bearer_of' some 'tumor grade 2, general grading system') http://www.ebi.ac.uk/efo/EFO_0000650 whooping cough 'whooping cough' SubClassOf 'has modifier' some 'rare' 'whooping cough' SubClassOf 'bearer_of' some 'rare' 'whooping cough' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0011901 Charcot-Marie-Tooth disease axonal type 2H 'Charcot-Marie-Tooth disease axonal type 2H' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011911 craniolenticulosutural dysplasia 'craniolenticulosutural dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'craniolenticulosutural dysplasia' SubClassOf 'bearer_of' some 'rare' 'craniolenticulosutural dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011916 Charcot-Marie-Tooth disease axonal type 2K 'Charcot-Marie-Tooth disease axonal type 2K' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://www.ebi.ac.uk/efo/EFO_0000676 psoriasis 'psoriasis' SubClassOf 'genetic skin disease' 'psoriasis' SubClassOf 'scalp disorder' 'psoriasis' SubClassOf 'genetic disorder' 'psoriasis' SubClassOf 'head disorder' http://purl.obolibrary.org/obo/MONDO_0011928 caudal duplication 'caudal duplication' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011927 tufted angioma 'tufted angioma' SubClassOf 'has modifier' some 'rare' 'tufted angioma' SubClassOf 'material entity' 'tufted angioma' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009028 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'has modifier' some 'rare' 'Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009029 Central precocious puberty 'peripheral precocious puberty' DisjointWith 'Central precocious puberty' 'Central precocious puberty' SubClassOf 'genetic disorder' 'Central precocious puberty' SubClassOf 'precocious puberty' http://www.ebi.ac.uk/efo/EFO_0000691 sarcoma 'sarcoma' SubClassOf 'cancer' 'sarcoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0011933 ALG2-CDG 'ALG2-CDG' SubClassOf 'neurometabolic disease' 'ALG2-CDG' SubClassOf 'congenital nervous system disorder' 'ALG2-CDG' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0000693 schwannoma 'schwannoma' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'schwannoma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://www.ebi.ac.uk/efo/EFO_0000694 severe acute respiratory syndrome 'severe acute respiratory syndrome' SubClassOf 'has modifier' some 'rare' 'severe acute respiratory syndrome' SubClassOf 'material entity' 'severe acute respiratory syndrome' SubClassOf 'bearer_of' some 'rare' 'severe acute respiratory syndrome' SubClassOf 'acute disease' http://www.ebi.ac.uk/efo/EFO_0000681 renal cell carcinoma 'renal cell carcinoma' SubClassOf 'has modifier' some 'rare' 'renal cell carcinoma' SubClassOf 'bearer_of' some 'rare' 'renal cell carcinoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0009047 Hyperpigmentation of the skin 'Hyperpigmentation of the skin' SubClassOf 'inheres in part of' some 'zone of skin' 'Hyperpigmentation of the skin' SubClassOf 'Abnormality of the skin' 'Hyperpigmentation of the skin' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008301 Guttmacher syndrome 'Guttmacher syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008300 Prader-Willi syndrome 'Prader-Willi syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi syndrome' SubClassOf 'congenital nervous system disorder' 'Prader-Willi syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0011959 sweet syndrome 'sweet syndrome' SubClassOf 'has modifier' some 'rare' 'sweet syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009052 Pleuropulmonary blastoma 'Pleuropulmonary blastoma' SubClassOf 'respiratory system neoplasm' 'Pleuropulmonary blastoma' SubClassOf 'pulmonary blastoma' 'Pleuropulmonary blastoma' SubClassOf 'childhood cancer' http://purl.obolibrary.org/obo/MONDO_0008312 autosomal dominant prognathism 'autosomal dominant prognathism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'autosomal dominant prognathism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'autosomal dominant prognathism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011964 DPAGT1-CDG 'DPAGT1-CDG' SubClassOf 'congenital nervous system disorder' 'DPAGT1-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011968 autosomal recessive limb-girdle muscular dystrophy type 2D 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'qualitative or quantitative defects of alpha-sarcoglycan' 'autosomal recessive limb-girdle muscular dystrophy type 2D' SubClassOf 'qualitative or quantitative defects of alpha-sarcoglycan' http://purl.obolibrary.org/obo/MONDO_0011969 ALG8-CDG 'ALG8-CDG' SubClassOf 'congenital nervous system disorder' 'ALG8-CDG' SubClassOf 'neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_0009043 Familial porphyria cutanea tarda 'Familial porphyria cutanea tarda' SubClassOf 'inherited porphyria' 'Familial porphyria cutanea tarda' EquivalentTo 'porphyria cutanea tarda' and ('has modifier' some 'inherited') 'Familial porphyria cutanea tarda' EquivalentTo 'porphyria cutanea tarda' and ('bearer_of' some 'inherited') 'Familial porphyria cutanea tarda' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100498 http://purl.obolibrary.org/obo/MONDO_0011977 8q22.1 microdeletion syndrome '8q22.1 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '8q22.1 microdeletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011975 paternal uniparental disomy of chromosome 14 'paternal uniparental disomy of chromosome 14' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'paternal uniparental disomy of chromosome 14' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011976 lipodystrophy-intellectual disability-deafness syndrome 'lipodystrophy-intellectual disability-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011972 ovarian hyperstimulation syndrome 'ovarian hyperstimulation syndrome' SubClassOf 'has modifier' some 'rare' 'ovarian hyperstimulation syndrome' SubClassOf 'genetic disorder' 'ovarian hyperstimulation syndrome' SubClassOf 'bearer_of' some 'rare' 'ovarian hyperstimulation syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008337 familial pterygium of the conjunctiva 'familial pterygium of the conjunctiva' SubClassOf 'genetic nervous system disorder' 'familial pterygium of the conjunctiva' EquivalentTo 'pterygium' and ('has modifier' some 'inherited') 'familial pterygium of the conjunctiva' EquivalentTo 'pterygium' and ('bearer_of' some 'inherited') 'familial pterygium of the conjunctiva' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008335 short stature-craniofacial anomalies-genital hypoplasia syndrome 'short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short stature-craniofacial anomalies-genital hypoplasia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/DOID_0050890 synucleinopathy 'synucleinopathy' SubClassOf 'inherited neurodegenerative disorder' 'synucleinopathy' SubClassOf 'inborn errors of metabolism' 'synucleinopathy' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0008340 ptosis, hereditary congenital, 1 'ptosis, hereditary congenital, 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011995 cataract - congenital heart disease - neural tube defect syndrome 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'syndromic cataract' 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'has modifier' some 'congenital' 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'bearer_of' some 'congenital' 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'bearer_of' some 'rare' 'cataract - congenital heart disease - neural tube defect syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008357 radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf 'syndromic urogenital tract malformation' 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf 'syndromic disease' 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008371 Dowling-Degos disease 'Dowling-Degos disease' SubClassOf 'has modifier' some 'rare' 'Dowling-Degos disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008373 retinal arterial tortuosity 'retinal arterial tortuosity' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008389 autosomal dominant Robinow syndrome 'autosomal dominant Robinow syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'autosomal dominant Robinow syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0008387 ring dermoid of cornea 'ring dermoid of cornea' SubClassOf 'genetic disorder' 'ring dermoid of cornea' SubClassOf 'has modifier' some 'rare' 'ring dermoid of cornea' SubClassOf 'material entity' 'ring dermoid of cornea' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008394 Silver-Russell syndrome 'Silver-Russell syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Silver-Russell syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Silver-Russell syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008397 aplasia of lacrimal and salivary glands 'aplasia of lacrimal and salivary glands' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008395 Ruvalcaba syndrome 'Ruvalcaba syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Ruvalcaba syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Ruvalcaba syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Ruvalcaba syndrome' SubClassOf 'congenital nervous system disorder' 'Ruvalcaba syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000129 Bladder Small Cell Neuroendocrine Carcinoma 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'has modifier' some 'rare' 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'bearer_of' some 'rare' 'Bladder Small Cell Neuroendocrine Carcinoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000157 Central Nervous System Lymphoma 'Central Nervous System Lymphoma' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000152 Cavernous Hemangioma of the Face 'Cavernous Hemangioma of the Face' SubClassOf 'face disorder' 'Cavernous Hemangioma of the Face' SubClassOf 'head disorder' http://www.ebi.ac.uk/efo/EFO_1000161 Cervical Adenoid Cystic Carcinoma 'Cervical Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma of the cervix uteri' 'Cervical Adenoid Cystic Carcinoma' SubClassOf 'cervical adenocarcinoma' 'Cervical Adenoid Cystic Carcinoma' SubClassOf 'adenoid cystic carcinoma' http://www.ebi.ac.uk/efo/EFO_0000516 glaucoma 'glaucoma' SubClassOf 'eye disease' 'glaucoma' SubClassOf 'has_disease_location' some 'eye' 'glaucoma' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_0000519 glioblastoma multiforme 'glioblastoma multiforme' SubClassOf 'has modifier' some 'tumor grade 4, general grading system' 'glioblastoma multiforme' SubClassOf 'bearer_of' some 'tumor grade 4, general grading system' 'glioblastoma multiforme' SubClassOf 'astrocytoma' http://www.ebi.ac.uk/efo/EFO_1000174 Chondroid Chordoma 'Chondroid Chordoma' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000508 genetic disorder 'genetic disorder' SubClassOf 'has modifier' some 'inherited' 'genetic disorder' SubClassOf 'disease' 'genetic disorder' EquivalentTo 'disease' and ('has modifier' some 'inherited') 'genetic disorder' SubClassOf 'bearer_of' some 'inherited' 'genetic disorder' SubClassOf 'disease' 'genetic disorder' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000551 intracranial hemorrhage 'intracranial hemorrhage' SubClassOf 'cerebrovascular disorder' 'intracranial hemorrhage' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0011803 hereditary spastic paraplegia 7 'hereditary spastic paraplegia 7' SubClassOf 'syndromic hereditary optic neuropathy' 'hereditary spastic paraplegia 7' SubClassOf 'eye degenerative disorder' 'hereditary spastic paraplegia 7' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 7' SubClassOf 'facial paralysis' http://www.ebi.ac.uk/efo/EFO_0000546 injury 'injury' SubClassOf 'disease' 'injury' SubClassOf 'disease' http://purl.obolibrary.org/obo/HP_0004552 Scarring alopecia of scalp 'Scarring alopecia of scalp' SubClassOf 'genetic skin disease' 'Scarring alopecia of scalp' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0011823 developmental malformations-deafness-dystonia syndrome 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'syndromic genetic hearing loss' 'developmental malformations-deafness-dystonia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0000589 metabolic disease 'metabolic disease' SubClassOf 'disease' 'metabolic disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0011841 biotin-responsive basal ganglia disease 'biotin-responsive basal ganglia disease' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0008209 Char syndrome 'Char syndrome' SubClassOf 'neurovascular disorder' 'Char syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Char syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008201 Perry syndrome 'Perry syndrome' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0000499 follicular thyroid adenoma 'follicular thyroid adenoma' SubClassOf 'thyroid adenoma' 'follicular thyroid adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0008218 Hailey-Hailey disease 'Hailey-Hailey disease' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0011868 lethal congenital contracture syndrome 2 'lethal congenital contracture syndrome 2' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008211 pseudoleprechaunism syndrome, Patterson type 'pseudoleprechaunism syndrome, Patterson type' SubClassOf 'has modifier' some 'rare' 'pseudoleprechaunism syndrome, Patterson type' SubClassOf 'bearer_of' some 'rare' 'pseudoleprechaunism syndrome, Patterson type' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0011876 juvenile absence epilepsy 'juvenile absence epilepsy' SubClassOf 'genetic nervous system disorder' 'juvenile absence epilepsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008222 Andersen-Tawil syndrome 'Andersen-Tawil syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008221 prolidase deficiency 'prolidase deficiency' SubClassOf 'inborn disorder of peptide metabolism' 'prolidase deficiency' SubClassOf 'genetic skin disease' 'prolidase deficiency' SubClassOf 'neurometabolic disease' 'prolidase deficiency' SubClassOf 'skin disease' 'prolidase deficiency' SubClassOf 'inborn disorder of peptide metabolism' http://purl.obolibrary.org/obo/MONDO_0023868 melanoma associated retinopathy 'melanoma associated retinopathy' SubClassOf 'has modifier' some 'rare' 'melanoma associated retinopathy' SubClassOf 'material entity' 'melanoma associated retinopathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'congenital nervous system disorder' 'phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011882 skin fragility-woolly hair-palmoplantar keratoderma syndrome 'skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'syndromic hair shaft abnormality' 'skin fragility-woolly hair-palmoplantar keratoderma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011899 Noonan syndrome-like disorder with loose anagen hair 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Noonan syndrome-like disorder with loose anagen hair' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008244 piebaldism 'piebaldism' SubClassOf 'genetic skin disease' 'piebaldism' SubClassOf 'has modifier' some 'rare' 'piebaldism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008251 familial pityriasis rubra pilaris 'familial pityriasis rubra pilaris' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0011895 idiopathic hypereosinophilic syndrome 'idiopathic hypereosinophilic syndrome' EquivalentTo 'Hypereosinophilic syndrome' and ('has modifier' some 'idiopathic') 'idiopathic hypereosinophilic syndrome' EquivalentTo 'Hypereosinophilic syndrome' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0008259 familial spontaneous pneumothorax 'familial spontaneous pneumothorax' SubClassOf 'genetic disorder' 'familial spontaneous pneumothorax' SubClassOf 'has modifier' some 'rare' 'familial spontaneous pneumothorax' SubClassOf 'bearer_of' some 'rare' 'familial spontaneous pneumothorax' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008267 orofaciodigital syndrome V 'orofaciodigital syndrome V' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008265 polycystic liver disease 1 'polycystic liver disease 1' SubClassOf 'has modifier' some 'has an isolated presentation' 'polycystic liver disease 1' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0008295 sporadic porphyria cutanea tarda 'sporadic porphyria cutanea tarda' EquivalentTo 'porphyria cutanea tarda' and ('has modifier' some 'acquired') 'sporadic porphyria cutanea tarda' EquivalentTo 'porphyria cutanea tarda' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0008294 acute intermittent porphyria 'acute intermittent porphyria' SubClassOf 'acute disease' http://www.ebi.ac.uk/efo/EFO_1000077 AIDS-Related Primary Central Nervous System Lymphoma 'AIDS-Related Primary Central Nervous System Lymphoma' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0021272 inherited orthostatic hypotension 'inherited orthostatic hypotension' SubClassOf 'genetic nervous system disorder' 'inherited orthostatic hypotension' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_1414 Cholestasis-lymphedema syndrome 'Cholestasis-lymphedema syndrome' SubClassOf 'genetic skin disease' 'Cholestasis-lymphedema syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0045056 grade II meningioma 'grade II meningioma' EquivalentTo 'meningioma' and ('has modifier' some 'tumor grade 2, general grading system') 'grade II meningioma' SubClassOf 'has modifier' some 'tumor grade 2, general grading system' 'grade II meningioma' EquivalentTo 'meningioma' and ('bearer_of' some 'tumor grade 2, general grading system') 'grade II meningioma' SubClassOf 'bearer_of' some 'tumor grade 2, general grading system' http://www.orpha.net/ORDO/Orphanet_86917 Lymphedema - cleft palate 'Lymphedema - cleft palate' SubClassOf 'genetic skin disease' 'Lymphedema - cleft palate' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0010233 genotoxic compound exposure measurement 'genotoxic compound exposure measurement' SubClassOf 'is_about' some 'cancer' 'genotoxic compound exposure measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_0009266 refractory celiac disease 'refractory celiac disease' SubClassOf 'has modifier' some 'rare' 'refractory celiac disease' SubClassOf 'material entity' 'refractory celiac disease' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009267 delirium 'delirium' SubClassOf 'cognitive disorder' 'delirium' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002039 http://www.ebi.ac.uk/efo/EFO_0009254 optic nerve glioblastoma 'optic nerve glioblastoma' SubClassOf 'hypothalamic neoplasm' http://purl.obolibrary.org/obo/MONDO_0011717 hyperinsulinism-hyperammonemia syndrome 'hyperinsulinism-hyperammonemia syndrome' SubClassOf 'urea cycle disorder' 'hyperinsulinism-hyperammonemia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800153 http://purl.obolibrary.org/obo/MONDO_0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-obesity-prognathism-eye and skin anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011738 bilateral frontoparietal polymicrogyria 'bilateral frontoparietal polymicrogyria' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011730 fumaric aciduria 'fumaric aciduria' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011744 primary intraosseous venous malformation 'primary intraosseous venous malformation' SubClassOf 'genetic vascular anomaly' 'primary intraosseous venous malformation' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0008108 oculocerebrocutaneous syndrome 'oculocerebrocutaneous syndrome' SubClassOf 'genetic nervous system disorder' 'oculocerebrocutaneous syndrome' SubClassOf 'nervous system disease' 'oculocerebrocutaneous syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0009199 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' SubClassOf 'has modifier' some 'rare' 'Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008118 odontomatosis-aortae esophagus stenosis syndrome 'odontomatosis-aortae esophagus stenosis syndrome' SubClassOf 'has modifier' some 'rare' 'odontomatosis-aortae esophagus stenosis syndrome' SubClassOf 'material entity' 'odontomatosis-aortae esophagus stenosis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008116 oculopharyngeal muscular dystrophy 'oculopharyngeal muscular dystrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008113 Schilbach-Rott syndrome 'Schilbach-Rott syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Schilbach-Rott syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008111 oculodentodigital dysplasia 'oculodentodigital dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'oculodentodigital dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011772 B4GALT1-CDG 'B4GALT1-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0035740 acquired factor XI deficiency 'acquired factor XI deficiency' EquivalentTo 'factor XI deficiency' and ('has modifier' some 'acquired') 'acquired factor XI deficiency' EquivalentTo 'factor XI deficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0021107 narcolepsy 'narcolepsy' SubClassOf 'genetic nervous system disorder' 'narcolepsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008137 orofaciodigital syndrome X 'orofaciodigital syndrome X' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008136 isolated optic nerve hypoplasia 'isolated optic nerve hypoplasia' SubClassOf 'genetic disorder' 'isolated optic nerve hypoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800183 http://purl.obolibrary.org/obo/MONDO_0035737 acquired factor V deficiency 'acquired factor V deficiency' EquivalentTo 'factor V deficiency' and ('has modifier' some 'acquired') 'acquired factor V deficiency' EquivalentTo 'factor V deficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0011789 familial meningioma 'familial meningioma' SubClassOf 'genetic nervous system disorder' 'familial meningioma' EquivalentTo 'meningioma' and ('has modifier' some 'inherited') 'familial meningioma' SubClassOf 'genetic disorder' 'familial meningioma' EquivalentTo 'meningioma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0035738 acquired factor VII deficiency 'acquired factor VII deficiency' EquivalentTo 'factor VII deficiency' and ('has modifier' some 'acquired') 'acquired factor VII deficiency' EquivalentTo 'factor VII deficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0011783 ALG12-CDG 'ALG12-CDG' SubClassOf 'congenital nervous system disorder' 'ALG12-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011787 autosomal recessive limb-girdle muscular dystrophy type 2I 'autosomal recessive limb-girdle muscular dystrophy type 2I' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0060702 spondyloepimetaphyseal dysplasia, di rocco type 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, di rocco type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0060704 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 'neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0060707 Ververi-Brady syndrome 'Ververi-Brady syndrome' SubClassOf 'syndromic disease' 'Ververi-Brady syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008152 multicentric carpo-tarsal osteolysis with or without nephropathy 'multicentric carpo-tarsal osteolysis with or without nephropathy' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0011797 infantile-onset ascending hereditary spastic paralysis 'infantile-onset ascending hereditary spastic paralysis' SubClassOf 'hereditary motor neuron disease' 'infantile-onset ascending hereditary spastic paralysis' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0011795 anonychia-microcephaly syndrome 'anonychia-microcephaly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anonychia-microcephaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anonychia-microcephaly syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011790 Amish lethal microcephaly 'Amish lethal microcephaly' SubClassOf 'genetic nervous system disorder' 'Amish lethal microcephaly' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008157 Buschke-Ollendorff syndrome 'Buschke-Ollendorff syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0008153 progressive osseous heteroplasia 'progressive osseous heteroplasia' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0008163 otofaciocervical syndrome 'otofaciocervical syndrome' SubClassOf 'has modifier' some 'rare' 'otofaciocervical syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021142 acquired rippling muscle disease 'acquired rippling muscle disease' SubClassOf 'acquired skeletal muscle disease' 'acquired rippling muscle disease' EquivalentTo 'rippling muscle disease' and ('has modifier' some 'acquired') 'acquired rippling muscle disease' SubClassOf 'bearer_of' some 'acquired' 'acquired rippling muscle disease' SubClassOf 'material entity' 'acquired rippling muscle disease' EquivalentTo 'rippling muscle disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0008165 southeast Asian ovalocytosis 'southeast Asian ovalocytosis' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0021140 congenital 'congenital' SubClassOf 'has modifier' some 'congenital' 'congenital' SubClassOf 'material entity' 'congenital' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0060752 neurodevelopmental disorder with spasticity and poor growth 'neurodevelopmental disorder with spasticity and poor growth' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with spasticity and poor growth' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with spasticity and poor growth' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0060758 spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 'spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits' SubClassOf 'spinocerebellar ataxia type 42' 'spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits' SubClassOf 'Spinocerebellar ataxia type 42' http://purl.obolibrary.org/obo/MONDO_0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0021133 acquired factor XIII deficiency 'acquired factor XIII deficiency' EquivalentTo 'factor XIII deficiency' and ('has modifier' some 'acquired') 'acquired factor XIII deficiency' EquivalentTo 'factor XIII deficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0021134 acquired factor X deficiency 'acquired factor X deficiency' EquivalentTo 'factor X deficiency' and ('has modifier' some 'acquired') 'acquired factor X deficiency' EquivalentTo 'factor X deficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0008179 paroxysmal extreme pain disorder 'paroxysmal extreme pain disorder' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008185 hereditary chronic pancreatitis 'hereditary chronic pancreatitis' EquivalentTo 'chronic pancreatitis' and ('has modifier' some 'inherited') 'hereditary chronic pancreatitis' SubClassOf 'has modifier' some 'rare' 'hereditary chronic pancreatitis' SubClassOf 'bearer_of' some 'rare' 'hereditary chronic pancreatitis' EquivalentTo 'chronic pancreatitis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0008182 nasopalpebral lipoma-coloboma syndrome 'nasopalpebral lipoma-coloboma syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'nasopalpebral lipoma-coloboma syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008195 paramyotonia congenita of Von Eulenburg 'paramyotonia congenita of Von Eulenburg' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0021180 acquired xanthinuria 'acquired xanthinuria' EquivalentTo 'xanthinuria' and ('has modifier' some 'acquired') 'acquired xanthinuria' EquivalentTo 'xanthinuria' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0021181 inherited blood coagulation disorder 'inherited blood coagulation disorder' EquivalentTo 'blood coagulation disease' and ('has modifier' some 'inherited') 'inherited blood coagulation disorder' EquivalentTo 'blood coagulation disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0021184 deltaretrovirus infections 'deltaretrovirus infections' SubClassOf 'primary viral infectious disease' http://purl.obolibrary.org/obo/MONDO_0060779 acquired Fanconi syndrome 'acquired Fanconi syndrome' SubClassOf 'has modifier' some 'acquired' 'acquired Fanconi syndrome' EquivalentTo 'Fanconi renotubular syndrome' and ('has modifier' some 'acquired') 'acquired Fanconi syndrome' EquivalentTo 'Fanconi renotubular syndrome' and ('bearer_of' some 'acquired') 'acquired Fanconi syndrome' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0060760 intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf 'genetic nervous system disorder' 'intellectual developmental disorder with dysmorphic facies and behavioral abnormalities' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0060761 neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 'neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 'intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0060596 neurodevelopmental disorder with dysmorphic facies and distal limb anomalies 'neurodevelopmental disorder with dysmorphic facies and distal limb anomalies' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with dysmorphic facies and distal limb anomalies' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with dysmorphic facies and distal limb anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0060582 auditory neuropathy-optic atrophy syndrome 'auditory neuropathy-optic atrophy syndrome' SubClassOf 'neurometabolic disease' 'auditory neuropathy-optic atrophy syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'auditory neuropathy-optic atrophy syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0060589 facial palsy, congenital, with ptosis and velopharyngeal dysfunction 'facial palsy, congenital, with ptosis and velopharyngeal dysfunction' SubClassOf 'has modifier' some 'congenital' 'facial palsy, congenital, with ptosis and velopharyngeal dysfunction' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0060577 neurodevelopmental disorder with microcephaly, ataxia, and seizures 'neurodevelopmental disorder with microcephaly, ataxia, and seizures' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly, ataxia, and seizures' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with microcephaly, ataxia, and seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0060578 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 'neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://www.ebi.ac.uk/efo/EFO_0000717 systemic scleroderma 'systemic scleroderma' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0000737 well-differentiated sarcoma 'well-differentiated sarcoma' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'well-differentiated sarcoma' SubClassOf 'material entity' 'well-differentiated sarcoma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://www.orpha.net/ORDO/Orphanet_307067 Rare genetic disease with myoclonus as a major feature 'Rare genetic disease with myoclonus as a major feature' SubClassOf 'genetic nervous system disorder' 'Rare genetic disease with myoclonus as a major feature' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0000762 hepatocellular adenoma 'hepatocellular adenoma' SubClassOf 'liver neoplasm' 'hepatocellular adenoma' SubClassOf 'has modifier' some 'rare' 'hepatocellular adenoma' SubClassOf 'bearer_of' some 'rare' 'hepatocellular adenoma' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000765 AIDS 'AIDS' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0000767 idiopathic cardiomyopathy 'idiopathic cardiomyopathy' EquivalentTo 'cardiomyopathy' and ('has modifier' some 'idiopathic') 'idiopathic cardiomyopathy' EquivalentTo 'cardiomyopathy' and ('bearer_of' some 'idiopathic') http://www.ebi.ac.uk/efo/EFO_0009118 female reproductive endometrioid cancer 'female reproductive endometrioid cancer' SubClassOf 'cancer' 'female reproductive endometrioid cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://www.orpha.net/ORDO/Orphanet_98890 Early-onset X-linked optic atrophy 'Early-onset X-linked optic atrophy' SubClassOf 'syndromic hereditary optic neuropathy' 'Early-onset X-linked optic atrophy' SubClassOf 'hereditary optic neuropathy' http://www.ebi.ac.uk/efo/EFO_0009152 intellectual disability, autosomal dominant 52 'intellectual disability, autosomal dominant 52' SubClassOf 'intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009165 intellectual disability, autosomal dominant 53 'intellectual disability, autosomal dominant 53' SubClassOf 'intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009156 intellectual disability, autosomal dominant 48 'intellectual disability, autosomal dominant 48' SubClassOf 'intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011603 GNE myopathy 'GNE myopathy' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011604 spondylo-ocular syndrome 'spondylo-ocular syndrome' SubClassOf 'syndromic cataract' http://www.ebi.ac.uk/efo/EFO_0009164 intellectual disability, autosomal dominant 54 'intellectual disability, autosomal dominant 54' SubClassOf 'intellectual disability' http://www.ebi.ac.uk/efo/EFO_0009160 stromme syndrome 'stromme syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'stromme syndrome' SubClassOf 'genetic nervous system disorder' 'stromme syndrome' SubClassOf 'syndromic urogenital tract malformation' 'stromme syndrome' SubClassOf 'nephropathy-associated ciliopathy' 'stromme syndrome' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_0009068 dicer1 syndrome 'dicer1 syndrome' SubClassOf 'disease has feature' some 'pleuropulmonary blastoma' 'dicer1 syndrome' SubClassOf 'disease has feature' some 'Pleuropulmonary blastoma' http://purl.obolibrary.org/obo/MONDO_0011612 glycine encephalopathy 'glycine encephalopathy' SubClassOf 'cerebral organic aciduria' 'glycine encephalopathy' SubClassOf 'glycine metabolism disease' 'glycine encephalopathy' SubClassOf 'neurometabolic disease' 'glycine encephalopathy' SubClassOf 'brain disease' 'glycine encephalopathy' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0011610 dimethylglycine dehydrogenase deficiency 'dimethylglycine dehydrogenase deficiency' SubClassOf 'inborn disorder of serine family metabolism' 'dimethylglycine dehydrogenase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100477 http://purl.obolibrary.org/obo/MONDO_0023603 hereditary disorder of connective tissue 'hereditary disorder of connective tissue' EquivalentTo 'connective tissue disease' and ('has modifier' some 'inherited') 'hereditary disorder of connective tissue' EquivalentTo 'connective tissue disease' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0009072 mbd5 associated neurodevelopmental disorder 'mbd5 associated neurodevelopmental disorder' SubClassOf 'genetic nervous system disorder' 'mbd5 associated neurodevelopmental disorder' SubClassOf 'genetic disorder' 'mbd5 associated neurodevelopmental disorder' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009059 Spinocerebellar ataxia type 42 'Spinocerebellar ataxia type 42' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0011624 transaldolase deficiency 'transaldolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'transaldolase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0011629 MOGS-CDG 'MOGS-CDG' SubClassOf 'congenital nervous system disorder' 'MOGS-CDG' SubClassOf 'neurometabolic disease' 'MOGS-CDG' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009063 Wolfram-like syndrome 'Wolfram-like syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Wolfram-like syndrome' SubClassOf 'endocrine system disease' http://purl.obolibrary.org/obo/MONDO_0011634 rippling muscle disease 'rippling muscle disease' SubClassOf 'non-dystrophic myopathy' 'rippling muscle disease' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0011631 hemochromatosis type 4 'hemochromatosis type 4' SubClassOf 'has modifier' some 'rare' 'hemochromatosis type 4' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011640 genitopatellar syndrome 'genitopatellar syndrome' SubClassOf 'genetic nervous system disorder' 'genitopatellar syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0008009 monilethrix 'monilethrix' SubClassOf 'genetic epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0008006 Mobius syndrome 'Mobius syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Mobius syndrome' SubClassOf 'syndromic disease' 'Mobius syndrome' SubClassOf 'congenital nervous system disorder' 'Mobius syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008005 cardiospondylocarpofacial syndrome 'cardiospondylocarpofacial syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0008002 mirror movements 1 'mirror movements 1' SubClassOf 'familial congenital mirror movements' 'mirror movements 1' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100515 http://purl.obolibrary.org/obo/MONDO_0008019 mullerian aplasia and hyperandrogenism 'mullerian aplasia and hyperandrogenism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011669 hypotonia-cystinuria syndrome 'hypotonia-cystinuria syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' 'hypotonia-cystinuria syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0011667 maturity-onset diabetes of the young type 4 'maturity-onset diabetes of the young type 4' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0011668 maturity-onset diabetes of the young type 6 'maturity-onset diabetes of the young type 6' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0008029 Bethlem myopathy 'Bethlem myopathy' SubClassOf 'genetic nervous system disorder' 'Bethlem myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011676 PHACE syndrome 'PHACE syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'PHACE syndrome' SubClassOf 'congenital nervous system disorder' 'PHACE syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008038 ataxia-pancytopenia syndrome 'ataxia-pancytopenia syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011686 DNA ligase IV deficiency 'DNA ligase IV deficiency' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'DNA ligase IV deficiency' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0021022 hereditary hyperekplexia 'hereditary hyperekplexia' EquivalentTo 'hyperekplexia' and ('has modifier' some 'inherited') 'hereditary hyperekplexia' SubClassOf 'neurometabolic disease' 'hereditary hyperekplexia' EquivalentTo 'hyperekplexia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0021026 genetic epidermal appendage anomaly 'genetic epidermal appendage anomaly' SubClassOf 'genetic skin disease' 'genetic epidermal appendage anomaly' EquivalentTo 'epidermal appendage anomaly' and ('has modifier' some 'inherited') 'genetic epidermal appendage anomaly' EquivalentTo 'epidermal appendage anomaly' and ('bearer_of' some 'inherited') 'genetic epidermal appendage anomaly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021027 genetic hair anomaly 'genetic hair anomaly' SubClassOf 'hair anomaly' 'genetic hair anomaly' EquivalentTo 'hair anomaly' and ('has modifier' some 'inherited') 'genetic hair anomaly' SubClassOf 'genetic epidermal appendage anomaly' 'genetic hair anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'hereditary motor neuron disease' 'spinal muscular atrophy-progressive myoclonic epilepsy syndrome' SubClassOf 'motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0008043 myoclonus-cerebellar ataxia-deafness syndrome 'myoclonus-cerebellar ataxia-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0021028 genetic nail anomaly 'genetic nail anomaly' SubClassOf 'nail anomaly' 'genetic nail anomaly' EquivalentTo 'nail anomaly' and ('has modifier' some 'inherited') 'genetic nail anomaly' SubClassOf 'genetic epidermal appendage anomaly' 'genetic nail anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0021029 genetic sebaceous gland anomaly 'genetic sebaceous gland anomaly' EquivalentTo 'sebaceous gland anomaly' and ('has modifier' some 'inherited') 'genetic sebaceous gland anomaly' EquivalentTo 'sebaceous gland anomaly' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0008061 nail-patella syndrome 'nail-patella syndrome' SubClassOf 'syndromic nail anomaly' 'nail-patella syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0008060 nonsyndromic congenital nail disorder 1 'nonsyndromic congenital nail disorder 1' SubClassOf 'has modifier' some 'congenital' 'nonsyndromic congenital nail disorder 1' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0060622 neurodevelopmental disorder with severe motor impairment and absent language 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with severe motor impairment and absent language' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0060624 neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter 'neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0060627 glycosylphosphatidylinositol biosynthesis defect 15 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'glycosylphosphatidylinositol biosynthesis defect 15' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0021034 genetic alopecia 'genetic alopecia' SubClassOf 'genetic hair anomaly' 'genetic alopecia' EquivalentTo 'alopecia' and ('has modifier' some 'inherited') 'genetic alopecia' SubClassOf 'genetic epidermal appendage anomaly' 'genetic alopecia' EquivalentTo 'alopecia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0021069 malignant endocrine neoplasm 'malignant endocrine neoplasm' SubClassOf 'cancer' 'malignant endocrine neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0045033 opportunistic systemic mycosis 'opportunistic systemic mycosis' EquivalentTo 'systemic mycosis' and ('has modifier' some 'opportunistic infectious') 'opportunistic systemic mycosis' EquivalentTo 'systemic mycosis' and ('bearer_of' some 'opportunistic infectious') http://purl.obolibrary.org/obo/MONDO_0008097 linear nevus sebaceous syndrome 'linear nevus sebaceous syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008094 familial multiple nevi flammei 'familial multiple nevi flammei' SubClassOf 'genetic skin disease' 'familial multiple nevi flammei' SubClassOf 'genetic vascular anomaly' 'familial multiple nevi flammei' SubClassOf 'material entity' 'familial multiple nevi flammei' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008092 hereditary neutrophilia 'hereditary neutrophilia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0021058 neoplastic syndrome 'neoplastic syndrome' SubClassOf 'has modifier' some 'rare' 'neoplastic syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0060663 congenital heart defects, multiple types, 5 'congenital heart defects, multiple types, 5' SubClassOf 'has modifier' some 'congenital' 'congenital heart defects, multiple types, 5' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0060664 neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities 'neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0045023 acquired adrenogenital syndrome 'acquired adrenogenital syndrome' EquivalentTo 'adrenogenital syndrome' and ('has modifier' some 'acquired') 'acquired adrenogenital syndrome' EquivalentTo 'adrenogenital syndrome' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0060640 neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy 'neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0060641 neurodevelopmental disorder with or without seizures and gait abnormalities 'neurodevelopmental disorder with or without seizures and gait abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with or without seizures and gait abnormalities' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with or without seizures and gait abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0060642 neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features 'neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/UBERON_0000045 ganglion 'ganglion' SubClassOf 'part_of' some 'anatomical system' http://www.ebi.ac.uk/efo/EFO_0009425 Yersinia pestis infectious disease 'Yersinia pestis infectious disease' SubClassOf 'has modifier' some 'rare' 'Yersinia pestis infectious disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0060490 neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies 'neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0060491 neurodevelopmental disorder with involuntary movements 'neurodevelopmental disorder with involuntary movements' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with involuntary movements' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with involuntary movements' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0011504 NDE1-related microhydranencephaly 'NDE1-related microhydranencephaly' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011518 Wiedemann-Steiner syndrome 'Wiedemann-Steiner syndrome' SubClassOf 'genetic nervous system disorder' 'Wiedemann-Steiner syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011510 Bohring-Opitz syndrome 'Bohring-Opitz syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Bohring-Opitz syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011537 macrocephaly-autism syndrome 'macrocephaly-autism syndrome' SubClassOf 'has modifier' some 'rare' 'macrocephaly-autism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011533 temtamy preaxial brachydactyly syndrome 'temtamy preaxial brachydactyly syndrome' SubClassOf 'congenital nervous system disorder' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'syndromic genetic hearing loss' 'temtamy preaxial brachydactyly syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011534 Charcot-Marie-Tooth disease type 4G 'Charcot-Marie-Tooth disease type 4G' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0011551 TH-deficient dopa-responsive dystonia 'TH-deficient dopa-responsive dystonia' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0011569 Charcot-Marie-Tooth disease type 2B1 'Charcot-Marie-Tooth disease type 2B1' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011577 myopathy, proximal, and ophthalmoplegia 'myopathy, proximal, and ophthalmoplegia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011570 Charcot-Marie-Tooth disease type 2B2 'Charcot-Marie-Tooth disease type 2B2' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0060502 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'syndromic hereditary optic neuropathy' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0011595 nonsyndromic congenital nail disorder 7 'nonsyndromic congenital nail disorder 7' SubClassOf 'has modifier' some 'congenital' 'nonsyndromic congenital nail disorder 7' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0600005 ganglion cell inner plexiform layer thickness measurement 'ganglion cell inner plexiform layer thickness measurement' SubClassOf 'is_about' some 'glaucoma' 'ganglion cell inner plexiform layer thickness measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0005041 http://www.ebi.ac.uk/efo/EFO_0600002 retinal layer thickness measurement 'retinal layer thickness measurement' SubClassOf 'is_about' some 'glaucoma' 'retinal layer thickness measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0005041 http://www.ebi.ac.uk/efo/EFO_0600004 retinal nerve fibre layer thickness measurement 'retinal nerve fibre layer thickness measurement' SubClassOf 'is_about' some 'glaucoma' 'retinal nerve fibre layer thickness measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0005041 http://www.orpha.net/ORDO/Orphanet_33001 Lymphedema - distichiasis 'Lymphedema - distichiasis' SubClassOf 'genetic skin disease' 'Lymphedema - distichiasis' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_371439 Genetic cerebrovascular dementia 'Genetic cerebrovascular dementia' SubClassOf 'genetic central nervous system and retinal vascular disease' http://www.ebi.ac.uk/efo/EFO_0009300 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf 'intellectual disability' 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://www.ebi.ac.uk/efo/EFO_0600087 narrow occludable anterior chamber angle 'narrow occludable anterior chamber angle' SubClassOf 'is_about' some 'glaucoma' 'narrow occludable anterior chamber angle' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0005041 http://www.ebi.ac.uk/efo/EFO_0009332 executive function measurement 'executive function measurement' SubClassOf 'is_about' some 'bipolar disorder' 'executive function measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0004985 http://purl.obolibrary.org/obo/MONDO_0011405 poikiloderma with neutropenia 'poikiloderma with neutropenia' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0011402 congenital cataracts-facial dysmorphism-neuropathy syndrome 'congenital cataracts-facial dysmorphism-neuropathy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011417 hemochromatosis type 3 'hemochromatosis type 3' SubClassOf 'has modifier' some 'rare' 'hemochromatosis type 3' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011411 Chudley-McCullough syndrome 'Chudley-McCullough syndrome' SubClassOf 'syndromic genetic hearing loss' 'Chudley-McCullough syndrome' SubClassOf 'disorder of development or morphogenesis' 'Chudley-McCullough syndrome' SubClassOf 'material entity' 'Chudley-McCullough syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0100659 Abnormal cerebral vascular morphology 'Abnormal cerebral vascular morphology' SubClassOf 'Abnormality of cardiovascular system morphology' http://purl.obolibrary.org/obo/MONDO_0011424 Carney triad 'Carney triad' SubClassOf 'has modifier' some 'acquired' 'Carney triad' SubClassOf 'bearer_of' some 'acquired' http://www.orpha.net/ORDO/Orphanet_1008 Alopecia - epilepsy - pyorrhea - intellectual disability 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'genetic skin disease' 'Alopecia - epilepsy - pyorrhea - intellectual disability' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0011449 Salla disease 'Salla disease' SubClassOf 'disorder of carbohydrate absorption and transport' http://www.orpha.net/ORDO/Orphanet_1014 Alopecia - intellectual disability - hypergonadotropic hypogonadism 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'genetic skin disease' 'Alopecia - intellectual disability - hypergonadotropic hypogonadism' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0011445 hereditary spastic paraplegia 11 'hereditary spastic paraplegia 11' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011457 ataxia-telangiectasia-like disorder 'ataxia-telangiectasia-like disorder' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0011487 Huntington disease-like 3 'Huntington disease-like 3' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018715 congenital hemangioma 'congenital hemangioma' SubClassOf 'has modifier' some 'congenital' 'congenital hemangioma' SubClassOf 'has modifier' some 'rare' 'congenital hemangioma' SubClassOf 'bearer_of' some 'congenital' 'congenital hemangioma' SubClassOf 'bearer_of' some 'rare' 'congenital hemangioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018740 drug-induced methemoglobinemia 'drug-induced methemoglobinemia' EquivalentTo 'methemoglobinemia' and ('has modifier' some 'acquired') 'drug-induced methemoglobinemia' EquivalentTo 'methemoglobinemia' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0018751 genetic otorhinolaryngologic disease 'genetic otorhinolaryngologic disease' SubClassOf 'has modifier' some 'rare' 'genetic otorhinolaryngologic disease' EquivalentTo 'otorhinolaryngologic disease' and ('has modifier' some 'inherited') 'genetic otorhinolaryngologic disease' SubClassOf 'bearer_of' some 'rare' 'genetic otorhinolaryngologic disease' EquivalentTo 'otorhinolaryngologic disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016107 myotonic dystrophy 'myotonic dystrophy' SubClassOf 'genetic nervous system disorder' 'myotonic dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016105 acquired skeletal muscle disease 'acquired skeletal muscle disease' EquivalentTo 'skeletal muscle disorder' and ('has modifier' some 'acquired') 'acquired skeletal muscle disease' SubClassOf 'has modifier' some 'acquired' 'acquired skeletal muscle disease' EquivalentTo 'skeletal muscle disorder' and ('bearer_of' some 'acquired') 'acquired skeletal muscle disease' SubClassOf 'bearer_of' some 'acquired' 'acquired skeletal muscle disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016110 non-dystrophic myopathy 'non-dystrophic myopathy' SubClassOf 'myopathy' 'non-dystrophic myopathy' SubClassOf 'skeletal muscle disorder' 'non-dystrophic myopathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0016112 inclusion myopathy 'inclusion myopathy' SubClassOf 'non-dystrophic myopathy' 'inclusion myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0018771 congenital anomaly of ventricular septum 'congenital anomaly of ventricular septum' SubClassOf 'has modifier' some 'congenital' 'congenital anomaly of ventricular septum' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018788 COL4A1 or COL4A2-related cerebral small vessel disease 'COL4A1 or COL4A2-related cerebral small vessel disease' SubClassOf 'cerebral small vessel disease' 'COL4A1 or COL4A2-related cerebral small vessel disease' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0016121 congenital myotonia 'congenital myotonia' SubClassOf 'has modifier' some 'congenital' 'congenital myotonia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018786 pontine autosomal dominant microangiopathy with leukoencephalopathy 'pontine autosomal dominant microangiopathy with leukoencephalopathy' SubClassOf 'cerebral small vessel disease' 'pontine autosomal dominant microangiopathy with leukoencephalopathy' SubClassOf 'cerebrovascular disorder' http://www.orpha.net/ORDO/Orphanet_53 Albers-Schönberg osteopetrosis 'Albers-Schönberg osteopetrosis' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0018781 KID syndrome 'KID syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016139 qualitative or quantitative protein defects in neuromuscular diseases 'qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf 'genetic nervous system disorder' 'qualitative or quantitative protein defects in neuromuscular diseases' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0018791 Moyomoya angiopathy 'Moyomoya angiopathy' SubClassOf 'has modifier' some 'rare' 'Moyomoya angiopathy' SubClassOf 'disorder of central nervous system or retinal vasculature' 'Moyomoya angiopathy' SubClassOf 'bearer_of' some 'rare' 'Moyomoya angiopathy' SubClassOf 'cerebrovascular disorder' 'Moyomoya angiopathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0004166 hereditary fallopian tube carcinoma 'hereditary fallopian tube carcinoma' EquivalentTo 'Fallopian Tube Carcinoma' and ('has modifier' some 'inherited') 'hereditary fallopian tube carcinoma' EquivalentTo 'Fallopian Tube Carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016158 narcolepsy-cataplexy syndrome 'narcolepsy-cataplexy syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004808 L lactate dehydrogenase measurement 'L lactate dehydrogenase measurement' SubClassOf ('is_about' some 'Hodgkins lymphoma') or ('is_about' some 'cancer') or ('is_about' some 'anemia (phenotype)') 'L lactate dehydrogenase measurement' SubClassOf ('is_about' some http://purl.obolibrary.org/obo/MONDO_0004992) or ('is_about' some 'Hodgkins lymphoma') or ('is_about' some 'anemia (phenotype)') http://purl.obolibrary.org/obo/MONDO_0004187 nodular fasciitis 'nodular fasciitis' SubClassOf 'has modifier' some 'rare' 'nodular fasciitis' SubClassOf 'material entity' 'nodular fasciitis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004832 optic disc size measurement 'optic disc size measurement' SubClassOf 'is_about' some 'glaucoma' 'optic disc size measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0005041 http://purl.obolibrary.org/obo/MONDO_0016165 genetic hypoparathyroidism 'genetic hypoparathyroidism' EquivalentTo 'hypoparathyroidism' and ('has modifier' some 'inherited') 'genetic hypoparathyroidism' EquivalentTo 'hypoparathyroidism' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016166 genetic hyperparathyroidism 'genetic hyperparathyroidism' EquivalentTo 'hyperparathyroidism' and ('has modifier' some 'inherited') 'genetic hyperparathyroidism' EquivalentTo 'hyperparathyroidism' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016167 optic pathway glioma 'optic pathway glioma' SubClassOf 'pituitary tumor' 'optic pathway glioma' SubClassOf 'pituitary hormone deficiency from tumoral origin' 'optic pathway glioma' SubClassOf 'brain neoplasm' http://purl.obolibrary.org/obo/MONDO_0043765 presbycusis 'presbycusis' SubClassOf 'has modifier' some 'acquired' 'presbycusis' SubClassOf 'bearer_of' some 'acquired' 'presbycusis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0004739 circulating cell free DNA measurement 'circulating cell free DNA measurement' SubClassOf 'is_about' some ('cancer' and ('has_role' some 'biomarker')) 'circulating cell free DNA measurement' SubClassOf 'is_about' some (http://purl.obolibrary.org/obo/MONDO_0004992 and ('has_role' some 'biomarker')) http://www.ebi.ac.uk/efo/EFO_0004728 serum amyloid A protein measurement 'serum amyloid A protein measurement' SubClassOf 'is_about' some 'cancer' 'serum amyloid A protein measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_0004762 vascular endothelial growth factor measurement 'vascular endothelial growth factor measurement' SubClassOf 'is_about' some ('cancer' and ('has_role' some 'biomarker')) 'vascular endothelial growth factor measurement' SubClassOf 'is_about' some (http://purl.obolibrary.org/obo/MONDO_0004992 and ('has_role' some 'biomarker')) http://www.orpha.net/ORDO/Orphanet_79452 Milroy disease 'Milroy disease' SubClassOf 'genetic skin disease' 'Milroy disease' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0018609 syndromic hereditary optic neuropathy 'syndromic hereditary optic neuropathy' EquivalentTo 'hereditary optic neuropathy' and ('has modifier' some 'has a syndromic presentation') 'syndromic hereditary optic neuropathy' SubClassOf 'syndromic disease' 'syndromic hereditary optic neuropathy' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0018612 congenital hypothyroidism 'congenital hypothyroidism' SubClassOf 'has modifier' some 'congenital' 'congenital hypothyroidism' SubClassOf 'has modifier' some 'rare' 'congenital hypothyroidism' EquivalentTo 'hypothyroidism' and ('has modifier' some 'congenital') 'congenital hypothyroidism' SubClassOf 'bearer_of' some 'rare' 'congenital hypothyroidism' EquivalentTo 'hypothyroidism' and ('bearer_of' some 'congenital') 'congenital hypothyroidism' SubClassOf 'material entity' 'congenital hypothyroidism' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018614 undetermined early-onset epileptic encephalopathy 'undetermined early-onset epileptic encephalopathy' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0018634 hereditary amyloidosis 'hereditary amyloidosis' EquivalentTo 'amyloidosis' and ('has modifier' some 'inherited') 'hereditary amyloidosis' EquivalentTo 'amyloidosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018648 Keratocystic odontogenic tumor 'Keratocystic odontogenic tumor' SubClassOf 'has modifier' some 'rare' 'Keratocystic odontogenic tumor' SubClassOf 'material entity' 'Keratocystic odontogenic tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018656 tremor-ataxia-central hypomyelination syndrome 'tremor-ataxia-central hypomyelination syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0016006 Cockayne syndrome 'Cockayne syndrome' SubClassOf 'hereditary photodermatosis' 'Cockayne syndrome' SubClassOf 'syndromic genetic hearing loss' 'Cockayne syndrome' SubClassOf 'syndromic intellectual disability' 'Cockayne syndrome' SubClassOf 'syndromic retinitis pigmentosa' 'Cockayne syndrome' SubClassOf 'eye degenerative disorder' 'Cockayne syndrome' SubClassOf 'progeroid syndrome' 'Cockayne syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Cockayne syndrome' SubClassOf 'syndromic disease' 'Cockayne syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016001 2-hydroxyglutaric aciduria '2-hydroxyglutaric aciduria' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018661 Zika virus infectious disease 'Zika virus infectious disease' SubClassOf 'has modifier' some 'rare' 'Zika virus infectious disease' SubClassOf 'material entity' 'Zika virus infectious disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0004033 familial ovarian carcinoma 'familial ovarian carcinoma' EquivalentTo 'ovarian carcinoma' and ('has modifier' some 'inherited') 'familial ovarian carcinoma' SubClassOf 'familial ovarian cancer' 'familial ovarian carcinoma' SubClassOf 'ovarian carcinoma' http://purl.obolibrary.org/obo/MONDO_0016027 benign neonatal seizures 'benign neonatal seizures' SubClassOf 'genetic nervous system disorder' 'benign neonatal seizures' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016022 early myoclonic encephalopathy 'early myoclonic encephalopathy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016025 myoclonic-astastic epilepsy 'myoclonic-astastic epilepsy' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0018686 acquired Creutzfeldt-Jakob disease 'acquired Creutzfeldt-Jakob disease' EquivalentTo 'Creutzfeldt Jacob Disease' and ('has modifier' some 'acquired') 'acquired Creutzfeldt-Jakob disease' SubClassOf 'has modifier' some 'acquired' 'acquired Creutzfeldt-Jakob disease' SubClassOf 'bearer_of' some 'acquired' 'acquired Creutzfeldt-Jakob disease' EquivalentTo 'Creutzfeldt Jacob Disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0018683 acquired ichthyosis 'acquired ichthyosis' EquivalentTo 'ichthyosis' and ('has modifier' some 'acquired') 'acquired ichthyosis' SubClassOf 'has modifier' some 'acquired' 'acquired ichthyosis' SubClassOf 'bearer_of' some 'acquired' 'acquired ichthyosis' EquivalentTo 'ichthyosis' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0016033 Cornelia de Lange syndrome 'Cornelia de Lange syndrome' SubClassOf 'genetic nervous system disorder' 'Cornelia de Lange syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018696 corticobasal syndrome 'corticobasal syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018698 hereditary neuroendocrine tumor of small intestine 'hereditary neuroendocrine tumor of small intestine' EquivalentTo 'small intestine neuroendocrine tumor' and ('has modifier' some 'inherited') 'hereditary neuroendocrine tumor of small intestine' EquivalentTo 'small intestine neuroendocrine tumor' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016047 endophthalmitis 'endophthalmitis' SubClassOf 'globe disease' http://purl.obolibrary.org/obo/MONDO_0016040 harlequin syndrome 'harlequin syndrome' SubClassOf 'has modifier' some 'rare' 'harlequin syndrome' SubClassOf 'material entity' 'harlequin syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016059 cleft lip/palate-deafness-sacral lipoma syndrome 'cleft lip/palate-deafness-sacral lipoma syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'cleft lip/palate-deafness-sacral lipoma syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016056 isolated congenital microcephaly 'isolated congenital microcephaly' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016051 cleft lip-retinopathy syndrome 'cleft lip-retinopathy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cleft lip-retinopathy syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'cleft lip-retinopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016052 atypical autism 'atypical autism' SubClassOf 'has modifier' some 'rare' 'atypical autism' SubClassOf 'bearer_of' some 'rare' 'atypical autism' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016070 hereditary gingival fibromatosis 'hereditary gingival fibromatosis' SubClassOf 'has modifier' some 'rare' 'hereditary gingival fibromatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016072 anomaly of puberty or/and menstrual cycle of genetic origin 'anomaly of puberty or/and menstrual cycle of genetic origin' EquivalentTo 'anomaly of puberty or/and menstrual cycle' and ('has modifier' some 'inherited') 'anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'has modifier' some 'rare' 'anomaly of puberty or/and menstrual cycle of genetic origin' EquivalentTo 'anomaly of puberty or/and menstrual cycle' and ('bearer_of' some 'inherited') 'anomaly of puberty or/and menstrual cycle of genetic origin' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004610 acute lung injury 'acute lung injury' SubClassOf 'acute disease' 'acute lung injury' SubClassOf 'injury' http://purl.obolibrary.org/obo/MONDO_0016067 Crandall syndrome 'Crandall syndrome' SubClassOf 'syndromic hair shaft abnormality' 'Crandall syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016064 cleft palate 'cleft palate' SubClassOf 'disorder of facial skeleton' http://purl.obolibrary.org/obo/MONDO_0016083 FLOTCH syndrome 'FLOTCH syndrome' SubClassOf 'syndromic nail anomaly' 'FLOTCH syndrome' SubClassOf 'subcutaneous tissue disorder' http://purl.obolibrary.org/obo/MONDO_0016073 syndromic microphthalmia 'syndromic microphthalmia' EquivalentTo 'microphthalmia' and ('has modifier' some 'has a syndromic presentation') 'syndromic microphthalmia' EquivalentTo 'microphthalmia' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0016075 filariasis 'filariasis' SubClassOf 'has modifier' some 'rare' 'filariasis' SubClassOf 'bearer_of' some 'rare' 'filariasis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency 'hypoxanthine-guanine phosphoribosyltransferase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0016085 Cole-Carpenter syndrome 'Cole-Carpenter syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cole-Carpenter syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016087 progressive non-infectious anterior vertebral fusion 'progressive non-infectious anterior vertebral fusion' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'progressive non-infectious anterior vertebral fusion' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_0004627 IGF-1 measurement 'IGF-1 measurement' SubClassOf 'is_about' some ('cancer' and ('has_role' some 'biomarker')) 'IGF-1 measurement' SubClassOf 'is_about' some (http://purl.obolibrary.org/obo/MONDO_0004992 and ('has_role' some 'biomarker')) http://purl.obolibrary.org/obo/MONDO_0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 'symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers' SubClassOf 'dilated cardiomyopathy 3B' http://www.ebi.ac.uk/efo/EFO_0004695 intraocular pressure measurement 'intraocular pressure measurement' SubClassOf 'is_about' some 'glaucoma' 'intraocular pressure measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0005041 http://purl.obolibrary.org/obo/MONDO_0018506 mesenchymal tumor of small intestine 'mesenchymal tumor of small intestine' SubClassOf 'has modifier' some 'rare' 'mesenchymal tumor of small intestine' SubClassOf 'bearer_of' some 'rare' 'mesenchymal tumor of small intestine' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018502 hereditary gastric cancer 'hereditary gastric cancer' EquivalentTo 'gastric cancer' and ('has modifier' some 'inherited') 'hereditary gastric cancer' EquivalentTo 'gastric cancer' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018513 squamous cell carcinoma of colon 'squamous cell carcinoma of colon' SubClassOf 'has modifier' some 'rare' 'squamous cell carcinoma of colon' SubClassOf 'bearer_of' some 'rare' 'squamous cell carcinoma of colon' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018515 squamous cell carcinoma of rectum 'squamous cell carcinoma of rectum' SubClassOf 'has modifier' some 'rare' 'squamous cell carcinoma of rectum' SubClassOf 'material entity' 'squamous cell carcinoma of rectum' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018511 epithelial tumor of the appendix 'epithelial tumor of the appendix' SubClassOf 'has modifier' some 'rare' 'epithelial tumor of the appendix' SubClassOf 'bearer_of' some 'rare' 'epithelial tumor of the appendix' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018521 squamous cell carcinoma of pancreas 'squamous cell carcinoma of pancreas' SubClassOf 'has modifier' some 'rare' 'squamous cell carcinoma of pancreas' SubClassOf 'bearer_of' some 'rare' 'squamous cell carcinoma of pancreas' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1000882 coronary stenosis 'coronary stenosis' SubClassOf 'coronary artery disease' 'coronary stenosis' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000886 cutaneous mastocytosis 'cutaneous mastocytosis' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0018541 familial hypoaldosteronism 'familial hypoaldosteronism' SubClassOf 'has modifier' some 'rare' 'familial hypoaldosteronism' SubClassOf 'material entity' 'familial hypoaldosteronism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018544 adrenoleukodystrophy 'adrenoleukodystrophy' SubClassOf 'neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_1000890 Dandy-Walker syndrome 'Dandy-Walker syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'eye degenerative disorder' 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'syndromic hereditary optic neuropathy' 'spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder' SubClassOf 'facial paralysis' http://purl.obolibrary.org/obo/MONDO_0043543 iatrogenic disease 'iatrogenic disease' EquivalentTo 'disease' and ('has modifier' some 'iatrogenic') 'iatrogenic disease' SubClassOf 'has modifier' some 'iatrogenic' 'iatrogenic disease' SubClassOf 'bearer_of' some 'iatrogenic' 'iatrogenic disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018582 GCGR-related hyperglucagonemia 'GCGR-related hyperglucagonemia' SubClassOf 'has modifier' some 'rare' 'GCGR-related hyperglucagonemia' SubClassOf 'material entity' 'GCGR-related hyperglucagonemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/HP_0000272 Malar flattening 'Malar flattening' SubClassOf 'Abnormality of the face' http://www.ebi.ac.uk/efo/EFO_1000805 angioid streaks 'angioid streaks' SubClassOf 'genetic nervous system disorder' 'angioid streaks' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000817 apparent mineralocorticoid excess syndrome 'apparent mineralocorticoid excess syndrome' SubClassOf 'syndromic dyslipidemia' 'apparent mineralocorticoid excess syndrome' SubClassOf 'steroid inherited metabolic disorder' 'apparent mineralocorticoid excess syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000822 ascorbic acid deficiency 'ascorbic acid deficiency' SubClassOf 'disorder of organic acid metabolism' 'ascorbic acid deficiency' SubClassOf 'carbohydrate metabolism disease' 'ascorbic acid deficiency' SubClassOf 'nutritional deficiency disease' 'ascorbic acid deficiency' SubClassOf 'nutritional deficiency disease' http://www.ebi.ac.uk/efo/EFO_1000852 carcinoid syndrome 'carcinoid syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000850 burning mouth syndrome 'burning mouth syndrome' SubClassOf 'has modifier' some 'rare' 'burning mouth syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018429 14q24.1q24.3 microdeletion syndrome '14q24.1q24.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018428 9q31.1q31.3 microdeletion syndrome '9q31.1q31.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '9q31.1q31.3 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018425 Huntington disease-like syndrome due to C9ORF72 expansions 'Huntington disease-like syndrome due to C9ORF72 expansions' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018424 inherited lipoic acid biosynthesis defect 'inherited lipoic acid biosynthesis defect' SubClassOf 'disorder of organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0018438 eosinophilic gastrointestinal disease 'eosinophilic gastrointestinal disease' SubClassOf 'has modifier' some 'rare' 'eosinophilic gastrointestinal disease' SubClassOf 'bearer_of' some 'rare' 'eosinophilic gastrointestinal disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018440 autosomal recessive distal renal tubular acidosis 'autosomal recessive distal renal tubular acidosis' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0043424 digestive system infectious disorder 'digestive system infectious disorder' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0018459 isolated glycerol kinase deficiency 'isolated glycerol kinase deficiency' EquivalentTo 'inborn glycerol kinase deficiency' and ('has modifier' some 'has an isolated presentation') 'isolated glycerol kinase deficiency' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated glycerol kinase deficiency' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated glycerol kinase deficiency' EquivalentTo 'inborn glycerol kinase deficiency' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0018454 dysostosis of genetic origin 'dysostosis of genetic origin' EquivalentTo 'dysostosis' and ('has modifier' some 'inherited') 'dysostosis of genetic origin' EquivalentTo 'dysostosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018469 pulmonary non-tuberculous mycobacterial infection 'pulmonary non-tuberculous mycobacterial infection' SubClassOf 'has modifier' some 'rare' 'pulmonary non-tuberculous mycobacterial infection' SubClassOf 'material entity' 'pulmonary non-tuberculous mycobacterial infection' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018477 bilirubin encephalopathy 'bilirubin encephalopathy' SubClassOf 'neurometabolic disease' 'bilirubin encephalopathy' SubClassOf 'brain disease' http://purl.obolibrary.org/obo/MONDO_0018492 hereditary clear cell renal cell carcinoma 'hereditary clear cell renal cell carcinoma' EquivalentTo 'clear cell renal carcinoma' and ('has modifier' some 'inherited') 'hereditary clear cell renal cell carcinoma' EquivalentTo 'clear cell renal carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018493 malignant hyperthermia of anesthesia 'malignant hyperthermia of anesthesia' SubClassOf 'genetic nervous system disorder' 'malignant hyperthermia of anesthesia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018496 ARX-related encephalopathy-brain malformation spectrum 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf 'syndromic urogenital tract malformation' 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf 'ARX-related epileptic encephalopathy' 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf 'X-linked syndromic intellectual disability' 'ARX-related encephalopathy-brain malformation spectrum' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1000922 enterotoxemia 'enterotoxemia' SubClassOf 'animal disease' 'enterotoxemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024985 'enterotoxemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0025003 'enterotoxemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024950 'enterotoxemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024990 'enterotoxemia' SubClassOf 'cattle disease' http://purl.obolibrary.org/obo/MONDO_0031481 microcephaly, epilepsy, and diabetes syndrome 1 'microcephaly, epilepsy, and diabetes syndrome 1' SubClassOf 'has modifier' some 'rare' 'microcephaly, epilepsy, and diabetes syndrome 1' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000928 Erysipelothrix rhusiopathiae infectious disease 'Erysipelothrix rhusiopathiae infectious disease' SubClassOf 'Erysipelothrix infectious disease' 'Erysipelothrix rhusiopathiae infectious disease' SubClassOf 'Erysipelothrix infectious disease' http://www.ebi.ac.uk/efo/EFO_1000934 eyelid neoplasm 'eyelid neoplasm' SubClassOf 'has modifier' some 'rare' 'eyelid neoplasm' SubClassOf 'bearer_of' some 'rare' 'eyelid neoplasm' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0004869 YKL40 measurement 'YKL40 measurement' SubClassOf ('is_about' some 'asthma') or ('is_about' some 'cancer') 'YKL40 measurement' SubClassOf ('is_about' some 'asthma') or ('is_about' some http://purl.obolibrary.org/obo/MONDO_0004992) http://www.ebi.ac.uk/efo/EFO_1000939 freemartinism 'freemartinism' SubClassOf 'sex chromosome disorder of sex development' 'freemartinism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700105 http://www.ebi.ac.uk/efo/EFO_1000940 Frey Syndrome 'Frey Syndrome' SubClassOf 'genetic nervous system disorder' 'Frey Syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004895 Tourette syndrome 'Tourette syndrome' SubClassOf 'genetic nervous system disorder' 'Tourette syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008908 MGAT2-CDG 'MGAT2-CDG' SubClassOf 'neurometabolic disease' 'MGAT2-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008907 PMM2-CDG 'PMM2-CDG' SubClassOf 'congenital nervous system disorder' 'PMM2-CDG' SubClassOf 'neurometabolic disease' 'PMM2-CDG' SubClassOf 'genetic skin disease' 'PMM2-CDG' SubClassOf 'bearer_of' some 'rare' 'PMM2-CDG' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0008915 dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'has modifier' some 'rare' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'genetic disorder' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'material entity' 'dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_300359 PLCG2-associated antibody deficiency and immune dysregulation 'PLCG2-associated antibody deficiency and immune dysregulation' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0008919 systemic primary carnitine deficiency disease 'systemic primary carnitine deficiency disease' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0008917 heart defects-limb shortening syndrome 'heart defects-limb shortening syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart defects-limb shortening syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart defects-limb shortening syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008924 congenital cataract-ichthyosis syndrome 'congenital cataract-ichthyosis syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0008928 cataract-ataxia-deafness syndrome 'cataract-ataxia-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0008948 cerebrotendinous xanthomatosis 'cerebrotendinous xanthomatosis' SubClassOf 'cerebral organic aciduria' 'cerebrotendinous xanthomatosis' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'hepatic fibrosis-renal cysts-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008952 cerebrofaciothoracic dysplasia 'cerebrofaciothoracic dysplasia' SubClassOf 'genetic nervous system disorder' 'cerebrofaciothoracic dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0008966 Aagenaes syndrome 'Aagenaes syndrome' SubClassOf 'has modifier' some 'rare' 'Aagenaes syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008965 CHARGE syndrome 'CHARGE syndrome' SubClassOf 'syndromic genetic hearing loss' 'CHARGE syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'CHARGE syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'CHARGE syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008962 Griscelli syndrome type 1 'Griscelli syndrome type 1' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0008960 Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome 'Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome' SubClassOf 'syndromic genetic hearing loss' http://www.ebi.ac.uk/efo/EFO_1000639 acquired metabolic disease 'acquired metabolic disease' EquivalentTo 'metabolic disease' and ('has modifier' some 'acquired') 'acquired metabolic disease' SubClassOf 'has modifier' some 'acquired' 'acquired metabolic disease' SubClassOf 'bearer_of' some 'acquired' 'acquired metabolic disease' SubClassOf 'material entity' 'acquired metabolic disease' EquivalentTo 'metabolic disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0008988 citrullinemia type I 'citrullinemia type I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800153 http://www.ebi.ac.uk/efo/EFO_0002613 iatrogenic Kaposi's sarcoma 'iatrogenic Kaposi's sarcoma' EquivalentTo 'Kaposi's sarcoma' and ('has modifier' some 'iatrogenic') 'iatrogenic Kaposi's sarcoma' EquivalentTo 'Kaposi's sarcoma' and ('bearer_of' some 'iatrogenic') http://purl.obolibrary.org/obo/MONDO_0018307 neurodegeneration with brain iron accumulation 'neurodegeneration with brain iron accumulation' SubClassOf 'neurometabolic disease' 'neurodegeneration with brain iron accumulation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018309 Hirschsprung disease 'Hirschsprung disease' SubClassOf 'has modifier' some 'rare' 'Hirschsprung disease' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000645 orthostatic intolerance 'orthostatic intolerance' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008999 Cohen syndrome 'Cohen syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Cohen syndrome' SubClassOf 'syndromic myopia' 'Cohen syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0008996 COACH syndrome 1 'COACH syndrome 1' SubClassOf 'COACH syndrome' 'COACH syndrome 1' SubClassOf 'disorder of development or morphogenesis' 'COACH syndrome 1' SubClassOf 'Joubert syndrome and related disorders' 'COACH syndrome 1' SubClassOf 'genetic parenchymatous liver disease' 'COACH syndrome 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1000654 childhood cancer 'childhood cancer' SubClassOf 'cancer' 'childhood cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0008993 cleft palate-stapes fixation-oligodontia syndrome 'cleft palate-stapes fixation-oligodontia syndrome' SubClassOf 'has modifier' some 'rare' 'cleft palate-stapes fixation-oligodontia syndrome' SubClassOf 'bearer_of' some 'rare' 'cleft palate-stapes fixation-oligodontia syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008992 Juberg-Hayward syndrome 'Juberg-Hayward syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Juberg-Hayward syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Juberg-Hayward syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008991 Verloove Vanhorick-Brubakk syndrome 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Verloove Vanhorick-Brubakk syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018319 familial episodic pain syndrome 'familial episodic pain syndrome' SubClassOf 'neuralgia' http://www.ebi.ac.uk/efo/EFO_0002608 AIDS dementia 'AIDS dementia' SubClassOf 'has modifier' some 'rare' 'AIDS dementia' SubClassOf 'bearer_of' some 'rare' 'AIDS dementia' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0002609 juvenile idiopathic arthritis 'juvenile idiopathic arthritis' SubClassOf 'has modifier' some 'rare' 'juvenile idiopathic arthritis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000663 acquired keratosis 'acquired keratosis' SubClassOf 'has modifier' some 'acquired' 'acquired keratosis' EquivalentTo 'keratosis' and ('has modifier' some 'acquired') 'acquired keratosis' EquivalentTo 'keratosis' and ('bearer_of' some 'acquired') 'acquired keratosis' SubClassOf 'bearer_of' some 'acquired' 'acquired keratosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018328 homozygous familial hypercholesterolemia 'homozygous familial hypercholesterolemia' SubClassOf 'has modifier' some 'rare' 'homozygous familial hypercholesterolemia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000666 acrokeratosis verruciformis 'acrokeratosis verruciformis' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0018327 glomus tumor 'glomus tumor' SubClassOf 'has modifier' some 'rare' 'glomus tumor' SubClassOf 'bearer_of' some 'rare' 'glomus tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 'primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'has modifier' some 'rare' 'primary microcephaly-mild intellectual disability-young-onset diabetes syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002622 rotavirus infection 'rotavirus infection' SubClassOf 'Reoviridae infectious disease' 'rotavirus infection' SubClassOf 'primary viral infectious disease' http://www.ebi.ac.uk/efo/EFO_1000686 dermatosis papulosa nigra 'dermatosis papulosa nigra' SubClassOf 'genetic skin disease' 'dermatosis papulosa nigra' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000681 congenital generalized lipodystrophy 'congenital generalized lipodystrophy' EquivalentTo 'generalized lipodystrophy' and ('has modifier' some 'inherited') 'congenital generalized lipodystrophy' EquivalentTo 'generalized lipodystrophy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018347 severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome 'severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018349 MAN1B1-CDG 'MAN1B1-CDG' SubClassOf 'congenital nervous system disorder' 'MAN1B1-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018343 periodic paralysis with later-onset distal motor neuropathy 'periodic paralysis with later-onset distal motor neuropathy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018341 3q27.3 microdeletion syndrome '3q27.3 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' '3q27.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '3q27.3 microdeletion syndrome' SubClassOf 'partial deletion of the long arm of chromosome 3' '3q27.3 microdeletion syndrome' SubClassOf 'syndrome caused by partial chromosomal deletion' http://www.ebi.ac.uk/efo/EFO_1000691 epidermolysis bullosa acquisita 'epidermolysis bullosa acquisita' EquivalentTo 'epidermolysis bullosa' and ('has modifier' some 'acquired') 'epidermolysis bullosa acquisita' SubClassOf 'has modifier' some 'acquired' 'epidermolysis bullosa acquisita' SubClassOf 'bearer_of' some 'acquired' 'epidermolysis bullosa acquisita' EquivalentTo 'epidermolysis bullosa' and ('bearer_of' some 'acquired') 'epidermolysis bullosa acquisita' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018354 Prader-Willi-like syndrome 'Prader-Willi-like syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Prader-Willi-like syndrome' SubClassOf 'congenital nervous system disorder' 'Prader-Willi-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0018384 avascular necrosis of genetic origin 'avascular necrosis of genetic origin' EquivalentTo 'avascular necrosis' and ('has modifier' some 'inherited') 'avascular necrosis of genetic origin' EquivalentTo 'avascular necrosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018383 osteonecrosis of genetic origin 'osteonecrosis of genetic origin' EquivalentTo 'osteonecrosis' and ('has modifier' some 'inherited') 'osteonecrosis of genetic origin' EquivalentTo 'osteonecrosis' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_1000616 Uveal Melanoma 'Uveal Melanoma' SubClassOf 'has modifier' some 'rare' 'Uveal Melanoma' SubClassOf 'bearer_of' some 'rare' 'Uveal Melanoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008803 Antley-Bixler syndrome 'Antley-Bixler syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Antley-Bixler syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008800 microphthalmia with limb anomalies 'microphthalmia with limb anomalies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'microphthalmia with limb anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008815 argininosuccinic aciduria 'argininosuccinic aciduria' SubClassOf 'urea cycle disorder' 'argininosuccinic aciduria' SubClassOf 'amino acid metabolism disease' 'argininosuccinic aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800153 http://purl.obolibrary.org/obo/MONDO_0008814 hyperargininemia 'hyperargininemia' SubClassOf 'urea cycle disorder' 'hyperargininemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800153 http://purl.obolibrary.org/obo/MONDO_0008813 arachnoid cyst 'arachnoid cyst' SubClassOf 'disease has feature' some 'pituitary hormone deficiency from meningeal origin' http://purl.obolibrary.org/obo/MONDO_0008812 AREDYLD syndrome 'AREDYLD syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'AREDYLD syndrome' SubClassOf 'syndromic urogenital tract malformation' 'AREDYLD syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0008824 fetal akinesia deformation sequence 'fetal akinesia deformation sequence' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'fetal akinesia deformation sequence' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008838 ataxia - deafness - intellectual disability syndrome 'ataxia - deafness - intellectual disability syndrome' SubClassOf 'X-linked deafness' 'ataxia - deafness - intellectual disability syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0008832 right atrial isomerism 'right atrial isomerism' SubClassOf 'syndromic renal or urinary tract malformation' 'right atrial isomerism' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0008830 aspartylglucosaminuria 'aspartylglucosaminuria' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0008847 atrichia with papular lesions 'atrichia with papular lesions' SubClassOf 'genetic alopecia' 'atrichia with papular lesions' SubClassOf 'alopecia' http://purl.obolibrary.org/obo/MONDO_0008843 atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf 'syndromic urogenital tract malformation' 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0008842 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 'ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0008840 ataxia telangiectasia 'ataxia telangiectasia' SubClassOf 'genetic nervous system disorder' 'ataxia telangiectasia' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0008858 Behr syndrome 'Behr syndrome' SubClassOf 'genetic disorder' 'Behr syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Behr syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800181 'Behr syndrome' SubClassOf 'autosomal recessive disease' 'Behr syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0008857 Beemer-Ertbruggen syndrome 'Beemer-Ertbruggen syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Beemer-Ertbruggen syndrome' SubClassOf 'bearer_of' some 'rare' 'Beemer-Ertbruggen syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008856 immunodeficiency 27A 'immunodeficiency 27A' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0008853 Barber-Say syndrome 'Barber-Say syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Barber-Say syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008850 Cooper-Jabs syndrome 'Cooper-Jabs syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cooper-Jabs syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cooper-Jabs syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000757 porokeratosis 'porokeratosis' SubClassOf 'genetic skin disease' 'porokeratosis' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000765 seborrheic infantile dermatitis 'seborrheic infantile dermatitis' SubClassOf 'scalp disorder' 'seborrheic infantile dermatitis' SubClassOf 'head disorder' http://purl.obolibrary.org/obo/MONDO_0008879 Bowen-Conradi syndrome 'Bowen-Conradi syndrome' SubClassOf 'genetic nervous system disorder' 'Bowen-Conradi syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0008877 blue diaper syndrome 'blue diaper syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' 'blue diaper syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0008875 blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008872 microcephalic osteodysplastic primordial dwarfism type II 'microcephalic osteodysplastic primordial dwarfism type II' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0008885 Elsahy-Waters syndrome 'Elsahy-Waters syndrome' SubClassOf 'genetic nervous system disorder' 'Elsahy-Waters syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Elsahy-Waters syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018205 distal monosomy 1q 'distal monosomy 1q' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018204 20q11.2 microduplication syndrome '20q11.2 microduplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018207 2p13.2 microdeletion syndrome '2p13.2 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018201 extragonadal germ cell tumor 'extragonadal germ cell tumor' SubClassOf 'has modifier' some 'rare' 'extragonadal germ cell tumor' SubClassOf 'bearer_of' some 'rare' 'extragonadal germ cell tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018202 gonadal germ cell tumor 'gonadal germ cell tumor' SubClassOf 'has modifier' some 'rare' 'gonadal germ cell tumor' SubClassOf 'material entity' 'gonadal germ cell tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008899 camptodactyly syndrome, Guadalajara type 2 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'camptodactyly syndrome, Guadalajara type 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008898 camptodactyly syndrome, Guadalajara type 1 'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'bearer_of' some 'rare' 'camptodactyly syndrome, Guadalajara type 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008896 campomelia, Cumming type 'campomelia, Cumming type' SubClassOf 'neurovascular disorder' 'campomelia, Cumming type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'campomelia, Cumming type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008895 hereditary arterial and articular multiple calcification syndrome 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'has modifier' some 'rare' 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'genetic disorder' 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'bearer_of' some 'rare' 'hereditary arterial and articular multiple calcification syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008894 cataract-hypertrichosis-intellectual disability syndrome 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'cataract-hypertrichosis-intellectual disability syndrome' SubClassOf 'syndromic cataract' http://www.ebi.ac.uk/efo/EFO_1000795 acute retinal necrosis syndrome 'acute retinal necrosis syndrome' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0008893 C syndrome 'C syndrome' SubClassOf 'genetic nervous system disorder' 'C syndrome' SubClassOf 'syndromic intellectual disability' 'C syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'C syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018215 paraneoplastic neurologic syndrome 'paraneoplastic neurologic syndrome' SubClassOf 'has modifier' some 'rare' 'paraneoplastic neurologic syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018212 familial cervical artery dissection 'familial cervical artery dissection' SubClassOf 'cervical artery dissection' 'familial cervical artery dissection' SubClassOf 'genetic central nervous system and retinal vascular disease' 'familial cervical artery dissection' EquivalentTo 'cervical artery dissection' and ('has modifier' some 'inherited') 'familial cervical artery dissection' SubClassOf 'cervical artery dissection' 'familial cervical artery dissection' SubClassOf 'bearer_of' some 'rare' 'familial cervical artery dissection' SubClassOf 'genetic disorder' 'familial cervical artery dissection' EquivalentTo 'cervical artery dissection' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018214 generalized epilepsy with febrile seizures plus 'generalized epilepsy with febrile seizures plus' SubClassOf 'genetic nervous system disorder' 'generalized epilepsy with febrile seizures plus' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0033864 infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 'infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018222 X-linked intellectual disability due to GRIA3 anomalies 'X-linked intellectual disability due to GRIA3 anomalies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018234 dysostosis 'dysostosis' SubClassOf 'has modifier' some 'rare' 'dysostosis' SubClassOf 'material entity' 'dysostosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018230 skeletal dysplasia 'skeletal dysplasia' SubClassOf 'has modifier' some 'rare' 'skeletal dysplasia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002430 primary myelofibrosis 'primary myelofibrosis' SubClassOf 'has modifier' some 'acquired' 'primary myelofibrosis' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0018248 intellectual disability-seizures-macrocephaly-obesity syndrome 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'intellectual disability-seizures-macrocephaly-obesity syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018247 CADDS 'CADDS' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018243 intellectual disability-hyperkinetic movement-truncal ataxia syndrome 'intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'has modifier' some 'rare' 'intellectual disability-hyperkinetic movement-truncal ataxia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018242 autoimmune hypoparathyroidism 'autoimmune hypoparathyroidism' SubClassOf 'has modifier' some 'rare' 'autoimmune hypoparathyroidism' SubClassOf 'bearer_of' some 'rare' 'autoimmune hypoparathyroidism' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0002422 benign neoplasm 'cancer' DisjointWith 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0004992 DisjointWith 'benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0018257 familial syringomyelia 'familial syringomyelia' SubClassOf 'genetic nervous system disorder' 'familial syringomyelia' EquivalentTo 'syringomyelia' and ('has modifier' some 'inherited') 'familial syringomyelia' SubClassOf 'genetic disorder' 'familial syringomyelia' EquivalentTo 'syringomyelia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018254 spondyloepimetaphyseal dysplasia, Isidor type 'spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Isidor type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0018280 muscle-eye-brain disease with bilateral multicystic leucodystrophy 'muscle-eye-brain disease with bilateral multicystic leucodystrophy' SubClassOf 'primary qualitative or quantitative defects of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0018278 congenital muscular dystrophy with intellectual disability 'congenital muscular dystrophy with intellectual disability' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018277 congenital muscular dystrophy with cerebellar involvement 'congenital muscular dystrophy with cerebellar involvement' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018279 congenital muscular dystrophy without intellectual disability 'congenital muscular dystrophy without intellectual disability' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018274 GM3 synthase deficiency 'GM3 synthase deficiency' SubClassOf 'congenital nervous system disorder' 'GM3 synthase deficiency' SubClassOf 'genetic skin disease' 'GM3 synthase deficiency' SubClassOf 'neurometabolic disease' 'GM3 synthase deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018273 XYLT1-CDG 'XYLT1-CDG' SubClassOf 'congenital nervous system disorder' 'XYLT1-CDG' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'XYLT1-CDG' SubClassOf 'neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_1000708 hereditary papulotranslucent acrokeratoderma 'hereditary papulotranslucent acrokeratoderma' SubClassOf 'genetic skin disease' 'hereditary papulotranslucent acrokeratoderma' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000712 hypohidrosis 'hypohidrosis' SubClassOf 'sweat gland disease' 'hypohidrosis' SubClassOf 'sweat gland disease' http://www.ebi.ac.uk/efo/EFO_1000711 hyperpigmentation of eyelid 'hyperpigmentation of eyelid' SubClassOf 'genetic skin disease' 'hyperpigmentation of eyelid' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0002499 anaplastic astrocytoma 'anaplastic astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'anaplastic astrocytoma' SubClassOf 'astrocytoma' http://www.ebi.ac.uk/efo/EFO_1000721 kernicterus due to isoimmunization 'kernicterus due to isoimmunization' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_1000737 multiple symmetric lipomatosis 'multiple symmetric lipomatosis' SubClassOf 'has modifier' some 'rare' 'multiple symmetric lipomatosis' SubClassOf 'material entity' 'multiple symmetric lipomatosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1000478 Pituitary Gland Adenoma 'Pituitary Gland Adenoma' SubClassOf 'disease has feature' some 'pituitary hormone deficiency from tumoral origin' http://www.ebi.ac.uk/efo/EFO_1000496 Prolactin-Producing Pituitary Gland Adenoma 'Prolactin-Producing Pituitary Gland Adenoma' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0008707 acro-renal-mandibular syndrome 'acro-renal-mandibular syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acro-renal-mandibular syndrome' SubClassOf 'bearer_of' some 'rare' 'acro-renal-mandibular syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008706 Ackerman syndrome 'Ackerman syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ackerman syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008708 acrocallosal syndrome 'acrocallosal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'acrocallosal syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008716 acrogeria 'acrogeria' SubClassOf 'genetic skin disease' 'acrogeria' SubClassOf 'genetic disorder' 'acrogeria' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0008714 acrofacial dysostosis Rodriguez type 'acrofacial dysostosis Rodriguez type' SubClassOf 'genetic nervous system disorder' 'acrofacial dysostosis Rodriguez type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0008713 acrodermatitis enteropathica 'acrodermatitis enteropathica' SubClassOf 'genetic skin disease' 'acrodermatitis enteropathica' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0008712 acrocraniofacial dysostosis 'acrocraniofacial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acrocraniofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008711 Goodman syndrome 'Goodman syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Goodman syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008729 congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008728 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'genetic infertility' 'classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008727 congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008725 congenital lipoid adrenal hyperplasia due to STAR deficency 'congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0008734 adrenocortical carcinoma, hereditary 'adrenocortical carcinoma, hereditary' EquivalentTo 'adrenal cortex carcinoma' and ('has modifier' some 'inherited') 'adrenocortical carcinoma, hereditary' EquivalentTo 'adrenal cortex carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0008733 familial glucocorticoid deficiency 'familial glucocorticoid deficiency' SubClassOf 'has modifier' some 'rare' 'familial glucocorticoid deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008731 familial adrenal hypoplasia with absent pituitary luteinizing hormone 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'has modifier' some 'congenital' 'familial adrenal hypoplasia with absent pituitary luteinizing hormone' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0008744 alar cartilages hypoplasia-coloboma-telecanthus syndrome 'alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf 'bearer_of' some 'rare' 'alar cartilages hypoplasia-coloboma-telecanthus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008741 PAGOD syndrome 'PAGOD syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PAGOD syndrome' SubClassOf 'bearer_of' some 'rare' 'PAGOD syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008740 agnathia-otocephaly complex 'agnathia-otocephaly complex' SubClassOf 'genetic nervous system disorder' 'agnathia-otocephaly complex' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0008759 oxoglutaricaciduria 'oxoglutaricaciduria' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0008758 mitochondrial DNA depletion syndrome 4a 'mitochondrial DNA depletion syndrome 4a' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0008756 alopecia - intellectual disability syndrome 'alopecia - intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'alopecia - intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008754 alopecia - contractures - dwarfism - intellectual disability syndrome 'alopecia - contractures - dwarfism - intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008753 alkaptonuria 'alkaptonuria' SubClassOf 'genetic skin disease' 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' 'alkaptonuria' SubClassOf 'disorder of tyrosine metabolism' 'alkaptonuria' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0008750 microcephaly-albinism-digital anomalies syndrome 'microcephaly-albinism-digital anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'microcephaly-albinism-digital anomalies syndrome' SubClassOf 'bearer_of' some 'rare' 'microcephaly-albinism-digital anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0008763 Alstrom syndrome 'Alstrom syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0008777 gelatinous drop-like corneal dystrophy 'gelatinous drop-like corneal dystrophy' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1000439 Pancreatic Acinar Cell Carcinoma 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'has modifier' some 'rare' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'material entity' 'Pancreatic Acinar Cell Carcinoma' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0002893 choriocarcinoma 'choriocarcinoma' SubClassOf 'has modifier' some 'rare' 'choriocarcinoma' SubClassOf 'bearer_of' some 'rare' 'choriocarcinoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008783 Tangier disease 'Tangier disease' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018109 fulminant viral hepatitis 'fulminant viral hepatitis' SubClassOf 'has modifier' some 'rare' 'fulminant viral hepatitis' SubClassOf 'material entity' 'fulminant viral hepatitis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018106 hereditary xanthinuria 'hereditary xanthinuria' EquivalentTo 'xanthinuria' and ('has modifier' some 'inherited') 'hereditary xanthinuria' EquivalentTo 'xanthinuria' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018105 Wolfram syndrome 'Wolfram syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Wolfram syndrome' SubClassOf 'syndromic genetic hearing loss' 'Wolfram syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018102 corneal dystrophy 'corneal dystrophy' SubClassOf 'has modifier' some 'rare' 'corneal dystrophy' SubClassOf 'material entity' 'corneal dystrophy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008799 anophthalmia/microphthalmia-esophageal atresia syndrome 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'anophthalmia/microphthalmia-esophageal atresia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.ebi.ac.uk/efo/EFO_1000456 Parathyroid Gland Carcinoma 'Parathyroid Gland Carcinoma' SubClassOf 'has modifier' some 'rare' 'Parathyroid Gland Carcinoma' SubClassOf 'genetic disorder' 'Parathyroid Gland Carcinoma' SubClassOf 'bearer_of' some 'rare' 'Parathyroid Gland Carcinoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0008796 aniridia-renal agenesis-psychomotor retardation syndrome 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic urogenital tract malformation' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'genetic nervous system disorder' 'aniridia-renal agenesis-psychomotor retardation syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://www.ebi.ac.uk/efo/EFO_1000453 Paraganglioma 'Paraganglioma' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008795 aniridia-cerebellar ataxia-intellectual disability syndrome 'aniridia-cerebellar ataxia-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008792 familial angiolipomatosis 'familial angiolipomatosis' SubClassOf 'has modifier' some 'rare' 'familial angiolipomatosis' SubClassOf 'bearer_of' some 'rare' 'familial angiolipomatosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0000225 acute quadriplegic myopathy 'acute quadriplegic myopathy' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0008791 anencephaly 1 'anencephaly 1' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018116 galactosemia 'galactosemia' SubClassOf 'syndromic cataract' 'galactosemia' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0018115 epidermal nevus syndrome 'epidermal nevus syndrome' SubClassOf 'has modifier' some 'rare' 'epidermal nevus syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 'intellectual disability-obesity-brain malformations-facial dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018122 digital anomalies-intellectual disability-short stature syndrome 'digital anomalies-intellectual disability-short stature syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'digital anomalies-intellectual disability-short stature syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018135 oculocutaneous albinism type 1 'oculocutaneous albinism type 1' SubClassOf 'disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0018151 coenzyme Q10 deficiency 'coenzyme Q10 deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018150 Gaucher disease 'Gaucher disease' SubClassOf 'has modifier' some 'rare' 'Gaucher disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018149 GM1 gangliosidosis 'GM1 gangliosidosis' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018144 congenital myasthenic syndromes with glycosylation defect 'congenital myasthenic syndromes with glycosylation defect' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018160 hereditary retinoblastoma 'hereditary retinoblastoma' SubClassOf 'genetic nervous system disorder' 'hereditary retinoblastoma' EquivalentTo 'retinoblastoma' and ('has modifier' some 'inherited') 'hereditary retinoblastoma' EquivalentTo 'retinoblastoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018162 neurometabolic disorder due to serine deficiency 'neurometabolic disorder due to serine deficiency' SubClassOf 'neurometabolic disease' 'neurometabolic disorder due to serine deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0018170 idiopathic nephrotic syndrome 'idiopathic nephrotic syndrome' EquivalentTo 'nephrotic syndrome' and ('has modifier' some 'idiopathic') 'idiopathic nephrotic syndrome' SubClassOf 'primary glomerular disease' 'idiopathic nephrotic syndrome' EquivalentTo 'nephrotic syndrome' and ('bearer_of' some 'idiopathic') http://www.ebi.ac.uk/efo/EFO_0000174 Ewing sarcoma 'Ewing sarcoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018168 primary non-essential cutis verticis gyrata 'primary non-essential cutis verticis gyrata' SubClassOf 'has modifier' some 'rare' 'primary non-essential cutis verticis gyrata' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018178 intestinal lymphangiectasia 'intestinal lymphangiectasia' SubClassOf 'has modifier' some 'rare' 'intestinal lymphangiectasia' SubClassOf 'material entity' 'intestinal lymphangiectasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018174 hereditary glaucoma 'hereditary glaucoma' EquivalentTo 'glaucoma' and ('has modifier' some 'inherited') 'hereditary glaucoma' SubClassOf 'glaucoma' 'hereditary glaucoma' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0005041 and ('bearer_of' some 'inherited') 'hereditary glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005041 http://purl.obolibrary.org/obo/MONDO_0018191 tumor of testis and paratestis 'tumor of testis and paratestis' SubClassOf 'has modifier' some 'rare' 'tumor of testis and paratestis' SubClassOf 'bearer_of' some 'rare' 'tumor of testis and paratestis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018188 genetic intestinal polyposis 'genetic intestinal polyposis' SubClassOf 'has modifier' some 'rare' 'genetic intestinal polyposis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0000181 head and neck squamous cell carcinoma 'head and neck squamous cell carcinoma' SubClassOf 'has modifier' some 'rare' 'head and neck squamous cell carcinoma' SubClassOf 'bearer_of' some 'rare' 'head and neck squamous cell carcinoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form 'mitochondrial DNA depletion syndrome, hepatocerebrorenal form' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0008610 blue color blindness 'blue color blindness' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008636 double uterus-hemivagina-renal agenesis syndrome 'double uterus-hemivagina-renal agenesis syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://www.ebi.ac.uk/efo/EFO_1000533 Small Intestinal Burkitt Lymphoma 'Small Intestinal Burkitt Lymphoma' SubClassOf 'inherited digestive tract tumor' http://www.ebi.ac.uk/efo/EFO_1000537 Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma 'Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma' SubClassOf 'inherited digestive tract tumor' http://purl.obolibrary.org/obo/MONDO_0008648 ventricular tachycardia, familial 'ventricular tachycardia, familial' EquivalentTo 'ventricular tachycardia' and ('has modifier' some 'inherited') 'ventricular tachycardia, familial' EquivalentTo 'ventricular tachycardia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0008645 ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome 'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1000543 Spinal Chordoma 'Spinal Chordoma' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1000544 Spinal Cord Astrocytoma 'Spinal Cord Astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'Spinal Cord Astrocytoma' SubClassOf 'astrocytoma' http://purl.obolibrary.org/obo/MONDO_0008642 VACTERL/vater association 'VACTERL/vater association' SubClassOf 'syndromic urogenital tract malformation' 'VACTERL/vater association' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 'retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations' SubClassOf 'cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0008652 congenital vertical talus 'congenital vertical talus' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0008650 posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021640 grade III glioma 'grade III glioma' SubClassOf 'has modifier' some 'tumor grade 3, general grading system' 'grade III glioma' EquivalentTo 'glioma' and ('has modifier' some 'tumor grade 3, general grading system') 'grade III glioma' SubClassOf 'bearer_of' some 'tumor grade 3, general grading system' 'grade III glioma' EquivalentTo 'glioma' and ('bearer_of' some 'tumor grade 3, general grading system') http://purl.obolibrary.org/obo/MONDO_0008667 von Hippel-Lindau disease 'von Hippel-Lindau disease' SubClassOf 'has modifier' some 'rare' 'von Hippel-Lindau disease' SubClassOf 'material entity' 'von Hippel-Lindau disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021631 brain astrocytoma 'brain astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'brain astrocytoma' SubClassOf 'astrocytoma' http://purl.obolibrary.org/obo/MONDO_0033613 neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities 'neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0008678 Williams syndrome 'Williams syndrome' SubClassOf 'neurodevelopmental disorder' 'Williams syndrome' SubClassOf 'genetic nervous system disorder' 'Williams syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Williams syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0008673 acrofacial dysostosis, Weyers type 'acrofacial dysostosis, Weyers type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acrofacial dysostosis, Weyers type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0021637 low grade glioma 'low grade glioma' SubClassOf 'has modifier' some 'tumor grade 1 or 2, general grading system' 'low grade glioma' EquivalentTo 'glioma' and ('has modifier' some 'tumor grade 1 or 2, general grading system') 'low grade glioma' EquivalentTo 'glioma' and ('bearer_of' some 'tumor grade 1 or 2, general grading system') 'low grade glioma' SubClassOf 'bearer_of' some 'tumor grade 1 or 2, general grading system' 'low grade glioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0021638 low grade astrocytic tumor 'low grade astrocytic tumor' SubClassOf 'astrocytoma' 'low grade astrocytic tumor' EquivalentTo 'astrocytoma' and ('has modifier' some 'tumor grade 1 or 2, general grading system') 'low grade astrocytic tumor' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0021636 and ('bearer_of' some 'tumor grade 1 or 2, general grading system') 'low grade astrocytic tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021636 http://purl.obolibrary.org/obo/MONDO_0021639 grade II glioma 'grade II glioma' SubClassOf 'has modifier' some 'tumor grade 2, general grading system' 'grade II glioma' EquivalentTo 'glioma' and ('has modifier' some 'tumor grade 2, general grading system') 'grade II glioma' EquivalentTo 'glioma' and ('bearer_of' some 'tumor grade 2, general grading system') 'grade II glioma' SubClassOf 'bearer_of' some 'tumor grade 2, general grading system' http://purl.obolibrary.org/obo/MONDO_0008689 dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 'dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0008684 Wolf-Hirschhorn syndrome 'Wolf-Hirschhorn syndrome' SubClassOf 'disease has feature' some 'syndromic genetic hearing loss' 'Wolf-Hirschhorn syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Wolf-Hirschhorn syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008682 Denys-Drash syndrome 'Denys-Drash syndrome' SubClassOf 'primary glomerular disease' 'Denys-Drash syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0008681 WAGR syndrome 'WAGR syndrome' SubClassOf 'syndromic urogenital tract malformation' 'WAGR syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0018007 mosaic genome-wide paternal uniparental disomy 'mosaic genome-wide paternal uniparental disomy' SubClassOf 'has modifier' some 'mosaic' 'mosaic genome-wide paternal uniparental disomy' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'syndromic genetic hearing loss' 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0006037 hydrolethalus syndrome 'hydrolethalus syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0008695 chorea-acanthocytosis 'chorea-acanthocytosis' SubClassOf 'genetic skin disease' 'chorea-acanthocytosis' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0008693 ablepharon macrostomia syndrome 'ablepharon macrostomia syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'ablepharon macrostomia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'ablepharon macrostomia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0008692 abetalipoproteinemia 'abetalipoproteinemia' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018015 intermittent hydrarthrosis 'intermittent hydrarthrosis' SubClassOf 'has modifier' some 'rare' 'intermittent hydrarthrosis' SubClassOf 'material entity' 'intermittent hydrarthrosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0021681 sexually transmitted disease 'sexually transmitted disease' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0002690 systemic lupus erythematosus 'systemic lupus erythematosus' SubClassOf 'has_disease_location' some 'skeletal joint' 'systemic lupus erythematosus' SubClassOf 'lupus erythematosus' 'systemic lupus erythematosus' SubClassOf 'thrombotic microangiopathy' 'systemic lupus erythematosus' SubClassOf 'autoimmune disease' 'systemic lupus erythematosus' SubClassOf 'secondary glomerular disease' 'systemic lupus erythematosus' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0018027 duplication/inversion 15q11 'duplication/inversion 15q11' SubClassOf 'has modifier' some 'rare' 'duplication/inversion 15q11' SubClassOf 'bearer_of' some 'rare' 'duplication/inversion 15q11' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018021 hypotrichosis-deafness syndrome 'hypotrichosis-deafness syndrome' SubClassOf 'erythrokeratoderma variabilis progressiva' 'hypotrichosis-deafness syndrome' SubClassOf 'syndromic nail anomaly' 'hypotrichosis-deafness syndrome' SubClassOf 'genetic alopecia' 'hypotrichosis-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'hypotrichosis-deafness syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018043 Thomas syndrome 'Thomas syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Thomas syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Thomas syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Thomas syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0033683 congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 'congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0018045 Hoyeraal-Hreidarsson syndrome 'Hoyeraal-Hreidarsson syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018044 idiopathic hypersomnia 'idiopathic hypersomnia' SubClassOf 'has modifier' some 'rare' 'idiopathic hypersomnia' EquivalentTo 'hypersomnia' and ('has modifier' some 'idiopathic') 'idiopathic hypersomnia' EquivalentTo 'hypersomnia' and ('bearer_of' some 'idiopathic') 'idiopathic hypersomnia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018054 familial atrial fibrillation 'familial atrial fibrillation' EquivalentTo 'atrial fibrillation' and ('has modifier' some 'inherited') 'familial atrial fibrillation' EquivalentTo 'atrial fibrillation' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018053 trichothiodystrophy 'trichothiodystrophy' SubClassOf 'genetic infertility' 'trichothiodystrophy' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0018071 trisomy 18 'trisomy 18' SubClassOf 'syndromic urogenital tract malformation' 'trisomy 18' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0018068 trisomy 13 'trisomy 13' SubClassOf 'syndromic renal or urinary tract malformation' 'trisomy 13' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0018065 isolated trigonocephaly 'isolated trigonocephaly' EquivalentTo 'trigonocephaly' and ('has modifier' some 'has an isolated presentation') 'isolated trigonocephaly' EquivalentTo 'trigonocephaly' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0043003 familial acanthosis nigricans 'familial acanthosis nigricans' EquivalentTo 'acanthosis nigricans' and ('has modifier' some 'inherited') 'familial acanthosis nigricans' SubClassOf 'genetic skin disease' 'familial acanthosis nigricans' EquivalentTo 'acanthosis nigricans' and ('bearer_of' some 'inherited') 'familial acanthosis nigricans' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0043005 genetic multiple congenital anomalies/dysmorphic syndrome 'genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'genetic disorder' 'genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome' 'genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'has modifier' some 'rare' 'genetic multiple congenital anomalies/dysmorphic syndrome' EquivalentTo 'multiple congenital anomalies/dysmorphic syndrome' and ('has modifier' some 'inherited') 'genetic multiple congenital anomalies/dysmorphic syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' EquivalentTo 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' and ('has modifier' some 'inherited') 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0043009 genetic lethal multiple congenital anomalies/dysmorphic syndrome 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' EquivalentTo 'lethal multiple congenital anomalies/dysmorphic syndrome' and ('has modifier' some 'inherited') 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'genetic lethal multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' EquivalentTo 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' and ('has modifier' some 'inherited') 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0031037 famililal cerebral cavernous malformations 'famililal cerebral cavernous malformations' EquivalentTo 'cerebral cavernous malformation' and ('has modifier' some 'inherited') 'famililal cerebral cavernous malformations' SubClassOf 'genetic central nervous system and retinal vascular disease' 'famililal cerebral cavernous malformations' EquivalentTo 'cerebral cavernous malformation' and ('bearer_of' some 'inherited') 'famililal cerebral cavernous malformations' SubClassOf 'neurovascular disorder' http://purl.obolibrary.org/obo/MONDO_0018076 tuberculosis 'tuberculosis' SubClassOf 'has modifier' some 'rare' 'tuberculosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018094 Waardenburg syndrome 'Waardenburg syndrome' SubClassOf 'congenital nervous system disorder' 'Waardenburg syndrome' SubClassOf 'genetic skin disease' 'Waardenburg syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Waardenburg syndrome' SubClassOf 'syndromic genetic hearing loss' 'Waardenburg syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Waardenburg syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018096 Weill-Marchesani syndrome 'Weill-Marchesani syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Weill-Marchesani syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephaly-brachydactyly-kyphoscoliosis syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018087 viral hemorrhagic fever 'viral hemorrhagic fever' SubClassOf 'has modifier' some 'rare' 'viral hemorrhagic fever' SubClassOf 'material entity' 'viral hemorrhagic fever' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005269 congenital heart malformation 'congenital heart malformation' SubClassOf 'has modifier' some 'rare' 'congenital heart malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016987 neuroacanthocytosis 'neuroacanthocytosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016980 ATR-X-related syndrome 'ATR-X-related syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'ATR-X-related syndrome' SubClassOf 'congenital nervous system disorder' 'ATR-X-related syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'ATR-X-related syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'ATR-X-related syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 'infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome' SubClassOf 'genetic nervous system disorder' 'infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014320 Bosch-Boonstra-Schaaf optic atrophy syndrome 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'genetic nervous system disorder' 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Bosch-Boonstra-Schaaf optic atrophy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0002350 familial nephrotic syndrome 'familial nephrotic syndrome' EquivalentTo 'nephrotic syndrome' and ('has modifier' some 'inherited') 'familial nephrotic syndrome' EquivalentTo 'nephrotic syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0014335 diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome 'diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome' SubClassOf 'inherited neurodegenerative disorder' 'diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome' SubClassOf 'neurodegenerative disease' http://purl.obolibrary.org/obo/MONDO_0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 'hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf 'urea cycle disorder' 'hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800153 http://purl.obolibrary.org/obo/MONDO_0016996 NK-cell enteropathy 'NK-cell enteropathy' SubClassOf 'has modifier' some 'rare' 'NK-cell enteropathy' SubClassOf 'bearer_of' some 'rare' 'NK-cell enteropathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 'intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0016990 acquired prothrombin deficiency 'acquired prothrombin deficiency' EquivalentTo 'prothrombin deficiency' and ('has modifier' some 'acquired') 'acquired prothrombin deficiency' SubClassOf 'has modifier' some 'acquired' 'acquired prothrombin deficiency' SubClassOf 'bearer_of' some 'acquired' 'acquired prothrombin deficiency' EquivalentTo 'prothrombin deficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0014361 autism spectrum disorder due to AUTS2 deficiency 'autism spectrum disorder due to AUTS2 deficiency' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014379 ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder 'ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014389 polyglucosan body myopathy 1 with or without immunodeficiency 'polyglucosan body myopathy 1 with or without immunodeficiency' SubClassOf 'glycogen storage disease' 'polyglucosan body myopathy 1 with or without immunodeficiency' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0014382 tall stature-intellectual disability-facial dysmorphism syndrome 'tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'tall stature-intellectual disability-facial dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014397 combined oxidative phosphorylation defect type 20 'combined oxidative phosphorylation defect type 20' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0002402 malignant giant cell tumor 'malignant giant cell tumor' SubClassOf 'cancer' 'malignant giant cell tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0002404 liver hemangioma 'liver hemangioma' SubClassOf 'liver neoplasm' 'liver hemangioma' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://www.ebi.ac.uk/efo/EFO_0005206 oligoclonal band measurement 'oligoclonal band measurement' SubClassOf ('is_about' some 'multiple sclerosis') or ('is_about' some 'lymphoma') or ('is_about' some 'Sjogren syndrome') or ('is_about' some 'subarachnoid hemorrhage') or ('is_about' some 'multiple myeloma') or ('is_about' some 'systemic lupus erythematosus') 'oligoclonal band measurement' SubClassOf ('is_about' some 'multiple sclerosis') or ('is_about' some http://purl.obolibrary.org/obo/MONDO_0007915) or ('is_about' some 'lymphoma') or ('is_about' some 'Sjogren syndrome') or ('is_about' some 'subarachnoid hemorrhage') or ('is_about' some 'multiple myeloma') http://purl.obolibrary.org/obo/MONDO_0002412 glycogen storage disease 'glycogen storage disease' SubClassOf 'inborn carbohydrate metabolic disorder' 'glycogen storage disease' SubClassOf 'inborn carbohydrate metabolic disorder' http://www.ebi.ac.uk/efo/EFO_0005223 acute stress reaction 'acute stress reaction' SubClassOf 'acute disease' http://www.ebi.ac.uk/efo/EFO_0005224 Q fever 'Q fever' SubClassOf 'has modifier' some 'rare' 'Q fever' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005225 human african trypanosomiasis 'human african trypanosomiasis' SubClassOf 'has modifier' some 'rare' 'human african trypanosomiasis' SubClassOf 'bearer_of' some 'rare' 'human african trypanosomiasis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014405 STING-associated vasculopathy with onset in infancy 'STING-associated vasculopathy with onset in infancy' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0002436 nasal disorder 'nasal disorder' SubClassOf 'face disorder' 'nasal disorder' SubClassOf 'head disorder' http://purl.obolibrary.org/obo/MONDO_0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 'ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014413 orofaciodigital syndrome type 14 'orofaciodigital syndrome type 14' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'orofaciodigital syndrome type 14' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002438 acquired polycythemia 'acquired polycythemia' SubClassOf 'has modifier' some 'acquired' 'acquired polycythemia' EquivalentTo 'polycythemia' and ('has modifier' some 'acquired') 'acquired polycythemia' SubClassOf 'bearer_of' some 'acquired' 'acquired polycythemia' EquivalentTo 'polycythemia' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0002441 Jervell and Lange-Nielsen syndrome 'Jervell and Lange-Nielsen syndrome' SubClassOf 'syndromic genetic hearing loss' http://www.orpha.net/ORDO/Orphanet_99013 Autosomal recessive spastic paraplegia type 7 'Autosomal recessive spastic paraplegia type 7' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0014421 glucocorticoid resistance 'glucocorticoid resistance' SubClassOf 'inherited lipid metabolism disorder' http://purl.obolibrary.org/obo/MONDO_0014420 short stature due to primary acid-labile subunit deficiency 'short stature due to primary acid-labile subunit deficiency' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_99014 X-linked Charcot-Marie-Tooth disease type 5 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'syndromic hereditary optic neuropathy' 'X-linked Charcot-Marie-Tooth disease type 5' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0002457 Treacher-Collins syndrome 'Treacher-Collins syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Treacher-Collins syndrome' SubClassOf 'syndromic genetic hearing loss' 'Treacher-Collins syndrome' SubClassOf 'congenital nervous system disorder' 'Treacher-Collins syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0002454 thyroid adenoma 'thyroid adenoma' SubClassOf 'thyroid neoplasm' 'thyroid adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/HP_0000824 Decreased response to growth hormone stimulation test 'Decreased response to growth hormone stimulation test' SubClassOf 'Abnormal circulating hormone concentration' 'Decreased response to growth hormone stimulation test' SubClassOf 'Abnormality of the endocrine system' http://purl.obolibrary.org/obo/MONDO_0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'eye degenerative disorder' 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'facial paralysis' 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'complex hereditary spastic paraplegia' 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome' SubClassOf 'hereditary spastic paraplegia' http://purl.obolibrary.org/obo/MONDO_0014208 Charcot-Marie-Tooth disease type 2R 'Charcot-Marie-Tooth disease type 2R' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0014201 developmental and epileptic encephalopathy, 18 'developmental and epileptic encephalopathy, 18' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 'severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf 'hereditary pulmonary alveolar proteinosis' 'severe early-onset pulmonary alveolar proteinosis due to MARS deficiency' SubClassOf 'pulmonary alveolar proteinosis' http://purl.obolibrary.org/obo/MONDO_0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'genetic nervous system disorder' 'severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome 'intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome 'severe dermatitis-multiple allergies-metabolic wasting syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0014210 intellectual disability-hypotonia-spasticity-sleep disorder syndrome 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-hypotonia-spasticity-sleep disorder syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014225 hemochromatosis type 5 'hemochromatosis type 5' SubClassOf 'has modifier' some 'rare' 'hemochromatosis type 5' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014224 developmental delay with autism spectrum disorder and gait instability 'developmental delay with autism spectrum disorder and gait instability' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014221 triosephosphate isomerase deficiency 'triosephosphate isomerase deficiency' SubClassOf 'neurometabolic disease' 'triosephosphate isomerase deficiency' SubClassOf 'disorder of glycolysis' 'triosephosphate isomerase deficiency' SubClassOf 'cerebral organic aciduria' 'triosephosphate isomerase deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0002254 syndromic disease 'syndromic disease' SubClassOf 'disease' 'syndromic disease' EquivalentTo 'disease' and ('has modifier' some 'has a syndromic presentation') 'syndromic disease' SubClassOf 'has modifier' some 'has a syndromic presentation' 'syndromic disease' SubClassOf 'disease' 'syndromic disease' SubClassOf 'material entity' 'syndromic disease' SubClassOf 'bearer_of' some 'has a syndromic presentation' http://purl.obolibrary.org/obo/MONDO_0016899 Duchenne and Becker muscular dystrophy 'Duchenne and Becker muscular dystrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/HP_0000758 Abnormal nonverbal communicative behavior 'Abnormal nonverbal communicative behavior' SubClassOf 'Impaired social interactions' 'Abnormal nonverbal communicative behavior' SubClassOf 'Behavioral abnormality' http://purl.obolibrary.org/obo/MONDO_0014248 autism spectrum disorder - epilepsy - arthrogryposis syndrome 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'congenital nervous system disorder' 'autism spectrum disorder - epilepsy - arthrogryposis syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014258 congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'congenital nervous system disorder' 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'neurometabolic disease' 'congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0014250 familial hyperprolactinemia 'familial hyperprolactinemia' SubClassOf 'genetic infertility' 'familial hyperprolactinemia' EquivalentTo 'hyperprolactinemia' and ('has modifier' some 'inherited') 'familial hyperprolactinemia' SubClassOf 'genetic nervous system disorder' 'familial hyperprolactinemia' EquivalentTo 'hyperprolactinemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 'growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014263 8q24.3 microdeletion syndrome '8q24.3 microdeletion syndrome' SubClassOf 'syndromic renal or urinary tract malformation' '8q24.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014271 STT3B-CDG 'STT3B-CDG' SubClassOf 'congenital nervous system disorder' 'STT3B-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014270 STT3A-CDG 'STT3A-CDG' SubClassOf 'congenital nervous system disorder' 'STT3A-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014274 L-ferritin deficiency 'L-ferritin deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014273 microcephaly-thin corpus callosum-intellectual disability syndrome 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'microcephaly-thin corpus callosum-intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014289 macrocephaly-developmental delay syndrome 'macrocephaly-developmental delay syndrome' SubClassOf 'genetic nervous system disorder' 'macrocephaly-developmental delay syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.orpha.net/ORDO/Orphanet_391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome 'Short stature-optic atrophy-Pelger-Huët anomaly syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://www.ebi.ac.uk/efo/EFO_0007705 manic episode measurement 'manic episode measurement' SubClassOf 'is_about' some 'bipolar disorder' 'manic episode measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0004985 http://purl.obolibrary.org/obo/HP_0000720 Mood swings 'Mood swings' SubClassOf 'Abnormal emotion/affect behavior' 'Mood swings' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0004976 amyotrophic lateral sclerosis 'amyotrophic lateral sclerosis' SubClassOf 'has modifier' some 'rare' 'amyotrophic lateral sclerosis' SubClassOf 'bearer_of' some 'rare' 'amyotrophic lateral sclerosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007752 VCaP 'VCaP' SubClassOf 'bearer_of' some 'cancer' 'VCaP' SubClassOf 'bearer_of' some http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0002311 retinal vascular disorder 'retinal vascular disorder' SubClassOf 'disorder of central nervous system or retinal vasculature' http://purl.obolibrary.org/obo/MONDO_0002312 opportunistic mycosis 'opportunistic mycosis' EquivalentTo 'fungal infectious disease' and ('has modifier' some 'opportunistic infectious') 'opportunistic mycosis' SubClassOf 'has modifier' some 'opportunistic infectious' 'opportunistic mycosis' EquivalentTo 'fungal infectious disease' and ('bearer_of' some 'opportunistic infectious') 'opportunistic mycosis' SubClassOf 'bearer_of' some 'opportunistic infectious' 'opportunistic mycosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0002320 congenital nervous system disorder 'congenital nervous system disorder' SubClassOf 'has modifier' some 'congenital' 'congenital nervous system disorder' SubClassOf 'bearer_of' some 'congenital' 'congenital nervous system disorder' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0005127 cancer biomarker measurement 'cancer biomarker measurement' EquivalentTo 'measurement' and ('is_about' some (('cancer' or 'neoplasm') and ('has_role' some 'biomarker'))) 'cancer biomarker measurement' EquivalentTo 'measurement' and ('is_about' some ((http://purl.obolibrary.org/obo/MONDO_0004992 or 'neoplasm') and ('has_role' some 'biomarker'))) http://purl.obolibrary.org/obo/MONDO_0014300 proximal myopathy with extrapyramidal signs 'proximal myopathy with extrapyramidal signs' SubClassOf 'non-dystrophic myopathy' 'proximal myopathy with extrapyramidal signs' SubClassOf 'genetic nervous system disorder' 'proximal myopathy with extrapyramidal signs' SubClassOf 'material entity' 'proximal myopathy with extrapyramidal signs' SubClassOf 'myopathy' 'proximal myopathy with extrapyramidal signs' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014306 vasculitis due to ADA2 deficiency 'vasculitis due to ADA2 deficiency' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0002336 inflammatory and toxic neuropathy 'inflammatory and toxic neuropathy' SubClassOf 'inflammatory disease' 'inflammatory and toxic neuropathy' SubClassOf 'peripheral neuropathy' 'inflammatory and toxic neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014310 hereditary sclerosing poikiloderma with tendon and pulmonary involvement 'hereditary sclerosing poikiloderma with tendon and pulmonary involvement' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0016979 MRCS syndrome 'MRCS syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0014314 sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 'sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002100 cardiovascular cancer 'cardiovascular cancer' SubClassOf 'cancer' 'cardiovascular cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0016749 tumor of cranial and spinal nerves 'tumor of cranial and spinal nerves' SubClassOf 'has modifier' some 'rare' 'tumor of cranial and spinal nerves' SubClassOf 'bearer_of' some 'rare' 'tumor of cranial and spinal nerves' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016748 hemangioblastoma 'hemangioblastoma' SubClassOf 'has modifier' some 'rare' 'hemangioblastoma' SubClassOf 'material entity' 'hemangioblastoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016756 inherited nervous system cancer-predisposing syndrome 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'has modifier' some 'rare' 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'material entity' 'inherited nervous system cancer-predisposing syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016764 isolated anophthalmia-microphthalmia syndrome 'isolated anophthalmia-microphthalmia syndrome' EquivalentTo 'anophthalmia-microphthalmia syndrome' and ('has modifier' some 'has an isolated presentation') 'isolated anophthalmia-microphthalmia syndrome' EquivalentTo 'anophthalmia-microphthalmia syndrome' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0016760 microcephaly-microcornea syndrome, Seemanova type 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'genetic nervous system disorder' 'microcephaly-microcornea syndrome, Seemanova type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0016778 iatrogenic botulism 'iatrogenic botulism' EquivalentTo 'botulism' and ('has modifier' some 'iatrogenic') 'iatrogenic botulism' EquivalentTo 'botulism' and ('bearer_of' some 'iatrogenic') http://purl.obolibrary.org/obo/MONDO_0014119 intellectual disability-strabismus syndrome 'intellectual disability-strabismus syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002149 reproductive system cancer 'reproductive system cancer' SubClassOf 'cancer' 'reproductive system cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0016789 pyruvate metabolism disorder 'pyruvate metabolism disorder' SubClassOf 'inherited organic acidemia' 'pyruvate metabolism disorder' SubClassOf 'disorder of organic acid metabolism' 'pyruvate metabolism disorder' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0016784 gestational trophoblastic disease 'gestational trophoblastic disease' SubClassOf 'has modifier' some 'rare' 'gestational trophoblastic disease' SubClassOf 'bearer_of' some 'rare' 'gestational trophoblastic disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014137 precocious puberty, central, 2 'precocious puberty, central, 2' SubClassOf 'central precocious puberty' 'precocious puberty, central, 2' SubClassOf 'Central precocious puberty' http://purl.obolibrary.org/obo/MONDO_0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form 'mitochondrial DNA depletion syndrome, encephalomyopathic form' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 'hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014142 autosomal recessive limb-girdle muscular dystrophy type 2T 'autosomal recessive limb-girdle muscular dystrophy type 2T' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014157 mandibular hypoplasia-deafness-progeroid syndrome 'mandibular hypoplasia-deafness-progeroid syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 'multiple congenital anomalies-hypotonia-seizures syndrome 3' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies 'hypotonia, infantile, with psychomotor retardation and characteristic facies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014196 Hartsfield-Bixler-Demyer syndrome 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'genetic nervous system disorder' 'Hartsfield-Bixler-Demyer syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.orpha.net/ORDO/Orphanet_89844 Lissencephaly syndrome, Norman-Roberts type 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'genetic skin disease' 'Lissencephaly syndrome, Norman-Roberts type' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_0005407 psychosis 'psychosis' SubClassOf 'cognitive disorder' 'psychosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002039 http://purl.obolibrary.org/obo/MONDO_0016808 mitochondrial DNA depletion syndrome, hepatocerebral form 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'has modifier' some 'rare' 'mitochondrial DNA depletion syndrome, hepatocerebral form' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016815 Leigh syndrome with leukodystrophy 'Leigh syndrome with leukodystrophy' SubClassOf 'inherited organic acidemia' http://purl.obolibrary.org/obo/MONDO_0016817 Meier-Gorlin syndrome 'Meier-Gorlin syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Meier-Gorlin syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0016818 Mikati-Najjar-Sahli syndrome 'Mikati-Najjar-Sahli syndrome' SubClassOf 'has modifier' some 'rare' 'Mikati-Najjar-Sahli syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016812 dopa-responsive dystonia 'dopa-responsive dystonia' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0016825 mitochondrial myopathy-lactic acidosis-deafness syndrome 'mitochondrial myopathy-lactic acidosis-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016820 Moyamoya disease 'Moyamoya disease' SubClassOf 'genetic central nervous system and retinal vascular disease' 'Moyamoya disease' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016821 shoulder and girdle defects-familial intellectual disability syndrome 'shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'shoulder and girdle defects-familial intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016830 Emery-Dreifuss muscular dystrophy 'Emery-Dreifuss muscular dystrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0004647 in situ carcinoma 'in situ carcinoma' SubClassOf 'has modifier' some 'tumor grade 3, general grading system' 'in situ carcinoma' SubClassOf 'bearer_of' some 'tumor grade 3, general grading system' http://purl.obolibrary.org/obo/MONDO_0016624 inherited deficiency anemia 'inherited deficiency anemia' EquivalentTo 'deficiency anemia' and ('has modifier' some 'inherited') 'inherited deficiency anemia' EquivalentTo 'deficiency anemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016625 acquired deficiency anemia 'acquired deficiency anemia' SubClassOf 'has modifier' some 'acquired' 'acquired deficiency anemia' EquivalentTo 'deficiency anemia' and ('has modifier' some 'acquired') 'acquired deficiency anemia' EquivalentTo 'deficiency anemia' and ('bearer_of' some 'acquired') 'acquired deficiency anemia' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0004657 disseminated chorioretinitis 'disseminated chorioretinitis' EquivalentTo 'chorioretinitis' and ('has modifier' some 'disseminated') 'disseminated chorioretinitis' SubClassOf 'has modifier' some 'disseminated' 'disseminated chorioretinitis' EquivalentTo 'chorioretinitis' and ('bearer_of' some 'disseminated') 'disseminated chorioretinitis' SubClassOf 'bearer_of' some 'disseminated' 'disseminated chorioretinitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016649 Warburg micro syndrome 'Warburg micro syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014006 Schuurs-Hoeijmakers syndrome 'Schuurs-Hoeijmakers syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0016660 autosomal recessive primary microcephaly 'autosomal recessive primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://www.orpha.net/ORDO/Orphanet_271844 Genetic urogenital tumor 'Genetic urogenital tumor' SubClassOf 'urogenital neoplasm' http://purl.obolibrary.org/obo/MONDO_0016685 low-grade astrocytoma 'low-grade astrocytoma' SubClassOf 'astrocytoma (excluding glioblastoma)' 'low-grade astrocytoma' EquivalentTo 'astrocytoma (excluding glioblastoma)' and ('has modifier' some 'tumor grade 1 or 2, general grading system') 'low-grade astrocytoma' EquivalentTo 'astrocytoma' and ('bearer_of' some 'tumor grade 1 or 2, general grading system') 'low-grade astrocytoma' SubClassOf 'astrocytoma' http://purl.obolibrary.org/obo/MONDO_0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'neurometabolic disease' 'congenital muscular dystrophy with intellectual disability and severe epilepsy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016680 high grade astrocytic tumor 'high grade astrocytic tumor' SubClassOf 'astrocytoma' 'high grade astrocytic tumor' SubClassOf http://purl.obolibrary.org/obo/MONDO_0021636 http://purl.obolibrary.org/obo/MONDO_0014020 hereditary spastic paraplegia 55 'hereditary spastic paraplegia 55' SubClassOf 'eye degenerative disorder' 'hereditary spastic paraplegia 55' SubClassOf 'facial paralysis' http://purl.obolibrary.org/obo/MONDO_0014035 severe intellectual disability-progressive spastic diplegia syndrome 'severe intellectual disability-progressive spastic diplegia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0016697 low grade ependymoma 'low grade ependymoma' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'low grade ependymoma' EquivalentTo 'ependymoma' and ('has modifier' some 'tumor grade 1, general grading system') 'low grade ependymoma' EquivalentTo 'ependymoma' and ('bearer_of' some 'tumor grade 1, general grading system') 'low grade ependymoma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/MONDO_0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 'severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014044 dysmorphism-conductive hearing loss-heart defect syndrome 'dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf 'syndromic genetic hearing loss' 'dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'dysmorphism-conductive hearing loss-heart defect syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0002087 peritoneum cancer 'peritoneum cancer' SubClassOf 'cancer' 'peritoneum cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0014096 microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome 'microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'genetic nervous system disorder' 'microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0005321 molar-incisor hypomineralization 'molar-incisor hypomineralization' SubClassOf 'head disorder' http://purl.obolibrary.org/obo/MONDO_0004705 liver solitary fibrous tumor 'liver solitary fibrous tumor' SubClassOf 'liver neoplasm' 'liver solitary fibrous tumor' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0016708 embryonal tumor of neuroepithelial tissue 'embryonal tumor of neuroepithelial tissue' SubClassOf 'has modifier' some 'rare' 'embryonal tumor of neuroepithelial tissue' SubClassOf 'bearer_of' some 'rare' 'embryonal tumor of neuroepithelial tissue' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0004736 inherited amino acid metabolic disorder 'inherited amino acid metabolic disorder' SubClassOf 'inherited organic acidemia' 'inherited amino acid metabolic disorder' SubClassOf 'amino acid metabolism disease' 'inherited amino acid metabolic disorder' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0004737 homocystinuria 'homocystinuria' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0004739 urea cycle disorder 'urea cycle disorder' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0016729 mixed neuronal-glial tumor 'mixed neuronal-glial tumor' SubClassOf 'has modifier' some 'rare' 'mixed neuronal-glial tumor' SubClassOf 'bearer_of' some 'rare' 'mixed neuronal-glial tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016726 neuronal tumor 'neuronal tumor' SubClassOf 'has modifier' some 'rare' 'neuronal tumor' SubClassOf 'material entity' 'neuronal tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016721 pineal tumor of neuroepithelial tissue 'pineal tumor of neuroepithelial tissue' SubClassOf 'has modifier' some 'rare' 'pineal tumor of neuroepithelial tissue' SubClassOf 'bearer_of' some 'rare' 'pineal tumor of neuroepithelial tissue' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016735 papillary glioneuronal tumor 'papillary glioneuronal tumor' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'papillary glioneuronal tumor' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/MONDO_0004527 congenital granular cell tumor 'congenital granular cell tumor' EquivalentTo 'Granular Cell Tumor' and ('has modifier' some 'congenital') 'congenital granular cell tumor' EquivalentTo 'Granular Cell Tumor' and ('bearer_of' some 'congenital') http://purl.obolibrary.org/obo/MONDO_0016518 isolated punctate palmoplantar keratoderma 'isolated punctate palmoplantar keratoderma' EquivalentTo 'punctate palmoplantar keratoderma' and ('has modifier' some 'has an isolated presentation') 'isolated punctate palmoplantar keratoderma' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated punctate palmoplantar keratoderma' EquivalentTo 'punctate palmoplantar keratoderma' and ('bearer_of' some 'has an isolated presentation') 'isolated punctate palmoplantar keratoderma' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0016515 Kallmann syndrome-heart disease syndrome 'Kallmann syndrome-heart disease syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Kallmann syndrome-heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0016510 epibulbar lipodermoid-preauricular appendage-polythelia syndrome 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'has modifier' some 'rare' 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'bearer_of' some 'rare' 'epibulbar lipodermoid-preauricular appendage-polythelia syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016511 infectious embryofetopathy 'infectious embryofetopathy' SubClassOf 'has modifier' some 'rare' 'infectious embryofetopathy' SubClassOf 'bearer_of' some 'rare' 'infectious embryofetopathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016512 Kabuki syndrome 'Kabuki syndrome' SubClassOf 'genetic nervous system disorder' 'Kabuki syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Kabuki syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016525 familial hyperaldosteronism 'familial hyperaldosteronism' SubClassOf 'has modifier' some 'rare' 'familial hyperaldosteronism' EquivalentTo 'hyperaldosteronism' and ('has modifier' some 'inherited') 'familial hyperaldosteronism' SubClassOf 'bearer_of' some 'rare' 'familial hyperaldosteronism' EquivalentTo 'hyperaldosteronism' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016524 congenital vascular bone syndrome 'congenital vascular bone syndrome' SubClassOf 'has modifier' some 'rare' 'congenital vascular bone syndrome' SubClassOf 'bearer_of' some 'rare' 'congenital vascular bone syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016520 isolated Klippel-Feil syndrome 'isolated Klippel-Feil syndrome' EquivalentTo 'Klippel-Feil syndrome' and ('has modifier' some 'has an isolated presentation') 'isolated Klippel-Feil syndrome' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated Klippel-Feil syndrome' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated Klippel-Feil syndrome' EquivalentTo 'Klippel-Feil syndrome' and ('bearer_of' some 'has an isolated presentation') http://www.ebi.ac.uk/efo/EFO_0003094 ganglioglioma 'ganglioglioma' SubClassOf 'has modifier' some 'tumor grade 1, general grading system' 'ganglioglioma' SubClassOf 'bearer_of' some 'tumor grade 1, general grading system' http://purl.obolibrary.org/obo/MONDO_0004557 congenital fibrosarcoma 'congenital fibrosarcoma' SubClassOf 'has modifier' some 'congenital' 'congenital fibrosarcoma' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0016532 Lennox-Gastaut syndrome 'Lennox-Gastaut syndrome' SubClassOf 'syndromic disease' 'Lennox-Gastaut syndrome' SubClassOf 'syndromic dyslipidemia' 'Lennox-Gastaut syndrome' SubClassOf 'developmental and epileptic encephalopathy' http://purl.obolibrary.org/obo/MONDO_0016541 acquired secondary polycythemia 'acquired secondary polycythemia' EquivalentTo 'secondary polycythemia' and ('has modifier' some 'acquired') 'acquired secondary polycythemia' EquivalentTo 'secondary polycythemia' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'has modifier' some 'rare' 'immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0004573 ariboflavinosis 'ariboflavinosis' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0016558 familial congenital mirror movements 'familial congenital mirror movements' SubClassOf 'genetic nervous system disorder' 'familial congenital mirror movements' SubClassOf 'bearer_of' some 'rare' 'familial congenital mirror movements' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016556 transient congenital hypothyroidism due to neonatal factor 'transient congenital hypothyroidism due to neonatal factor' SubClassOf 'transient congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0016550 congenital primary megaureter, obstructed form 'congenital primary megaureter, obstructed form' SubClassOf 'has modifier' some 'congenital' 'congenital primary megaureter, obstructed form' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0016551 congenital primary megaureter, refluxing form 'congenital primary megaureter, refluxing form' SubClassOf 'has modifier' some 'congenital' 'congenital primary megaureter, refluxing form' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0016553 isolated congenital hypogonadotropic hypogonadism 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'has modifier' some 'congenital' 'isolated congenital hypogonadotropic hypogonadism' EquivalentTo 'congenital hypogonadotropic hypogonadism' and ('has modifier' some 'has an isolated presentation') 'isolated congenital hypogonadotropic hypogonadism' SubClassOf 'bearer_of' some 'congenital' 'isolated congenital hypogonadotropic hypogonadism' EquivalentTo 'congenital hypogonadotropic hypogonadism' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0004587 hereditary night blindness 'hereditary night blindness' SubClassOf 'genetic nervous system disorder' 'hereditary night blindness' EquivalentTo 'night blindness' and ('has modifier' some 'inherited') 'hereditary night blindness' EquivalentTo 'night blindness' and ('bearer_of' some 'inherited') 'hereditary night blindness' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016565 syndromic genetic obesity 'syndromic genetic obesity' EquivalentTo 'inherited obesity' and ('has modifier' some 'has a syndromic presentation') 'syndromic genetic obesity' EquivalentTo 'inherited obesity' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0016568 Lowe-Kohn-Cohen syndrome 'Lowe-Kohn-Cohen syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016575 primary ciliary dyskinesia 'primary ciliary dyskinesia' SubClassOf 'has modifier' some 'rare' 'primary ciliary dyskinesia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016589 progressive cerebello-cerebral atrophy 'progressive cerebello-cerebral atrophy' SubClassOf 'genetic nervous system disorder' 'progressive cerebello-cerebral atrophy' SubClassOf 'bearer_of' some 'rare' 'progressive cerebello-cerebral atrophy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016584 mandibuloacral dysplasia 'mandibuloacral dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'mandibuloacral dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016596 hyperphosphatasia-intellectual disability syndrome 'hyperphosphatasia-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016593 acquired ataxia 'acquired ataxia' EquivalentTo 'atactic disorder' and ('has modifier' some 'acquired') 'acquired ataxia' SubClassOf 'has modifier' some 'acquired' 'acquired ataxia' EquivalentTo 'atactic disorder' and ('bearer_of' some 'acquired') 'acquired ataxia' SubClassOf 'material entity' 'acquired ataxia' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0100354 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 'megacystis-microcolon-intestinal hypoperistalsis syndrome 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100366 occupational disorder 'occupational disorder' SubClassOf 'disease' 'occupational disorder' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0005668 anterior chamber depth measurement 'anterior chamber depth measurement' SubClassOf 'is_about' some 'glaucoma' 'anterior chamber depth measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0005041 http://www.ebi.ac.uk/efo/EFO_0005669 intracerebral hemorrhage 'intracerebral hemorrhage' SubClassOf 'intracranial hemorrhage' 'intracerebral hemorrhage' SubClassOf 'intracranial hemorrhage' http://www.ebi.ac.uk/efo/EFO_0005672 acute coronary syndrome 'acute coronary syndrome' SubClassOf 'acute disease' http://www.ebi.ac.uk/efo/EFO_0005676 Autoimmune Hepatitis 'Autoimmune Hepatitis' SubClassOf 'has modifier' some 'rare' 'Autoimmune Hepatitis' SubClassOf 'bearer_of' some 'rare' 'Autoimmune Hepatitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/HP_0010668 Abnormal zygomatic bone morphology 'Abnormal zygomatic bone morphology' SubClassOf 'Abnormality of the face' http://purl.obolibrary.org/obo/MONDO_0016602 citrin deficiency 'citrin deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800153 http://purl.obolibrary.org/obo/MONDO_0016611 lipoblastoma 'lipoblastoma' SubClassOf 'has modifier' some 'rare' 'lipoblastoma' SubClassOf 'bearer_of' some 'rare' 'lipoblastoma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016419 hereditary breast carcinoma 'hereditary breast carcinoma' EquivalentTo 'breast carcinoma' and ('has modifier' some 'inherited') 'hereditary breast carcinoma' EquivalentTo 'breast carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016417 congenital ichthyosis-microcephalus-tetraplegia syndrome 'congenital ichthyosis-microcephalus-tetraplegia syndrome' SubClassOf 'has modifier' some 'congenital' 'congenital ichthyosis-microcephalus-tetraplegia syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0016414 hypotrichosis-intellectual disability, Lopes type 'hypotrichosis-intellectual disability, Lopes type' SubClassOf 'has modifier' some 'rare' 'hypotrichosis-intellectual disability, Lopes type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016424 progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome 'progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0016434 acquired dermis elastic tissue disorder 'acquired dermis elastic tissue disorder' SubClassOf 'has modifier' some 'acquired' 'acquired dermis elastic tissue disorder' EquivalentTo 'dermis elastic tissue disorder' and ('has modifier' some 'acquired') 'acquired dermis elastic tissue disorder' EquivalentTo 'dermis elastic tissue disorder' and ('bearer_of' some 'acquired') 'acquired dermis elastic tissue disorder' SubClassOf 'bearer_of' some 'acquired' 'acquired dermis elastic tissue disorder' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016446 acquired cutis laxa 'acquired cutis laxa' EquivalentTo 'cutis laxa' and ('has modifier' some 'acquired') 'acquired cutis laxa' EquivalentTo 'cutis laxa' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0016441 acquired pseudoxanthoma elasticum 'acquired pseudoxanthoma elasticum' EquivalentTo 'pseudoxanthoma elasticum (inherited or acquired)' and ('has modifier' some 'acquired') 'acquired pseudoxanthoma elasticum' SubClassOf 'has modifier' some 'acquired' 'acquired pseudoxanthoma elasticum' SubClassOf 'bearer_of' some 'acquired' 'acquired pseudoxanthoma elasticum' SubClassOf 'material entity' 'acquired pseudoxanthoma elasticum' EquivalentTo 'pseudoxanthoma elasticum (inherited or acquired)' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0016456 5q14.3 microdeletion syndrome '5q14.3 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' '5q14.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0016454 severe early-onset axonal neuropathy due to NEFL deficiency 'severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'severe early-onset axonal neuropathy due to NEFL deficiency' SubClassOf 'Charcot-Marie-Tooth disease type 2' http://purl.obolibrary.org/obo/MONDO_0016469 Ehlers-Danlos syndrome, vascular-like type 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, vascular-like type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016462 isolated agammaglobulinemia 'isolated agammaglobulinemia' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('has modifier' some 'has an isolated presentation') 'isolated agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('bearer_of' some 'has an isolated presentation') 'isolated agammaglobulinemia' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0016463 syndromic agammaglobulinemia 'syndromic agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('has modifier' some 'has a syndromic presentation') 'syndromic agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0016460 polyvalvular heart disease syndrome 'polyvalvular heart disease syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'polyvalvular heart disease syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0016471 pachyonychia congenita 'pachyonychia congenita' SubClassOf 'syndromic nail anomaly' http://purl.obolibrary.org/obo/MONDO_0016483 intracranial berry aneurysm 'intracranial berry aneurysm' SubClassOf 'genetic central nervous system and retinal vascular disease' 'intracranial berry aneurysm' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100284 X-linked intellectual disability 'X-linked intellectual disability' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100255 adenosine kinase deficiency 'adenosine kinase deficiency' SubClassOf 'neurometabolic disease' 'adenosine kinase deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0100237 inherited cutis laxa 'inherited cutis laxa' EquivalentTo 'cutis laxa' and ('has modifier' some 'inherited') 'inherited cutis laxa' SubClassOf 'genetic skin disease' 'inherited cutis laxa' SubClassOf 'genetic disorder' 'inherited cutis laxa' EquivalentTo 'cutis laxa' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0100247 multiple congenital anomalies-hypotonia-seizures syndrome 'multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'multiple congenital anomalies-hypotonia-seizures syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100249 46,XX testicular disorder of sex development '46,XX testicular disorder of sex development' SubClassOf 'has modifier' some 'rare' '46,XX testicular disorder of sex development' SubClassOf 'difference of sexual differentiation' '46,XX testicular disorder of sex development' SubClassOf 'material entity' '46,XX testicular disorder of sex development' SubClassOf 'bearer_of' some 'rare' '46,XX testicular disorder of sex development' SubClassOf '46,XX disorder of sex development' http://purl.obolibrary.org/obo/MONDO_0100339 Friedreich ataxia 'Friedreich ataxia' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0100342 malignant glioma 'malignant glioma' SubClassOf 'has modifier' some 'rare' 'malignant glioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100348 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities 'neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 'neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities' SubClassOf 'autosomal recessive disease' http://purl.obolibrary.org/obo/MONDO_0100349 COACH syndrome 'COACH syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100310 hereditary cerebellar ataxia 'hereditary cerebellar ataxia' EquivalentTo 'cerebellar ataxia' and ('has modifier' some 'inherited') 'hereditary cerebellar ataxia' EquivalentTo 'cerebellar ataxia' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0005549 diphtheria 'diphtheria' SubClassOf 'has modifier' some 'rare' 'diphtheria' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005581 red-green color blindness 'red-green color blindness' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0005580 red color blindness 'red color blindness' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0005585 shigellosis 'shigellosis' SubClassOf 'has modifier' some 'rare' 'shigellosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005584 seborrheic keratosis 'seborrheic keratosis' SubClassOf 'genetic skin disease' 'seborrheic keratosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018924 microphthalmia, Lenz type 'microphthalmia, Lenz type' SubClassOf 'lens shape anomaly' 'microphthalmia, Lenz type' SubClassOf 'X-linked syndromic intellectual disability' 'microphthalmia, Lenz type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0018923 22q11.2 deletion syndrome '22q11.2 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' '22q11.2 deletion syndrome' SubClassOf 'syndromic renal or urinary tract malformation' '22q11.2 deletion syndrome' SubClassOf 'syndromic genetic hearing loss' '22q11.2 deletion syndrome' SubClassOf 'syndromic urogenital tract malformation' '22q11.2 deletion syndrome' SubClassOf 'congenital nervous system disorder' '22q11.2 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0018925 familial or sporadic hemiplegic migraine 'familial or sporadic hemiplegic migraine' SubClassOf 'disorder of central nervous system or retinal vasculature' http://purl.obolibrary.org/obo/MONDO_0018939 muscle-eye-brain disease 'muscle-eye-brain disease' SubClassOf 'neurometabolic disease' 'muscle-eye-brain disease' SubClassOf 'syndromic myopia' http://purl.obolibrary.org/obo/MONDO_0018938 mucopolysaccharidosis type 4 'mucopolysaccharidosis type 4' SubClassOf 'has modifier' some 'rare' 'mucopolysaccharidosis type 4' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018937 mucopolysaccharidosis type 3 'mucopolysaccharidosis type 3' SubClassOf 'neurometabolic disease' 'mucopolysaccharidosis type 3' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018949 distal myopathy 'distal myopathy' SubClassOf 'genetic nervous system disorder' 'distal myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018945 McLeod neuroacanthocytosis syndrome 'McLeod neuroacanthocytosis syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0018943 myofibrillar myopathy 'myofibrillar myopathy' SubClassOf 'non-dystrophic myopathy' http://purl.obolibrary.org/obo/MONDO_0018940 congenital myasthenic syndrome 'congenital myasthenic syndrome' SubClassOf 'genetic nervous system disorder' 'congenital myasthenic syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018956 idiopathic bronchiectasis 'idiopathic bronchiectasis' SubClassOf 'has modifier' some 'rare' 'idiopathic bronchiectasis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018958 nemaline myopathy 'nemaline myopathy' SubClassOf 'non-dystrophic myopathy' http://purl.obolibrary.org/obo/MONDO_0018953 parietal foramina 'parietal foramina' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0018954 Loeys-Dietz syndrome 'Loeys-Dietz syndrome' SubClassOf 'has modifier' some 'rare' 'Loeys-Dietz syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018964 homocystinuria without methylmalonic aciduria 'homocystinuria without methylmalonic aciduria' SubClassOf 'cerebral organic aciduria' 'homocystinuria without methylmalonic aciduria' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0016302 isolated congenitally uncorrected transposition of the great arteries 'isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'has modifier' some 'congenital' 'isolated congenitally uncorrected transposition of the great arteries' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018963 hereditary methemoglobinemia 'hereditary methemoglobinemia' EquivalentTo 'methemoglobinemia' and ('has modifier' some 'inherited') 'hereditary methemoglobinemia' EquivalentTo 'methemoglobinemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016303 congenitally uncorrected transposition of the great arteries with cardiac malformation 'congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'has modifier' some 'congenital' 'congenitally uncorrected transposition of the great arteries with cardiac malformation' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018965 Alport syndrome 'Alport syndrome' SubClassOf 'syndromic genetic hearing loss' 'Alport syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018961 familial melanoma 'familial melanoma' EquivalentTo 'melanoma' and ('has modifier' some 'inherited') 'familial melanoma' EquivalentTo 'melanoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018988 iridocorneal endothelial syndrome 'iridocorneal endothelial syndrome' SubClassOf 'disease has feature' some 'glaucoma' 'iridocorneal endothelial syndrome' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0005041 http://purl.obolibrary.org/obo/MONDO_0018997 Noonan syndrome 'Noonan syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Noonan syndrome' SubClassOf 'neurovascular disorder' 'Noonan syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Noonan syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Noonan syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0016330 non-familial hypertrophic cardiomyopathy 'non-familial hypertrophic cardiomyopathy' EquivalentTo 'hypertrophic cardiomyopathy' and ('has modifier' some 'acquired') 'non-familial hypertrophic cardiomyopathy' SubClassOf 'has modifier' some 'acquired' 'non-familial hypertrophic cardiomyopathy' EquivalentTo 'hypertrophic cardiomyopathy' and ('bearer_of' some 'acquired') 'non-familial hypertrophic cardiomyopathy' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0016333 familial dilated cardiomyopathy 'familial dilated cardiomyopathy' EquivalentTo 'dilated cardiomyopathy' and ('has modifier' some 'inherited') 'familial dilated cardiomyopathy' EquivalentTo 'dilated cardiomyopathy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018994 Charcot-Marie-Tooth disease type X 'Charcot-Marie-Tooth disease type X' SubClassOf 'X-linked deafness' 'Charcot-Marie-Tooth disease type X' SubClassOf 'hereditary motor and sensory neuropathy' 'Charcot-Marie-Tooth disease type X' SubClassOf 'X-linked syndromic intellectual disability' 'Charcot-Marie-Tooth disease type X' SubClassOf 'syndromic genetic hearing loss' 'Charcot-Marie-Tooth disease type X' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0100172 intellectual disability, autosomal dominant 'intellectual disability, autosomal dominant' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016349 congenital hydrocephalus 'congenital hydrocephalus' SubClassOf 'genetic nervous system disorder' 'congenital hydrocephalus' SubClassOf 'bearer_of' some 'rare' 'congenital hydrocephalus' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016342 familial isolated arrhythmogenic right ventricular dysplasia 'familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'has modifier' some 'has an isolated presentation' 'familial isolated arrhythmogenic right ventricular dysplasia' EquivalentTo 'arrhythmogenic right ventricular cardiomyopathy' and ('has modifier' some 'has an isolated presentation') 'familial isolated arrhythmogenic right ventricular dysplasia' SubClassOf 'bearer_of' some 'has an isolated presentation' 'familial isolated arrhythmogenic right ventricular dysplasia' EquivalentTo 'arrhythmogenic right ventricular cardiomyopathy' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0016340 familial restrictive cardiomyopathy 'familial restrictive cardiomyopathy' EquivalentTo 'restrictive cardiomyopathy' and ('has modifier' some 'inherited') 'familial restrictive cardiomyopathy' EquivalentTo 'restrictive cardiomyopathy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0100189 apolipoprotein A-I deficiency 'apolipoprotein A-I deficiency' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0016354 xeroderma pigmentosum-Cockayne syndrome complex 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'syndromic genetic hearing loss' 'xeroderma pigmentosum-Cockayne syndrome complex' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0016350 hydrocephalus-blue sclerae-nephropathy syndrome 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'syndromic urogenital tract malformation' 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'hydrocephalus-blue sclerae-nephropathy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0100150 RYR1-related myopathy 'RYR1-related myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016364 Joubert syndrome with ocular defect 'Joubert syndrome with ocular defect' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0016365 familial primary hyperparathyroidism 'familial primary hyperparathyroidism' EquivalentTo 'primary hyperparathyroidism' and ('has modifier' some 'inherited') 'familial primary hyperparathyroidism' SubClassOf 'has modifier' some 'rare' 'familial primary hyperparathyroidism' EquivalentTo 'primary hyperparathyroidism' and ('bearer_of' some 'inherited') 'familial primary hyperparathyroidism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100164 permanent neonatal diabetes mellitus 'permanent neonatal diabetes mellitus' SubClassOf 'inborn errors of metabolism' 'permanent neonatal diabetes mellitus' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0016391 neonatal diabetes mellitus 'neonatal diabetes mellitus' SubClassOf 'has modifier' some 'rare' 'neonatal diabetes mellitus' SubClassOf 'bearer_of' some 'rare' 'neonatal diabetes mellitus' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'material entity' 'hypogonadism-mitral valve prolapse-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100147 SATB2 associated disorder 'SATB2 associated disorder' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0100148 X-linked complex neurodevelopmental disorder 'X-linked complex neurodevelopmental disorder' SubClassOf 'genetic nervous system disorder' 'X-linked complex neurodevelopmental disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0016396 pontocerebellar hypoplasia type 1 'pontocerebellar hypoplasia type 1' SubClassOf 'developmental anomaly of metabolic origin' http://www.ebi.ac.uk/efo/EFO_0005923 AVL induced bursal lymphoma 'AVL induced bursal lymphoma' SubClassOf 'animal disease' 'AVL induced bursal lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700102 'AVL induced bursal lymphoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024905 http://www.ebi.ac.uk/efo/EFO_0005917 generalised epilepsy 'generalised epilepsy' SubClassOf 'genetic nervous system disorder' 'generalised epilepsy' EquivalentTo 'epilepsy' and ('has modifier' some 'idiopathic') 'generalised epilepsy' EquivalentTo 'epilepsy' and ('bearer_of' some 'idiopathic') 'generalised epilepsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100214 Rajab interstitial lung disease with brain calcifications 'Rajab interstitial lung disease with brain calcifications' SubClassOf 'genetic nervous system disorder' 'Rajab interstitial lung disease with brain calcifications' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0005854 allergic rhinitis 'allergic rhinitis' SubClassOf 'genetic otorhinolaryngologic disease' http://www.ebi.ac.uk/efo/EFO_0005855 narcolepsy without cataplexy 'narcolepsy without cataplexy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018801 congenital bilateral absence of vas deferens 'congenital bilateral absence of vas deferens' SubClassOf 'has modifier' some 'congenital' 'congenital bilateral absence of vas deferens' SubClassOf 'genetic infertility' 'congenital bilateral absence of vas deferens' SubClassOf 'bearer_of' some 'congenital' 'congenital bilateral absence of vas deferens' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018829 familial schizencephaly 'familial schizencephaly' EquivalentTo 'schizencephaly' and ('has modifier' some 'inherited') 'familial schizencephaly' SubClassOf 'genetic disorder' 'familial schizencephaly' EquivalentTo 'schizencephaly' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018827 familial chilblain lupus 'familial chilblain lupus' EquivalentTo 'chilblain lupus' and ('has modifier' some 'inherited') 'familial chilblain lupus' SubClassOf 'genetic skin disease' 'familial chilblain lupus' EquivalentTo 'chilblain lupus' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018839 acquired schizencephaly 'acquired schizencephaly' EquivalentTo 'schizencephaly' and ('has modifier' some 'acquired') 'acquired schizencephaly' SubClassOf 'has modifier' some 'acquired' 'acquired schizencephaly' EquivalentTo 'schizencephaly' and ('bearer_of' some 'acquired') 'acquired schizencephaly' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0018838 lissencephaly spectrum disorders 'lissencephaly spectrum disorders' SubClassOf 'genetic nervous system disorder' 'lissencephaly spectrum disorders' SubClassOf 'genetic disorder' 'lissencephaly spectrum disorders' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018831 HTRA1-related cerebral small vessel disease 'HTRA1-related cerebral small vessel disease' SubClassOf 'cerebral small vessel disease' 'HTRA1-related cerebral small vessel disease' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0100091 inherited pseudoxanthoma elasticum 'inherited pseudoxanthoma elasticum' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018848 IgG4-related retroperitoneal fibrosis 'IgG4-related retroperitoneal fibrosis' SubClassOf 'has modifier' some 'rare' 'IgG4-related retroperitoneal fibrosis' SubClassOf 'bearer_of' some 'rare' 'IgG4-related retroperitoneal fibrosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018855 keratosis pilaris atrophicans 'keratosis pilaris atrophicans' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0018852 achromatopsia 'achromatopsia' SubClassOf 'genetic nervous system disorder' 'achromatopsia' SubClassOf 'syndromic myopia' 'achromatopsia' SubClassOf 'retinopathy' http://purl.obolibrary.org/obo/MONDO_0018851 familial keratoacanthoma 'familial keratoacanthoma' EquivalentTo 'keratoacanthoma' and ('has modifier' some 'inherited') 'familial keratoacanthoma' EquivalentTo 'keratoacanthoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0018868 metachromatic leukodystrophy 'metachromatic leukodystrophy' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0016203 hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 'hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'has modifier' some 'rare' 'hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016205 IRVAN syndrome 'IRVAN syndrome' SubClassOf 'disorder of central nervous system or retinal vasculature' 'IRVAN syndrome' SubClassOf 'has modifier' some 'rare' 'IRVAN syndrome' SubClassOf 'bearer_of' some 'rare' 'IRVAN syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018866 Aicardi-Goutieres syndrome 'Aicardi-Goutieres syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0018860 microlissencephaly-micromelia syndrome 'microlissencephaly-micromelia syndrome' SubClassOf 'has modifier' some 'rare' 'microlissencephaly-micromelia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100089 GATA1-Related X-Linked Cytopenia 'GATA1-Related X-Linked Cytopenia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016213 leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome 'leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome' SubClassOf 'syndromic nail anomaly' http://purl.obolibrary.org/obo/MONDO_0018875 Li-Fraumeni syndrome 'Li-Fraumeni syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016215 spastic quadriplegic cerebral palsy 'spastic quadriplegic cerebral palsy' SubClassOf 'genetic nervous system disorder' 'spastic quadriplegic cerebral palsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018878 branchiootic syndrome 'branchiootic syndrome' SubClassOf 'syndromic genetic hearing loss' 'branchiootic syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'branchiootic syndrome' SubClassOf 'congenital nervous system disorder' 'branchiootic syndrome' SubClassOf 'bearer_of' some 'rare' 'branchiootic syndrome' SubClassOf 'syndromic disease' 'branchiootic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016210 alternating hemiplegia 'alternating hemiplegia' SubClassOf 'genetic nervous system disorder' 'alternating hemiplegia' SubClassOf 'neurodevelopmental disorder' 'alternating hemiplegia' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0018870 arterial calcification of infancy 'arterial calcification of infancy' SubClassOf 'has modifier' some 'rare' 'arterial calcification of infancy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0100054 idiopathic anaphylaxis 'idiopathic anaphylaxis' EquivalentTo 'anaphylaxis' and ('has modifier' some 'idiopathic') 'idiopathic anaphylaxis' EquivalentTo 'anaphylaxis' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0600001 glutaminase deficiency 'glutaminase deficiency' SubClassOf 'neurometabolic disease' 'glutaminase deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0600003 bacterial hemorrhagic fever 'bacterial hemorrhagic fever' SubClassOf 'has modifier' some 'rare' 'bacterial hemorrhagic fever' SubClassOf 'material entity' 'bacterial hemorrhagic fever' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0016229 genetic vascular anomaly 'genetic vascular anomaly' EquivalentTo 'vascular anomaly' and ('has modifier' some 'inherited') 'genetic vascular anomaly' SubClassOf 'has modifier' some 'rare' 'genetic vascular anomaly' SubClassOf 'bearer_of' some 'rare' 'genetic vascular anomaly' EquivalentTo 'vascular anomaly' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016226 specific language disorder 'specific language disorder' SubClassOf 'has modifier' some 'rare' 'specific language disorder' SubClassOf 'material entity' 'specific language disorder' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018889 hyaline body myopathy 'hyaline body myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' 'hyaline body myopathy' SubClassOf 'qualitative or quantitative defects of beta-myosin heavy chain (MYH7)' http://purl.obolibrary.org/obo/MONDO_0018888 congenital cornea plana 'congenital cornea plana' SubClassOf 'has modifier' some 'congenital' 'congenital cornea plana' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0018883 Berardinelli-Seip congenital lipodystrophy 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'has modifier' some 'congenital' 'Berardinelli-Seip congenital lipodystrophy' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0016222 spindle cell hemangioma 'spindle cell hemangioma' SubClassOf 'has modifier' some 'rare' 'spindle cell hemangioma' SubClassOf 'bearer_of' some 'rare' 'spindle cell hemangioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016223 infantile hemangioma of rare localization 'infantile hemangioma of rare localization' SubClassOf 'has modifier' some 'rare' 'infantile hemangioma of rare localization' SubClassOf 'bearer_of' some 'rare' 'infantile hemangioma of rare localization' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0018884 Roch-Leri mesosomatous lipomatosis 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'has modifier' some 'rare' 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'bearer_of' some 'rare' 'Roch-Leri mesosomatous lipomatosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0100061 PRPS1 deficiency disorder 'PRPS1 deficiency disorder' SubClassOf 'genetic peripheral neuropathy' 'PRPS1 deficiency disorder' SubClassOf 'peripheral neuropathy' http://purl.obolibrary.org/obo/MONDO_0100062 developmental and epileptic encephalopathy 'developmental and epileptic encephalopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0100064 tyrosine hydroxylase deficiency 'tyrosine hydroxylase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0100069 hearing impairment and infertile male syndrome 'hearing impairment and infertile male syndrome' SubClassOf 'syndromic genetic hearing loss' 'hearing impairment and infertile male syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0018898 primary cutaneous lymphoma 'primary cutaneous lymphoma' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0016236 kaposiform hemangioendothelioma 'kaposiform hemangioendothelioma' SubClassOf 'has modifier' some 'rare' 'kaposiform hemangioendothelioma' SubClassOf 'material entity' 'kaposiform hemangioendothelioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0018892 Wyburn-Mason syndrome 'Wyburn-Mason syndrome' SubClassOf 'neurovascular disorder' http://purl.obolibrary.org/obo/MONDO_0100038 complex neurodevelopmental disorder 'complex neurodevelopmental disorder' SubClassOf 'neurodevelopmental disorder' 'complex neurodevelopmental disorder' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100039 CDKL5 disorder 'CDKL5 disorder' SubClassOf 'X-linked syndromic intellectual disability' 'CDKL5 disorder' SubClassOf 'motor stereotypies' 'CDKL5 disorder' SubClassOf 'pervasive developmental disorder' 'CDKL5 disorder' SubClassOf 'X-linked complex neurodevelopmental disorder' 'CDKL5 disorder' SubClassOf 'bearer_of' some 'rare' 'CDKL5 disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016248 familial ovarian cancer 'familial ovarian cancer' EquivalentTo 'ovarian cancer' and ('has modifier' some 'inherited') 'familial ovarian cancer' EquivalentTo 'ovarian cancer' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016241 alternating hemiplegia of childhood 'alternating hemiplegia of childhood' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0100040 FOXG1 disorder 'FOXG1 disorder' SubClassOf 'genetic nervous system disorder' 'FOXG1 disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0016256 Hennekam syndrome 'Hennekam syndrome' SubClassOf 'genetic nervous system disorder' 'Hennekam syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri 'adenocarcinoma of cervix uteri' SubClassOf 'cervical carcinoma' 'adenocarcinoma of cervix uteri' SubClassOf 'has modifier' some 'rare' 'adenocarcinoma of cervix uteri' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0016277 malignant mixed epithelial and mesenchymal tumor of cervix uteri 'malignant mixed epithelial and mesenchymal tumor of cervix uteri' SubClassOf 'has modifier' some 'rare' 'malignant mixed epithelial and mesenchymal tumor of cervix uteri' SubClassOf 'bearer_of' some 'rare' 'malignant mixed epithelial and mesenchymal tumor of cervix uteri' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0016290 Hernández-Aguirre Negrete syndrome 'Hernández-Aguirre Negrete syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Hernández-Aguirre Negrete syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0016292 nodular neuronal heterotopia 'nodular neuronal heterotopia' SubClassOf 'has modifier' some 'rare' 'nodular neuronal heterotopia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005803 hematologic disease 'hematologic disease' SubClassOf 'has modifier' some 'rare' 'hematologic disease' SubClassOf 'bearer_of' some 'rare' 'hematologic disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0043878 hereditary optic atrophy 'hereditary optic atrophy' EquivalentTo 'optic atrophy' and ('has modifier' some 'inherited') 'hereditary optic atrophy' EquivalentTo 'optic atrophy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0016286 adenoid cystic carcinoma of the cervix uteri 'adenoid cystic carcinoma of the cervix uteri' SubClassOf 'adenocarcinoma of cervix uteri' 'adenoid cystic carcinoma of the cervix uteri' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0016294 Hirschsprung disease-type D brachydactyly syndrome 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease-type D brachydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0016295 neuronal ceroid lipofuscinosis 'neuronal ceroid lipofuscinosis' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0016296 holoprosencephaly 'holoprosencephaly' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'holoprosencephaly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0100100 SELENON-related myopathy 'SELENON-related myopathy' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0005741 infectious disease 'infectious disease' SubClassOf 'toxicity' http://www.ebi.ac.uk/efo/EFO_0005761 lupus nephritis 'lupus nephritis' SubClassOf 'disease arises from feature' some 'systemic lupus erythematosus' 'lupus nephritis' SubClassOf 'is_about' some 'systemic lupus erythematosus' 'lupus nephritis' EquivalentTo 'glomerulonephritis' and ('disease arises from feature' some 'systemic lupus erythematosus') 'lupus nephritis' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/MONDO_0007915 'lupus nephritis' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0007915 'lupus nephritis' EquivalentTo 'glomerulonephritis' and ('disease arises from feature' some http://purl.obolibrary.org/obo/MONDO_0007915) http://www.ebi.ac.uk/efo/EFO_0005760 serum carcinoembryonic antigen measurement 'serum carcinoembryonic antigen measurement' SubClassOf ('is_about' some 'cancer') or ('is_about' some 'liver disease') or ('is_about' some 'inflammatory bowel disease') 'serum carcinoembryonic antigen measurement' SubClassOf ('is_about' some http://purl.obolibrary.org/obo/MONDO_0004992) or ('is_about' some 'liver disease') or ('is_about' some 'inflammatory bowel disease') http://www.ebi.ac.uk/efo/EFO_0003103 urinary tract infection 'urinary tract infection' SubClassOf 'urinary system disease' http://www.ebi.ac.uk/efo/EFO_0003105 spina bifida 'spina bifida' SubClassOf 'genetic nervous system disorder' 'spina bifida' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0003108 essential tremor 'essential tremor' SubClassOf 'genetic nervous system disorder' 'essential tremor' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0005767 rheumatoid factor measurement 'rheumatoid factor measurement' SubClassOf (('is_about' some 'leukemia') or ('is_about' some 'rheumatoid arthritis') or ('is_about' some 'Sjogren syndrome') or ('is_about' some 'systemic lupus erythematosus') or ('is_about' some 'infectious disease')) or ('is_about' some 'systemic scleroderma') 'rheumatoid factor measurement' SubClassOf (('is_about' some http://purl.obolibrary.org/obo/MONDO_0007915) or ('is_about' some 'leukemia') or ('is_about' some 'rheumatoid arthritis') or ('is_about' some 'Sjogren syndrome') or ('is_about' some 'infectious disease')) or ('is_about' some 'systemic scleroderma') http://www.ebi.ac.uk/efo/EFO_0005783 NUT midline carcinoma 'NUT midline carcinoma' SubClassOf 'has modifier' some 'rare' 'NUT midline carcinoma' SubClassOf 'material entity' 'NUT midline carcinoma' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005785 blastoma 'blastoma' SubClassOf 'cancer' 'blastoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_0005773 retinal detachment 'retinal detachment' SubClassOf 'genetic nervous system disorder' 'retinal detachment' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0018904 primary membranoproliferative glomerulonephritis 'primary membranoproliferative glomerulonephritis' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0018916 isolated anorectal malformation 'isolated anorectal malformation' EquivalentTo 'anorectal malformation' and ('has modifier' some 'has an isolated presentation') 'isolated anorectal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated anorectal malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated anorectal malformation' EquivalentTo 'anorectal malformation' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0018919 McCune-Albright syndrome 'McCune-Albright syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0035682 http://purl.obolibrary.org/obo/MONDO_0018911 maturity-onset diabetes of the young 'maturity-onset diabetes of the young' SubClassOf 'has modifier' some 'rare' 'maturity-onset diabetes of the young' SubClassOf 'bearer_of' some 'rare' 'maturity-onset diabetes of the young' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0018910 oculocutaneous albinism 'oculocutaneous albinism' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0009644 neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy 'neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://www.ebi.ac.uk/efo/EFO_0009645 neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 'neurodevelopmental disorder with or without anomalies of the brain, eye, or heart' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with or without anomalies of the brain, eye, or heart' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with or without anomalies of the brain, eye, or heart' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://www.ebi.ac.uk/efo/EFO_0009646 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 'macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss' SubClassOf 'primary glomerular disease' http://www.ebi.ac.uk/efo/EFO_0009664 disease of orbital region 'disease of orbital region' SubClassOf 'face disorder' 'disease of orbital region' SubClassOf 'head disorder' http://www.ebi.ac.uk/efo/EFO_0009663 disease of genitourinary system 'disease of genitourinary system' SubClassOf 'disease' 'disease of genitourinary system' SubClassOf 'urogenital neoplasm' http://www.ebi.ac.uk/efo/EFO_0010642 Neurodevelopmental disorder 'Neurodevelopmental disorder' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0009671 hereditary ataxia 'hereditary ataxia' EquivalentTo 'atactic disorder' and ('has modifier' some 'inherited') 'hereditary ataxia' EquivalentTo 'atactic disorder' and ('bearer_of' some 'inherited') 'hereditary ataxia' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_99807 PEHO-like syndrome 'PEHO-like syndrome' SubClassOf 'genetic nervous system disorder' 'PEHO-like syndrome' SubClassOf 'genetic skin disease' 'PEHO-like syndrome' SubClassOf 'nervous system disease' 'PEHO-like syndrome' SubClassOf 'skin disease' http://www.orpha.net/ORDO/Orphanet_320406 Spastic paraplegia-optic atrophy-neuropathy syndrome 'Spastic paraplegia-optic atrophy-neuropathy syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0000621 immune system cancer 'immune system cancer' SubClassOf 'cancer' 'immune system cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0012608 autosomal recessive lower motor neuron disease with childhood onset 'autosomal recessive lower motor neuron disease with childhood onset' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf 'genetic nervous system disorder' 'polyhydramnios, megalencephaly, and symptomatic epilepsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000637 musculoskeletal system cancer 'musculoskeletal system cancer' SubClassOf 'cancer' 'musculoskeletal system cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0012621 deafness-infertility syndrome 'deafness-infertility syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-infertility syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0000653 integumentary system cancer 'integumentary system cancer' SubClassOf 'cancer' 'integumentary system cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0012637 COG1-CDG 'COG1-CDG' SubClassOf 'syndromic genetic hearing loss' 'COG1-CDG' SubClassOf 'neurometabolic disease' 'COG1-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012635 COG8-CDG 'COG8-CDG' SubClassOf 'congenital nervous system disorder' 'COG8-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012634 craniofacial dysplasia - osteopenia syndrome 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'has modifier' some 'rare' 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'genetic disorder' 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'material entity' 'craniofacial dysplasia - osteopenia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0024637 malignant soft tissue neoplasm 'malignant soft tissue neoplasm' SubClassOf 'cancer' 'malignant soft tissue neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0024623 otorhinolaryngologic disease 'otorhinolaryngologic disease' SubClassOf 'disease' 'otorhinolaryngologic disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0009008 heart defect - tongue hamartoma - polysyndactyly syndrome 'heart defect - tongue hamartoma - polysyndactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart defect - tongue hamartoma - polysyndactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart defect - tongue hamartoma - polysyndactyly syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009007 Jalili syndrome 'Jalili syndrome' SubClassOf 'genetic disorder' 'Jalili syndrome' SubClassOf 'has modifier' some 'rare' 'Jalili syndrome' SubClassOf 'material entity' 'Jalili syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012656 lethal congenital contracture syndrome 3 'lethal congenital contracture syndrome 3' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 3' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0000688 inherited organic acidemia 'inherited organic acidemia' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inherited organic acidemia' SubClassOf 'disorder of organic acid metabolism' 'inherited organic acidemia' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0009019 congenital hereditary endothelial dystrophy of cornea 'congenital hereditary endothelial dystrophy of cornea' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009015 corneal dystrophy-perceptive deafness syndrome 'corneal dystrophy-perceptive deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010008 sarcosinemia 'sarcosinemia' SubClassOf 'inborn disorder of serine family metabolism' 'sarcosinemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100477 'sarcosinemia' SubClassOf 'inborn disorder of serine family metabolism' http://purl.obolibrary.org/obo/MONDO_0012669 Legius syndrome 'Legius syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0009012 multiple pterygium-malignant hyperthermia syndrome 'multiple pterygium-malignant hyperthermia syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009021 Toriello-Carey syndrome 'Toriello-Carey syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Toriello-Carey syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Toriello-Carey syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010002 Rothmund-Thomson syndrome 'Rothmund-Thomson syndrome' SubClassOf 'syndromic cataract' 'Rothmund-Thomson syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010004 EEC syndrome 'EEC syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'EEC syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0000698 gamma-amino butyric acid metabolism disorder 'gamma-amino butyric acid metabolism disorder' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0009028 Crane-Heise syndrome 'Crane-Heise syndrome' SubClassOf 'syndromic intellectual disability' 'Crane-Heise syndrome' SubClassOf 'congenital nervous system disorder' 'Crane-Heise syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Crane-Heise syndrome' SubClassOf 'material entity' 'Crane-Heise syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009026 Costello syndrome 'Costello syndrome' SubClassOf 'genetic skin disease' 'Costello syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009025 apparent mineralocorticoid excess 'apparent mineralocorticoid excess' SubClassOf 'genetic hypertension' 'apparent mineralocorticoid excess' SubClassOf 'syndromic dyslipidemia' 'apparent mineralocorticoid excess' SubClassOf 'steroid inherited metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0010010 Schinzel-Giedion syndrome 'Schinzel-Giedion syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Schinzel-Giedion syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Schinzel-Giedion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Schinzel-Giedion syndrome' SubClassOf 'congenital nervous system disorder' 'Schinzel-Giedion syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012675 corticosteroid-binding globulin deficiency 'corticosteroid-binding globulin deficiency' SubClassOf 'has modifier' some 'rare' 'corticosteroid-binding globulin deficiency' SubClassOf 'genetic disorder' 'corticosteroid-binding globulin deficiency' SubClassOf 'material entity' 'corticosteroid-binding globulin deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010015 anterior segment dysgenesis 7 'anterior segment dysgenesis 7' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0024649 optic tract astrocytoma 'optic tract astrocytoma' SubClassOf 'pituitary cancer' http://purl.obolibrary.org/obo/MONDO_0009036 cardiocranial syndrome, Pfeiffer type 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'genetic nervous system disorder' 'cardiocranial syndrome, Pfeiffer type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009034 craniofacial dyssynostosis 'craniofacial dyssynostosis' SubClassOf 'has modifier' some 'rare' 'craniofacial dyssynostosis' SubClassOf 'bearer_of' some 'rare' 'craniofacial dyssynostosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009033 temtamy syndrome 'temtamy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'temtamy syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009043 generalized resistance to thyroid hormone 'generalized resistance to thyroid hormone' SubClassOf 'has modifier' some 'rare' 'generalized resistance to thyroid hormone' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010027 free sialic acid storage disease, infantile form 'free sialic acid storage disease, infantile form' SubClassOf 'disorder of carbohydrate absorption and transport' http://purl.obolibrary.org/obo/MONDO_0010026 SHORT syndrome 'SHORT syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'SHORT syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'SHORT syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'SHORT syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009046 Fraser syndrome 'Fraser syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Fraser syndrome' SubClassOf 'syndromic genetic hearing loss' 'Fraser syndrome' SubClassOf 'congenital nervous system disorder' 'Fraser syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fraser syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Fraser syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009045 cataract-nephropathy-encephalopathy syndrome 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'syndromic urogenital tract malformation' 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'cataract-nephropathy-encephalopathy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009044 Crigler-Najjar syndrome 'Crigler-Najjar syndrome' SubClassOf 'has modifier' some 'rare' 'Crigler-Najjar syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010031 Sjogren-Larsson syndrome 'Sjogren-Larsson syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'glycogen storage disease' 'glycogen storage disease due to muscle and heart glycogen synthase deficiency' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0012699 autosomal recessive limb-girdle muscular dystrophy type 2M 'autosomal recessive limb-girdle muscular dystrophy type 2M' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010035 Smith-Lemli-Opitz syndrome 'Smith-Lemli-Opitz syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Smith-Lemli-Opitz syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Smith-Lemli-Opitz syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0010038 growth delay due to insulin-like growth factor I resistance 'growth delay due to insulin-like growth factor I resistance' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009064 ocular cystinosis 'ocular cystinosis' SubClassOf 'has modifier' some 'rare' 'ocular cystinosis' SubClassOf 'inborn disorder of amino acid absorption and transport' 'ocular cystinosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009061 cystic fibrosis 'cystic fibrosis' SubClassOf 'has modifier' some 'rare' 'cystic fibrosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010049 spastic paraplegia-glaucoma-intellectual disability syndrome 'spastic paraplegia-glaucoma-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009067 cystinuria 'cystinuria' SubClassOf 'inherited amino acid metabolic disorder' 'cystinuria' SubClassOf 'inborn disorder of amino acid absorption and transport' 'cystinuria' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009075 Dandy-Walker malformation-postaxial polydactyly syndrome 'Dandy-Walker malformation-postaxial polydactyly syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009070 D-glyceric aciduria 'D-glyceric aciduria' SubClassOf 'inborn errors of metabolism' 'D-glyceric aciduria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800152 http://purl.obolibrary.org/obo/MONDO_0009086 deafness-small bowel diverticulosis-neuropathy syndrome 'deafness-small bowel diverticulosis-neuropathy syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-small bowel diverticulosis-neuropathy syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009085 deafness-vitiligo-achalasia syndrome 'deafness-vitiligo-achalasia syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-vitiligo-achalasia syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010066 familial isolated congenital asplenia 'familial isolated congenital asplenia' SubClassOf 'has modifier' some 'congenital' 'familial isolated congenital asplenia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome 'spondylocostal dysostosis-anal and genitourinary malformations syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009082 high myopia-sensorineural deafness syndrome 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic myopia' 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'high myopia-sensorineural deafness syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010068 spondyloepimetaphyseal dysplasia, sponastrime type 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, sponastrime type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0009080 split hand-foot malformation 1 with sensorineural hearing loss 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'syndromic genetic hearing loss' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'congenital nervous system disorder' 'split hand-foot malformation 1 with sensorineural hearing loss' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009089 deafness-oligodontia syndrome 'deafness-oligodontia syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-oligodontia syndrome' SubClassOf 'disorder of development or morphogenesis' 'deafness-oligodontia syndrome' SubClassOf 'bearer_of' some 'rare' 'deafness-oligodontia syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010076 spondyloepimetaphyseal dysplasia, Irapa type 'spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Irapa type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0010077 spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0010079 Canavan disease 'Canavan disease' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010073 spondyloepiphyseal dysplasia tarda, Kohn type 'spondyloepiphyseal dysplasia tarda, Kohn type' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0009538 chronic inflammatory demyelinating polyneuropathy 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'genetic peripheral neuropathy' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'inherited neurodegenerative disorder' 'chronic inflammatory demyelinating polyneuropathy' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009539 congenital mitral malformation 'congenital mitral malformation' SubClassOf 'has modifier' some 'congenital' 'congenital mitral malformation' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0009565 radiation-induced disorder 'radiation-induced disorder' SubClassOf 'disease' 'radiation-induced disorder' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0009567 Spirochaetales Infections 'Spirochaetales Infections' SubClassOf 'has modifier' some 'rare' 'Spirochaetales Infections' SubClassOf 'bearer_of' some 'rare' 'Spirochaetales Infections' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0009553 HIV-associated cancer 'HIV-associated cancer' EquivalentTo 'AIDS-related disease' and ('disease has feature' some 'cancer') 'HIV-associated cancer' SubClassOf 'disease has feature' some 'cancer' 'HIV-associated cancer' SubClassOf 'disease has feature' some http://purl.obolibrary.org/obo/MONDO_0004992 'HIV-associated cancer' EquivalentTo 'AIDS-related disease' and ('disease has feature' some http://purl.obolibrary.org/obo/MONDO_0004992) http://www.ebi.ac.uk/efo/EFO_0010580 blastic plasmacytoid dendritic cell neoplasm 'blastic plasmacytoid dendritic cell neoplasm' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0000509 non-syndromic intellectual disability 'non-syndromic intellectual disability' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic intellectual disability' SubClassOf 'material entity' 'non-syndromic intellectual disability' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'genetic skin disease' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'genetic nervous system disorder' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0012516 mandibulofacial dysostosis-microcephaly syndrome 'mandibulofacial dysostosis-microcephaly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0012514 hypomyelinating leukodystrophy 5 'hypomyelinating leukodystrophy 5' SubClassOf 'eye degenerative disorder' 'hypomyelinating leukodystrophy 5' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0012520 insulin-resistance syndrome type A 'insulin-resistance syndrome type A' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0012524 corticosterone methyloxidase type 2 deficiency 'corticosterone methyloxidase type 2 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012521 herpes simplex encephalitis 'herpes simplex encephalitis' SubClassOf 'genetic nervous system disorder' 'herpes simplex encephalitis' SubClassOf 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0024516 familial acne inversa 'familial acne inversa' SubClassOf 'genetic skin disease' 'familial acne inversa' EquivalentTo 'hidradenitis suppurativa' and ('has modifier' some 'inherited') 'familial acne inversa' SubClassOf 'genetic disorder' 'familial acne inversa' EquivalentTo 'hidradenitis suppurativa' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0012541 deafness with labyrinthine aplasia, microtia, and microdontia 'deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'syndromic genetic hearing loss' 'deafness with labyrinthine aplasia, microtia, and microdontia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000577 congenital anemia 'congenital anemia' EquivalentTo 'anemia' and ('has modifier' some 'congenital') 'congenital anemia' EquivalentTo 'anemia' and ('bearer_of' some 'congenital') http://www.ebi.ac.uk/efo/EFO_1002028 cicatricial alopecia 'cicatricial alopecia' SubClassOf 'genetic skin disease' 'cicatricial alopecia' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0012574 Potocki-Lupski syndrome 'Potocki-Lupski syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012570 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 'body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0024573 familial hypertrophic cardiomyopathy 'familial hypertrophic cardiomyopathy' EquivalentTo 'hypertrophic cardiomyopathy' and ('has modifier' some 'inherited') 'familial hypertrophic cardiomyopathy' EquivalentTo 'hypertrophic cardiomyopathy' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_1002049 glomerular disease 'glomerular disease' SubClassOf 'has modifier' some 'rare' 'glomerular disease' SubClassOf 'bearer_of' some 'rare' 'glomerular disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012589 Pitt-Hopkins syndrome 'Pitt-Hopkins syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Pitt-Hopkins syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012580 hereditary pulmonary alveolar proteinosis 'hereditary pulmonary alveolar proteinosis' EquivalentTo 'pulmonary alveolar proteinosis' and ('has modifier' some 'inherited') 'hereditary pulmonary alveolar proteinosis' EquivalentTo 'pulmonary alveolar proteinosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0012596 PSAT deficiency 'PSAT deficiency' SubClassOf 'syndromic intellectual disability' 'PSAT deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012593 brain-lung-thyroid syndrome 'brain-lung-thyroid syndrome' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007207 chromoblastomycosis 'chromoblastomycosis' SubClassOf 'has modifier' some 'rare' 'chromoblastomycosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007206 choroid plexus cancer 'choroid plexus cancer' SubClassOf 'disorder of central nervous system or retinal vasculature' http://purl.obolibrary.org/obo/MONDO_0012382 hyperinsulinemic hypoglycemia, familial, 4 'hyperinsulinemic hypoglycemia, familial, 4' SubClassOf 'cerebral organic aciduria' 'hyperinsulinemic hypoglycemia, familial, 4' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012399 complex cortical dysplasia with other brain malformations 7 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'complex cortical dysplasia with other brain malformations 7' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012392 2-methylbutyryl-CoA dehydrogenase deficiency '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'cerebral organic aciduria' '2-methylbutyryl-CoA dehydrogenase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012393 congenital brain dysgenesis due to glutamine synthetase deficiency 'congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'congenital nervous system disorder' 'congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'neurometabolic disease' 'congenital brain dysgenesis due to glutamine synthetase deficiency' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0007220 congenital toxoplasmosis 'congenital toxoplasmosis' EquivalentTo 'toxoplasmosis' and ('has modifier' some 'congenital') 'congenital toxoplasmosis' EquivalentTo 'toxoplasmosis' and ('bearer_of' some 'congenital') http://www.ebi.ac.uk/efo/EFO_0007229 cryptococcosis 'cryptococcosis' SubClassOf 'has modifier' some 'rare' 'cryptococcosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007214 common cold 'common cold' SubClassOf 'has modifier' some 'not rare' 'common cold' SubClassOf 'bearer_of' some 'not rare' 'common cold' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007213 Colorado tick fever 'Colorado tick fever' SubClassOf 'Reoviridae infectious disease' http://www.ebi.ac.uk/efo/EFO_0007211 coccidioidomycosis 'coccidioidomycosis' SubClassOf 'has modifier' some 'rare' 'coccidioidomycosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007218 congenital rubella 'congenital rubella' EquivalentTo 'rubella' and ('has modifier' some 'congenital') 'congenital rubella' SubClassOf 'has modifier' some 'congenital' 'congenital rubella' SubClassOf 'bearer_of' some 'congenital' 'congenital rubella' EquivalentTo 'rubella' and ('bearer_of' some 'congenital') http://www.ebi.ac.uk/efo/EFO_0007217 congenital nystagmus 'congenital nystagmus' EquivalentTo 'pathologic nystagmus' and ('has modifier' some 'congenital') 'congenital nystagmus' SubClassOf 'genetic nervous system disorder' 'congenital nystagmus' SubClassOf 'genetic disorder' 'congenital nystagmus' EquivalentTo 'pathologic nystagmus' and ('bearer_of' some 'congenital') http://www.ebi.ac.uk/efo/EFO_0007216 congenital diaphragmatic hernia 'congenital diaphragmatic hernia' SubClassOf 'has modifier' some 'congenital' 'congenital diaphragmatic hernia' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0007219 congenital syphilis 'congenital syphilis' EquivalentTo 'syphilis' and ('has modifier' some 'congenital') 'congenital syphilis' SubClassOf 'has modifier' some 'congenital' 'congenital syphilis' EquivalentTo 'syphilis' and ('bearer_of' some 'congenital') 'congenital syphilis' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0007240 dourine 'dourine' SubClassOf 'animal disease' 'dourine' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024950 http://www.ebi.ac.uk/efo/EFO_0007232 cystoisosporiasis 'cystoisosporiasis' SubClassOf 'has modifier' some 'rare' 'cystoisosporiasis' SubClassOf 'material entity' 'cystoisosporiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007231 cysticercosis 'cysticercosis' SubClassOf 'has modifier' some 'rare' 'cysticercosis' SubClassOf 'bearer_of' some 'rare' 'cysticercosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007230 cyclosporiasis 'cyclosporiasis' SubClassOf 'has modifier' some 'rare' 'cyclosporiasis' SubClassOf 'bearer_of' some 'rare' 'cyclosporiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007238 diphyllobothriasis 'diphyllobothriasis' SubClassOf 'has modifier' some 'rare' 'diphyllobothriasis' SubClassOf 'material entity' 'diphyllobothriasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007263 equine infectious anemia 'equine infectious anemia' SubClassOf 'animal disease' 'equine infectious anemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024950 http://www.ebi.ac.uk/efo/EFO_0007258 ephemeral fever 'ephemeral fever' SubClassOf 'animal disease' 'ephemeral fever' SubClassOf 'cattle disease' http://www.ebi.ac.uk/efo/EFO_0007285 Gerstmann syndrome 'Gerstmann syndrome' SubClassOf 'has modifier' some 'rare' 'Gerstmann syndrome' SubClassOf 'material entity' 'Gerstmann syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007277 foot and mouth disease 'foot and mouth disease' SubClassOf 'animal disease' 'foot and mouth disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024990 'foot and mouth disease' SubClassOf 'cattle disease' 'foot and mouth disease' SubClassOf 'viral disease' http://www.ebi.ac.uk/efo/EFO_0007280 gastrointestinal tuberculosis 'gastrointestinal tuberculosis' SubClassOf 'digestive system disease' http://purl.obolibrary.org/obo/MONDO_0012407 pyridoxal phosphate-responsive seizures 'pyridoxal phosphate-responsive seizures' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012400 cortical dysplasia-focal epilepsy syndrome 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'genetic nervous system disorder' 'cortical dysplasia-focal epilepsy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0012401 congenital stromal corneal dystrophy 'congenital stromal corneal dystrophy' SubClassOf 'genetic disorder' 'congenital stromal corneal dystrophy' SubClassOf 'has modifier' some 'congenital' 'congenital stromal corneal dystrophy' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0000437 cerebellar ataxia 'cerebellar ataxia' SubClassOf 'has modifier' some 'rare' 'cerebellar ataxia' SubClassOf 'material entity' 'cerebellar ataxia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000456 cerebral creatine deficiency syndrome 'cerebral creatine deficiency syndrome' SubClassOf 'cerebral organic aciduria' 'cerebral creatine deficiency syndrome' SubClassOf 'disorder of organic acid metabolism' 'cerebral creatine deficiency syndrome' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0012431 diaphragmatic hernia 3 'diaphragmatic hernia 3' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012436 neonatal diabetes mellitus with congenital hypothyroidism 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'inborn errors of metabolism' 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'has modifier' some 'congenital' 'neonatal diabetes mellitus with congenital hypothyroidism' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0000463 Ochoa syndrome 'Ochoa syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0012446 seborrhea-like dermatitis with psoriasiform elements 'seborrhea-like dermatitis with psoriasiform elements' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0012455 Kleefstra syndrome 'Kleefstra syndrome' SubClassOf 'genetic nervous system disorder' 'Kleefstra syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Kleefstra syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012465 hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'neurometabolic disease' 'hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0009812 secondary malignant neoplasm 'secondary malignant neoplasm' SubClassOf 'cancer' 'secondary malignant neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0024477 liver and intrahepatic bile duct neoplasm 'liver and intrahepatic bile duct neoplasm' SubClassOf 'Hepatobiliary Neoplasm' 'liver and intrahepatic bile duct neoplasm' SubClassOf 'endocrine neoplasm' 'liver and intrahepatic bile duct neoplasm' SubClassOf 'Hepatobiliary Neoplasm' 'liver and intrahepatic bile duct neoplasm' SubClassOf 'liver disease' http://purl.obolibrary.org/obo/MONDO_0012495 spondyloepimetaphyseal dysplasia, Genevieve type 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Genevieve type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0012496 Koolen-de Vries syndrome 'Koolen-de Vries syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0024255 genetic skin disease 'genetic skin disease' SubClassOf 'genetic disorder' 'genetic skin disease' EquivalentTo 'skin disease' and ('has modifier' some 'inherited') 'genetic skin disease' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0024257 hereditary motor neuron disease 'hereditary motor neuron disease' EquivalentTo 'motor neuron disease' and ('has modifier' some 'inherited') 'hereditary motor neuron disease' EquivalentTo 'motor neuron disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0012280 Goldberg-Shprintzen megacolon syndrome 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'genetic nervous system disorder' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Goldberg-Shprintzen megacolon syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0012282 Al-Gazali syndrome 'Al-Gazali syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0012290 CEDNIK syndrome 'CEDNIK syndrome' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007126 Acanthamoeba keratitis 'Acanthamoeba keratitis' SubClassOf 'has modifier' some 'rare' 'Acanthamoeba keratitis' SubClassOf 'bearer_of' some 'rare' 'Acanthamoeba keratitis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007129 acute chest syndrome 'acute chest syndrome' SubClassOf 'acute disease' http://www.ebi.ac.uk/efo/EFO_0007128 actinomycosis 'actinomycosis' SubClassOf 'has modifier' some 'rare' 'actinomycosis' SubClassOf 'bearer_of' some 'rare' 'actinomycosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0024287 congenital vascular malformation 'congenital vascular malformation' EquivalentTo 'vascular malformation' and ('has modifier' some 'congenital') 'congenital vascular malformation' SubClassOf 'has modifier' some 'congenital' 'congenital vascular malformation' EquivalentTo 'vascular malformation' and ('bearer_of' some 'congenital') 'congenital vascular malformation' SubClassOf 'material entity' 'congenital vascular malformation' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0007143 alveolar soft part sarcoma 'alveolar soft part sarcoma' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007146 anisakiasis 'anisakiasis' SubClassOf 'has modifier' some 'rare' 'anisakiasis' SubClassOf 'material entity' 'anisakiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007163 balantidiasis 'balantidiasis' SubClassOf 'has modifier' some 'rare' 'balantidiasis' SubClassOf 'material entity' 'balantidiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007157 aspergillosis 'aspergillosis' SubClassOf 'has modifier' some 'rare' 'aspergillosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007162 babesiosis 'babesiosis' SubClassOf 'has modifier' some 'rare' 'babesiosis' SubClassOf 'bearer_of' some 'rare' 'babesiosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007160 autoimmune thrombocytopenic purpura 'autoimmune thrombocytopenic purpura' SubClassOf 'inherited bleeding disorder, platelet-type' 'autoimmune thrombocytopenic purpura' SubClassOf 'inherited thrombocytopenia' 'autoimmune thrombocytopenic purpura' SubClassOf 'inherited blood coagulation disorder' http://www.ebi.ac.uk/efo/EFO_0007185 brucellosis 'brucellosis' SubClassOf 'has modifier' some 'rare' 'brucellosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007195 cat-scratch disease 'cat-scratch disease' SubClassOf 'has modifier' some 'rare' 'cat-scratch disease' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007193 carbamoyl phosphate synthetase I deficiency disease 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf 'urea cycle disorder' 'carbamoyl phosphate synthetase I deficiency disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800153 http://www.ebi.ac.uk/efo/EFO_0007177 border disease 'border disease' SubClassOf 'animal disease' 'border disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024985 http://www.ebi.ac.uk/efo/EFO_0007180 bovine respiratory disease complex 'bovine respiratory disease complex' SubClassOf 'respiratory system disease' 'bovine respiratory disease complex' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700104 http://www.ebi.ac.uk/efo/EFO_0007181 bovine virus diarrhea-mucosal disease 'bovine virus diarrhea-mucosal disease' SubClassOf 'animal disease' 'bovine virus diarrhea-mucosal disease' SubClassOf 'cattle disease' http://www.ebi.ac.uk/efo/EFO_0007199 central nervous system tuberculosis 'central nervous system tuberculosis' SubClassOf 'disease has feature' some 'pituitary hormone deficiency secondary to a granulomatous disease' http://www.ebi.ac.uk/efo/EFO_0007198 central nervous system AIDS arteritis 'central nervous system AIDS arteritis' SubClassOf 'reproductive system disease' http://www.orpha.net/ORDO/Orphanet_3226 Deafness - lymphedema - leukemia 'Deafness - lymphedema - leukemia' SubClassOf 'genetic skin disease' 'Deafness - lymphedema - leukemia' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0014944 short stature-brachydactyly-obesity-global developmental delay syndrome 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'genetic nervous system disorder' 'short stature-brachydactyly-obesity-global developmental delay syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0000308 primary systemic mycosis 'primary systemic mycosis' EquivalentTo 'systemic mycosis' and ('has modifier' some 'primary infectious') 'primary systemic mycosis' SubClassOf 'has modifier' some 'primary infectious' 'primary systemic mycosis' EquivalentTo 'systemic mycosis' and ('bearer_of' some 'primary infectious') 'primary systemic mycosis' SubClassOf 'bearer_of' some 'primary infectious' http://purl.obolibrary.org/obo/MONDO_0000314 primary bacterial infectious disease 'primary bacterial infectious disease' SubClassOf 'has modifier' some 'primary infectious' 'primary bacterial infectious disease' EquivalentTo 'bacterial disease' and ('has modifier' some 'primary infectious') 'primary bacterial infectious disease' SubClassOf 'bearer_of' some 'primary infectious' 'primary bacterial infectious disease' EquivalentTo 'bacterial disease' and ('bearer_of' some 'primary infectious') 'primary bacterial infectious disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0014958 Harel-Yoon syndrome 'Harel-Yoon syndrome' SubClassOf 'genetic disorder' 'Harel-Yoon syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 'Harel-Yoon syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000316 opportunistic bacterial infectious disease 'opportunistic bacterial infectious disease' SubClassOf 'has modifier' some 'opportunistic infectious' 'opportunistic bacterial infectious disease' EquivalentTo 'bacterial disease' and ('has modifier' some 'opportunistic infectious') 'opportunistic bacterial infectious disease' SubClassOf 'material entity' 'opportunistic bacterial infectious disease' EquivalentTo 'bacterial disease' and ('bearer_of' some 'opportunistic infectious') 'opportunistic bacterial infectious disease' SubClassOf 'bearer_of' some 'opportunistic infectious' http://purl.obolibrary.org/obo/MONDO_0012324 Frias syndrome 'Frias syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Frias syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0024301 acquired mineral metabolism disease 'acquired mineral metabolism disease' EquivalentTo 'mineral metabolism disease' and ('has modifier' some 'acquired') 'acquired mineral metabolism disease' EquivalentTo 'mineral metabolism disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0000351 disorder of methionine catabolism 'disorder of methionine catabolism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0000358 orofacial cleft 'orofacial cleft' SubClassOf 'face disorder' 'orofacial cleft' SubClassOf 'disorder of facial skeleton' http://purl.obolibrary.org/obo/MONDO_0024305 acquired hyperprolactinemia 'acquired hyperprolactinemia' EquivalentTo 'hyperprolactinemia' and ('has modifier' some 'acquired') 'acquired hyperprolactinemia' EquivalentTo 'hyperprolactinemia' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0000355 Ullrich congenital muscular dystrophy 'Ullrich congenital muscular dystrophy' SubClassOf 'genetic nervous system disorder' 'Ullrich congenital muscular dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012332 short stature-delayed bone age due to thyroid hormone metabolism deficiency 'short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'genetic disorder' 'short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf 'peripheral hypothyroidism' 'short stature-delayed bone age due to thyroid hormone metabolism deficiency' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0014995 neurodevelopmental disorder with hypotonia, seizures, and absent language 'neurodevelopmental disorder with hypotonia, seizures, and absent language' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with hypotonia, seizures, and absent language' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with hypotonia, seizures, and absent language' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0024306 acquired lactic acidosis 'acquired lactic acidosis' EquivalentTo 'lactic acidosis' and ('has modifier' some 'acquired') 'acquired lactic acidosis' EquivalentTo 'lactic acidosis' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0000376 respiratory system cancer 'respiratory system cancer' SubClassOf 'cancer' 'respiratory system cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0000386 digestive system neuroendocrine tumor, grade 1/2 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'has modifier' some 'tumor grade 1 or 2, general grading system' 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'material entity' 'digestive system neuroendocrine tumor, grade 1/2' SubClassOf 'bearer_of' some 'tumor grade 1 or 2, general grading system' http://purl.obolibrary.org/obo/MONDO_0024355 respiratory tract infectious disorder 'respiratory tract infectious disorder' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0012368 aminoacylase 1 deficiency 'aminoacylase 1 deficiency' SubClassOf 'inborn aminoacylase deficiency' 'aminoacylase 1 deficiency' SubClassOf 'neurometabolic disease' 'aminoacylase 1 deficiency' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0000166 encephalopathy, acute, infection-induced 'encephalopathy, acute, infection-induced' SubClassOf 'genetic nervous system disorder' 'encephalopathy, acute, infection-induced' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007443 placental insufficiency 'placental insufficiency' SubClassOf 'has modifier' some 'rare' 'placental insufficiency' SubClassOf 'bearer_of' some 'rare' 'placental insufficiency' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007448 pneumocystosis 'pneumocystosis' SubClassOf 'has modifier' some 'rare' 'pneumocystosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012143 hereditary cryohydrocytosis with reduced stomatin 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'genetic nervous system disorder' 'hereditary cryohydrocytosis with reduced stomatin' SubClassOf 'disorder of carbohydrate absorption and transport' http://purl.obolibrary.org/obo/MONDO_0000179 Neu-Laxova syndrome 'Neu-Laxova syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0000173 muscular dystrophy-dystroglycanopathy, type C 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'genetic nervous system disorder' 'muscular dystrophy-dystroglycanopathy, type C' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000172 muscular dystrophy-dystroglycanopathy, type B 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'genetic nervous system disorder' 'muscular dystrophy-dystroglycanopathy, type B' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000171 muscular dystrophy-dystroglycanopathy, type A 'muscular dystrophy-dystroglycanopathy, type A' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0000188 GLUT1 deficiency syndrome 'GLUT1 deficiency syndrome' SubClassOf 'neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_0007460 reactive arthritis 'reactive arthritis' SubClassOf 'has modifier' some 'rare' 'reactive arthritis' SubClassOf 'bearer_of' some 'rare' 'reactive arthritis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007466 retroperitoneal cancer 'retroperitoneal cancer' SubClassOf 'cancer' 'retroperitoneal cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0000181 microcephaly and chorioretinopathy 'microcephaly and chorioretinopathy' SubClassOf 'genetic nervous system disorder' 'microcephaly and chorioretinopathy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0012165 BNAR syndrome 'BNAR syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'BNAR syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'BNAR syndrome' SubClassOf 'syndromic urogenital tract malformation' 'BNAR syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012164 Meacham syndrome 'Meacham syndrome' SubClassOf 'has modifier' some 'rare' 'Meacham syndrome' SubClassOf 'genetic disorder' 'Meacham syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007476 sarcocystosis 'sarcocystosis' SubClassOf 'has modifier' some 'rare' 'sarcocystosis' SubClassOf 'bearer_of' some 'rare' 'sarcocystosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012198 PCWH syndrome 'PCWH syndrome' SubClassOf 'syndromic genetic hearing loss' 'PCWH syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0012192 permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'inborn errors of metabolism' 'permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012190 nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome 'nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0012191 hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 'hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'has modifier' some 'rare' 'hepatoencephalopathy due to combined oxidative phosphorylation defect type 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012197 idiopathic aplastic anemia 'idiopathic aplastic anemia' SubClassOf 'has modifier' some 'acquired' 'idiopathic aplastic anemia' SubClassOf 'bearer_of' some 'acquired' http://www.ebi.ac.uk/efo/EFO_0007494 sporotrichosis 'sporotrichosis' SubClassOf 'has modifier' some 'rare' 'sporotrichosis' SubClassOf 'bearer_of' some 'rare' 'sporotrichosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0002813 lipomatous cancer 'lipomatous cancer' SubClassOf 'cancer' 'lipomatous cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0014805 Hao-Fountain syndrome 'Hao-Fountain syndrome' SubClassOf 'genetic nervous system disorder' 'Hao-Fountain syndrome' SubClassOf 'neurodevelopmental disorder' 'Hao-Fountain syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0014801 even-plus syndrome 'even-plus syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'even-plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0014832 intellectual disability, autosomal recessive 53 'intellectual disability, autosomal recessive 53' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0000200 Zimmermann-Laband syndrome 'Zimmermann-Laband syndrome' SubClassOf 'has modifier' some 'rare' 'Zimmermann-Laband syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0700092 neurodevelopmental disorder 'neurodevelopmental disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0700080 EPHB4-associated vascular malformation spectrum 'EPHB4-associated vascular malformation spectrum' SubClassOf 'genetic vascular anomaly' http://purl.obolibrary.org/obo/MONDO_0012208 congenital reticular ichthyosiform erythroderma 'congenital reticular ichthyosiform erythroderma' SubClassOf 'has modifier' some 'congenital' 'congenital reticular ichthyosiform erythroderma' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0012209 branchiogenic deafness syndrome 'branchiogenic deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'branchiogenic deafness syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'branchiogenic deafness syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'branchiogenic deafness syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012204 familial pseudohyperkalemia 'familial pseudohyperkalemia' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0700069 myopathy caused by variation in POMGNT2 'myopathy caused by variation in POMGNT2' SubClassOf 'qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan' 'myopathy caused by variation in POMGNT2' SubClassOf 'disorder of protein O-glycosylation' http://purl.obolibrary.org/obo/MONDO_0700068 myopathy caused by variation in POMGNT1 'myopathy caused by variation in POMGNT1' SubClassOf 'qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' 'myopathy caused by variation in POMGNT1' SubClassOf 'qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase' http://purl.obolibrary.org/obo/MONDO_0012211 MPDU1-CDG 'MPDU1-CDG' SubClassOf 'neurometabolic disease' 'MPDU1-CDG' SubClassOf 'congenital nervous system disorder' 'MPDU1-CDG' SubClassOf 'genetic skin disease' 'MPDU1-CDG' SubClassOf 'bearer_of' some 'rare' 'MPDU1-CDG' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0012216 foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome 'foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome' SubClassOf 'inborn disorder of amino acid absorption and transport' http://www.ebi.ac.uk/efo/EFO_0007409 Ornithine transcarbamylase deficiency ornithine carbamoyltransferase deficiency 'Ornithine transcarbamylase deficiency' SubClassOf 'urea cycle disorder' 'Ornithine transcarbamylase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800153 http://www.ebi.ac.uk/efo/EFO_0007407 oral tuberculosis 'oral tuberculosis' SubClassOf 'inflammatory disease' 'oral tuberculosis' SubClassOf 'mouth disease' http://purl.obolibrary.org/obo/MONDO_0000254 cutaneous mycosis 'cutaneous mycosis' SubClassOf 'has modifier' some 'restricted to specific location' 'cutaneous mycosis' SubClassOf 'integumentary system disease' 'cutaneous mycosis' SubClassOf 'material entity' 'cutaneous mycosis' SubClassOf 'bearer_of' some 'restricted to specific location' http://purl.obolibrary.org/obo/MONDO_0000256 systemic mycosis 'systemic mycosis' SubClassOf 'has modifier' some 'disseminated' 'systemic mycosis' EquivalentTo 'fungal infectious disease' and ('has modifier' some 'disseminated') 'systemic mycosis' SubClassOf 'material entity' 'systemic mycosis' EquivalentTo 'fungal infectious disease' and ('bearer_of' some 'disseminated') 'systemic mycosis' SubClassOf 'bearer_of' some 'disseminated' http://purl.obolibrary.org/obo/MONDO_0014893 Okur-Chung neurodevelopmental syndrome 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'neurodevelopmental disorder' 'Okur-Chung neurodevelopmental syndrome' SubClassOf 'genetic nervous system disorder' 'Okur-Chung neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0700031 mosaic trisomy 18 'mosaic trisomy 18' EquivalentTo 'trisomy 18' and ('has modifier' some 'mosaic') 'mosaic trisomy 18' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 18' SubClassOf 'bearer_of' some 'mosaic' 'mosaic trisomy 18' EquivalentTo 'trisomy 18' and ('bearer_of' some 'mosaic') http://purl.obolibrary.org/obo/MONDO_0700034 mosaic trisomy 13 'mosaic trisomy 13' EquivalentTo 'trisomy 13' and ('has modifier' some 'mosaic') 'mosaic trisomy 13' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 13' SubClassOf 'bearer_of' some 'mosaic' 'mosaic trisomy 13' EquivalentTo 'trisomy 13' and ('bearer_of' some 'mosaic') http://purl.obolibrary.org/obo/MONDO_0024237 inherited neurodegenerative disorder 'inherited neurodegenerative disorder' EquivalentTo 'neurodegenerative disease' and ('has modifier' some 'inherited') 'inherited neurodegenerative disorder' SubClassOf 'genetic nervous system disorder' 'inherited neurodegenerative disorder' EquivalentTo 'neurodegenerative disease' and ('bearer_of' some 'inherited') 'inherited neurodegenerative disorder' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0007422 parotid disease 'parotid disease' SubClassOf 'face disorder' http://purl.obolibrary.org/obo/MONDO_0012248 autosomal recessive limb-girdle muscular dystrophy type 2K 'autosomal recessive limb-girdle muscular dystrophy type 2K' SubClassOf 'neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_0007417 paracoccidioidomycosis 'paracoccidioidomycosis' SubClassOf 'has modifier' some 'rare' 'paracoccidioidomycosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012251 MEDNIK syndrome 'MEDNIK syndrome' SubClassOf 'syndromic genetic hearing loss' 'MEDNIK syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0000044 hereditary hypophosphatemic rickets 'hereditary hypophosphatemic rickets' EquivalentTo 'hypophosphatemic rickets' and ('has modifier' some 'inherited') 'hereditary hypophosphatemic rickets' EquivalentTo 'hypophosphatemic rickets' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0007328 influenza 'influenza' SubClassOf 'respiratory system disease' http://purl.obolibrary.org/obo/MONDO_0700007 idiopathic disease 'idiopathic disease' EquivalentTo 'disease' and ('has modifier' some 'idiopathic') 'idiopathic disease' SubClassOf 'has modifier' some 'idiopathic' 'idiopathic disease' SubClassOf 'disease' 'idiopathic disease' SubClassOf 'bearer_of' some 'idiopathic' 'idiopathic disease' SubClassOf 'material entity' 'idiopathic disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0700002 ATP1A3-associated neurological disorder 'ATP1A3-associated neurological disorder' SubClassOf 'genetic nervous system disorder' 'ATP1A3-associated neurological disorder' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0007312 HIV wasting syndrome 'HIV wasting syndrome' SubClassOf 'reproductive system disease' http://www.ebi.ac.uk/efo/EFO_0007310 histoplasmosis 'histoplasmosis' SubClassOf 'has modifier' some 'rare' 'histoplasmosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007317 hymenolepiasis 'hymenolepiasis' SubClassOf 'has modifier' some 'rare' 'hymenolepiasis' SubClassOf 'bearer_of' some 'rare' 'hymenolepiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007318 hyperinsulinemic hypoglycemia 'hyperinsulinemic hypoglycemia' SubClassOf 'has modifier' some 'rare' 'hyperinsulinemic hypoglycemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012032 Braddock syndrome 'Braddock syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Braddock syndrome' SubClassOf 'genetic hypertension' 'Braddock syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Braddock syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007342 legionellosis 'legionellosis' SubClassOf 'has modifier' some 'rare' 'legionellosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007348 louping ill 'louping ill' SubClassOf 'animal disease' 'louping ill' SubClassOf http://purl.obolibrary.org/obo/MONDO_0024985 http://www.ebi.ac.uk/efo/EFO_0007347 listeriosis 'listeriosis' SubClassOf 'has modifier' some 'rare' 'listeriosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000062 isolated microphthalmia 'isolated microphthalmia' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated microphthalmia' EquivalentTo 'microphthalmia' and ('has modifier' some 'has an isolated presentation') 'isolated microphthalmia' EquivalentTo 'microphthalmia' and ('bearer_of' some 'has an isolated presentation') 'isolated microphthalmia' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0012052 ALG1-CDG 'ALG1-CDG' SubClassOf 'neurometabolic disease' 'ALG1-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000087 polymicrogyria 'polymicrogyria' SubClassOf 'has modifier' some 'rare' 'polymicrogyria' SubClassOf 'syndromic intellectual disability' 'polymicrogyria' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007366 microsporidiosis 'microsporidiosis' SubClassOf 'has modifier' some 'rare' 'microsporidiosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012061 familial sick sinus syndrome 'familial sick sinus syndrome' EquivalentTo 'sick sinus syndrome' and ('has modifier' some 'inherited') 'familial sick sinus syndrome' EquivalentTo 'sick sinus syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0012064 choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'congenital nervous system disorder' 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'syndromic genetic hearing loss' 'choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012073 ribose-5-P isomerase deficiency 'ribose-5-P isomerase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' 'ribose-5-P isomerase deficiency' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://www.ebi.ac.uk/efo/EFO_0007389 myiasis 'myiasis' SubClassOf 'has modifier' some 'rare' 'myiasis' SubClassOf 'bearer_of' some 'rare' 'myiasis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012081 15q11q13 microduplication syndrome '15q11q13 microduplication syndrome' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0007392 nervous system cancer 'nervous system cancer' SubClassOf 'cancer' 'nervous system cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0012084 aromatic L-amino acid decarboxylase deficiency 'aromatic L-amino acid decarboxylase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012099 AICA-ribosiduria 'AICA-ribosiduria' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_0007382 multiple chemical sensitivity 'multiple chemical sensitivity' SubClassOf 'immune system disease' 'multiple chemical sensitivity' SubClassOf 'syndromic disease' 'multiple chemical sensitivity' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0012095 intellectual disability-brachydactyly-Pierre Robin syndrome 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-brachydactyly-Pierre Robin syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_0007380 mucormycosis 'mucormycosis' SubClassOf 'has modifier' some 'rare' 'mucormycosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007397 nocardiosis 'nocardiosis' SubClassOf 'has modifier' some 'rare' 'nocardiosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014708 ring chromosome 14 'ring chromosome 14' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014714 progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 'progressive microcephaly-seizures-cortical blindness-developmental delay syndrome' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0009904 Lopes-Maciel-Rodan syndrome 'Lopes-Maciel-Rodan syndrome' SubClassOf 'genetic nervous system disorder' 'Lopes-Maciel-Rodan syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0014725 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 'spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0009907 Desmoid-type fibromatosis 'Desmoid-type fibromatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014731 seizures-scoliosis-macrocephaly syndrome 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'neurometabolic disease' 'seizures-scoliosis-macrocephaly syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0026730 Basilicata-Akhtar syndrome 'Basilicata-Akhtar syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Basilicata-Akhtar syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014741 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation 'facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation' SubClassOf 'genetic nervous system disorder' 'facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014746 SLC39A8-CDG 'SLC39A8-CDG' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'SLC39A8-CDG' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0014757 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'genetic nervous system disorder' 'macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0000118 reticulate pigment disorder 'reticulate pigment disorder' SubClassOf 'genetic skin disease' 'reticulate pigment disorder' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012108 spondyloepimetaphyseal dysplasia, matrilin-3 type 'spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, matrilin-3 type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0014769 inherited oocyte maturation defect 'inherited oocyte maturation defect' SubClassOf 'genetic infertility' 'inherited oocyte maturation defect' SubClassOf 'infertility' 'inherited oocyte maturation defect' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014764 spastic paraplegia-severe developmental delay-epilepsy syndrome 'spastic paraplegia-severe developmental delay-epilepsy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0012104 acquired partial lipodystrophy 'acquired partial lipodystrophy' EquivalentTo 'partial lipodystrophy' and ('has modifier' some 'acquired') 'acquired partial lipodystrophy' EquivalentTo 'partial lipodystrophy' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0000137 leukoencephalopathy, megalencephalic 'leukoencephalopathy, megalencephalic' SubClassOf 'genetic nervous system disorder' 'leukoencephalopathy, megalencephalic' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000136 keratosis follicularis spinulosa decalvans 'keratosis follicularis spinulosa decalvans' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800159 http://purl.obolibrary.org/obo/MONDO_0012118 COG7-CDG 'COG7-CDG' SubClassOf 'congenital nervous system disorder' 'COG7-CDG' SubClassOf 'neurometabolic disease' 'COG7-CDG' SubClassOf 'genetic skin disease' 'COG7-CDG' SubClassOf 'bearer_of' some 'rare' 'COG7-CDG' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0012110 growth delay due to insulin-like growth factor type 1 deficiency 'growth delay due to insulin-like growth factor type 1 deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014773 cardiac anomalies - developmental delay - facial dysmorphism syndrome 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'cardiac anomalies - developmental delay - facial dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0012117 ALG9-CDG 'ALG9-CDG' SubClassOf 'congenital nervous system disorder' 'ALG9-CDG' SubClassOf 'neurometabolic disease' 'ALG9-CDG' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014776 spinocerebellar ataxia type 42 'spinocerebellar ataxia type 42' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://www.ebi.ac.uk/efo/EFO_0009963 bipolar I disorder 'bipolar I disorder' SubClassOf 'bipolar disorder' 'bipolar I disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004985 http://www.ebi.ac.uk/efo/EFO_0009964 bipolar II disorder 'bipolar II disorder' SubClassOf 'bipolar disorder' 'bipolar II disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004985 http://www.ebi.ac.uk/efo/EFO_0007304 hepatitis D virus infection 'hepatitis D virus infection' SubClassOf 'has modifier' some 'rare' 'hepatitis D virus infection' SubClassOf 'material entity' 'hepatitis D virus infection' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000141 mosaic variegated aneuploidy syndrome 'mosaic variegated aneuploidy syndrome' SubClassOf 'has modifier' some 'mosaic' 'mosaic variegated aneuploidy syndrome' SubClassOf 'neoplastic syndrome' 'mosaic variegated aneuploidy syndrome' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0012123 congenital disorder of glycosylation type 1E 'congenital disorder of glycosylation type 1E' SubClassOf 'congenital nervous system disorder' 'congenital disorder of glycosylation type 1E' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0012124 sudden infant death-dysgenesis of the testes syndrome 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'genetic disorder' 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'has modifier' some 'rare' 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'material entity' 'sudden infant death-dysgenesis of the testes syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014789 CCDC115-CDG 'CCDC115-CDG' SubClassOf 'has modifier' some 'rare' 'CCDC115-CDG' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014790 TMEM199-CDG 'TMEM199-CDG' SubClassOf 'has modifier' some 'rare' 'TMEM199-CDG' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014572 Lichtenstein-Knorr syndrome 'Lichtenstein-Knorr syndrome' SubClassOf 'syndromic genetic hearing loss' http://www.ebi.ac.uk/efo/EFO_0005044 Leishmaniasis 'Leishmaniasis' SubClassOf 'has modifier' some 'rare' 'Leishmaniasis' SubClassOf 'bearer_of' some 'rare' 'Leishmaniasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0005045 visceral Leishmaniasis 'visceral Leishmaniasis' SubClassOf 'genetic disorder' 'visceral Leishmaniasis' SubClassOf 'bearer_of' some 'inherited' http://purl.obolibrary.org/obo/BTO_0000690 brain cancer cell line 'brain cancer cell line' SubClassOf 'cultured cell' and ('bearer_of' some 'cancer') 'brain cancer cell line' SubClassOf 'cultured cell' and ('bearer_of' some http://purl.obolibrary.org/obo/MONDO_0004992) http://purl.obolibrary.org/obo/MONDO_0002601 teratoma 'teratoma' SubClassOf 'has modifier' some 'rare' 'teratoma' SubClassOf 'material entity' 'teratoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0002605 hepatic angiomyolipoma 'hepatic angiomyolipoma' SubClassOf 'liver neoplasm' 'hepatic angiomyolipoma' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome 'intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014608 mandibulofacial dysostosis with alopecia 'mandibulofacial dysostosis with alopecia' SubClassOf 'syndromic genetic hearing loss' 'mandibulofacial dysostosis with alopecia' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0014601 autosomal recessive spinocerebellar ataxia 20 'autosomal recessive spinocerebellar ataxia 20' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0014611 multiple mitochondrial dysfunctions syndrome 4 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'syndromic hereditary optic neuropathy' 'multiple mitochondrial dysfunctions syndrome 4' SubClassOf 'syndromic dyslipidemia' http://purl.obolibrary.org/obo/MONDO_0014629 autoimmune interstitial lung disease-arthritis syndrome 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'genetic disorder' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'has modifier' some 'rare' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'material entity' 'autoimmune interstitial lung disease-arthritis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome 'severe achondroplasia-developmental delay-acanthosis nigricans syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0002691 liver cancer 'liver cancer' SubClassOf 'liver neoplasm' http://purl.obolibrary.org/obo/MONDO_0014449 congenital analbuminemia 'congenital analbuminemia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'syndromic genetic hearing loss' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'syndromic cataract' 'cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency 'progressive encephalopathy with leukodystrophy due to DECR deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014474 autosomal recessive limb-girdle muscular dystrophy type 2U 'autosomal recessive limb-girdle muscular dystrophy type 2U' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0002516 digestive system cancer 'digestive system cancer' SubClassOf 'cancer' 'digestive system cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0014507 Catel-Manzke syndrome 'Catel-Manzke syndrome' SubClassOf 'genetic nervous system disorder' 'Catel-Manzke syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_0007501 strongyloidiasis 'strongyloidiasis' SubClassOf 'has modifier' some 'rare' 'strongyloidiasis' SubClassOf 'bearer_of' some 'rare' 'strongyloidiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0007507 thoracic outlet syndrome 'thoracic outlet syndrome' SubClassOf 'has modifier' some 'rare' 'thoracic outlet syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014510 fatty acyl-CoA reductase 1 deficiency 'fatty acyl-CoA reductase 1 deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0014512 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 'PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_0007519 trench fever 'trench fever' SubClassOf 'has modifier' some 'rare' 'trench fever' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0007516 toxocariasis 'toxocariasis' SubClassOf 'has modifier' some 'rare' 'toxocariasis' SubClassOf 'material entity' 'toxocariasis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0014532 autosomal dominant mitochondrial myopathy with exercise intolerance 'autosomal dominant mitochondrial myopathy with exercise intolerance' SubClassOf 'neurometabolic disease' http://www.ebi.ac.uk/efo/EFO_0007542 visna 'visna' SubClassOf 'has_disease_location' some ('brain' or ('part_of' some 'brain')) 'visna' SubClassOf 'central nervous system disease' http://purl.obolibrary.org/obo/MONDO_0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect 'motor developmental delay due to 14q32.2 paternally expressed gene defect' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0002579 orbit embryonal rhabdomyosarcoma 'orbit embryonal rhabdomyosarcoma' SubClassOf 'hereditary disorder of connective tissue' http://www.ebi.ac.uk/efo/EFO_0007531 urogenital tuberculosis 'urogenital tuberculosis' SubClassOf 'urogenital neoplasm' http://purl.obolibrary.org/obo/MONDO_0009803 congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 'congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf 'has modifier' some 'congenital' 'congenital osteogenesis imperfecta-microcephaly-cataracts syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009814 osteopenia-intellectual disability-sparse hair syndrome 'osteopenia-intellectual disability-sparse hair syndrome' SubClassOf 'has modifier' some 'rare' 'osteopenia-intellectual disability-sparse hair syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'inborn errors of metabolism' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'has modifier' some 'congenital' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'has modifier' some 'rare' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'material entity' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'bearer_of' some 'congenital' 'pancreatic hypoplasia-diabetes-congenital heart disease syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009825 5-oxoprolinase deficiency '5-oxoprolinase deficiency' SubClassOf 'inborn disorder of the gamma-glutamyl cycle' '5-oxoprolinase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0010814 chondrodysplasia-pseudohermaphroditism syndrome 'chondrodysplasia-pseudohermaphroditism syndrome' SubClassOf 'has modifier' some 'rare' 'chondrodysplasia-pseudohermaphroditism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010816 Qazi Markouizos syndrome 'Qazi Markouizos syndrome' SubClassOf 'has modifier' some 'rare' 'Qazi Markouizos syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009839 progressive supranuclear palsy-parkinsonism syndrome 'progressive supranuclear palsy-parkinsonism syndrome' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0009833 Shwachman-Diamond syndrome 'Shwachman-Diamond syndrome' SubClassOf 'has modifier' some 'rare' 'Shwachman-Diamond syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010825 atrioventricular defect-blepharophimosis-radial and anal defect syndrome 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'atrioventricular defect-blepharophimosis-radial and anal defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010824 disorder of sex development-intellectual disability syndrome 'disorder of sex development-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'disorder of sex development-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010826 childhood absence epilepsy 'childhood absence epilepsy' SubClassOf 'genetic nervous system disorder' 'childhood absence epilepsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009846 pentosuria 'pentosuria' SubClassOf 'disorders of pentose/polyol metabolism' 'pentosuria' SubClassOf 'inborn disorder of pentose phosphate metabolism' http://purl.obolibrary.org/obo/MONDO_0010831 familial caudal dysgenesis 'familial caudal dysgenesis' SubClassOf 'genetic nervous system disorder' 'familial caudal dysgenesis' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001500 intellectual disability with language impairment 'intellectual disability with language impairment' SubClassOf 'intellectual disability' 'intellectual disability with language impairment' SubClassOf 'language impairment' http://purl.obolibrary.org/obo/MONDO_0009841 PEHO syndrome 'PEHO syndrome' SubClassOf 'eye degenerative disorder' 'PEHO syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0009859 PHAVER syndrome 'PHAVER syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PHAVER syndrome' SubClassOf 'bearer_of' some 'rare' 'PHAVER syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009857 persistent Mullerian duct syndrome 'persistent Mullerian duct syndrome' SubClassOf 'has modifier' some 'rare' 'persistent Mullerian duct syndrome' SubClassOf 'bearer_of' some 'rare' 'persistent Mullerian duct syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009856 Peters plus syndrome 'Peters plus syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Peters plus syndrome' SubClassOf 'neurometabolic disease' 'Peters plus syndrome' SubClassOf 'congenital nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001510 specific language impairment 'specific language impairment' SubClassOf 'genetic nervous system disorder' 'specific language impairment' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001518 heavy metal poisoning 'heavy metal poisoning' SubClassOf 'has modifier' some 'rare' 'heavy metal poisoning' SubClassOf 'bearer_of' some 'rare' 'heavy metal poisoning' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001513 liver neoplasm 'liver neoplasm' SubClassOf 'has_disease_location' some ('liver' or ('part_of' some 'liver')) 'liver neoplasm' SubClassOf 'endocrine neoplasm' 'liver neoplasm' SubClassOf 'Hepatobiliary Neoplasm' 'liver neoplasm' SubClassOf 'neoplasm' 'liver neoplasm' SubClassOf 'neoplasm' and ('has_disease_location' some ('liver' or ('part_of' some 'liver'))) http://purl.obolibrary.org/obo/MONDO_0010840 pachygyria-intellectual disability-epilepsy syndrome 'pachygyria-intellectual disability-epilepsy syndrome' SubClassOf 'has modifier' some 'rare' 'pachygyria-intellectual disability-epilepsy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009868 glycogen storage disease IXb 'glycogen storage disease IXb' SubClassOf 'glycogen storage disease' 'glycogen storage disease IXb' SubClassOf 'has modifier' some 'rare' 'glycogen storage disease IXb' SubClassOf 'glycogen storage disease' 'glycogen storage disease IXb' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009867 lethal congenital glycogen storage disease of heart 'lethal congenital glycogen storage disease of heart' SubClassOf 'glycogen storage disease' 'lethal congenital glycogen storage disease of heart' SubClassOf 'has modifier' some 'congenital' 'lethal congenital glycogen storage disease of heart' SubClassOf 'bearer_of' some 'congenital' 'lethal congenital glycogen storage disease of heart' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0007205 diaphyseal medullary stenosis-bone malignancy syndrome 'diaphyseal medullary stenosis-bone malignancy syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800159 http://purl.obolibrary.org/obo/MONDO_0007202 blepharoptosis-myopia-ectopia lentis syndrome 'blepharoptosis-myopia-ectopia lentis syndrome' SubClassOf 'lens position anomaly' 'blepharoptosis-myopia-ectopia lentis syndrome' SubClassOf 'lens disease' http://purl.obolibrary.org/obo/MONDO_0009865 glycogen storage disease due to phosphoglycerate mutase deficiency 'glycogen storage disease due to phosphoglycerate mutase deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0007203 blue rubber bleb nevus 'blue rubber bleb nevus' SubClassOf 'syndromic disease' 'blue rubber bleb nevus' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0007200 blepharonasofacial malformation syndrome 'blepharonasofacial malformation syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'blepharonasofacial malformation syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010855 short tarsus-absence of lower eyelashes syndrome 'short tarsus-absence of lower eyelashes syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short tarsus-absence of lower eyelashes syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short tarsus-absence of lower eyelashes syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009861 phenylketonuria 'phenylketonuria' SubClassOf 'cerebral organic aciduria' 'phenylketonuria' SubClassOf 'disorder of phenylalanine metabolism' 'phenylketonuria' SubClassOf 'neurometabolic disease' 'phenylketonuria' SubClassOf 'disorder of phenylalanine metabolism' http://purl.obolibrary.org/obo/MONDO_0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome 'macrocephaly-spastic paraplegia-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010851 Lowry-MacLean syndrome 'Lowry-MacLean syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Lowry-MacLean syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010865 pseudoaminopterin syndrome 'pseudoaminopterin syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'pseudoaminopterin syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009874 Rabson-Mendenhall syndrome 'Rabson-Mendenhall syndrome' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0010867 PARC syndrome 'PARC syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'PARC syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'PARC syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009872 Bjornstad syndrome 'Bjornstad syndrome' SubClassOf 'genetic epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0009871 pili torti-developmental delay-neurological abnormalities syndrome 'pili torti-developmental delay-neurological abnormalities syndrome' SubClassOf 'syndromic hair shaft abnormality' 'pili torti-developmental delay-neurological abnormalities syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009889 autosomal recessive polycystic kidney disease 'autosomal recessive polycystic kidney disease' SubClassOf 'polycystic kidney disease' 'autosomal recessive polycystic kidney disease' SubClassOf 'genetic infertility' 'autosomal recessive polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' http://purl.obolibrary.org/obo/MONDO_0009883 alpha-2-plasmin inhibitor deficiency 'alpha-2-plasmin inhibitor deficiency' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0010879 CODAS syndrome 'CODAS syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CODAS syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019207 DEND syndrome 'DEND syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019200 retinitis pigmentosa 'retinitis pigmentosa' SubClassOf 'inborn disorder of amino acid absorption and transport' 'retinitis pigmentosa' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0007235 branchiooculofacial syndrome 'branchiooculofacial syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'branchiooculofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020211 syndromic keratoconus 'syndromic keratoconus' EquivalentTo 'keratoconus' and ('has modifier' some 'has a syndromic presentation') 'syndromic keratoconus' EquivalentTo 'keratoconus' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0009895 postaxial polydactyly-dental and vertebral anomalies syndrome 'postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf 'has modifier' some 'rare' 'postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf 'material entity' 'postaxial polydactyly-dental and vertebral anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020210 syndromic hyperopia 'syndromic hyperopia' EquivalentTo 'hyperopia' and ('has modifier' some 'has a syndromic presentation') 'syndromic hyperopia' EquivalentTo 'hyperopia' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0010888 endometriosis of uterus 'endometriosis of uterus' SubClassOf 'endometriosis' 'endometriosis of uterus' SubClassOf 'endometrial disorder' http://purl.obolibrary.org/obo/MONDO_0007231 brachytelephalangy-dysmorphism-Kallmann syndrome 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'brachytelephalangy-dysmorphism-Kallmann syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Brachymorphism-onychodysplasia-dysphalangism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0019216 inborn disorder of amino acid absorption and transport 'inborn disorder of amino acid absorption and transport' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of amino acid absorption and transport' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0020215 syndromic corneal dystrophy 'syndromic corneal dystrophy' EquivalentTo 'corneal dystrophy' and ('has modifier' some 'has a syndromic presentation') 'syndromic corneal dystrophy' EquivalentTo 'corneal dystrophy' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0019218 inborn disorder of bile acid synthesis 'inborn disorder of bile acid synthesis' SubClassOf 'inherited organic acidemia' 'inborn disorder of bile acid synthesis' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of bile acid synthesis' SubClassOf 'disorder of organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0019213 cerebral organic aciduria 'cerebral organic aciduria' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019212 disseminated superficial actinic porokeratosis 'disseminated superficial actinic porokeratosis' SubClassOf 'has modifier' some 'disseminated' 'disseminated superficial actinic porokeratosis' SubClassOf 'bearer_of' some 'disseminated' http://purl.obolibrary.org/obo/MONDO_0020208 syndromic myopia 'syndromic myopia' SubClassOf 'genetic disorder' 'syndromic myopia' SubClassOf 'refractive error' 'syndromic myopia' SubClassOf 'syndromic disease' 'syndromic myopia' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019228 inborn disorder of histidine metabolism 'inborn disorder of histidine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0020204 conjunctival tumor 'conjunctival tumor' SubClassOf 'has modifier' some 'rare' 'conjunctival tumor' SubClassOf 'bearer_of' some 'rare' 'conjunctival tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020203 pigmented conjunctival lesion 'pigmented conjunctival lesion' SubClassOf 'has modifier' some 'rare' 'pigmented conjunctival lesion' SubClassOf 'material entity' 'pigmented conjunctival lesion' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010895 ABCD syndrome 'ABCD syndrome' SubClassOf 'genetic skin disease' 'ABCD syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0019224 inborn disorder of gamma-aminobutyric acid metabolism 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of gamma-aminobutyric acid metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0019225 gluconeogenesis disorder 'gluconeogenesis disorder' SubClassOf 'inborn carbohydrate metabolic disorder' 'gluconeogenesis disorder' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0019222 inborn disorder of methionine cycle and sulfur amino acid metabolism 'inborn disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'inherited organic acidemia' 'inborn disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'disorder of organic acid metabolism' 'inborn disorder of methionine cycle and sulfur amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0007259 craniofaciofrontodigital syndrome 'craniofaciofrontodigital syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0007251 campomelic dysplasia 'campomelic dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'campomelic dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0007252 Gordon syndrome 'Gordon syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Gordon syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019239 inborn disorder of serine family metabolism 'inborn disorder of serine family metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'inborn disorder of serine family metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of serine family metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0020238 inherited vitreous-retinal disease 'inherited vitreous-retinal disease' SubClassOf 'genetic nervous system disorder' 'inherited vitreous-retinal disease' SubClassOf 'genetic disorder' 'inherited vitreous-retinal disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020236 lens position anomaly 'lens position anomaly' SubClassOf 'lens disease' 'lens position anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019235 inborn disorder of phenylalanin or tyrosine metabolism 'inborn disorder of phenylalanin or tyrosine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of phenylalanin or tyrosine metabolism' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0019234 peroxisome biogenesis disorder 'peroxisome biogenesis disorder' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0019232 inborn disorder of peptide metabolism 'inborn disorder of peptide metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of peptide metabolism' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100473 http://purl.obolibrary.org/obo/MONDO_0022880 corticobasal degeneration 'corticobasal degeneration' SubClassOf 'neurodegenerative disease' 'corticobasal degeneration' SubClassOf 'syndromic disease' 'corticobasal degeneration' SubClassOf 'brain disease' 'corticobasal degeneration' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020225 syndromic cataract 'syndromic cataract' SubClassOf 'has modifier' some 'rare' 'syndromic cataract' SubClassOf 'syndromic disease' 'syndromic cataract' SubClassOf 'cataract' 'syndromic cataract' EquivalentTo 'cataract' and ('has modifier' some 'has a syndromic presentation') 'syndromic cataract' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019242 inborn disorder of branched-chain amino acid metabolism 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'inborn disorder of branched-chain amino acid metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0007277 cataract-aberrant oral frenula-growth delay syndrome 'cataract-aberrant oral frenula-growth delay syndrome' SubClassOf 'autosomal dominant cataract' 'cataract-aberrant oral frenula-growth delay syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cataract-aberrant oral frenula-growth delay syndrome' SubClassOf 'autosomal dominant disease' 'cataract-aberrant oral frenula-growth delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007276 cat-eye syndrome 'cat-eye syndrome' SubClassOf 'syndromic urogenital tract malformation' 'cat-eye syndrome' SubClassOf 'genetic disorder' 'cat-eye syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0019257 hemochromatosis type 2 'hemochromatosis type 2' SubClassOf 'has modifier' some 'rare' 'hemochromatosis type 2' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019272 hereditary palmoplantar keratoderma 'hereditary palmoplantar keratoderma' SubClassOf 'genetic skin disease' 'hereditary palmoplantar keratoderma' EquivalentTo 'palmoplantar keratosis' and ('has modifier' some 'inherited') 'hereditary palmoplantar keratoderma' SubClassOf 'genetic disorder' 'hereditary palmoplantar keratoderma' EquivalentTo 'palmoplantar keratosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020240 syndromic retinitis pigmentosa 'syndromic retinitis pigmentosa' EquivalentTo 'retinitis pigmentosa' and ('has modifier' some 'has a syndromic presentation') 'syndromic retinitis pigmentosa' EquivalentTo 'retinitis pigmentosa' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0020249 hereditary optic neuropathy 'hereditary optic neuropathy' SubClassOf 'has modifier' some 'rare' 'hereditary optic neuropathy' SubClassOf 'bearer_of' some 'rare' 'hereditary optic neuropathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019268 epidermal disease 'epidermal disease' SubClassOf 'has modifier' some 'rare' 'epidermal disease' SubClassOf 'material entity' 'epidermal disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019282 syndromic hair shaft abnormality 'syndromic hair shaft abnormality' SubClassOf 'genetic hair anomaly' 'syndromic hair shaft abnormality' SubClassOf 'syndromic disease' 'syndromic hair shaft abnormality' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019281 isolated genetic hair shaft abnormality 'isolated genetic hair shaft abnormality' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated genetic hair shaft abnormality' SubClassOf 'genetic hair anomaly' 'isolated genetic hair shaft abnormality' SubClassOf 'hair anomaly' http://purl.obolibrary.org/obo/MONDO_0019284 inherited isolated nail anomaly 'inherited isolated nail anomaly' SubClassOf 'genetic nail anomaly' 'inherited isolated nail anomaly' SubClassOf 'has modifier' some 'has an isolated presentation' 'inherited isolated nail anomaly' EquivalentTo 'nail disorder' and ('has modifier' some 'has an isolated presentation') and ('has modifier' some 'inherited') 'inherited isolated nail anomaly' SubClassOf 'bearer_of' some 'has an isolated presentation' 'inherited isolated nail anomaly' EquivalentTo 'nail disorder' and ('bearer_of' some 'has an isolated presentation') and ('bearer_of' some 'inherited') 'inherited isolated nail anomaly' SubClassOf 'genetic disorder' 'inherited isolated nail anomaly' SubClassOf 'nail disorder' http://purl.obolibrary.org/obo/MONDO_0019280 hypertrichosis 'hypertrichosis' SubClassOf 'genetic hair anomaly' 'hypertrichosis' SubClassOf 'disorder of pilosebaceous unit' http://purl.obolibrary.org/obo/MONDO_0020275 oculocutaneous or ocular albinism 'oculocutaneous or ocular albinism' SubClassOf 'has modifier' some 'rare' 'oculocutaneous or ocular albinism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019277 epidermal appendage anomaly 'epidermal appendage anomaly' SubClassOf 'has modifier' some 'rare' 'epidermal appendage anomaly' SubClassOf 'bearer_of' some 'rare' 'epidermal appendage anomaly' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019276 inherited epidermolysis bullosa 'inherited epidermolysis bullosa' SubClassOf 'genetic skin disease' 'inherited epidermolysis bullosa' EquivalentTo 'epidermolysis bullosa' and ('has modifier' some 'inherited') 'inherited epidermolysis bullosa' EquivalentTo 'epidermolysis bullosa' and ('bearer_of' some 'inherited') 'inherited epidermolysis bullosa' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019294 mixed dermis disorder 'mixed dermis disorder' SubClassOf 'has modifier' some 'rare' 'mixed dermis disorder' SubClassOf 'bearer_of' some 'rare' 'mixed dermis disorder' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0044211 idiopathic urticaria 'idiopathic urticaria' EquivalentTo 'urticaria' and ('has modifier' some 'idiopathic') 'idiopathic urticaria' EquivalentTo 'urticaria' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0019285 syndromic nail anomaly 'syndromic nail anomaly' SubClassOf 'syndromic disease' 'syndromic nail anomaly' SubClassOf 'genetic nail anomaly' 'syndromic nail anomaly' EquivalentTo 'nail anomaly' and ('has modifier' some 'has a syndromic presentation') 'syndromic nail anomaly' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020292 congenital anomaly of the great arteries 'congenital anomaly of the great arteries' SubClassOf 'has modifier' some 'congenital' 'congenital anomaly of the great arteries' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020295 congenital pulmonary veins anomaly 'congenital pulmonary veins anomaly' SubClassOf 'has modifier' some 'congenital' 'congenital pulmonary veins anomaly' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020289 congenital tricuspid malformation 'congenital tricuspid malformation' SubClassOf 'has modifier' some 'congenital' 'congenital tricuspid malformation' SubClassOf 'bearer_of' some 'congenital' http://www.orpha.net/ORDO/Orphanet_2612 Linear nevus sebaceus syndrome 'Linear nevus sebaceus syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency 'hereditary myopathy with lactic acidosis due to ISCU deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009703 myopathy with abnormal lipid metabolism 'myopathy with abnormal lipid metabolism' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009700 Carey-Fineman-Ziter syndrome 'Carey-Fineman-Ziter syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Carey-Fineman-Ziter syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Carey-Fineman-Ziter syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010708 Pallister-W syndrome 'Pallister-W syndrome' SubClassOf 'congenital nervous system disorder' 'Pallister-W syndrome' SubClassOf 'epilepsy syndrome' 'Pallister-W syndrome' SubClassOf 'orofacial clefting syndrome' 'Pallister-W syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Pallister-W syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Pallister-W syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Pallister-W syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Pallister-W syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009717 Schwartz-Jampel syndrome 'Schwartz-Jampel syndrome' SubClassOf 'syndromic myopia' http://purl.obolibrary.org/obo/MONDO_0009716 Richieri Costa-da Silva syndrome 'Richieri Costa-da Silva syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-da Silva syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010709 early-onset parkinsonism-intellectual disability syndrome 'early-onset parkinsonism-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009711 congenital fiber-type disproportion myopathy 'congenital fiber-type disproportion myopathy' SubClassOf 'congenital myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'TPM3-related myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'RYR1-related myopathy' 'congenital fiber-type disproportion myopathy' SubClassOf 'TPM2-related myopathy' http://purl.obolibrary.org/obo/MONDO_0010702 orofaciodigital syndrome I 'orofaciodigital syndrome I' SubClassOf 'X-linked syndromic intellectual disability' 'orofaciodigital syndrome I' SubClassOf 'genetic sebaceous gland anomaly' 'orofaciodigital syndrome I' SubClassOf 'ectodermal dysplasia syndrome' 'orofaciodigital syndrome I' SubClassOf 'polycystic kidney disease' 'orofaciodigital syndrome I' SubClassOf 'syndromic genetic hearing loss' 'orofaciodigital syndrome I' SubClassOf 'neurodevelopmental disorder' 'orofaciodigital syndrome I' SubClassOf 'syndromic urogenital tract malformation' 'orofaciodigital syndrome I' SubClassOf 'orofaciodigital syndrome' 'orofaciodigital syndrome I' SubClassOf 'X-linked deafness' 'orofaciodigital syndrome I' SubClassOf 'nephropathy-associated ciliopathy' 'orofaciodigital syndrome I' SubClassOf 'syndromic renal or urinary tract malformation' 'orofaciodigital syndrome I' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 'orofaciodigital syndrome I' SubClassOf 'syndromic disease' 'orofaciodigital syndrome I' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0010704 otopalatodigital syndrome type 1 'otopalatodigital syndrome type 1' SubClassOf 'otopalatodigital syndrome' 'otopalatodigital syndrome type 1' SubClassOf 'otopalatodigital syndrome' 'otopalatodigital syndrome type 1' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009729 nephropathy - deafness - hyperparathyroidism syndrome 'nephropathy - deafness - hyperparathyroidism syndrome' SubClassOf 'syndromic genetic hearing loss' 'nephropathy - deafness - hyperparathyroidism syndrome' SubClassOf 'syndromic disease' 'nephropathy - deafness - hyperparathyroidism syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009727 atelosteogenesis type II 'atelosteogenesis type II' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'atelosteogenesis type II' SubClassOf 'congenital nervous system disorder' 'atelosteogenesis type II' SubClassOf 'syndromic intellectual disability' 'atelosteogenesis type II' SubClassOf 'developmental anomaly of metabolic origin' 'atelosteogenesis type II' SubClassOf 'genetic nervous system disorder' 'atelosteogenesis type II' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009724 nail-patella-like renal disease 'nail-patella-like renal disease' SubClassOf 'primary glomerular disease' 'nail-patella-like renal disease' SubClassOf 'kidney disease' http://purl.obolibrary.org/obo/MONDO_0009723 Leigh syndrome 'Leigh syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009722 Bailey-Bloch congenital myopathy 'Bailey-Bloch congenital myopathy' SubClassOf 'genetic nervous system disorder' 'Bailey-Bloch congenital myopathy' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0010711 TARP syndrome 'TARP syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0009721 Nathalie syndrome 'Nathalie syndrome' SubClassOf 'syndromic cataract' 'Nathalie syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009720 Keipert syndrome 'Keipert syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Keipert syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Keipert syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010714 Pelizaeus-Merzbacher disease 'Pelizaeus-Merzbacher disease' SubClassOf 'X-linked syndromic intellectual disability' 'Pelizaeus-Merzbacher disease' SubClassOf 'eye degenerative disorder' 'Pelizaeus-Merzbacher disease' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0010716 X-linked lethal multiple pterygium syndrome 'X-linked lethal multiple pterygium syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_0001639 cancer cell line 'cancer cell line' EquivalentTo 'cultured cell' and ('bearer_of' some 'cancer') 'cancer cell line' SubClassOf 'derives_from' some 'cancer' 'cancer cell line' SubClassOf 'derives_from' some http://purl.obolibrary.org/obo/MONDO_0004992 'cancer cell line' EquivalentTo 'cultured cell' and ('bearer_of' some http://purl.obolibrary.org/obo/MONDO_0004992) http://purl.obolibrary.org/obo/MONDO_0009738 sialidosis type 2 'sialidosis type 2' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009737 galactosialidosis 'galactosialidosis' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009732 congenital nephrotic syndrome, Finnish type 'congenital nephrotic syndrome, Finnish type' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0009731 nephrosis-deafness-urinary tract-digital malformations syndrome 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'congenital nervous system disorder' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'syndromic genetic hearing loss' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'nephrosis-deafness-urinary tract-digital malformations syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010726 Rett syndrome 'Rett syndrome' SubClassOf 'motor stereotypies' 'Rett syndrome' SubClassOf 'X-linked complex neurodevelopmental disorder' 'Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Rett syndrome' SubClassOf 'bearer_of' some 'rare' 'Rett syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010728 SCARF syndrome 'SCARF syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'SCARF syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'SCARF syndrome' SubClassOf 'inherited cutis laxa' 'SCARF syndrome' SubClassOf 'congenital nervous system disorder' 'SCARF syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'SCARF syndrome' SubClassOf 'syndromic craniosynostosis' 'SCARF syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010720 partial androgen insensitivity syndrome 'partial androgen insensitivity syndrome' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0010733 hereditary spastic paraplegia 2 'hereditary spastic paraplegia 2' SubClassOf 'eye degenerative disorder' 'hereditary spastic paraplegia 2' SubClassOf 'complex hereditary spastic paraplegia' 'hereditary spastic paraplegia 2' SubClassOf 'facial paralysis' 'hereditary spastic paraplegia 2' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0010732 spastic paraparesis-deafness syndrome 'spastic paraparesis-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'spastic paraparesis-deafness syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010735 Kennedy disease 'Kennedy disease' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0009740 neurofaciodigitorenal syndrome 'neurofaciodigitorenal syndrome' SubClassOf 'syndromic urogenital tract malformation' 'neurofaciodigitorenal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0009756 Niemann-Pick disease type A 'Niemann-Pick disease type A' SubClassOf 'neurometabolic disease' 'Niemann-Pick disease type A' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010749 trigonocephaly-short stature-developmental delay syndrome 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'syndromic craniosynostosis' 'trigonocephaly-short stature-developmental delay syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010742 pentalogy of Cantrell 'pentalogy of Cantrell' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'pentalogy of Cantrell' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010754 van den Bosch syndrome 'van den Bosch syndrome' SubClassOf 'acrokeratoderma' 'van den Bosch syndrome' SubClassOf 'genetic skin disease' 'van den Bosch syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'van den Bosch syndrome' SubClassOf 'bearer_of' some 'rare' 'van den Bosch syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007101 familial primary localized cutaneous amyloidosis 'familial primary localized cutaneous amyloidosis' SubClassOf 'genetic skin disease' 'familial primary localized cutaneous amyloidosis' EquivalentTo 'primary cutaneous amyloidosis' and ('has modifier' some 'inherited') 'familial primary localized cutaneous amyloidosis' EquivalentTo 'primary cutaneous amyloidosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010758 Wieacker-Wolff syndrome 'Wieacker-Wolff syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Wieacker-Wolff syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Wieacker-Wolff syndrome' SubClassOf 'neurodevelopmental disorder' 'Wieacker-Wolff syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Wieacker-Wolff syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0010752 VACTERL association, X-linked, with or without hydrocephalus 'VACTERL association, X-linked, with or without hydrocephalus' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007119 isolated aniridia 'isolated aniridia' EquivalentTo 'aniridia' and ('has modifier' some 'has an isolated presentation') 'isolated aniridia' EquivalentTo 'aniridia' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0007116 hereditary neurocutaneous angioma 'hereditary neurocutaneous angioma' SubClassOf 'genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0007113 Angelman syndrome 'Angelman syndrome' SubClassOf 'genetic nervous system disorder' 'Angelman syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009787 3-methylglutaconic aciduria type 3 '3-methylglutaconic aciduria type 3' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0010773 myopathy and diabetes mellitus 'myopathy and diabetes mellitus' SubClassOf 'has modifier' some 'rare' 'myopathy and diabetes mellitus' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019107 Rh deficiency syndrome 'Rh deficiency syndrome' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 'dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'syndromic genetic hearing loss' 'dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'material entity' 'dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' 'dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0019101 retinal capillary malformation 'retinal capillary malformation' SubClassOf 'genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0009798 intellectual disability-cataracts-calcified pinnae-myopathy syndrome 'intellectual disability-cataracts-calcified pinnae-myopathy syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-cataracts-calcified pinnae-myopathy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010787 Kearns-Sayre syndrome 'Kearns-Sayre syndrome' SubClassOf 'syndromic genetic hearing loss' 'Kearns-Sayre syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0007134 Cooks syndrome 'Cooks syndrome' SubClassOf 'syndromic nail anomaly' http://purl.obolibrary.org/obo/MONDO_0010789 MELAS syndrome 'MELAS syndrome' SubClassOf 'syndromic genetic hearing loss' 'MELAS syndrome' SubClassOf 'neurometabolic disease' 'MELAS syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009794 orofaciodigital syndrome IV 'orofaciodigital syndrome IV' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009793 orofaciodigital syndrome III 'orofaciodigital syndrome III' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007131 anonychia with flexural pigmentation 'anonychia with flexural pigmentation' SubClassOf 'syndromic nail anomaly' http://purl.obolibrary.org/obo/MONDO_0009792 ichthyosis-oral and digital anomalies syndrome 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'ichthyosis-oral and digital anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020119 X-linked syndromic intellectual disability 'X-linked syndromic intellectual disability' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019118 inherited retinal dystrophy 'inherited retinal dystrophy' EquivalentTo 'retinal degeneration' and ('has modifier' some 'inherited') 'inherited retinal dystrophy' EquivalentTo 'retinal degeneration' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder 'genetic nervous system disorder' SubClassOf 'nervous system disease' 'genetic nervous system disorder' EquivalentTo 'nervous system disease' and ('has modifier' some 'inherited') 'genetic nervous system disorder' SubClassOf 'genetic disorder' 'genetic nervous system disorder' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010785 maternally-inherited diabetes and deafness 'maternally-inherited diabetes and deafness' SubClassOf 'syndromic genetic hearing loss' 'maternally-inherited diabetes and deafness' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019112 cancer-associated retinopathy 'cancer-associated retinopathy' EquivalentTo 'retinopathy' and ('disease arises from feature' some 'cancer') 'cancer-associated retinopathy' SubClassOf 'disease arises from feature' some 'cancer' 'cancer-associated retinopathy' SubClassOf 'disease arises from feature' some http://purl.obolibrary.org/obo/MONDO_0004992 'cancer-associated retinopathy' EquivalentTo 'retinopathy' and ('disease arises from feature' some http://purl.obolibrary.org/obo/MONDO_0004992) http://purl.obolibrary.org/obo/MONDO_0019111 familial thrombocytosis 'familial thrombocytosis' EquivalentTo 'thrombocytosis disease' and ('has modifier' some 'inherited') 'familial thrombocytosis' EquivalentTo 'thrombocytosis disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007145 aplasia cutis congenita 'aplasia cutis congenita' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0007142 Townes-Brocks syndrome 'Townes-Brocks syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Townes-Brocks syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Townes-Brocks syndrome' SubClassOf 'syndromic genetic hearing loss' 'Townes-Brocks syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Townes-Brocks syndrome' SubClassOf 'congenital nervous system disorder' 'Townes-Brocks syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010790 MERRF syndrome 'MERRF syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0019129 global developmental delay-osteopenia-ectodermal defect syndrome 'global developmental delay-osteopenia-ectodermal defect syndrome' SubClassOf 'has modifier' some 'rare' 'global developmental delay-osteopenia-ectodermal defect syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010794 NARP syndrome 'NARP syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0019128 mullerian aplasia 'mullerian aplasia' SubClassOf 'has modifier' some 'rare' 'mullerian aplasia' SubClassOf 'material entity' 'mullerian aplasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019126 intractable diarrhea of infancy 'intractable diarrhea of infancy' SubClassOf 'has modifier' some 'rare' 'intractable diarrhea of infancy' SubClassOf 'material entity' 'intractable diarrhea of infancy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007159 arthrogryposis-like hand anomaly-sensorineural deafness syndrome 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'arthrogryposis-like hand anomaly-sensorineural deafness syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020135 pontocerebellar hypoplasia 'pontocerebellar hypoplasia' SubClassOf 'genetic nervous system disorder' 'pontocerebellar hypoplasia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007154 arteriovenous malformations of the brain 'arteriovenous malformations of the brain' SubClassOf 'genetic central nervous system and retinal vascular disease' 'arteriovenous malformations of the brain' SubClassOf 'neurovascular disorder' http://purl.obolibrary.org/obo/MONDO_0020132 cranial nerve and nuclear aplasia 'cranial nerve and nuclear aplasia' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019139 acquired hemophilia 'acquired hemophilia' EquivalentTo 'hemophilia' and ('has modifier' some 'acquired') 'acquired hemophilia' EquivalentTo 'hemophilia' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020125 acquired neuromuscular junction disease 'acquired neuromuscular junction disease' SubClassOf 'has modifier' some 'acquired' 'acquired neuromuscular junction disease' EquivalentTo 'neuromuscular junction disease' and ('has modifier' some 'acquired') 'acquired neuromuscular junction disease' SubClassOf 'material entity' 'acquired neuromuscular junction disease' SubClassOf 'bearer_of' some 'acquired' 'acquired neuromuscular junction disease' EquivalentTo 'neuromuscular junction disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020123 metabolic myopathy 'metabolic myopathy' SubClassOf 'non-dystrophic myopathy' 'metabolic myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0007168 atelosteogenesis type III 'atelosteogenesis type III' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'atelosteogenesis type III' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'atelosteogenesis type III' SubClassOf 'genetic nervous system disorder' 'atelosteogenesis type III' SubClassOf 'syndromic intellectual disability' 'atelosteogenesis type III' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020129 acquired motor neuron disease 'acquired motor neuron disease' SubClassOf 'has modifier' some 'acquired' 'acquired motor neuron disease' EquivalentTo 'motor neuron disease' and ('has modifier' some 'acquired') 'acquired motor neuron disease' SubClassOf 'material entity' 'acquired motor neuron disease' SubClassOf 'bearer_of' some 'acquired' 'acquired motor neuron disease' EquivalentTo 'motor neuron disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020127 genetic peripheral neuropathy 'genetic peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and ('has modifier' some 'inherited') 'genetic peripheral neuropathy' SubClassOf 'genetic nervous system disorder' 'genetic peripheral neuropathy' SubClassOf 'bearer_of' some 'rare' 'genetic peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and ('bearer_of' some 'inherited') 'genetic peripheral neuropathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019142 inherited porphyria 'inherited porphyria' EquivalentTo 'porphyria' and ('has modifier' some 'inherited') 'inherited porphyria' EquivalentTo 'porphyria' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020158 eyelids malposition disorder 'eyelids malposition disorder' SubClassOf 'has modifier' some 'rare' 'eyelids malposition disorder' SubClassOf 'bearer_of' some 'rare' 'eyelids malposition disorder' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020159 congenital entropion 'congenital entropion' SubClassOf 'has modifier' some 'congenital' 'congenital entropion' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019154 androgen insensitivity syndrome 'androgen insensitivity syndrome' SubClassOf 'genetic infertility' 'androgen insensitivity syndrome' SubClassOf 'has modifier' some 'rare' 'androgen insensitivity syndrome' SubClassOf 'material entity' 'androgen insensitivity syndrome' SubClassOf 'bearer_of' some 'rare' 'androgen insensitivity syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0020145 developmental defect of the eye 'developmental defect of the eye' SubClassOf 'has modifier' some 'rare' 'developmental defect of the eye' SubClassOf 'bearer_of' some 'rare' 'developmental defect of the eye' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020144 cerebrovascular dementia 'cerebrovascular dementia' SubClassOf 'has modifier' some 'rare' 'cerebrovascular dementia' SubClassOf 'material entity' 'cerebrovascular dementia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007187 nevoid basal cell carcinoma syndrome 'nevoid basal cell carcinoma syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007188 primary basilar invagination 'primary basilar invagination' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020148 syndromic aniridia 'syndromic aniridia' EquivalentTo 'aniridia' and ('has modifier' some 'has a syndromic presentation') 'syndromic aniridia' SubClassOf 'syndromic cataract' 'syndromic aniridia' SubClassOf 'syndromic disease' 'syndromic aniridia' EquivalentTo 'aniridia' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0019169 pyruvate dehydrogenase deficiency 'pyruvate dehydrogenase deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0019165 central precocious puberty 'central precocious puberty' SubClassOf 'precocious puberty' 'peripheral precocious puberty' DisjointWith 'central precocious puberty' 'central precocious puberty' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019182 inherited obesity 'inherited obesity' EquivalentTo 'obesity' and ('has modifier' some 'inherited') 'inherited obesity' SubClassOf 'has modifier' some 'rare' 'inherited obesity' EquivalentTo 'obesity' and ('bearer_of' some 'inherited') 'inherited obesity' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019181 non-syndromic X-linked intellectual disability 'non-syndromic X-linked intellectual disability' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019180 hereditary hemorrhagic telangiectasia 'hereditary hemorrhagic telangiectasia' SubClassOf 'genetic central nervous system and retinal vascular disease' 'hereditary hemorrhagic telangiectasia' SubClassOf 'genetic skin disease' 'hereditary hemorrhagic telangiectasia' SubClassOf 'neurovascular disorder' http://purl.obolibrary.org/obo/MONDO_0007198 Ascher syndrome 'Ascher syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Ascher syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019178 auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 'auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020161 congenital ectropion 'congenital ectropion' SubClassOf 'has modifier' some 'congenital' 'congenital ectropion' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019193 acquired generalized lipodystrophy 'acquired generalized lipodystrophy' EquivalentTo 'generalized lipodystrophy' and ('has modifier' some 'acquired') 'acquired generalized lipodystrophy' EquivalentTo 'generalized lipodystrophy' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0019191 IgG4-related dacryoadenitis and sialadenitis 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'has modifier' some 'rare' 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'bearer_of' some 'rare' 'IgG4-related dacryoadenitis and sialadenitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020163 canthal anomaly 'canthal anomaly' SubClassOf 'has modifier' some 'rare' 'canthal anomaly' SubClassOf 'material entity' 'canthal anomaly' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019187 Axenfeld-Rieger syndrome 'Axenfeld-Rieger syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Axenfeld-Rieger syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019188 Rubinstein-Taybi syndrome 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Rubinstein-Taybi syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Rubinstein-Taybi syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0020194 congenital alacrima 'congenital alacrima' SubClassOf 'has modifier' some 'congenital' 'congenital alacrima' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020193 secretory apparatus of the lacrimal system anomaly 'secretory apparatus of the lacrimal system anomaly' SubClassOf 'has modifier' some 'rare' 'secretory apparatus of the lacrimal system anomaly' SubClassOf 'bearer_of' some 'rare' 'secretory apparatus of the lacrimal system anomaly' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020196 anomaly of the secretory and excretory apparatus of the lacrimal system 'anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'has modifier' some 'rare' 'anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'material entity' 'anomaly of the secretory and excretory apparatus of the lacrimal system' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020195 excretory apparatus of the lacrimal system anomaly 'excretory apparatus of the lacrimal system anomaly' SubClassOf 'has modifier' some 'rare' 'excretory apparatus of the lacrimal system anomaly' SubClassOf 'bearer_of' some 'rare' 'excretory apparatus of the lacrimal system anomaly' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019197 folinic acid-responsive seizures 'folinic acid-responsive seizures' SubClassOf 'neurometabolic disease' http://www.orpha.net/ORDO/Orphanet_156619 Rare genetic urogenital disease 'Rare genetic urogenital disease' SubClassOf 'urogenital neoplasm' http://www.ebi.ac.uk/efo/EFO_1001349 Human T-lymphotropic virus 2 infectious disease 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'has modifier' some 'rare' 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'deltaretrovirus infections' 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'bearer_of' some 'rare' 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'material entity' 'Human T-lymphotropic virus 2 infectious disease' SubClassOf 'Deltaretrovirus Infections' http://www.ebi.ac.uk/efo/EFO_1001354 Kleine-Levin Syndrome 'Kleine-Levin Syndrome' SubClassOf 'has modifier' some 'rare' 'Kleine-Levin Syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009607 methionine adenosyltransferase deficiency 'methionine adenosyltransferase deficiency' SubClassOf 'cerebral organic aciduria' 'methionine adenosyltransferase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'neurometabolic disease' '3-hydroxyisobutyryl-CoA hydrolase deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009618 microcephaly-cardiomyopathy syndrome 'microcephaly-cardiomyopathy syndrome' SubClassOf 'genetic nervous system disorder' 'microcephaly-cardiomyopathy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010604 hemophilia B 'hemophilia B' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0009627 Galloway-Mowat syndrome 'Galloway-Mowat syndrome' SubClassOf 'genetic nervous system disorder' 'Galloway-Mowat syndrome' SubClassOf 'primary glomerular disease' 'Galloway-Mowat syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009626 pseudo-TORCH syndrome 'pseudo-TORCH syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009623 Nijmegen breakage syndrome 'Nijmegen breakage syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010612 hydrocephaly-cerebellar agenesis syndrome 'hydrocephaly-cerebellar agenesis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'hydrocephaly-cerebellar agenesis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009622 Jawad syndrome 'Jawad syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Jawad syndrome' SubClassOf 'congenital nervous system disorder' 'Jawad syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010611 X-linked hydrocephalus with stenosis of the aqueduct of Sylvius 'X-linked hydrocephalus with stenosis of the aqueduct of Sylvius' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0009621 microcephaly-cervical spine fusion anomalies syndrome 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'genetic nervous system disorder' 'microcephaly-cervical spine fusion anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010614 X-linked congenital generalized hypertrichosis 'X-linked congenital generalized hypertrichosis' SubClassOf 'has modifier' some 'congenital' 'X-linked congenital generalized hypertrichosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009620 Say-Barber-Miller syndrome 'Say-Barber-Miller syndrome' SubClassOf 'genetic nervous system disorder' 'Say-Barber-Miller syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010621 CHILD syndrome 'CHILD syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'CHILD syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001303 Deltaretrovirus Infections 'Deltaretrovirus Infections' SubClassOf 'viral disease' 'Deltaretrovirus Infections' SubClassOf 'primary viral infectious disease' http://purl.obolibrary.org/obo/MONDO_0009642 orofaciodigital syndrome type II 'orofaciodigital syndrome type II' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010638 keratosis follicularis-dwarfism-cerebral atrophy syndrome 'keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf 'epidermal disease' 'keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf 'genetic skin disease' 'keratosis follicularis-dwarfism-cerebral atrophy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010639 laryngeal abductor paralysis-intellectual disability syndrome 'laryngeal abductor paralysis-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'laryngeal abductor paralysis-intellectual disability syndrome' SubClassOf 'respiratory system disease' 'laryngeal abductor paralysis-intellectual disability syndrome' SubClassOf 'syndromic disease' 'laryngeal abductor paralysis-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010631 incontinentia pigmenti 'incontinentia pigmenti' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0009653 mucolipidosis type IV 'mucolipidosis type IV' SubClassOf 'has modifier' some 'rare' 'mucolipidosis type IV' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010649 isolated congenital megalocornea 'isolated congenital megalocornea' SubClassOf 'has modifier' some 'congenital' 'isolated congenital megalocornea' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010655 X-linked intellectual disability with marfanoid habitus 'X-linked intellectual disability with marfanoid habitus' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009664 mulibrey nanism 'mulibrey nanism' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010659 FRAXE intellectual disability 'FRAXE intellectual disability' SubClassOf 'X-linked syndromic intellectual disability' 'FRAXE intellectual disability' SubClassOf 'non-syndromic X-linked intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009670 lethal congenital contracture syndrome 1 'lethal congenital contracture syndrome 1' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'lethal congenital contracture syndrome 1' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010650 Melnick-Needles syndrome 'Melnick-Needles syndrome' SubClassOf 'congenital nervous system disorder' 'Melnick-Needles syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Melnick-Needles syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Melnick-Needles syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010651 Menkes disease 'Menkes disease' SubClassOf 'neurometabolic disease' 'Menkes disease' SubClassOf 'syndromic hair shaft abnormality' 'Menkes disease' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010654 Partington syndrome 'Partington syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Partington syndrome' SubClassOf 'ARX-related epileptic encephalopathy' 'Partington syndrome' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0010653 Renpenning syndrome 'Renpenning syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Renpenning syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Renpenning syndrome' SubClassOf 'congenital nervous system disorder' 'Renpenning syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Renpenning syndrome' SubClassOf 'syndromic anorectal malformation' 'Renpenning syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009679 arthrogryposis due to muscular dystrophy 'arthrogryposis due to muscular dystrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010667 Prieto syndrome 'Prieto syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Prieto syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010668 skeletal dysplasia-intellectual disability syndrome 'skeletal dysplasia-intellectual disability syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009671 intellectual disability-myopathy-short stature-endocrine defect syndrome 'intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf 'has modifier' some 'rare' 'intellectual disability-myopathy-short stature-endocrine defect syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010661 severe X-linked intellectual disability, Gustavson type 'severe X-linked intellectual disability, Gustavson type' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0010662 paraplegia-intellectual disability-hyperkeratosis syndrome 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'congenital nervous system disorder' 'paraplegia-intellectual disability-hyperkeratosis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010665 Wilson-Turner syndrome 'Wilson-Turner syndrome' SubClassOf 'syndromic genetic obesity' 'Wilson-Turner syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Wilson-Turner syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010664 syndromic X-linked intellectual disability Snyder type 'syndromic X-linked intellectual disability Snyder type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800159 http://purl.obolibrary.org/obo/MONDO_0007029 branchio-oto-renal syndrome 'branchio-oto-renal syndrome' SubClassOf 'congenital nervous system disorder' 'branchio-oto-renal syndrome' SubClassOf 'syndromic genetic hearing loss' 'branchio-oto-renal syndrome' SubClassOf 'syndromic urogenital tract malformation' 'branchio-oto-renal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'branchio-oto-renal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'branchio-oto-renal syndrome' SubClassOf 'syndromic disease' 'branchio-oto-renal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010672 linear skin defects with multiple congenital anomalies 'linear skin defects with multiple congenital anomalies' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0010674 mucopolysaccharidosis type 2 'mucopolysaccharidosis type 2' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0019004 kidney Wilms tumor 'kidney Wilms tumor' SubClassOf 'has modifier' some 'rare' 'kidney Wilms tumor' SubClassOf 'bearer_of' some 'rare' 'kidney Wilms tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019006 familial idiopathic steroid-resistant nephrotic syndrome 'familial idiopathic steroid-resistant nephrotic syndrome' EquivalentTo 'idiopathic nephrotic syndrome' and 'steroid-resistant nephrotic syndrome' and ('has modifier' some 'inherited') 'familial idiopathic steroid-resistant nephrotic syndrome' EquivalentTo 'idiopathic nephrotic syndrome' and 'steroid-resistant nephrotic syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019002 Lhermitte-Duclos disease 'Lhermitte-Duclos disease' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0022672 autosomal dominant cataract 'autosomal dominant cataract' SubClassOf 'syndromic cataract' 'autosomal dominant cataract' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0007039 neurofibromatosis type 2 'neurofibromatosis type 2' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009699 action myoclonus-renal failure syndrome 'action myoclonus-renal failure syndrome' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0009697 Lafora disease 'Lafora disease' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0007034 Adams-Oliver syndrome 'Adams-Oliver syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0020010 infectious disorder of the nervous system 'infectious disorder of the nervous system' SubClassOf 'has modifier' some 'rare' 'infectious disorder of the nervous system' SubClassOf 'material entity' 'infectious disorder of the nervous system' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007031 familial abdominal aortic aneurysm 'familial abdominal aortic aneurysm' SubClassOf 'has modifier' some 'rare' 'familial abdominal aortic aneurysm' EquivalentTo 'Abdominal Aortic Aneurysm' and ('has modifier' some 'inherited') 'familial abdominal aortic aneurysm' EquivalentTo 'Abdominal Aortic Aneurysm' and ('bearer_of' some 'inherited') 'familial abdominal aortic aneurysm' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007032 prune belly syndrome 'prune belly syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010683 X-linked centronuclear myopathy 'X-linked centronuclear myopathy' SubClassOf 'congenital structural myopathy' 'X-linked centronuclear myopathy' SubClassOf 'qualitative or quantitative defects of myotubularin' 'X-linked centronuclear myopathy' SubClassOf 'congenital nervous system disorder' 'X-linked centronuclear myopathy' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked centronuclear myopathy' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0020019 digestive tract malformation 'digestive tract malformation' SubClassOf 'has modifier' some 'rare' 'digestive tract malformation' SubClassOf 'material entity' 'digestive tract malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010684 X-linked myopathy with excessive autophagy 'X-linked myopathy with excessive autophagy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010686 N syndrome 'N syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'N syndrome' SubClassOf 'congenital nervous system disorder' 'N syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019012 Carpenter syndrome 'Carpenter syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Carpenter syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010699 Charcot-Marie-Tooth disease X-linked recessive 5 'Charcot-Marie-Tooth disease X-linked recessive 5' SubClassOf 'syndromic hereditary optic neuropathy' 'Charcot-Marie-Tooth disease X-linked recessive 5' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0020001 respiratory or thoracic malformation 'respiratory or thoracic malformation' SubClassOf 'has modifier' some 'rare' 'respiratory or thoracic malformation' SubClassOf 'material entity' 'respiratory or thoracic malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007045 acrofacial dysostosis, Catania type 'acrofacial dysostosis, Catania type' SubClassOf 'genetic nervous system disorder' 'acrofacial dysostosis, Catania type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0007051 acromegaloid facial appearance syndrome 'acromegaloid facial appearance syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'acromegaloid facial appearance syndrome' SubClassOf 'bearer_of' some 'rare' 'acromegaloid facial appearance syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010691 Norrie disease 'Norrie disease' SubClassOf 'syndromic cataract' 'Norrie disease' SubClassOf 'X-linked deafness' 'Norrie disease' SubClassOf 'X-linked syndromic intellectual disability' 'Norrie disease' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010698 optic atrophy 2 'optic atrophy 2' SubClassOf 'eye degenerative disorder' 'optic atrophy 2' SubClassOf 'X-linked syndromic intellectual disability' 'optic atrophy 2' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0019027 otopalatodigital syndrome 'otopalatodigital syndrome' SubClassOf 'X-linked deafness' 'otopalatodigital syndrome' SubClassOf 'congenital nervous system disorder' 'otopalatodigital syndrome' SubClassOf 'branchial arch or oral-acral syndrome' 'otopalatodigital syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'otopalatodigital syndrome' SubClassOf 'syndromic genetic hearing loss' 'otopalatodigital syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'otopalatodigital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019022 sensorineural hearing loss-early graying-essential tremor syndrome 'sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf 'syndromic genetic hearing loss' 'sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf 'bearer_of' some 'rare' 'sensorineural hearing loss-early graying-essential tremor syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019040 chromosomal disorder 'chromosomal disorder' SubClassOf 'has modifier' some 'rare' 'chromosomal disorder' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019042 multiple congenital anomalies/dysmorphic syndrome 'multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'has modifier' some 'congenital' 'multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'bearer_of' some 'congenital' 'multiple congenital anomalies/dysmorphic syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0007059 acrorenal syndrome 'acrorenal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'acrorenal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acrorenal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007057 acroosteolysis dominant type 'acroosteolysis dominant type' SubClassOf 'syndromic urogenital tract malformation' 'acroosteolysis dominant type' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0019050 inherited hemoglobinopathy 'inherited hemoglobinopathy' EquivalentTo 'hemoglobinopathy' and ('has modifier' some 'inherited') 'inherited hemoglobinopathy' EquivalentTo 'hemoglobinopathy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019053 peroxisomal disease 'peroxisomal disease' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019052 inborn errors of metabolism 'inborn errors of metabolism' EquivalentTo 'metabolic disease' and ('has modifier' some 'inherited') 'inborn errors of metabolism' EquivalentTo 'metabolic disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020022 central nervous system malformation 'central nervous system malformation' SubClassOf 'has modifier' some 'rare' 'central nervous system malformation' SubClassOf 'bearer_of' some 'rare' 'central nervous system malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020021 diaphragmatic or abdominal wall malformation 'diaphragmatic or abdominal wall malformation' SubClassOf 'has modifier' some 'rare' 'diaphragmatic or abdominal wall malformation' SubClassOf 'material entity' 'diaphragmatic or abdominal wall malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020020 visceral malformation of the liver, biliary tract, pancreas or spleen 'visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'has modifier' some 'rare' 'visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'bearer_of' some 'rare' 'visceral malformation of the liver, biliary tract, pancreas or spleen' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0007073 hypoglossia-hypodactyly syndrome 'hypoglossia-hypodactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hypoglossia-hypodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0019046 leukodystrophy 'leukodystrophy' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001278 Brown-Pearce carcinoma 'Brown-Pearce carcinoma' SubClassOf 'animal disease' 'Brown-Pearce carcinoma' SubClassOf 'carcinoma' 'Brown-Pearce carcinoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700101 http://purl.obolibrary.org/obo/MONDO_0007077 Tietz syndrome 'Tietz syndrome' SubClassOf 'genetic skin disease' 'Tietz syndrome' SubClassOf 'syndromic genetic hearing loss' 'Tietz syndrome' SubClassOf 'bearer_of' some 'rare' 'Tietz syndrome' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001277 Branchioma 'Branchioma' SubClassOf 'cancer' 'Branchioma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0007078 pseudohypoparathyroidism type 1A 'pseudohypoparathyroidism type 1A' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome 'alopecia-epilepsy-pyorrhea-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019058 neurometabolic disease 'neurometabolic disease' SubClassOf 'genetic nervous system disorder' 'neurometabolic disease' SubClassOf 'disease has feature' some 'metabolic disease' 'neurometabolic disease' SubClassOf 'brain disease' 'neurometabolic disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019054 congenital limb malformation 'congenital limb malformation' SubClassOf 'has modifier' some 'congenital' 'congenital limb malformation' SubClassOf 'material entity' 'congenital limb malformation' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019072 intrahepatic cholestasis 'intrahepatic cholestasis' SubClassOf 'has modifier' some 'rare' 'intrahepatic cholestasis' SubClassOf 'material entity' 'intrahepatic cholestasis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019075 Bosley-Salih-Alorainy syndrome 'Bosley-Salih-Alorainy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Bosley-Salih-Alorainy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020075 genetic non-syndromic obesity 'genetic non-syndromic obesity' EquivalentTo 'inherited obesity' and ('has modifier' some 'has an isolated presentation') 'genetic non-syndromic obesity' SubClassOf 'has modifier' some 'has an isolated presentation' 'genetic non-syndromic obesity' EquivalentTo 'inherited obesity' and ('bearer_of' some 'has an isolated presentation') 'genetic non-syndromic obesity' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0020074 progressive myoclonus epilepsy 'progressive myoclonus epilepsy' SubClassOf 'genetic nervous system disorder' 'progressive myoclonus epilepsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019078 Ritscher-Schinzel syndrome 'Ritscher-Schinzel syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Ritscher-Schinzel syndrome' SubClassOf 'genetic nervous system disorder' 'Ritscher-Schinzel syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0020066 Ehlers-Danlos syndrome 'Ehlers-Danlos syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0020099 inherited sideroblastic anemia 'inherited sideroblastic anemia' EquivalentTo 'sideroblastic anemia' and ('has modifier' some 'inherited') 'inherited sideroblastic anemia' EquivalentTo 'sideroblastic anemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020089 acquired lipodystrophy 'acquired lipodystrophy' EquivalentTo 'lipodystrophy' and ('has modifier' some 'acquired') 'acquired lipodystrophy' EquivalentTo 'lipodystrophy' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020088 familial partial lipodystrophy 'familial partial lipodystrophy' EquivalentTo 'partial lipodystrophy' and ('has modifier' some 'inherited') 'familial partial lipodystrophy' EquivalentTo 'partial lipodystrophy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020087 genetic lipodystrophy 'genetic lipodystrophy' EquivalentTo 'lipodystrophy' and ('has modifier' some 'inherited') 'genetic lipodystrophy' SubClassOf 'genetic skin disease' 'genetic lipodystrophy' EquivalentTo 'lipodystrophy' and ('bearer_of' some 'inherited') http://www.orpha.net/ORDO/Orphanet_2850 Alopecia-intellectual disability syndrome 'Alopecia-intellectual disability syndrome' SubClassOf 'genetic skin disease' 'Alopecia-intellectual disability syndrome' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1001445 Tungiasis 'Tungiasis' SubClassOf 'has modifier' some 'rare' 'Tungiasis' SubClassOf 'bearer_of' some 'rare' 'Tungiasis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001444 Tularemia 'Tularemia' SubClassOf 'has modifier' some 'rare' 'Tularemia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001457 cognitive disorder 'cognitive disorder' SubClassOf 'psychiatric disorder' 'cognitive disorder' SubClassOf 'mental or behavioural disorder' 'cognitive disorder' SubClassOf http://www.w3.org/2002/07/owl#Thing http://www.ebi.ac.uk/efo/EFO_1001454 amnesia 'amnesia' SubClassOf 'cognitive disorder' 'amnesia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002039 http://www.ebi.ac.uk/efo/EFO_1001452 Yellow Nail Syndrome 'Yellow Nail Syndrome' SubClassOf 'syndromic nail anomaly' 'Yellow Nail Syndrome' SubClassOf 'lymphatic malformation' 'Yellow Nail Syndrome' SubClassOf 'skin disease' 'Yellow Nail Syndrome' SubClassOf 'primary lymphedema' http://www.ebi.ac.uk/efo/EFO_1001475 schistosomiasis 'schistosomiasis' SubClassOf 'has modifier' some 'rare' 'schistosomiasis' SubClassOf 'material entity' 'schistosomiasis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001485 acromegaly 'acromegaly' SubClassOf 'genetic nervous system disorder' 'acromegaly' SubClassOf 'genetic infertility' http://www.ebi.ac.uk/efo/EFO_1001496 Autosomal dominant polycystic kidney disease 'Autosomal dominant polycystic kidney disease' SubClassOf 'polycystic kidney disease' 'Autosomal dominant polycystic kidney disease' SubClassOf 'genetic infertility' 'Autosomal dominant polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' 'Autosomal dominant polycystic kidney disease' SubClassOf 'Polycystic Kidney Disease' http://purl.obolibrary.org/obo/MONDO_0009505 lactic aciduria due to D-lactic acid 'lactic aciduria due to D-lactic acid' SubClassOf 'genetic disorder' 'lactic aciduria due to D-lactic acid' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0009501 metabolic myopathy due to lactate transporter defect 'metabolic myopathy due to lactate transporter defect' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001409 Pyomyositis 'Pyomyositis' SubClassOf 'has modifier' some 'rare' 'Pyomyositis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009517 Donohue syndrome 'Donohue syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Donohue syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009515 Norum disease 'Norum disease' SubClassOf 'familial hemolytic anemia' http://purl.obolibrary.org/obo/MONDO_0009514 Laurence-Moon syndrome 'Laurence-Moon syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Laurence-Moon syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0010505 intellectual disability-balding-patella luxation-acromicria syndrome 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'intellectual disability-balding-patella luxation-acromicria syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009529 pyruvate dehydrogenase E3 deficiency 'pyruvate dehydrogenase E3 deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009525 split hand-foot malformation 3 'split hand-foot malformation 3' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'split hand-foot malformation 3' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010519 alpha thalassemia-X-linked intellectual disability syndrome 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'congenital anemia' 'alpha thalassemia-X-linked intellectual disability syndrome' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0010518 Wiskott-Aldrich syndrome 'Wiskott-Aldrich syndrome' SubClassOf 'genetic skin disease' 'Wiskott-Aldrich syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0010523 X-linked reticulate pigmentary disorder 'X-linked reticulate pigmentary disorder' SubClassOf 'genetic skin disease' 'X-linked reticulate pigmentary disorder' SubClassOf 'hereditary disorder of connective tissue' 'X-linked reticulate pigmentary disorder' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0009533 Dahlberg-Borer-Newcomer syndrome 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Dahlberg-Borer-Newcomer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010526 Fabry disease 'Fabry disease' SubClassOf 'syndromic cataract' 'Fabry disease' SubClassOf 'genetic skin disease' 'Fabry disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0009530 lipoid proteinosis 'lipoid proteinosis' SubClassOf 'genetic skin disease' 'lipoid proteinosis' SubClassOf 'has modifier' some 'rare' 'lipoid proteinosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010529 X-linked spinocerebellar ataxia type 3 'X-linked spinocerebellar ataxia type 3' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010520 X-linked Alport syndrome 'X-linked Alport syndrome' SubClassOf 'X-linked deafness' 'X-linked Alport syndrome' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0009547 macrosomia-microphthalmia-cleft palate syndrome 'macrosomia-microphthalmia-cleft palate syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'macrosomia-microphthalmia-cleft palate syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'macrosomia-microphthalmia-cleft palate syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010534 X-linked spinocerebellar ataxia type 4 'X-linked spinocerebellar ataxia type 4' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010537 Borjeson-Forssman-Lehmann syndrome 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'eyelids malposition disorder' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'syndromic genetic obesity' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'congenital nervous system disorder' 'Borjeson-Forssman-Lehmann syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010539 X-linked mandibulofacial dysostosis 'X-linked mandibulofacial dysostosis' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked mandibulofacial dysostosis' SubClassOf 'acrofacial dysostosis' 'X-linked mandibulofacial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'X-linked mandibulofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'X-linked mandibulofacial dysostosis' SubClassOf 'branchial arch or oral-acral syndrome' 'X-linked mandibulofacial dysostosis' SubClassOf 'mandibulofacial dysostosis' 'X-linked mandibulofacial dysostosis' SubClassOf 'congenital nervous system disorder' 'X-linked mandibulofacial dysostosis' SubClassOf 'mandibulofacial dysostosis' 'X-linked mandibulofacial dysostosis' SubClassOf 'X-linked disease' 'X-linked mandibulofacial dysostosis' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome 'contractures-ectodermal dysplasia-cleft lip/palate syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010533 Arts syndrome 'Arts syndrome' SubClassOf 'syndromic genetic hearing loss' 'Arts syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Arts syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Arts syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'Arts syndrome' SubClassOf 'X-linked deafness' 'Arts syndrome' SubClassOf 'inborn disorder of purine metabolism' 'Arts syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009556 malonic aciduria 'malonic aciduria' SubClassOf 'inborn errors of metabolism' 'malonic aciduria' SubClassOf 'inherited organic acidemia' http://purl.obolibrary.org/obo/MONDO_0010545 Nance-Horan syndrome 'Nance-Horan syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Nance-Horan syndrome' SubClassOf 'syndromic cataract' 'Nance-Horan syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Nance-Horan syndrome' SubClassOf 'bearer_of' some 'rare' 'Nance-Horan syndrome' SubClassOf 'material entity' 'Nance-Horan syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0010547 X-linked progressive cerebellar ataxia 'X-linked progressive cerebellar ataxia' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009560 oculotrichoanal syndrome 'oculotrichoanal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'oculotrichoanal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'oculotrichoanal syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010540 bullous dystrophy, macular type 'bullous dystrophy, macular type' SubClassOf 'epidermal disease' 'bullous dystrophy, macular type' SubClassOf 'X-linked syndromic intellectual disability' 'bullous dystrophy, macular type' SubClassOf 'genetic skin disease' 'bullous dystrophy, macular type' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009569 Hennekam-Beemer syndrome 'Hennekam-Beemer syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Hennekam-Beemer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Hennekam-Beemer syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010558 choroideremia-deafness-obesity syndrome 'choroideremia-deafness-obesity syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009564 Marden-Walker syndrome 'Marden-Walker syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Marden-Walker syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009563 maple syrup urine disease 'maple syrup urine disease' SubClassOf 'inherited organic acidemia' http://purl.obolibrary.org/obo/MONDO_0009561 alpha-mannosidosis 'alpha-mannosidosis' SubClassOf 'syndromic cataract' 'alpha-mannosidosis' SubClassOf 'neurometabolic disease' 'alpha-mannosidosis' SubClassOf 'eye disease' 'alpha-mannosidosis' SubClassOf 'disease has feature' some 'metabolic disease' http://purl.obolibrary.org/obo/MONDO_0010554 Abruzzo-Erickson syndrome 'Abruzzo-Erickson syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Abruzzo-Erickson syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Abruzzo-Erickson syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009579 Frank-Ter Haar syndrome 'Frank-Ter Haar syndrome' SubClassOf 'otopalatodigital syndrome spectrum disorder' 'Frank-Ter Haar syndrome' SubClassOf 'filamin-related bone disorder' 'Frank-Ter Haar syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010568 Aicardi syndrome 'Aicardi syndrome' SubClassOf 'genetic nervous system disorder' 'Aicardi syndrome' SubClassOf 'neurodevelopmental disorder' 'Aicardi syndrome' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0009578 neurocutaneous melanocytosis 'neurocutaneous melanocytosis' SubClassOf 'genetic nervous system disorder' 'neurocutaneous melanocytosis' SubClassOf 'inherited skin tumor' http://purl.obolibrary.org/obo/MONDO_0009577 megalocornea-intellectual disability syndrome 'megalocornea-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'megalocornea-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009575 thiamine-responsive megaloblastic anemia syndrome 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'syndromic genetic hearing loss' 'thiamine-responsive megaloblastic anemia syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0009582 Mietens syndrome 'Mietens syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Mietens syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010561 Coffin-Lowry syndrome 'Coffin-Lowry syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Coffin-Lowry syndrome' SubClassOf 'scoliosis' 'Coffin-Lowry syndrome' SubClassOf 'epilepsy' 'Coffin-Lowry syndrome' SubClassOf 'syndromic genetic obesity' 'Coffin-Lowry syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'mesomelic dwarfism-cleft palate-camptodactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010578 deafness dystonia syndrome 'deafness dystonia syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness dystonia syndrome' SubClassOf 'mitochondrial protein import disorder' 'deafness dystonia syndrome' SubClassOf 'eye degenerative disorder' 'deafness dystonia syndrome' SubClassOf 'X-linked deafness' 'deafness dystonia syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'deafness dystonia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009593 spondylometaphyseal dysplasia, Sedaghatian type 'spondylometaphyseal dysplasia, Sedaghatian type' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0010570 craniofrontonasal syndrome 'craniofrontonasal syndrome' SubClassOf 'congenital nervous system disorder' 'craniofrontonasal syndrome' SubClassOf 'acrofacial dysostosis' 'craniofrontonasal syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'craniofrontonasal syndrome' SubClassOf 'frontonasal dysplasia' http://purl.obolibrary.org/obo/MONDO_0010572 occipital horn syndrome 'occipital horn syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'occipital horn syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010575 deafness-hypogonadism syndrome 'deafness-hypogonadism syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-hypogonadism syndrome' SubClassOf 'bearer_of' some 'rare' 'deafness-hypogonadism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010574 syndromic X-linked intellectual disability 5 'syndromic X-linked intellectual disability 5' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 'metaphyseal dysostosis-intellectual disability-conductive deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010580 immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 'immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010592 focal dermal hypoplasia 'focal dermal hypoplasia' SubClassOf 'lens shape anomaly' 'focal dermal hypoplasia' SubClassOf 'X-linked syndromic intellectual disability' 'focal dermal hypoplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'focal dermal hypoplasia' SubClassOf 'hereditary disorder of connective tissue' 'focal dermal hypoplasia' SubClassOf 'mixed dermis disorder' 'focal dermal hypoplasia' SubClassOf 'ectodermal dysplasia syndrome' 'focal dermal hypoplasia' SubClassOf 'bearer_of' some 'rare' 'focal dermal hypoplasia' SubClassOf 'material entity' 'focal dermal hypoplasia' SubClassOf 'developmental defect during embryogenesis' http://www.ebi.ac.uk/efo/EFO_1001101 periventricular leukomalacia 'periventricular leukomalacia' SubClassOf 'has modifier' some 'rare' 'periventricular leukomalacia' SubClassOf 'material entity' 'periventricular leukomalacia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001144 rat-bite fever 'rat-bite fever' SubClassOf 'has modifier' some 'rare' 'rat-bite fever' SubClassOf 'bearer_of' some 'rare' 'rat-bite fever' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001142 pyruvate carboxylase deficiency disease 'pyruvate carboxylase deficiency disease' SubClassOf 'gluconeogenesis disorder' 'pyruvate carboxylase deficiency disease' SubClassOf 'gluconeogenesis disorder' http://purl.obolibrary.org/obo/MONDO_0009406 hypertrichotic osteochondrodysplasia Cantu type 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hypertrichotic osteochondrodysplasia Cantu type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009405 cervical hypertrichosis-peripheral neuropathy syndrome 'cervical hypertrichosis-peripheral neuropathy syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009404 hypertelorism, microtia, facial clefting syndrome 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'hypertelorism, microtia, facial clefting syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009402 acrofrontofacionasal dysostosis 2 'acrofrontofacionasal dysostosis 2' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'acrofrontofacionasal dysostosis 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009401 hyperprolinemia type 2 'hyperprolinemia type 2' SubClassOf 'cerebral organic aciduria' 'hyperprolinemia type 2' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009400 hyperprolinemia type 1 'hyperprolinemia type 1' SubClassOf 'cerebral organic aciduria' 'hyperprolinemia type 1' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/HP_0003546 Exercise intolerance 'Exercise intolerance' SubClassOf 'Constitutional symptom' http://purl.obolibrary.org/obo/MONDO_0009417 hypergonadotropic hypogonadism-cataract syndrome 'hypergonadotropic hypogonadism-cataract syndrome' SubClassOf 'syndromic cataract' 'hypergonadotropic hypogonadism-cataract syndrome' SubClassOf 'bearer_of' some 'rare' 'hypergonadotropic hypogonadism-cataract syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009416 hypoinsulinemic hypoglycemia and body hemihypertrophy 'hypoinsulinemic hypoglycemia and body hemihypertrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009414 glycogen storage disorder due to hepatic glycogen synthase deficiency 'glycogen storage disorder due to hepatic glycogen synthase deficiency' SubClassOf 'glycogen storage disease' 'glycogen storage disorder due to hepatic glycogen synthase deficiency' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010403 albinism-hearing loss syndrome 'albinism-hearing loss syndrome' SubClassOf 'syndromic genetic hearing loss' 'albinism-hearing loss syndrome' SubClassOf 'genetic skin disease' 'albinism-hearing loss syndrome' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0010408 syndactyly-telecanthus-anogenital and renal malformations syndrome 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'syndactyly-telecanthus-anogenital and renal malformations syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009426 hypoparathyroidism-retardation-dysmorphism syndrome 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'hypoparathyroidism-retardation-dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009425 hypomandibular faciocranial dysostosis 'hypomandibular faciocranial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hypomandibular faciocranial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hypomandibular faciocranial dysostosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009420 primary hypergonadotropic hypogonadism-partial alopecia syndrome 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'has modifier' some 'rare' 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'bearer_of' some 'rare' 'primary hypergonadotropic hypogonadism-partial alopecia syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0022410 retinal ciliopathy 'retinal ciliopathy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009437 Bamforth-Lazarus syndrome 'Bamforth-Lazarus syndrome' SubClassOf 'genetic otorhinolaryngologic disease' http://purl.obolibrary.org/obo/MONDO_0010428 chromosome Xp11.23-p11.22 duplication syndrome 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome Xp11.23-p11.22 duplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009448 iminoglycinuria 'iminoglycinuria' SubClassOf 'disorder of neutral amino acid transport' 'iminoglycinuria' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009446 ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'ichthyosis-intellectual disability-dwarfism-renal impairment syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 'ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010437 severe X-linked mitochondrial encephalomyopathy 'severe X-linked mitochondrial encephalomyopathy' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009458 Schimke immuno-osseous dysplasia 'Schimke immuno-osseous dysplasia' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0010446 X-linked cone dysfunction syndrome with myopia 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'syndromic myopia' 'X-linked cone dysfunction syndrome with myopia' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 'moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'congenital nervous system disorder' 'moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009452 Vici syndrome 'Vici syndrome' SubClassOf 'genetic skin disease' 'Vici syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Vici syndrome' SubClassOf 'congenital nervous system disorder' 'Vici syndrome' SubClassOf 'genetic nervous system disorder' 'Vici syndrome' SubClassOf 'syndromic cataract' 'Vici syndrome' SubClassOf 'syndromic disease' 'Vici syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010441 CK syndrome 'CK syndrome' SubClassOf 'genetic nervous system disorder' 'CK syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009467 natal teeth-intestinal pseudoobstruction-patent ductus syndrome 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'has modifier' some 'rare' 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'material entity' 'natal teeth-intestinal pseudoobstruction-patent ductus syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009479 Johanson-Blizzard syndrome 'Johanson-Blizzard syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Johanson-Blizzard syndrome' SubClassOf 'syndromic genetic hearing loss' 'Johanson-Blizzard syndrome' SubClassOf 'hearing loss' 'Johanson-Blizzard syndrome' SubClassOf 'inherited auditory system disease' http://purl.obolibrary.org/obo/MONDO_0009473 isotretinoin-like syndrome 'isotretinoin-like syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'isotretinoin-like syndrome' SubClassOf 'bearer_of' some 'rare' 'isotretinoin-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010463 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked dominant chondrodysplasia, Chassaing-Lacombe type' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009480 Joubert syndrome with oculorenal defect 'Joubert syndrome with oculorenal defect' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0010464 X-linked cerebral-cerebellar-coloboma syndrome syndrome 'X-linked cerebral-cerebellar-coloboma syndrome syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 'multiple congenital anomalies-hypotonia-seizures syndrome 2' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009485 oculocerebrofacial syndrome, Kaufman type 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'oculocerebrofacial syndrome, Kaufman type' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010472 developmental and epileptic encephalopathy, 36 'developmental and epileptic encephalopathy, 36' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009493 Richards-Rundle syndrome 'Richards-Rundle syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010478 SLC35A2-CDG 'SLC35A2-CDG' SubClassOf 'neurometabolic disease' 'SLC35A2-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010477 blepharophimosis - intellectual disability syndrome, MKB type 'blepharophimosis - intellectual disability syndrome, MKB type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_1001039 Melkersson-Rosenthal syndrome 'Melkersson-Rosenthal syndrome' SubClassOf 'has modifier' some 'rare' 'Melkersson-Rosenthal syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009499 Krabbe disease 'Krabbe disease' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009495 Keutel syndrome 'Keutel syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Keutel syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010498 MEND syndrome 'MEND syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010490 SSR4-CDG 'SSR4-CDG' SubClassOf 'congenital nervous system disorder' 'SSR4-CDG' SubClassOf 'neurometabolic disease' 'SSR4-CDG' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_1001063 noma 'noma' SubClassOf 'has modifier' some 'rare' 'noma' SubClassOf 'material entity' 'noma' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001060 neovascular glaucoma 'neovascular glaucoma' SubClassOf 'glaucoma' 'neovascular glaucoma' SubClassOf 'has modifier' some 'rare' 'neovascular glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005041 'neovascular glaucoma' SubClassOf 'material entity' 'neovascular glaucoma' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001210 tethered spinal cord syndrome 'tethered spinal cord syndrome' SubClassOf 'genetic nervous system disorder' 'tethered spinal cord syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000904 complex cortical dysplasia with other brain malformations 'complex cortical dysplasia with other brain malformations' SubClassOf 'genetic nervous system disorder' 'complex cortical dysplasia with other brain malformations' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000902 agenesis of the corpus callosum with peripheral neuropathy 'agenesis of the corpus callosum with peripheral neuropathy' SubClassOf 'hereditary motor neuron disease' http://purl.obolibrary.org/obo/MONDO_0012907 blindness - scoliosis - arachnodactyly syndrome 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'has modifier' some 'rare' 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'bearer_of' some 'rare' 'blindness - scoliosis - arachnodactyly syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012901 inherited prekallikrein deficiency 'inherited prekallikrein deficiency' EquivalentTo 'prekallikrein deficiency' and ('has modifier' some 'inherited') 'inherited prekallikrein deficiency' EquivalentTo 'prekallikrein deficiency' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0012912 pseudopseudohypoparathyroidism 'pseudopseudohypoparathyroidism' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0012911 pseudohypoparathyroidism type 1C 'pseudohypoparathyroidism type 1C' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0012929 Compton-North congenital myopathy 'Compton-North congenital myopathy' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_2053 Freeman-Sheldon syndrome 'Freeman-Sheldon syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Freeman-Sheldon syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012948 chromosome 6pter-p24 deletion syndrome 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 6pter-p24 deletion syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009306 combined immunodeficiency with skin granulomas 'combined immunodeficiency with skin granulomas' SubClassOf 'genetic skin disease' 'combined immunodeficiency with skin granulomas' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0009319 pantothenate kinase-associated neurodegeneration 'pantothenate kinase-associated neurodegeneration' SubClassOf 'phosphorus metabolism disease' http://purl.obolibrary.org/obo/MONDO_0012967 hemolytic anemia due to adenylate kinase deficiency 'hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'familial hemolytic anemia' 'hemolytic anemia due to adenylate kinase deficiency' SubClassOf 'normocytic anemia' http://purl.obolibrary.org/obo/MONDO_0009313 Grubben-de Cock-Borghgraef syndrome 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'has modifier' some 'rare' 'Grubben-de Cock-Borghgraef syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010306 X-linked intellectual disability, Cabezas type 'X-linked intellectual disability, Cabezas type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010305 creatine transporter deficiency 'creatine transporter deficiency' SubClassOf 'neurometabolic disease' 'creatine transporter deficiency' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0000995 familial periodic paralysis 'familial periodic paralysis' EquivalentTo 'periodic paralysis' and ('has modifier' some 'inherited') 'familial periodic paralysis' EquivalentTo 'periodic paralysis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0009326 congenital heart block 'congenital heart block' SubClassOf 'has modifier' some 'congenital' 'congenital heart block' SubClassOf 'has modifier' some 'rare' 'congenital heart block' SubClassOf 'bearer_of' some 'congenital' 'congenital heart block' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009324 Hartnup disease 'Hartnup disease' SubClassOf 'neurometabolic disease' 'Hartnup disease' SubClassOf 'hereditary photodermatosis' 'Hartnup disease' SubClassOf 'cerebral organic aciduria' 'Hartnup disease' SubClassOf 'inherited amino acid metabolic disorder' 'Hartnup disease' SubClassOf 'nephropathy secondary to a storage or other metabolic disease' 'Hartnup disease' SubClassOf 'disorder of neutral amino acid transport' 'Hartnup disease' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009339 congenital bile acid synthesis defect 2 'congenital bile acid synthesis defect 2' SubClassOf 'has modifier' some 'congenital' 'congenital bile acid synthesis defect 2' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010328 alpha-thalassemia-myelodysplastic syndrome 'alpha-thalassemia-myelodysplastic syndrome' SubClassOf 'inherited hemoglobinopathy' http://purl.obolibrary.org/obo/MONDO_0010327 HSD10 mitochondrial disease 'HSD10 mitochondrial disease' SubClassOf 'neurometabolic disease' 'HSD10 mitochondrial disease' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009332 congenital hematological disorder 'congenital hematological disorder' SubClassOf 'has modifier' some 'congenital' 'congenital hematological disorder' EquivalentTo 'hematologic disease' and ('has modifier' some 'congenital') 'congenital hematological disorder' SubClassOf 'bearer_of' some 'congenital' 'congenital hematological disorder' EquivalentTo 'hematologic disease' and ('bearer_of' some 'congenital') http://purl.obolibrary.org/obo/MONDO_0009340 non-spherocytic hemolytic anemia due to hexokinase deficiency 'non-spherocytic hemolytic anemia due to hexokinase deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0012982 episodic ataxia type 6 'episodic ataxia type 6' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0012980 endocrine-cerebro-osteodysplasia syndrome 'endocrine-cerebro-osteodysplasia syndrome' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0012986 bilateral parasagittal parieto-occipital polymicrogyria 'bilateral parasagittal parieto-occipital polymicrogyria' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010323 Atkin-Flaitz syndrome 'Atkin-Flaitz syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Atkin-Flaitz syndrome' SubClassOf 'congenital nervous system disorder' 'Atkin-Flaitz syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Atkin-Flaitz syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Atkin-Flaitz syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0012984 PHARC syndrome 'PHARC syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'PHARC syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010336 orofaciodigital syndrome VIII 'orofaciodigital syndrome VIII' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009346 histidinuria due to a renal tubular defect 'histidinuria due to a renal tubular defect' SubClassOf 'inborn disorder of histidine metabolism' 'histidinuria due to a renal tubular defect' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf 'monogenic epilepsy' 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf 'syndromic disease' 'X-linked epilepsy-learning disabilities-behavior disorders syndrome' SubClassOf 'X-linked disease' http://purl.obolibrary.org/obo/MONDO_0009345 histidinemia 'histidinemia' SubClassOf 'inborn disorder of histidine metabolism' 'histidinemia' SubClassOf 'histidine metabolism disease' http://purl.obolibrary.org/obo/MONDO_0012999 guanidinoacetate methyltransferase deficiency 'guanidinoacetate methyltransferase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009344 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 'Hirschsprung disease-nail hypoplasia-dysmorphism syndrome' SubClassOf 'syndromic nail anomaly' http://purl.obolibrary.org/obo/MONDO_0009342 Hirschsprung disease-hearing loss-polydactyly syndrome 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'congenital nervous system disorder' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'syndromic genetic hearing loss' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Hirschsprung disease-hearing loss-polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009341 Mowat-Wilson syndrome 'Mowat-Wilson syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Mowat-Wilson syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009351 homocarnosinosis 'homocarnosinosis' SubClassOf 'inborn disorder of peptide metabolism' 'homocarnosinosis' SubClassOf 'inborn disorder of peptide metabolism' http://purl.obolibrary.org/obo/MONDO_0009350 Holzgreve-Wagner-Rehder syndrome 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Holzgreve-Wagner-Rehder syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010333 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'developmental defect of the eye' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'congenital nervous system disorder' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0012996 AGAT deficiency 'AGAT deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010332 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 'X-linked intellectual disability-cubitus valgus-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency 'dopa-responsive dystonia due to sepiapterin reductase deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 'severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009359 multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009352 classic homocystinuria 'classic homocystinuria' SubClassOf 'cerebral organic aciduria' 'classic homocystinuria' SubClassOf 'neurometabolic disease' 'classic homocystinuria' SubClassOf 'lens position anomaly' 'classic homocystinuria' SubClassOf 'lens disease' 'classic homocystinuria' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009367 McKusick-Kaufman syndrome 'McKusick-Kaufman syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'McKusick-Kaufman syndrome' SubClassOf 'bearer_of' some 'rare' 'McKusick-Kaufman syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009363 hydrocephaly-tall stature-joint laxity syndrome 'hydrocephaly-tall stature-joint laxity syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'hydrocephaly-tall stature-joint laxity syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'hydrocephaly-tall stature-joint laxity syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009372 encephalopathy due to hydroxykynureninuria 'encephalopathy due to hydroxykynureninuria' SubClassOf 'cerebral organic aciduria' 'encephalopathy due to hydroxykynureninuria' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010353 deafness-intellectual disability, Martin-Probst type syndrome 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'congenital nervous system disorder' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'X-linked deafness' 'deafness-intellectual disability, Martin-Probst type syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010355 syndromic X-linked intellectual disability Claes-Jensen type 'syndromic X-linked intellectual disability Claes-Jensen type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010354 Allan-Herndon-Dudley syndrome 'Allan-Herndon-Dudley syndrome' SubClassOf 'complex hereditary spastic paraplegia' 'Allan-Herndon-Dudley syndrome' SubClassOf 'pure or complex X-linked spastic paraplegia' 'Allan-Herndon-Dudley syndrome' SubClassOf 'syndromic hypothyroidism' 'Allan-Herndon-Dudley syndrome' SubClassOf 'congenital nervous system disorder' 'Allan-Herndon-Dudley syndrome' SubClassOf 'Pelizaeus-Merzbacher-like disease' 'Allan-Herndon-Dudley syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Allan-Herndon-Dudley syndrome' SubClassOf 'peripheral hypothyroidism' 'Allan-Herndon-Dudley syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009379 Rotor syndrome 'Rotor syndrome' SubClassOf 'has modifier' some 'rare' 'Rotor syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001158 retinopathy of prematurity 'retinopathy of prematurity' SubClassOf 'has modifier' some 'rare' 'retinopathy of prematurity' SubClassOf 'material entity' 'retinopathy of prematurity' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009377 hyperammonemia due to N-acetylglutamate synthase deficiency 'hyperammonemia due to N-acetylglutamate synthase deficiency' SubClassOf 'urea cycle disorder' 'hyperammonemia due to N-acetylglutamate synthase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800153 http://purl.obolibrary.org/obo/MONDO_0009384 Leydig cell hypoplasia, type 1 'Leydig cell hypoplasia, type 1' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0010362 glycogen storage disease IXd 'glycogen storage disease IXd' SubClassOf 'glycogen storage disease' 'glycogen storage disease IXd' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0009383 transient familial neonatal hyperbilirubinemia 'transient familial neonatal hyperbilirubinemia' SubClassOf 'has modifier' some 'rare' 'transient familial neonatal hyperbilirubinemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009380 Dubin-Johnson syndrome 'Dubin-Johnson syndrome' SubClassOf 'has modifier' some 'rare' 'Dubin-Johnson syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001162 rickettsiosis 'rickettsiosis' SubClassOf 'has modifier' some 'rare' 'rickettsiosis' SubClassOf 'bearer_of' some 'rare' 'rickettsiosis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_1001169 scurvy 'scurvy' SubClassOf 'disorder of organic acid metabolism' 'scurvy' SubClassOf 'carbohydrate metabolism disease' http://purl.obolibrary.org/obo/MONDO_0009388 hyperlysinemia 'hyperlysinemia' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0009393 ornithine translocase deficiency 'ornithine translocase deficiency' SubClassOf 'urea cycle disorder' 'ornithine translocase deficiency' SubClassOf 'infectious disease' 'ornithine translocase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800153 http://purl.obolibrary.org/obo/MONDO_0010379 Brunner syndrome 'Brunner syndrome' SubClassOf 'cerebral organic aciduria' 'Brunner syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010371 Aland island eye disease 'Aland island eye disease' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010383 fragile X syndrome 'fragile X syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'fragile X syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'fragile X syndrome' SubClassOf 'syndromic genetic obesity' 'fragile X syndrome' SubClassOf 'congenital nervous system disorder' 'fragile X syndrome' SubClassOf 'neuro-ophthalmological disease' 'fragile X syndrome' SubClassOf 'epilepsy' 'fragile X syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'fragile X syndrome' SubClassOf 'motor stereotypies' 'fragile X syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001186 Sneddon syndrome 'Sneddon syndrome' SubClassOf 'genetic central nervous system and retinal vascular disease' 'Sneddon syndrome' SubClassOf 'genetic skin disease' 'Sneddon syndrome' SubClassOf 'bearer_of' some 'rare' 'Sneddon syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010397 severe neonatal-onset encephalopathy with microcephaly 'severe neonatal-onset encephalopathy with microcephaly' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010390 ocular albinism with late-onset sensorineural deafness 'ocular albinism with late-onset sensorineural deafness' SubClassOf 'syndromic genetic hearing loss' 'ocular albinism with late-onset sensorineural deafness' SubClassOf 'developmental anomaly of metabolic origin' http://purl.obolibrary.org/obo/MONDO_0010392 glycogen storage disease due to phosphoglycerate kinase 1 deficiency 'glycogen storage disease due to phosphoglycerate kinase 1 deficiency' SubClassOf 'disorder of glycolysis' http://www.ebi.ac.uk/efo/EFO_1001194 subacute thyroiditis 'subacute thyroiditis' SubClassOf 'thyroiditis' 'subacute thyroiditis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0001949 http://www.ebi.ac.uk/efo/EFO_1001193 subacute bacterial endocarditis 'subacute bacterial endocarditis' SubClassOf 'acute disease' http://www.ebi.ac.uk/efo/EFO_1001199 subvalvular aortic stenosis 'subvalvular aortic stenosis' SubClassOf 'aortic stenosis' 'subvalvular aortic stenosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0042981 'subvalvular aortic stenosis' SubClassOf 'aortic stenosis' http://purl.obolibrary.org/obo/MONDO_0022394 cervical intraepithelial neoplasia 'cervical intraepithelial neoplasia' SubClassOf 'has modifier' some 'rare' 'cervical intraepithelial neoplasia' SubClassOf 'material entity' 'cervical intraepithelial neoplasia' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_357027 Familial retinoblastoma 'Familial retinoblastoma' SubClassOf 'genetic nervous system disorder' http://www.orpha.net/ORDO/Orphanet_113 Bazex-Dupré-Christol syndrome 'Bazex-Dupré-Christol syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000819 anencephaly 'anencephaly' SubClassOf 'genetic nervous system disorder' 'anencephaly' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012803 diarrhea-vomiting due to trehalase deficiency 'diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disorder of carbohydrate absorption and transport' 'diarrhea-vomiting due to trehalase deficiency' SubClassOf 'disorder of carbohydrate absorption and transport' http://purl.obolibrary.org/obo/MONDO_0000824 congenital diarrhea 'congenital diarrhea' SubClassOf 'has modifier' some 'congenital' 'congenital diarrhea' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0012815 Coats plus syndrome 'Coats plus syndrome' SubClassOf 'cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0000845 fibrous dysplasia 'fibrous dysplasia' SubClassOf 'has modifier' some 'acquired' 'fibrous dysplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0035682 'fibrous dysplasia' SubClassOf 'bearer_of' some 'acquired' http://www.orpha.net/ORDO/Orphanet_2484 Osteodysplasty, Melnick-Needles type 'Osteodysplasty, Melnick-Needles type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009209 autosomal recessive faciodigitogenital syndrome 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'autosomal recessive faciodigitogenital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009206 factor V and factor VIII, combined deficiency of, type 1 'factor V and factor VIII, combined deficiency of, type 1' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0009205 faciocardiorenal syndrome 'faciocardiorenal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0009204 lethal faciocardiomelic dysplasia 'lethal faciocardiomelic dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'lethal faciocardiomelic dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0012856 Birk-Barel syndrome 'Birk-Barel syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0012853 Fontaine progeroid syndrome 'Fontaine progeroid syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fontaine progeroid syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012854 bilateral microtia-deafness-cleft palate syndrome 'bilateral microtia-deafness-cleft palate syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'bilateral microtia-deafness-cleft palate syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009218 Farber lipogranulomatosis 'Farber lipogranulomatosis' SubClassOf 'neurometabolic disease' 'Farber lipogranulomatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009210 congenital factor V deficiency 'congenital factor V deficiency' EquivalentTo 'factor V deficiency' and ('has modifier' some 'inherited') 'congenital factor V deficiency' EquivalentTo 'factor V deficiency' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010200 Wilson disease 'Wilson disease' SubClassOf 'neurometabolic disease' 'Wilson disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0000890 Zika virus congenital syndrome 'Zika virus congenital syndrome' SubClassOf 'has modifier' some 'congenital' 'Zika virus congenital syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009228 gingival fibromatosis-facial dysmorphism syndrome 'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'gingival fibromatosis-facial dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009234 congenital high-molecular-weight kininogen deficiency 'congenital high-molecular-weight kininogen deficiency' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0009233 Fibulo-ulnar hypoplasia-renal anomalies syndrome 'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fibulo-ulnar hypoplasia-renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009241 fountain syndrome 'fountain syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'fountain syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010221 CHIME syndrome 'CHIME syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'CHIME syndrome' SubClassOf 'neurometabolic disease' 'CHIME syndrome' SubClassOf 'syndromic genetic hearing loss' 'CHIME syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010220 Young syndrome 'Young syndrome' SubClassOf 'has modifier' some 'rare' 'Young syndrome' SubClassOf 'bearer_of' some 'rare' 'Young syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0012885 SRD5A3-CDG 'SRD5A3-CDG' SubClassOf 'neurometabolic disease' 'SRD5A3-CDG' SubClassOf 'genetic skin disease' 'SRD5A3-CDG' SubClassOf 'congenital nervous system disorder' 'SRD5A3-CDG' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0009249 hereditary fructose intolerance 'hereditary fructose intolerance' SubClassOf 'disorder of carbohydrate absorption and transport' 'hereditary fructose intolerance' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800152 http://purl.obolibrary.org/obo/MONDO_0010237 X-linked intellectual disability-plagiocephaly syndrome 'X-linked intellectual disability-plagiocephaly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009247 frontofacionasal dysplasia 'frontofacionasal dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'frontofacionasal dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010239 lissencephaly type 1 due to doublecortin gene mutation 'lissencephaly type 1 due to doublecortin gene mutation' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009242 brittle cornea syndrome 'brittle cornea syndrome' SubClassOf 'has modifier' some 'rare' 'brittle cornea syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009252 essential fructosuria 'essential fructosuria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800152 http://purl.obolibrary.org/obo/MONDO_0009251 fructose-1,6-bisphosphatase deficiency 'fructose-1,6-bisphosphatase deficiency' SubClassOf 'gluconeogenesis disorder' 'fructose-1,6-bisphosphatase deficiency' SubClassOf 'disorder of fructose metabolism' 'fructose-1,6-bisphosphatase deficiency' SubClassOf 'gluconeogenesis disorder' http://purl.obolibrary.org/obo/MONDO_0012892 bone fragility with contractures, arterial rupture, and deafness 'bone fragility with contractures, arterial rupture, and deafness' SubClassOf 'syndromic genetic hearing loss' 'bone fragility with contractures, arterial rupture, and deafness' SubClassOf 'developmental defect during embryogenesis' http://purl.obolibrary.org/obo/MONDO_0012897 congenital factor XI deficiency 'congenital factor XI deficiency' EquivalentTo 'factor XI deficiency' and ('has modifier' some 'inherited') 'congenital factor XI deficiency' EquivalentTo 'factor XI deficiency' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0009259 gamma-glutamylcysteine synthetase deficiency 'gamma-glutamylcysteine synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'gamma-glutamylcysteine synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0009258 classic galactosemia 'classic galactosemia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800152 http://purl.obolibrary.org/obo/MONDO_0009255 galactokinase deficiency 'galactokinase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800152 http://purl.obolibrary.org/obo/MONDO_0009263 gapo syndrome 'gapo syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'gapo syndrome' SubClassOf 'genetic nervous system disorder' 'gapo syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0009267 Gaucher disease type III 'Gaucher disease type III' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009266 Gaucher disease type II 'Gaucher disease type II' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009270 genito-palato-cardiac syndrome 'genito-palato-cardiac syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'genito-palato-cardiac syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'genito-palato-cardiac syndrome' SubClassOf 'bearer_of' some 'rare' 'genito-palato-cardiac syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010258 MEHMO syndrome 'MEHMO syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'MEHMO syndrome' SubClassOf 'syndromic genetic obesity' 'MEHMO syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0034204 syndromic congenital sodium diarrhea 'syndromic congenital sodium diarrhea' EquivalentTo 'congenital sodium diarrhea' and ('has modifier' some 'has a syndromic presentation') 'syndromic congenital sodium diarrhea' EquivalentTo 'congenital sodium diarrhea' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0009275 neonatal hemochromatosis 'neonatal hemochromatosis' SubClassOf 'has modifier' some 'rare' 'neonatal hemochromatosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009285 gamma-glutamyl transpeptidase deficiency 'gamma-glutamyl transpeptidase deficiency' SubClassOf 'inborn disorder of the gamma-glutamyl cycle' 'gamma-glutamyl transpeptidase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0010263 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'congenital nervous system disorder' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'partial deletion of the long arm of chromosome X' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'syndromic disease' 'Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009283 glutaric acidemia type 3 'glutaric acidemia type 3' SubClassOf 'inborn errors of metabolism' 'glutaric acidemia type 3' SubClassOf 'inherited organic acidemia' http://purl.obolibrary.org/obo/MONDO_0010265 Simpson-Golabi-Behmel syndrome type 2 'Simpson-Golabi-Behmel syndrome type 2' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009281 glutaryl-CoA dehydrogenase deficiency 'glutaryl-CoA dehydrogenase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010269 Coats disease 'Coats disease' SubClassOf 'genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0010268 X-linked lissencephaly with abnormal genitalia 'X-linked lissencephaly with abnormal genitalia' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010261 microphthalmia, syndromic 2 'microphthalmia, syndromic 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'microphthalmia, syndromic 2' SubClassOf 'microphthalmia, Lenz type' 'microphthalmia, syndromic 2' SubClassOf 'syndromic microphthalmia' http://purl.obolibrary.org/obo/MONDO_0009295 glycogen storage disease VII 'glycogen storage disease VII' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0009294 glycogen storage disease VI 'glycogen storage disease VI' SubClassOf 'glycogen storage disease' 'glycogen storage disease VI' SubClassOf 'has modifier' some 'rare' 'glycogen storage disease VI' SubClassOf 'glycogen storage disease' 'glycogen storage disease VI' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009293 glycogen storage disease V 'glycogen storage disease V' SubClassOf 'glycogen storage disease' 'glycogen storage disease V' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010275 spondyloepimetaphyseal dysplasia, Bieganski type 'spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Bieganski type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0010278 Christianson syndrome 'Christianson syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Christianson syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Christianson syndrome' SubClassOf 'X-linked cerebellar ataxia' 'Christianson syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Christianson syndrome' SubClassOf 'congenital nervous system disorder' 'Christianson syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0009291 glycogen storage disease III 'glycogen storage disease III' SubClassOf 'glycogen storage disease' 'glycogen storage disease III' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0010277 syndromic X-linked intellectual disability Shashi type 'syndromic X-linked intellectual disability Shashi type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010279 terminal osseous dysplasia-pigmentary defects syndrome 'terminal osseous dysplasia-pigmentary defects syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0010270 syndromic X-linked intellectual disability 7 'syndromic X-linked intellectual disability 7' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009299 46 XX gonadal dysgenesis '46 XX gonadal dysgenesis' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0010285 syndromic X-linked intellectual disability Abidi type 'syndromic X-linked intellectual disability Abidi type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010284 Armfield syndrome 'Armfield syndrome' SubClassOf 'congenital nervous system disorder' 'Armfield syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'Armfield syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Armfield syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'Armfield syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010286 syndromic X-linked intellectual disability Siderius type 'syndromic X-linked intellectual disability Siderius type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010288 adrenomyodystrophy 'adrenomyodystrophy' SubClassOf 'has modifier' some 'rare' 'adrenomyodystrophy' SubClassOf 'bearer_of' some 'rare' 'adrenomyodystrophy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0010283 syndromic X-linked intellectual disability Lubs type 'syndromic X-linked intellectual disability Lubs type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0010088 mucosulfatidosis 'mucosulfatidosis' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010080 familial infantile bilateral striatal necrosis 'familial infantile bilateral striatal necrosis' EquivalentTo 'infantile bilateral striatal necrosis' and ('has modifier' some 'inherited') 'familial infantile bilateral striatal necrosis' EquivalentTo 'infantile bilateral striatal necrosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010083 succinic semialdehyde dehydrogenase deficiency 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'cerebral organic aciduria' 'succinic semialdehyde dehydrogenase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010092 Filippi syndrome 'Filippi syndrome' SubClassOf 'genetic nervous system disorder' 'Filippi syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_1001006 Klinefelter's syndrome 'Klinefelter's syndrome' SubClassOf 'genetic nervous system disorder' 'Klinefelter's syndrome' SubClassOf 'genetic infertility' http://www.ebi.ac.uk/efo/EFO_1001010 Landau-Kleffner syndrome 'Landau-Kleffner syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0000700 familial hemiplegic migraine 'familial hemiplegic migraine' EquivalentTo 'familial or sporadic hemiplegic migraine' and ('has modifier' some 'inherited') 'familial hemiplegic migraine' SubClassOf 'genetic central nervous system and retinal vascular disease' 'familial hemiplegic migraine' EquivalentTo 'familial or sporadic hemiplegic migraine' and ('bearer_of' some 'inherited') 'familial hemiplegic migraine' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0000722 non-syndromic synpolydactyly 'non-syndromic synpolydactyly' EquivalentTo 'synpolydactyly' and ('has modifier' some 'has an isolated presentation') 'non-syndromic synpolydactyly' EquivalentTo 'synpolydactyly' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0000726 idiopathic scoliosis 'idiopathic scoliosis' EquivalentTo 'scoliosis' and ('has modifier' some 'idiopathic') 'idiopathic scoliosis' EquivalentTo 'scoliosis' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0012719 encephalopathy due to prosaposin deficiency 'encephalopathy due to prosaposin deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0000736 dyschromatosis universalis hereditaria 'dyschromatosis universalis hereditaria' SubClassOf 'genetic skin disease' 'dyschromatosis universalis hereditaria' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012725 lipoprotein glomerulopathy 'lipoprotein glomerulopathy' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0000764 epithelial-stromal TGFBI dystrophy 'epithelial-stromal TGFBI dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0012747 glycogen storage disease due to aldolase A deficiency 'glycogen storage disease due to aldolase A deficiency' SubClassOf 'glycogen storage disease' 'glycogen storage disease due to aldolase A deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0009109 lysinuric protein intolerance 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid absorption and transport' 'lysinuric protein intolerance' SubClassOf 'inherited amino acid metabolic disorder' 'lysinuric protein intolerance' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009108 hyperdibasic aminoaciduria type 1 'hyperdibasic aminoaciduria type 1' SubClassOf 'inborn disorder of amino acid absorption and transport' 'hyperdibasic aminoaciduria type 1' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0009104 Donnai-Barrow syndrome 'Donnai-Barrow syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Donnai-Barrow syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009115 congenital lactase deficiency 'congenital lactase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital lactase deficiency' SubClassOf 'disorder of carbohydrate absorption and transport' 'congenital lactase deficiency' SubClassOf 'disorder of carbohydrate absorption and transport' 'congenital lactase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009114 congenital sucrase-isomaltase deficiency 'congenital sucrase-isomaltase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate absorption and transport' 'congenital sucrase-isomaltase deficiency' SubClassOf 'disorder of carbohydrate absorption and transport' 'congenital sucrase-isomaltase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0009110 dicarboxylic aminoaciduria 'dicarboxylic aminoaciduria' SubClassOf 'inherited amino acid metabolic disorder' 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid absorption and transport' 'dicarboxylic aminoaciduria' SubClassOf 'inborn disorder of amino acid absorption and transport' http://purl.obolibrary.org/obo/MONDO_0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome' SubClassOf 'has modifier' some 'rare' 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome' SubClassOf 'material entity' 'non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009124 Dubowitz syndrome 'Dubowitz syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Dubowitz syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009123 dopamine beta-hydroxylase deficiency 'dopamine beta-hydroxylase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009121 von Voss-Cherstvoy syndrome 'von Voss-Cherstvoy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'von Voss-Cherstvoy syndrome' SubClassOf 'bearer_of' some 'rare' 'von Voss-Cherstvoy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009131 Riley-Day syndrome 'Riley-Day syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0010110 tetraamelia-multiple malformations syndrome 'tetraamelia-multiple malformations syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'tetraamelia-multiple malformations syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012774 chromosome 15q13.3 microdeletion syndrome 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 15q13.3 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010128 thyrocerebrorenal syndrome 'thyrocerebrorenal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'thyrocerebrorenal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010127 thymoma, familial 'thymoma, familial' EquivalentTo 'Thymoma' and ('has modifier' some 'inherited') 'thymoma, familial' EquivalentTo 'Thymoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010129 thymic-renal-anal-lung dysplasia 'thymic-renal-anal-lung dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'thymic-renal-anal-lung dysplasia' SubClassOf 'syndromic renal or urinary tract malformation' 'thymic-renal-anal-lung dysplasia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0012783 RFT1-CDG 'RFT1-CDG' SubClassOf 'neurometabolic disease' 'RFT1-CDG' SubClassOf 'congenital nervous system disorder' 'RFT1-CDG' SubClassOf 'syndromic genetic hearing loss' 'RFT1-CDG' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010122 congenital thrombotic thrombocytopenic purpura 'congenital thrombotic thrombocytopenic purpura' EquivalentTo 'thrombotic thrombocytopenic purpura' and ('has modifier' some 'inherited') 'congenital thrombotic thrombocytopenic purpura' EquivalentTo 'thrombotic thrombocytopenic purpura' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0012786 juvenile cataract-microcornea-renal glucosuria syndrome 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'autosomal dominant cataract' 'juvenile cataract-microcornea-renal glucosuria syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0009146 ectodermal dysplasia-sensorineural deafness syndrome 'ectodermal dysplasia-sensorineural deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0012794 ANE syndrome 'ANE syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010134 Pendred syndrome 'Pendred syndrome' SubClassOf 'syndromic genetic hearing loss' 'Pendred syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0010142 hypothyroidism due to TSH receptor mutations 'hypothyroidism due to TSH receptor mutations' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0009162 Ellis-van Creveld syndrome 'Ellis-van Creveld syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Ellis-van Creveld syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0010140 isolated thyrotropin-releasing hormone deficiency 'isolated thyrotropin-releasing hormone deficiency' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0009168 Fowler syndrome 'Fowler syndrome' SubClassOf 'genetic nervous system disorder' 'Fowler syndrome' SubClassOf 'bearer_of' some 'rare' 'Fowler syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009173 congenital enteropathy due to enteropeptidase deficiency 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'genetic disorder' 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'material entity' 'congenital enteropathy due to enteropeptidase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010154 trigonocephaly-bifid nose-acral anomalies syndrome 'trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf 'bearer_of' some 'rare' 'trigonocephaly-bifid nose-acral anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010159 mismatch repair cancer syndrome 1 'mismatch repair cancer syndrome 1' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009176 epidermodysplasia verruciformis 'epidermodysplasia verruciformis' SubClassOf 'genetic skin disease' 'epidermodysplasia verruciformis' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0010167 urocanic aciduria 'urocanic aciduria' SubClassOf 'neurometabolic disease' 'urocanic aciduria' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0009196 ermine phenotype 'ermine phenotype' SubClassOf 'syndromic genetic hearing loss' 'ermine phenotype' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010176 orofaciodigital syndrome type 6 'orofaciodigital syndrome type 6' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0010172 VACTERL with hydrocephalus 'VACTERL with hydrocephalus' SubClassOf 'congenital nervous system disorder' 'VACTERL with hydrocephalus' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'VACTERL with hydrocephalus' SubClassOf 'syndromic anorectal malformation' 'VACTERL with hydrocephalus' SubClassOf 'X-linked syndromic intellectual disability' 'VACTERL with hydrocephalus' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'VACTERL with hydrocephalus' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010188 familial isolated deficiency of vitamin E 'familial isolated deficiency of vitamin E' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010196 Werner syndrome 'Werner syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0010199 white forelock with malformations 'white forelock with malformations' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'white forelock with malformations' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'white forelock with malformations' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010193 Weaver syndrome 'Weaver syndrome' SubClassOf 'genetic nervous system disorder' 'Weaver syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0034145 oculocerebrodental syndrome 'oculocerebrodental syndrome' SubClassOf 'congenital nervous system disorder' 'oculocerebrodental syndrome' SubClassOf 'syndromic cataract' 'oculocerebrodental syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'oculocerebrodental syndrome' SubClassOf 'syndromic genetic hearing loss' 'oculocerebrodental syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017406 hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 'hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'syndromic genetic hearing loss' 'hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0017400 hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 'hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017411 neonatal inflammatory skin and bowel disease 'neonatal inflammatory skin and bowel disease' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0042484 disseminated sporotrichosis 'disseminated sporotrichosis' EquivalentTo 'sporotrichosis' and ('has modifier' some 'disseminated') 'disseminated sporotrichosis' EquivalentTo 'sporotrichosis' and ('bearer_of' some 'disseminated') http://www.orpha.net/ORDO/Orphanet_183509 Rare genetic headache 'Rare genetic headache' SubClassOf 'genetic nervous system disorder' http://www.orpha.net/ORDO/Orphanet_183521 Rare genetic movement disorder 'Rare genetic movement disorder' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007924 Bannayan-Riley-Ruvalcaba syndrome 'Bannayan-Riley-Ruvalcaba syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0007943 Nager acrofacial dysostosis 'Nager acrofacial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nager acrofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019929 49,XXXXY syndrome '49,XXXXY syndrome' SubClassOf 'genetic nervous system disorder' '49,XXXXY syndrome' SubClassOf 'syndromic intellectual disability' '49,XXXXY syndrome' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0019928 48,XXXY syndrome '48,XXXY syndrome' SubClassOf 'genetic nervous system disorder' '48,XXXY syndrome' SubClassOf 'syndromic intellectual disability' '48,XXXY syndrome' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0007949 Marshall syndrome 'Marshall syndrome' SubClassOf 'syndromic myopia' 'Marshall syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Marshall syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Marshall syndrome' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0007958 familial medullary thyroid carcinoma 'familial medullary thyroid carcinoma' EquivalentTo 'medullary thyroid gland carcinoma' and ('has modifier' some 'inherited') 'familial medullary thyroid carcinoma' EquivalentTo 'medullary thyroid gland carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0032913 congenital heart defects, multiple types, 7 'congenital heart defects, multiple types, 7' SubClassOf 'has modifier' some 'congenital' 'congenital heart defects, multiple types, 7' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007953 Binder syndrome 'Binder syndrome' SubClassOf 'congenital nervous system disorder' 'Binder syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Binder syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Binder syndrome' SubClassOf 'syndromic genetic hearing loss' 'Binder syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0032900 neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements 'neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0007962 Megalodactyly 'Megalodactyly' SubClassOf 'genetic disorder' 'Megalodactyly' SubClassOf 'genetic disorder' 'Megalodactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0035162 http://purl.obolibrary.org/obo/MONDO_0019946 ligneous conjunctivitis 'ligneous conjunctivitis' SubClassOf 'has modifier' some 'rare' 'ligneous conjunctivitis' SubClassOf 'material entity' 'ligneous conjunctivitis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019943 hereditary continuous muscle fiber activity 'hereditary continuous muscle fiber activity' SubClassOf 'non-dystrophic myopathy' 'hereditary continuous muscle fiber activity' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0019940 hypertrichosis-acromegaloid facial appearance syndrome 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'bearer_of' some 'rare' 'hypertrichosis-acromegaloid facial appearance syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019952 congenital myopathy 'congenital myopathy' SubClassOf 'has modifier' some 'congenital' 'congenital myopathy' SubClassOf 'non-dystrophic myopathy' 'congenital myopathy' SubClassOf 'myopathy' 'congenital myopathy' SubClassOf 'bearer_of' some 'congenital' 'congenital myopathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0032925 respiratory papillomatosis, juvenile recurrent, congenital 'respiratory papillomatosis, juvenile recurrent, congenital' SubClassOf 'has modifier' some 'congenital' 'respiratory papillomatosis, juvenile recurrent, congenital' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007989 congenital microcoria 'congenital microcoria' SubClassOf 'has modifier' some 'congenital' 'congenital microcoria' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0032921 neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation 'neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0007988 autosomal dominant primary microcephaly 'autosomal dominant primary microcephaly' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'autosomal dominant primary microcephaly' SubClassOf 'intellectual disability, autosomal dominant' 'autosomal dominant primary microcephaly' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'autosomal dominant primary microcephaly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 'autosomal dominant primary microcephaly' SubClassOf 'congenital nervous system disorder' 'autosomal dominant primary microcephaly' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0017306 disorder of phenylalanine metabolism 'disorder of phenylalanine metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'disorder of phenylalanine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'disorder of phenylalanine metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017307 disorder of tyrosine metabolism 'disorder of tyrosine metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'disorder of tyrosine metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'disorder of tyrosine metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017305 syndromic oculocutaneous albinism 'syndromic oculocutaneous albinism' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0007991 microcephaly-deafness-intellectual disability syndrome 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephaly-deafness-intellectual disability syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017317 phakomatosis pigmentokeratotica 'phakomatosis pigmentokeratotica' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017318 phakomatosis pigmentovascularis 'phakomatosis pigmentovascularis' SubClassOf 'has modifier' some 'rare' 'phakomatosis pigmentovascularis' SubClassOf 'bearer_of' some 'rare' 'phakomatosis pigmentovascularis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017314 Ehlers-Danlos syndrome, vascular type 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, vascular type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019978 Robinow syndrome 'Robinow syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Robinow syndrome' SubClassOf 'syndromic disease' 'Robinow syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 'short stature-deafness-neutrophil dysfunction-dysmorphism syndrome' SubClassOf 'syndromic genetic hearing loss' 'short stature-deafness-neutrophil dysfunction-dysmorphism syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017312 Perrault syndrome 'Perrault syndrome' SubClassOf 'genetic infertility' 'Perrault syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 'neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies 'neurodevelopmental disorder with microcephaly and dysmorphic facies' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly and dysmorphic facies' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with microcephaly and dysmorphic facies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0017329 familial vesicoureteral reflux 'familial vesicoureteral reflux' EquivalentTo 'vesicoureteral reflux' and ('has modifier' some 'inherited') 'familial vesicoureteral reflux' EquivalentTo 'vesicoureteral reflux' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017320 phosphoenolpyruvate carboxykinase deficiency 'phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'gluconeogenesis disorder' 'phosphoenolpyruvate carboxykinase deficiency' SubClassOf 'gluconeogenesis disorder' http://purl.obolibrary.org/obo/MONDO_0017335 microtriplication 11q24.1 'microtriplication 11q24.1' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017337 inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 'inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency' SubClassOf 'has modifier' some 'rare' 'inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency' SubClassOf 'bearer_of' some 'rare' 'inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017338 fatal multiple mitochondrial dysfunctions syndrome 'fatal multiple mitochondrial dysfunctions syndrome' SubClassOf 'cerebral organic aciduria' 'fatal multiple mitochondrial dysfunctions syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0017341 virus associated tumor 'virus associated tumor' SubClassOf 'has modifier' some 'rare' 'virus associated tumor' SubClassOf 'material entity' 'virus associated tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0044987 face disorder 'face disorder' SubClassOf 'head disorder' http://purl.obolibrary.org/obo/MONDO_0017355 inborn disorder of proline metabolism 'inborn disorder of proline metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'inborn disorder of proline metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017356 inborn disorder of ornithine metabolism 'inborn disorder of ornithine metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'inborn disorder of ornithine metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017350 inborn disorder of tryptophan metabolism 'inborn disorder of tryptophan metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'inborn disorder of tryptophan metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' 'inborn disorder of tryptophan metabolism' SubClassOf 'amino acid metabolism disease' http://purl.obolibrary.org/obo/MONDO_0044999 scalp disorder 'scalp disorder' SubClassOf 'head disorder' http://purl.obolibrary.org/obo/MONDO_0017366 hereditary pheochromocytoma-paraganglioma 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'has modifier' some 'rare' 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'bearer_of' some 'rare' 'hereditary pheochromocytoma-paraganglioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017379 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'has modifier' some 'rare' 'polyneuropathy-intellectual disability-acromicria-premature menopause syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017375 congenital enterovirus infection 'congenital enterovirus infection' EquivalentTo 'Enterovirus infectious disease' and ('has modifier' some 'congenital') 'congenital enterovirus infection' SubClassOf 'has modifier' some 'congenital' 'congenital enterovirus infection' SubClassOf 'bearer_of' some 'congenital' 'congenital enterovirus infection' EquivalentTo 'Enterovirus infectious disease' and ('bearer_of' some 'congenital') http://purl.obolibrary.org/obo/MONDO_0017398 3MC syndrome '3MC syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '3MC syndrome' SubClassOf 'congenital nervous system disorder' '3MC syndrome' SubClassOf 'syndromic intellectual disability' '3MC syndrome' SubClassOf 'genetic nervous system disorder' '3MC syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017396 toxic dermatosis 'toxic dermatosis' SubClassOf 'has modifier' some 'rare' 'toxic dermatosis' SubClassOf 'material entity' 'toxic dermatosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0005938 congenital left-sided heart lesions 'congenital left-sided heart lesions' SubClassOf 'has modifier' some 'congenital' 'congenital left-sided heart lesions' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007804 Pallister-Hall syndrome 'Pallister-Hall syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Pallister-Hall syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Pallister-Hall syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Pallister-Hall syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0019803 angioma serpiginosum 'angioma serpiginosum' SubClassOf 'has modifier' some 'rare' 'angioma serpiginosum' SubClassOf 'bearer_of' some 'rare' 'angioma serpiginosum' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019801 acute adrenal insufficiency 'acute adrenal insufficiency' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0007837 Johnson neuroectodermal syndrome 'Johnson neuroectodermal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Johnson neuroectodermal syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007839 Aase-Smith syndrome 'Aase-Smith syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Aase-Smith syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Aase-Smith syndrome' SubClassOf 'genetic nervous system disorder' 'Aase-Smith syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007846 KBG syndrome 'KBG syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'KBG syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007852 palmoplantar keratoderma-deafness syndrome 'palmoplantar keratoderma-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019833 pituitary hormone deficiency from tumoral origin 'pituitary hormone deficiency from tumoral origin' SubClassOf 'acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0019832 acquired pituitary hormone deficiency 'acquired pituitary hormone deficiency' EquivalentTo 'hypopituitarism' and ('has modifier' some 'acquired') 'acquired pituitary hormone deficiency' SubClassOf 'has modifier' some 'acquired' 'acquired pituitary hormone deficiency' EquivalentTo 'hypopituitarism' and ('bearer_of' some 'acquired') 'acquired pituitary hormone deficiency' SubClassOf 'bearer_of' some 'acquired' 'acquired pituitary hormone deficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020831 congenital vertebral-cardiac-renal anomalies syndrome 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'syndromic genetic hearing loss' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'syndromic urogenital tract malformation' 'congenital vertebral-cardiac-renal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019834 pituitary hormone deficiency from meningeal origin 'pituitary hormone deficiency from meningeal origin' SubClassOf 'acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0007866 Bart-Pumphrey syndrome 'Bart-Pumphrey syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007864 angioosteohypertrophic syndrome 'angioosteohypertrophic syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0019843 pituitary hormone deficiency secondary to a granulomatous disease 'pituitary hormone deficiency secondary to a granulomatous disease' SubClassOf 'acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0019846 acquired central diabetes insipidus 'acquired central diabetes insipidus' SubClassOf 'has modifier' some 'acquired' 'acquired central diabetes insipidus' SubClassOf 'material entity' 'acquired central diabetes insipidus' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0019840 acropectororenal dysplasia 'acropectororenal dysplasia' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0007874 trichorhinophalangeal syndrome type II 'trichorhinophalangeal syndrome type II' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0007872 LADD syndrome 'LADD syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'LADD syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019851 acquired primary ovarian failure 'acquired primary ovarian failure' SubClassOf 'has modifier' some 'acquired' 'acquired primary ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('has modifier' some 'acquired') 'acquired primary ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('bearer_of' some 'acquired') 'acquired primary ovarian failure' SubClassOf 'material entity' 'acquired primary ovarian failure' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0019852 inherited primary ovarian failure 'inherited primary ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('has modifier' some 'inherited') 'inherited primary ovarian failure' EquivalentTo 'primary ovarian insufficiency' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007880 congenital laryngeal web 'congenital laryngeal web' SubClassOf 'has modifier' some 'congenital' 'congenital laryngeal web' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019869 mosaic trisomy 22 'mosaic trisomy 22' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 22' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019866 mosaic trisomy 5 'mosaic trisomy 5' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 5' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019865 mosaic trisomy 4 'mosaic trisomy 4' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 4' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019868 mosaic trisomy 10 'mosaic trisomy 10' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 10' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0019867 mosaic trisomy 8 'mosaic trisomy 8' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 8' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0020841 neurodevelopmental disorder with cerebellar atrophy and with or without seizures 'neurodevelopmental disorder with cerebellar atrophy and with or without seizures' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with cerebellar atrophy and with or without seizures' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with cerebellar atrophy and with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0007899 lichen sclerosus et atrophicus 'lichen sclerosus et atrophicus' SubClassOf 'genetic skin disease' 'lichen sclerosus et atrophicus' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007893 Noonan syndrome with multiple lentigines 'Noonan syndrome with multiple lentigines' SubClassOf 'syndromic genetic hearing loss' 'Noonan syndrome with multiple lentigines' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Noonan syndrome with multiple lentigines' SubClassOf 'congenital nervous system disorder' 'Noonan syndrome with multiple lentigines' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Noonan syndrome with multiple lentigines' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007892 Lenz-Majewski hyperostotic dwarfism 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'genetic nervous system disorder' 'Lenz-Majewski hyperostotic dwarfism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0044807 inherited dystonia 'inherited dystonia' EquivalentTo 'dystonic disorder' and ('has modifier' some 'inherited') 'inherited dystonia' SubClassOf 'genetic nervous system disorder' 'inherited dystonia' SubClassOf 'genetic disorder' 'inherited dystonia' EquivalentTo 'dystonic disorder' and ('bearer_of' some 'inherited') 'inherited dystonia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017236 rapidly progressive glomerulonephritis 'rapidly progressive glomerulonephritis' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0017232 recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 'recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome' SubClassOf 'has modifier' some 'rare' 'recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017234 inherited prion disease 'inherited prion disease' EquivalentTo 'prion disease' and ('has modifier' some 'inherited') 'inherited prion disease' EquivalentTo 'prion disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017241 AP4-related intellectual disability and spastic paraplegia 'AP4-related intellectual disability and spastic paraplegia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017258 idiopathic panuveitis 'idiopathic panuveitis' EquivalentTo 'panuveitis' and ('has modifier' some 'idiopathic') 'idiopathic panuveitis' EquivalentTo 'panuveitis' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0017256 idiopathic anterior uveitis 'idiopathic anterior uveitis' EquivalentTo 'anterior uveitis' and ('has modifier' some 'idiopathic') 'idiopathic anterior uveitis' EquivalentTo 'anterior uveitis' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0032894 neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy 'neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0032888 neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies 'neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0032889 Poirier-Bienvenu neurodevelopmental syndrome 'Poirier-Bienvenu neurodevelopmental syndrome' SubClassOf 'genetic nervous system disorder' 'Poirier-Bienvenu neurodevelopmental syndrome' SubClassOf 'neurodevelopmental disorder' 'Poirier-Bienvenu neurodevelopmental syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0032887 neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 'neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0017265 autosomal recessive congenital ichthyosis 'autosomal recessive congenital ichthyosis' SubClassOf 'has modifier' some 'congenital' 'autosomal recessive congenital ichthyosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017262 inherited non-syndromic ichthyosis 'inherited non-syndromic ichthyosis' EquivalentTo 'inherited ichthyosis' and ('has modifier' some 'has an isolated presentation') 'inherited non-syndromic ichthyosis' SubClassOf 'has modifier' some 'has an isolated presentation' 'inherited non-syndromic ichthyosis' SubClassOf 'bearer_of' some 'has an isolated presentation' 'inherited non-syndromic ichthyosis' EquivalentTo 'inherited ichthyosis' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0017263 inherited ichthyosis syndromic form 'inherited ichthyosis syndromic form' EquivalentTo 'inherited ichthyosis' and ('has modifier' some 'has a syndromic presentation') 'inherited ichthyosis syndromic form' EquivalentTo 'inherited ichthyosis' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0017290 familial intrahepatic cholestasis 'familial intrahepatic cholestasis' EquivalentTo 'intrahepatic cholestasis' and ('has modifier' some 'inherited') 'familial intrahepatic cholestasis' EquivalentTo 'intrahepatic cholestasis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017284 Xp22.13p22.2 duplication syndrome 'Xp22.13p22.2 duplication syndrome' SubClassOf 'genetic nervous system disorder' 'Xp22.13p22.2 duplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0044889 high grade B-cell lymphoma 'high grade B-cell lymphoma' EquivalentTo 'diffuse large B-cell lymphoma' and ('has modifier' some 'tumor grade 3 or 4, general grading system') 'high grade B-cell lymphoma' SubClassOf 'has modifier' some 'tumor grade 3 or 4, general grading system' 'high grade B-cell lymphoma' EquivalentTo 'diffuse large B-cell lymphoma' and ('bearer_of' some 'tumor grade 3 or 4, general grading system') 'high grade B-cell lymphoma' SubClassOf 'bearer_of' some 'tumor grade 3 or 4, general grading system' http://purl.obolibrary.org/obo/MONDO_0017294 glycerol kinase deficiency, infantile form 'glycerol kinase deficiency, infantile form' SubClassOf 'gluconeogenesis disorder' http://purl.obolibrary.org/obo/MONDO_0017295 glycerol kinase deficiency, juvenile form 'glycerol kinase deficiency, juvenile form' SubClassOf 'gluconeogenesis disorder' http://purl.obolibrary.org/obo/MONDO_0017296 glycerol kinase deficiency, adult form 'glycerol kinase deficiency, adult form' SubClassOf 'gluconeogenesis disorder' http://purl.obolibrary.org/obo/MONDO_0042233 disseminated candidiasis 'disseminated candidiasis' EquivalentTo 'candidiasis' and ('has modifier' some 'disseminated') 'disseminated candidiasis' EquivalentTo 'candidiasis' and ('bearer_of' some 'disseminated') http://www.orpha.net/ORDO/Orphanet_667 Autosomal recessive malignant osteopetrosis 'Autosomal recessive malignant osteopetrosis' SubClassOf 'syndromic hereditary optic neuropathy' http://www.orpha.net/ORDO/Orphanet_661 Ondine syndrome 'Ondine syndrome' SubClassOf 'genetic nervous system disorder' http://www.orpha.net/ORDO/Orphanet_171723 White sponge nevus 'White sponge nevus' SubClassOf 'genetic skin disease' http://www.ebi.ac.uk/efo/EFO_0001069 nutritional disorder 'nutritional disorder' SubClassOf 'disease' http://www.ebi.ac.uk/efo/EFO_0001054 leprosy 'leprosy' SubClassOf 'has modifier' some 'rare' 'leprosy' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_352654 Early-onset progressive neurodegeneration - blindness - ataxia - spasticity 'Early-onset progressive neurodegeneration - blindness - ataxia - spasticity' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0007904 median nodule of the upper lip 'median nodule of the upper lip' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'median nodule of the upper lip' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'median nodule of the upper lip' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007902 lichen planus, familial 'lichen planus, familial' EquivalentTo 'lichen planus' and ('has modifier' some 'inherited') 'lichen planus, familial' SubClassOf 'genetic skin disease' 'lichen planus, familial' SubClassOf 'genetic disorder' 'lichen planus, familial' EquivalentTo 'lichen planus' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007909 familial multiple lipomatosis 'familial multiple lipomatosis' SubClassOf 'has modifier' some 'rare' 'familial multiple lipomatosis' SubClassOf 'bearer_of' some 'rare' 'familial multiple lipomatosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/HP_0001425 Heterogeneous 'Heterogeneous' SubClassOf 'Mode of inheritance' 'Heterogeneous' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007700 hawkinsinuria 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' 'hawkinsinuria' SubClassOf 'disorder of tyrosine metabolism' http://purl.obolibrary.org/obo/MONDO_0007716 alpha thalassemia-intellectual disability syndrome type 1 'alpha thalassemia-intellectual disability syndrome type 1' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007712 oculoauriculovertebral spectrum with radial defects 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'oculoauriculovertebral spectrum with radial defects' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007711 Bencze syndrome 'Bencze syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'Bencze syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Bencze syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007739 Huntington disease 'Huntington disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007732 Holt-Oram syndrome 'Holt-Oram syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Holt-Oram syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019719 congenital anomaly of kidney and urinary tract 'congenital anomaly of kidney and urinary tract' SubClassOf 'has modifier' some 'rare' 'congenital anomaly of kidney and urinary tract' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019716 overgrowth syndrome 'overgrowth syndrome' SubClassOf 'has modifier' some 'rare' 'overgrowth syndrome' SubClassOf 'material entity' 'overgrowth syndrome' SubClassOf 'bearer_of' some 'rare' http://www.orpha.net/ORDO/Orphanet_91132 Ichthyosis-hypotrichosis syndrome 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'genetic skin disease' 'Ichthyosis-hypotrichosis syndrome' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0007743 attention deficit-hyperactivity disorder 'attention deficit-hyperactivity disorder' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0007744 cholesterol-ester transfer protein deficiency 'cholesterol-ester transfer protein deficiency' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0007741 congenital hydronephrosis 'congenital hydronephrosis' SubClassOf 'has modifier' some 'congenital' 'congenital hydronephrosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007740 Wagner disease 'Wagner disease' SubClassOf 'syndromic myopia' http://purl.obolibrary.org/obo/MONDO_0020704 inherited rippling muscle disease 'inherited rippling muscle disease' EquivalentTo 'rippling muscle disease' and ('has modifier' some 'inherited') 'inherited rippling muscle disease' SubClassOf 'caveolinopathy' 'inherited rippling muscle disease' SubClassOf 'genetic disorder' 'inherited rippling muscle disease' EquivalentTo 'rippling muscle disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019721 syndromic renal or urinary tract malformation 'syndromic renal or urinary tract malformation' SubClassOf 'kidney disease' 'syndromic renal or urinary tract malformation' SubClassOf 'urogenital tract malformation' 'syndromic renal or urinary tract malformation' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007757 hyperkeratosis-hyperpigmentation syndrome 'hyperkeratosis-hyperpigmentation syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0007765 hyperostosis cranialis interna 'hyperostosis cranialis interna' SubClassOf 'syndromic genetic hearing loss' 'hyperostosis cranialis interna' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007766 Morgagni-Stewart-Morel syndrome 'Morgagni-Stewart-Morel syndrome' SubClassOf 'has modifier' some 'rare' 'Morgagni-Stewart-Morel syndrome' SubClassOf 'bearer_of' some 'rare' 'Morgagni-Stewart-Morel syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019741 familial cystic renal disease 'familial cystic renal disease' SubClassOf 'has modifier' some 'rare' 'familial cystic renal disease' EquivalentTo 'Cystic Kidney Disease' and ('has modifier' some 'inherited') 'familial cystic renal disease' SubClassOf 'bearer_of' some 'rare' 'familial cystic renal disease' EquivalentTo 'Cystic Kidney Disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019740 acquired thrombotic thrombocytopenic purpura 'acquired thrombotic thrombocytopenic purpura' EquivalentTo 'thrombotic thrombocytopenic purpura' and ('has modifier' some 'acquired') 'acquired thrombotic thrombocytopenic purpura' EquivalentTo 'thrombotic thrombocytopenic purpura' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0019743 nephropathy secondary to a storage or other metabolic disease 'nephropathy secondary to a storage or other metabolic disease' SubClassOf 'has modifier' some 'rare' 'nephropathy secondary to a storage or other metabolic disease' SubClassOf 'bearer_of' some 'rare' 'nephropathy secondary to a storage or other metabolic disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019742 late-onset nephronophthisis 'late-onset nephronophthisis' SubClassOf 'inborn disorder of peptide metabolism' http://purl.obolibrary.org/obo/MONDO_0007776 hypersensitivity pneumonitis, familial 'hypersensitivity pneumonitis, familial' EquivalentTo 'hypersensitivity pneumonitis' and ('has modifier' some 'inherited') 'hypersensitivity pneumonitis, familial' EquivalentTo 'hypersensitivity pneumonitis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007771 hyperpigmentation with or without hypopigmentation, familial progressive 'hyperpigmentation with or without hypopigmentation, familial progressive' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0019751 autoinflammatory syndrome 'autoinflammatory syndrome' SubClassOf 'has modifier' some 'rare' 'autoinflammatory syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007788 hypertriglyceridemia, familial 'hypertriglyceridemia, familial' EquivalentTo 'Hypertriglyceridemia' and ('has modifier' some 'inherited') 'hypertriglyceridemia, familial' EquivalentTo 'Hypertriglyceridemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007784 selective pituitary resistance to thyroid hormone 'selective pituitary resistance to thyroid hormone' SubClassOf 'has modifier' some 'rare' 'selective pituitary resistance to thyroid hormone' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007781 essential hypertension, genetic 'essential hypertension, genetic' EquivalentTo 'essential hypertension' and ('has modifier' some 'inherited') 'essential hypertension, genetic' EquivalentTo 'essential hypertension' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017100 neutropenia-monocytopenia-deafness syndrome 'neutropenia-monocytopenia-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'neutropenia-monocytopenia-deafness syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0032755 neurodevelopmental disorder with or without variable brain abnormalities; NEDBA 'neurodevelopmental disorder with or without variable brain abnormalities; NEDBA' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with or without variable brain abnormalities; NEDBA' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with or without variable brain abnormalities; NEDBA' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0007797 hypoparathyroidism-deafness-renal disease syndrome 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'syndromic genetic hearing loss' 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'syndromic urogenital tract malformation' 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'hypoparathyroidism-deafness-renal disease syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007795 mullerian duct anomalies-limb anomalies syndrome 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'mullerian duct anomalies-limb anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020771 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 'spinocerebellar ataxia, autosomal recessive, with axonal neuropathy' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0019778 Smith-Fineman-Myers syndrome 'Smith-Fineman-Myers syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' 'Smith-Fineman-Myers syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019777 Carpenter-Waziri syndrome 'Carpenter-Waziri syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' 'Carpenter-Waziri syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019779 Renier-Gabreels-Jasper syndrome 'Renier-Gabreels-Jasper syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' 'Renier-Gabreels-Jasper syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019776 Juberg-Marsidi syndrome 'Juberg-Marsidi syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' 'Juberg-Marsidi syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Juberg-Marsidi syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019775 Chudley-Lowry-Hoar syndrome 'Chudley-Lowry-Hoar syndrome' SubClassOf 'X-linked intellectual disability-hypotonic face syndrome' 'Chudley-Lowry-Hoar syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020761 Bowen disease of the skin 'Bowen disease of the skin' SubClassOf 'has modifier' some 'rare' 'Bowen disease of the skin' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017126 oculo-skeletal-renal syndrome 'oculo-skeletal-renal syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'oculo-skeletal-renal syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017127 inherited soft tissue tumor 'inherited soft tissue tumor' SubClassOf 'has modifier' some 'rare' 'inherited soft tissue tumor' EquivalentTo 'mesenchymal cell neoplasm' and ('has modifier' some 'inherited') 'inherited soft tissue tumor' SubClassOf 'bearer_of' some 'rare' 'inherited soft tissue tumor' EquivalentTo 'mesenchymal cell neoplasm' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017128 inherited digestive tract tumor 'inherited digestive tract tumor' SubClassOf 'has modifier' some 'rare' 'inherited digestive tract tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017129 inherited cardiac tumor 'inherited cardiac tumor' SubClassOf 'has modifier' some 'rare' 'inherited cardiac tumor' EquivalentTo 'Heart neoplasm' and ('has modifier' some 'inherited') 'inherited cardiac tumor' EquivalentTo 'Heart neoplasm' and ('bearer_of' some 'inherited') 'inherited cardiac tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017123 arthrogryposis-renal dysfunction-cholestasis syndrome 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'syndromic urogenital tract malformation' 'arthrogryposis-renal dysfunction-cholestasis syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0019787 autoimmune enteropathy 'autoimmune enteropathy' SubClassOf 'has modifier' some 'rare' 'autoimmune enteropathy' SubClassOf 'material entity' 'autoimmune enteropathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019781 astrocytoma (excluding glioblastoma) 'astrocytoma (excluding glioblastoma)' SubClassOf 'astrocytoma' http://purl.obolibrary.org/obo/MONDO_0017138 Opitz G/BBB syndrome 'Opitz G/BBB syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Opitz G/BBB syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044724 3-methylglutaconic aciduria type 9 '3-methylglutaconic aciduria type 9' SubClassOf 'cerebral organic aciduria' '3-methylglutaconic aciduria type 9' SubClassOf 'neurometabolic disease' '3-methylglutaconic aciduria type 9' SubClassOf 'syndromic intellectual disability' '3-methylglutaconic aciduria type 9' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017135 olivopontocerebellar atrophy-deafness syndrome 'olivopontocerebellar atrophy-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'olivopontocerebellar atrophy-deafness syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017131 genetic cardiac anomaly 'genetic cardiac anomaly' SubClassOf 'has modifier' some 'rare' 'genetic cardiac anomaly' SubClassOf 'bearer_of' some 'rare' 'genetic cardiac anomaly' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0030105 galactosemia 4 'galactosemia 4' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800152 http://purl.obolibrary.org/obo/MONDO_0017148 heritable pulmonary arterial hypertension 'heritable pulmonary arterial hypertension' EquivalentTo 'pulmonary arterial hypertension' and ('has modifier' some 'inherited') 'heritable pulmonary arterial hypertension' EquivalentTo 'pulmonary arterial hypertension' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017140 L1 syndrome 'L1 syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017143 genetic infertility 'genetic infertility' SubClassOf 'infertility' 'genetic infertility' SubClassOf 'genetic disorder' 'genetic infertility' EquivalentTo 'infertility' and ('has modifier' some 'inherited') 'genetic infertility' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0017160 behavioral variant of frontotemporal dementia 'behavioral variant of frontotemporal dementia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017161 frontotemporal dementia with motor neuron disease 'frontotemporal dementia with motor neuron disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0005180 Parkinson disease 'Parkinson disease' SubClassOf 'inborn errors of metabolism' 'Parkinson disease' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0032790 neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities 'neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0044792 large congenital melanocytic nevus 'large congenital melanocytic nevus' SubClassOf 'has modifier' some 'congenital' 'large congenital melanocytic nevus' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0032781 congenital hypotonia, epilepsy, developmental delay, and digital anomalies 'congenital hypotonia, epilepsy, developmental delay, and digital anomalies' SubClassOf 'has modifier' some 'congenital' 'congenital hypotonia, epilepsy, developmental delay, and digital anomalies' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017181 hypnic headache 'hypnic headache' SubClassOf 'has modifier' some 'rare' 'hypnic headache' SubClassOf 'bearer_of' some 'rare' 'hypnic headache' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017182 familial hyperinsulinism 'familial hyperinsulinism' EquivalentTo 'hyperinsulinism' and ('has modifier' some 'inherited') 'familial hyperinsulinism' EquivalentTo 'hyperinsulinism' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017177 hemihyperplasia-multiple lipomatosis syndrome 'hemihyperplasia-multiple lipomatosis syndrome' SubClassOf 'overgrowth syndrome' 'hemihyperplasia-multiple lipomatosis syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0035162 http://purl.obolibrary.org/obo/MONDO_0017173 non-syndromic male infertility due to sperm motility disorder 'non-syndromic male infertility due to sperm motility disorder' EquivalentTo 'male infertility' and ('has modifier' some 'has an isolated presentation') 'non-syndromic male infertility due to sperm motility disorder' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic male infertility due to sperm motility disorder' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic male infertility due to sperm motility disorder' SubClassOf 'material entity' 'non-syndromic male infertility due to sperm motility disorder' EquivalentTo 'male infertility' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0017193 symptomatic form of Coffin-Lowry syndrome in female carriers 'symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'bearer_of' some 'rare' 'symptomatic form of Coffin-Lowry syndrome in female carriers' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome 'osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf 'genetic skin disease' 'osteopathia striata-pigmentary dermopathy-white forelock syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0056797 neurodevelopmental disorder with midbrain and hindbrain malformations 'neurodevelopmental disorder with midbrain and hindbrain malformations' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with midbrain and hindbrain malformations' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with midbrain and hindbrain malformations' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0007604 femoral-facial syndrome 'femoral-facial syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'femoral-facial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007614 congenital fibrosis of extraocular muscles 'congenital fibrosis of extraocular muscles' SubClassOf 'genetic nervous system disorder' 'congenital fibrosis of extraocular muscles' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007612 gingival fibromatosis-progressive deafness syndrome 'gingival fibromatosis-progressive deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'gingival fibromatosis-progressive deafness syndrome' SubClassOf 'bearer_of' some 'rare' 'gingival fibromatosis-progressive deafness syndrome' SubClassOf 'material entity' 'gingival fibromatosis-progressive deafness syndrome' SubClassOf 'disorder of development or morphogenesis' http://purl.obolibrary.org/obo/MONDO_0007619 isolated congenital adermatoglyphia 'isolated congenital adermatoglyphia' SubClassOf 'genetic skin disease' 'isolated congenital adermatoglyphia' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0007626 familial congenital palsy of trochlear nerve 'familial congenital palsy of trochlear nerve' SubClassOf 'genetic nervous system disorder' 'familial congenital palsy of trochlear nerve' EquivalentTo 'fourth cranial nerve palsy' and ('has modifier' some 'inherited') 'familial congenital palsy of trochlear nerve' SubClassOf 'genetic disorder' 'familial congenital palsy of trochlear nerve' EquivalentTo 'fourth cranial nerve palsy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007620 fish eye disease 'fish eye disease' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0007621 floating-Harbor syndrome 'floating-Harbor syndrome' SubClassOf 'genetic nervous system disorder' 'floating-Harbor syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0019601 autosomal recessive axonal hereditary motor and sensory neuropathy 'autosomal recessive axonal hereditary motor and sensory neuropathy' SubClassOf 'axonal hereditary motor and sensory neuropathy' 'autosomal recessive axonal hereditary motor and sensory neuropathy' SubClassOf 'autosomal recessive disease' 'autosomal recessive axonal hereditary motor and sensory neuropathy' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0007635 Frasier syndrome 'Frasier syndrome' SubClassOf 'primary glomerular disease' 'Frasier syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007648 hereditary diffuse gastric adenocarcinoma 'hereditary diffuse gastric adenocarcinoma' EquivalentTo 'diffuse gastric adenocarcinoma' and ('has modifier' some 'inherited') 'hereditary diffuse gastric adenocarcinoma' EquivalentTo 'diffuse gastric adenocarcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007646 Gamstorp-Wohlfart syndrome 'Gamstorp-Wohlfart syndrome' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0019627 isolated congenital alacrima 'isolated congenital alacrima' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated congenital alacrima' EquivalentTo 'congenital alacrima' and ('has modifier' some 'has an isolated presentation') 'isolated congenital alacrima' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated congenital alacrima' EquivalentTo 'congenital alacrima' and ('bearer_of' some 'has an isolated presentation') http://www.ebi.ac.uk/efo/EFO_1001968 soft tissue sarcoma 'soft tissue sarcoma' SubClassOf 'has modifier' some 'rare' 'soft tissue sarcoma' SubClassOf 'material entity' 'soft tissue sarcoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019624 acquired angioedema 'acquired angioedema' SubClassOf 'has modifier' some 'acquired' 'acquired angioedema' EquivalentTo 'angioedema' and ('has modifier' some 'acquired') 'acquired angioedema' EquivalentTo 'angioedema' and ('bearer_of' some 'acquired') 'acquired angioedema' SubClassOf 'bearer_of' some 'acquired' 'acquired angioedema' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019623 hereditary angioedema 'hereditary angioedema' EquivalentTo 'angioedema' and ('has modifier' some 'inherited') 'hereditary angioedema' SubClassOf 'genetic skin disease' 'hereditary angioedema' SubClassOf 'genetic disorder' 'hereditary angioedema' EquivalentTo 'angioedema' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019625 familial thoracic aortic aneurysm and aortic dissection 'familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'has modifier' some 'rare' 'familial thoracic aortic aneurysm and aortic dissection' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019620 congenital esophageal diverticulum 'congenital esophageal diverticulum' SubClassOf 'has modifier' some 'congenital' 'congenital esophageal diverticulum' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_1001979 Adrenocorticotropic hormone deficiency 'Adrenocorticotropic hormone deficiency' SubClassOf 'isolated congenital hypogonadotropic hypogonadism' 'Adrenocorticotropic hormone deficiency' SubClassOf 'combined pituitary hormone deficiencies, genetic form' 'Adrenocorticotropic hormone deficiency' SubClassOf 'non-acquired pituitary hormone deficiency' 'Adrenocorticotropic hormone deficiency' SubClassOf 'hypopituitarism' 'Adrenocorticotropic hormone deficiency' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0020634 grade III meningioma 'grade III meningioma' SubClassOf 'has modifier' some 'tumor grade 3, general grading system' 'grade III meningioma' EquivalentTo 'meningioma' and ('has modifier' some 'tumor grade 3, general grading system') 'grade III meningioma' SubClassOf 'bearer_of' some 'tumor grade 3, general grading system' 'grade III meningioma' EquivalentTo 'meningioma' and ('bearer_of' some 'tumor grade 3, general grading system') http://purl.obolibrary.org/obo/MONDO_0020633 anaplastic cancer 'anaplastic cancer' SubClassOf 'cancer' 'anaplastic cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0019631 persistent hyperplastic primary vitreous 'persistent hyperplastic primary vitreous' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0019630 congenital ectropion uveae 'congenital ectropion uveae' SubClassOf 'has modifier' some 'congenital' 'congenital ectropion uveae' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007669 renal cysts and diabetes syndrome 'renal cysts and diabetes syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'renal cysts and diabetes syndrome' SubClassOf 'inborn errors of metabolism' 'renal cysts and diabetes syndrome' SubClassOf 'syndromic urogenital tract malformation' 'renal cysts and diabetes syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'renal cysts and diabetes syndrome' SubClassOf 'syndromic disease' http://www.ebi.ac.uk/efo/EFO_1001983 Autosomal recessive Charcot Marie Tooth disease type 2X 'Autosomal recessive Charcot Marie Tooth disease type 2X' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://www.ebi.ac.uk/efo/EFO_1001981 Aminoacylase 1 deficiency 'Aminoacylase 1 deficiency' SubClassOf 'inborn aminoacylase deficiency' http://purl.obolibrary.org/obo/MONDO_0020627 epileptic encephalopathy, infantile or early childhood 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'genetic nervous system disorder' 'epileptic encephalopathy, infantile or early childhood' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_1001986 connective tissue disease 'connective tissue disease' SubClassOf 'disease' 'connective tissue disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0007679 GMS syndrome 'GMS syndrome' SubClassOf 'has modifier' some 'rare' 'GMS syndrome' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001995 Sclerodermatomyositis 'Sclerodermatomyositis' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0007671 fibronectin glomerulopathy 'fibronectin glomerulopathy' SubClassOf 'primary glomerular disease' 'fibronectin glomerulopathy' SubClassOf 'glomerular disease' http://purl.obolibrary.org/obo/MONDO_0007672 glomuvenous malformation 'glomuvenous malformation' SubClassOf 'genetic central nervous system and retinal vascular disease' 'glomuvenous malformation' SubClassOf 'neurovascular disorder' http://purl.obolibrary.org/obo/MONDO_0007688 Myhre syndrome 'Myhre syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Myhre syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease 'polycystic kidney disease' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0007680 multinodular goiter-cystic kidney-polydactyly syndrome 'multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'multinodular goiter-cystic kidney-polydactyly syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0044635 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome 'diaph1-related sensorineural hearing loss-thrombocytopenia syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019666 spondyloepimetaphyseal dysplasia, PAPSS2 type 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, PAPSS2 type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0007698 hand-foot-genital syndrome 'hand-foot-genital syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'hand-foot-genital syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007696 Emery-Nelson syndrome 'Emery-Nelson syndrome' SubClassOf 'has modifier' some 'rare' 'Emery-Nelson syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020676 disorder of central nervous system or retinal vasculature 'disorder of central nervous system or retinal vasculature' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0019675 spondyloepimetaphyseal dysplasia with joint laxity 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia with joint laxity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0020663 malignant spindle cell neoplasm 'malignant spindle cell neoplasm' SubClassOf 'cancer' 'malignant spindle cell neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0020665 high grade malignant neoplasm 'high grade malignant neoplasm' SubClassOf 'cancer' 'high grade malignant neoplasm' SubClassOf 'has modifier' some 'tumor grade 3 or 4, general grading system' 'high grade malignant neoplasm' EquivalentTo 'cancer' and ('has modifier' some 'tumor grade 3 or 4, general grading system') 'high grade malignant neoplasm' SubClassOf 'material entity' 'high grade malignant neoplasm' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 'high grade malignant neoplasm' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0004992 and ('bearer_of' some 'tumor grade 3 or 4, general grading system') 'high grade malignant neoplasm' SubClassOf 'bearer_of' some 'tumor grade 3 or 4, general grading system' http://purl.obolibrary.org/obo/MONDO_0020693 glycogen storage disease due to liver phosphorylase kinase deficiency 'glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'has modifier' some 'rare' 'glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'glycogen storage disease' 'glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'glycogen storage disease' 'glycogen storage disease due to liver phosphorylase kinase deficiency' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003888 attention deficit hyperactivity disorder 'attention deficit hyperactivity disorder' SubClassOf 'attention deficit-hyperactivity disorder' 'attention deficit hyperactivity disorder' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0020698 inborn error of biotin metabolism 'inborn error of biotin metabolism' SubClassOf 'inherited organic acidemia' 'inborn error of biotin metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017050 intraocular medulloepithelioma 'intraocular medulloepithelioma' SubClassOf 'has modifier' some 'rare' 'intraocular medulloepithelioma' SubClassOf 'bearer_of' some 'rare' 'intraocular medulloepithelioma' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017047 infantile axonal neuropathy 'infantile axonal neuropathy' SubClassOf 'axonal neuropathy' http://purl.obolibrary.org/obo/MONDO_0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome 'osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017043 congenital mesoblastic nephroma 'congenital mesoblastic nephroma' SubClassOf 'has modifier' some 'congenital' 'congenital mesoblastic nephroma' SubClassOf 'has modifier' some 'rare' 'congenital mesoblastic nephroma' SubClassOf 'bearer_of' some 'congenital' 'congenital mesoblastic nephroma' SubClassOf 'material entity' 'congenital mesoblastic nephroma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0030037 neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0032697 neurodevelopmental disorder and language delay with or without structural brain abnormalities 'neurodevelopmental disorder and language delay with or without structural brain abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder and language delay with or without structural brain abnormalities' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder and language delay with or without structural brain abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0032698 neurodevelopmental disorder with central and peripheral motor dysfunction 'neurodevelopmental disorder with central and peripheral motor dysfunction' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with central and peripheral motor dysfunction' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with central and peripheral motor dysfunction' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://www.ebi.ac.uk/efo/EFO_0003891 biliary tract neoplasm 'biliary tract neoplasm' SubClassOf 'liver neoplasm' 'biliary tract neoplasm' SubClassOf 'liver and intrahepatic bile duct neoplasm' http://purl.obolibrary.org/obo/MONDO_0044655 c12orf65-related combined oxidative phosphorylation defect 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'syndromic hereditary optic neuropathy' 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'neurometabolic disease' 'c12orf65-related combined oxidative phosphorylation defect' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003894 acne 'acne' SubClassOf 'genetic skin disease' 'acne' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030025 neurodevelopmental disorder with hypotonia, microcephaly, and seizures 'neurodevelopmental disorder with hypotonia, microcephaly, and seizures' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with hypotonia, microcephaly, and seizures' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with hypotonia, microcephaly, and seizures' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0030024 neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities 'neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://www.ebi.ac.uk/efo/EFO_1001918 specific phobia 'specific phobia' SubClassOf 'genetic nervous system disorder' 'specific phobia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0030048 harderoporphyria 'harderoporphyria' SubClassOf 'genetic disorder' 'harderoporphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800180 http://purl.obolibrary.org/obo/MONDO_0017090 midline cerebral malformation 'midline cerebral malformation' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_1001926 pathological gambling 'pathological gambling' SubClassOf 'genetic nervous system disorder' 'pathological gambling' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017089 isolated megalencephaly 'isolated megalencephaly' EquivalentTo 'megalencephaly' and ('has modifier' some 'has an isolated presentation') 'isolated megalencephaly' SubClassOf 'genetic nervous system disorder' 'isolated megalencephaly' EquivalentTo 'megalencephaly' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0030045 Liberfarb syndrome 'Liberfarb syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0030046 neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity 'neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0044699 SIN3A-related intellectual disability syndrome 'SIN3A-related intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'SIN3A-related intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0030060 neurodevelopmental disorder with language impairment and behavioral abnormalities 'neurodevelopmental disorder with language impairment and behavioral abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with language impairment and behavioral abnormalities' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with language impairment and behavioral abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0030063 neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities 'neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://www.orpha.net/ORDO/Orphanet_847 Alpha-thalassemia - X-linked intellectual disability syndrome 'Alpha-thalassemia - X-linked intellectual disability syndrome' SubClassOf 'congenital hematological disorder' http://purl.obolibrary.org/obo/MONDO_0007507 absence of fingerprints-congenital milia syndrome 'absence of fingerprints-congenital milia syndrome' SubClassOf 'has modifier' some 'congenital' 'absence of fingerprints-congenital milia syndrome' SubClassOf 'genetic skin disease' 'absence of fingerprints-congenital milia syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007504 thickened earlobes-conductive deafness syndrome 'thickened earlobes-conductive deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'thickened earlobes-conductive deafness syndrome' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0003802 refractory anemia 'refractory anemia' SubClassOf 'refractory cytopenia with multilineage dysplasia' 'refractory anemia' SubClassOf 'myelodysplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0007526 Ehlers-Danlos syndrome, spondylodysplastic type 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'has modifier' some 'rare' 'Ehlers-Danlos syndrome, spondylodysplastic type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019508 van der Woude syndrome 'van der Woude syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'van der Woude syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019502 autosomal recessive non-syndromic intellectual disability 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'genetic nervous system disorder' 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'bearer_of' some 'rare' 'autosomal recessive non-syndromic intellectual disability' SubClassOf 'disorder of carbohydrate absorption and transport' http://purl.obolibrary.org/obo/MONDO_0019501 Usher syndrome 'Usher syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007537 lateral meningocele syndrome 'lateral meningocele syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020510 idiopathic syringomyelia 'idiopathic syringomyelia' EquivalentTo 'primary syringomyelia' and ('has modifier' some 'idiopathic') 'idiopathic syringomyelia' SubClassOf 'has modifier' some 'rare' 'idiopathic syringomyelia' SubClassOf 'bearer_of' some 'rare' 'idiopathic syringomyelia' EquivalentTo 'primary syringomyelia' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0007533 elliptocytosis 2 'elliptocytosis 2' SubClassOf 'familial hemolytic anemia' http://www.ebi.ac.uk/efo/EFO_0003820 bone neoplasm 'bone neoplasm' SubClassOf 'has modifier' some 'rare' 'bone neoplasm' SubClassOf 'material entity' 'bone neoplasm' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019514 hepatic veno-occlusive disease 'hepatic veno-occlusive disease' SubClassOf 'has modifier' some 'rare' 'hepatic veno-occlusive disease' SubClassOf 'bearer_of' some 'rare' 'hepatic veno-occlusive disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019516 exudative vitreoretinopathy 'exudative vitreoretinopathy' SubClassOf 'genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0020503 resistance to thyrotropin-releasing hormone syndrome 'resistance to thyrotropin-releasing hormone syndrome' SubClassOf 'central congenital hypothyroidism' 'resistance to thyrotropin-releasing hormone syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019524 infantile Bartter syndrome with sensorineural deafness 'infantile Bartter syndrome with sensorineural deafness' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0019520 syndromic lymphedema 'syndromic lymphedema' EquivalentTo 'lymphedema' and ('has modifier' some 'has a syndromic presentation') 'syndromic lymphedema' EquivalentTo 'lymphedema' and ('bearer_of' some 'has a syndromic presentation') http://www.ebi.ac.uk/efo/EFO_0003849 palatal neoplasm 'palatal neoplasm' SubClassOf 'face disorder' http://www.ebi.ac.uk/efo/EFO_0003847 intellectual disability 'intellectual disability' SubClassOf 'characteristic of' some 'brain' 'intellectual disability' SubClassOf 'Abnormality of the nervous system' 'intellectual disability' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0019531 hemolytic anemia due to glutathione reductase deficiency 'hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'normocytic anemia' 'hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'familial hemolytic anemia' 'hemolytic anemia due to glutathione reductase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0019549 severe early-onset axonal neuropathy due to MFN2 deficiency 'severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'severe early-onset axonal neuropathy due to MFN2 deficiency' SubClassOf 'axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0020523 familial parathyroid adenoma 'familial parathyroid adenoma' EquivalentTo 'parathyroid adenoma' and ('has modifier' some 'inherited') 'familial parathyroid adenoma' EquivalentTo 'parathyroid adenoma' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0003863 urogenital neoplasm 'urogenital neoplasm' SubClassOf 'has_disease_location' some ('genitourinary system' or ('part_of' some 'genitourinary system')) 'urogenital neoplasm' EquivalentTo 'disease' and ('has_disease_location' some ('genitourinary system' or ('part_of' some 'genitourinary system'))) http://purl.obolibrary.org/obo/MONDO_0007574 spinocerebellar ataxia type 34 'spinocerebellar ataxia type 34' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0007573 acute erythroleukemia, familial 'acute erythroleukemia, familial' EquivalentTo 'acute erythroleukemia' and ('has modifier' some 'inherited') 'acute erythroleukemia, familial' EquivalentTo 'acute erythroleukemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019550 hereditary motor and sensory neuropathy with acrodystrophy 'hereditary motor and sensory neuropathy with acrodystrophy' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' 'hereditary motor and sensory neuropathy with acrodystrophy' SubClassOf 'axonal hereditary motor and sensory neuropathy' http://www.ebi.ac.uk/efo/EFO_0003851 meningeal neoplasm 'meningeal neoplasm' SubClassOf 'has modifier' some 'rare' 'meningeal neoplasm' SubClassOf 'material entity' 'meningeal neoplasm' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003857 arthrogryposis 'arthrogryposis' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019565 hereditary von Willebrand disease 'hereditary von Willebrand disease' EquivalentTo 'von Willebrand disease (hereditary or acquired)' and ('has modifier' some 'inherited') 'hereditary von Willebrand disease' EquivalentTo 'von Willebrand disease (hereditary or acquired)' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0003763 cerebrovascular disorder 'cerebrovascular disorder' SubClassOf 'disorder of central nervous system or retinal vasculature' http://purl.obolibrary.org/obo/MONDO_0020573 inherited disease susceptibility 'inherited disease susceptibility' SubClassOf 'has modifier' some 'inherited' 'inherited disease susceptibility' EquivalentTo 'disease susceptibility' and ('has modifier' some 'inherited') 'inherited disease susceptibility' SubClassOf 'material entity' 'inherited disease susceptibility' EquivalentTo 'disease susceptibility' and ('bearer_of' some 'inherited') 'inherited disease susceptibility' SubClassOf 'bearer_of' some 'inherited' http://www.ebi.ac.uk/efo/EFO_0003757 Asperger syndrome 'Asperger syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0019589 syndromic genetic hearing loss 'syndromic genetic hearing loss' EquivalentTo 'hearing loss' and ('has modifier' some 'has a syndromic presentation') and ('has modifier' some 'inherited') 'syndromic genetic hearing loss' SubClassOf 'developmental defect during embryogenesis' 'syndromic genetic hearing loss' SubClassOf 'hearing loss' 'syndromic genetic hearing loss' SubClassOf 'syndromic disease' 'syndromic genetic hearing loss' SubClassOf 'inherited auditory system disease' 'syndromic genetic hearing loss' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0020599 acquired coagulation factor deficiency 'acquired coagulation factor deficiency' SubClassOf 'has modifier' some 'acquired' 'acquired coagulation factor deficiency' EquivalentTo 'coagulation protein disease' and ('has modifier' some 'acquired') 'acquired coagulation factor deficiency' SubClassOf 'bearer_of' some 'acquired' 'acquired coagulation factor deficiency' EquivalentTo 'coagulation protein disease' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0019599 primary lipodystrophy 'primary lipodystrophy' SubClassOf 'has modifier' some 'rare' 'primary lipodystrophy' SubClassOf 'material entity' 'primary lipodystrophy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019593 46,XX disorder of sex development induced by fetal androgens excess '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'has modifier' some 'rare' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'material entity' '46,XX disorder of sex development induced by fetal androgens excess' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0003779 Hashimoto's thyroiditis 'Hashimoto's thyroiditis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0032594 intellectual developmental disorder and retinitis pigmentosa; IDDRP 'intellectual developmental disorder and retinitis pigmentosa; IDDRP' SubClassOf 'genetic nervous system disorder' 'intellectual developmental disorder and retinitis pigmentosa; IDDRP' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_701 Alopecia universalis 'Alopecia universalis' SubClassOf 'genetic skin disease' 'Alopecia universalis' SubClassOf 'skin disease' http://www.ebi.ac.uk/efo/EFO_1001795 fusariosis 'fusariosis' SubClassOf 'has modifier' some 'rare' 'fusariosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007409 cryptomicrotia-brachydactyly-excess fingertip arch syndrome 'cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf 'bearer_of' some 'rare' 'cryptomicrotia-brachydactyly-excess fingertip arch syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007403 inherited Creutzfeldt-Jakob disease 'inherited Creutzfeldt-Jakob disease' EquivalentTo 'Creutzfeldt Jacob Disease' and ('has modifier' some 'inherited') 'inherited Creutzfeldt-Jakob disease' EquivalentTo 'Creutzfeldt Jacob Disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007401 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 'craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007417 Darier disease 'Darier disease' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0007413 Cyprus facial-neuromusculoskeletal syndrome 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'bearer_of' some 'rare' 'Cyprus facial-neuromusculoskeletal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007412 Beare-Stevenson cutis gyrata syndrome 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'genetic skin disease' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Beare-Stevenson cutis gyrata syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007410 isolated cryptophthalmia 'isolated cryptophthalmia' EquivalentTo 'cryptophthalmia' and ('has modifier' some 'has an isolated presentation') 'isolated cryptophthalmia' EquivalentTo 'cryptophthalmia' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0007428 deafness-craniofacial syndrome 'deafness-craniofacial syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-craniofacial syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'deafness-craniofacial syndrome' SubClassOf 'congenital nervous system disorder' 'deafness-craniofacial syndrome' SubClassOf 'bearer_of' some 'rare' 'deafness-craniofacial syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007422 keratoderma hereditarium mutilans 'keratoderma hereditarium mutilans' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0007421 deafness-ear malformation-facial palsy syndrome 'deafness-ear malformation-facial palsy syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-ear malformation-facial palsy syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007432 cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 'cerebral arteriopathy with subcortical infarcts and leukoencephalopathy' SubClassOf 'cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0019418 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 'X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0019414 BRESEK syndrome 'BRESEK syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'BRESEK syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'BRESEK syndrome' SubClassOf 'congenital nervous system disorder' 'BRESEK syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'BRESEK syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019416 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 'X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0019429 X-linked neurodegenerative syndrome, Hamel type 'X-linked neurodegenerative syndrome, Hamel type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019428 fried syndrome 'fried syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'fried syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' 'fried syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'fried syndrome' SubClassOf 'congenital nervous system disorder' 'fried syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0019427 X-linked neurodegenerative syndrome, Bertini type 'X-linked neurodegenerative syndrome, Bertini type' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0019422 X-linked intellectual disability, Stevenson type 'X-linked intellectual disability, Stevenson type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0019423 X-linked intellectual disability, Stoll type 'X-linked intellectual disability, Stoll type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0019420 X-linked intellectual disability, Pai type 'X-linked intellectual disability, Pai type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0007450 neurohypophyseal diabetes insipidus 'neurohypophyseal diabetes insipidus' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007461 short stature-valvular heart disease-characteristic facies syndrome 'short stature-valvular heart disease-characteristic facies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short stature-valvular heart disease-characteristic facies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short stature-valvular heart disease-characteristic facies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020428 congenital Gerbode defect 'congenital Gerbode defect' SubClassOf 'has modifier' some 'congenital' 'congenital Gerbode defect' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0020427 Laubry-Pezzi syndrome 'Laubry-Pezzi syndrome' SubClassOf 'has modifier' some 'has an isolated presentation' 'Laubry-Pezzi syndrome' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0007477 3-M syndrome '3-M syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '3-M syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007473 Duane retraction syndrome 'Duane retraction syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0019471 adult T-cell leukemia/lymphoma 'adult T-cell leukemia/lymphoma' SubClassOf 'deltaretrovirus infections' 'adult T-cell leukemia/lymphoma' SubClassOf 'Deltaretrovirus Infections' http://purl.obolibrary.org/obo/MONDO_0007482 dyschondrosteosis-nephritis syndrome 'dyschondrosteosis-nephritis syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'dyschondrosteosis-nephritis syndrome' SubClassOf 'syndromic urogenital tract malformation' 'dyschondrosteosis-nephritis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020477 progeria-associated arthropathy 'progeria-associated arthropathy' SubClassOf 'has modifier' some 'rare' 'progeria-associated arthropathy' SubClassOf 'material entity' 'progeria-associated arthropathy' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0007495 dystonia 5 'dystonia 5' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0020470 49,XYYYY syndrome '49,XYYYY syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' '49,XYYYY syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020463 isolated congenital ectropion 'isolated congenital ectropion' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated congenital ectropion' EquivalentTo 'congenital ectropion' and ('has modifier' some 'has an isolated presentation') 'isolated congenital ectropion' EquivalentTo 'congenital ectropion' and ('bearer_of' some 'has an isolated presentation') 'isolated congenital ectropion' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0020460 acquired von willebrand syndrome 'acquired von willebrand syndrome' EquivalentTo 'von Willebrand disease (hereditary or acquired)' and ('has modifier' some 'acquired') 'acquired von willebrand syndrome' EquivalentTo 'von Willebrand disease (hereditary or acquired)' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0020469 48,XYYY syndrome '48,XYYY syndrome' SubClassOf 'genetic nervous system disorder' '48,XYYY syndrome' SubClassOf 'syndromic intellectual disability' '48,XYYY syndrome' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0020467 mosaic monosomy X 'mosaic monosomy X' SubClassOf 'has modifier' some 'mosaic' 'mosaic monosomy X' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0020490 mosaic trisomy 9 'mosaic trisomy 9' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 9' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0020497 Turcot syndrome with polyposis 'Turcot syndrome with polyposis' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0020496 familial porencephaly 'familial porencephaly' EquivalentTo 'porencephaly' and ('has modifier' some 'inherited') 'familial porencephaly' SubClassOf 'genetic disorder' 'familial porencephaly' EquivalentTo 'porencephaly' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020493 Haddad syndrome 'Haddad syndrome' SubClassOf 'has modifier' some 'rare' 'Haddad syndrome' SubClassOf 'bearer_of' some 'rare' 'Haddad syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019499 Turner syndrome 'Turner syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Turner syndrome' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0019497 nonsyndromic genetic hearing loss 'nonsyndromic genetic hearing loss' SubClassOf 'has modifier' some 'has an isolated presentation' 'nonsyndromic genetic hearing loss' EquivalentTo 'hearing loss' and ('has modifier' some 'has an isolated presentation') and ('has modifier' some 'inherited') 'nonsyndromic genetic hearing loss' SubClassOf 'bearer_of' some 'has an isolated presentation' 'nonsyndromic genetic hearing loss' SubClassOf 'bearer_of' some 'rare' 'nonsyndromic genetic hearing loss' EquivalentTo 'hearing loss' and ('bearer_of' some 'has an isolated presentation') and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0020485 King-Denborough syndrome 'King-Denborough syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'King-Denborough syndrome' SubClassOf 'congenital nervous system disorder' 'King-Denborough syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009903 postaxial acrofacial dysostosis 'postaxial acrofacial dysostosis' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'postaxial acrofacial dysostosis' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009901 Bartsocas-Papas syndrome 'Bartsocas-Papas syndrome' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0009900 polysyndactyly-cardiac malformation syndrome 'polysyndactyly-cardiac malformation syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'polysyndactyly-cardiac malformation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'polysyndactyly-cardiac malformation syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009916 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'has modifier' some 'rare' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'genetic infertility' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'bearer_of' some 'rare' '46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009910 Wiedemann-Rautenstrauch syndrome 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Wiedemann-Rautenstrauch syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009928 pulmonary alveolar microlithiasis 'pulmonary alveolar microlithiasis' SubClassOf 'has modifier' some 'rare' 'pulmonary alveolar microlithiasis' SubClassOf 'genetic disorder' 'pulmonary alveolar microlithiasis' SubClassOf 'bearer_of' some 'rare' 'pulmonary alveolar microlithiasis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009926 autosomal recessive multiple pterygium syndrome 'autosomal recessive multiple pterygium syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'autosomal recessive multiple pterygium syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009925 autosomal recessive inherited pseudoxanthoma elasticum 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'genetic skin disease' 'autosomal recessive inherited pseudoxanthoma elasticum' SubClassOf 'genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0009923 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'has modifier' some 'rare' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'genetic infertility' '46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009929 neonatal acute respiratory distress due to SP-B deficiency 'neonatal acute respiratory distress due to SP-B deficiency' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0009933 congenital pulmonary lymphangiectasia 'congenital pulmonary lymphangiectasia' SubClassOf 'has modifier' some 'congenital' 'congenital pulmonary lymphangiectasia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010925 velo-facial-skeletal syndrome 'velo-facial-skeletal syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'velo-facial-skeletal syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'velo-facial-skeletal syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001838 renal nutcracker syndrome 'renal nutcracker syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'renal nutcracker syndrome' SubClassOf 'bearer_of' some 'rare' 'renal nutcracker syndrome' SubClassOf 'kidney disease' 'renal nutcracker syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0009945 pyridoxine-dependent epilepsy 'pyridoxine-dependent epilepsy' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0010930 anophthalmia plus syndrome 'anophthalmia plus syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anophthalmia plus syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anophthalmia plus syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0009959 peroxisome biogenesis disorder type 3B 'peroxisome biogenesis disorder type 3B' SubClassOf 'has modifier' some 'non-classic presentation' 'peroxisome biogenesis disorder type 3B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0009958 adult Refsum disease 'adult Refsum disease' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009955 rapadilino syndrome 'rapadilino syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'rapadilino syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009953 leukocyte adhesion deficiency type II 'leukocyte adhesion deficiency type II' SubClassOf 'congenital nervous system disorder' 'leukocyte adhesion deficiency type II' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0009952 radioulnar synostosis-developmental delay-hypotonia syndrome 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'radioulnar synostosis-developmental delay-hypotonia syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009950 pyruvate kinase deficiency of red cells 'pyruvate kinase deficiency of red cells' SubClassOf 'pyruvate metabolism disorder' 'pyruvate kinase deficiency of red cells' SubClassOf 'disorder of glycolysis' http://www.ebi.ac.uk/efo/EFO_1001856 Susac Syndrome 'Susac Syndrome' SubClassOf 'disorder of central nervous system or retinal vasculature' 'Susac Syndrome' SubClassOf 'has modifier' some 'rare' 'Susac Syndrome' SubClassOf 'autoimmune disorder of cardiovascular system' 'Susac Syndrome' SubClassOf 'bearer_of' some 'rare' 'Susac Syndrome' SubClassOf 'type II hypersensitivity reaction disease' http://purl.obolibrary.org/obo/MONDO_0009969 renal-genital-middle ear anomalies 'renal-genital-middle ear anomalies' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0009966 NPHP3-related Meckel-like syndrome 'NPHP3-related Meckel-like syndrome' SubClassOf 'genetic nervous system disorder' 'NPHP3-related Meckel-like syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0009965 Perlman syndrome 'Perlman syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007301 cerebrocostomandibular syndrome 'cerebrocostomandibular syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'cerebrocostomandibular syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0009964 short-rib thoracic dysplasia 9 with or without polydactyly 'short-rib thoracic dysplasia 9 with or without polydactyly' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100509 http://purl.obolibrary.org/obo/MONDO_0009963 Ulbright-Hodes syndrome 'Ulbright-Hodes syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Ulbright-Hodes syndrome' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0010952 hereditary hyperferritinemia with congenital cataracts 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'syndromic cataract' 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'has modifier' some 'congenital' 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'eye disease' 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'bearer_of' some 'congenital' 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'material entity' 'hereditary hyperferritinemia with congenital cataracts' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0010959 van den Ende-Gupta syndrome 'van den Ende-Gupta syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'van den Ende-Gupta syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001868 congenital contractures of the limbs and face, hypotonia, and developmental delay 'congenital contractures of the limbs and face, hypotonia, and developmental delay' SubClassOf 'has modifier' some 'congenital' 'congenital contractures of the limbs and face, hypotonia, and developmental delay' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007318 Alagille syndrome 'Alagille syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alagille syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Alagille syndrome' SubClassOf 'syndromic urogenital tract malformation' 'Alagille syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Alagille syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0007316 Chiari malformation type I 'Chiari malformation type I' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007315 cherubism 'cherubism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cherubism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009974 familial hemophagocytic lymphohistiocytosis type 1 'familial hemophagocytic lymphohistiocytosis type 1' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007311 Charcot-Marie-Tooth disease type 1E 'Charcot-Marie-Tooth disease type 1E' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0009970 renal tubular dysgenesis of genetic origin 'renal tubular dysgenesis of genetic origin' EquivalentTo 'renal tubular dysgenesis' and ('has modifier' some 'inherited') 'renal tubular dysgenesis of genetic origin' EquivalentTo 'renal tubular dysgenesis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0007329 cirrhosis, familial 'cirrhosis, familial' EquivalentTo 'cirrhosis of liver' and ('has modifier' some 'inherited') 'cirrhosis, familial' EquivalentTo 'cirrhosis of liver' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010977 Brody myopathy 'Brody myopathy' SubClassOf 'non-dystrophic myopathy' 'Brody myopathy' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome 'retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome' SubClassOf 'syndromic genetic hearing loss' http://www.ebi.ac.uk/efo/EFO_0001416 cervical adenocarcinoma 'cervical adenocarcinoma' SubClassOf 'adenocarcinoma of cervix uteri' 'cervical adenocarcinoma' SubClassOf 'bearer_of' some 'rare' 'cervical adenocarcinoma' SubClassOf 'adenocarcinoma' 'cervical adenocarcinoma' SubClassOf 'material entity' 'cervical adenocarcinoma' SubClassOf 'cervical carcinoma' http://purl.obolibrary.org/obo/MONDO_0010971 infundibulopelvic stenosis-multicystic kidney syndrome 'infundibulopelvic stenosis-multicystic kidney syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'infundibulopelvic stenosis-multicystic kidney syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome 'hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome' SubClassOf 'bearer_of' some 'rare' 'hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0019303 premature aging syndrome 'premature aging syndrome' SubClassOf 'has modifier' some 'rare' 'premature aging syndrome' SubClassOf 'bearer_of' some 'rare' 'premature aging syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0007339 blepharocheilodontic syndrome 'blepharocheilodontic syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'blepharocheilodontic syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007336 isolated cleft palate 'isolated cleft palate' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated cleft palate' EquivalentTo 'cleft palate' and ('has modifier' some 'has an isolated presentation') 'isolated cleft palate' EquivalentTo 'cleft palate' and ('bearer_of' some 'has an isolated presentation') 'isolated cleft palate' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0007337 cleft palate-lateral synechia syndrome 'cleft palate-lateral synechia syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'cleft palate-lateral synechia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cleft palate-lateral synechia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0009998 Richieri Costa-Pereira syndrome 'Richieri Costa-Pereira syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Richieri Costa-Pereira syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0007334 autosomal dominant popliteal pterygium syndrome 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'autosomal dominant disease' 'autosomal dominant popliteal pterygium syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0010988 aplasia cutis-myopia syndrome 'aplasia cutis-myopia syndrome' SubClassOf 'syndromic myopia' http://purl.obolibrary.org/obo/MONDO_0007330 congenital pseudoarthrosis of clavicle 'congenital pseudoarthrosis of clavicle' SubClassOf 'has modifier' some 'congenital' 'congenital pseudoarthrosis of clavicle' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0010981 absent tibia-polydactyly-arachnoid cyst syndrome 'absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf 'dysostosis of genetic origin' 'absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf 'dysostosis' 'absent tibia-polydactyly-arachnoid cyst syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0010983 dystonia 9 'dystonia 9' SubClassOf 'disorder of carbohydrate absorption and transport' http://purl.obolibrary.org/obo/MONDO_0019311 woolly hair nevus 'woolly hair nevus' SubClassOf 'genetic epidermal appendage anomaly' http://purl.obolibrary.org/obo/MONDO_0019313 lymphatic malformation 'lymphatic malformation' EquivalentTo 'lymphedema' and ('has modifier' some 'inherited') 'lymphatic malformation' EquivalentTo 'lymphedema' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0010997 supranuclear palsy, progressive, 1 'supranuclear palsy, progressive, 1' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0007346 cochleosaccular degeneration-cataract syndrome 'cochleosaccular degeneration-cataract syndrome' SubClassOf 'autosomal dominant cataract' 'cochleosaccular degeneration-cataract syndrome' SubClassOf 'syndromic genetic hearing loss' 'cochleosaccular degeneration-cataract syndrome' SubClassOf 'syndromic disease' 'cochleosaccular degeneration-cataract syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0010998 ALG3-CDG 'ALG3-CDG' SubClassOf 'neurometabolic disease' 'ALG3-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0034976 iatrogenic Creutzfeldt-Jakob disease 'iatrogenic Creutzfeldt-Jakob disease' EquivalentTo 'acquired Creutzfeldt-Jakob disease' and ('has modifier' some 'iatrogenic') 'iatrogenic Creutzfeldt-Jakob disease' EquivalentTo 'acquired Creutzfeldt-Jakob disease' and ('bearer_of' some 'iatrogenic') http://purl.obolibrary.org/obo/MONDO_0007354 coloboma of optic nerve 'coloboma of optic nerve' SubClassOf 'genetic nervous system disorder' 'coloboma of optic nerve' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0044303 congenital heart defects and ectodermal dysplasia 'congenital heart defects and ectodermal dysplasia' SubClassOf 'has modifier' some 'congenital' 'congenital heart defects and ectodermal dysplasia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0007355 uveal coloboma-cleft lip and palate-intellectual disability 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'genetic otorhinolaryngologic disease' 'uveal coloboma-cleft lip and palate-intellectual disability' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0007352 renal coloboma syndrome 'renal coloboma syndrome' SubClassOf 'syndromic urogenital tract malformation' 'renal coloboma syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'renal coloboma syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0044304 hyperphenylalaninemia due to DNAJC12 deficiency 'hyperphenylalaninemia due to DNAJC12 deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0044306 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf 'syndromic cataract' 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0007369 hereditary coproporphyria 'hereditary coproporphyria' SubClassOf 'inherited porphyria' 'hereditary coproporphyria' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800180 http://purl.obolibrary.org/obo/MONDO_0019349 Sotos syndrome 'Sotos syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Sotos syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Sotos syndrome' SubClassOf 'syndromic disease' 'Sotos syndrome' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0044318 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'neurodevelopmental disorder' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'has modifier' some 'rare' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'bearer_of' some 'rare' 'intellectual developmental disorder with gastrointestinal difficulties and high pain threshold' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0019346 sialidosis type 1 'sialidosis type 1' SubClassOf 'neurometabolic disease' 'sialidosis type 1' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0001361 pulmonary arterial hypertension 'pulmonary arterial hypertension' SubClassOf 'has modifier' some 'rare' 'pulmonary arterial hypertension' SubClassOf 'bearer_of' some 'rare' 'pulmonary arterial hypertension' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0007376 fleck corneal dystrophy 'fleck corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007374 Schnyder corneal dystrophy 'Schnyder corneal dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007381 epithelial recurrent erosion dystrophy 'epithelial recurrent erosion dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0007382 Ramos-Arroyo syndrome 'Ramos-Arroyo syndrome' SubClassOf 'syndromic genetic hearing loss' 'Ramos-Arroyo syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0020359 congenital symblepharon 'congenital symblepharon' SubClassOf 'has modifier' some 'congenital' 'congenital symblepharon' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0019356 urogenital tract malformation 'urogenital tract malformation' SubClassOf 'has modifier' some 'rare' 'urogenital tract malformation' SubClassOf 'bearer_of' some 'rare' 'urogenital tract malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019358 encephalopathy due to sulfite oxidase deficiency 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'lens position anomaly' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'cerebral organic aciduria' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'neurometabolic disease' 'encephalopathy due to sulfite oxidase deficiency' SubClassOf 'lens disease' http://purl.obolibrary.org/obo/MONDO_0019351 isolated spina bifida 'isolated spina bifida' EquivalentTo 'spina bifida' and ('has modifier' some 'has an isolated presentation') 'isolated spina bifida' EquivalentTo 'spina bifida' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0019354 Stickler syndrome 'Stickler syndrome' SubClassOf 'syndromic myopia' 'Stickler syndrome' SubClassOf 'syndromic genetic hearing loss' 'Stickler syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0020341 periventricular nodular heterotopia 'periventricular nodular heterotopia' SubClassOf 'genetic nervous system disorder' 'periventricular nodular heterotopia' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0001356 familial amyotrophic lateral sclerosis 'familial amyotrophic lateral sclerosis' EquivalentTo 'amyotrophic lateral sclerosis' and ('has modifier' some 'inherited') 'familial amyotrophic lateral sclerosis' EquivalentTo 'amyotrophic lateral sclerosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0019366 free sialic acid storage disease 'free sialic acid storage disease' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0007395 craniofacial-deafness-hand syndrome 'craniofacial-deafness-hand syndrome' SubClassOf 'syndromic genetic hearing loss' 'craniofacial-deafness-hand syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'craniofacial-deafness-hand syndrome' SubClassOf 'congenital nervous system disorder' 'craniofacial-deafness-hand syndrome' SubClassOf 'bearer_of' some 'rare' 'craniofacial-deafness-hand syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0044349 acquired hemoglobinopathy 'acquired hemoglobinopathy' EquivalentTo 'hemoglobinopathy' and ('has modifier' some 'acquired') 'acquired hemoglobinopathy' SubClassOf 'has modifier' some 'acquired' 'acquired hemoglobinopathy' EquivalentTo 'hemoglobinopathy' and ('bearer_of' some 'acquired') 'acquired hemoglobinopathy' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0019374 CAMOS syndrome 'CAMOS syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0019391 Fanconi anemia 'Fanconi anemia' SubClassOf 'genetic skin disease' 'Fanconi anemia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Fanconi anemia' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0020366 congenital glaucoma 'congenital glaucoma' SubClassOf 'has modifier' some 'congenital' 'congenital glaucoma' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0001379 endocrine system disease 'endocrine system disease' SubClassOf 'disease' 'endocrine system disease' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0019388 pelvis syndrome 'pelvis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'pelvis syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001809 Marchiafava-Bignami Disease 'Marchiafava-Bignami Disease' SubClassOf 'has modifier' some 'rare' 'Marchiafava-Bignami Disease' SubClassOf 'bearer_of' some 'rare' 'Marchiafava-Bignami Disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome 'macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf 'bearer_of' some 'rare' 'macrostomia-preauricular tags-external ophthalmoplegia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://www.ebi.ac.uk/efo/EFO_1001808 manganese poisoning 'manganese poisoning' SubClassOf 'has modifier' some 'rare' 'manganese poisoning' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019386 progressive rubella panencephalitis 'progressive rubella panencephalitis' SubClassOf 'has modifier' some 'acquired' 'progressive rubella panencephalitis' SubClassOf 'bearer_of' some 'acquired' http://www.ebi.ac.uk/efo/EFO_1001807 malacoplakia 'malacoplakia' SubClassOf 'has modifier' some 'rare' 'malacoplakia' SubClassOf 'bearer_of' some 'rare' 'malacoplakia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0020398 congenital mitral stenosis 'congenital mitral stenosis' EquivalentTo 'mitral valve stenosis' and ('has modifier' some 'inherited') 'congenital mitral stenosis' EquivalentTo 'mitral valve stenosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0044324 Al Kaissi syndrome 'Al Kaissi syndrome' SubClassOf 'has modifier' some 'rare' 'Al Kaissi syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0044326 developmental delay and seizures with or without movement abnormalities 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'has modifier' some 'rare' 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'neurodevelopmental disorder' 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'Neurodevelopmental disorder' 'developmental delay and seizures with or without movement abnormalities' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_1001810 mercury poisoning 'mercury poisoning' SubClassOf 'has modifier' some 'rare' 'mercury poisoning' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0020385 congenitally uncorrected transposition of the great arteries with coarctation 'congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'has modifier' some 'congenital' 'congenitally uncorrected transposition of the great arteries with coarctation' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0044331 genetic transient congenital hypothyroidism 'genetic transient congenital hypothyroidism' EquivalentTo 'transient congenital hypothyroidism' and ('has modifier' some 'inherited') 'genetic transient congenital hypothyroidism' SubClassOf 'genetic disorder' 'genetic transient congenital hypothyroidism' SubClassOf 'transient congenital hypothyroidism due to neonatal factor' 'genetic transient congenital hypothyroidism' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015650 epilepsy syndrome 'epilepsy syndrome' SubClassOf 'has modifier' some 'rare' 'epilepsy syndrome' SubClassOf 'material entity' 'epilepsy syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013003 isolated congenital hypoglossia/aglossia 'isolated congenital hypoglossia/aglossia' SubClassOf 'has modifier' some 'congenital' 'isolated congenital hypoglossia/aglossia' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0013005 EAST syndrome 'EAST syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0013000 porphyria due to ALA dehydratase deficiency 'porphyria due to ALA dehydratase deficiency' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0013014 spondyloepimetaphyseal dysplasia, aggrecan type 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, aggrecan type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0015682 primary peritoneal tumor 'primary peritoneal tumor' SubClassOf 'has modifier' some 'rare' 'primary peritoneal tumor' SubClassOf 'material entity' 'primary peritoneal tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015681 childhood disintegrative disorder 'childhood disintegrative disorder' SubClassOf 'has modifier' some 'rare' 'childhood disintegrative disorder' SubClassOf 'material entity' 'childhood disintegrative disorder' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013038 CLOVES syndrome 'CLOVES syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0035162 http://purl.obolibrary.org/obo/MONDO_0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 'glycogen storage disease due to lactate dehydrogenase M-subunit deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0013046 glycogen storage disease due to muscle beta-enolase deficiency 'glycogen storage disease due to muscle beta-enolase deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0013049 DPM3-CDG 'DPM3-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013050 lethal polymalformative syndrome, Boissel type 'lethal polymalformative syndrome, Boissel type' SubClassOf 'lethal multiple congenital anomalies/dysmorphic syndrome' 'lethal polymalformative syndrome, Boissel type' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013053 microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'bearer_of' some 'rare' 'microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013069 autosomal recessive optic atrophy, OPA7 type 'autosomal recessive optic atrophy, OPA7 type' SubClassOf 'syndromic hereditary optic neuropathy' 'autosomal recessive optic atrophy, OPA7 type' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0013090 chromosome 19q13.11 deletion syndrome 'chromosome 19q13.11 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 19q13.11 deletion syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013099 combined pituitary hormone deficiencies, genetic form 'combined pituitary hormone deficiencies, genetic form' SubClassOf 'genetic nervous system disorder' 'combined pituitary hormone deficiencies, genetic form' EquivalentTo 'hypopituitarism' and ('has modifier' some 'inherited') 'combined pituitary hormone deficiencies, genetic form' EquivalentTo 'hypopituitarism' and ('bearer_of' some 'inherited') http://www.orpha.net/ORDO/Orphanet_137608 Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus 'Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus' SubClassOf 'genetic skin disease' http://www.orpha.net/ORDO/Orphanet_52368 Mohr-Tranebjaerg syndrome 'Mohr-Tranebjaerg syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'Mohr-Tranebjaerg syndrome' SubClassOf 'hereditary optic neuropathy' http://www.ebi.ac.uk/efo/EFO_0006513 hereditary hemochromatosis type 1 'hereditary hemochromatosis type 1' SubClassOf 'has modifier' some 'not rare' 'hereditary hemochromatosis type 1' SubClassOf 'bearer_of' some 'not rare' http://purl.obolibrary.org/obo/MONDO_0015706 mosaic trisomy 1 'mosaic trisomy 1' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 1' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015718 mosaic trisomy 12 'mosaic trisomy 12' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 12' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015713 idiopathic central precocious puberty 'idiopathic central precocious puberty' EquivalentTo 'central precocious puberty' and ('has modifier' some 'idiopathic') 'idiopathic central precocious puberty' SubClassOf 'central precocious puberty' 'idiopathic central precocious puberty' SubClassOf 'Central precocious puberty' 'idiopathic central precocious puberty' EquivalentTo 'Central precocious puberty' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0015729 mosaic trisomy 16 'mosaic trisomy 16' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 16' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015727 mosaic trisomy 15 'mosaic trisomy 15' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 15' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015725 mosaic trisomy 14 'mosaic trisomy 14' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 14' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015723 trisomy 12p 'trisomy 12p' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015730 mosaic trisomy 17 'mosaic trisomy 17' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 17' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015736 intermediate nemaline myopathy 'intermediate nemaline myopathy' SubClassOf 'nemaline myopathy' http://purl.obolibrary.org/obo/MONDO_0015745 microcephaly-polymicrogyria-corpus callosum agenesis syndrome 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'genetic nervous system disorder' 'microcephaly-polymicrogyria-corpus callosum agenesis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001115 familial polycythemia 'familial polycythemia' EquivalentTo 'polycythemia' and ('has modifier' some 'inherited') 'familial polycythemia' EquivalentTo 'polycythemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015752 intellectual disability-cataracts-kyphosis syndrome 'intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'syndromic cataract' 'intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-cataracts-kyphosis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0003789 hereditary papillary renal cell carcinoma 'hereditary papillary renal cell carcinoma' EquivalentTo 'papillary renal cell carcinoma' and ('has modifier' some 'inherited') 'hereditary papillary renal cell carcinoma' EquivalentTo 'papillary renal cell carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015764 mosaic trisomy 20 'mosaic trisomy 20' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 20' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015763 mosaic trisomy 2 'mosaic trisomy 2' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 2' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015542 secondary hemophagocytic lymphohistiocytosis 'secondary hemophagocytic lymphohistiocytosis' SubClassOf 'has modifier' some 'acquired' 'secondary hemophagocytic lymphohistiocytosis' EquivalentTo 'hemophagocytic syndrome' and ('has modifier' some 'acquired') 'secondary hemophagocytic lymphohistiocytosis' SubClassOf 'bearer_of' some 'acquired' 'secondary hemophagocytic lymphohistiocytosis' EquivalentTo 'hemophagocytic syndrome' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0015547 genetic dementia 'genetic dementia' EquivalentTo 'dementia' and ('has modifier' some 'inherited') 'genetic dementia' SubClassOf 'genetic nervous system disorder' 'genetic dementia' EquivalentTo 'dementia' and ('bearer_of' some 'inherited') 'genetic dementia' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015541 genetic hemophagocytic lymphohistiocytosis 'genetic hemophagocytic lymphohistiocytosis' EquivalentTo 'hemophagocytic syndrome' and ('has modifier' some 'inherited') 'genetic hemophagocytic lymphohistiocytosis' EquivalentTo 'hemophagocytic syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015540 hemophagocytic syndrome 'hemophagocytic syndrome' SubClassOf 'has modifier' some 'rare' 'hemophagocytic syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0003582 hereditary breast ovarian cancer syndrome 'hereditary breast ovarian cancer syndrome' SubClassOf 'familial ovarian cancer' 'hereditary breast ovarian cancer syndrome' SubClassOf 'malignant epithelial tumor of ovary' 'hereditary breast ovarian cancer syndrome' SubClassOf 'hereditary breast carcinoma' http://purl.obolibrary.org/obo/MONDO_0015567 cataract-glaucoma syndrome 'cataract-glaucoma syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0015564 Castleman disease 'Castleman disease' SubClassOf 'post-infectious syndrome' http://purl.obolibrary.org/obo/MONDO_0015574 chronic cutaneous lupus erythematosus 'chronic cutaneous lupus erythematosus' SubClassOf 'has modifier' some 'rare' 'chronic cutaneous lupus erythematosus' SubClassOf 'bearer_of' some 'rare' 'chronic cutaneous lupus erythematosus' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015587 rolandic epilepsy-speech dyspraxia syndrome 'rolandic epilepsy-speech dyspraxia syndrome' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0040566 inherited glutathione metabolism disease 'inherited glutathione metabolism disease' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100473 http://purl.obolibrary.org/obo/MONDO_0015607 partial chromosome Y deletion 'partial chromosome Y deletion' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0015609 advanced sleep phase syndrome 'advanced sleep phase syndrome' SubClassOf 'genetic nervous system disorder' 'advanced sleep phase syndrome' SubClassOf 'genetic disorder' 'advanced sleep phase syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015619 non-syndromic urogenital tract malformation 'non-syndromic urogenital tract malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic urogenital tract malformation' EquivalentTo 'urogenital tract malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic urogenital tract malformation' EquivalentTo 'urogenital tract malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic urogenital tract malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0003646 rectum neuroendocrine neoplasm 'rectum neuroendocrine neoplasm' SubClassOf 'has modifier' some 'rare' 'rectum neuroendocrine neoplasm' SubClassOf 'bearer_of' some 'rare' 'rectum neuroendocrine neoplasm' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015620 syndromic urogenital tract malformation 'syndromic urogenital tract malformation' EquivalentTo 'urogenital tract malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic urogenital tract malformation' EquivalentTo 'urogenital tract malformation' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015632 FASTKD2-related infantile mitochondrial encephalomyopathy 'FASTKD2-related infantile mitochondrial encephalomyopathy' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0015635 porokeratotic eccrine ostial and dermal duct nevus 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'has modifier' some 'rare' 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'material entity' 'porokeratotic eccrine ostial and dermal duct nevus' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015634 isolated osteopoikilosis 'isolated osteopoikilosis' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated osteopoikilosis' EquivalentTo 'osteopoikilosis' and ('has modifier' some 'has an isolated presentation') 'isolated osteopoikilosis' EquivalentTo 'osteopoikilosis' and ('bearer_of' some 'has an isolated presentation') 'isolated osteopoikilosis' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015436 ring chromosome 20 'ring chromosome 20' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015431 ring chromosome 10 'ring chromosome 10' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0004190 open-angle glaucoma 'open-angle glaucoma' SubClassOf 'glaucoma' 'open-angle glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005041 http://purl.obolibrary.org/obo/MONDO_0015454 multiple carboxylase deficiency 'multiple carboxylase deficiency' SubClassOf 'genetic skin disease' 'multiple carboxylase deficiency' SubClassOf 'has modifier' some 'rare' 'multiple carboxylase deficiency' SubClassOf 'bearer_of' some 'rare' 'multiple carboxylase deficiency' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0015458 intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015452 Coffin-Siris syndrome 'Coffin-Siris syndrome' SubClassOf 'genetic nervous system disorder' 'Coffin-Siris syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015474 cryptosporidiosis 'cryptosporidiosis' SubClassOf 'has modifier' some 'rare' 'cryptosporidiosis' SubClassOf 'material entity' 'cryptosporidiosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015486 keratoconus 'keratoconus' SubClassOf 'has modifier' some 'rare' 'keratoconus' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015492 Anti-neutrophil cytoplasmic antibody-associated vasculitis 'Anti-neutrophil cytoplasmic antibody-associated vasculitis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800113 http://purl.obolibrary.org/obo/MONDO_0015494 isolated dystonia 'isolated dystonia' EquivalentTo 'dystonic disorder' and ('has modifier' some 'has an isolated presentation') 'isolated dystonia' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated dystonia' EquivalentTo 'dystonic disorder' and ('bearer_of' some 'has an isolated presentation') 'isolated dystonia' SubClassOf 'bearer_of' some 'has an isolated presentation' http://www.ebi.ac.uk/efo/EFO_0006792 Lewy body dementia 'Lewy body dementia' SubClassOf 'genetic dementia' 'Lewy body dementia' SubClassOf 'dementia' http://www.ebi.ac.uk/efo/EFO_0006790 cerebral amyloid angiopathy 'cerebral amyloid angiopathy' SubClassOf 'cerebral small vessel disease' http://purl.obolibrary.org/obo/MONDO_0015509 genetic biliary tract disease 'genetic biliary tract disease' SubClassOf 'has modifier' some 'rare' 'genetic biliary tract disease' EquivalentTo 'biliary tract disease' and ('has modifier' some 'inherited') 'genetic biliary tract disease' SubClassOf 'bearer_of' some 'rare' 'genetic biliary tract disease' EquivalentTo 'biliary tract disease' and ('bearer_of' some 'inherited') http://www.ebi.ac.uk/efo/EFO_0004126 Adie syndrome 'Adie syndrome' SubClassOf 'has modifier' some 'rare' 'Adie syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015508 genetic parenchymatous liver disease 'genetic parenchymatous liver disease' SubClassOf 'has modifier' some 'rare' 'genetic parenchymatous liver disease' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004128 hereditary nephritis 'hereditary nephritis' EquivalentTo 'nephritis' and ('has modifier' some 'inherited') 'hereditary nephritis' EquivalentTo 'nephritis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/UBERON_0007134 trunk ganglion 'trunk ganglion' SubClassOf 'part_of' some 'anatomical system' http://www.ebi.ac.uk/efo/EFO_0004152 chorea 'chorea' SubClassOf 'has modifier' some 'rare' 'chorea' SubClassOf 'material entity' 'chorea' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015512 genetic hypertension 'genetic hypertension' SubClassOf 'has modifier' some 'rare' 'genetic hypertension' EquivalentTo 'hypertension' and ('has modifier' some 'inherited') 'genetic hypertension' SubClassOf 'bearer_of' some 'rare' 'genetic hypertension' EquivalentTo 'hypertension' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015514 genetic endocrine growth disease 'genetic endocrine growth disease' SubClassOf 'has modifier' some 'rare' 'genetic endocrine growth disease' SubClassOf 'bearer_of' some 'rare' 'genetic endocrine growth disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015523 epithelioid hemangioendothelioma 'epithelioid hemangioendothelioma' SubClassOf 'has modifier' some 'rare' 'epithelioid hemangioendothelioma' SubClassOf 'material entity' 'epithelioid hemangioendothelioma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017953 hereditary periodic fever syndrome 'hereditary periodic fever syndrome' EquivalentTo 'periodic fever syndrome' and ('has modifier' some 'inherited') 'hereditary periodic fever syndrome' EquivalentTo 'periodic fever syndrome' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017950 microcephalic primordial dwarfism 'microcephalic primordial dwarfism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephalic primordial dwarfism' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0003321 hereditary Wilms tumor 'hereditary Wilms tumor' EquivalentTo 'Wilms tumor' and ('has modifier' some 'inherited') 'hereditary Wilms tumor' EquivalentTo 'Wilms tumor' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015308 laminopathy type Decaudain-Vigouroux 'laminopathy type Decaudain-Vigouroux' SubClassOf 'has modifier' some 'rare' 'laminopathy type Decaudain-Vigouroux' SubClassOf 'bearer_of' some 'rare' 'laminopathy type Decaudain-Vigouroux' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017966 46,XY disorder of gonadal development '46,XY disorder of gonadal development' SubClassOf 'has modifier' some 'rare' '46,XY disorder of gonadal development' SubClassOf 'material entity' '46,XY disorder of gonadal development' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015300 cataract - microcornea syndrome 'cataract - microcornea syndrome' SubClassOf 'syndromic cataract' 'cataract - microcornea syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017962 46,XX disorder of sex development induced by fetoplacental androgens excess '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'has modifier' some 'rare' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'material entity' '46,XX disorder of sex development induced by fetoplacental androgens excess' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017961 46,XX disorder of gonadal development '46,XX disorder of gonadal development' SubClassOf 'has modifier' some 'rare' '46,XX disorder of gonadal development' SubClassOf 'material entity' '46,XX disorder of gonadal development' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017979 autoimmune lymphoproliferative syndrome 'autoimmune lymphoproliferative syndrome' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 'non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has modifier' some 'congenital' 'non-classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017975 sex chromosome disorder of sex development 'sex chromosome disorder of sex development' SubClassOf 'has modifier' some 'rare' 'sex chromosome disorder of sex development' SubClassOf 'bearer_of' some 'rare' 'sex chromosome disorder of sex development' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency 'classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'has modifier' some 'congenital' 'classic congenital lipoid adrenal hyperplasia due to STAR deficency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015325 cataract-deafness-hypogonadism syndrome 'cataract-deafness-hypogonadism syndrome' SubClassOf 'syndromic genetic hearing loss' 'cataract-deafness-hypogonadism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015324 cataract-intellectual disability-anal atresia-urinary defects syndrome 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'genetic nervous system disorder' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'cataract-intellectual disability-anal atresia-urinary defects syndrome' SubClassOf 'syndromic cataract' http://purl.obolibrary.org/obo/MONDO_0017985 congenital radioulnar synostosis 'congenital radioulnar synostosis' SubClassOf 'has modifier' some 'congenital' 'congenital radioulnar synostosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015326 night blindness-skeletal anomalies-dysmorphism syndrome 'night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'night blindness-skeletal anomalies-dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017999 fatty acid hydroxylase-associated neurodegeneration 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'eye degenerative disorder' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'syndromic hereditary optic neuropathy' 'fatty acid hydroxylase-associated neurodegeneration' SubClassOf 'facial paralysis' http://purl.obolibrary.org/obo/MONDO_0042966 inherited mitral valve disease 'inherited mitral valve disease' EquivalentTo 'mitral valve disease' and ('has modifier' some 'inherited') 'inherited mitral valve disease' EquivalentTo 'mitral valve disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'spondylocostal dysostosis-hypospadias-intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015338 syndromic craniosynostosis 'syndromic craniosynostosis' EquivalentTo 'craniosynostosis' and ('has modifier' some 'has a syndromic presentation') 'syndromic craniosynostosis' EquivalentTo 'craniosynostosis' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015337 isolated craniosynostosis 'isolated craniosynostosis' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated craniosynostosis' EquivalentTo 'craniosynostosis' and ('has modifier' some 'has an isolated presentation') 'isolated craniosynostosis' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated craniosynostosis' EquivalentTo 'craniosynostosis' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0017992 autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 'autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0015344 idiopathic acute transverse myelitis 'idiopathic acute transverse myelitis' EquivalentTo 'acute transverse myelitis' and ('has modifier' some 'idiopathic') 'idiopathic acute transverse myelitis' EquivalentTo 'acute transverse myelitis' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0042973 familial osteosclerosis 'familial osteosclerosis' EquivalentTo 'osteosclerosis' and ('has modifier' some 'inherited') 'familial osteosclerosis' EquivalentTo 'osteosclerosis' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015342 acute transverse myelitis 'acute transverse myelitis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0015356 hereditary neoplastic syndrome 'hereditary neoplastic syndrome' SubClassOf 'has modifier' some 'rare' 'hereditary neoplastic syndrome' SubClassOf 'neoplastic syndrome' http://purl.obolibrary.org/obo/MONDO_0015351 neuropathy with hearing impairment 'neuropathy with hearing impairment' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0015368 neuro-ophthalmological disease 'neuro-ophthalmological disease' SubClassOf 'has modifier' some 'rare' 'neuro-ophthalmological disease' SubClassOf 'material entity' 'neuro-ophthalmological disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015367 Charlie M syndrome 'Charlie M syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Charlie M syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015364 hereditary sensory and autonomic neuropathy 'hereditary sensory and autonomic neuropathy' EquivalentTo 'sensory peripheral neuropathy' and ('has modifier' some 'inherited') 'hereditary sensory and autonomic neuropathy' EquivalentTo 'sensory peripheral neuropathy' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015374 primary central nervous system vasculitis 'primary central nervous system vasculitis' SubClassOf 'genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0042982 GATA2 deficiency with susceptibility to MDS/AML 'GATA2 deficiency with susceptibility to MDS/AML' SubClassOf 'has modifier' some 'rare' 'GATA2 deficiency with susceptibility to MDS/AML' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015405 cerebrofacial arteriovenous metameric syndrome 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'neurovascular disorder' 'cerebrofacial arteriovenous metameric syndrome' SubClassOf 'nervous system benign neoplasm' http://purl.obolibrary.org/obo/MONDO_0003206 acquired hemangioma 'acquired hemangioma' EquivalentTo 'hemangioma' and ('has modifier' some 'acquired') 'acquired hemangioma' SubClassOf 'has modifier' some 'acquired' 'acquired hemangioma' SubClassOf 'material entity' 'acquired hemangioma' SubClassOf 'bearer_of' some 'acquired' 'acquired hemangioma' EquivalentTo 'hemangioma' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0017849 Siegler-Brewer-Carey syndrome 'Siegler-Brewer-Carey syndrome' SubClassOf 'has modifier' some 'rare' 'Siegler-Brewer-Carey syndrome' SubClassOf 'bearer_of' some 'rare' 'Siegler-Brewer-Carey syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017856 X-linked spasticity-intellectual disability-epilepsy syndrome 'X-linked spasticity-intellectual disability-epilepsy syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'X-linked spasticity-intellectual disability-epilepsy syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0017853 hypersensitivity pneumonitis 'hypersensitivity pneumonitis' SubClassOf 'has modifier' some 'rare' 'hypersensitivity pneumonitis' SubClassOf 'material entity' 'hypersensitivity pneumonitis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017851 erythrokeratodermia variabilis 'erythrokeratodermia variabilis' SubClassOf 'erythrokeratoderma variabilis progressiva' http://purl.obolibrary.org/obo/MONDO_0015209 non-syndromic gastroduodenal malformation 'non-syndromic gastroduodenal malformation' EquivalentTo 'gastroduodenal malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic gastroduodenal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic gastroduodenal malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic gastroduodenal malformation' EquivalentTo 'gastroduodenal malformation' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0017867 distal 17p13.1 microdeletion syndrome 'distal 17p13.1 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' 'distal 17p13.1 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017868 diencephalic-mesencephalic junction dysplasia 'diencephalic-mesencephalic junction dysplasia' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015208 syndromic esophageal malformation 'syndromic esophageal malformation' EquivalentTo 'esophageal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic esophageal malformation' EquivalentTo 'esophageal malformation' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015207 non-syndromic esophageal malformation 'non-syndromic esophageal malformation' EquivalentTo 'esophageal malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic esophageal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic esophageal malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic esophageal malformation' EquivalentTo 'esophageal malformation' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0015206 short stature-heart defect-craniofacial anomalies syndrome 'short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'has modifier' some 'rare' 'short stature-heart defect-craniofacial anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015215 non-syndromic diaphragmatic or abdominal wall malformation 'non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic diaphragmatic or abdominal wall malformation' EquivalentTo 'diaphragmatic or abdominal wall malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic diaphragmatic or abdominal wall malformation' EquivalentTo 'diaphragmatic or abdominal wall malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic diaphragmatic or abdominal wall malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015212 syndromic intestinal malformation 'syndromic intestinal malformation' EquivalentTo 'intestinal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic intestinal malformation' EquivalentTo 'intestinal malformation' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015219 non-syndromic central nervous system malformation 'non-syndromic central nervous system malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic central nervous system malformation' EquivalentTo 'central nervous system malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic central nervous system malformation' EquivalentTo 'central nervous system malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic central nervous system malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015217 non-syndromic developmental defect of the eye 'non-syndromic developmental defect of the eye' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic developmental defect of the eye' EquivalentTo 'developmental defect of the eye' and ('has modifier' some 'has an isolated presentation') 'non-syndromic developmental defect of the eye' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic developmental defect of the eye' EquivalentTo 'developmental defect of the eye' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0015216 syndromic diaphragmatic or abdominal wall malformation 'syndromic diaphragmatic or abdominal wall malformation' EquivalentTo 'diaphragmatic or abdominal wall malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic diaphragmatic or abdominal wall malformation' EquivalentTo 'diaphragmatic or abdominal wall malformation' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015211 non-syndromic intestinal malformation 'non-syndromic intestinal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic intestinal malformation' EquivalentTo 'intestinal malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic intestinal malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic intestinal malformation' EquivalentTo 'intestinal malformation' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0015210 syndromic gastroduodenal malformation 'syndromic gastroduodenal malformation' EquivalentTo 'gastroduodenal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic gastroduodenal malformation' EquivalentTo 'gastroduodenal malformation' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015225 arthrogryposis syndrome 'arthrogryposis syndrome' SubClassOf 'has modifier' some 'rare' 'arthrogryposis syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015229 Bardet-Biedl syndrome 'Bardet-Biedl syndrome' SubClassOf 'has modifier' some 'rare' 'Bardet-Biedl syndrome' SubClassOf 'has modifier' some 'congenital' 'Bardet-Biedl syndrome' SubClassOf 'bearer_of' some 'congenital' 'Bardet-Biedl syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015227 non-syndromic limb malformation 'non-syndromic limb malformation' SubClassOf 'has modifier' some 'rare' 'non-syndromic limb malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015222 syndromic respiratory or mediastinal malformation 'syndromic respiratory or mediastinal malformation' EquivalentTo 'respiratory or mediastinal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic respiratory or mediastinal malformation' SubClassOf 'has modifier' some 'rare' 'syndromic respiratory or mediastinal malformation' SubClassOf 'bearer_of' some 'rare' 'syndromic respiratory or mediastinal malformation' EquivalentTo 'respiratory or mediastinal malformation' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015221 non-syndromic respiratory or mediastinal malformation 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'has modifier' some 'rare' 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic respiratory or mediastinal malformation' EquivalentTo 'respiratory or mediastinal malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'material entity' 'non-syndromic respiratory or mediastinal malformation' EquivalentTo 'respiratory or mediastinal malformation' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'bearer_of' some 'has an isolated presentation' 'non-syndromic respiratory or mediastinal malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015235 arachnodactyly-intellectual disability-dysmorphism syndrome 'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'arachnodactyly-intellectual disability-dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017896 familial nonmedullary thyroid carcinoma 'familial nonmedullary thyroid carcinoma' SubClassOf 'has modifier' some 'rare' 'familial nonmedullary thyroid carcinoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015238 arrhinia-choanal atresia-microphthalmia syndrome 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'arrhinia-choanal atresia-microphthalmia syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017892 autosomal recessive myogenic arthrogryposis multiplex congenita 'autosomal recessive myogenic arthrogryposis multiplex congenita' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017893 inherited acute myeloid leukemia 'inherited acute myeloid leukemia' EquivalentTo 'acute myeloid leukemia' and ('has modifier' some 'inherited') 'inherited acute myeloid leukemia' EquivalentTo 'acute myeloid leukemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015233 caudal appendage-deafness syndrome 'caudal appendage-deafness syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'caudal appendage-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0015230 anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities 'neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities' SubClassOf 'genetic nervous system disorder' 'neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities' SubClassOf 'neurodevelopmental disorder' 'neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100500 http://purl.obolibrary.org/obo/MONDO_0015246 syndromic anorectal malformation 'syndromic anorectal malformation' EquivalentTo 'anorectal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic anorectal malformation' EquivalentTo 'anorectal malformation' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015240 digitotalar dysmorphism 'digitotalar dysmorphism' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'digitotalar dysmorphism' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0054865 encephalopathy due to mitochondrial and peroxisomal fission defect 'encephalopathy due to mitochondrial and peroxisomal fission defect' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0003274 thoracic cancer 'thoracic cancer' SubClassOf 'cancer' 'thoracic cancer' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0015256 blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome 'blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf 'has modifier' some 'rare' 'blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf 'material entity' 'blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015267 Feingold syndrome 'Feingold syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Feingold syndrome' SubClassOf 'intellectual disability, autosomal dominant' 'Feingold syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Feingold syndrome' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0015280 cardiofaciocutaneous syndrome 'cardiofaciocutaneous syndrome' SubClassOf 'genetic nervous system disorder' 'cardiofaciocutaneous syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015279 chronic mucocutaneous candidiasis 'chronic mucocutaneous candidiasis' SubClassOf 'genetic skin disease' 'chronic mucocutaneous candidiasis' SubClassOf 'has modifier' some 'rare' 'chronic mucocutaneous candidiasis' SubClassOf 'skin disease' 'chronic mucocutaneous candidiasis' SubClassOf 'bearer_of' some 'rare' 'chronic mucocutaneous candidiasis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015278 familial pancreatic carcinoma 'familial pancreatic carcinoma' EquivalentTo 'pancreatic carcinoma' and ('has modifier' some 'inherited') 'familial pancreatic carcinoma' SubClassOf 'has modifier' some 'rare' 'familial pancreatic carcinoma' SubClassOf 'bearer_of' some 'rare' 'familial pancreatic carcinoma' EquivalentTo 'pancreatic carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0015272 camptodactyly-taurinuria syndrome 'camptodactyly-taurinuria syndrome' SubClassOf 'has modifier' some 'rare' 'camptodactyly-taurinuria syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015284 heart-hand syndrome type 2 'heart-hand syndrome type 2' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'heart-hand syndrome type 2' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015286 congenital disorder of glycosylation 'congenital disorder of glycosylation' SubClassOf 'has modifier' some 'congenital' 'congenital disorder of glycosylation' SubClassOf 'bearer_of' some 'congenital' http://www.ebi.ac.uk/efo/EFO_0006903 hepatocyte growth factor measurement 'hepatocyte growth factor measurement' SubClassOf 'is_about' some 'cancer' 'hepatocyte growth factor measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_0006902 angiopoietin-2 receptor measurement 'angiopoietin-2 receptor measurement' SubClassOf 'is_about' some 'cancer' 'angiopoietin-2 receptor measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_0006901 angiopoietin-2 measurement 'angiopoietin-2 measurement' SubClassOf 'is_about' some 'cancer' 'angiopoietin-2 measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_0006900 endothelial growth factor measurement 'endothelial growth factor measurement' SubClassOf 'is_about' some 'cancer' 'endothelial growth factor measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_0004309 platelet count 'platelet count' SubClassOf ('is_about' some 'cancer') or ('is_about' some 'chronic myelogenous leukemia') or ('is_about' some 'polycythemia vera') or ('is_about' some 'anemia (phenotype)') or ('is_about' some 'autoimmune disease') 'platelet count' SubClassOf ('is_about' some http://purl.obolibrary.org/obo/MONDO_0004992) or ('is_about' some 'chronic myelogenous leukemia') or ('is_about' some 'polycythemia vera') or ('is_about' some 'anemia (phenotype)') or ('is_about' some 'autoimmune disease') http://www.ebi.ac.uk/efo/EFO_0006999 cancer aggressiveness measurement 'cancer aggressiveness measurement' SubClassOf 'is_about' some 'cancer' 'cancer aggressiveness measurement' SubClassOf 'is_about' some http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/MONDO_0017909 inherited glutathione synthetase deficiency 'inherited glutathione synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' 'inherited glutathione synthetase deficiency' SubClassOf 'inherited glutathione metabolism disease' http://purl.obolibrary.org/obo/MONDO_0017904 steroid dehydrogenase deficiency-dental anomalies syndrome 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'has modifier' some 'rare' 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'material entity' 'steroid dehydrogenase deficiency-dental anomalies syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017900 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency 'autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'mycobacterial infectious disease' 'autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency' SubClassOf 'immunodeficiency 28' http://purl.obolibrary.org/obo/MONDO_0017901 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'immunodeficiency 27A' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'hereditary predisposition to infections' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0017902 autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'immunodeficiency 28' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'hereditary predisposition to infections' 'autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency' SubClassOf 'predisposes towards' some 'mycobacterial infectious disease' http://purl.obolibrary.org/obo/MONDO_0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 'white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome' SubClassOf 'has modifier' some 'rare' 'white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017928 9p13 microdeletion syndrome '9p13 microdeletion syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017922 deafness-onychodystrophy syndrome 'deafness-onychodystrophy syndrome' SubClassOf 'syndromic nail anomaly' 'deafness-onychodystrophy syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017923 multiple synostoses syndrome 'multiple synostoses syndrome' SubClassOf 'congenital nervous system disorder' 'multiple synostoses syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome 'central nervous system calcification-deafness-tubular acidosis-anemia syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0017921 hearing loss-familial salivary gland insensitivity to aldosterone syndrome 'hearing loss-familial salivary gland insensitivity to aldosterone syndrome' SubClassOf 'syndromic genetic hearing loss' 'hearing loss-familial salivary gland insensitivity to aldosterone syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0030912 intellectual disability, autosomal dominant 47 'intellectual disability, autosomal dominant 47' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017713 disorder of fatty acid oxidation and ketogenesis 'disorder of fatty acid oxidation and ketogenesis' SubClassOf 'disorder of organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0017720 GM2 gangliosidosis 'GM2 gangliosidosis' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0017737 intermediate severe Salla disease 'intermediate severe Salla disease' SubClassOf 'disorder of carbohydrate absorption and transport' http://purl.obolibrary.org/obo/MONDO_0017746 atypical Rett syndrome 'atypical Rett syndrome' SubClassOf 'X-linked complex neurodevelopmental disorder' 'atypical Rett syndrome' SubClassOf 'motor stereotypies' 'atypical Rett syndrome' SubClassOf 'X-linked syndromic intellectual disability' 'atypical Rett syndrome' SubClassOf 'pervasive developmental disorder' 'atypical Rett syndrome' SubClassOf 'Neurodevelopmental disorder' 'atypical Rett syndrome' SubClassOf 'bearer_of' some 'rare' 'atypical Rett syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017755 inborn disorder of bilirubin metabolism 'inborn disorder of bilirubin metabolism' EquivalentTo 'bilirubin metabolism disease' and ('has modifier' some 'inherited') 'inborn disorder of bilirubin metabolism' EquivalentTo 'bilirubin metabolism disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0003122 striatonigral degeneration 'striatonigral degeneration' SubClassOf 'inborn errors of metabolism' 'striatonigral degeneration' SubClassOf 'inherited neurodegenerative disorder' http://purl.obolibrary.org/obo/MONDO_0017769 acquired immunodeficiency 'acquired immunodeficiency' SubClassOf 'has modifier' some 'rare' 'acquired immunodeficiency' SubClassOf 'material entity' 'acquired immunodeficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017779 alpha-N-acetylgalactosaminidase deficiency 'alpha-N-acetylgalactosaminidase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0017771 Mayer-Rokitansky-Kuster-Hauser syndrome 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'Mayer-Rokitansky-Kuster-Hauser syndrome' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0017773 hypoalphalipoproteinemia 'hypoalphalipoproteinemia' SubClassOf 'has modifier' some 'rare' 'hypoalphalipoproteinemia' SubClassOf 'bearer_of' some 'rare' 'hypoalphalipoproteinemia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017774 hypobetalipoproteinemia 'hypobetalipoproteinemia' SubClassOf 'has modifier' some 'rare' 'hypobetalipoproteinemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015111 gastroesophageal disease 'gastroesophageal disease' SubClassOf 'has modifier' some 'rare' 'gastroesophageal disease' SubClassOf 'material entity' 'gastroesophageal disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015110 genetic cardiac rhythm disease 'genetic cardiac rhythm disease' SubClassOf 'has modifier' some 'rare' 'genetic cardiac rhythm disease' EquivalentTo 'cardiac rhythm disease' and ('has modifier' some 'inherited') 'genetic cardiac rhythm disease' SubClassOf 'bearer_of' some 'rare' 'genetic cardiac rhythm disease' EquivalentTo 'cardiac rhythm disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017770 Robinow-like syndrome 'Robinow-like syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Robinow-like syndrome' SubClassOf 'bearer_of' some 'rare' 'Robinow-like syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0015126 polyendocrinopathy 'polyendocrinopathy' SubClassOf 'has modifier' some 'rare' 'polyendocrinopathy' SubClassOf 'bearer_of' some 'rare' 'polyendocrinopathy' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017788 contractures - webbed neck - micrognathia - hypoplastic nipples syndrome 'contractures - webbed neck - micrognathia - hypoplastic nipples syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'contractures - webbed neck - micrognathia - hypoplastic nipples syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'contractures - webbed neck - micrognathia - hypoplastic nipples syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017782 developmental and speech delay due to SOX5 deficiency 'developmental and speech delay due to SOX5 deficiency' SubClassOf 'has modifier' some 'rare' 'developmental and speech delay due to SOX5 deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017780 20p13 microdeletion syndrome '20p13 microdeletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0015135 primary immunodeficiency due to a genetic defect in innate immunity 'primary immunodeficiency due to a genetic defect in innate immunity' SubClassOf 'has modifier' some 'rare' 'primary immunodeficiency due to a genetic defect in innate immunity' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015130 acquired chronic primary adrenal insufficiency 'acquired chronic primary adrenal insufficiency' SubClassOf 'has modifier' some 'acquired' 'acquired chronic primary adrenal insufficiency' EquivalentTo 'chronic primary adrenal insufficiency' and ('has modifier' some 'acquired') 'acquired chronic primary adrenal insufficiency' SubClassOf 'bearer_of' some 'acquired' 'acquired chronic primary adrenal insufficiency' SubClassOf 'material entity' 'acquired chronic primary adrenal insufficiency' EquivalentTo 'chronic primary adrenal insufficiency' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/MONDO_0017795 ameloblastoma 'ameloblastoma' SubClassOf 'has modifier' some 'rare' 'ameloblastoma' SubClassOf 'material entity' 'ameloblastoma' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015133 quantitative and/or qualitative congenital phagocyte defect 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'has modifier' some 'congenital' 'quantitative and/or qualitative congenital phagocyte defect' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017792 7p22.1 microduplication syndrome '7p22.1 microduplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' '7p22.1 microduplication syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0054754 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf 'encephalopathy, acute, infection-induced' 'encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800174 http://purl.obolibrary.org/obo/MONDO_0015141 disorder of medulla oblongata 'disorder of medulla oblongata' SubClassOf 'has modifier' some 'rare' 'disorder of medulla oblongata' SubClassOf 'material entity' 'disorder of medulla oblongata' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015145 neurovascular malformation 'neurovascular malformation' SubClassOf 'disorder of central nervous system or retinal vasculature' 'neurovascular malformation' SubClassOf 'has modifier' some 'rare' 'neurovascular malformation' SubClassOf 'nervous system disease' 'neurovascular malformation' SubClassOf 'material entity' 'neurovascular malformation' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0054750 amyotrophic lateral sclerosis, susceptibility to, 24 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'familial amyotrophic lateral sclerosis' 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'inherited disease susceptibility' 'amyotrophic lateral sclerosis, susceptibility to, 24' SubClassOf 'predisposes towards' some 'familial amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/MONDO_0015159 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'has modifier' some 'rare' 'multiple congenital anomalies/dysmorphic syndrome-intellectual disability' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015152 autosomal recessive limb-girdle muscular dystrophy 'autosomal recessive limb-girdle muscular dystrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015151 muscular dystrophy, limb-girdle, autosomal dominant 'muscular dystrophy, limb-girdle, autosomal dominant' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015150 complex hereditary spastic paraplegia 'complex hereditary spastic paraplegia' EquivalentTo 'hereditary spastic paraplegia' and ('has modifier' some 'has a syndromic presentation') 'complex hereditary spastic paraplegia' EquivalentTo 'hereditary spastic paraplegia' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015163 primary glomerular disease 'primary glomerular disease' SubClassOf 'glomerular disease' 'primary glomerular disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0015180 intestinal disease due to fat malabsorption 'intestinal disease due to fat malabsorption' SubClassOf 'has modifier' some 'rare' 'intestinal disease due to fat malabsorption' SubClassOf 'bearer_of' some 'rare' 'intestinal disease due to fat malabsorption' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015179 intestinal disease due to vitamin absorption anomaly 'intestinal disease due to vitamin absorption anomaly' SubClassOf 'has modifier' some 'rare' 'intestinal disease due to vitamin absorption anomaly' SubClassOf 'bearer_of' some 'rare' 'intestinal disease due to vitamin absorption anomaly' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015178 congenital intestinal transport defect 'congenital intestinal transport defect' SubClassOf 'has modifier' some 'congenital' 'congenital intestinal transport defect' SubClassOf 'has modifier' some 'rare' 'congenital intestinal transport defect' SubClassOf 'bearer_of' some 'rare' 'congenital intestinal transport defect' SubClassOf 'bearer_of' some 'congenital' 'congenital intestinal transport defect' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015175 autoimmune pancreatitis 'autoimmune pancreatitis' SubClassOf 'has modifier' some 'rare' 'autoimmune pancreatitis' SubClassOf 'bearer_of' some 'rare' 'autoimmune pancreatitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015183 short bowel syndrome 'short bowel syndrome' SubClassOf 'has modifier' some 'rare' 'short bowel syndrome' SubClassOf 'material entity' 'short bowel syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015182 congenital enteropathy involving intestinal mucosa development 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'has modifier' some 'congenital' 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'has modifier' some 'rare' 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'material entity' 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'bearer_of' some 'rare' 'congenital enteropathy involving intestinal mucosa development' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015199 aniridia - intellectual disability syndrome 'aniridia - intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015198 aniridia-ptosis-intellectual disability-familial obesity syndrome 'aniridia-ptosis-intellectual disability-familial obesity syndrome' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0006803 vasculitis 'vasculitis' SubClassOf 'has modifier' some 'rare' 'vasculitis' SubClassOf 'bearer_of' some 'rare' 'vasculitis' SubClassOf 'material entity' http://www.ebi.ac.uk/efo/EFO_0006859 head and neck malignant neoplasia 'head and neck malignant neoplasia' SubClassOf 'cancer' 'head and neck malignant neoplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://purl.obolibrary.org/obo/HP_0008209 Premature ovarian insufficiency 'Premature ovarian insufficiency' SubClassOf 'Abnormal morphology of female internal genitalia' 'Premature ovarian insufficiency' SubClassOf 'Abnormality of the genital system' http://www.ebi.ac.uk/efo/EFO_0004224 Coronary Restenosis 'Coronary Restenosis' SubClassOf 'coronary stenosis' 'Coronary Restenosis' SubClassOf http://purl.obolibrary.org/obo/MONDO_0006715 http://www.ebi.ac.uk/efo/EFO_0004251 myeloproliferative disorder 'myeloproliferative disorder' SubClassOf 'cancer' 'myeloproliferative disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0004992 http://www.ebi.ac.uk/efo/EFO_0004259 osteonecrosis 'osteonecrosis' SubClassOf 'has modifier' some 'rare' 'osteonecrosis' SubClassOf 'material entity' 'osteonecrosis' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004256 neuromyelitis optica 'neuromyelitis optica' SubClassOf 'has modifier' some 'rare' 'neuromyelitis optica' SubClassOf 'material entity' 'neuromyelitis optica' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0004242 obsessive-compulsive disorder 'obsessive-compulsive disorder' SubClassOf 'genetic nervous system disorder' 'obsessive-compulsive disorder' SubClassOf 'genetic disorder' http://www.ebi.ac.uk/efo/EFO_0004246 mucocutaneous lymph node syndrome 'mucocutaneous lymph node syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0017806 15q overgrowth syndrome '15q overgrowth syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 'autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome' SubClassOf 'cerebral small vessel disease' http://www.ebi.ac.uk/efo/EFO_0004270 restless legs syndrome 'restless legs syndrome' SubClassOf 'genetic nervous system disorder' 'restless legs syndrome' SubClassOf 'nervous system disease' 'restless legs syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017818 lethal arteriopathy syndrome due to fibulin-4 deficiency 'lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'has modifier' some 'rare' 'lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'bearer_of' some 'rare' 'lethal arteriopathy syndrome due to fibulin-4 deficiency' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf 'overgrowth syndrome' 'segmental progressive overgrowth syndrome with fibroadipose hyperplasia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0035162 http://purl.obolibrary.org/obo/MONDO_0017813 van Maldergem syndrome 'van Maldergem syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'van Maldergem syndrome' SubClassOf 'genetic nervous system disorder' 'van Maldergem syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017815 acquired porencephaly 'acquired porencephaly' EquivalentTo 'porencephaly' and ('has modifier' some 'acquired') 'acquired porencephaly' SubClassOf 'has modifier' some 'acquired' 'acquired porencephaly' EquivalentTo 'porencephaly' and ('bearer_of' some 'acquired') 'acquired porencephaly' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0017811 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion' SubClassOf 'genetic nervous system disorder' http://www.ebi.ac.uk/efo/EFO_0004268 sclerosing cholangitis 'sclerosing cholangitis' SubClassOf 'has modifier' some 'rare' 'sclerosing cholangitis' SubClassOf 'bearer_of' some 'rare' 'sclerosing cholangitis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017824 familial isolated pituitary adenoma 'familial isolated pituitary adenoma' SubClassOf 'genetic nervous system disorder' 'familial isolated pituitary adenoma' EquivalentTo 'Pituitary Gland Adenoma' and ('has modifier' some 'inherited') 'familial isolated pituitary adenoma' EquivalentTo 'Pituitary Gland Adenoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017607 caudal regression sequence 'caudal regression sequence' SubClassOf 'syndromic renal or urinary tract malformation' http://purl.obolibrary.org/obo/MONDO_0017614 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 'X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017615 benign familial infantile epilepsy 'benign familial infantile epilepsy' SubClassOf 'genetic nervous system disorder' 'benign familial infantile epilepsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017613 intellectual disability-hypotonia-skin hyperpigmentation syndrome 'intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf 'has modifier' some 'rare' 'intellectual disability-hypotonia-skin hyperpigmentation syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017623 PTEN hamartoma tumor syndrome 'PTEN hamartoma tumor syndrome' SubClassOf 'has modifier' some 'rare' 'PTEN hamartoma tumor syndrome' SubClassOf 'bearer_of' some 'rare' 'PTEN hamartoma tumor syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0003008 hereditary renal cell carcinoma 'hereditary renal cell carcinoma' EquivalentTo 'renal cell carcinoma' and ('has modifier' some 'inherited') 'hereditary renal cell carcinoma' EquivalentTo 'renal cell carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0017642 intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome 'intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'has modifier' some 'rare' 'intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017658 hyperekplexia 'hyperekplexia' SubClassOf 'has modifier' some 'rare' 'hyperekplexia' SubClassOf 'material entity' 'hyperekplexia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017656 motor stereotypies 'motor stereotypies' SubClassOf 'has modifier' some 'rare' 'motor stereotypies' SubClassOf 'material entity' 'motor stereotypies' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017651 primary myoclonus 'primary myoclonus' SubClassOf 'has modifier' some 'rare' 'primary myoclonus' SubClassOf 'material entity' 'primary myoclonus' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015003 dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'cerebral organic aciduria' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'neurometabolic disease' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'eye degenerative disorder' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'syndromic dyslipidemia' 'dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0017667 isolated diffuse palmoplantar keratoderma 'isolated diffuse palmoplantar keratoderma' EquivalentTo 'diffuse palmoplantar keratoderma' and ('has modifier' some 'has an isolated presentation') 'isolated diffuse palmoplantar keratoderma' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated diffuse palmoplantar keratoderma' SubClassOf 'bearer_of' some 'has an isolated presentation' 'isolated diffuse palmoplantar keratoderma' EquivalentTo 'diffuse palmoplantar keratoderma' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0017673 isolated focal palmoplantar keratoderma 'isolated focal palmoplantar keratoderma' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated focal palmoplantar keratoderma' EquivalentTo 'focal palmoplantar keratoderma' and ('has modifier' some 'has an isolated presentation') 'isolated focal palmoplantar keratoderma' EquivalentTo 'focal palmoplantar keratoderma' and ('bearer_of' some 'has an isolated presentation') 'isolated focal palmoplantar keratoderma' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0015028 48,XXYY syndrome '48,XXYY syndrome' SubClassOf 'syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0017688 disorder of glycolysis 'disorder of glycolysis' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorder of glycolysis' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017698 glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 'glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'has modifier' some 'congenital' 'glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0017691 erythrocyte galactose epimerase deficiency 'erythrocyte galactose epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800152 http://purl.obolibrary.org/obo/MONDO_0017692 generalized galactose epimerase deficiency 'generalized galactose epimerase deficiency' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800152 http://purl.obolibrary.org/obo/MONDO_0015060 mosaic trisomy 3 'mosaic trisomy 3' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 3' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015059 progressive non-fluent aphasia 'progressive non-fluent aphasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015067 neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'has modifier' some 'rare' 'neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015073 gallbladder neuroendocrine tumor, grade 1/2 'gallbladder neuroendocrine tumor, grade 1/2' EquivalentTo 'gallbladder neuroendocrine neoplasm' and ('has modifier' some 'tumor grade 1 or 2, general grading system') 'gallbladder neuroendocrine tumor, grade 1/2' EquivalentTo 'gallbladder neuroendocrine neoplasm' and ('bearer_of' some 'tumor grade 1 or 2, general grading system') http://www.ebi.ac.uk/efo/EFO_0004502 adiponectin measurement 'adiponectin measurement' SubClassOf ('is_about' some 'type 2 diabetes mellitus') or ('is_about' some 'gastritis') or ('is_about' some 'pancreatitis') or ('is_about' some 'cancer') or ('is_about' some 'cardiovascular disease') or ('is_about' some 'kidney disease') or ('is_about' some 'inflammatory bowel disease') or ('is_about' some 'osteoporosis') or ('is_about' some 'gastroesophageal reflux disease') 'adiponectin measurement' SubClassOf ('is_about' some http://purl.obolibrary.org/obo/MONDO_0004992) or ('is_about' some 'type 2 diabetes mellitus') or ('is_about' some 'gastritis') or ('is_about' some 'pancreatitis') or ('is_about' some 'cardiovascular disease') or ('is_about' some 'kidney disease') or ('is_about' some 'inflammatory bowel disease') or ('is_about' some 'osteoporosis') or ('is_about' some 'gastroesophageal reflux disease') http://www.ebi.ac.uk/efo/EFO_0004537 neonatal systemic lupus erythematosus 'neonatal systemic lupus erythematosus' SubClassOf 'systemic lupus erythematosus' 'neonatal systemic lupus erythematosus' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007915 http://www.ebi.ac.uk/efo/EFO_0004540 chronic fatigue syndrome 'chronic fatigue syndrome' SubClassOf 'genetic nervous system disorder' 'chronic fatigue syndrome' SubClassOf 'nervous system disease' http://www.ebi.ac.uk/efo/EFO_0004599 acute graft vs. host disease 'acute graft vs. host disease' SubClassOf 'graft versus host disease' 'acute graft vs. host disease' SubClassOf 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0017706 disorder of carbohydrate absorption and transport 'disorder of carbohydrate absorption and transport' SubClassOf 'inborn carbohydrate metabolic disorder' 'disorder of carbohydrate absorption and transport' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0017709 disorder of lipid absorption and transport 'disorder of lipid absorption and transport' SubClassOf 'has modifier' some 'rare' 'disorder of lipid absorption and transport' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0017704 familial partial epilepsy 'familial partial epilepsy' EquivalentTo 'partial epilepsy' and ('has modifier' some 'inherited') 'familial partial epilepsy' SubClassOf 'genetic nervous system disorder' 'familial partial epilepsy' EquivalentTo 'partial epilepsy' and ('bearer_of' some 'inherited') 'familial partial epilepsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0017579 Baraitser-Winter cerebrofrontofacial syndrome 'Baraitser-Winter cerebrofrontofacial syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017574 chronic intestinal pseudoobstruction 'chronic intestinal pseudoobstruction' SubClassOf 'has modifier' some 'rare' 'chronic intestinal pseudoobstruction' SubClassOf 'bearer_of' some 'rare' 'chronic intestinal pseudoobstruction' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0017580 11p15.4 microduplication syndrome '11p15.4 microduplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0017592 staphylococcal toxemia 'staphylococcal toxemia' SubClassOf 'has modifier' some 'rare' 'staphylococcal toxemia' SubClassOf 'material entity' 'staphylococcal toxemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0054559 congenital disorder of glycosylation, type IIq 'congenital disorder of glycosylation, type IIq' SubClassOf 'congenital nervous system disorder' 'congenital disorder of glycosylation, type IIq' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0054591 Stankiewicz-Isidor syndrome 'Stankiewicz-Isidor syndrome' SubClassOf 'neurodevelopmental disorder' 'Stankiewicz-Isidor syndrome' SubClassOf 'Neurodevelopmental disorder' http://www.ebi.ac.uk/efo/EFO_0004458 C-reactive protein measurement 'C-reactive protein measurement' SubClassOf ('is_about' some 'cancer') or ('is_about' some 'cardiovascular disease') or ('is_about' some 'diabetes mellitus') or ('is_about' some 'hypertension') 'C-reactive protein measurement' SubClassOf ('is_about' some http://purl.obolibrary.org/obo/MONDO_0004992) or ('is_about' some 'cardiovascular disease') or ('is_about' some 'diabetes mellitus') or ('is_about' some 'hypertension') http://purl.obolibrary.org/obo/MONDO_0011291 congenital disorder of glycosylation type 1C 'congenital disorder of glycosylation type 1C' SubClassOf 'congenital nervous system disorder' 'congenital disorder of glycosylation type 1C' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0001902 congenital agammaglobulinemia 'congenital agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('has modifier' some 'congenital') 'congenital agammaglobulinemia' EquivalentTo 'agammaglobulinemia' and ('bearer_of' some 'congenital') http://purl.obolibrary.org/obo/MONDO_0013920 herpes simplex encephalitis, susceptibility to, 3 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'postinfectious encephalitis' 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'encephalopathy, acute, infection-induced' 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'herpes simplex encephalitis' 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'hereditary predisposition to infections' 'herpes simplex encephalitis, susceptibility to, 3' SubClassOf 'predisposes towards' some 'herpes simplex encephalitis' http://purl.obolibrary.org/obo/MONDO_0013921 herpes simplex encephalitis, susceptibility to, 4 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'encephalopathy, acute, infection-induced' 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'postinfectious encephalitis' 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'herpes simplex encephalitis' 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'predisposes towards' some 'herpes simplex encephalitis' 'herpes simplex encephalitis, susceptibility to, 4' SubClassOf 'hereditary predisposition to infections' http://purl.obolibrary.org/obo/MONDO_0013937 peroxisome biogenesis disorder 6B 'peroxisome biogenesis disorder 6B' SubClassOf 'has modifier' some 'non-classic presentation' 'peroxisome biogenesis disorder 6B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0013931 peroxisome biogenesis disorder 4B 'peroxisome biogenesis disorder 4B' SubClassOf 'has modifier' some 'non-classic presentation' 'peroxisome biogenesis disorder 4B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 'autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation' SubClassOf 'hereditary disorder of connective tissue' http://purl.obolibrary.org/obo/MONDO_0013953 immunodeficiency 28 'immunodeficiency 28' SubClassOf 'inborn errors of immunity' http://www.orpha.net/ORDO/Orphanet_98543 Metabolic disease with dementia 'Metabolic disease with dementia' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013969 combined oxidative phosphorylation defect type 11 'combined oxidative phosphorylation defect type 11' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011308 GRACILE syndrome 'GRACILE syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013960 sinoatrial node dysfunction and deafness 'sinoatrial node dysfunction and deafness' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0037940 inherited auditory system disease 'inherited auditory system disease' SubClassOf 'genetic nervous system disorder' 'inherited auditory system disease' EquivalentTo 'auditory system disease' and ('has modifier' some 'inherited') 'inherited auditory system disease' SubClassOf 'genetic disorder' 'inherited auditory system disease' EquivalentTo 'auditory system disease' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0013970 branched-chain keto acid dehydrogenase kinase deficiency 'branched-chain keto acid dehydrogenase kinase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' 'branched-chain keto acid dehydrogenase kinase deficiency' SubClassOf 'inborn disorder of branched-chain amino acid metabolism' http://purl.obolibrary.org/obo/MONDO_0011327 neuronal intranuclear inclusion disease 'neuronal intranuclear inclusion disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0037938 inborn disorder of aspartate family metabolism 'inborn disorder of aspartate family metabolism' SubClassOf 'inherited amino acid metabolic disorder' 'inborn disorder of aspartate family metabolism' SubClassOf 'amino acid metabolism disease' 'inborn disorder of aspartate family metabolism' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0013981 myoclonus, familial 'myoclonus, familial' SubClassOf 'genetic nervous system disorder' 'myoclonus, familial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0025986 megacystis-microcolon-intestinal hypoperistalsis syndrome 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'syndromic renal or urinary tract malformation' 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'syndromic urogenital tract malformation' 'megacystis-microcolon-intestinal hypoperistalsis syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011348 non-syndromic polydactyly 'non-syndromic polydactyly' EquivalentTo 'polydactyly' and ('has modifier' some 'has an isolated presentation') 'non-syndromic polydactyly' SubClassOf 'has modifier' some 'has an isolated presentation' 'non-syndromic polydactyly' EquivalentTo 'polydactyly' and ('bearer_of' some 'has an isolated presentation') 'non-syndromic polydactyly' SubClassOf 'bearer_of' some 'has an isolated presentation' http://purl.obolibrary.org/obo/MONDO_0011340 congenital tracheal stenosis 'congenital tracheal stenosis' SubClassOf 'has modifier' some 'congenital' 'congenital tracheal stenosis' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0011342 SLC35A1-CDG 'SLC35A1-CDG' SubClassOf 'neurometabolic disease' 'SLC35A1-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011365 blepharophimosis - intellectual disability syndrome, SBBYS type 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'genetic nervous system disorder' 'blepharophimosis - intellectual disability syndrome, SBBYS type' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0023369 disorder of facial skeleton 'disorder of facial skeleton' SubClassOf 'face disorder' http://purl.obolibrary.org/obo/MONDO_0011397 autosomal dominant cerebellar ataxia, deafness and narcolepsy 'autosomal dominant cerebellar ataxia, deafness and narcolepsy' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011184 childhood apraxia of speech 'childhood apraxia of speech' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011198 spondyloepimetaphyseal dysplasia, Missouri type 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Missouri type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0013809 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 'cerebellar ataxia, neuropathy, and vestibular areflexia syndrome' SubClassOf 'genetic disorder' 'cerebellar ataxia, neuropathy, and vestibular areflexia syndrome' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0013802 infantile cerebellar-retinal degeneration 'infantile cerebellar-retinal degeneration' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013806 familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome 'familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0001828 acquired color blindness 'acquired color blindness' SubClassOf 'has modifier' some 'acquired' 'acquired color blindness' EquivalentTo 'color vision disorder' and ('has modifier' some 'acquired') 'acquired color blindness' SubClassOf 'material entity' 'acquired color blindness' EquivalentTo 'color vision disorder' and ('bearer_of' some 'acquired') 'acquired color blindness' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0013810 COG6-CGD 'COG6-CGD' SubClassOf 'congenital nervous system disorder' 'COG6-CGD' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0001835 facial paralysis 'facial paralysis' SubClassOf 'face disorder' 'facial paralysis' SubClassOf 'head disorder' http://purl.obolibrary.org/obo/MONDO_0013825 congenital diarrhea 6 'congenital diarrhea 6' SubClassOf 'has modifier' some 'rare' 'congenital diarrhea 6' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013836 familial steroid-resistant nephrotic syndrome with sensorineural deafness 'familial steroid-resistant nephrotic syndrome with sensorineural deafness' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0013847 chromosome 16p11.2 duplication syndrome 'chromosome 16p11.2 duplication syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'has modifier' some 'rare' 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'genetic disorder' 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'material entity' 'intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001878 acquired hypertrophic pyloric stenosis 'acquired hypertrophic pyloric stenosis' EquivalentTo 'infantile hypertrophic pyloric stenosis' and ('has modifier' some 'acquired') 'acquired hypertrophic pyloric stenosis' SubClassOf 'has modifier' some 'acquired' 'acquired hypertrophic pyloric stenosis' EquivalentTo 'infantile hypertrophic pyloric stenosis' and ('bearer_of' some 'acquired') 'acquired hypertrophic pyloric stenosis' SubClassOf 'bearer_of' some 'acquired' 'acquired hypertrophic pyloric stenosis' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0011208 malignant atrophic papulosis 'malignant atrophic papulosis' SubClassOf 'has modifier' some 'rare' 'malignant atrophic papulosis' SubClassOf 'material entity' 'malignant atrophic papulosis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013860 idiopathic membranous glomerulonephritis 'idiopathic membranous glomerulonephritis' SubClassOf 'primary glomerular disease' 'idiopathic membranous glomerulonephritis' SubClassOf 'hereditary nephritis' http://purl.obolibrary.org/obo/MONDO_0011218 autosomal recessive congenital ichthyosis 11 'autosomal recessive congenital ichthyosis 11' SubClassOf 'isolated genetic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0013870 TMEM165-CDG 'TMEM165-CDG' SubClassOf 'congenital nervous system disorder' 'TMEM165-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011213 Pierpont syndrome 'Pierpont syndrome' SubClassOf 'genetic nervous system disorder' 'Pierpont syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'Pierpont syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013877 mitochondrial pyruvate carrier deficiency 'mitochondrial pyruvate carrier deficiency' SubClassOf 'cerebral organic aciduria' 'mitochondrial pyruvate carrier deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013875 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'syndromic genetic hearing loss' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'cerebral organic aciduria' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'syndromic dyslipidemia' '3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011227 short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'congenital nervous system disorder' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'syndromic genetic hearing loss' 'short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome 'short stature-optic atrophy-Pelger-HuC+t anomaly syndrome' SubClassOf 'syndromic hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0013881 congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'has modifier' some 'congenital' 'congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0023224 inherited reflex epilepsy 'inherited reflex epilepsy' EquivalentTo 'reflex epilepsy' and ('has modifier' some 'inherited') 'inherited reflex epilepsy' SubClassOf 'genetic nervous system disorder' 'inherited reflex epilepsy' EquivalentTo 'reflex epilepsy' and ('bearer_of' some 'inherited') 'inherited reflex epilepsy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013892 C3 glomerulonephritis 'C3 glomerulonephritis' SubClassOf 'hereditary nephritis' http://purl.obolibrary.org/obo/MONDO_0013898 karyomegalic interstitial nephritis 'karyomegalic interstitial nephritis' SubClassOf 'hereditary nephritis' http://purl.obolibrary.org/obo/MONDO_0011236 hyperinsulinism due to glucokinase deficiency 'hyperinsulinism due to glucokinase deficiency' SubClassOf 'disorder of glycolysis' 'hyperinsulinism due to glucokinase deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0037858 inherited fatty acid metabolism disorder 'inherited fatty acid metabolism disorder' SubClassOf 'inborn disorder of amino acid and other organic acid metabolism' http://purl.obolibrary.org/obo/MONDO_0011244 Marshall-Smith syndrome 'Marshall-Smith syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Marshall-Smith syndrome' SubClassOf 'syndromic disease' 'Marshall-Smith syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011243 grange syndrome 'grange syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'grange syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011246 megaconial type congenital muscular dystrophy 'megaconial type congenital muscular dystrophy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011240 megalencephaly-capillary malformation-polymicrogyria syndrome 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf 'genetic nervous system disorder' 'megalencephaly-capillary malformation-polymicrogyria syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0035162 http://purl.obolibrary.org/obo/MONDO_0011252 spondyloepimetaphyseal dysplasia, Shohat type 'spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Shohat type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0011261 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability 'spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011273 H syndrome 'H syndrome' SubClassOf 'syndromic genetic hearing loss' 'H syndrome' SubClassOf 'genetic skin disease' 'H syndrome' SubClassOf 'developmental anomaly of metabolic origin' 'H syndrome' SubClassOf 'inborn errors of metabolism' 'H syndrome' SubClassOf 'bearer_of' some 'rare' 'H syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0011050 microcephaly-cardiac defect-lung malsegmentation syndrome 'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'microcephaly-cardiac defect-lung malsegmentation syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011053 intellectual disability-sparse hair-brachydactyly syndrome 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-sparse hair-brachydactyly syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://www.ebi.ac.uk/efo/EFO_0008546 poisoning 'poisoning' SubClassOf 'disease' 'poisoning' SubClassOf 'disease' http://purl.obolibrary.org/obo/MONDO_0011080 progressive deafness with stapes fixation 'progressive deafness with stapes fixation' SubClassOf 'syndromic genetic hearing loss' 'progressive deafness with stapes fixation' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011081 dislocation of the hip-dysmorphism syndrome 'dislocation of the hip-dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'dislocation of the hip-dysmorphism syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'dislocation of the hip-dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011083 trichodental syndrome 'trichodental syndrome' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0011099 human HOXA1 syndromes 'human HOXA1 syndromes' SubClassOf 'syndromic genetic hearing loss' 'human HOXA1 syndromes' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0011090 isolated hereditary congenital facial paralysis 'isolated hereditary congenital facial paralysis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011093 mucopolysaccharidosis type 9 'mucopolysaccharidosis type 9' SubClassOf 'has modifier' some 'rare' 'mucopolysaccharidosis type 9' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001713 inherited aplastic anemia 'inherited aplastic anemia' EquivalentTo 'aplastic anemia' and ('has modifier' some 'inherited') 'inherited aplastic anemia' EquivalentTo 'aplastic anemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0013711 peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 'peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0001744 angle-closure glaucoma 'angle-closure glaucoma' SubClassOf 'glaucoma' 'angle-closure glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005041 http://purl.obolibrary.org/obo/MONDO_0013735 microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 'microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/OBA_2001020 age of onset of Buruli ulcer disease 'age of onset of Buruli ulcer disease' SubClassOf 'material property' 'age of onset of Buruli ulcer disease' SubClassOf 'characteristic of' some 'Buruli ulcer disease' 'age of onset of Buruli ulcer disease' EquivalentTo 'Onset' and ('characteristic of' some 'Buruli ulcer disease') http://purl.obolibrary.org/obo/OBA_2001011 age of onset of schizophrenia 'age of onset of schizophrenia' SubClassOf 'characteristic of' some 'schizophrenia' 'age of onset of schizophrenia' SubClassOf 'material property' 'age of onset of schizophrenia' EquivalentTo 'Onset' and ('characteristic of' some 'schizophrenia') http://purl.obolibrary.org/obo/MONDO_0013730 graft versus host disease 'graft versus host disease' SubClassOf 'has modifier' some 'rare' 'graft versus host disease' SubClassOf 'genetic disorder' 'graft versus host disease' SubClassOf 'material entity' 'graft versus host disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/OBA_2001010 age of onset of essential hypertension 'age of onset of essential hypertension' EquivalentTo 'Onset' and ('characteristic of' some 'essential hypertension') 'age of onset of essential hypertension' SubClassOf 'characteristic of' some 'essential hypertension' http://purl.obolibrary.org/obo/OBA_2001013 age of onset of type 2 diabetes mellitus 'age of onset of type 2 diabetes mellitus' SubClassOf 'characteristic of' some 'type 2 diabetes mellitus' 'age of onset of type 2 diabetes mellitus' SubClassOf 'material property' 'age of onset of type 2 diabetes mellitus' EquivalentTo 'Onset' and ('characteristic of' some 'type 2 diabetes mellitus') http://purl.obolibrary.org/obo/OBA_2001012 age of onset of type 1 diabetes mellitus 'age of onset of type 1 diabetes mellitus' SubClassOf 'material property' 'age of onset of type 1 diabetes mellitus' EquivalentTo 'Onset' and ('characteristic of' some 'type 1 diabetes mellitus') 'age of onset of type 1 diabetes mellitus' SubClassOf 'characteristic of' some 'type 1 diabetes mellitus' http://purl.obolibrary.org/obo/OBA_2001015 age of onset of childhood onset asthma 'age of onset of childhood onset asthma' SubClassOf 'characteristic of' some 'childhood onset asthma' 'age of onset of childhood onset asthma' EquivalentTo 'Onset' and ('characteristic of' some 'childhood onset asthma') http://purl.obolibrary.org/obo/MONDO_0013731 MEGF10-Related Myopathy 'MEGF10-Related Myopathy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/OBA_2001017 age of onset of allergic disease 'age of onset of allergic disease' SubClassOf 'characteristic of' some 'allergic disease' 'age of onset of allergic disease' SubClassOf 'material property' 'age of onset of allergic disease' EquivalentTo 'Onset' and ('characteristic of' some 'allergic disease') http://purl.obolibrary.org/obo/OBA_2001016 age of onset of alcohol dependence 'age of onset of alcohol dependence' SubClassOf 'material property' 'age of onset of alcohol dependence' SubClassOf 'characteristic of' some 'alcohol dependence' 'age of onset of alcohol dependence' EquivalentTo 'Onset' and ('characteristic of' some 'alcohol dependence') http://purl.obolibrary.org/obo/OBA_2001018 age of onset of amyotrophic lateral sclerosis 'age of onset of amyotrophic lateral sclerosis' SubClassOf 'material property' 'age of onset of amyotrophic lateral sclerosis' EquivalentTo 'Onset' and ('characteristic of' some 'amyotrophic lateral sclerosis') 'age of onset of amyotrophic lateral sclerosis' SubClassOf 'characteristic of' some 'amyotrophic lateral sclerosis' http://purl.obolibrary.org/obo/OBA_2001000 age of onset of Alzheimer disease 'age of onset of Alzheimer disease' SubClassOf 'material property' 'age of onset of Alzheimer disease' SubClassOf 'characteristic of' some 'Alzheimer disease' 'age of onset of Alzheimer disease' EquivalentTo 'Onset' and ('characteristic of' some 'Alzheimer disease') http://purl.obolibrary.org/obo/OBA_2001002 age of onset of urinary bladder carcinoma 'age of onset of urinary bladder carcinoma' SubClassOf 'material property' 'age of onset of urinary bladder carcinoma' SubClassOf 'characteristic of' some 'urinary bladder carcinoma' 'age of onset of urinary bladder carcinoma' EquivalentTo 'Onset' and ('characteristic of' some 'urinary bladder carcinoma') http://purl.obolibrary.org/obo/OBA_2001001 age of onset of asthma 'age of onset of asthma' SubClassOf 'material property' 'age of onset of asthma' EquivalentTo 'Onset' and ('characteristic of' some 'asthma') 'age of onset of asthma' SubClassOf 'characteristic of' some 'asthma' http://purl.obolibrary.org/obo/OBA_2001004 age of onset of cataract 'age of onset of cataract' SubClassOf 'characteristic of' some 'cataract' 'age of onset of cataract' EquivalentTo 'Onset' and ('characteristic of' some 'cataract') 'age of onset of cataract' SubClassOf 'material property' http://purl.obolibrary.org/obo/MONDO_0013743 autosomal systemic lupus erythematosus type 16 'autosomal systemic lupus erythematosus type 16' SubClassOf 'systemic lupus erythematosus' 'autosomal systemic lupus erythematosus type 16' SubClassOf http://purl.obolibrary.org/obo/MONDO_0007915 http://purl.obolibrary.org/obo/OBA_2001008 age of onset of osteoarthritis 'age of onset of osteoarthritis' SubClassOf 'characteristic of' some 'osteoarthritis' 'age of onset of osteoarthritis' EquivalentTo 'Onset' and ('characteristic of' some 'osteoarthritis') 'age of onset of osteoarthritis' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001007 age of onset of hyperlipidemia 'age of onset of hyperlipidemia' SubClassOf 'material property' 'age of onset of hyperlipidemia' SubClassOf 'characteristic of' some 'hyperlipidemia' 'age of onset of hyperlipidemia' EquivalentTo 'Onset' and ('characteristic of' some 'hyperlipidemia') http://purl.obolibrary.org/obo/OBA_2001009 age of onset of Parkinson disease 'age of onset of Parkinson disease' SubClassOf 'material property' 'age of onset of Parkinson disease' EquivalentTo 'Onset' and ('characteristic of' some 'Parkinson disease') 'age of onset of Parkinson disease' SubClassOf 'characteristic of' some 'Parkinson disease' http://purl.obolibrary.org/obo/MONDO_0013758 Charcot-Marie-Tooth disease dominant intermediate E 'Charcot-Marie-Tooth disease dominant intermediate E' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0013753 Charcot-Marie-Tooth disease axonal type 2P 'Charcot-Marie-Tooth disease axonal type 2P' SubClassOf 'autosomal recessive axonal hereditary motor and sensory neuropathy' http://purl.obolibrary.org/obo/MONDO_0011107 congenital hypotrichosis with juvenile macular dystrophy 'congenital hypotrichosis with juvenile macular dystrophy' SubClassOf 'has modifier' some 'congenital' 'congenital hypotrichosis with juvenile macular dystrophy' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0011106 facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 'facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf 'lens position anomaly' 'facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf 'genetic disorder' 'facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome' SubClassOf 'lens disease' http://purl.obolibrary.org/obo/MONDO_0013762 lipoic acid synthetase deficiency 'lipoic acid synthetase deficiency' SubClassOf 'cerebral organic aciduria' http://purl.obolibrary.org/obo/MONDO_0011101 peroxisome biogenesis disorder 1B 'peroxisome biogenesis disorder 1B' SubClassOf 'has modifier' some 'non-classic presentation' 'peroxisome biogenesis disorder 1B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 'congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'congenital nervous system disorder' 'congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'neurometabolic disease' 'congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0013772 congenital cataract-hearing loss-severe developmental delay syndrome 'congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'neurometabolic disease' 'congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'congenital nervous system disorder' 'congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'syndromic cataract' 'congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'bearer_of' some 'congenital' 'congenital cataract-hearing loss-severe developmental delay syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011124 spondyloepimetaphyseal dysplasia-abnormal dentition syndrome 'spondyloepimetaphyseal dysplasia-abnormal dentition syndrome' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia-abnormal dentition syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0013789 DDOST-CDG 'DDOST-CDG' SubClassOf 'neurometabolic disease' 'DDOST-CDG' SubClassOf 'congenital nervous system disorder' 'DDOST-CDG' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0023122 familial prostate carcinoma 'familial prostate carcinoma' EquivalentTo 'prostate carcinoma' and ('has modifier' some 'inherited') 'familial prostate carcinoma' EquivalentTo 'prostate carcinoma' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy 'T-cell immunodeficiency, congenital alopecia, and nail dystrophy' SubClassOf 'has modifier' some 'congenital' 'T-cell immunodeficiency, congenital alopecia, and nail dystrophy' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0011134 Curry-Jones syndrome 'Curry-Jones syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Curry-Jones syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011133 deaf blind hypopigmentation syndrome, Yemenite type 'deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'genetic skin disease' 'deaf blind hypopigmentation syndrome, Yemenite type' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011138 systemic lupus erythematosus, susceptibility to, 1 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf 'predisposes towards' some 'systemic lupus erythematosus' 'systemic lupus erythematosus, susceptibility to, 1' SubClassOf 'predisposes towards' some http://purl.obolibrary.org/obo/MONDO_0007915 http://purl.obolibrary.org/obo/MONDO_0023113 familial colorectal cancer 'familial colorectal cancer' EquivalentTo 'colorectal cancer' and ('has modifier' some 'inherited') 'familial colorectal cancer' EquivalentTo 'colorectal cancer' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0011142 Ehlers-Danlos syndrome, musculocontractural type 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'congenital nervous system disorder' 'Ehlers-Danlos syndrome, musculocontractural type' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome 'colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011147 chromosome 18q deletion syndrome 'chromosome 18q deletion syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011146 tetrasomy 12p 'tetrasomy 12p' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0023149 infection due to clostridium perfringens 'infection due to clostridium perfringens' SubClassOf 'has modifier' some 'rare' 'infection due to clostridium perfringens' SubClassOf 'material entity' 'infection due to clostridium perfringens' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0008518 polymyalgia rheumatica 'polymyalgia rheumatica' SubClassOf 'has modifier' some 'rare' 'polymyalgia rheumatica' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0008514 neurofibromatosis 'neurofibromatosis' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0011150 acroosteolysis-keloid-like lesions-premature aging syndrome 'acroosteolysis-keloid-like lesions-premature aging syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011152 PHGDH deficiency 'PHGDH deficiency' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0008507 interstitial cystitis 'interstitial cystitis' SubClassOf 'has modifier' some 'rare' 'interstitial cystitis' SubClassOf 'material entity' 'interstitial cystitis' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011163 malignant hyperthermia, susceptibility to, 5 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'malignant hyperthermia of anesthesia' 'malignant hyperthermia, susceptibility to, 5' SubClassOf 'predisposes towards' some 'malignant hyperthermia of anesthesia' 'malignant hyperthermia, susceptibility to, 5' SubClassOf http://purl.obolibrary.org/obo/MONDO_0800188 http://purl.obolibrary.org/obo/MONDO_0013595 hyperbiliverdinemia 'hyperbiliverdinemia' SubClassOf 'has modifier' some 'rare' 'hyperbiliverdinemia' SubClassOf 'genetic disorder' 'hyperbiliverdinemia' SubClassOf 'material entity' 'hyperbiliverdinemia' SubClassOf 'bearer_of' some 'rare' http://www.ebi.ac.uk/efo/EFO_0021425 pigmentary glaucoma 'pigmentary glaucoma' SubClassOf 'glaucoma' 'pigmentary glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005041 http://purl.obolibrary.org/obo/OBA_2001033 age of onset of coronary atherosclerosis 'age of onset of coronary atherosclerosis' SubClassOf 'characteristic of' some 'coronary atherosclerosis' 'age of onset of coronary atherosclerosis' EquivalentTo 'Onset' and ('characteristic of' some 'coronary atherosclerosis') 'age of onset of coronary atherosclerosis' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001032 age of onset of narcolepsy-cataplexy syndrome 'age of onset of narcolepsy-cataplexy syndrome' EquivalentTo 'Onset' and ('characteristic of' some 'narcolepsy-cataplexy syndrome') 'age of onset of narcolepsy-cataplexy syndrome' SubClassOf 'material property' 'age of onset of narcolepsy-cataplexy syndrome' SubClassOf 'characteristic of' some 'narcolepsy-cataplexy syndrome' http://purl.obolibrary.org/obo/OBA_2001031 age of onset of refractive error 'age of onset of refractive error' SubClassOf 'characteristic of' some 'refractive error' 'age of onset of refractive error' EquivalentTo 'Onset' and ('characteristic of' some 'refractive error') 'age of onset of refractive error' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001030 age of onset of myopia 'age of onset of myopia' EquivalentTo 'Onset' and ('characteristic of' some http://purl.obolibrary.org/obo/MONDO_0001384) 'age of onset of myopia' SubClassOf 'characteristic of' some http://purl.obolibrary.org/obo/MONDO_0001384 http://purl.obolibrary.org/obo/OBA_2001022 age of onset of frontotemporal dementia 'age of onset of frontotemporal dementia' SubClassOf 'characteristic of' some 'frontotemporal dementia' 'age of onset of frontotemporal dementia' EquivalentTo 'Onset' and ('characteristic of' some 'frontotemporal dementia') 'age of onset of frontotemporal dementia' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001024 age of onset of Huntington disease 'age of onset of Huntington disease' EquivalentTo 'Onset' and ('characteristic of' some 'Huntington disease') 'age of onset of Huntington disease' SubClassOf 'characteristic of' some 'Huntington disease' 'age of onset of Huntington disease' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001026 age of onset of migraine disorder 'age of onset of migraine disorder' EquivalentTo 'Onset' and ('characteristic of' some 'migraine disorder') 'age of onset of migraine disorder' SubClassOf 'characteristic of' some 'migraine disorder' 'age of onset of migraine disorder' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2001028 age of onset of migraine without aura 'age of onset of migraine without aura' SubClassOf 'characteristic of' some 'migraine without aura' 'age of onset of migraine without aura' EquivalentTo 'Onset' and ('characteristic of' some 'migraine without aura') http://purl.obolibrary.org/obo/OBA_2001027 age of onset of migraine with aura 'age of onset of migraine with aura' SubClassOf 'characteristic of' some 'migraine with aura' 'age of onset of migraine with aura' EquivalentTo 'Onset' and ('characteristic of' some 'migraine with aura') http://www.orpha.net/ORDO/Orphanet_47045 Familial cold urticaria 'Familial cold urticaria' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/OBA_2001029 age of onset of multiple sclerosis 'age of onset of multiple sclerosis' SubClassOf 'characteristic of' some 'multiple sclerosis' 'age of onset of multiple sclerosis' EquivalentTo 'Onset' and ('characteristic of' some 'multiple sclerosis') 'age of onset of multiple sclerosis' SubClassOf 'material property' http://www.ebi.ac.uk/efo/EFO_0008493 cerebral small vessel disease 'cerebral small vessel disease' SubClassOf 'genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0001627 dementia 'dementia' SubClassOf 'cognitive disorder' 'dementia' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002039 http://purl.obolibrary.org/obo/MONDO_0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome 'hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'syndromic genetic hearing loss' 'hypertelorism-preauricular sinus-punctual pits-deafness syndrome' SubClassOf 'genetic disorder' http://www.orpha.net/ORDO/Orphanet_98685 Oculomotor palsy 'Oculomotor palsy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013621 LAMB2-related infantile-onset nephrotic syndrome 'LAMB2-related infantile-onset nephrotic syndrome' SubClassOf 'primary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0013640 familial retinal arterial macroaneurysm 'familial retinal arterial macroaneurysm' SubClassOf 'genetic central nervous system and retinal vascular disease' http://purl.obolibrary.org/obo/MONDO_0013646 chromosome 8q21.11 deletion syndrome 'chromosome 8q21.11 deletion syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 8q21.11 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0013659 microcephaly-capillary malformation syndrome 'microcephaly-capillary malformation syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011008 cleft lip/palate-intestinal malrotation-cardiopathy syndrome 'cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf 'genetic otorhinolaryngologic disease' 'cleft lip/palate-intestinal malrotation-cardiopathy syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011007 diaphragmatic defect-limb deficiency-skull defect syndrome 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'diaphragmatic defect-limb deficiency-skull defect syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011011 skeletal dysplasia-epilepsy-short stature syndrome 'skeletal dysplasia-epilepsy-short stature syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013674 neurodegeneration with brain iron accumulation 4 'neurodegeneration with brain iron accumulation 4' SubClassOf 'syndromic hereditary optic neuropathy' 'neurodegeneration with brain iron accumulation 4' SubClassOf 'eye degenerative disorder' http://purl.obolibrary.org/obo/MONDO_0011010 Matthew-Wood syndrome 'Matthew-Wood syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Matthew-Wood syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' http://purl.obolibrary.org/obo/MONDO_0011012 African iron overload 'African iron overload' SubClassOf 'has modifier' some 'rare' 'African iron overload' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0011014 pleuropulmonary blastoma 'pleuropulmonary blastoma' SubClassOf 'pulmonary blastoma' 'pleuropulmonary blastoma' SubClassOf 'childhood cancer' 'pleuropulmonary blastoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011017 Naxos disease 'Naxos disease' SubClassOf 'diffuse palmoplantar keratoderma' 'Naxos disease' SubClassOf 'syndromic hair shaft abnormality' http://purl.obolibrary.org/obo/MONDO_0011022 Potocki-Shaffer syndrome 'Potocki-Shaffer syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'Potocki-Shaffer syndrome' SubClassOf 'syndromic disease' 'Potocki-Shaffer syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0011024 dermatitis herpetiformis, familial 'dermatitis herpetiformis, familial' EquivalentTo 'dermatitis herpetiformis' and ('has modifier' some 'inherited') 'dermatitis herpetiformis, familial' SubClassOf 'genetic skin disease' 'dermatitis herpetiformis, familial' EquivalentTo 'dermatitis herpetiformis' and ('bearer_of' some 'inherited') 'dermatitis herpetiformis, familial' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011035 neurofibromatosis-Noonan syndrome 'neurofibromatosis-Noonan syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0011034 odontomicronychial dysplasia 'odontomicronychial dysplasia' SubClassOf 'syndromic nail anomaly' 'odontomicronychial dysplasia' SubClassOf 'ectodermal dysplasia syndrome' http://purl.obolibrary.org/obo/MONDO_0011038 cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf 'syndromic hereditary optic neuropathy' 'cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0011045 MMEP syndrome 'MMEP syndrome' SubClassOf 'genetic nervous system disorder' 'MMEP syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0011047 deafness-epiphyseal dysplasia-short stature syndrome 'deafness-epiphyseal dysplasia-short stature syndrome' SubClassOf 'syndromic genetic hearing loss' 'deafness-epiphyseal dysplasia-short stature syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0011049 fine-Lubinsky syndrome 'fine-Lubinsky syndrome' SubClassOf 'genetic nervous system disorder' 'fine-Lubinsky syndrome' SubClassOf 'syndromic cataract' 'fine-Lubinsky syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0025484 simian acquired immunodeficiency syndrome 'simian acquired immunodeficiency syndrome' EquivalentTo 'immune system disease' and ('disease arises from feature' some 'simian immunodeficiency virus infection') 'simian acquired immunodeficiency syndrome' SubClassOf 'immune system disease' 'simian acquired immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700097 some 'acquired immunodeficiency' 'simian acquired immunodeficiency syndrome' EquivalentTo http://purl.obolibrary.org/obo/MONDO_0700106 and ('disease arises from feature' some 'simian immunodeficiency virus infection') 'simian acquired immunodeficiency syndrome' SubClassOf http://purl.obolibrary.org/obo/MONDO_0700106 http://purl.obolibrary.org/obo/MONDO_0001524 globe disease 'globe disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0001554 phacogenic glaucoma 'phacogenic glaucoma' SubClassOf 'glaucoma' 'phacogenic glaucoma' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005041 http://purl.obolibrary.org/obo/MONDO_0013531 PSPH deficiency 'PSPH deficiency' SubClassOf 'syndromic intellectual disability' 'PSPH deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency 'hyperlipidemia due to hepatic triglyceride lipase deficiency' SubClassOf 'familial hyperlipidemia' http://purl.obolibrary.org/obo/MONDO_0025511 inherited neuroendocrine tumor 'inherited neuroendocrine tumor' SubClassOf 'has modifier' some 'rare' 'inherited neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('has modifier' some 'inherited') 'inherited neuroendocrine tumor' SubClassOf 'bearer_of' some 'rare' 'inherited neuroendocrine tumor' EquivalentTo 'neuroendocrine neoplasm' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0013540 deafness-lymphedema-leukemia syndrome 'deafness-lymphedema-leukemia syndrome' SubClassOf 'nervous system neoplasm' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'neurovascular disorder' 'deafness-lymphedema-leukemia syndrome' SubClassOf 'syndromic genetic hearing loss' http://purl.obolibrary.org/obo/MONDO_0001578 hernia of ovary and fallopian tube 'hernia of ovary and fallopian tube' SubClassOf 'female reproductive system disease' 'hernia of ovary and fallopian tube' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001586 mucopolysaccharidosis type 1 'mucopolysaccharidosis type 1' SubClassOf 'neurometabolic disease' 'mucopolysaccharidosis type 1' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013563 multiple congenital anomalies-hypotonia-seizures syndrome 1 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'congenital nervous system disorder' 'multiple congenital anomalies-hypotonia-seizures syndrome 1' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013579 methylmalonate semialdehyde dehydrogenase deficiency 'methylmalonate semialdehyde dehydrogenase deficiency' SubClassOf 'inherited organic acidemia' http://purl.obolibrary.org/obo/MONDO_0013577 Lipedema 'Lipedema' SubClassOf 'has modifier' some 'rare' 'Lipedema' SubClassOf 'bearer_of' some 'rare' 'Lipedema' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0013578 DYRK1A-related intellectual disability syndrome 'DYRK1A-related intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0013587 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 'glycogen storage disease due to lactate dehydrogenase H-subunit deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/MONDO_0013583 occipital pachygyria and polymicrogyria 'occipital pachygyria and polymicrogyria' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013351 infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 'infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013352 intellectual disability-severe speech delay-mild dysmorphism syndrome 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' 'intellectual disability-severe speech delay-mild dysmorphism syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'genetic nervous system disorder' 'THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0013361 congenital prothrombin deficiency 'congenital prothrombin deficiency' EquivalentTo 'prothrombin deficiency' and ('has modifier' some 'inherited') 'congenital prothrombin deficiency' EquivalentTo 'prothrombin deficiency' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0013396 chromosome 1p32-p31 deletion syndrome 'chromosome 1p32-p31 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'chromosome 1p32-p31 deletion syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://purl.obolibrary.org/obo/MONDO_0013394 porencephaly-microcephaly-bilateral congenital cataract syndrome 'porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'genetic nervous system disorder' 'porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'bearer_of' some 'rare' 'porencephaly-microcephaly-bilateral congenital cataract syndrome' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0013400 Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'genetic disorder' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'has modifier' some 'rare' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'material entity' 'Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase' SubClassOf 'cerebral organic aciduria' 'hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001444 Chagas disease 'Chagas disease' SubClassOf 'has modifier' some 'rare' 'Chagas disease' SubClassOf 'bearer_of' some 'rare' 'Chagas disease' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0013424 3p- syndrome '3p- syndrome' SubClassOf 'genetic nervous system disorder' '3p- syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0013439 congenital bile acid synthesis defect 3 'congenital bile acid synthesis defect 3' SubClassOf 'has modifier' some 'congenital' 'congenital bile acid synthesis defect 3' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0013440 autosomal recessive limb-girdle muscular dystrophy type 2P 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'neurometabolic disease' 'autosomal recessive limb-girdle muscular dystrophy type 2P' SubClassOf 'primary qualitative or quantitative defects of alpha-dystroglycan' http://purl.obolibrary.org/obo/MONDO_0013452 multisystemic smooth muscle dysfunction syndrome 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'genetic central nervous system and retinal vascular disease' 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'bearer_of' some 'rare' 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'material entity' 'multisystemic smooth muscle dysfunction syndrome' SubClassOf 'vascular disease' http://www.ebi.ac.uk/efo/EFO_0008620 Polycystic Kidney Disease 'Polycystic Kidney Disease' SubClassOf 'Cystic Kidney Disease' 'Polycystic Kidney Disease' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0013233 spondyloepimetaphyseal dysplasia, Handigodu type 'spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf 'spondyloepiphyseal dysplasia' 'spondyloepimetaphyseal dysplasia, Handigodu type' SubClassOf http://purl.obolibrary.org/obo/MONDO_0100510 http://purl.obolibrary.org/obo/MONDO_0013245 syndromic multisystem autoimmune disease due to ITCH deficiency 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'syndromic multisystem autoimmune disease due to ITCH deficiency' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013252 Warsaw breakage syndrome 'Warsaw breakage syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Warsaw breakage syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Warsaw breakage syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/OBA_2040160 age of onset of Machado-Joseph disease 'age of onset of Machado-Joseph disease' EquivalentTo 'Onset' and ('characteristic of' some 'Machado-Joseph disease') 'age of onset of Machado-Joseph disease' SubClassOf 'characteristic of' some 'Machado-Joseph disease' 'age of onset of Machado-Joseph disease' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2040161 age of onset of major depressive disorder 'age of onset of major depressive disorder' EquivalentTo 'Onset' and ('characteristic of' some 'major depressive disorder') 'age of onset of major depressive disorder' SubClassOf 'characteristic of' some 'major depressive disorder' http://purl.obolibrary.org/obo/MONDO_0001296 acquired night blindness 'acquired night blindness' EquivalentTo 'night blindness' and ('has modifier' some 'acquired') 'acquired night blindness' SubClassOf 'has modifier' some 'acquired' 'acquired night blindness' SubClassOf 'bearer_of' some 'acquired' 'acquired night blindness' EquivalentTo 'night blindness' and ('bearer_of' some 'acquired') http://purl.obolibrary.org/obo/OBA_2040166 age of onset of depressive disorder 'age of onset of depressive disorder' EquivalentTo 'Onset' and ('characteristic of' some 'depressive disorder') 'age of onset of depressive disorder' SubClassOf 'characteristic of' some 'depressive disorder' 'age of onset of depressive disorder' SubClassOf 'material property' http://purl.obolibrary.org/obo/MONDO_0013276 Reynolds syndrome 'Reynolds syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013275 hemolytic anemia due to glucophosphate isomerase deficiency 'hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'disorder of glycolysis' 'hemolytic anemia due to glucophosphate isomerase deficiency' SubClassOf 'disorder of glycolysis' http://purl.obolibrary.org/obo/OBA_2040157 age of onset of glioblastoma 'age of onset of glioblastoma' EquivalentTo 'Onset' and ('characteristic of' some http://purl.obolibrary.org/obo/MONDO_0018177) 'age of onset of glioblastoma' SubClassOf 'characteristic of' some http://purl.obolibrary.org/obo/MONDO_0018177 'age of onset of glioblastoma' SubClassOf 'material property' http://purl.obolibrary.org/obo/OBA_2040159 age of onset of hypertensive disorder 'age of onset of hypertensive disorder' EquivalentTo 'Onset' and ('characteristic of' some http://purl.obolibrary.org/obo/MONDO_0005044) 'age of onset of hypertensive disorder' SubClassOf 'material property' 'age of onset of hypertensive disorder' SubClassOf 'characteristic of' some http://purl.obolibrary.org/obo/MONDO_0005044 http://purl.obolibrary.org/obo/OBA_2040155 age of onset of stroke disorder 'age of onset of stroke disorder' SubClassOf 'characteristic of' some http://purl.obolibrary.org/obo/MONDO_0005098 'age of onset of stroke disorder' EquivalentTo 'Onset' and ('characteristic of' some http://purl.obolibrary.org/obo/MONDO_0005098) 'age of onset of stroke disorder' SubClassOf 'material property' http://purl.obolibrary.org/obo/MONDO_0013281 COG4-CDG 'COG4-CDG' SubClassOf 'congenital nervous system disorder' 'COG4-CDG' SubClassOf 'neurometabolic disease' 'COG4-CDG' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013298 chromosome 17q21.31 duplication syndrome 'chromosome 17q21.31 duplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 17q21.31 duplication syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013291 glycogen storage disease XV 'glycogen storage disease XV' SubClassOf 'glycogen storage disease' 'glycogen storage disease XV' SubClassOf 'glycogen storage disease' http://purl.obolibrary.org/obo/MONDO_0015905 syndromic dyslipidemia 'syndromic dyslipidemia' EquivalentTo 'inherited lipid metabolism disorder' and ('has modifier' some 'has a syndromic presentation') 'syndromic dyslipidemia' SubClassOf 'has modifier' some 'rare' 'syndromic dyslipidemia' EquivalentTo 'inherited lipid metabolism disorder' and ('bearer_of' some 'has a syndromic presentation') 'syndromic dyslipidemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015903 hyperalphalipoproteinemia 'hyperalphalipoproteinemia' SubClassOf 'has modifier' some 'rare' 'hyperalphalipoproteinemia' SubClassOf 'bearer_of' some 'rare' 'hyperalphalipoproteinemia' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015902 major hypertriglyceridemia 'major hypertriglyceridemia' SubClassOf 'has modifier' some 'rare' 'major hypertriglyceridemia' SubClassOf 'material entity' 'major hypertriglyceridemia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015914 primary orthostatic hypotension 'primary orthostatic hypotension' SubClassOf 'has modifier' some 'rare' 'primary orthostatic hypotension' SubClassOf 'material entity' 'primary orthostatic hypotension' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015923 acquired peripheral neuropathy 'acquired peripheral neuropathy' SubClassOf 'has modifier' some 'acquired' 'acquired peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and ('has modifier' some 'acquired') 'acquired peripheral neuropathy' SubClassOf 'has modifier' some 'rare' 'acquired peripheral neuropathy' SubClassOf 'bearer_of' some 'rare' 'acquired peripheral neuropathy' EquivalentTo 'peripheral neuropathy' and ('bearer_of' some 'acquired') 'acquired peripheral neuropathy' SubClassOf 'material entity' 'acquired peripheral neuropathy' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0015921 ARX-related epileptic encephalopathy 'ARX-related epileptic encephalopathy' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015947 inherited ichthyosis 'inherited ichthyosis' SubClassOf 'genetic skin disease' 'inherited ichthyosis' EquivalentTo 'ichthyosis' and ('has modifier' some 'inherited') 'inherited ichthyosis' EquivalentTo 'ichthyosis' and ('bearer_of' some 'inherited') 'inherited ichthyosis' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0015944 axial mesodermal dysplasia spectrum 'axial mesodermal dysplasia spectrum' SubClassOf 'syndromic renal or urinary tract malformation' 'axial mesodermal dysplasia spectrum' SubClassOf 'syndromic urogenital tract malformation' http://purl.obolibrary.org/obo/MONDO_0015942 frontometaphyseal dysplasia 'frontometaphyseal dysplasia' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'frontometaphyseal dysplasia' SubClassOf 'X-linked syndromic intellectual disability' http://purl.obolibrary.org/obo/MONDO_0015951 hereditary photodermatosis 'hereditary photodermatosis' SubClassOf 'has modifier' some 'rare' 'hereditary photodermatosis' SubClassOf 'genetic skin disease' 'hereditary photodermatosis' SubClassOf 'bearer_of' some 'rare' 'hereditary photodermatosis' SubClassOf 'genetic disorder' 'hereditary photodermatosis' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0015950 inherited skin tumor 'inherited skin tumor' SubClassOf 'has modifier' some 'rare' 'inherited skin tumor' SubClassOf 'genetic skin disease' 'inherited skin tumor' SubClassOf 'genetic disorder' 'inherited skin tumor' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015953 genetic central nervous system and retinal vascular disease 'genetic central nervous system and retinal vascular disease' SubClassOf 'neurovascular disorder' 'genetic central nervous system and retinal vascular disease' EquivalentTo 'disorder of central nervous system or retinal vasculature' and ('has modifier' some 'inherited') 'genetic central nervous system and retinal vascular disease' SubClassOf 'disorder of central nervous system or retinal vasculature' 'genetic central nervous system and retinal vascular disease' SubClassOf 'genetic nervous system disorder' 'genetic central nervous system and retinal vascular disease' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/MONDO_0001325 penile cancer 'penile cancer' SubClassOf 'has modifier' some 'rare' 'penile cancer' SubClassOf 'bearer_of' some 'rare' 'penile cancer' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015962 inherited renal tubular disease 'inherited renal tubular disease' SubClassOf 'has modifier' some 'rare' 'inherited renal tubular disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013301 aromatase deficiency 'aromatase deficiency' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0015961 genetic head and neck malformation 'genetic head and neck malformation' SubClassOf 'has modifier' some 'rare' 'genetic head and neck malformation' SubClassOf 'bearer_of' some 'rare' 'genetic head and neck malformation' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0001336 familial hyperlipidemia 'familial hyperlipidemia' EquivalentTo 'hyperlipidemia' and ('has modifier' some 'inherited') 'familial hyperlipidemia' EquivalentTo 'hyperlipidemia' and ('bearer_of' some 'inherited') http://purl.obolibrary.org/obo/MONDO_0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'has modifier' some 'congenital' 'congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0001347 facioscapulohumeral muscular dystrophy 'facioscapulohumeral muscular dystrophy' SubClassOf 'genetic nervous system disorder' 'facioscapulohumeral muscular dystrophy' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0013325 COG5-CDG 'COG5-CDG' SubClassOf 'neurometabolic disease' 'COG5-CDG' SubClassOf 'congenital nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013334 cocoon syndrome 'cocoon syndrome' SubClassOf 'genetic disorder' 'cocoon syndrome' SubClassOf 'has modifier' some 'rare' 'cocoon syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015999 primary pigmented nodular adrenocortical disease 'primary pigmented nodular adrenocortical disease' SubClassOf 'has modifier' some 'rare' 'primary pigmented nodular adrenocortical disease' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015998 isolated ectopia lentis 'isolated ectopia lentis' SubClassOf 'has modifier' some 'has an isolated presentation' 'isolated ectopia lentis' SubClassOf 'lens position anomaly' 'isolated ectopia lentis' EquivalentTo 'lens position anomaly' and ('has modifier' some 'has an isolated presentation') 'isolated ectopia lentis' SubClassOf 'lens disease' http://purl.obolibrary.org/obo/MONDO_0013336 chromosome 19p13.13 deletion syndrome 'chromosome 19p13.13 deletion syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' 'chromosome 19p13.13 deletion syndrome' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0015997 ectopia lentis-chorioretinal dystrophy-myopia syndrome 'ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf 'lens position anomaly' 'ectopia lentis-chorioretinal dystrophy-myopia syndrome' SubClassOf 'lens disease' http://purl.obolibrary.org/obo/MONDO_0013342 hereditary spastic paraplegia 48 'hereditary spastic paraplegia 48' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013349 ALG11-CDG 'ALG11-CDG' SubClassOf 'congenital nervous system disorder' 'ALG11-CDG' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0001134 essential hypertension 'essential hypertension' SubClassOf http://purl.obolibrary.org/obo/MONDO_0005044 http://purl.obolibrary.org/obo/MONDO_0015776 rhizomelic chondrodysplasia punctata 'rhizomelic chondrodysplasia punctata' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 'acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0013118 Nijmegen breakage syndrome-like disorder 'Nijmegen breakage syndrome-like disorder' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome without intellectual disability' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'developmental anomaly of metabolic origin' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'bearer_of' some 'rare' 'Nijmegen breakage syndrome-like disorder' SubClassOf 'DNA repair deficiency' http://purl.obolibrary.org/obo/MONDO_0015779 45,X/46,XY mixed gonadal dysgenesis '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'has modifier' some 'mosaic' '45,X/46,XY mixed gonadal dysgenesis' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015778 syndromic hypothyroidism 'syndromic hypothyroidism' EquivalentTo 'hypothyroidism' and ('has modifier' some 'has a syndromic presentation') 'syndromic hypothyroidism' EquivalentTo 'hypothyroidism' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0013116 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'syndromic genetic hearing loss' 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'syndromic cataract' 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'congenital nervous system disorder' 'congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0015771 mosaic trisomy 7 'mosaic trisomy 7' SubClassOf 'has modifier' some 'mosaic' 'mosaic trisomy 7' SubClassOf 'bearer_of' some 'mosaic' http://purl.obolibrary.org/obo/MONDO_0015770 congenital hypogonadotropic hypogonadism 'congenital hypogonadotropic hypogonadism' SubClassOf 'genetic infertility' http://purl.obolibrary.org/obo/MONDO_0001149 microcephaly 'microcephaly' SubClassOf 'congenital nervous system disorder' 'microcephaly' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0001152 amnestic disorder 'amnestic disorder' SubClassOf 'cognitive disorder' 'amnestic disorder' SubClassOf http://purl.obolibrary.org/obo/MONDO_0002039 http://purl.obolibrary.org/obo/MONDO_0015798 inflammatory myofibroblastic tumor 'inflammatory myofibroblastic tumor' SubClassOf 'has modifier' some 'rare' 'inflammatory myofibroblastic tumor' SubClassOf 'bearer_of' some 'rare' 'inflammatory myofibroblastic tumor' SubClassOf 'material entity' http://purl.obolibrary.org/obo/MONDO_0015792 transient congenital hypothyroidism 'transient congenital hypothyroidism' SubClassOf 'congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0015791 peripheral precocious puberty 'peripheral precocious puberty' DisjointWith 'central precocious puberty' 'peripheral precocious puberty' DisjointWith 'Central precocious puberty' http://purl.obolibrary.org/obo/MONDO_0001182 idiopathic corneal edema 'idiopathic corneal edema' EquivalentTo 'corneal edema' and ('has modifier' some 'idiopathic') 'idiopathic corneal edema' EquivalentTo 'corneal edema' and ('bearer_of' some 'idiopathic') http://purl.obolibrary.org/obo/MONDO_0013169 chromosome 5p13 duplication syndrome 'chromosome 5p13 duplication syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 5p13 duplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0013166 GABA aminotransferase deficiency 'GABA aminotransferase deficiency' SubClassOf 'cerebral organic aciduria' 'GABA aminotransferase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013161 autosomal recessive limb-girdle muscular dystrophy type 2O 'autosomal recessive limb-girdle muscular dystrophy type 2O' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013164 beta-ureidopropionase deficiency 'beta-ureidopropionase deficiency' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0013162 autosomal recessive limb-girdle muscular dystrophy type 2N 'autosomal recessive limb-girdle muscular dystrophy type 2N' SubClassOf 'neurometabolic disease' http://purl.obolibrary.org/obo/MONDO_0001198 acquired thrombocytopenia 'acquired thrombocytopenia' SubClassOf 'has modifier' some 'acquired' 'acquired thrombocytopenia' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0013178 congenital muscular dystrophy due to LMNA mutation 'congenital muscular dystrophy due to LMNA mutation' SubClassOf 'genetic nervous system disorder' http://purl.obolibrary.org/obo/MONDO_0013172 polymicrogyria with optic nerve hypoplasia 'polymicrogyria with optic nerve hypoplasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0013182 chromosome 17p13.3 duplication syndrome 'chromosome 17p13.3 duplication syndrome' SubClassOf 'genetic nervous system disorder' 'chromosome 17p13.3 duplication syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0013187 factor XIII, A subunit, deficiency of 'factor XIII, A subunit, deficiency of' SubClassOf 'inherited blood coagulation disorder' http://www.orpha.net/ORDO/Orphanet_140944 CLOVE syndrome 'CLOVE syndrome' SubClassOf 'genetic skin disease' http://purl.obolibrary.org/obo/MONDO_0015802 autosomal dominant non-syndromic intellectual disability 'autosomal dominant non-syndromic intellectual disability' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015829 non-syndromic uterovaginal malformation 'non-syndromic uterovaginal malformation' EquivalentTo 'uterovaginal malformation' and ('has modifier' some 'has an isolated presentation') 'non-syndromic uterovaginal malformation' EquivalentTo 'uterovaginal malformation' and ('bearer_of' some 'has an isolated presentation') http://purl.obolibrary.org/obo/MONDO_0015823 primary immunodeficiency due to a defect in adaptive immunity 'primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'has modifier' some 'rare' 'primary immunodeficiency due to a defect in adaptive immunity' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0015822 acquired neutropenia 'acquired neutropenia' SubClassOf 'has modifier' some 'acquired' 'acquired neutropenia' EquivalentTo 'neutropenia' and ('has modifier' some 'acquired') 'acquired neutropenia' EquivalentTo 'neutropenia' and ('bearer_of' some 'acquired') 'acquired neutropenia' SubClassOf 'bearer_of' some 'acquired' http://purl.obolibrary.org/obo/MONDO_0015846 syndromic uterovaginal malformation 'syndromic uterovaginal malformation' EquivalentTo 'uterovaginal malformation' and ('has modifier' some 'has a syndromic presentation') 'syndromic uterovaginal malformation' EquivalentTo 'uterovaginal malformation' and ('bearer_of' some 'has a syndromic presentation') http://purl.obolibrary.org/obo/MONDO_0015855 isolated congenital breast hypoplasia/aplasia 'isolated congenital breast hypoplasia/aplasia' SubClassOf 'has modifier' some 'rare' 'isolated congenital breast hypoplasia/aplasia' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001222 congenital T-cell immunodeficiency 'congenital T-cell immunodeficiency' SubClassOf 'has modifier' some 'congenital' 'congenital T-cell immunodeficiency' SubClassOf 'bearer_of' some 'congenital' http://purl.obolibrary.org/obo/MONDO_0013208 cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'genetic nervous system disorder' 'cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome' SubClassOf 'bearer_of' some 'rare' http://purl.obolibrary.org/obo/MONDO_0001230 acute orbital inflammation 'acute orbital inflammation' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0013227 congenital plasminogen activator inhibitor type 1 deficiency 'congenital plasminogen activator inhibitor type 1 deficiency' SubClassOf 'inherited blood coagulation disorder' http://purl.obolibrary.org/obo/MONDO_0013225 congenital generalized lipodystrophy type 4 'congenital generalized lipodystrophy type 4' SubClassOf 'has modifier' some 'congenital' 'congenital generalized lipodystrophy type 4' SubClassOf 'non-dystrophic myopathy' 'congenital generalized lipodystrophy type 4' SubClassOf 'bearer_of' some 'congenital' 'congenital generalized lipodystrophy type 4' SubClassOf 'myopathy' http://purl.obolibrary.org/obo/MONDO_0013226 combined immunodeficiency with faciooculoskeletal anomalies 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'combined immunodeficiency with faciooculoskeletal anomalies' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' http://www.ebi.ac.uk/efo/EFO_0022019 R-spondin-4 measurement 'R-spondin-4 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022018 extracellular superoxide dismutase [Cu-Zn] measurement 'extracellular superoxide dismutase [Cu-Zn] measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022015 tropomyosin alpha-4 chain measurement 'tropomyosin alpha-4 chain measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022014 N-terminal pro-BNP measurement 'N-terminal pro-BNP measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022017 somatotropin measurement 'somatotropin measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022016 appetite-regulating hormone measurement 'appetite-regulating hormone measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022011 14-3-3 protein theta measurement '14-3-3 protein theta measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022010 leukocyte surface antigen CD47 measurement 'leukocyte surface antigen CD47 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022013 myosin-binding protein C; slow-type measurement 'myosin-binding protein C; slow-type measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022012 vesicular integral-membrane protein VIP36 measurement 'vesicular integral-membrane protein VIP36 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022008 polyUbiquitin K63-linked measurement 'polyUbiquitin K63-linked measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022007 polyUbiquitin K48-linked measurement 'polyUbiquitin K48-linked measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022009 netrin-1 measurement 'netrin-1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022004 thrombopoietin measurement 'thrombopoietin measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022003 WNT1-inducible-signaling pathway protein 3 measurement 'WNT1-inducible-signaling pathway protein 3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022006 cellular tumor antigen p53 measurement 'cellular tumor antigen p53 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022005 dual specificity mitogen-activated protein kinase kinase 3 measurement 'dual specificity mitogen-activated protein kinase kinase 3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022000 gastrin-releasing peptide measurement 'gastrin-releasing peptide measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022002 protein S100-A7 measurement 'protein S100-A7 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022001 peroxisomal targeting signal 1 receptor measurement 'peroxisomal targeting signal 1 receptor measurement' SubClassOf 'protein measurement' http://purl.obolibrary.org/obo/MONDO_0033204 ciliary dyskinesia, primary, 37 'ciliary dyskinesia, primary, 37' SubClassOf 'primary ciliary dyskinesia' http://www.ebi.ac.uk/efo/EFO_0022037 pro-opiomelanocortin measurement 'pro-opiomelanocortin measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022036 ATP synthase subunit O; mitochondrial measurement 'ATP synthase subunit O; mitochondrial measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022038 cathepsin F measurement 'cathepsin F measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0022033 CD63 antigen measurement 'CD63 antigen measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022032 C-X-C motif chemokine 9 measurement 'C-X-C motif chemokine 9 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022035 ubiquitin-conjugating enzyme E2 G2 measurement 'ubiquitin-conjugating enzyme E2 G2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022034 galectin-7 measurement 'galectin-7 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022031 low-density lipoprotein receptor-related protein 1; soluble measurement 'low-density lipoprotein receptor-related protein 1; soluble measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022030 interferon gamma receptor 2 measurement 'interferon gamma receptor 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022029 neuregulin-1 measurement 'neuregulin-1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022026 interleukin-17A measurement 'interleukin-17A measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022025 small ubiquitin-related modifier 3 measurement 'small ubiquitin-related modifier 3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022028 down syndrome cell adhesion molecule measurement 'down syndrome cell adhesion molecule measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022027 cysteine and glycine-rich protein 3 measurement 'cysteine and glycine-rich protein 3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022022 EGF-containing fibulin-like extracellular matrix protein 1 measurement 'EGF-containing fibulin-like extracellular matrix protein 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022021 chromogranin-A measurement 'chromogranin-A measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022024 C-C motif chemokine 26 measurement 'C-C motif chemokine 26 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022023 kelch-like ECH-associated protein 1 measurement 'kelch-like ECH-associated protein 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0022020 ribonuclease H1 measurement 'ribonuclease H1 measurement' SubClassOf 'protein measurement' http://purl.obolibrary.org/obo/MONDO_0035682 fibrous dysplasia/McCune-Albright syndrome 'fibrous dysplasia/McCune-Albright syndrome' SubClassOf 'syndromic disease' http://purl.obolibrary.org/obo/MONDO_0800180 CPOX-related hereditary coproporphyria 'CPOX-related hereditary coproporphyria' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0800181 OPA1-related optic atrophy with or without extraocular features 'OPA1-related optic atrophy with or without extraocular features' SubClassOf 'inborn mitochondrial metabolism disorder' 'OPA1-related optic atrophy with or without extraocular features' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0800183 PAX6-related ocular dysgenesis 'PAX6-related ocular dysgenesis' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0800174 encephalitis, acute, infection-induced, susceptibility to 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf 'inherited disease susceptibility' 'encephalitis, acute, infection-induced, susceptibility to' SubClassOf 'predisposes towards' some 'encephalopathy, acute, infection-induced' http://purl.obolibrary.org/obo/MONDO_0800188 malignant hyperthermia, susceptibility to 'malignant hyperthermia, susceptibility to' SubClassOf 'inherited disease susceptibility' http://purl.obolibrary.org/obo/MONDO_0800153 urea cycle disorder or inherited hyperammonemia 'urea cycle disorder or inherited hyperammonemia' SubClassOf 'urea cycle disorder' http://purl.obolibrary.org/obo/MONDO_0800159 disorder of polyamine metabolism 'disorder of polyamine metabolism' SubClassOf 'disorder of peptide and amine metabolism' http://purl.obolibrary.org/obo/MONDO_0800152 disorder of galactose and fructose metabolism 'disorder of galactose and fructose metabolism' SubClassOf 'inborn carbohydrate metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0800113 necrotizing vasculitis 'necrotizing vasculitis' SubClassOf 'vasculitis' http://purl.obolibrary.org/obo/MONDO_0006715 coronary stenosis 'coronary stenosis' SubClassOf 'coronary artery disease' http://purl.obolibrary.org/obo/MONDO_0018348 obsolete polyglucosan body myopathy type 1 'obsolete polyglucosan body myopathy type 1' SubClassOf http://www.w3.org/2002/07/owl#Thing http://purl.obolibrary.org/obo/HP_0000349 Widow's peak 'Widow's peak' SubClassOf 'High anterior hairline' http://purl.obolibrary.org/obo/MONDO_0008862 3-methylcrotonyl-CoA carboxylase 2 deficiency '3-methylcrotonyl-CoA carboxylase 2 deficiency' SubClassOf '3-methylcrotonyl-CoA carboxylase deficiency' http://purl.obolibrary.org/obo/MONDO_0018177 glioblastoma 'glioblastoma' SubClassOf 'high grade astrocytic tumor' http://purl.obolibrary.org/obo/MONDO_0021636 astrocytic tumor 'astrocytic tumor' SubClassOf 'glioma' http://purl.obolibrary.org/obo/MONDO_0033673 spermatogenic failure 46 'spermatogenic failure 46' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0033671 spermatogenic failure 45 'spermatogenic failure 45' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0014366 spermatogenic failure 14 'spermatogenic failure 14' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' 'spermatogenic failure 14' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0014365 spermatogenic failure 13 'spermatogenic failure 13' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' 'spermatogenic failure 13' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/EFO_0700012 library preparation for spatial transcriptomics 'library preparation for spatial transcriptomics' SubClassOf 'library preparation' http://purl.obolibrary.org/obo/EFO_0700010 TruDrop 'TruDrop' SubClassOf 'single cell library construction' 'TruDrop' SubClassOf 'has_part' some 'inDrop' http://purl.obolibrary.org/obo/EFO_0700011 GEXSCOPE technology 'GEXSCOPE technology' SubClassOf 'single cell library construction' http://purl.obolibrary.org/obo/MONDO_0004985 bipolar disorder 'bipolar disorder' SubClassOf 'mood disorder' 'bipolar disorder' SubClassOf 'disease has feature' some 'recurrent hypersomnia' http://purl.obolibrary.org/obo/MONDO_0004992 cancer 'cancer' DisjointWith 'benign neoplasm' 'cancer' SubClassOf 'neoplasm' http://purl.obolibrary.org/obo/MONDO_0014166 paroxysmal nocturnal hemoglobinuria 2 'paroxysmal nocturnal hemoglobinuria 2' SubClassOf 'paroxysmal nocturnal hemoglobinuria' http://purl.obolibrary.org/obo/MONDO_0002039 cognitive disorder 'cognitive disorder' SubClassOf 'psychiatric disorder' 'cognitive disorder' SubClassOf 'mental or behavioural disorder' http://purl.obolibrary.org/obo/MONDO_0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' http://purl.obolibrary.org/obo/MONDO_0014037 spermatogenic failure 11 'spermatogenic failure 11' SubClassOf 'azoospermia' 'spermatogenic failure 11' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0014071 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11' SubClassOf 'muscle-eye-brain disease' http://purl.obolibrary.org/obo/MONDO_0100498 UROD-related inherited porphyria 'UROD-related inherited porphyria' SubClassOf 'inherited porphyria' http://purl.obolibrary.org/obo/MONDO_0100473 disorder of peptide and amine metabolism 'disorder of peptide and amine metabolism' SubClassOf 'inborn errors of metabolism' http://purl.obolibrary.org/obo/MONDO_0100477 disorder of methylamine metabolism 'disorder of methylamine metabolism' SubClassOf 'disorder of peptide and amine metabolism' http://purl.obolibrary.org/obo/MONDO_0100510 spondyloepimetaphyseal dysplasia 'spondyloepimetaphyseal dysplasia' SubClassOf 'skeletal dysplasia' 'spondyloepimetaphyseal dysplasia' SubClassOf 'osteochondrodysplasia' http://purl.obolibrary.org/obo/MONDO_0100514 familial ovarian carcinoma 'familial ovarian carcinoma' SubClassOf 'familial ovarian cancer' 'familial ovarian carcinoma' EquivalentTo 'ovarian carcinoma' and ('bearer_of' some 'inherited') 'familial ovarian carcinoma' SubClassOf 'ovarian carcinoma' http://purl.obolibrary.org/obo/MONDO_0100515 mirror movements 1 and/or agenesis of the corpus callosum 'mirror movements 1 and/or agenesis of the corpus callosum' SubClassOf 'familial congenital mirror movements' http://purl.obolibrary.org/obo/MONDO_0100500 Mendelian neurodevelopmental disorder 'Mendelian neurodevelopmental disorder' SubClassOf 'genetic disorder' 'Mendelian neurodevelopmental disorder' EquivalentTo 'Neurodevelopmental disorder' and ('bearer_of' some 'inherited') 'Mendelian neurodevelopmental disorder' SubClassOf 'Neurodevelopmental disorder' http://purl.obolibrary.org/obo/MONDO_0100509 IFT140-related recessive ciliopathy 'IFT140-related recessive ciliopathy' SubClassOf 'ciliopathy' http://purl.obolibrary.org/obo/MONDO_0100440 Asperger syndrome, susceptibility to 'Asperger syndrome, susceptibility to' SubClassOf 'inherited disease susceptibility' 'Asperger syndrome, susceptibility to' SubClassOf 'predisposes towards' some 'Asperger syndrome' 'Asperger syndrome, susceptibility to' EquivalentTo 'inherited disease susceptibility' and ('predisposes towards' some 'Asperger syndrome') http://purl.obolibrary.org/obo/MONDO_0100279 peroxisome biogenesis disorder due to PEX11B defect 'peroxisome biogenesis disorder due to PEX11B defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100267 peroxisome biogenesis disorder due to PEX13 defect 'peroxisome biogenesis disorder due to PEX13 defect' SubClassOf 'Zellweger spectrum disorders' http://purl.obolibrary.org/obo/MONDO_0100244 paroxysmal nocturnal hemoglobinuria 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'normocytic anemia' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'aplastic anemia' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'hemoglobinuria' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'acquired metabolic disease' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'disorder of GPI anchor biosynthesis' 'paroxysmal nocturnal hemoglobinuria' SubClassOf 'bearer_of' some 'acquired' http://www.ebi.ac.uk/efo/EFO_0801059 4-chlorobenzoic acid measurement '4-chlorobenzoic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801058 3-bromo-5-chloro-2,6-dihydroxybenzoic acid measurement '3-bromo-5-chloro-2,6-dihydroxybenzoic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801057 2-methoxyhydroquinone glucuronide (2) measurement '2-methoxyhydroquinone glucuronide (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801056 vanillic acid glycine measurement 'vanillic acid glycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801055 (S)-a-amino-omega-caprolactam measurement '(S)-a-amino-omega-caprolactam measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801065 phytanate measurement 'phytanate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801064 gluconate measurement 'gluconate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801063 methyl indole-3-acetate measurement 'methyl indole-3-acetate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801062 2-methoxyhydroquinone sulfate (2) measurement '2-methoxyhydroquinone sulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801061 2-methoxyhydroquinone sulfate (1) measurement '2-methoxyhydroquinone sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801060 N-acetyl-4-chlorophenylalanine measurement 'N-acetyl-4-chlorophenylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801069 ribulonate measurement 'ribulonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801068 N-acetylglucosamine measurement 'N-acetylglucosamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801067 xylitol measurement 'xylitol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801066 arabonate measurement 'arabonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801075 platelet-activating factor measurement 'platelet-activating factor measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801074 allopregnanolone sulfate measurement 'allopregnanolone sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801073 butyrate (4:0) measurement 'butyrate (4:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801072 oleate (18:1) measurement 'oleate (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801071 2-methylcitrate measurement '2-methylcitrate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801070 xylulonate measurement 'xylulonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801039 (2,4 or 2,5)-dimethylphenol sulfate measurement '(2,4 or 2,5)-dimethylphenol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801038 2-naphthol sulfate measurement '2-naphthol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801037 sulfate of piperine metabolite C18H21NO3 (3) measurement 'sulfate of piperine metabolite C18H21NO3 (3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801036 sulfate of piperine metabolite C18H21NO3 (1) measurement 'sulfate of piperine metabolite C18H21NO3 (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801035 sulfate of piperine metabolite C16H19NO3 (3) measurement 'sulfate of piperine metabolite C16H19NO3 (3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801034 sulfate of piperine metabolite C16H19NO3 (2) measurement 'sulfate of piperine metabolite C16H19NO3 (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801033 glucuronide of piperine metabolite C17H21NO3 (5) measurement 'glucuronide of piperine metabolite C17H21NO3 (5) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801043 3-hydroxypyridine glucuronide measurement '3-hydroxypyridine glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801042 2-hydroxyfluorene sulfate measurement '2-hydroxyfluorene sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801041 4-allylcatechol sulfate measurement '4-allylcatechol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801040 4-ethylcatechol sulfate measurement '4-ethylcatechol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801049 4-acetylcatechol sulfate (1) measurement '4-acetylcatechol sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801048 3-ethylcatechol sulfate (2) measurement '3-ethylcatechol sulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801047 3-ethylcatechol sulfate (1) measurement '3-ethylcatechol sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801046 2,6-dihydroxybenzoic acid measurement '2,6-dihydroxybenzoic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801045 3-(methylthio)acetaminophen sulfate measurement '3-(methylthio)acetaminophen sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801044 dihydrocaffeate sulfate (2) measurement 'dihydrocaffeate sulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801054 3,5-dichloro-2,6-dihydroxybenzoic acid measurement '3,5-dichloro-2,6-dihydroxybenzoic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801053 5-hydroxymethyl-2-furoylcarnitine measurement '5-hydroxymethyl-2-furoylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801052 3-hydroxy-2-methylpyridine sulfate measurement '3-hydroxy-2-methylpyridine sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801051 5-hydroxy-2-methylpyridine sulfate measurement '5-hydroxy-2-methylpyridine sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801050 4-acetylcatechol sulfate (2) measurement '4-acetylcatechol sulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801018 perfluorooctanesulfonate (PFOS) measurement 'perfluorooctanesulfonate (PFOS) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801017 ferulylglycine (2) measurement 'ferulylglycine (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801016 ferulylglycine (1) measurement 'ferulylglycine (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801015 naringenin 7-glucuronide measurement 'naringenin 7-glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801014 4-acetamidobenzoate measurement '4-acetamidobenzoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801013 caffeic acid sulfate measurement 'caffeic acid sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801012 thioproline measurement 'thioproline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801011 3,4-methyleneheptanoate measurement '3,4-methyleneheptanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801019 ethyl alpha-glucopyranoside measurement 'ethyl alpha-glucopyranoside measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801021 methylnaphthyl sulfate (2) measurement 'methylnaphthyl sulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801020 methylnaphthyl sulfate (1) measurement 'methylnaphthyl sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801029 enterolactone sulfate measurement 'enterolactone sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801028 ethyl beta-glucopyranoside measurement 'ethyl beta-glucopyranoside measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801027 3-indoleglyoxylic acid measurement '3-indoleglyoxylic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801026 dihydroferulic acid sulfate measurement 'dihydroferulic acid sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801025 3-formylindole measurement '3-formylindole measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801024 perfluorooctanoate (PFOA) measurement 'perfluorooctanoate (PFOA) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801023 genistein sulfate measurement 'genistein sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801022 3-hydroxystachydrine measurement '3-hydroxystachydrine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801032 glucuronide of piperine metabolite C17H21NO3 (4) measurement 'glucuronide of piperine metabolite C17H21NO3 (4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801031 glucuronide of piperine metabolite C17H21NO3 (3) measurement 'glucuronide of piperine metabolite C17H21NO3 (3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801030 3-hydroxyhippurate sulfate measurement '3-hydroxyhippurate sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801007 daidzein sulfate (2) measurement 'daidzein sulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801006 umbelliferone sulfate measurement 'umbelliferone sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801005 propyl 4-hydroxybenzoate sulfate measurement 'propyl 4-hydroxybenzoate sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801004 6-hydroxyindole sulfate measurement '6-hydroxyindole sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801003 syringol sulfate measurement 'syringol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801002 acesulfame measurement 'acesulfame measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801001 2-acetamidophenol sulfate measurement '2-acetamidophenol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801000 2-methoxyresorcinol sulfate measurement '2-methoxyresorcinol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801009 3-methoxycatechol sulfate (1) measurement '3-methoxycatechol sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801008 1,2,3-benzenetriol sulfate (2) measurement '1,2,3-benzenetriol sulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0801010 3-methoxycatechol sulfate (2) measurement '3-methoxycatechol sulfate (2) measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0014959 mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant 'mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0700111 bacterial pneumonia, non-human animal 'bacterial pneumonia, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'bacterial pneumonia') 'bacterial pneumonia, non-human animal' SubClassOf 'cross-species analog' some 'bacterial pneumonia' 'bacterial pneumonia, non-human animal' SubClassOf 'pneumonia, non-human animal' http://purl.obolibrary.org/obo/MONDO_0700110 pneumonia, non-human animal 'pneumonia, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'pneumonia') 'pneumonia, non-human animal' SubClassOf 'cross-species analog' some 'pneumonia' 'pneumonia, non-human animal' SubClassOf 'respiratory system disorder, non-human animal' http://purl.obolibrary.org/obo/MONDO_0700109 skin disease caused by bacterial infection, non-human animal 'skin disease caused by bacterial infection, non-human animal' SubClassOf 'infectious disease' 'skin disease caused by bacterial infection, non-human animal' SubClassOf 'cross-species analog' some 'skin disease caused by bacterial infection' 'skin disease caused by bacterial infection, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'skin disease caused by bacterial infection') http://purl.obolibrary.org/obo/MONDO_0700106 immune system disorder, non-human animal 'immune system disorder, non-human animal' SubClassOf 'animal disease' 'immune system disorder, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'immune system disease') 'immune system disorder, non-human animal' SubClassOf 'cross-species analog' some 'immune system disease' http://purl.obolibrary.org/obo/MONDO_0700105 difference of sexual differentiation, non-human animal 'difference of sexual differentiation, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'disorder of sexual differentiation') 'difference of sexual differentiation, non-human animal' SubClassOf 'cross-species analog' some 'disorder of sexual differentiation' 'difference of sexual differentiation, non-human animal' SubClassOf 'cross-species analog' some 'difference of sexual differentiation, non-human animal' 'difference of sexual differentiation, non-human animal' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0700108 prion disease, non-human animal 'prion disease, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'prion disease') 'prion disease, non-human animal' SubClassOf 'animal disease' 'prion disease, non-human animal' SubClassOf 'cross-species analog' some 'prion disease' http://purl.obolibrary.org/obo/MONDO_0700102 lymphoma, non-human animal 'lymphoma, non-human animal' SubClassOf 'neoplasm, non-human animal' 'lymphoma, non-human animal' SubClassOf 'cross-species analog' some 'lymphoma' 'lymphoma, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'lymphoma') http://purl.obolibrary.org/obo/MONDO_0700101 carcinoma, non-human animal 'carcinoma, non-human animal' SubClassOf 'neoplasm, non-human animal' 'carcinoma, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'carcinoma') 'carcinoma, non-human animal' SubClassOf 'cross-species analog' some 'carcinoma' http://purl.obolibrary.org/obo/MONDO_0700104 respiratory system disorder, non-human animal 'respiratory system disorder, non-human animal' SubClassOf 'cross-species analog' some 'respiratory system disease' 'respiratory system disorder, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'respiratory system disease') 'respiratory system disorder, non-human animal' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0700103 nutritional deficiency disease, non-human animal 'nutritional deficiency disease, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'nutritional deficiency disease') 'nutritional deficiency disease, non-human animal' SubClassOf 'cross-species analog' some 'nutritional deficiency disease' 'nutritional deficiency disease, non-human animal' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0700100 leukemia, non-human animal 'leukemia, non-human animal' SubClassOf 'immune system disorder, non-human animal' 'leukemia, non-human animal' SubClassOf 'neoplasm, non-human animal' 'leukemia, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'leukemia') 'leukemia, non-human animal' SubClassOf 'cross-species analog' some 'leukemia' http://purl.obolibrary.org/obo/MONDO_0700098 neoplasm, non-human animal 'neoplasm, non-human animal' SubClassOf 'animal disease' 'neoplasm, non-human animal' SubClassOf 'cross-species analog' some 'neoplasm' 'neoplasm, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'neoplasm') http://purl.obolibrary.org/obo/MONDO_0700099 adenocarcinoma, non-human animal 'adenocarcinoma, non-human animal' SubClassOf 'carcinoma, non-human animal' 'adenocarcinoma, non-human animal' SubClassOf 'cross-species analog' some 'adenocarcinoma' 'adenocarcinoma, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'adenocarcinoma') http://purl.obolibrary.org/obo/MONDO_0014847 spermatogenic failure 15 'spermatogenic failure 15' SubClassOf 'azoospermia' 'spermatogenic failure 15' SubClassOf 'male infertility with azoospermia or oligozoospermia due to single gene mutation' http://purl.obolibrary.org/obo/MONDO_0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2' SubClassOf 'progressive external ophthalmoplegia with mitochondrial DNA deletions' 'progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2' SubClassOf 'adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy' http://purl.obolibrary.org/obo/MONDO_0014444 Bardet-Biedl syndrome 16 'Bardet-Biedl syndrome 16' SubClassOf 'Bardet-Biedl syndrome' http://purl.obolibrary.org/obo/MONDO_0014478 mirror movements 3 'mirror movements 3' SubClassOf 'familial congenital mirror movements' http://purl.obolibrary.org/obo/MONDO_0014481 inflammatory skin and bowel disease, neonatal, 2 'inflammatory skin and bowel disease, neonatal, 2' SubClassOf 'neonatal inflammatory skin and bowel disease' http://purl.obolibrary.org/obo/MONDO_0010438 paroxysmal nocturnal hemoglobinuria 1 'paroxysmal nocturnal hemoglobinuria 1' SubClassOf 'paroxysmal nocturnal hemoglobinuria' http://purl.obolibrary.org/obo/MONDO_0024905 bird disease 'bird disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0024950 horse disease 'horse disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0024945 hepatitis, non-human animal 'hepatitis, non-human animal' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0024965 muscular dystrophy, non-human animal 'muscular dystrophy, non-human animal' SubClassOf 'animal disease' 'muscular dystrophy, non-human animal' EquivalentTo 'disease' and ('cross-species analog' some 'muscular dystrophy') 'muscular dystrophy, non-human animal' SubClassOf 'cross-species analog' some 'muscular dystrophy' http://purl.obolibrary.org/obo/MONDO_0024990 swine disease 'swine disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0024985 sheep disease 'sheep disease' SubClassOf 'animal disease' http://purl.obolibrary.org/obo/MONDO_0009364 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1' SubClassOf 'muscular dystrophy-dystroglycanopathy, type A' 'muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1' SubClassOf 'myopathy caused by variation in POMT1' http://purl.obolibrary.org/obo/MONDO_0007915 systemic lupus erythematosus 'systemic lupus erythematosus' SubClassOf 'has_disease_location' some 'skeletal joint' 'systemic lupus erythematosus' SubClassOf 'thrombotic microangiopathy' 'systemic lupus erythematosus' SubClassOf 'lupus erythematosus' 'systemic lupus erythematosus' SubClassOf 'autoimmune disease' 'systemic lupus erythematosus' SubClassOf 'secondary glomerular disease' http://purl.obolibrary.org/obo/MONDO_0020858 mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5 'mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5' SubClassOf 'mitochondrial complex deficiency' http://purl.obolibrary.org/obo/MONDO_0032874 ciliary dyskinesia, primary, 43 'ciliary dyskinesia, primary, 43' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0032799 mitochondrial DNA depletion syndrome 16 (hepatic type) 'mitochondrial DNA depletion syndrome 16 (hepatic type)' SubClassOf 'mitochondrial DNA depletion syndrome' http://purl.obolibrary.org/obo/MONDO_0032637 ciliary dyskinesia, primary, 39 'ciliary dyskinesia, primary, 39' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0005044 hypertensive disorder 'hypertensive disorder' SubClassOf 'arterial disorder' http://purl.obolibrary.org/obo/MONDO_0005041 glaucoma 'glaucoma' SubClassOf 'eye disease' 'glaucoma' SubClassOf 'has_disease_location' some 'eye' http://purl.obolibrary.org/obo/MONDO_0032641 mirror movements 4 'mirror movements 4' SubClassOf 'familial congenital mirror movements' http://purl.obolibrary.org/obo/MONDO_0032664 ciliary dyskinesia, primary, 40 'ciliary dyskinesia, primary, 40' SubClassOf 'primary ciliary dyskinesia' http://purl.obolibrary.org/obo/MONDO_0005098 stroke disorder 'stroke disorder' SubClassOf 'cerebrovascular disorder' http://purl.obolibrary.org/obo/MONDO_0044315 craniosynostosis 7 'craniosynostosis 7' SubClassOf 'predisposes towards' some 'craniosynostosis' 'craniosynostosis 7' SubClassOf 'inherited disease susceptibility' http://www.ebi.ac.uk/efo/EFO_0800622 methylmalonate (MMA) measurement 'methylmalonate (MMA) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800621 myo-inositol measurement 'myo-inositol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800620 glutarate (C5-DC) measurement 'glutarate (C5-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800629 N6-carbamoylthreonyladenosine measurement 'N6-carbamoylthreonyladenosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800628 N4-acetylcytidine measurement 'N4-acetylcytidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800627 N1-methylinosine measurement 'N1-methylinosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800626 N-stearoyl-sphinganine (d18:0/18:0) measurement 'N-stearoyl-sphinganine (d18:0/18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800625 arachidate (20:0) measurement 'arachidate (20:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800624 12,13-DiHOME measurement '12,13-DiHOME measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800623 pristanate measurement 'pristanate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800633 3-methylcytidine measurement '3-methylcytidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800632 3-(3-amino-3-carboxypropyl)uridine measurement '3-(3-amino-3-carboxypropyl)uridine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800631 5,6-dihydrouridine measurement '5,6-dihydrouridine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800630 orotidine measurement 'orotidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800639 N6-methyladenosine measurement 'N6-methyladenosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800638 5,6-dihydrothymine measurement '5,6-dihydrothymine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800637 5,6-dihydrouracil measurement '5,6-dihydrouracil measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800636 2'-O-methyluridine measurement '2'-O-methyluridine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800635 2'-O-methylcytidine measurement '2'-O-methylcytidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800634 N2-methylguanosine measurement 'N2-methylguanosine measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0025003 goat disease 'goat disease' SubClassOf 'animal disease' http://www.ebi.ac.uk/efo/EFO_0800600 phosphoethanolamine measurement 'phosphoethanolamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800608 1-palmitoyl-2-oleoyl-GPE (16:0/18:1) measurement '1-palmitoyl-2-oleoyl-GPE (16:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800607 N-palmitoyl-sphingosine (d18:1/16:0) measurement 'N-palmitoyl-sphingosine (d18:1/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800606 estrone 3-sulfate measurement 'estrone 3-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800605 isobutyrate (4:0) measurement 'isobutyrate (4:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800604 oleoyl ethanolamide measurement 'oleoyl ethanolamide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800603 valerate (5:0) measurement 'valerate (5:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800602 3-hydroxy-3-methylglutarate measurement '3-hydroxy-3-methylglutarate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800601 erucate (22:1n9) measurement 'erucate (22:1n9) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800609 1-palmitoyl-2-linoleoyl-GPI (16:0/18:2) measurement '1-palmitoyl-2-linoleoyl-GPI (16:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800611 stearoyl sphingomyelin (d18:1/18:0) measurement 'stearoyl sphingomyelin (d18:1/18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800610 1-palmitoyl-2-linoleoyl-GPC (16:0/18:2) measurement '1-palmitoyl-2-linoleoyl-GPC (16:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800619 sphinganine measurement 'sphinganine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800618 sphingosine measurement 'sphingosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800617 choline phosphate measurement 'choline phosphate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800616 eicosapentaenoate (EPA; 20:5n3) measurement 'eicosapentaenoate (EPA; 20:5n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800615 azelate (C9-DC) measurement 'azelate (C9-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800614 linoleate (18:2n6) measurement 'linoleate (18:2n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800613 N-stearoyl-sphingosine (d18:1/18:0) measurement 'N-stearoyl-sphingosine (d18:1/18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800612 1-palmitoyl-2-oleoyl-GPC (16:0/18:1) measurement '1-palmitoyl-2-oleoyl-GPC (16:0/18:1) measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0025028 vesicular stomatitis 'vesicular stomatitis' SubClassOf 'Rhabdoviridae infectious disease' 'vesicular stomatitis' SubClassOf 'animal disease' 'vesicular stomatitis' SubClassOf 'cross-species analog' some 'stomatitis' 'vesicular stomatitis' EquivalentTo 'disease' and ('cross-species analog' some 'stomatitis') http://purl.obolibrary.org/obo/MONDO_0025085 hepatitis, viral, animal 'hepatitis, viral, animal' SubClassOf 'hepatitis, non-human animal' 'hepatitis, viral, animal' EquivalentTo 'disease' and ('cross-species analog' some 'viral human hepatitis infection') 'hepatitis, viral, animal' SubClassOf 'cross-species analog' some 'viral human hepatitis infection' http://www.ebi.ac.uk/efo/EFO_0800589 3-decenoylcarnitine measurement '3-decenoylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800588 undecenoylcarnitine (C11:1) measurement 'undecenoylcarnitine (C11:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800587 pregnenetriol disulfate measurement 'pregnenetriol disulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800586 pregnenetriol sulfate measurement 'pregnenetriol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800585 tetradecadienedioate (C14:2-DC) measurement 'tetradecadienedioate (C14:2-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800584 taurochenodeoxycholic acid 3-sulfate measurement 'taurochenodeoxycholic acid 3-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800583 hydroxypalmitoyl sphingomyelin (d18:1/16:0(OH)) measurement 'hydroxypalmitoyl sphingomyelin (d18:1/16:0(OH)) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800582 tetrahydrocortisol sulfate (1) measurement 'tetrahydrocortisol sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800592 picolinoylglycine measurement 'picolinoylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800591 palmitoyl-sphingosine-phosphoethanolamine (d18:1/16:0) measurement 'palmitoyl-sphingosine-phosphoethanolamine (d18:1/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800590 3-hydroxydecanoylcarnitine measurement '3-hydroxydecanoylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800599 deoxycholic acid (12 or 24)-sulfate measurement 'deoxycholic acid (12 or 24)-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800598 decadienedioic acid (C10:2-DC) measurement 'decadienedioic acid (C10:2-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800597 chenodeoxycholic acid sulfate (2) measurement 'chenodeoxycholic acid sulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800596 chenodeoxycholic acid sulfate (1) measurement 'chenodeoxycholic acid sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800595 isoursodeoxycholate sulfate (1) measurement 'isoursodeoxycholate sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800594 (2 or 3)-decenoate (10:1n7 or n8) measurement '(2 or 3)-decenoate (10:1n7 or n8) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800593 branched chain 14:0 dicarboxylic acid measurement 'branched chain 14:0 dicarboxylic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800567 N-acetyl-2-aminooctanoate measurement 'N-acetyl-2-aminooctanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800566 3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-CMPFP) measurement '3-carboxy-4-methyl-5-pentyl-2-furanpropionate (3-CMPFP) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800565 octadecadienedioate (C18:2-DC) measurement 'octadecadienedioate (C18:2-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800564 heptenedioate (C7:1-DC) measurement 'heptenedioate (C7:1-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800563 octadecenedioate (C18:1-DC) measurement 'octadecenedioate (C18:1-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800562 hexadecenedioate (C16:1-DC) measurement 'hexadecenedioate (C16:1-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800561 dodecenedioate (C12:1-DC) measurement 'dodecenedioate (C12:1-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800560 3-hydroxyoleate measurement '3-hydroxyoleate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800569 glyco-beta-muricholate measurement 'glyco-beta-muricholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800568 3-hydroxybutyroylglycine measurement '3-hydroxybutyroylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800570 tetradecadienoate (14:2) measurement 'tetradecadienoate (14:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800578 glycoursodeoxycholic acid sulfate (1) measurement 'glycoursodeoxycholic acid sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800577 1-nonadecenoyl-GPC (19:1) measurement '1-nonadecenoyl-GPC (19:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800576 4-methylhexanoylglutamine measurement '4-methylhexanoylglutamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800575 deoxycholic acid glucuronide measurement 'deoxycholic acid glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800574 cholic acid glucuronide measurement 'cholic acid glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800573 11beta-hydroxyandrosterone glucuronide measurement '11beta-hydroxyandrosterone glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800572 dodecadienoate (12:2) measurement 'dodecadienoate (12:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800571 2-hydroxysebacate measurement '2-hydroxysebacate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800579 lithocholate sulfate (1) measurement 'lithocholate sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800581 3-hydroxyhexanoylcarnitine (2) measurement '3-hydroxyhexanoylcarnitine (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800580 3-hydroxyhexanoylcarnitine (1) measurement '3-hydroxyhexanoylcarnitine (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800545 eicosenoylcarnitine (C20:1) measurement 'eicosenoylcarnitine (C20:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800544 arachidonoylcarnitine (C20:4) measurement 'arachidonoylcarnitine (C20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800543 ximenoylcarnitine (C26:1) measurement 'ximenoylcarnitine (C26:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800542 cerotoylcarnitine (C26) measurement 'cerotoylcarnitine (C26) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800541 lignoceroylcarnitine (C24) measurement 'lignoceroylcarnitine (C24) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800540 arachidoylcarnitine (C20) measurement 'arachidoylcarnitine (C20) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800549 nervonoylcarnitine (C24:1) measurement 'nervonoylcarnitine (C24:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800548 docosahexaenoylcarnitine (C22:6) measurement 'docosahexaenoylcarnitine (C22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800547 dihomo-linolenoylcarnitine (C20:3n3 or 6) measurement 'dihomo-linolenoylcarnitine (C20:3n3 or 6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800546 dihomo-linoleoylcarnitine (C20:2) measurement 'dihomo-linoleoylcarnitine (C20:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800556 2-butenoylglycine measurement '2-butenoylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800555 5-dodecenoylcarnitine (C12:1) measurement '5-dodecenoylcarnitine (C12:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800554 1-palmitoyl-2-pentadecanoyl-GPC (16:0/15:0) measurement '1-palmitoyl-2-pentadecanoyl-GPC (16:0/15:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800553 phosphatidylcholine (O-18:1/20:4, O-16:0/22:5n3) measurement 'phosphatidylcholine (O-18:1/20:4, O-16:0/22:5n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800552 cortolone glucuronide (1) measurement 'cortolone glucuronide (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800551 glycosyl ceramide (d18:1/20:0, d16:1/22:0) measurement 'glycosyl ceramide (d18:1/20:0, d16:1/22:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800550 docosapentaenoylcarnitine (C22:5n3) measurement 'docosapentaenoylcarnitine (C22:5n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800559 N-stearoylserine measurement 'N-stearoylserine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800558 2-hydroxyarachidate measurement '2-hydroxyarachidate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800557 hydroxy-CMPF measurement 'hydroxy-CMPF measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800523 2-hydroxynervonate measurement '2-hydroxynervonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800522 2-hydroxybehenate measurement '2-hydroxybehenate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800521 N-stearoyl-sphingadienine (d18:2/18:0) measurement 'N-stearoyl-sphingadienine (d18:2/18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800520 glycosyl-N-behenoyl-sphingadienine (d18:2/22:0) measurement 'glycosyl-N-behenoyl-sphingadienine (d18:2/22:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800529 hexadecasphingosine (d16:1) measurement 'hexadecasphingosine (d16:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800528 myristoyl-linoleoyl-glycerol (14:0/18:2) [2] measurement 'myristoyl-linoleoyl-glycerol (14:0/18:2) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800527 myristoyl-linoleoyl-glycerol (14:0/18:2) [1] measurement 'myristoyl-linoleoyl-glycerol (14:0/18:2) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800526 sphingadienine measurement 'sphingadienine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800525 N-oleoylserine measurement 'N-oleoylserine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800524 N-palmitoylserine measurement 'N-palmitoylserine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800534 stearoylcholine measurement 'stearoylcholine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800533 glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement 'glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800532 glycosyl ceramide (d18:2/24:1, d18:1/24:2) measurement 'glycosyl ceramide (d18:2/24:1, d18:1/24:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800531 N-palmitoyl-heptadecasphingosine (d17:1/16:0) measurement 'N-palmitoyl-heptadecasphingosine (d17:1/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800530 glycosyl ceramide (d16:1/24:1, d18:1/22:1) measurement 'glycosyl ceramide (d16:1/24:1, d18:1/22:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800539 behenoylcarnitine (C22) measurement 'behenoylcarnitine (C22) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800538 linolenoylcarnitine (C18:3) measurement 'linolenoylcarnitine (C18:3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800537 heneicosapentaenoate (21:5n3) measurement 'heneicosapentaenoate (21:5n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800536 nisinate (24:6n3) measurement 'nisinate (24:6n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800535 linoleoylcholine measurement 'linoleoylcholine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800743 X-13835 measurement 'X-13835 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800742 X-13729 measurement 'X-13729 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800741 X-13728 measurement 'X-13728 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800740 X-13726 measurement 'X-13726 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800749 X-15461 measurement 'X-15461 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800748 X-15245 measurement 'X-15245 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800747 X-14939 measurement 'X-14939 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800746 X-14082 measurement 'X-14082 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800745 X-13866 measurement 'X-13866 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800744 X-13844 measurement 'X-13844 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800754 X-15666 measurement 'X-15666 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800753 X-15503 measurement 'X-15503 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800752 X-15492 measurement 'X-15492 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800751 X-15486 measurement 'X-15486 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800750 X-15469 measurement 'X-15469 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800759 X-16570 measurement 'X-16570 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800758 X-16397 measurement 'X-16397 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800757 X-16124 measurement 'X-16124 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800756 X-16087 measurement 'X-16087 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800755 X-15674 measurement 'X-15674 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800721 X-12713 measurement 'X-12713 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800720 X-12707 measurement 'X-12707 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800729 X-12818 measurement 'X-12818 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800728 X-12812 measurement 'X-12812 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800727 X-12753 measurement 'X-12753 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800726 X-12738 measurement 'X-12738 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800725 X-12731 measurement 'X-12731 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800724 X-12730 measurement 'X-12730 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800723 X-12718 measurement 'X-12718 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800722 X-12714 measurement 'X-12714 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800732 X-12849 measurement 'X-12849 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800731 X-12839 measurement 'X-12839 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800730 X-12822 measurement 'X-12822 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800739 X-13723 measurement 'X-13723 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800738 X-13695 measurement 'X-13695 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800737 X-13684 measurement 'X-13684 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800736 X-13507 measurement 'X-13507 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800735 X-13431 measurement 'X-13431 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800734 X-13007 measurement 'X-13007 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800733 X-12906 measurement 'X-12906 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800707 X-12125 measurement 'X-12125 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800706 X-12117 measurement 'X-12117 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800705 X-12112 measurement 'X-12112 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800704 X-12111 measurement 'X-12111 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800703 X-12104 measurement 'X-12104 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800702 X-12101 measurement 'X-12101 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800701 X-12100 measurement 'X-12100 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800700 X-12026 measurement 'X-12026 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800709 X-12127 measurement 'X-12127 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800708 X-12126 measurement 'X-12126 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800710 X-12193 measurement 'X-12193 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800718 X-12543 measurement 'X-12543 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800717 X-12462 measurement 'X-12462 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800716 X-12411 measurement 'X-12411 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800715 X-12410 measurement 'X-12410 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800714 X-12306 measurement 'X-12306 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800713 X-12283 measurement 'X-12283 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800712 X-12262 measurement 'X-12262 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800711 X-12221 measurement 'X-12221 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800719 X-12689 measurement 'X-12689 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800688 4-hydroxyphenylacetylglutamine measurement '4-hydroxyphenylacetylglutamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800687 phenylacetylglutamate measurement 'phenylacetylglutamate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800686 phenylacetylcarnitine measurement 'phenylacetylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800685 prolylserine measurement 'prolylserine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800684 prolylproline measurement 'prolylproline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800683 prolylglycine measurement 'prolylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800682 methionylalanine measurement 'methionylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800681 valylphenylalanine measurement 'valylphenylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800689 gamma-glutamyl-alpha-lysine measurement 'gamma-glutamyl-alpha-lysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800691 gamma-glutamylhistidine measurement 'gamma-glutamylhistidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800690 gamma-glutamylcitrulline measurement 'gamma-glutamylcitrulline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800699 X-12015 measurement 'X-12015 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800698 X-11880 measurement 'X-11880 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800697 X-11632 measurement 'X-11632 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800696 X-11522 measurement 'X-11522 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800695 X-11378 measurement 'X-11378 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800694 X-11372 measurement 'X-11372 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800693 X-11308 measurement 'X-11308 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800692 X-10458 measurement 'X-10458 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800666 pyroglutamylvaline measurement 'pyroglutamylvaline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800665 bradykinin measurement 'bradykinin measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800664 pyroglutamylglutamine measurement 'pyroglutamylglutamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800663 GlcNAc sulfate conjugate of C21H34O2 steroid measurement 'GlcNAc sulfate conjugate of C21H34O2 steroid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800662 branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid measurement 'branched-chain, straight-chain, or cyclopropyl 12:1 fatty acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800661 branched-chain, straight-chain, or cyclopropyl 10:1 fatty acid (1) measurement 'branched-chain, straight-chain, or cyclopropyl 10:1 fatty acid (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800660 pentose acid measurement 'pentose acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800669 HWESASLLR measurement 'HWESASLLR measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800668 glycylphenylalanine measurement 'glycylphenylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800667 gamma-glutamyl-epsilon-lysine measurement 'gamma-glutamyl-epsilon-lysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800677 isoleucylglycine measurement 'isoleucylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800676 cyclo(leu-pro) measurement 'cyclo(leu-pro) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800675 gamma-glutamylalanine measurement 'gamma-glutamylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800674 gamma-glutamyl-2-aminobutyrate measurement 'gamma-glutamyl-2-aminobutyrate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800673 fibrinopeptide A, des-ala(1) measurement 'fibrinopeptide A, des-ala(1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800672 fibrinopeptide A measurement 'fibrinopeptide A measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800671 gamma-glutamyltryptophan measurement 'gamma-glutamyltryptophan measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800670 gamma-glutamylglycine measurement 'gamma-glutamylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800679 phenylalanyltryptophan measurement 'phenylalanyltryptophan measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800678 leucylglycine measurement 'leucylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800680 valylglycine measurement 'valylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800644 uracil measurement 'uracil measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0003656 hemoglobinuria 'hemoglobinuria' SubClassOf 'kidney disease' http://www.ebi.ac.uk/efo/EFO_0800643 2'-deoxyuridine measurement '2'-deoxyuridine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800642 orotate measurement 'orotate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800641 inosine 5'-monophosphate (IMP) measurement 'inosine 5'-monophosphate (IMP) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800640 beta-alanine measurement 'beta-alanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800649 glucuronide of C19H28O4 (2) measurement 'glucuronide of C19H28O4 (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800648 glucuronide of C19H28O4 (1) measurement 'glucuronide of C19H28O4 (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800647 dihydroorotate measurement 'dihydroorotate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800646 thymine measurement 'thymine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800645 cytidine measurement 'cytidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800655 glycine conjugate of C10H14O2 (1) measurement 'glycine conjugate of C10H14O2 (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800654 glycine conjugate of C10H12O2 measurement 'glycine conjugate of C10H12O2 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800653 glucuronide of C10H18O2 (8) measurement 'glucuronide of C10H18O2 (8) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800652 glucuronide of C10H18O2 (7) measurement 'glucuronide of C10H18O2 (7) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800651 glucuronide of C10H18O2 (4) measurement 'glucuronide of C10H18O2 (4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800650 glucuronide of C10H18O2 (1) measurement 'glucuronide of C10H18O2 (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800659 metabolonic lactone sulfate measurement 'metabolonic lactone sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800658 glutamine conjugate of C6H10O2 (2) measurement 'glutamine conjugate of C6H10O2 (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800657 glutamine conjugate of C6H10O2 (1) measurement 'glutamine conjugate of C6H10O2 (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800656 glutamine conjugate of C7H12O2 measurement 'glutamine conjugate of C7H12O2 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800864 X-23780 measurement 'X-23780 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800863 X-23739 measurement 'X-23739 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800862 X-23680 measurement 'X-23680 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800861 X-23678 measurement 'X-23678 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800860 X-23666 measurement 'X-23666 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800869 X-24295 measurement 'X-24295 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800868 X-23997 measurement 'X-23997 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800867 X-23974 measurement 'X-23974 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800866 X-23787 measurement 'X-23787 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800865 X-23782 measurement 'X-23782 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800875 X-24337 measurement 'X-24337 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800874 X-24334 measurement 'X-24334 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800873 X-24328 measurement 'X-24328 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800872 X-24309 measurement 'X-24309 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800871 X-24307 measurement 'X-24307 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800870 X-24306 measurement 'X-24306 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800879 X-24418 measurement 'X-24418 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800878 X-24411 measurement 'X-24411 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800877 X-24352 measurement 'X-24352 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800876 X-24344 measurement 'X-24344 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800842 X-22519 measurement 'X-22519 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800841 X-22509 measurement 'X-22509 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800840 X-22508 measurement 'X-22508 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800849 X-23587 measurement 'X-23587 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800848 X-23583 measurement 'X-23583 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800847 X-23276 measurement 'X-23276 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800846 X-23157 measurement 'X-23157 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800845 X-22776 measurement 'X-22776 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800844 X-22771 measurement 'X-22771 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800843 X-22520 measurement 'X-22520 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800853 X-23639 measurement 'X-23639 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800852 X-23636 measurement 'X-23636 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800851 X-23593 measurement 'X-23593 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800850 X-23590 measurement 'X-23590 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800859 X-23665 measurement 'X-23665 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800858 X-23662 measurement 'X-23662 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800857 X-23657 measurement 'X-23657 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800856 X-23655 measurement 'X-23655 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800855 X-23644 measurement 'X-23644 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800854 X-23641 measurement 'X-23641 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800820 X-21733 measurement 'X-21733 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800828 X-21815 measurement 'X-21815 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800827 X-21807 measurement 'X-21807 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800826 X-21803 measurement 'X-21803 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800825 X-21796 measurement 'X-21796 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800824 X-21752 measurement 'X-21752 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800823 X-21742 measurement 'X-21742 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800822 X-21740 measurement 'X-21740 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800821 X-21736 measurement 'X-21736 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800829 X-21821 measurement 'X-21821 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800831 X-21830 measurement 'X-21830 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800830 X-21829 measurement 'X-21829 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800839 X-22162 measurement 'X-22162 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800838 X-22143 measurement 'X-22143 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800837 X-21959 measurement 'X-21959 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800836 X-21845 measurement 'X-21845 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800835 X-21842 measurement 'X-21842 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800834 X-21839 measurement 'X-21839 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800833 X-21834 measurement 'X-21834 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800832 X-21831 measurement 'X-21831 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800806 X-21312 measurement 'X-21312 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800805 X-21310 measurement 'X-21310 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800804 X-21286 measurement 'X-21286 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800803 X-21285 measurement 'X-21285 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800802 X-21258 measurement 'X-21258 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800801 X-19438 measurement 'X-19438 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800800 X-19183 measurement 'X-19183 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800809 X-21353 measurement 'X-21353 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800808 X-21339 measurement 'X-21339 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800807 X-21319 measurement 'X-21319 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800817 X-21470 measurement 'X-21470 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800816 X-21448 measurement 'X-21448 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800815 X-21442 measurement 'X-21442 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800814 X-21441 measurement 'X-21441 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800813 X-21410 measurement 'X-21410 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800812 X-21383 measurement 'X-21383 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800811 X-21364 measurement 'X-21364 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800810 X-21355 measurement 'X-21355 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800819 X-21607 measurement 'X-21607 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800818 X-21471 measurement 'X-21471 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800787 X-17686 measurement 'X-17686 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800786 X-17685 measurement 'X-17685 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800785 X-17676 measurement 'X-17676 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800784 X-17654 measurement 'X-17654 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800783 X-17653 measurement 'X-17653 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800782 X-17612 measurement 'X-17612 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800781 X-17438 measurement 'X-17438 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800780 X-17371 measurement 'X-17371 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800789 X-18345 measurement 'X-18345 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800788 X-17690 measurement 'X-17690 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800790 X-18886 measurement 'X-18886 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800798 X-18935 measurement 'X-18935 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800797 X-18922 measurement 'X-18922 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800796 X-18921 measurement 'X-18921 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800795 X-18913 measurement 'X-18913 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800794 X-18901 measurement 'X-18901 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800793 X-18899 measurement 'X-18899 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800792 X-18888 measurement 'X-18888 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800791 X-18887 measurement 'X-18887 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800799 X-19141 measurement 'X-19141 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800765 X-16944 measurement 'X-16944 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800764 X-16938 measurement 'X-16938 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800763 X-16935 measurement 'X-16935 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800762 X-16649 measurement 'X-16649 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800761 X-16580 measurement 'X-16580 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800760 X-16576 measurement 'X-16576 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800769 X-17162 measurement 'X-17162 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800768 X-17137 measurement 'X-17137 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800767 X-17010 measurement 'X-17010 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800766 X-16946 measurement 'X-16946 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800776 X-17354 measurement 'X-17354 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800775 X-17353 measurement 'X-17353 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800774 X-17351 measurement 'X-17351 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800773 X-17340 measurement 'X-17340 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800772 X-17335 measurement 'X-17335 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800771 X-17325 measurement 'X-17325 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800770 X-17185 measurement 'X-17185 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800779 X-17367 measurement 'X-17367 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800778 X-17361 measurement 'X-17361 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800777 X-17357 measurement 'X-17357 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800985 S-allylcysteine measurement 'S-allylcysteine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800984 3-hydroxycotinine glucuronide measurement '3-hydroxycotinine glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800983 3-acetylphenol sulfate measurement '3-acetylphenol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800982 2-aminophenol sulfate measurement '2-aminophenol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800981 indolin-2-one measurement 'indolin-2-one measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800980 2-piperidinone measurement '2-piperidinone measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800989 ferulic acid 4-sulfate measurement 'ferulic acid 4-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800988 N-methylpipecolate measurement 'N-methylpipecolate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800987 N-acetylalliin measurement 'N-acetylalliin measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0030938 spermatogenic failure 52 'spermatogenic failure 52' SubClassOf 'azoospermia' http://www.ebi.ac.uk/efo/EFO_0800986 benzoylcarnitine measurement 'benzoylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800996 4-methylguaiacol sulfate measurement '4-methylguaiacol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800995 3-hydroxypyridine sulfate measurement '3-hydroxypyridine sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800994 3-hydroxycinnamate sulfate measurement '3-hydroxycinnamate sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800993 isoeugenol sulfate measurement 'isoeugenol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800992 4-hydroxychlorothalonil measurement '4-hydroxychlorothalonil measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800991 methyl glucopyranoside (alpha + beta) measurement 'methyl glucopyranoside (alpha + beta) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800990 3-(3-hydroxyphenyl)propionate sulfate measurement '3-(3-hydroxyphenyl)propionate sulfate measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0030926 spermatogenic failure 51 'spermatogenic failure 51' SubClassOf 'azoospermia' http://www.ebi.ac.uk/efo/EFO_0800999 eugenol sulfate measurement 'eugenol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800998 4-vinylguaiacol sulfate measurement '4-vinylguaiacol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800997 methyl-4-hydroxybenzoate sulfate measurement 'methyl-4-hydroxybenzoate sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800963 2,3-dihydroxyisovalerate measurement '2,3-dihydroxyisovalerate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800962 cinnamoylglycine measurement 'cinnamoylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800961 7-methylurate measurement '7-methylurate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800960 3-hydroxyhippurate measurement '3-hydroxyhippurate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800969 dihydroferulate measurement 'dihydroferulate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800968 2-oxindole-3-acetate measurement '2-oxindole-3-acetate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800967 ethyl glucuronide measurement 'ethyl glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800966 solanidine measurement 'solanidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800965 cotinine N-oxide measurement 'cotinine N-oxide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800964 hydroxycotinine measurement 'hydroxycotinine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800974 4-methylcatechol sulfate measurement '4-methylcatechol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800973 3-methyl catechol sulfate (2) measurement '3-methyl catechol sulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800972 histidine betaine (hercynine) measurement 'histidine betaine (hercynine) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800971 mannonate measurement 'mannonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800970 alliin measurement 'alliin measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800979 dimethyl sulfone measurement 'dimethyl sulfone measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800978 guaiacol sulfate measurement 'guaiacol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800977 carboxyibuprofen measurement 'carboxyibuprofen measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800976 2-hydroxyibuprofen measurement '2-hydroxyibuprofen measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800975 3-methyl catechol sulfate (1) measurement '3-methyl catechol sulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800941 tartarate measurement 'tartarate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800940 4-acetamidophenylglucuronide measurement '4-acetamidophenylglucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800949 3,7-dimethylurate measurement '3,7-dimethylurate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800948 1,3-dimethylurate measurement '1,3-dimethylurate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800947 N-(2-furoyl)glycine measurement 'N-(2-furoyl)glycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800946 EDTA measurement 'EDTA measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800945 iminodiacetate (IDA) measurement 'iminodiacetate (IDA) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800944 tartronate (hydroxymalonate) measurement 'tartronate (hydroxymalonate) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800943 theanine measurement 'theanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800942 4-acetylphenol sulfate measurement '4-acetylphenol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800952 3-(3-hydroxyphenyl)propionate measurement '3-(3-hydroxyphenyl)propionate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800951 5-acetylamino-6-amino-3-methyluracil measurement '5-acetylamino-6-amino-3-methyluracil measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800950 5-acetylamino-6-formylamino-3-methyluracil measurement '5-acetylamino-6-formylamino-3-methyluracil measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800959 4-hydroxycoumarin measurement '4-hydroxycoumarin measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800958 4-allylphenol sulfate measurement '4-allylphenol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800957 2-ethylphenylsulfate measurement '2-ethylphenylsulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800956 3-ethylphenylsulfate measurement '3-ethylphenylsulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800955 O-cresol sulfate measurement 'O-cresol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800954 pyrraline measurement 'pyrraline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800953 ectoine measurement 'ectoine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800927 X-25422 measurement 'X-25422 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800926 X-25420 measurement 'X-25420 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800925 X-25419 measurement 'X-25419 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800924 X-25417 measurement 'X-25417 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800923 X-25371 measurement 'X-25371 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800922 X-25343 measurement 'X-25343 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800921 X-25279 measurement 'X-25279 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800920 X-25271 measurement 'X-25271 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800929 X-25503 measurement 'X-25503 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800928 X-25433 measurement 'X-25433 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800930 X-25519 measurement 'X-25519 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800938 X-25957 measurement 'X-25957 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800937 X-25937 measurement 'X-25937 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800936 X-25828 measurement 'X-25828 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800935 X-25802 measurement 'X-25802 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800934 X-25793 measurement 'X-25793 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800933 X-25790 measurement 'X-25790 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800932 X-25617 measurement 'X-25617 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800931 X-25520 measurement 'X-25520 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800939 X-26054 measurement 'X-26054 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800905 X-24757 measurement 'X-24757 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800904 X-24736 measurement 'X-24736 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800903 X-24728 measurement 'X-24728 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800902 X-24699 measurement 'X-24699 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800901 X-24669 measurement 'X-24669 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800900 X-24657 measurement 'X-24657 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800909 X-24849 measurement 'X-24849 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800908 X-24812 measurement 'X-24812 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800907 X-24811 measurement 'X-24811 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800906 X-24762 measurement 'X-24762 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800916 X-25172 measurement 'X-25172 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800915 X-24980 measurement 'X-24980 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800914 X-24972 measurement 'X-24972 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800913 X-24970 measurement 'X-24970 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800912 X-24951 measurement 'X-24951 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800911 X-24949 measurement 'X-24949 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800910 X-24947 measurement 'X-24947 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800919 X-25267 measurement 'X-25267 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800918 X-25266 measurement 'X-25266 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800917 X-25265 measurement 'X-25265 measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0042981 aortic valve stenosis 'aortic valve stenosis' SubClassOf 'aortic malformation' 'aortic valve stenosis' SubClassOf 'aortic valve disease' 'aortic valve stenosis' SubClassOf 'ascending aorta anomaly' http://www.ebi.ac.uk/efo/EFO_0800886 X-24462 measurement 'X-24462 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800885 X-24456 measurement 'X-24456 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800884 X-24455 measurement 'X-24455 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800883 X-24432 measurement 'X-24432 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800882 X-24431 measurement 'X-24431 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800881 X-24425 measurement 'X-24425 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800880 X-24422 measurement 'X-24422 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800889 X-24494 measurement 'X-24494 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800888 X-24475 measurement 'X-24475 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800887 X-24473 measurement 'X-24473 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800897 X-24574 measurement 'X-24574 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800896 X-24571 measurement 'X-24571 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800895 X-24556 measurement 'X-24556 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800894 X-24549 measurement 'X-24549 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800893 X-24546 measurement 'X-24546 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800892 X-24544 measurement 'X-24544 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800891 X-24541 measurement 'X-24541 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800890 X-24518 measurement 'X-24518 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800899 X-24637 measurement 'X-24637 measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800898 X-24588 measurement 'X-24588 measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0030844 spermatogenic failure 47 'spermatogenic failure 47' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030847 arthrogryposis, distal, type 1C 'arthrogryposis, distal, type 1C' SubClassOf 'distal arthrogryposis' http://purl.obolibrary.org/obo/MONDO_0030846 spermatogenic failure 48 'spermatogenic failure 48' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030869 spermatogenic failures 50 'spermatogenic failures 50' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030868 spermatogenic failure 49 'spermatogenic failure 49' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0030861 osteogenesis imperfecta, type 21 'osteogenesis imperfecta, type 21' SubClassOf 'osteogenesis imperfecta' http://purl.obolibrary.org/obo/MONDO_0054843 ciliary dyskinesia, primary, 38 'ciliary dyskinesia, primary, 38' SubClassOf 'primary ciliary dyskinesia' http://www.ebi.ac.uk/efo/EFO_0800189 1,2-dipalmitoyl-GPC (16:0/16:0) measurement '1,2-dipalmitoyl-GPC (16:0/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800188 1-stearoyl-GPI (18:0) measurement '1-stearoyl-GPI (18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800187 1-stearoyl-2-oleoyl-GPS (18:0/18:1) measurement '1-stearoyl-2-oleoyl-GPS (18:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800186 1-oleoyl-GPS (18:1) measurement '1-oleoyl-GPS (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800196 2-oleoylglycerol (18:1) measurement '2-oleoylglycerol (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800195 1-oleoylglycerol (18:1) measurement '1-oleoylglycerol (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800194 1-palmitoylglycerol (16:0) measurement '1-palmitoylglycerol (16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800193 3-hydroxyoctanoate measurement '3-hydroxyoctanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800192 2-hydroxyoctanoate measurement '2-hydroxyoctanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800191 1-myristoyl-2-palmitoyl-GPC (14:0/16:0) measurement '1-myristoyl-2-palmitoyl-GPC (14:0/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800190 1,2-distearoyl-GPC (18:0/18:0) measurement '1,2-distearoyl-GPC (18:0/18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800199 1-linoleoylglycerol (18:2) measurement '1-linoleoylglycerol (18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800198 3-hydroxydecanoate measurement '3-hydroxydecanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800197 2-linoleoylglycerol (18:2) measurement '2-linoleoylglycerol (18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800169 ascorbic acid 2-sulfate measurement 'ascorbic acid 2-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800168 beta-tocopherol measurement 'beta-tocopherol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800167 alpha-CMBHC glucuronide measurement 'alpha-CMBHC glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800166 alpha-CEHC sulfate measurement 'alpha-CEHC sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800165 gamma-CEHC glucuronide measurement 'gamma-CEHC glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800164 2-O-methylascorbic acid measurement '2-O-methylascorbic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800174 delta-CEHC measurement 'delta-CEHC measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800173 ascorbic acid 3-sulfate measurement 'ascorbic acid 3-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800172 carotene diol (3) measurement 'carotene diol (3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800171 carotene diol (2) measurement 'carotene diol (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800170 carotene diol (1) measurement 'carotene diol (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800179 homocitrate measurement 'homocitrate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800178 nicotinamide measurement 'nicotinamide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800177 flavin adenine dinucleotide (FAD) measurement 'flavin adenine dinucleotide (FAD) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800176 adenosine 5'-diphosphoribose (ADP-ribose) measurement 'adenosine 5'-diphosphoribose (ADP-ribose) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800175 quinolinate measurement 'quinolinate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800185 sphingosine 1-phosphate measurement 'sphingosine 1-phosphate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800184 1-stearoyl-2-arachidonoyl-GPI (18:0/20:4) measurement '1-stearoyl-2-arachidonoyl-GPI (18:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800183 1-palmityl-GPC (O-16:0) measurement '1-palmityl-GPC (O-16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800182 2-arachidonoylglycerol (20:4) measurement '2-arachidonoylglycerol (20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800181 suberate (C8-DC) measurement 'suberate (C8-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800180 isocitric lactone measurement 'isocitric lactone measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800149 N-acetylgalactosamine measurement 'N-acetylgalactosamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800148 arabitol measurement 'arabitol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800147 xylonate measurement 'xylonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800146 N6-carboxymethyllysine measurement 'N6-carboxymethyllysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800145 galactonate measurement 'galactonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800144 ribonate measurement 'ribonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800143 ribitol measurement 'ribitol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800142 maltotriose measurement 'maltotriose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800152 3-phosphoglycerate measurement '3-phosphoglycerate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800151 N-acetylglucosaminylasparagine measurement 'N-acetylglucosaminylasparagine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800150 lyxonate measurement 'lyxonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800159 gulonate measurement 'gulonate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800158 heme measurement 'heme measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800157 nicotinate ribonucleoside measurement 'nicotinate ribonucleoside measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800156 nicotinamide riboside measurement 'nicotinamide riboside measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800155 I-urobilinogen measurement 'I-urobilinogen measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800154 trigonelline (N'-methylnicotinate) measurement 'trigonelline (N'-methylnicotinate) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800153 xylose measurement 'xylose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800163 alpha-CEHC glucuronide measurement 'alpha-CEHC glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800162 astaxanthin measurement 'astaxanthin measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800161 L-urobilin measurement 'L-urobilin measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800160 gamma-CEHC measurement 'gamma-CEHC measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800127 N-acetylputrescine measurement 'N-acetylputrescine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800126 N6,N6,N6-trimethyllysine measurement 'N6,N6,N6-trimethyllysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800125 beta-hydroxyisovalerate measurement 'beta-hydroxyisovalerate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800124 4-hydroxyphenylacetate measurement '4-hydroxyphenylacetate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800123 anthranilate measurement 'anthranilate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800122 cys-gly, oxidized measurement 'cys-gly, oxidized measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800121 tigloylglycine measurement 'tigloylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800120 4-hydroxyphenylpyruvate measurement '4-hydroxyphenylpyruvate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800129 methylsuccinate measurement 'methylsuccinate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800128 N-formylmethionine measurement 'N-formylmethionine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800130 5-methylthioadenosine (MTA) measurement '5-methylthioadenosine (MTA) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800138 trans-urocanate measurement 'trans-urocanate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800137 2-aminoadipate measurement '2-aminoadipate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800136 S-1-pyrroline-5-carboxylate measurement 'S-1-pyrroline-5-carboxylate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800135 guanidinoacetate measurement 'guanidinoacetate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800134 cystine measurement 'cystine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800133 cysteinylglycine measurement 'cysteinylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800132 phenylpyruvate measurement 'phenylpyruvate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800131 2-hydroxyphenylacetate measurement '2-hydroxyphenylacetate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800139 5-hydroxyindoleacetate measurement '5-hydroxyindoleacetate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800141 kynurenate measurement 'kynurenate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800140 alpha-ketobutyrate measurement 'alpha-ketobutyrate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800105 1-carboxyethylisoleucine measurement '1-carboxyethylisoleucine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800104 1-carboxyethylleucine measurement '1-carboxyethylleucine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800103 1-carboxyethylvaline measurement '1-carboxyethylvaline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800102 1-carboxyethyltyrosine measurement '1-carboxyethyltyrosine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800101 1-carboxyethylphenylalanine measurement '1-carboxyethylphenylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800100 N6,N6-dimethyllysine measurement 'N6,N6-dimethyllysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800109 N2-acetyl,N6-methyllysine measurement 'N2-acetyl,N6-methyllysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800108 5-hydroxyindole glucuronide measurement '5-hydroxyindole glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800107 N-acetyl-isoputreanine measurement 'N-acetyl-isoputreanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800106 indoleacetoylcarnitine measurement 'indoleacetoylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800116 N-acetylleucine measurement 'N-acetylleucine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800115 picolinate measurement 'picolinate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800114 trans-4-hydroxyproline measurement 'trans-4-hydroxyproline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800113 2-hydroxy-4-(methylthio)butanoic acid measurement '2-hydroxy-4-(methylthio)butanoic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800112 hydroxy-N6,N6,N6-trimethyllysine measurement 'hydroxy-N6,N6,N6-trimethyllysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800111 2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) measurement '2,3-dihydroxy-5-methylthio-4-pentenoate (DMTPA) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800110 2-ketocaprylate measurement '2-ketocaprylate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800119 vanillylmandelate (VMA) measurement 'vanillylmandelate (VMA) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800118 N-acetylalanine measurement 'N-acetylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800117 N-acetylvaline measurement 'N-acetylvaline measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0054728 spermatogenic failure 24 'spermatogenic failure 24' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054727 spermatogenic failure 23 'spermatogenic failure 23' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054726 spermatogenic failure 22 'spermatogenic failure 22' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054729 spermatogenic failure 25 'spermatogenic failure 25' SubClassOf 'azoospermia' http://purl.obolibrary.org/obo/MONDO_0054730 spermatogenic failure 26 'spermatogenic failure 26' SubClassOf 'azoospermia' http://www.ebi.ac.uk/efo/EFO_0800289 5alpha-androstan-3beta,17alpha-diol disulfate measurement '5alpha-androstan-3beta,17alpha-diol disulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800288 5alpha-androstan-3alpha,17beta-diol monosulfate (1) measurement '5alpha-androstan-3alpha,17beta-diol monosulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800287 5alpha-androstan-3alpha,17beta-diol disulfate measurement '5alpha-androstan-3alpha,17beta-diol disulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800286 5alpha-pregnan-diol disulfate measurement '5alpha-pregnan-diol disulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800285 5alpha-pregnan-3beta,20alpha-diol monosulfate (2) measurement '5alpha-pregnan-3beta,20alpha-diol monosulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800295 androstenediol (3beta,17beta) monosulfate (2) measurement 'androstenediol (3beta,17beta) monosulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800294 androstenediol (3beta,17beta) monosulfate (1) measurement 'androstenediol (3beta,17beta) monosulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800293 androstenediol (3alpha, 17alpha) monosulfate (3) measurement 'androstenediol (3alpha, 17alpha) monosulfate (3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800292 androstenediol (3alpha, 17alpha) monosulfate (2) measurement 'androstenediol (3alpha, 17alpha) monosulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800291 5alpha-androstan-3beta,17beta-diol monosulfate (2) measurement '5alpha-androstan-3beta,17beta-diol monosulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800290 5alpha-androstan-3beta,17beta-diol monosulfate (1) measurement '5alpha-androstan-3beta,17beta-diol monosulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800299 pregnenediol sulfate (C21H34O5S) measurement 'pregnenediol sulfate (C21H34O5S) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800298 1-docosapentaenoyl-GPC (22:5n3) measurement '1-docosapentaenoyl-GPC (22:5n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800297 2-docosahexaenoyl-GPE (22:6) measurement '2-docosahexaenoyl-GPE (22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800296 1-docosahexaenoyl-GPE (22:6) measurement '1-docosahexaenoyl-GPE (22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800269 1-stearoyl-2-oleoyl-GPE (18:0/18:1) measurement '1-stearoyl-2-oleoyl-GPE (18:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800268 1-palmitoleoyl-GPI (16:1) measurement '1-palmitoleoyl-GPI (16:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800267 1-palmitoleoyl-GPE (16:1) measurement '1-palmitoleoyl-GPE (16:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800266 1-linoleoyl-GPI (18:2) measurement '1-linoleoyl-GPI (18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800265 1-oleoyl-GPI (18:1) measurement '1-oleoyl-GPI (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800264 2-linoleoyl-GPE (18:2) measurement '2-linoleoyl-GPE (18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800263 3-methyladipate measurement '3-methyladipate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800273 1-stearoyl-2-arachidonoyl-GPS (18:0/20:4) measurement '1-stearoyl-2-arachidonoyl-GPS (18:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800272 1-palmitoyl-2-linoleoyl-GPE (16:0/18:2) measurement '1-palmitoyl-2-linoleoyl-GPE (16:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800271 1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) measurement '1-stearoyl-2-arachidonoyl-GPC (18:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800270 chiro-inositol measurement 'chiro-inositol measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800279 pregnenediol disulfate (C21H34O8S2) measurement 'pregnenediol disulfate (C21H34O8S2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800278 androstenediol (3beta,17beta) disulfate (1) measurement 'androstenediol (3beta,17beta) disulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800277 taurocholenate sulfate measurement 'taurocholenate sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800276 glycocholenate sulfate measurement 'glycocholenate sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800275 glycosyl-N-stearoyl-sphingosine (d18:1/18:0) measurement 'glycosyl-N-stearoyl-sphingosine (d18:1/18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800274 sphinganine-1-phosphate measurement 'sphinganine-1-phosphate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800284 5alpha-pregnan-3beta,20beta-diol monosulfate (1) measurement '5alpha-pregnan-3beta,20beta-diol monosulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800283 5alpha-androstan-3alpha,17alpha-diol monosulfate measurement '5alpha-androstan-3alpha,17alpha-diol monosulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800282 21-hydroxypregnenolone monosulfate (1) measurement '21-hydroxypregnenolone monosulfate (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800281 21-hydroxypregnenolone disulfate measurement '21-hydroxypregnenolone disulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800280 androstenediol (3beta,17beta) disulfate (2) measurement 'androstenediol (3beta,17beta) disulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800248 1-arachidonoyl-GPE (20:4n6) measurement '1-arachidonoyl-GPE (20:4n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800247 1-linoleoyl-GPE (18:2) measurement '1-linoleoyl-GPE (18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800246 1-oleoyl-GPE (18:1) measurement '1-oleoyl-GPE (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800245 1-palmitoyl-GPE (16:0) measurement '1-palmitoyl-GPE (16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800244 1-docosahexaenoyl-GPC (22:6) measurement '1-docosahexaenoyl-GPC (22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800243 2-docosahexaenoyl-GPC (22:6) measurement '2-docosahexaenoyl-GPC (22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800242 2-myristoyl-GPC (14:0) measurement '2-myristoyl-GPC (14:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800241 2-palmitoyl-GPC (16:0) measurement '2-palmitoyl-GPC (16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800249 docosapentaenoate (n6 DPA; 22:5n6) measurement 'docosapentaenoate (n6 DPA; 22:5n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800251 3beta,7alpha-dihydroxy-5-cholestenoate measurement '3beta,7alpha-dihydroxy-5-cholestenoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800250 2-methylmalonylcarnitine (C4-DC) measurement '2-methylmalonylcarnitine (C4-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800259 deoxycarnitine measurement 'deoxycarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800258 glycolithocholate sulfate measurement 'glycolithocholate sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800257 1-palmitoyl-GPI (16:0) measurement '1-palmitoyl-GPI (16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800256 1-arachidonoyl-GPI (20:4) measurement '1-arachidonoyl-GPI (20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800255 2-palmitoyl-GPE (16:0) measurement '2-palmitoyl-GPE (16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800254 2-oleoyl-GPE (18:1) measurement '2-oleoyl-GPE (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800253 glycerophosphoethanolamine measurement 'glycerophosphoethanolamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800252 1-myristoylglycerol (14:0) measurement '1-myristoylglycerol (14:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800262 hexanoylglutamine measurement 'hexanoylglutamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800261 alpha-hydroxycaproate measurement 'alpha-hydroxycaproate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800260 2-arachidonoyl-GPE (20:4) measurement '2-arachidonoyl-GPE (20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800226 3-hydroxydodecanedioate measurement '3-hydroxydodecanedioate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800225 1-linolenoylglycerol (18:3) measurement '1-linolenoylglycerol (18:3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800224 1-arachidonylglycerol (20:4) measurement '1-arachidonylglycerol (20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800223 1-linoleoyl-GPC (18:2) measurement '1-linoleoyl-GPC (18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800222 1-arachidoyl-GPC (20:0) measurement '1-arachidoyl-GPC (20:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800221 1-myristoyl-GPC (14:0) measurement '1-myristoyl-GPC (14:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800220 eicosenoate (20:1) measurement 'eicosenoate (20:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800229 1-docosahexaenoylglycerol (22:6) measurement '1-docosahexaenoylglycerol (22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800228 1-stearoyl-GPG (18:0) measurement '1-stearoyl-GPG (18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800227 1-stearoyl-GPE (18:0) measurement '1-stearoyl-GPE (18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800237 2-arachidonoyl-GPC (20:4) measurement '2-arachidonoyl-GPC (20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800236 1-dihomo-linoleoyl-GPC (20:2) measurement '1-dihomo-linoleoyl-GPC (20:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800235 1-dihomo-linolenoyl-GPC (20:3n3 or 6) measurement '1-dihomo-linolenoyl-GPC (20:3n3 or 6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800234 1-arachidonoyl-GPC (20:4n6) measurement '1-arachidonoyl-GPC (20:4n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800233 hexanoylglycine measurement 'hexanoylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800232 malonylcarnitine measurement 'malonylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800231 1-palmitoleoyl-GPC (16:1) measurement '1-palmitoleoyl-GPC (16:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800230 1-dihomo-linoleoylglycerol (20:2) measurement '1-dihomo-linoleoylglycerol (20:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800239 2-linoleoyl-GPC (18:2) measurement '2-linoleoyl-GPC (18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800238 2-oleoyl-GPC (18:1) measurement '2-oleoyl-GPC (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800240 2-palmitoleoyl-GPC (16:1) measurement '2-palmitoleoyl-GPC (16:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800204 3-hydroxylaurate measurement '3-hydroxylaurate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800203 glycolithocholate measurement 'glycolithocholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800202 7-ketodeoxycholate measurement '7-ketodeoxycholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800201 butyrylcarnitine (C4) measurement 'butyrylcarnitine (C4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800200 2-palmitoylglycerol (16:0) measurement '2-palmitoylglycerol (16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800209 2-hydroxyadipate measurement '2-hydroxyadipate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800208 butyrylglycine measurement 'butyrylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800207 propionylglycine measurement 'propionylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800206 5-hydroxyhexanoate measurement '5-hydroxyhexanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800205 3-hydroxysebacate measurement '3-hydroxysebacate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800215 1-margaroyl-GPC (17:0) measurement '1-margaroyl-GPC (17:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800214 1-palmitoyl-GPC (16:0) measurement '1-palmitoyl-GPC (16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800213 tauro-beta-muricholate measurement 'tauro-beta-muricholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800212 sebacate (C10-DC) measurement 'sebacate (C10-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800211 docosadienoate (22:2n6) measurement 'docosadienoate (22:2n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800210 propionylcarnitine (C3) measurement 'propionylcarnitine (C3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800219 hyocholate measurement 'hyocholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800218 1-oleoyl-GPC (18:1) measurement '1-oleoyl-GPC (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800217 1-stearoyl-GPC (18:0) measurement '1-stearoyl-GPC (18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800216 myristoylcarnitine (C14) measurement 'myristoylcarnitine (C14) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800389 1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement '1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800388 1,2-dilinoleoyl-GPC (18:2/18:2) measurement '1,2-dilinoleoyl-GPC (18:2/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800387 linoleoyl ethanolamide measurement 'linoleoyl ethanolamide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800386 taurodeoxycholic acid 3-sulfate measurement 'taurodeoxycholic acid 3-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800385 glycodeoxycholate 3-sulfate measurement 'glycodeoxycholate 3-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800384 glycochenodeoxycholate 3-sulfate measurement 'glycochenodeoxycholate 3-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800394 1-(1-enyl-stearoyl)-2-arachidonoyl-GPC (P-18:0/20:4) measurement '1-(1-enyl-stearoyl)-2-arachidonoyl-GPC (P-18:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800393 1-(1-enyl-stearoyl)-2-oleoyl-GPC (P-18:0/18:1) measurement '1-(1-enyl-stearoyl)-2-oleoyl-GPC (P-18:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800392 1-stearoyl-2-docosahexaenoyl-GPC (18:0/22:6) measurement '1-stearoyl-2-docosahexaenoyl-GPC (18:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800391 1-palmitoyl-2-docosahexaenoyl-GPC (16:0/22:6) measurement '1-palmitoyl-2-docosahexaenoyl-GPC (16:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800390 1-palmitoyl-2-arachidonoyl-GPC (16:0/20:4n6) measurement '1-palmitoyl-2-arachidonoyl-GPC (16:0/20:4n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800399 2-palmitoleoylglycerol (16:1) measurement '2-palmitoleoylglycerol (16:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800398 1-palmitoleoylglycerol (16:1) measurement '1-palmitoleoylglycerol (16:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800397 vaccenate (18:1) measurement 'vaccenate (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800396 1-palmitoyl-2-stearoyl-GPC (16:0/18:0) measurement '1-palmitoyl-2-stearoyl-GPC (16:0/18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800395 1-(1-enyl-stearoyl)-2-oleoyl-GPE (P-18:0/18:1) measurement '1-(1-enyl-stearoyl)-2-oleoyl-GPE (P-18:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800369 9-hydroxystearate measurement '9-hydroxystearate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800368 N-linoleoyltaurine measurement 'N-linoleoyltaurine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800367 1-palmitoyl-GPG (16:0) measurement '1-palmitoyl-GPG (16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800366 1-oleoyl-GPG (18:1) measurement '1-oleoyl-GPG (18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800365 1-linolenoyl-GPE (18:3) measurement '1-linolenoyl-GPE (18:3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800364 1-docosapentaenoyl-GPC (22:5n6) measurement '1-docosapentaenoyl-GPC (22:5n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800363 17alpha-hydroxypregnanolone glucuronide measurement '17alpha-hydroxypregnanolone glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800362 etiocholanolone glucuronide measurement 'etiocholanolone glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800372 5alpha-androstan-3alpha,17beta-diol monosulfate (2) measurement '5alpha-androstan-3alpha,17beta-diol monosulfate (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800371 octadecanedioylcarnitine (C18-DC) measurement 'octadecanedioylcarnitine (C18-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800370 octadecenedioylcarnitine (C18:1-DC) measurement 'octadecenedioylcarnitine (C18:1-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800379 3beta-hydroxy-5-cholestenoate measurement '3beta-hydroxy-5-cholestenoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800378 3-hydroxyhexanoate measurement '3-hydroxyhexanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800377 lignoceroyl sphingomyelin (d18:1/24:0) measurement 'lignoceroyl sphingomyelin (d18:1/24:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800376 behenoyl sphingomyelin (d18:1/22:0) measurement 'behenoyl sphingomyelin (d18:1/22:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800375 pregnanolone sulfate measurement 'pregnanolone sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800374 1-dihomo-linolenylglycerol (20:3) measurement '1-dihomo-linolenylglycerol (20:3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800373 myristoleoylcarnitine (C14:1) measurement 'myristoleoylcarnitine (C14:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800383 deoxycholic acid 3-sulfate measurement 'deoxycholic acid 3-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800382 suberoylcarnitine (C8-DC) measurement 'suberoylcarnitine (C8-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800381 nonanoylcarnitine (C9) measurement 'nonanoylcarnitine (C9) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800380 adipoylcarnitine (C6-DC) measurement 'adipoylcarnitine (C6-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800347 2-hydroxydecanoate measurement '2-hydroxydecanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800346 glycohyocholate measurement 'glycohyocholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800345 margaroylcarnitine (C17) measurement 'margaroylcarnitine (C17) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800344 (R)-3-hydroxybutyrylcarnitine measurement '(R)-3-hydroxybutyrylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800343 2-stearoyl-GPE (18:0) measurement '2-stearoyl-GPE (18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800342 N-palmitoylglycine measurement 'N-palmitoylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800341 pregnanediol-3-glucuronide measurement 'pregnanediol-3-glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800340 N-stearoyltaurine measurement 'N-stearoyltaurine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800349 2-aminooctanoate measurement '2-aminooctanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800348 3b-hydroxy-5-cholenoic acid measurement '3b-hydroxy-5-cholenoic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800350 1-stearoyl-GPS (18:0) measurement '1-stearoyl-GPS (18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800358 1-dihomo-linolenoyl-GPE (20:3n3 or 6) measurement '1-dihomo-linolenoyl-GPE (20:3n3 or 6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800357 1-nonadecanoyl-GPC (19:0) measurement '1-nonadecanoyl-GPC (19:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800356 1-eicosenoyl-GPC (20:1) measurement '1-eicosenoyl-GPC (20:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800355 1-eicosapentaenoyl-GPC (20:5) measurement '1-eicosapentaenoyl-GPC (20:5) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800354 1-linolenoyl-GPC (18:3) measurement '1-linolenoyl-GPC (18:3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800353 1-eicosapentaenoyl-GPE (20:5) measurement '1-eicosapentaenoyl-GPE (20:5) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800352 2-aminoheptanoate measurement '2-aminoheptanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800351 3-hydroxyadipate measurement '3-hydroxyadipate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800359 1-(1-enyl-oleoyl)-GPE (P-18:1) measurement '1-(1-enyl-oleoyl)-GPE (P-18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800361 11-ketoetiocholanolone glucuronide measurement '11-ketoetiocholanolone glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800360 5alpha-androstan-3alpha,17beta-diol 17-glucuronide measurement '5alpha-androstan-3alpha,17beta-diol 17-glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800325 1-(1-enyl-stearoyl)-GPC (P-18:0) measurement '1-(1-enyl-stearoyl)-GPC (P-18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800324 1-(1-enyl-oleoyl)-GPC (P-18:1) measurement '1-(1-enyl-oleoyl)-GPC (P-18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800323 1-(1-enyl-palmitoyl)-GPC (P-16:0) measurement '1-(1-enyl-palmitoyl)-GPC (P-16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800322 1-lignoceroyl-GPC (24:0) measurement '1-lignoceroyl-GPC (24:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800321 1-adrenoyl-GPC (22:4) measurement '1-adrenoyl-GPC (22:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800320 1-erucoyl-GPC (22:1) measurement '1-erucoyl-GPC (22:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800329 (14 or 15)-methylpalmitate (a17:0 or i17:0) measurement '(14 or 15)-methylpalmitate (a17:0 or i17:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800328 ursocholate measurement 'ursocholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800327 tauroursodeoxycholate measurement 'tauroursodeoxycholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800326 glycoursodeoxycholate measurement 'glycoursodeoxycholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800336 2-stearoyl-GPI (18:0) measurement '2-stearoyl-GPI (18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800335 1-(1-enyl-stearoyl)-GPE (P-18:0) measurement '1-(1-enyl-stearoyl)-GPE (P-18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800334 1-(1-enyl-palmitoyl)-GPE (P-16:0) measurement '1-(1-enyl-palmitoyl)-GPE (P-16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800333 oleoyl-linoleoyl-glycerol (18:1/18:2) [2] measurement 'oleoyl-linoleoyl-glycerol (18:1/18:2) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800332 oleoyl-linoleoyl-glycerol (18:1/18:2) [1] measurement 'oleoyl-linoleoyl-glycerol (18:1/18:2) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800331 docosadioate (C22-DC) measurement 'docosadioate (C22-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800330 eicosanedioate (C20-DC) measurement 'eicosanedioate (C20-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800339 N-palmitoyltaurine measurement 'N-palmitoyltaurine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800338 linoleoylcarnitine (C18:2) measurement 'linoleoylcarnitine (C18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800337 N-oleoyltaurine measurement 'N-oleoyltaurine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800303 pregnenolone sulfate measurement 'pregnenolone sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800302 17alpha-hydroxypregnenolone 3-sulfate measurement '17alpha-hydroxypregnenolone 3-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800301 16a-hydroxy DHEA 3-sulfate measurement '16a-hydroxy DHEA 3-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800300 palmitoyl sphingomyelin (d18:1/16:0) measurement 'palmitoyl sphingomyelin (d18:1/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800309 tridecenedioate (C13:1-DC) measurement 'tridecenedioate (C13:1-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800308 13-HODE + 9-HODE measurement '13-HODE + 9-HODE measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800307 1-pentadecanoyl-GPC (15:0) measurement '1-pentadecanoyl-GPC (15:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800306 1-margaroyl-GPE (17:0) measurement '1-margaroyl-GPE (17:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800305 andro steroid monosulfate C19H28O6S (1) measurement 'andro steroid monosulfate C19H28O6S (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800304 5-HEPE measurement '5-HEPE measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800314 2R,3R-dihydroxybutyrate measurement '2R,3R-dihydroxybutyrate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800313 (16 or 17)-methylstearate (a19:0 or i19:0) measurement '(16 or 17)-methylstearate (a19:0 or i19:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800312 2s,3R-dihydroxybutyrate measurement '2s,3R-dihydroxybutyrate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800311 cis-4-decenoylcarnitine (C10:1) measurement 'cis-4-decenoylcarnitine (C10:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800310 4-cholesten-3-one measurement '4-cholesten-3-one measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800319 1-meadoyl-GPC (20:3n9) measurement '1-meadoyl-GPC (20:3n9) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800318 cis-4-decenoate (10:1n6) measurement 'cis-4-decenoate (10:1n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800317 androsterone glucuronide measurement 'androsterone glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800316 4-hydroxy-2-oxoglutaric acid measurement '4-hydroxy-2-oxoglutaric acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800315 isoursodeoxycholate measurement 'isoursodeoxycholate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800501 linoleoyl-linolenoyl-glycerol (18:2/18:3) [2] measurement 'linoleoyl-linolenoyl-glycerol (18:2/18:3) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800500 linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2] measurement 'linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800509 diacylglycerol (16:1/18:2 [2], 16:0/18:3 [1]) measurement 'diacylglycerol (16:1/18:2 [2], 16:0/18:3 [1]) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800508 oleoyl-arachidonoyl-glycerol (18:1/20:4) [2] measurement 'oleoyl-arachidonoyl-glycerol (18:1/20:4) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800507 oleoyl-arachidonoyl-glycerol (18:1/20:4) [1] measurement 'oleoyl-arachidonoyl-glycerol (18:1/20:4) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800506 diacylglycerol (14:0/18:1, 16:0/16:1) [2] measurement 'diacylglycerol (14:0/18:1, 16:0/16:1) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800505 diacylglycerol (14:0/18:1, 16:0/16:1) [1] measurement 'diacylglycerol (14:0/18:1, 16:0/16:1) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800504 palmitoleoyl-linoleoyl-glycerol (16:1/18:2) [1] measurement 'palmitoleoyl-linoleoyl-glycerol (16:1/18:2) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800503 linoleoyl-docosahexaenoyl-glycerol (18:2/22:6) [2] measurement 'linoleoyl-docosahexaenoyl-glycerol (18:2/22:6) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800502 linoleoyl-docosahexaenoyl-glycerol (18:2/22:6) [1] measurement 'linoleoyl-docosahexaenoyl-glycerol (18:2/22:6) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800512 diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [1] measurement 'diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800511 stearoyl-arachidonoyl-glycerol (18:0/20:4) [1] measurement 'stearoyl-arachidonoyl-glycerol (18:0/20:4) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800510 linoleoyl-linoleoyl-glycerol (18:2/18:2) [1] measurement 'linoleoyl-linoleoyl-glycerol (18:2/18:2) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800519 N-behenoyl-sphingadienine (d18:2/22:0) measurement 'N-behenoyl-sphingadienine (d18:2/22:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800518 lactosyl-N-behenoyl-sphingosine (d18:1/22:0) measurement 'lactosyl-N-behenoyl-sphingosine (d18:1/22:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800517 lactosyl-N-nervonoyl-sphingosine (d18:1/24:1) measurement 'lactosyl-N-nervonoyl-sphingosine (d18:1/24:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800516 N-palmitoyl-sphingadienine (d18:2/16:0) measurement 'N-palmitoyl-sphingadienine (d18:2/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800515 1-palmityl-2-palmitoyl-GPC (O-16:0/16:0) measurement '1-palmityl-2-palmitoyl-GPC (O-16:0/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800514 1-palmityl-GPE (O-16:0) measurement '1-palmityl-GPE (O-16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800513 diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [2] measurement 'diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [2] measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/HP_0430008 Accessory eyelid 'Accessory eyelid' SubClassOf 'Abnormality of the face' http://www.ebi.ac.uk/efo/EFO_0800489 1-linoleoyl-2-docosapentaenyol-GPC (18:2/22:5n3) measurement '1-linoleoyl-2-docosapentaenyol-GPC (18:2/22:5n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800488 phosphatidylcholine (18:0/20:2, 20:0/18:2) measurement 'phosphatidylcholine (18:0/20:2, 20:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800487 1-oleoyl-2-docosapentaenoyl-GPC (18:1/22:5n3) measurement '1-oleoyl-2-docosapentaenoyl-GPC (18:1/22:5n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800486 phosphatidylcholine (15:0/18:1, 17:0/16:1, 16:0/17:1) measurement 'phosphatidylcholine (15:0/18:1, 17:0/16:1, 16:0/17:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800485 phosphatidylcholine (14:0/14:0, 16:0/12:0) measurement 'phosphatidylcholine (14:0/14:0, 16:0/12:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800484 1-palmitoleoyl-2-linolenoyl-GPC (16:1/18:3) measurement '1-palmitoleoyl-2-linolenoyl-GPC (16:1/18:3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800483 1-linoleoyl-2-linolenoyl-GPC (18:2/18:3) measurement '1-linoleoyl-2-linolenoyl-GPC (18:2/18:3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800493 palmitoleoylcarnitine (C16:1) measurement 'palmitoleoylcarnitine (C16:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800492 1-myristoyl-2-eicosapentaenoyl-GPC (14:0/20:5) measurement '1-myristoyl-2-eicosapentaenoyl-GPC (14:0/20:5) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800491 hexadecadienoate (16:2n6) measurement 'hexadecadienoate (16:2n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800490 1-(1-enyl-oleoyl)-2-docosahexaenoyl-GPE (P-18:1/22:6) measurement '1-(1-enyl-oleoyl)-2-docosahexaenoyl-GPE (P-18:1/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800499 linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1] measurement 'linoleoyl-arachidonoyl-glycerol (18:2/20:4) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800498 oleoyl-oleoyl-glycerol (18:1/18:1) [2] measurement 'oleoyl-oleoyl-glycerol (18:1/18:1) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800497 oleoyl-oleoyl-glycerol (18:1/18:1) [1] measurement 'oleoyl-oleoyl-glycerol (18:1/18:1) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800496 palmitoyl-oleoyl-glycerol (16:0/18:1) [2] measurement 'palmitoyl-oleoyl-glycerol (16:0/18:1) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800495 palmitoyl-oleoyl-glycerol (16:0/18:1) [1] measurement 'palmitoyl-oleoyl-glycerol (16:0/18:1) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800494 pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement 'pimeloylcarnitine/3-methyladipoylcarnitine (C7-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800468 phosphatidylcholine (18:0/20:5, 16:0/22:5n6) measurement 'phosphatidylcholine (18:0/20:5, 16:0/22:5n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800467 phosphatidylcholine (16:0/22:5n3, 18:1/20:4) measurement 'phosphatidylcholine (16:0/22:5n3, 18:1/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800466 1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement '1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800465 1-(1-enyl-palmitoyl)-2-myristoyl-GPC (P-16:0/14:0) measurement '1-(1-enyl-palmitoyl)-2-myristoyl-GPC (P-16:0/14:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800464 1-(1-enyl-palmitoyl)-2-palmitoleoyl-GPC (P-16:0/16:1) measurement '1-(1-enyl-palmitoyl)-2-palmitoleoyl-GPC (P-16:0/16:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800463 1-stearoyl-2-meadoyl-GPC (18:0/20:3n9) measurement '1-stearoyl-2-meadoyl-GPC (18:0/20:3n9) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800462 1-oleoyl-2-eicosapentaenoyl-GPC (18:1/20:5) measurement '1-oleoyl-2-eicosapentaenoyl-GPC (18:1/20:5) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800461 1-oleoyl-2-dihomo-linolenoyl-GPC (18:1/20:3) measurement '1-oleoyl-2-dihomo-linolenoyl-GPC (18:1/20:3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800469 1-stearoyl-2-oleoyl-GPI (18:0/18:1) measurement '1-stearoyl-2-oleoyl-GPI (18:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800471 1-oleoyl-2-docosahexaenoyl-GPE (18:1/22:6) measurement '1-oleoyl-2-docosahexaenoyl-GPE (18:1/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800470 1-oleoyl-2-arachidonoyl-GPE (18:1/20:4) measurement '1-oleoyl-2-arachidonoyl-GPE (18:1/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800479 docosahexaenoylcholine measurement 'docosahexaenoylcholine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800478 arachidonoylcholine measurement 'arachidonoylcholine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800477 oleoylcholine measurement 'oleoylcholine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800476 glycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement 'glycosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800475 (S)-3-hydroxybutyrylcarnitine measurement '(S)-3-hydroxybutyrylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800474 glycochenodeoxycholate glucuronide (1) measurement 'glycochenodeoxycholate glucuronide (1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800473 palmitoylcholine measurement 'palmitoylcholine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800472 1-linoleoyl-GPG (18:2) measurement '1-linoleoyl-GPG (18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800482 eicosapentaenoylcholine measurement 'eicosapentaenoylcholine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800481 dihomo-linolenoyl-choline measurement 'dihomo-linolenoyl-choline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800480 palmitoloelycholine measurement 'palmitoloelycholine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800446 1-pentadecanoyl-2-arachidonoyl-GPC (15:0/20:4) measurement '1-pentadecanoyl-2-arachidonoyl-GPC (15:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800445 1-linoleoyl-GPA (18:2) measurement '1-linoleoyl-GPA (18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800444 1-palmitoyl-2-dihomo-linolenoyl-GPE (16:0/20:3) measurement '1-palmitoyl-2-dihomo-linolenoyl-GPE (16:0/20:3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800443 1-oleoyl-2-linoleoyl-GPE (18:1/18:2) measurement '1-oleoyl-2-linoleoyl-GPE (18:1/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800442 1-palmitoyl-2-alpha-linolenoyl-GPC (16:0/18:3n3) measurement '1-palmitoyl-2-alpha-linolenoyl-GPC (16:0/18:3n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800441 1-palmitoleoyl-2-linoleoyl-GPC (16:1/18:2) measurement '1-palmitoleoyl-2-linoleoyl-GPC (16:1/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800440 1-(1-enyl-palmitoyl)-2-linoleoyl-GPE (P-16:0/18:2) measurement '1-(1-enyl-palmitoyl)-2-linoleoyl-GPE (P-16:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800449 1-oleoyl-2-docosahexaenoyl-GPC (18:1/22:6) measurement '1-oleoyl-2-docosahexaenoyl-GPC (18:1/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800448 1-margaroyl-2-docosahexaenoyl-GPC (17:0/22:6) measurement '1-margaroyl-2-docosahexaenoyl-GPC (17:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800447 1-pentadecanoyl-2-docosahexaenoyl-GPC (15:0/22:6) measurement '1-pentadecanoyl-2-docosahexaenoyl-GPC (15:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800457 1-palmitoyl-2-adrenoyl-GPC (16:0/22:4) measurement '1-palmitoyl-2-adrenoyl-GPC (16:0/22:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800456 1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n6) measurement '1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800455 1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n3) measurement '1-stearoyl-2-docosapentaenoyl-GPC (18:0/22:5n3) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800454 1-myristoyl-2-docosahexaenoyl-GPC (14:0/22:6) measurement '1-myristoyl-2-docosahexaenoyl-GPC (14:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800453 1-myristoyl-2-arachidonoyl-GPC (14:0/20:4) measurement '1-myristoyl-2-arachidonoyl-GPC (14:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800452 1-myristoyl-2-linoleoyl-GPC (14:0/18:2) measurement '1-myristoyl-2-linoleoyl-GPC (14:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800451 1-(1-enyl-stearoyl)-2-linoleoyl-GPC (P-18:0/18:2) measurement '1-(1-enyl-stearoyl)-2-linoleoyl-GPC (P-18:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800450 1-linoleoyl-2-arachidonoyl-GPC (18:2/20:4n6) measurement '1-linoleoyl-2-arachidonoyl-GPC (18:2/20:4n6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800459 1-stearoyl-2-adrenoyl-GPC (18:0/22:4) measurement '1-stearoyl-2-adrenoyl-GPC (18:0/22:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800458 1-palmitoyl-2-meadoyl-GPC (16:0/20:3n9) measurement '1-palmitoyl-2-meadoyl-GPC (16:0/20:3n9) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800460 1-stearyl-GPC (O-18:0) measurement '1-stearyl-GPC (O-18:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800424 1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPC (P-18:0/22:6) measurement '1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPC (P-18:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800423 1-(1-enyl-palmitoyl)-2-arachidonoyl-GPC (P-16:0/20:4) measurement '1-(1-enyl-palmitoyl)-2-arachidonoyl-GPC (P-16:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800422 1-(1-enyl-palmitoyl)-2-linoleoyl-GPC (P-16:0/18:2) measurement '1-(1-enyl-palmitoyl)-2-linoleoyl-GPC (P-16:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800421 1-(1-enyl-palmitoyl)-2-docosahexaenoyl-GPC (P-16:0/22:6) measurement '1-(1-enyl-palmitoyl)-2-docosahexaenoyl-GPC (P-16:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800420 1-(1-enyl-palmitoyl)-2-oleoyl-GPC (P-16:0/18:1) measurement '1-(1-enyl-palmitoyl)-2-oleoyl-GPC (P-16:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800429 lactosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement 'lactosyl-N-palmitoyl-sphingosine (d18:1/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800428 N-palmitoyl-sphinganine (d18:0/16:0) measurement 'N-palmitoyl-sphinganine (d18:0/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800427 behenoyl dihydrosphingomyelin (d18:0/22:0) measurement 'behenoyl dihydrosphingomyelin (d18:0/22:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800426 1-palmityl-2-arachidonoyl-GPC (O-16:0/20:4) measurement '1-palmityl-2-arachidonoyl-GPC (O-16:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800425 1-palmityl-2-oleoyl-GPC (O-16:0/18:1) measurement '1-palmityl-2-oleoyl-GPC (O-16:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800435 palmitoyl-linoleoyl-glycerol (16:0/18:2) [1] measurement 'palmitoyl-linoleoyl-glycerol (16:0/18:2) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800434 1-stearoyl-2-dihomo-linolenoyl-GPC (18:0/20:3n3 or 6) measurement '1-stearoyl-2-dihomo-linolenoyl-GPC (18:0/20:3n3 or 6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800433 myristoyl dihydrosphingomyelin (d18:0/14:0) measurement 'myristoyl dihydrosphingomyelin (d18:0/14:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800432 1-margaroyl-2-linoleoyl-GPC (17:0/18:2) measurement '1-margaroyl-2-linoleoyl-GPC (17:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800431 1-margaroyl-2-oleoyl-GPC (17:0/18:1) measurement '1-margaroyl-2-oleoyl-GPC (17:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800430 1-pentadecanoyl-2-linoleoyl-GPC (15:0/18:2) measurement '1-pentadecanoyl-2-linoleoyl-GPC (15:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800439 1-palmitoyl-2-oleoyl-GPI (16:0/18:1) measurement '1-palmitoyl-2-oleoyl-GPI (16:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800438 palmitoyl-linoleoyl-glycerol (16:0/18:2) [2] measurement 'palmitoyl-linoleoyl-glycerol (16:0/18:2) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800437 palmitoleoyl-oleoyl-glycerol (16:1/18:1) [2] measurement 'palmitoleoyl-oleoyl-glycerol (16:1/18:1) [2] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800436 palmitoleoyl-oleoyl-glycerol (16:1/18:1) [1] measurement 'palmitoleoyl-oleoyl-glycerol (16:1/18:1) [1] measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800402 1-stearoyl-2-linoleoyl-GPE (18:0/18:2) measurement '1-stearoyl-2-linoleoyl-GPE (18:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800401 tricosanoyl sphingomyelin (d18:1/23:0) measurement 'tricosanoyl sphingomyelin (d18:1/23:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800400 palmitoyl dihydrosphingomyelin (d18:0/16:0) measurement 'palmitoyl dihydrosphingomyelin (d18:0/16:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800409 1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) measurement '1-palmitoyl-2-arachidonoyl-GPE (16:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800408 1-palmitoyl-2-eicosapentaenoyl-GPC (16:0/20:5) measurement '1-palmitoyl-2-eicosapentaenoyl-GPC (16:0/20:5) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800407 1-palmitoyl-2-dihomo-linolenoyl-GPC (16:0/20:3n3 or 6) measurement '1-palmitoyl-2-dihomo-linolenoyl-GPC (16:0/20:3n3 or 6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800406 1-palmitoyl-2-palmitoleoyl-GPC(16:0/16:1) measurement '1-palmitoyl-2-palmitoleoyl-GPC(16:0/16:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800405 1-oleoyl-2-linoleoyl-GPC (18:1/18:2) measurement '1-oleoyl-2-linoleoyl-GPC (18:1/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800404 1-stearoyl-2-linoleoyl-GPC (18:0/18:2) measurement '1-stearoyl-2-linoleoyl-GPC (18:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800403 1-stearoyl-2-arachidonoyl-GPE (18:0/20:4) measurement '1-stearoyl-2-arachidonoyl-GPE (18:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800413 1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement '1-stearoyl-2-linoleoyl-GPI (18:0/18:2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800412 1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement '1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800411 1-stearoyl-2-docosahexaenoyl-GPE (18:0/22:6) measurement '1-stearoyl-2-docosahexaenoyl-GPE (18:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800410 1-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6) measurement '1-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800419 1-(1-enyl-palmitoyl)-2-oleoyl-GPE (P-16:0/18:1) measurement '1-(1-enyl-palmitoyl)-2-oleoyl-GPE (P-16:0/18:1) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800418 1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPE (P-18:0/22:6) measurement '1-(1-enyl-stearoyl)-2-docosahexaenoyl-GPE (P-18:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800417 1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4) measurement '1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800416 1-(1-enyl-palmitoyl)-2-docosahexaenoyl-GPE (P-16:0/22:6) measurement '1-(1-enyl-palmitoyl)-2-docosahexaenoyl-GPE (P-16:0/22:6) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800415 1-(1-enyl-stearoyl)-2-arachidonoyl-GPE (P-18:0/20:4) measurement '1-(1-enyl-stearoyl)-2-arachidonoyl-GPE (P-18:0/20:4) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800414 1-palmitoyl-2-palmitoleoyl-GPE (16:0/16:1) measurement '1-palmitoyl-2-palmitoleoyl-GPE (16:0/16:1) measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0001949 acute thyroiditis 'acute thyroiditis' SubClassOf 'thyroiditis' 'acute thyroiditis' SubClassOf 'acute disease' http://purl.obolibrary.org/obo/MONDO_0013950 peroxisome biogenesis disorder 11B 'peroxisome biogenesis disorder 11B' SubClassOf 'peroxisome biogenesis disorder due to PEX13 defect' 'peroxisome biogenesis disorder 11B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0013967 peroxisome biogenesis disorder 14B 'peroxisome biogenesis disorder 14B' SubClassOf 'peroxisome biogenesis disorder due to PEX11B defect' 'peroxisome biogenesis disorder 14B' SubClassOf 'bearer_of' some 'non-classic presentation' http://purl.obolibrary.org/obo/MONDO_0035162 PIK3CA-related overgrowth syndrome 'PIK3CA-related overgrowth syndrome' SubClassOf 'overgrowth syndrome' http://purl.obolibrary.org/obo/MONDO_0013748 ventricular septal defect 2 'ventricular septal defect 2' SubClassOf 'ventricular septal defect' http://purl.obolibrary.org/obo/MONDO_0013749 ventricular septal defect 3 'ventricular septal defect 3' SubClassOf 'ventricular septal defect' http://www.ebi.ac.uk/efo/EFO_0800089 indolepropionylglycine measurement 'indolepropionylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800088 catechol glucuronide measurement 'catechol glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800087 2-methylserine measurement '2-methylserine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800097 3-amino-2-piperidone measurement '3-amino-2-piperidone measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800096 8-methoxykynurenate measurement '8-methoxykynurenate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800095 N-carbamoylvaline measurement 'N-carbamoylvaline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800094 N,N,N-trimethyl-alanylproline betaine (TMAP) measurement 'N,N,N-trimethyl-alanylproline betaine (TMAP) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800093 N-methylhydroxyproline measurement 'N-methylhydroxyproline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800092 hydroxyasparagine measurement 'hydroxyasparagine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800091 (N(1) + N(8))-acetylspermidine measurement '(N(1) + N(8))-acetylspermidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800090 N,N,N-trimethyl-5-aminovalerate measurement 'N,N,N-trimethyl-5-aminovalerate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800099 6-bromotryptophan measurement '6-bromotryptophan measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800098 N,N-dimethylalanine measurement 'N,N-dimethylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800069 N-formylanthranilic acid measurement 'N-formylanthranilic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800068 acisoga measurement 'acisoga measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800067 N-delta-acetylornithine measurement 'N-delta-acetylornithine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800066 6-oxopiperidine-2-carboxylate measurement '6-oxopiperidine-2-carboxylate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800065 N-acetyl-1-methylhistidine measurement 'N-acetyl-1-methylhistidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800075 N-formylphenylalanine measurement 'N-formylphenylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800074 3-methylglutarylcarnitine (2) measurement '3-methylglutarylcarnitine (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800073 fructosyllysine measurement 'fructosyllysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800072 methionine sulfone measurement 'methionine sulfone measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800071 3-methoxytyramine sulfate measurement '3-methoxytyramine sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800070 N2,N5-diacetylornithine measurement 'N2,N5-diacetylornithine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800079 p-cresol glucuronide measurement 'p-cresol glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800078 vanillactate measurement 'vanillactate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800077 N-acetylhistamine measurement 'N-acetylhistamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800076 tyramine O-sulfate measurement 'tyramine O-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800086 7-hydroxyindole sulfate measurement '7-hydroxyindole sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800085 5-hydroxyindole sulfate measurement '5-hydroxyindole sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800084 phenol glucuronide measurement 'phenol glucuronide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800083 N-acetylkynurenine (2) measurement 'N-acetylkynurenine (2) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800082 dopamine 3-O-sulfate measurement 'dopamine 3-O-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800081 dopamine 4-sulfate measurement 'dopamine 4-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800080 4-methoxyphenol sulfate measurement '4-methoxyphenol sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800049 cysteinylglycine disulfide measurement 'cysteinylglycine disulfide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800048 5-(galactosylhydroxy)-L-lysine measurement '5-(galactosylhydroxy)-L-lysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800047 3-methylglutaconate measurement '3-methylglutaconate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800046 alpha-ketoglutaramate measurement 'alpha-ketoglutaramate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800045 N-acetyl-cadaverine measurement 'N-acetyl-cadaverine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800044 N-acetyl-3-methylhistidine measurement 'N-acetyl-3-methylhistidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800043 indole-3-carboxylate measurement 'indole-3-carboxylate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800053 gamma-carboxyglutamate measurement 'gamma-carboxyglutamate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800052 4-hydroxyglutamate measurement '4-hydroxyglutamate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800051 hydantoin-5-propionate measurement 'hydantoin-5-propionate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800050 formiminoglutamate measurement 'formiminoglutamate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800059 carboxyethyl-GABA measurement 'carboxyethyl-GABA measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800058 S-methylcysteine sulfoxide measurement 'S-methylcysteine sulfoxide measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800057 1-methyl-5-imidazoleacetate measurement '1-methyl-5-imidazoleacetate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800056 2-oxoarginine measurement '2-oxoarginine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800055 argininate measurement 'argininate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800054 S-methylcysteine measurement 'S-methylcysteine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800064 N-methyltaurine measurement 'N-methyltaurine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800063 lanthionine measurement 'lanthionine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800062 imidazole propionate measurement 'imidazole propionate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800061 N6-methyllysine measurement 'N6-methyllysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800060 beta-citrylglutamate measurement 'beta-citrylglutamate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800028 N-acetylcitrulline measurement 'N-acetylcitrulline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800027 2-hydroxy-3-methylvalerate measurement '2-hydroxy-3-methylvalerate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800026 2-methylbutyrylcarnitine (C5) measurement '2-methylbutyrylcarnitine (C5) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800025 isovalerylglycine measurement 'isovalerylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800024 isovalerylcarnitine (C5) measurement 'isovalerylcarnitine (C5) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800023 alpha-hydroxyisovalerate measurement 'alpha-hydroxyisovalerate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800022 N-acetylhistidine measurement 'N-acetylhistidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800021 N-acetylisoleucine measurement 'N-acetylisoleucine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800029 isobutyrylglycine measurement 'isobutyrylglycine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800031 beta-hydroxyisovaleroylcarnitine measurement 'beta-hydroxyisovaleroylcarnitine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800030 glutarylcarnitine (C5-DC) measurement 'glutarylcarnitine (C5-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800039 N-methylproline measurement 'N-methylproline measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800038 N-acetylserine measurement 'N-acetylserine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800037 dimethylarginine (SDMA + ADMA) measurement 'dimethylarginine (SDMA + ADMA) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800036 N6-acetyllysine measurement 'N6-acetyllysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800035 indoleacetylglutamine measurement 'indoleacetylglutamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800034 1-ribosyl-imidazoleacetate measurement '1-ribosyl-imidazoleacetate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800033 N-acetyl-aspartyl-glutamate (NAAG) measurement 'N-acetyl-aspartyl-glutamate (NAAG) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800032 tiglylcarnitine (C5:1-DC) measurement 'tiglylcarnitine (C5:1-DC) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800042 S-methylmethionine measurement 'S-methylmethionine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800041 cysteine sulfinic acid measurement 'cysteine sulfinic acid measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800040 5-methylthioribose measurement '5-methylthioribose measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800006 N-alpha-acetylornithine measurement 'N-alpha-acetylornithine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800005 N-acetylglutamate measurement 'N-acetylglutamate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800004 imidazole lactate measurement 'imidazole lactate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800003 4-guanidinobutanoate measurement '4-guanidinobutanoate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800002 5-hydroxylysine measurement '5-hydroxylysine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800001 intracranial germ cell tumor 'intracranial germ cell tumor' SubClassOf 'central nervous system germ cell tumor' http://www.ebi.ac.uk/efo/EFO_0800000 folate intake measurement 'folate intake measurement' SubClassOf 'diet measurement' http://www.ebi.ac.uk/efo/EFO_0800009 alpha-hydroxyisocaproate measurement 'alpha-hydroxyisocaproate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800008 5-aminovalerate measurement '5-aminovalerate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800007 gentisate measurement 'gentisate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800017 N-acetylglutamine measurement 'N-acetylglutamine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800016 guanidinosuccinate measurement 'guanidinosuccinate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800015 1-methyl-4-imidazoleacetate measurement '1-methyl-4-imidazoleacetate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800014 3-hydroxy-2-ethylpropionate measurement '3-hydroxy-2-ethylpropionate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800013 cysteine s-sulfate measurement 'cysteine s-sulfate measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800012 N-acetylaspartate (NAA) measurement 'N-acetylaspartate (NAA) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800011 1-methylguanidine measurement '1-methylguanidine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800010 isovalerate (i5:0) measurement 'isovalerate (i5:0) measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800019 N-acetylphenylalanine measurement 'N-acetylphenylalanine measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800018 N-acetyltryptophan measurement 'N-acetyltryptophan measurement' SubClassOf 'metabolite measurement' http://www.ebi.ac.uk/efo/EFO_0800020 N-acetylthreonine measurement 'N-acetylthreonine measurement' SubClassOf 'metabolite measurement' http://purl.obolibrary.org/obo/MONDO_0001384 myopia 'myopia' SubClassOf 'refractive error' http://purl.obolibrary.org/obo/MONDO_0025354 spermatogenic failure, X-linked, 3 'spermatogenic failure, X-linked, 3' SubClassOf 'azoospermia' http://www.ebi.ac.uk/efo/EFO_0021989 RAC-beta serine/threonine-protein kinase measurement 'RAC-beta serine/threonine-protein kinase measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021986 calcium/calmodulin-dependent 3';5'-cyclic nucleotide phosphodiesterase 1A measurement 'calcium/calmodulin-dependent 3';5'-cyclic nucleotide phosphodiesterase 1A measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021985 dual 3';5'-cyclic-AMP and -GMP phosphodiesterase 11A measurement 'dual 3';5'-cyclic-AMP and -GMP phosphodiesterase 11A measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021988 proto-oncogene vav measurement 'proto-oncogene vav measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021987 ras-related C3 botulinum toxin substrate 3 measurement 'ras-related C3 botulinum toxin substrate 3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021982 protein deglycase DJ-1 measurement 'protein deglycase DJ-1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021981 superoxide dismutase [Mn]; mitochondrial measurement 'superoxide dismutase [Mn]; mitochondrial measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021984 [pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1; mitochondrial measurement '[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1; mitochondrial measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021983 CD83 antigen measurement 'CD83 antigen measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021980 adhesion G-protein coupled receptor G5 measurement 'adhesion G-protein coupled receptor G5 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021979 alpha-(1;3)-fucosyltransferase 5 measurement 'alpha-(1;3)-fucosyltransferase 5 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021978 protein lin-7 homolog B measurement 'protein lin-7 homolog B measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021975 heat shock 70 kDa protein 1A measurement 'heat shock 70 kDa protein 1A measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021974 SLIT and NTRK-like protein 1 measurement 'SLIT and NTRK-like protein 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021977 alcohol dehydrogenase [NADP(+)] measurement 'alcohol dehydrogenase [NADP(+)] measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021976 interleukin-17D measurement 'interleukin-17D measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021971 PIK3CA/PIK3R1 measurement 'PIK3CA/PIK3R1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021970 low affinity immunoglobulin gamma Fc region receptor II-b measurement 'low affinity immunoglobulin gamma Fc region receptor II-b measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0021973 interleukin-17B measurement 'interleukin-17B measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021972 RAC-alpha/beta/gamma serine/threonine-protein kinase measurement 'RAC-alpha/beta/gamma serine/threonine-protein kinase measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021997 3-hydroxyanthranilate 3;4-dioxygenase measurement '3-hydroxyanthranilate 3;4-dioxygenase measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021996 14-3-3 protein zeta/delta measurement '14-3-3 protein zeta/delta measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021999 eukaryotic translation initiation factor 4H measurement 'eukaryotic translation initiation factor 4H measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021998 bcl2-associated agonist of cell death measurement 'bcl2-associated agonist of cell death measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021993 tumor necrosis factor receptor superfamily member 10B measurement 'tumor necrosis factor receptor superfamily member 10B measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021992 serine/threonine-protein kinase WNK3 measurement 'serine/threonine-protein kinase WNK3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021995 noggin measurement 'noggin measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021994 BH3-interacting domain death agonist measurement 'BH3-interacting domain death agonist measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021991 heat shock protein HSP 90-beta measurement 'heat shock protein HSP 90-beta measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021990 growth factor receptor-bound protein 2 measurement 'growth factor receptor-bound protein 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021909 transcription factor AP-1 measurement 'transcription factor AP-1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021906 E3 SUMO-protein ligase PIAS4 measurement 'E3 SUMO-protein ligase PIAS4 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021905 CCAAT/enhancer-binding protein beta measurement 'CCAAT/enhancer-binding protein beta measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021908 interferon regulatory factor 1 measurement 'interferon regulatory factor 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021907 signal transducer and activator of transcription 3 measurement 'signal transducer and activator of transcription 3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021904 E3 ubiquitin-protein ligase CHIP measurement 'E3 ubiquitin-protein ligase CHIP measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021928 bcl-2-like protein 2 measurement 'bcl-2-like protein 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021927 protein S100-A6 measurement 'protein S100-A6 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021929 chorionic somatomammotropin hormone measurement 'chorionic somatomammotropin hormone measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021924 CD59 glycoprotein measurement 'CD59 glycoprotein measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021923 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 measurement 'ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021926 hypoxia-inducible factor 1-alpha measurement 'hypoxia-inducible factor 1-alpha measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021925 fatty acid-binding protein; liver measurement 'fatty acid-binding protein; liver measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021920 toll-like receptor 4 measurement 'toll-like receptor 4 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021922 alpha-enolase measurement 'alpha-enolase measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021921 regenerating islet-derived protein 4 measurement 'regenerating islet-derived protein 4 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021917 glycerol-3-phosphate dehydrogenase [NAD(+)]; cytoplasmic measurement 'glycerol-3-phosphate dehydrogenase [NAD(+)]; cytoplasmic measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021916 signal transducer and activator of transcription 6 measurement 'signal transducer and activator of transcription 6 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021919 pyridoxal kinase measurement 'pyridoxal kinase measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021918 galectin-10 measurement 'galectin-10 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021913 mothers against decapentaplegic homolog 3 measurement 'mothers against decapentaplegic homolog 3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021912 myc proto-oncogene protein measurement 'myc proto-oncogene protein measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021915 signal transducer and activator of transcription 1-alpha/beta measurement 'signal transducer and activator of transcription 1-alpha/beta measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021914 mothers against decapentaplegic homolog 2 measurement 'mothers against decapentaplegic homolog 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021911 2'-5'-oligoadenylate synthase 1 measurement '2'-5'-oligoadenylate synthase 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021910 induced myeloid leukemia cell differentiation protein Mcl-1 measurement 'induced myeloid leukemia cell differentiation protein Mcl-1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021949 amphoterin-induced protein 2 measurement 'amphoterin-induced protein 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021946 interferon alpha-10 measurement 'interferon alpha-10 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021945 apolipoprotein M measurement 'apolipoprotein M measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021948 HERV-H LTR-associating protein 2 measurement 'HERV-H LTR-associating protein 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021947 interferon alpha-7 measurement 'interferon alpha-7 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021942 tumor necrosis factor receptor superfamily member 10D measurement 'tumor necrosis factor receptor superfamily member 10D measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021941 PILR alpha-associated neural protein measurement 'PILR alpha-associated neural protein measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021944 ephrin-A2 measurement 'ephrin-A2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021943 E3 ubiquitin-protein ligase ZNRF3 measurement 'E3 ubiquitin-protein ligase ZNRF3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021940 latent-transforming growth factor beta-binding protein 4 measurement 'latent-transforming growth factor beta-binding protein 4 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021939 hexokinase-1 measurement 'hexokinase-1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021938 hexokinase-2 measurement 'hexokinase-2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021935 choline/ethanolamine kinase measurement 'choline/ethanolamine kinase measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021934 follistatin-related protein 1 measurement 'follistatin-related protein 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021937 low-density lipoprotein receptor measurement 'low-density lipoprotein receptor measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021936 desmocollin-2 measurement 'desmocollin-2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021931 Ly6/PLAUR domain-containing protein 3 measurement 'Ly6/PLAUR domain-containing protein 3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021930 ephrin-B1 measurement 'ephrin-B1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021933 B-cell lymphoma 6 protein measurement 'B-cell lymphoma 6 protein measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021932 neuronal growth regulator 1 measurement 'neuronal growth regulator 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021968 a disintegrin and metalloproteinase with thrombospondin motifs 1 measurement 'a disintegrin and metalloproteinase with thrombospondin motifs 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021967 inducible T-cell costimulator measurement 'inducible T-cell costimulator measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021969 low affinity immunoglobulin gamma Fc region receptor II-a measurement 'low affinity immunoglobulin gamma Fc region receptor II-a measurement' SubClassOf 'blood protein measurement' http://www.ebi.ac.uk/efo/EFO_0021964 neutrophil gelatinase-associated lipocalin measurement 'neutrophil gelatinase-associated lipocalin measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021963 interleukin-17F measurement 'interleukin-17F measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021966 histone H1.2 measurement 'histone H1.2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021965 serine/threonine-protein kinase Chk1 measurement 'serine/threonine-protein kinase Chk1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021960 growth/differentiation factor 8 measurement 'growth/differentiation factor 8 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021962 growth/differentiation factor 11/8 measurement 'growth/differentiation factor 11/8 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021961 C-C motif chemokine 2 measurement 'C-C motif chemokine 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021957 14-3-3 protein beta/alpha measurement '14-3-3 protein beta/alpha measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021956 ephrin-A3 measurement 'ephrin-A3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021959 annexin A5 measurement 'annexin A5 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021958 14-3-3 protein epsilon measurement '14-3-3 protein epsilon measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021953 histone H2A type 3 measurement 'histone H2A type 3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021952 histone H2B type 2-E measurement 'histone H2B type 2-E measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021955 interleukin-36 beta measurement 'interleukin-36 beta measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021954 histone H3.1 measurement 'histone H3.1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021951 neuregulin-4 measurement 'neuregulin-4 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021950 relaxin receptor 1 measurement 'relaxin receptor 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021869 protein FAM3D measurement 'protein FAM3D measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021868 sPARC-related modular calcium-binding protein 1 measurement 'sPARC-related modular calcium-binding protein 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021865 trefoil factor 1 measurement 'trefoil factor 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021864 semaphorin-5A measurement 'semaphorin-5A measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021867 plexin-B2 measurement 'plexin-B2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021866 cD177 antigen measurement 'cD177 antigen measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021861 leucine-rich repeat transmembrane protein FLRT3 measurement 'leucine-rich repeat transmembrane protein FLRT3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021860 leucine-rich repeat transmembrane protein FLRT2 measurement 'leucine-rich repeat transmembrane protein FLRT2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021863 galectin-9 measurement 'galectin-9 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021862 3-hydroxyanthranilate 3,4-dioxygenase measurement '3-hydroxyanthranilate 3,4-dioxygenase measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021858 synaptosomal-associated protein 25 measurement 'synaptosomal-associated protein 25 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021857 protein FAM3B measurement 'protein FAM3B measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021859 phosphoglucomutase-1 measurement 'phosphoglucomutase-1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021854 apolipoprotein L1 measurement 'apolipoprotein L1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021853 galactoside 3(4)-L-fucosyltransferase measurement 'galactoside 3(4)-L-fucosyltransferase measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021856 prolyl endopeptidase FAP measurement 'prolyl endopeptidase FAP measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021855 fatty acid-binding protein, liver measurement 'fatty acid-binding protein, liver measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021850 interferon alpha/beta receptor 1 measurement 'interferon alpha/beta receptor 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021852 secreted and transmembrane protein 1 measurement 'secreted and transmembrane protein 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021851 interleukin-36 alpha measurement 'interleukin-36 alpha measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021887 glial cell line-derived neurotrophic factor measurement 'glial cell line-derived neurotrophic factor measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021886 e3 ubiquitin-protein ligase RNF43 measurement 'e3 ubiquitin-protein ligase RNF43 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021889 lumican measurement 'lumican measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021888 glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic measurement 'glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021883 betacellulin measurement 'betacellulin measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021882 natural killer cell receptor 2B4 measurement 'natural killer cell receptor 2B4 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021885 semaphorin-6B measurement 'semaphorin-6B measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021884 transgelin-2 measurement 'transgelin-2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021881 ubiquitin carboxyl-terminal hydrolase 25 measurement 'ubiquitin carboxyl-terminal hydrolase 25 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021880 quinone oxidoreductase-like protein 1 measurement 'quinone oxidoreductase-like protein 1 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021879 immunoglobulin superfamily containing leucine-rich repeat protein 2 measurement 'immunoglobulin superfamily containing leucine-rich repeat protein 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021876 leucine-rich repeat serine/threonine-protein kinase 2 measurement 'leucine-rich repeat serine/threonine-protein kinase 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021875 ubiquitin-like protein ISG15 measurement 'ubiquitin-like protein ISG15 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021878 r-spondin-3 measurement 'r-spondin-3 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021877 platelet receptor Gi24 measurement 'platelet receptor Gi24 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021872 non-histone chromosomal protein HMG-14 measurement 'non-histone chromosomal protein HMG-14 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021871 glypican-6 measurement 'glypican-6 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021874 ankyrin-2 measurement 'ankyrin-2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021873 low-density lipoprotein receptor-related protein 1B measurement 'low-density lipoprotein receptor-related protein 1B measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021870 cysteine-rich with EGF-like domain protein 1 measurement 'cysteine-rich with EGF-like domain protein 1 measurement' SubClassOf 'protein measurement' http://purl.obolibrary.org/obo/MONDO_0025149 encephalopathy, bovine spongiform 'encephalopathy, bovine spongiform' SubClassOf 'cross-species analog' some 'variant Creutzfeldt-Jakob disease' 'encephalopathy, bovine spongiform' SubClassOf 'disease shares features of' some 'variant Creutzfeldt-Jakob disease' 'encephalopathy, bovine spongiform' SubClassOf 'cattle disease' 'encephalopathy, bovine spongiform' SubClassOf 'prion disease, non-human animal' 'encephalopathy, bovine spongiform' EquivalentTo 'disease' and ('cross-species analog' some 'variant Creutzfeldt-Jakob disease') http://www.ebi.ac.uk/efo/EFO_0021894 lipopolysaccharide-binding protein measurement 'lipopolysaccharide-binding protein measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021893 protein S100-A4 measurement 'protein S100-A4 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021896 response to rosuvastatin 'response to rosuvastatin' SubClassOf 'has_input' some 'rosuvastatin' 'response to rosuvastatin' SubClassOf 'response to statin' http://www.ebi.ac.uk/efo/EFO_0021895 formimidoyltransferase-cyclodeaminase measurement 'formimidoyltransferase-cyclodeaminase measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021890 interleukin-10 receptor subunit alpha measurement 'interleukin-10 receptor subunit alpha measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021892 adhesion G protein-coupled receptor E2 measurement 'adhesion G protein-coupled receptor E2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021891 hemK methyltransferase family member 2 measurement 'hemK methyltransferase family member 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021847 pigment epithelium-derived factor measurement 'pigment epithelium-derived factor measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021846 trefoil factor 2 measurement 'trefoil factor 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021849 protein Z-dependent protease inhibitor measurement 'protein Z-dependent protease inhibitor measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021848 C-C motif chemokine 4-like measurement 'C-C motif chemokine 4-like measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021843 vitronectin measurement 'vitronectin measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021842 interleukin-1 receptor type 2 measurement 'interleukin-1 receptor type 2 measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021845 gamma-enolase measurement 'gamma-enolase measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021844 platelet-derived growth factor receptor alpha measurement 'platelet-derived growth factor receptor alpha measurement' SubClassOf 'protein measurement' http://www.ebi.ac.uk/efo/EFO_0021841 mucin-1 measurement 'mucin-1 measurement' SubClassOf 'protein measurement' http://purl.obolibrary.org/obo/MONDO_0021184 deltaretrovirus infections 'deltaretrovirus infections' SubClassOf 'primary viral infectious disease' http://purl.obolibrary.org/obo/MONDO_0018609 syndromic hereditary optic neuropathy 'syndromic hereditary optic neuropathy' EquivalentTo 'hereditary optic neuropathy' and ('has modifier' some 'has a syndromic presentation') 'syndromic hereditary optic neuropathy' SubClassOf 'syndromic disease' 'syndromic hereditary optic neuropathy' SubClassOf 'hereditary optic neuropathy' http://purl.obolibrary.org/obo/MONDO_0004033 familial ovarian carcinoma 'familial ovarian carcinoma' EquivalentTo 'ovarian carcinoma' and ('has modifier' some 'inherited') 'familial ovarian carcinoma' SubClassOf 'familial ovarian cancer' 'familial ovarian carcinoma' SubClassOf 'ovarian carcinoma' http://purl.obolibrary.org/obo/MONDO_0008856 immunodeficiency 27A 'immunodeficiency 27A' SubClassOf 'inherited susceptibility to mycobacterial diseases' http://purl.obolibrary.org/obo/MONDO_0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' EquivalentTo 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' and ('has modifier' some 'inherited') 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'congenital nervous system disorder' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'syndromic intellectual disability' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'genetic nervous system disorder' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' 'genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome' SubClassOf 'genetic multiple congenital anomalies/dysmorphic syndrome' http://purl.obolibrary.org/obo/MONDO_0002454 thyroid adenoma 'thyroid adenoma' SubClassOf 'thyroid neoplasm' 'thyroid adenoma' SubClassOf 'adenoma' http://purl.obolibrary.org/obo/MONDO_0016556 transient congenital hypothyroidism due to neonatal factor 'transient congenital hypothyroidism due to neonatal factor' SubClassOf 'transient congenital hypothyroidism' http://purl.obolibrary.org/obo/MONDO_0100349 COACH syndrome 'COACH syndrome' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0016275 adenocarcinoma of cervix uteri 'adenocarcinoma of cervix uteri' SubClassOf 'cervical carcinoma' 'adenocarcinoma of cervix uteri' SubClassOf 'has modifier' some 'rare' 'adenocarcinoma of cervix uteri' SubClassOf 'adenocarcinoma' http://purl.obolibrary.org/obo/MONDO_0016286 adenoid cystic carcinoma of the cervix uteri 'adenoid cystic carcinoma of the cervix uteri' SubClassOf 'adenocarcinoma of cervix uteri' 'adenoid cystic carcinoma of the cervix uteri' SubClassOf 'adenoid cystic carcinoma' http://purl.obolibrary.org/obo/MONDO_0024255 genetic skin disease 'genetic skin disease' SubClassOf 'genetic disorder' 'genetic skin disease' EquivalentTo 'skin disease' and ('has modifier' some 'inherited') 'genetic skin disease' SubClassOf 'skin disease' http://purl.obolibrary.org/obo/MONDO_0012368 aminoacylase 1 deficiency 'aminoacylase 1 deficiency' SubClassOf 'inborn aminoacylase deficiency' 'aminoacylase 1 deficiency' SubClassOf 'neurometabolic disease' 'aminoacylase 1 deficiency' SubClassOf 'inherited amino acid metabolic disorder' http://purl.obolibrary.org/obo/MONDO_0700092 neurodevelopmental disorder 'neurodevelopmental disorder' SubClassOf 'nervous system disease' http://purl.obolibrary.org/obo/MONDO_0014776 spinocerebellar ataxia type 42 'spinocerebellar ataxia type 42' SubClassOf 'autosomal dominant cerebellar ataxia type III' http://purl.obolibrary.org/obo/MONDO_0019117 genetic nervous system disorder 'genetic nervous system disorder' SubClassOf 'nervous system disease' 'genetic nervous system disorder' EquivalentTo 'nervous system disease' and ('has modifier' some 'inherited') 'genetic nervous system disorder' SubClassOf 'genetic disorder' 'genetic nervous system disorder' SubClassOf 'has modifier' some 'rare' http://purl.obolibrary.org/obo/MONDO_0019165 central precocious puberty 'central precocious puberty' SubClassOf 'precocious puberty' 'peripheral precocious puberty' DisjointWith 'central precocious puberty' 'central precocious puberty' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0022672 autosomal dominant cataract 'autosomal dominant cataract' SubClassOf 'syndromic cataract' 'autosomal dominant cataract' SubClassOf 'autosomal dominant disease' http://purl.obolibrary.org/obo/MONDO_0044987 face disorder 'face disorder' SubClassOf 'head disorder' http://purl.obolibrary.org/obo/MONDO_0044999 scalp disorder 'scalp disorder' SubClassOf 'head disorder' http://purl.obolibrary.org/obo/MONDO_0019833 pituitary hormone deficiency from tumoral origin 'pituitary hormone deficiency from tumoral origin' SubClassOf 'acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0019834 pituitary hormone deficiency from meningeal origin 'pituitary hormone deficiency from meningeal origin' SubClassOf 'acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0019843 pituitary hormone deficiency secondary to a granulomatous disease 'pituitary hormone deficiency secondary to a granulomatous disease' SubClassOf 'acquired pituitary hormone deficiency' http://purl.obolibrary.org/obo/MONDO_0007743 attention deficit-hyperactivity disorder 'attention deficit-hyperactivity disorder' SubClassOf 'specific developmental disorder' http://purl.obolibrary.org/obo/MONDO_0019781 astrocytoma (excluding glioblastoma) 'astrocytoma (excluding glioblastoma)' SubClassOf 'astrocytoma' http://purl.obolibrary.org/obo/MONDO_0020642 polycystic kidney disease 'polycystic kidney disease' SubClassOf 'familial cystic renal disease' http://purl.obolibrary.org/obo/MONDO_0020676 disorder of central nervous system or retinal vasculature 'disorder of central nervous system or retinal vasculature' SubClassOf 'vascular disease' http://purl.obolibrary.org/obo/MONDO_0013953 immunodeficiency 28 'immunodeficiency 28' SubClassOf 'inborn errors of immunity' http://purl.obolibrary.org/obo/MONDO_0011014 pleuropulmonary blastoma 'pleuropulmonary blastoma' SubClassOf 'pulmonary blastoma' 'pleuropulmonary blastoma' SubClassOf 'childhood cancer' 'pleuropulmonary blastoma' SubClassOf 'genetic disorder' http://purl.obolibrary.org/obo/MONDO_0001524 globe disease 'globe disease' SubClassOf 'eye disease' http://purl.obolibrary.org/obo/MONDO_0015792 transient congenital hypothyroidism 'transient congenital hypothyroidism' SubClassOf 'congenital hypothyroidism'